ID |
LABEL |
A oboInOwl:hasDbXref |
>A oboInOwl:source SPLIT= |
|
|
A IAO:0000115 |
MONDO:0860072 |
gracile syndrome |
GARD:1 |
MONDO:equivalentTo |
GRACILE syndrome |
|
|
MONDO:0860073 |
spinocerebellar ataxia with axonal neuropathy type 1 |
GARD:10000 |
MONDO:equivalentTo |
Spinocerebellar ataxia with axonal neuropathy type 1 |
|
|
MONDO:0860074 |
congenital chloride diarrhea |
GARD:10001 |
MONDO:equivalentTo |
Congenital chloride diarrhea |
|
|
MONDO:0860075 |
familial progressive cardiac conduction defect |
GARD:10005 |
MONDO:equivalentTo |
Familial progressive cardiac conduction defect |
|
|
MONDO:0860076 |
opsoclonus-myoclonus syndrome |
GARD:10009 |
MONDO:equivalentTo |
Opsoclonus-myoclonus syndrome |
|
|
MONDO:0860077 |
self-improving dystrophic epidermolysis bullosa |
GARD:10010 |
MONDO:equivalentTo |
Self-improving dystrophic epidermolysis bullosa |
|
|
MONDO:0860078 |
agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome |
GARD:10011 |
MONDO:equivalentTo |
Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome |
|
|
MONDO:0860079 |
camptodactyly-tall stature-scoliosis-hearing loss syndrome |
GARD:10012 |
MONDO:equivalentTo |
Camptodactyly-tall stature-scoliosis-hearing loss syndrome |
|
|
MONDO:0860080 |
pellagra |
GARD:10014 |
MONDO:equivalentTo |
Pellagra |
|
|
MONDO:0860081 |
fuchs endothelial corneal dystrophy |
GARD:10018 |
MONDO:equivalentTo |
Fuchs endothelial corneal dystrophy |
|
|
MONDO:0860082 |
x-linked mandibulofacial dysostosis |
GARD:1002 |
MONDO:equivalentTo |
X-linked mandibulofacial dysostosis |
|
|
MONDO:0860083 |
anterior segment developmental anomaly |
GARD:10025 |
MONDO:equivalentTo |
Anterior segment developmental anomaly |
|
|
MONDO:0860084 |
campomelic dysplasia |
GARD:10027 |
MONDO:equivalentTo |
Campomelic dysplasia |
|
|
MONDO:0860085 |
benign recurrent intrahepatic cholestasis type 1 |
GARD:10028 |
MONDO:equivalentTo |
Benign recurrent intrahepatic cholestasis type 1 |
|
|
MONDO:0860086 |
benign recurrent intrahepatic cholestasis type 2 |
GARD:10029 |
MONDO:equivalentTo |
Benign recurrent intrahepatic cholestasis type 2 |
|
|
MONDO:0860087 |
congenital trigeminal anesthesia |
GARD:10034 |
MONDO:equivalentTo |
Congenital trigeminal anesthesia |
|
|
MONDO:0860088 |
familial encephalopathy with neuroserpin inclusion bodies |
GARD:10037 |
MONDO:equivalentTo |
Familial encephalopathy with neuroserpin inclusion bodies |
|
|
MONDO:0860089 |
hydroxykynureninuria |
GARD:10039 |
MONDO:equivalentTo |
Hydroxykynureninuria |
|
|
MONDO:0860090 |
burn-mckeown syndrome |
GARD:10041 |
MONDO:equivalentTo |
Burn-McKeown syndrome |
|
|
MONDO:0860091 |
congenital bile acid synthesis defect type 2 |
GARD:10045 |
MONDO:equivalentTo |
Congenital bile acid synthesis defect type 2 |
|
|
MONDO:0860092 |
congenital bile acid synthesis defect type 4 |
GARD:10046 |
MONDO:equivalentTo |
Congenital bile acid synthesis defect type 4 |
|
|
MONDO:0860093 |
glutathione synthetase deficiency |
GARD:10047 |
MONDO:equivalentTo |
Glutathione synthetase deficiency |
|
|
MONDO:0860094 |
isolated congenital anonychia |
GARD:10048 |
MONDO:equivalentTo |
Isolated congenital anonychia |
|
|
MONDO:0860095 |
central areolar choroidal dystrophy |
GARD:10049 |
MONDO:equivalentTo |
Central areolar choroidal dystrophy |
|
|
MONDO:0860096 |
bietti crystalline dystrophy |
GARD:10050 |
MONDO:equivalentTo |
Bietti crystalline dystrophy |
|
|
MONDO:0860097 |
limb-mammary syndrome |
GARD:10051 |
MONDO:equivalentTo |
Limb-mammary syndrome |
|
|
MONDO:0860098 |
lipomyelomeningocele |
GARD:10053 |
MONDO:equivalentTo |
Lipomyelomeningocele |
|
|
MONDO:0860099 |
eye defects-arachnodactyly-cardiopathy syndrome |
GARD:10054 |
MONDO:equivalentTo |
Eye defects-arachnodactyly-cardiopathy syndrome |
|
|
MONDO:0860100 |
mandibulofacial dysostosis-microcephaly syndrome |
GARD:10056 |
MONDO:equivalentTo |
Mandibulofacial dysostosis-microcephaly syndrome |
|
|
MONDO:0860101 |
spondyloepimetaphyseal dysplasia, geneviève type |
GARD:10057 |
MONDO:equivalentTo |
Spondyloepimetaphyseal dysplasia, Geneviève type |
|
|
MONDO:0860102 |
talo-patello-scaphoid osteolysis |
GARD:10061 |
MONDO:equivalentTo |
Talo-patello-scaphoid osteolysis |
|
|
MONDO:0860103 |
overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome |
GARD:10066 |
MONDO:equivalentTo |
Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome |
|
|
MONDO:0860104 |
subependymoma |
GARD:10070 |
MONDO:equivalentTo |
Subependymoma |
|
|
MONDO:0860105 |
diaphyseal medullary stenosis-bone malignancy syndrome |
GARD:10072 |
MONDO:equivalentTo |
Diaphyseal medullary stenosis-bone malignancy syndrome |
|
|
MONDO:0860106 |
white forelock with malformations |
GARD:10081 |
MONDO:equivalentTo |
White forelock with malformations |
|
|
MONDO:0860107 |
infantile osteopetrosis with neuroaxonal dysplasia |
GARD:10082 |
MONDO:equivalentTo |
Infantile osteopetrosis with neuroaxonal dysplasia |
|
|
MONDO:0860108 |
hepatic veno-occlusive disease-immunodeficiency syndrome |
GARD:10083 |
MONDO:equivalentTo |
Hepatic veno-occlusive disease-immunodeficiency syndrome |
|
|
MONDO:0860109 |
hemifacial myohyperplasia |
GARD:10084 |
MONDO:equivalentTo |
Hemifacial myohyperplasia |
|
|
MONDO:0860110 |
majeed syndrome |
GARD:10088 |
MONDO:equivalentTo |
Majeed syndrome |
|
|
MONDO:0860111 |
tarp syndrome |
GARD:10089 |
MONDO:equivalentTo |
TARP syndrome |
|
|
MONDO:0860112 |
sotos syndrome |
GARD:10091 |
MONDO:equivalentTo |
Sotos syndrome |
|
|
MONDO:0860113 |
hemochromatosis type 2 |
GARD:10092 |
MONDO:equivalentTo |
Hemochromatosis type 2 |
|
|
MONDO:0860114 |
hemochromatosis type 3 |
GARD:10093 |
MONDO:equivalentTo |
Hemochromatosis type 3 |
|
|
MONDO:0860115 |
hemochromatosis type 4 |
GARD:10094 |
MONDO:equivalentTo |
Hemochromatosis type 4 |
|
|
MONDO:0860116 |
hereditary leiomyomatosis and renal cell cancer |
GARD:10096 |
MONDO:equivalentTo |
Hereditary leiomyomatosis and renal cell cancer |
|
|
MONDO:0860117 |
gamma-glutamyl transpeptidase deficiency |
GARD:10099 |
MONDO:equivalentTo |
Gamma-glutamyl transpeptidase deficiency |
|
|
MONDO:0860118 |
centronuclear myopathy |
GARD:101 |
MONDO:equivalentTo |
Centronuclear myopathy |
|
|
MONDO:0860119 |
spondyloepimetaphyseal dysplasia-hypotrichosis syndrome |
GARD:10101 |
MONDO:equivalentTo |
Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome |
|
|
MONDO:0860120 |
elastosis perforans serpiginosa |
GARD:10103 |
MONDO:equivalentTo |
Elastosis perforans serpiginosa |
|
|
MONDO:0860121 |
osteopetrosis-hypogammaglobulinemia syndrome |
GARD:10106 |
MONDO:equivalentTo |
Osteopetrosis-hypogammaglobulinemia syndrome |
|
|
MONDO:0860122 |
cornelia de lange syndrome |
GARD:10109 |
MONDO:equivalentTo |
Cornelia de Lange syndrome |
|
|
MONDO:0860123 |
ichthyosis-hypotrichosis syndrome |
GARD:10116 |
MONDO:equivalentTo |
Ichthyosis-hypotrichosis syndrome |
|
|
MONDO:0860124 |
oguchi disease |
GARD:10118 |
MONDO:equivalentTo |
Oguchi disease |
|
|
MONDO:0860125 |
morm syndrome |
GARD:10121 |
MONDO:equivalentTo |
MORM syndrome |
|
|
MONDO:0860126 |
progressive bifocal chorioretinal atrophy |
GARD:10123 |
MONDO:equivalentTo |
Progressive bifocal chorioretinal atrophy |
|
|
MONDO:0860127 |
gm1 gangliosidosis type 2 |
GARD:10126 |
MONDO:equivalentTo |
GM1 gangliosidosis type 2 |
|
|
MONDO:0860128 |
leydig cell hypoplasia due to lhb deficiency |
GARD:10127 |
MONDO:equivalentTo |
Leydig cell hypoplasia due to LHB deficiency |
|
|
MONDO:0860129 |
isolated follicle stimulating hormone deficiency |
GARD:10128 |
MONDO:equivalentTo |
Isolated follicle stimulating hormone deficiency |
|
|
MONDO:0860130 |
isolated thyroid-stimulating hormone deficiency |
GARD:10129 |
MONDO:equivalentTo |
Isolated thyroid-stimulating hormone deficiency |
|
|
MONDO:0860131 |
monosomy 22q13.3 |
GARD:10130 |
MONDO:equivalentTo |
Monosomy 22q13.3 |
|
|
MONDO:0860132 |
hereditary motor and sensory neuropathy, okinawa type |
GARD:10131 |
MONDO:equivalentTo |
Hereditary motor and sensory neuropathy, Okinawa type |
|
|
MONDO:0860133 |
charcot-marie-tooth disease type 4g |
GARD:10132 |
MONDO:equivalentTo |
Charcot-Marie-Tooth disease type 4G |
|
|
MONDO:0860134 |
distal hereditary motor neuropathy, jerash type |
GARD:10133 |
MONDO:equivalentTo |
Distal hereditary motor neuropathy, Jerash type |
|
|
MONDO:0860135 |
primary dystonia, dyt4 type |
GARD:10138 |
MONDO:equivalentTo |
Primary dystonia, DYT4 type |
|
|
MONDO:0860136 |
bohring-opitz syndrome |
GARD:10140 |
MONDO:equivalentTo |
Bohring-Opitz syndrome |
|
|
MONDO:0860137 |
osteogenesis imperfecta type 2 |
GARD:10142 |
MONDO:equivalentTo |
Osteogenesis imperfecta type 2 |
|
|
MONDO:0860138 |
dentinogenesis imperfecta type 3 |
GARD:10144 |
MONDO:equivalentTo |
Dentinogenesis imperfecta type 3 |
|
|
MONDO:0860139 |
17p11.2 microduplication syndrome |
GARD:10145 |
MONDO:equivalentTo |
17p11.2 microduplication syndrome |
|
|
MONDO:0860140 |
bor syndrome |
GARD:10147 |
MONDO:equivalentTo |
BOR syndrome |
|
|
MONDO:0860141 |
branchiootic syndrome |
GARD:10148 |
MONDO:equivalentTo |
Branchiootic syndrome |
|
|
MONDO:0860142 |
kyphomelic dysplasia |
GARD:10149 |
MONDO:equivalentTo |
Kyphomelic dysplasia |
|
|
MONDO:0860143 |
pulmonary venoocclusive disease |
GARD:10153 |
MONDO:equivalentTo |
Pulmonary venoocclusive disease |
|
|
MONDO:0860144 |
congenital chylothorax |
GARD:10156 |
MONDO:equivalentTo |
Congenital chylothorax |
|
|
MONDO:0860145 |
curly hair-acral keratoderma-caries syndrome |
GARD:10163 |
MONDO:equivalentTo |
Curly hair-acral keratoderma-caries syndrome |
|
|
MONDO:0860146 |
joubert syndrome with ocular defect |
GARD:10168 |
MONDO:equivalentTo |
Joubert syndrome with ocular defect |
|
|
MONDO:0860147 |
joubert syndrome with renal defect |
GARD:10169 |
MONDO:equivalentTo |
Joubert syndrome with renal defect |
|
|
MONDO:0860148 |
osteogenesis imperfecta |
GARD:1017 |
MONDO:equivalentTo |
Osteogenesis imperfecta |
|
|
MONDO:0860149 |
florid cemento-osseous dysplasia |
GARD:10173 |
MONDO:equivalentTo |
Florid cemento-osseous dysplasia |
|
|
MONDO:0860150 |
klatskin tumor |
GARD:10175 |
MONDO:equivalentTo |
Klatskin tumor |
|
|
MONDO:0860151 |
mirizzi syndrome |
GARD:10177 |
MONDO:equivalentTo |
Mirizzi syndrome |
|
|
MONDO:0860152 |
brooke-spiegler syndrome |
GARD:10179 |
MONDO:equivalentTo |
Brooke-Spiegler syndrome |
|
|
MONDO:0860153 |
epithelioid sarcoma |
GARD:10181 |
MONDO:equivalentTo |
Epithelioid sarcoma |
|
|
MONDO:0860154 |
hereditary cryohydrocytosis with normal stomatin |
GARD:10184 |
MONDO:equivalentTo |
Hereditary cryohydrocytosis with normal stomatin |
|
|
MONDO:0860155 |
brittle cornea syndrome |
GARD:1019 |
MONDO:equivalentTo |
Brittle cornea syndrome |
|
|
MONDO:0860156 |
isolated focal cortical dysplasia type ii |
GARD:10190 |
MONDO:equivalentTo |
Isolated focal cortical dysplasia type II |
|
|
MONDO:0860157 |
subcutaneous panniculitis-like t-cell lymphoma |
GARD:10193 |
MONDO:equivalentTo |
Subcutaneous panniculitis-like T-cell lymphoma |
|
|
MONDO:0860158 |
early-onset x-linked optic atrophy |
GARD:10199 |
MONDO:equivalentTo |
Early-onset X-linked optic atrophy |
|
|
MONDO:0860159 |
neu-laxova syndrome |
GARD:102 |
MONDO:equivalentTo |
Neu-Laxova syndrome |
|
|
MONDO:0860160 |
2q37 microdeletion syndrome |
GARD:10202 |
MONDO:equivalentTo |
2q37 microdeletion syndrome |
|
|
MONDO:0860161 |
autosomal dominant optic atrophy and cataract |
GARD:10203 |
MONDO:equivalentTo |
Autosomal dominant optic atrophy and cataract |
|
|
MONDO:0860162 |
blepharophimosis-ptosis-epicanthus inversus syndrome type 2 |
GARD:10213 |
MONDO:equivalentTo |
Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 |
|
|
MONDO:0860163 |
neonatal intrahepatic cholestasis due to citrin deficiency |
GARD:10214 |
MONDO:equivalentTo |
Neonatal intrahepatic cholestasis due to citrin deficiency |
|
|
MONDO:0860164 |
citrullinemia type ii |
GARD:10215 |
MONDO:equivalentTo |
Citrullinemia type II |
|
|
MONDO:0860165 |
nde1-related microhydranencephaly |
GARD:10216 |
MONDO:equivalentTo |
NDE1-related microhydranencephaly |
|
|
MONDO:0860166 |
spondyloepiphyseal dysplasia with metatarsal shortening |
GARD:10220 |
MONDO:equivalentTo |
Spondyloepiphyseal dysplasia with metatarsal shortening |
|
|
MONDO:0860167 |
hnf1b-related autosomal dominant tubulointerstitial kidney disease |
GARD:10221 |
MONDO:equivalentTo |
HNF1B-related autosomal dominant tubulointerstitial kidney disease |
|
|
MONDO:0860168 |
isobutyryl-coa dehydrogenase deficiency |
GARD:10223 |
MONDO:equivalentTo |
Isobutyryl-CoA dehydrogenase deficiency |
|
|
MONDO:0860169 |
zygomycosis |
GARD:10224 |
MONDO:equivalentTo |
Zygomycosis |
|
|
MONDO:0860170 |
multiple endocrine neoplasia type 2b |
GARD:10225 |
MONDO:equivalentTo |
Multiple endocrine neoplasia type 2B |
|
|
MONDO:0860171 |
cog1-cdg |
GARD:10226 |
MONDO:equivalentTo |
COG1-CDG |
|
|
MONDO:0860172 |
autosomal dominant limb-girdle muscular dystrophy type 1a |
GARD:10229 |
MONDO:equivalentTo |
Autosomal dominant limb-girdle muscular dystrophy type 1A |
|
|
MONDO:0860173 |
biotin-thiamine-responsive basal ganglia disease |
GARD:10237 |
MONDO:equivalentTo |
Biotin-thiamine-responsive basal ganglia disease |
|
|
MONDO:0860174 |
myostatin-related muscle hypertrophy |
GARD:10238 |
MONDO:equivalentTo |
Myostatin-related muscle hypertrophy |
|
|
MONDO:0860175 |
h syndrome |
GARD:10239 |
MONDO:equivalentTo |
H syndrome |
|
|
MONDO:0860176 |
familial lipase maturation factor 1 deficiency |
GARD:10244 |
MONDO:equivalentTo |
Familial lipase maturation factor 1 deficiency |
|
|
MONDO:0860177 |
down syndrome |
GARD:10247 |
MONDO:equivalentTo |
Down syndrome |
|
|
MONDO:0860178 |
rare disease with autism |
GARD:10248 |
MONDO:equivalentTo |
Rare disease with autism |
|
|
MONDO:0860179 |
bronchogenic cyst |
GARD:1025 |
MONDO:equivalentTo |
Bronchogenic cyst |
|
|
MONDO:0860180 |
primary sjögren syndrome |
GARD:10252 |
MONDO:equivalentTo |
Primary Sjögren syndrome |
|
|
MONDO:0860181 |
hydatidiform mole |
GARD:10263 |
MONDO:equivalentTo |
Hydatidiform mole |
|
|
MONDO:0860182 |
hereditary cerebral hemorrhage with amyloidosis |
GARD:10266 |
MONDO:equivalentTo |
Hereditary cerebral hemorrhage with amyloidosis |
|
|
MONDO:0860183 |
hyper-beta-alaninemia |
GARD:10267 |
MONDO:equivalentTo |
Hyper-beta-alaninemia |
|
|
MONDO:0860184 |
adducted thumbs-arthrogryposis syndrome, christian type |
GARD:10277 |
MONDO:equivalentTo |
Adducted thumbs-arthrogryposis syndrome, Christian type |
|
|
MONDO:0860185 |
isolated klippel-feil syndrome |
GARD:10280 |
MONDO:equivalentTo |
Isolated Klippel-Feil syndrome |
|
|
MONDO:0860186 |
desmosterolosis |
GARD:10283 |
MONDO:equivalentTo |
Desmosterolosis |
|
|
MONDO:0860187 |
rolandic epilepsy |
GARD:10287 |
MONDO:equivalentTo |
Rolandic epilepsy |
|
|
MONDO:0860188 |
neutral lipid storage myopathy |
GARD:10288 |
MONDO:equivalentTo |
Neutral lipid storage myopathy |
|
|
MONDO:0860189 |
bruck syndrome |
GARD:1029 |
MONDO:equivalentTo |
Bruck syndrome |
|
|
MONDO:0860190 |
wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia |
GARD:10290 |
MONDO:equivalentTo |
Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia |
|
|
MONDO:0860191 |
linear nevus sebaceus syndrome |
GARD:10291 |
MONDO:equivalentTo |
Linear nevus sebaceus syndrome |
|
|
MONDO:0860192 |
autosomal recessive ataxia due to ubiquinone deficiency |
GARD:10294 |
MONDO:equivalentTo |
Autosomal recessive ataxia due to ubiquinone deficiency |
|
|
MONDO:0860193 |
syndactyly-telecanthus-anogenital and renal malformations syndrome |
GARD:10295 |
MONDO:equivalentTo |
Syndactyly-telecanthus-anogenital and renal malformations syndrome |
|
|
MONDO:0860194 |
15q13.3 microdeletion syndrome |
GARD:10296 |
MONDO:equivalentTo |
15q13.3 microdeletion syndrome |
|
|
MONDO:0860195 |
ghosal hematodiaphyseal dysplasia |
GARD:10297 |
MONDO:equivalentTo |
Ghosal hematodiaphyseal dysplasia |
|
|
MONDO:0860196 |
22q11.2 deletion syndrome |
GARD:10299 |
MONDO:equivalentTo |
22q11.2 deletion syndrome |
|
|
MONDO:0860197 |
brugada syndrome |
GARD:1030 |
MONDO:equivalentTo |
Brugada syndrome |
|
|
MONDO:0860198 |
microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome |
GARD:10300 |
MONDO:equivalentTo |
Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome |
|
|
MONDO:0860199 |
autosomal recessive bestrophinopathy |
GARD:10301 |
MONDO:equivalentTo |
Autosomal recessive bestrophinopathy |
|
|
MONDO:0860200 |
serkal syndrome |
GARD:10302 |
MONDO:equivalentTo |
SERKAL syndrome |
|
|
MONDO:0860201 |
autism-facial port-wine stain syndrome |
GARD:10303 |
MONDO:equivalentTo |
Autism-facial port-wine stain syndrome |
|
|
MONDO:0860202 |
8p23.1 duplication syndrome |
GARD:10304 |
MONDO:equivalentTo |
8p23.1 duplication syndrome |
|
|
MONDO:0860203 |
nephrogenic syndrome of inappropriate antidiuresis |
GARD:10306 |
MONDO:equivalentTo |
Nephrogenic syndrome of inappropriate antidiuresis |
|
|
MONDO:0860204 |
congenital disorder of glycosylation |
GARD:10307 |
MONDO:equivalentTo |
Congenital disorder of glycosylation |
|
|
MONDO:0860205 |
immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency |
GARD:10311 |
MONDO:equivalentTo |
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency |
|
|
MONDO:0860206 |
neurogenic scapuloperoneal syndrome, kaeser type |
GARD:10312 |
MONDO:equivalentTo |
Neurogenic scapuloperoneal syndrome, Kaeser type |
|
|
MONDO:0860207 |
myh7-related late-onset scapuloperoneal muscular dystrophy |
GARD:10313 |
MONDO:equivalentTo |
MYH7-related late-onset scapuloperoneal muscular dystrophy |
|
|
MONDO:0860208 |
scapuloperoneal spinal muscular atrophy |
GARD:10314 |
MONDO:equivalentTo |
Scapuloperoneal spinal muscular atrophy |
|
|
MONDO:0860209 |
congenital multicore myopathy with external ophthalmoplegia |
GARD:10316 |
MONDO:equivalentTo |
Congenital multicore myopathy with external ophthalmoplegia |
|
|
MONDO:0860210 |
megaconial congenital muscular dystrophy |
GARD:10317 |
MONDO:equivalentTo |
Megaconial congenital muscular dystrophy |
|
|
MONDO:0860211 |
autosomal dominant prognathism |
GARD:10319 |
MONDO:equivalentTo |
Autosomal dominant prognathism |
|
|
MONDO:0860212 |
3-methylglutaconic aciduria type 1 |
GARD:10321 |
MONDO:equivalentTo |
3-methylglutaconic aciduria type 1 |
|
|
MONDO:0860213 |
2-methylbutyryl-coa dehydrogenase deficiency |
GARD:10322 |
MONDO:equivalentTo |
2-methylbutyryl-CoA dehydrogenase deficiency |
|
|
MONDO:0860214 |
l-arginine:glycine amidinotransferase deficiency |
GARD:10323 |
MONDO:equivalentTo |
L-Arginine:glycine amidinotransferase deficiency |
|
|
MONDO:0860215 |
mild phenylketonuria |
GARD:10324 |
MONDO:equivalentTo |
Mild phenylketonuria |
|
|
MONDO:0860216 |
progressive encephalopathy with leukodystrophy due to decr deficiency |
GARD:10327 |
MONDO:equivalentTo |
Progressive encephalopathy with leukodystrophy due to DECR deficiency |
|
|
MONDO:0860217 |
x-linked agammaglobulinemia |
GARD:1033 |
MONDO:equivalentTo |
X-linked agammaglobulinemia |
|
|
MONDO:0860218 |
tyrosinemia type 3 |
GARD:10332 |
MONDO:equivalentTo |
Tyrosinemia type 3 |
|
|
MONDO:0860219 |
sickle cell-beta-thalassemia disease syndrome |
GARD:10333 |
MONDO:equivalentTo |
Sickle cell-beta-thalassemia disease syndrome |
|
|
MONDO:0860220 |
mucopolysaccharidosis type 1 |
GARD:10335 |
MONDO:equivalentTo |
Mucopolysaccharidosis type 1 |
|
|
MONDO:0860221 |
severe combined immunodeficiency due to complete rag1/2 deficiency |
GARD:10339 |
MONDO:equivalentTo |
Severe combined immunodeficiency due to complete RAG1/2 deficiency |
|
|
MONDO:0860222 |
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome |
GARD:10341 |
MONDO:equivalentTo |
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome |
|
|
MONDO:0860223 |
3-methylglutaconic aciduria type 4 |
GARD:10342 |
MONDO:equivalentTo |
3-methylglutaconic aciduria type 4 |
|
|
MONDO:0860224 |
gamma-heavy chain disease |
GARD:10346 |
MONDO:equivalentTo |
Gamma-heavy chain disease |
|
|
MONDO:0860225 |
spinocerebellar ataxia type 6 |
GARD:10351 |
MONDO:equivalentTo |
Spinocerebellar ataxia type 6 |
|
|
MONDO:0860226 |
familial platelet disorder with associated myeloid malignancy |
GARD:10352 |
MONDO:equivalentTo |
Familial platelet disorder with associated myeloid malignancy |
|
|
MONDO:0860227 |
porphyria |
GARD:10353 |
MONDO:equivalentTo |
Porphyria |
|
|
MONDO:0860228 |
omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome |
GARD:10354 |
MONDO:equivalentTo |
Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome |
|
|
MONDO:0860229 |
familial congenital palsy of trochlear nerve |
GARD:10355 |
MONDO:equivalentTo |
Familial congenital palsy of trochlear nerve |
|
|
MONDO:0860230 |
intellectual disability, birk-barel type |
GARD:10358 |
MONDO:equivalentTo |
Intellectual disability, Birk-Barel type |
|
|
MONDO:0860231 |
3q29 microduplication syndrome |
GARD:10360 |
MONDO:equivalentTo |
3q29 microduplication syndrome |
|
|
MONDO:0860232 |
idiopathic trachyonychia |
GARD:10363 |
MONDO:equivalentTo |
Idiopathic trachyonychia |
|
|
MONDO:0860233 |
dopa-responsive dystonia due to sepiapterin reductase deficiency |
GARD:10365 |
MONDO:equivalentTo |
Dopa-responsive dystonia due to sepiapterin reductase deficiency |
|
|
MONDO:0860234 |
toriello-lacassie-droste syndrome |
GARD:10366 |
MONDO:equivalentTo |
Toriello-Lacassie-Droste syndrome |
|
|
MONDO:0860235 |
lelis syndrome |
GARD:10367 |
MONDO:equivalentTo |
Lelis syndrome |
|
|
MONDO:0860236 |
primary basilar invagination |
GARD:1037 |
MONDO:equivalentTo |
Primary basilar invagination |
|
|
MONDO:0860237 |
trehalase deficiency |
GARD:10372 |
MONDO:equivalentTo |
Trehalase deficiency |
|
|
MONDO:0860238 |
hereditary bullous dystrophy, macular type |
GARD:1038 |
MONDO:equivalentTo |
Hereditary bullous dystrophy, macular type |
|
|
MONDO:0860239 |
autosomal dominant epidermolytic ichthyosis |
GARD:1039 |
MONDO:equivalentTo |
Autosomal dominant epidermolytic ichthyosis |
|
|
MONDO:0860240 |
ochoa syndrome |
GARD:104 |
MONDO:equivalentTo |
Ochoa syndrome |
|
|
MONDO:0860241 |
rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome |
GARD:10407 |
MONDO:equivalentTo |
Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome |
|
|
MONDO:0860242 |
small cell carcinoma of the ovary |
GARD:10411 |
MONDO:equivalentTo |
Small cell carcinoma of the ovary |
|
|
MONDO:0860243 |
autosomal dominant polycystic kidney disease |
GARD:10413 |
MONDO:equivalentTo |
Autosomal dominant polycystic kidney disease |
|
|
MONDO:0860244 |
goblet cell carcinoma |
GARD:10414 |
MONDO:equivalentTo |
Goblet cell carcinoma |
|
|
MONDO:0860245 |
homozygous familial hypercholesterolemia |
GARD:10416 |
MONDO:equivalentTo |
Homozygous familial hypercholesterolemia |
|
|
MONDO:0860246 |
symptomatic form of hemochromatosis type 1 |
GARD:10417 |
MONDO:equivalentTo |
Symptomatic form of hemochromatosis type 1 |
|
|
MONDO:0860247 |
hemophilia |
GARD:10418 |
MONDO:equivalentTo |
Hemophilia |
|
|
MONDO:0860248 |
myotonic dystrophy |
GARD:10419 |
MONDO:equivalentTo |
Myotonic dystrophy |
|
|
MONDO:0860249 |
coenzyme q10 deficiency |
GARD:10423 |
MONDO:equivalentTo |
Coenzyme Q10 deficiency |
|
|
MONDO:0860250 |
cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy |
GARD:10424 |
MONDO:equivalentTo |
Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy |
|
|
MONDO:0860251 |
x-linked hypohidrotic ectodermal dysplasia |
GARD:10427 |
MONDO:equivalentTo |
X-linked hypohidrotic ectodermal dysplasia |
|
|
MONDO:0860252 |
pure autonomic failure |
GARD:10428 |
MONDO:equivalentTo |
Pure autonomic failure |
|
|
MONDO:0860253 |
autosomal dominant brachyolmia |
GARD:10429 |
MONDO:equivalentTo |
Autosomal dominant brachyolmia |
|
|
MONDO:0860254 |
dravet syndrome |
GARD:10430 |
MONDO:equivalentTo |
Dravet syndrome |
|
|
MONDO:0860255 |
buschke-ollendorff syndrome |
GARD:1044 |
MONDO:equivalentTo |
Buschke-Ollendorff syndrome |
|
|
MONDO:0860256 |
pediatric multiple sclerosis |
GARD:10443 |
MONDO:equivalentTo |
Pediatric multiple sclerosis |
|
|
MONDO:0860257 |
transaldolase deficiency |
GARD:10445 |
MONDO:equivalentTo |
Transaldolase deficiency |
|
|
MONDO:0860258 |
perry syndrome |
GARD:10453 |
MONDO:equivalentTo |
Perry syndrome |
|
|
MONDO:0860259 |
isolated permanent neonatal diabetes mellitus |
GARD:10457 |
MONDO:equivalentTo |
Isolated permanent neonatal diabetes mellitus |
|
|
MONDO:0860260 |
gcgr-related hyperglucagonemia |
GARD:10460 |
MONDO:equivalentTo |
GCGR-related hyperglucagonemia |
|
|
MONDO:0860261 |
multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome |
GARD:10467 |
MONDO:equivalentTo |
Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome |
|
|
MONDO:0860262 |
spinocerebellar ataxia type 17 |
GARD:10469 |
MONDO:equivalentTo |
Spinocerebellar ataxia type 17 |
|
|
MONDO:0860263 |
telethonin-related limb-girdle muscular dystrophy r7 |
GARD:10471 |
MONDO:equivalentTo |
Telethonin-related limb-girdle muscular dystrophy R7 |
|
|
MONDO:0860264 |
l-2-hydroxyglutaric aciduria |
GARD:10472 |
MONDO:equivalentTo |
L-2-hydroxyglutaric aciduria |
|
|
MONDO:0860265 |
spinocerebellar ataxia type 10 |
GARD:10474 |
MONDO:equivalentTo |
Spinocerebellar ataxia type 10 |
|
|
MONDO:0860266 |
spinocerebellar ataxia type 11 |
GARD:10475 |
MONDO:equivalentTo |
Spinocerebellar ataxia type 11 |
|
|
MONDO:0860267 |
spinocerebellar ataxia type 12 |
GARD:10476 |
MONDO:equivalentTo |
Spinocerebellar ataxia type 12 |
|
|
MONDO:0860268 |
spinocerebellar ataxia type 15/16 |
GARD:10477 |
MONDO:equivalentTo |
Spinocerebellar ataxia type 15/16 |
|
|
MONDO:0860269 |
spinocerebellar ataxia type 29 |
GARD:10480 |
MONDO:equivalentTo |
Spinocerebellar ataxia type 29 |
|
|
MONDO:0860270 |
infantile dystonia-parkinsonism |
GARD:10484 |
MONDO:equivalentTo |
Infantile dystonia-parkinsonism |
|
|
MONDO:0860271 |
craniopharyngioma |
GARD:10486 |
MONDO:equivalentTo |
Craniopharyngioma |
|
|
MONDO:0860272 |
cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy |
GARD:1049 |
MONDO:equivalentTo |
Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy |
|
|
MONDO:0860273 |
langerhans cell sarcoma |
GARD:10491 |
MONDO:equivalentTo |
Langerhans cell sarcoma |
|
|
MONDO:0860274 |
aggressive nk-cell leukemia |
GARD:10493 |
MONDO:equivalentTo |
Aggressive NK-cell leukemia |
|
|
MONDO:0860275 |
meconium aspiration syndrome |
GARD:10494 |
MONDO:equivalentTo |
Meconium aspiration syndrome |
|
|
MONDO:0860276 |
oculocerebral hypopigmentation syndrome, cross type |
GARD:105 |
MONDO:equivalentTo |
Oculocerebral hypopigmentation syndrome, Cross type |
|
|
MONDO:0860277 |
amyotrophic lateral sclerosis type 4 |
GARD:10502 |
MONDO:equivalentTo |
Amyotrophic lateral sclerosis type 4 |
|
|
MONDO:0860278 |
craniorachischisis |
GARD:10504 |
MONDO:equivalentTo |
Craniorachischisis |
|
|
MONDO:0860279 |
cryptophthalmia |
GARD:10505 |
MONDO:equivalentTo |
Cryptophthalmia |
|
|
MONDO:0860280 |
iniencephaly |
GARD:10506 |
MONDO:equivalentTo |
Iniencephaly |
|
|
MONDO:0860281 |
bartter syndrome type 4 |
GARD:10508 |
MONDO:equivalentTo |
Bartter syndrome type 4 |
|
|
MONDO:0860282 |
acquired partial lipodystrophy |
GARD:10509 |
MONDO:equivalentTo |
Acquired partial lipodystrophy |
|
|
MONDO:0860283 |
caffey disease |
GARD:1051 |
MONDO:equivalentTo |
Caffey disease |
|
|
MONDO:0860284 |
juvenile huntington disease |
GARD:10510 |
MONDO:equivalentTo |
Juvenile Huntington disease |
|
|
MONDO:0860285 |
spondyloepimetaphyseal dysplasia, aggrecan type |
GARD:10513 |
MONDO:equivalentTo |
Spondyloepimetaphyseal dysplasia, aggrecan type |
|
|
MONDO:0860286 |
east syndrome |
GARD:10514 |
MONDO:equivalentTo |
EAST syndrome |
|
|
MONDO:0860287 |
congenital tracheomalacia |
GARD:10515 |
MONDO:equivalentTo |
Congenital tracheomalacia |
|
|
MONDO:0860288 |
sterile multifocal osteomyelitis with periostitis and pustulosis |
GARD:10516 |
MONDO:equivalentTo |
Sterile multifocal osteomyelitis with periostitis and pustulosis |
|
|
MONDO:0860289 |
orofaciodigital syndrome type 3 |
GARD:10518 |
MONDO:equivalentTo |
Orofaciodigital syndrome type 3 |
|
|
MONDO:0860290 |
cataract-hypertrichosis-intellectual disability syndrome |
GARD:1052 |
MONDO:equivalentTo |
Cataract-hypertrichosis-intellectual disability syndrome |
|
|
MONDO:0860291 |
orofaciodigital syndrome type 9 |
GARD:10520 |
MONDO:equivalentTo |
Orofaciodigital syndrome type 9 |
|
|
MONDO:0860292 |
congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome |
GARD:10522 |
MONDO:equivalentTo |
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome |
|
|
MONDO:0860293 |
combined immunodeficiency due to stim1 deficiency |
GARD:10523 |
MONDO:equivalentTo |
Combined immunodeficiency due to STIM1 deficiency |
|
|
MONDO:0860294 |
combined immunodeficiency due to orai1 deficiency |
GARD:10524 |
MONDO:equivalentTo |
Combined immunodeficiency due to ORAI1 deficiency |
|
|
MONDO:0860295 |
15q11.2 microdeletion syndrome |
GARD:10525 |
MONDO:equivalentTo |
15q11.2 microdeletion syndrome |
|
|
MONDO:0860296 |
ectodermal dysplasia with natal teeth, turnpenny type |
GARD:10526 |
MONDO:equivalentTo |
Ectodermal dysplasia with natal teeth, Turnpenny type |
|
|
MONDO:0860297 |
gingival fibromatosis-facial dysmorphism syndrome |
GARD:10528 |
MONDO:equivalentTo |
Gingival fibromatosis-facial dysmorphism syndrome |
|
|
MONDO:0860298 |
myofibrillar myopathy |
GARD:10529 |
MONDO:equivalentTo |
Myofibrillar myopathy |
|
|
MONDO:0860299 |
limited cutaneous systemic sclerosis |
GARD:1053 |
MONDO:equivalentTo |
Limited cutaneous systemic sclerosis |
|
|
MONDO:0860300 |
x-linked dystonia-parkinsonism |
GARD:10533 |
MONDO:equivalentTo |
X-linked dystonia-parkinsonism |
|
|
MONDO:0860301 |
primary dystonia, dyt17 type |
GARD:10536 |
MONDO:equivalentTo |
Primary dystonia, DYT17 type |
|
|
MONDO:0860302 |
primary dystonia, dyt13 type |
GARD:10537 |
MONDO:equivalentTo |
Primary dystonia, DYT13 type |
|
|
MONDO:0860303 |
autosomal recessive spastic paraplegia type 35 |
GARD:10538 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 35 |
|
|
MONDO:0860304 |
dystonia 16 |
GARD:10539 |
MONDO:equivalentTo |
Dystonia 16 |
|
|
MONDO:0860305 |
paroxysmal exertion-induced dyskinesia |
GARD:10541 |
MONDO:equivalentTo |
Paroxysmal exertion-induced dyskinesia |
|
|
MONDO:0860306 |
cd4+/cd56+ hematodermic neoplasm |
GARD:10556 |
MONDO:equivalentTo |
CD4+/CD56+ hematodermic neoplasm |
|
|
MONDO:0860307 |
22q11.2 duplication syndrome |
GARD:10557 |
MONDO:equivalentTo |
22q11.2 duplication syndrome |
|
|
MONDO:0860308 |
primary interstitial lung disease specific to childhood |
GARD:10559 |
MONDO:equivalentTo |
Primary interstitial lung disease specific to childhood |
|
|
MONDO:0860309 |
aa amyloidosis |
GARD:10560 |
MONDO:equivalentTo |
AA amyloidosis |
|
|
MONDO:0860310 |
nodular cutaneous amyloidosis |
GARD:10562 |
MONDO:equivalentTo |
Nodular cutaneous amyloidosis |
|
|
MONDO:0860311 |
calpain-3-related limb-girdle muscular dystrophy r1 |
GARD:1057 |
MONDO:equivalentTo |
Calpain-3-related limb-girdle muscular dystrophy R1 |
|
|
MONDO:0860312 |
christianson syndrome |
GARD:10572 |
MONDO:equivalentTo |
Christianson syndrome |
|
|
MONDO:0860313 |
camptodactyly syndrome, guadalajara type 3 |
GARD:10573 |
MONDO:equivalentTo |
Camptodactyly syndrome, Guadalajara type 3 |
|
|
MONDO:0860314 |
åland islands eye disease |
GARD:10574 |
MONDO:equivalentTo |
Åland Islands eye disease |
|
|
MONDO:0860315 |
hyper-igm syndrome type 2 |
GARD:10578 |
MONDO:equivalentTo |
Hyper-IgM syndrome type 2 |
|
|
MONDO:0860316 |
hyper-igm syndrome type 3 |
GARD:10579 |
MONDO:equivalentTo |
Hyper-IgM syndrome type 3 |
|
|
MONDO:0860317 |
x-linked calvarial hyperostosis |
GARD:1058 |
MONDO:equivalentTo |
X-linked calvarial hyperostosis |
|
|
MONDO:0860318 |
hyper-igm syndrome type 4 |
GARD:10580 |
MONDO:equivalentTo |
Hyper-IgM syndrome type 4 |
|
|
MONDO:0860319 |
hyper-igm syndrome type 5 |
GARD:10581 |
MONDO:equivalentTo |
Hyper-IgM syndrome type 5 |
|
|
MONDO:0860320 |
zechi-ceide syndrome |
GARD:10582 |
MONDO:equivalentTo |
Zechi-Ceide syndrome |
|
|
MONDO:0860321 |
neonatal ichthyosis-sclerosing cholangitis syndrome |
GARD:10583 |
MONDO:equivalentTo |
Neonatal ichthyosis-sclerosing cholangitis syndrome |
|
|
MONDO:0860322 |
mesomelic dysplasia, savarirayan type |
GARD:10584 |
MONDO:equivalentTo |
Mesomelic dysplasia, Savarirayan type |
|
|
MONDO:0860323 |
chronic neutrophilic leukemia |
GARD:10585 |
MONDO:equivalentTo |
Chronic neutrophilic leukemia |
|
|
MONDO:0860324 |
adult-onset autosomal dominant leukodystrophy |
GARD:10587 |
MONDO:equivalentTo |
Adult-onset autosomal dominant leukodystrophy |
|
|
MONDO:0860325 |
mesoaxial synostotic syndactyly with phalangeal reduction |
GARD:10590 |
MONDO:equivalentTo |
Mesoaxial synostotic syndactyly with phalangeal reduction |
|
|
MONDO:0860326 |
1q21.1 microduplication syndrome |
GARD:10591 |
MONDO:equivalentTo |
1q21.1 microduplication syndrome |
|
|
MONDO:0860327 |
19q13.11 microdeletion syndrome |
GARD:10592 |
MONDO:equivalentTo |
19q13.11 microdeletion syndrome |
|
|
MONDO:0860328 |
acute infantile liver failure due to synthesis defect of mtdna-encoded proteins |
GARD:10593 |
MONDO:equivalentTo |
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins |
|
|
MONDO:0860329 |
neurodegenerative syndrome due to cerebral folate transport deficiency |
GARD:10594 |
MONDO:equivalentTo |
Neurodegenerative syndrome due to cerebral folate transport deficiency |
|
|
MONDO:0860330 |
bnar syndrome |
GARD:10595 |
MONDO:equivalentTo |
BNAR syndrome |
|
|
MONDO:0860331 |
complete androgen insensitivity syndrome |
GARD:10597 |
MONDO:equivalentTo |
Complete androgen insensitivity syndrome |
|
|
MONDO:0860332 |
oculocerebrocutaneous syndrome |
GARD:106 |
MONDO:equivalentTo |
Oculocerebrocutaneous syndrome |
|
|
MONDO:0860333 |
combined pituitary hormone deficiencies, genetic forms |
GARD:10602 |
MONDO:equivalentTo |
Combined pituitary hormone deficiencies, genetic forms |
|
|
MONDO:0860334 |
non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome |
GARD:10603 |
MONDO:equivalentTo |
Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome |
|
|
MONDO:0860335 |
short stature-pituitary and cerebellar defects-small sella turcica syndrome |
GARD:10604 |
MONDO:equivalentTo |
Short stature-pituitary and cerebellar defects-small sella turcica syndrome |
|
|
MONDO:0860336 |
acrocapitofemoral dysplasia |
GARD:10605 |
MONDO:equivalentTo |
Acrocapitofemoral dysplasia |
|
|
MONDO:0860337 |
atelosteogenesis type iii |
GARD:10608 |
MONDO:equivalentTo |
Atelosteogenesis type III |
|
|
MONDO:0860338 |
growth delay due to insulin-like growth factor i resistance |
GARD:10609 |
MONDO:equivalentTo |
Growth delay due to insulin-like growth factor I resistance |
|
|
MONDO:0860339 |
campomelia, cumming type |
GARD:1061 |
MONDO:equivalentTo |
Campomelia, Cumming type |
|
|
MONDO:0860340 |
spondyloepimetaphyseal dysplasia, matrilin-3 type |
GARD:10611 |
MONDO:equivalentTo |
Spondyloepimetaphyseal dysplasia, matrilin-3 type |
|
|
MONDO:0860341 |
thoracomelic dysplasia |
GARD:10612 |
MONDO:equivalentTo |
Thoracomelic dysplasia |
|
|
MONDO:0860342 |
adrenomyeloneuropathy |
GARD:10614 |
MONDO:equivalentTo |
Adrenomyeloneuropathy |
|
|
MONDO:0860343 |
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome |
GARD:10616 |
MONDO:equivalentTo |
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome |
|
|
MONDO:0860344 |
congenital cystic eye |
GARD:10617 |
MONDO:equivalentTo |
Congenital cystic eye |
|
|
MONDO:0860345 |
spondyloepimetaphyseal dysplasia, missouri type |
GARD:10618 |
MONDO:equivalentTo |
Spondyloepimetaphyseal dysplasia, Missouri type |
|
|
MONDO:0860346 |
camptobrachydactyly |
GARD:1062 |
MONDO:equivalentTo |
Camptobrachydactyly |
|
|
MONDO:0860347 |
smith-mccort dysplasia |
GARD:10620 |
MONDO:equivalentTo |
Smith-McCort dysplasia |
|
|
MONDO:0860348 |
spondyloepiphyseal dysplasia tarda |
GARD:10624 |
MONDO:equivalentTo |
Spondyloepiphyseal dysplasia tarda |
|
|
MONDO:0860349 |
growth delay due to insulin-like growth factor type 1 deficiency |
GARD:10627 |
MONDO:equivalentTo |
Growth delay due to insulin-like growth factor type 1 deficiency |
|
|
MONDO:0860350 |
spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome |
GARD:10629 |
MONDO:equivalentTo |
Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome |
|
|
MONDO:0860351 |
idiopathic camptocormia |
GARD:1063 |
MONDO:equivalentTo |
Idiopathic camptocormia |
|
|
MONDO:0860352 |
congenital tufting enteropathy |
GARD:10630 |
MONDO:equivalentTo |
Congenital tufting enteropathy |
|
|
MONDO:0860353 |
pleomorphic xanthoastrocytoma |
GARD:10631 |
MONDO:equivalentTo |
Pleomorphic xanthoastrocytoma |
|
|
MONDO:0860354 |
subependymal giant cell astrocytoma |
GARD:10632 |
MONDO:equivalentTo |
Subependymal giant cell astrocytoma |
|
|
MONDO:0860355 |
myxopapillary ependymoma |
GARD:10633 |
MONDO:equivalentTo |
Myxopapillary ependymoma |
|
|
MONDO:0860356 |
anaplastic ependymoma |
GARD:10634 |
MONDO:equivalentTo |
Anaplastic ependymoma |
|
|
MONDO:0860357 |
astroblastoma |
GARD:10635 |
MONDO:equivalentTo |
Astroblastoma |
|
|
MONDO:0860358 |
anaplastic oligoastrocytoma |
GARD:10637 |
MONDO:equivalentTo |
Anaplastic oligoastrocytoma |
|
|
MONDO:0860359 |
gangliocytoma |
GARD:10638 |
MONDO:equivalentTo |
Gangliocytoma |
|
|
MONDO:0860360 |
anaplastic ganglioglioma |
GARD:10639 |
MONDO:equivalentTo |
Anaplastic ganglioglioma |
|
|
MONDO:0860361 |
camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome |
GARD:1064 |
MONDO:equivalentTo |
Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome |
|
|
MONDO:0860362 |
dysembryoplastic neuroepithelial tumor |
GARD:10640 |
MONDO:equivalentTo |
Dysembryoplastic neuroepithelial tumor |
|
|
MONDO:0860363 |
central neurocytoma |
GARD:10641 |
MONDO:equivalentTo |
Central neurocytoma |
|
|
MONDO:0860364 |
cerebellar liponeurocytoma |
GARD:10642 |
MONDO:equivalentTo |
Cerebellar liponeurocytoma |
|
|
MONDO:0860365 |
carney-stratakis syndrome |
GARD:10643 |
MONDO:equivalentTo |
Carney-Stratakis syndrome |
|
|
MONDO:0860366 |
pineal parenchymal tumor of intermediate differenciation |
GARD:10644 |
MONDO:equivalentTo |
Pineal parenchymal tumor of intermediate differenciation |
|
|
MONDO:0860367 |
dent disease type 2 |
GARD:10645 |
MONDO:equivalentTo |
Dent disease type 2 |
|
|
MONDO:0860368 |
spondylometaphyseal dysplasia-cone-rod dystrophy syndrome |
GARD:10647 |
MONDO:equivalentTo |
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome |
|
|
MONDO:0860369 |
cone dystrophy with supernormal rod response |
GARD:10649 |
MONDO:equivalentTo |
Cone dystrophy with supernormal rod response |
|
|
MONDO:0860370 |
baroreflex failure |
GARD:10664 |
MONDO:equivalentTo |
Baroreflex failure |
|
|
MONDO:0860371 |
autosomal dominant focal dystonia, dyt25 type |
GARD:10667 |
MONDO:equivalentTo |
Autosomal dominant focal dystonia, DYT25 type |
|
|
MONDO:0860372 |
camptodactyly syndrome, guadalajara type 1 |
GARD:1067 |
MONDO:equivalentTo |
Camptodactyly syndrome, Guadalajara type 1 |
|
|
MONDO:0860373 |
glycoproteinosis |
GARD:10670 |
MONDO:equivalentTo |
Glycoproteinosis |
|
|
MONDO:0860374 |
fetal gaucher disease |
GARD:10675 |
MONDO:equivalentTo |
Fetal Gaucher disease |
|
|
MONDO:0860375 |
umod-related autosomal dominant tubulointerstitial kidney disease |
GARD:10679 |
MONDO:equivalentTo |
UMOD-related autosomal dominant tubulointerstitial kidney disease |
|
|
MONDO:0860376 |
camptodactyly syndrome, guadalajara type 2 |
GARD:1068 |
MONDO:equivalentTo |
Camptodactyly syndrome, Guadalajara type 2 |
|
|
MONDO:0860377 |
pseudohypoparathyroidism type 1b |
GARD:10680 |
MONDO:equivalentTo |
Pseudohypoparathyroidism type 1B |
|
|
MONDO:0860378 |
pseudohypoparathyroidism type 1c |
GARD:10681 |
MONDO:equivalentTo |
Pseudohypoparathyroidism type 1C |
|
|
MONDO:0860379 |
pseudohypoparathyroidism type 2 |
GARD:10682 |
MONDO:equivalentTo |
Pseudohypoparathyroidism type 2 |
|
|
MONDO:0860380 |
primary lateral sclerosis |
GARD:10684 |
MONDO:equivalentTo |
Primary lateral sclerosis |
|
|
MONDO:0860381 |
neuroferritinopathy |
GARD:10686 |
MONDO:equivalentTo |
Neuroferritinopathy |
|
|
MONDO:0860382 |
camptodactyly-taurinuria syndrome |
GARD:1069 |
MONDO:equivalentTo |
Camptodactyly-taurinuria syndrome |
|
|
MONDO:0860383 |
orofaciodigital syndrome |
GARD:10692 |
MONDO:equivalentTo |
Orofaciodigital syndrome |
|
|
MONDO:0860384 |
orofaciodigital syndrome type 12 |
GARD:10693 |
MONDO:equivalentTo |
Orofaciodigital syndrome type 12 |
|
|
MONDO:0860385 |
orofaciodigital syndrome type 13 |
GARD:10694 |
MONDO:equivalentTo |
Orofaciodigital syndrome type 13 |
|
|
MONDO:0860386 |
atrial septal defect, ostium primum type |
GARD:10695 |
MONDO:equivalentTo |
Atrial septal defect, ostium primum type |
|
|
MONDO:0860387 |
atrial septal defect, sinus venosus type |
GARD:10696 |
MONDO:equivalentTo |
Atrial septal defect, sinus venosus type |
|
|
MONDO:0860388 |
atrial septal defect, coronary sinus type |
GARD:10697 |
MONDO:equivalentTo |
Atrial septal defect, coronary sinus type |
|
|
MONDO:0860389 |
pontocerebellar hypoplasia type 1 |
GARD:10704 |
MONDO:equivalentTo |
Pontocerebellar hypoplasia type 1 |
|
|
MONDO:0860390 |
pontocerebellar hypoplasia type 2 |
GARD:10705 |
MONDO:equivalentTo |
Pontocerebellar hypoplasia type 2 |
|
|
MONDO:0860391 |
cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome |
GARD:10706 |
MONDO:equivalentTo |
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome |
|
|
MONDO:0860392 |
deafness with labyrinthine aplasia, microtia, and microdontia |
GARD:10707 |
MONDO:equivalentTo |
Deafness with labyrinthine aplasia, microtia, and microdontia |
|
|
MONDO:0860393 |
pontocerebellar hypoplasia type 3 |
GARD:10708 |
MONDO:equivalentTo |
Pontocerebellar hypoplasia type 3 |
|
|
MONDO:0860394 |
pontocerebellar hypoplasia type 6 |
GARD:10710 |
MONDO:equivalentTo |
Pontocerebellar hypoplasia type 6 |
|
|
MONDO:0860395 |
genetic peripheral neuropathy |
GARD:10711 |
MONDO:equivalentTo |
Genetic peripheral neuropathy |
|
|
MONDO:0860396 |
pudendal neuralgia |
GARD:10713 |
MONDO:equivalentTo |
Pudendal neuralgia |
|
|
MONDO:0860397 |
legius syndrome |
GARD:10714 |
MONDO:equivalentTo |
Legius syndrome |
|
|
MONDO:0860398 |
hsd10 disease |
GARD:10716 |
MONDO:equivalentTo |
HSD10 disease |
|
|
MONDO:0860399 |
noonan syndrome-like disorder with loose anagen hair |
GARD:10719 |
MONDO:equivalentTo |
Noonan syndrome-like disorder with loose anagen hair |
|
|
MONDO:0860400 |
camurati-engelmann disease |
GARD:1072 |
MONDO:equivalentTo |
Camurati-Engelmann disease |
|
|
MONDO:0860401 |
koolen-de vries syndrome |
GARD:10727 |
MONDO:equivalentTo |
Koolen-De Vries syndrome |
|
|
MONDO:0860402 |
fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease |
GARD:10728 |
MONDO:equivalentTo |
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease |
|
|
MONDO:0860403 |
chronic visceral acid sphingomyelinase deficiency |
GARD:10729 |
MONDO:equivalentTo |
Chronic visceral acid sphingomyelinase deficiency |
|
|
MONDO:0860404 |
pyridoxal phosphate-responsive seizures |
GARD:10730 |
MONDO:equivalentTo |
Pyridoxal phosphate-responsive seizures |
|
|
MONDO:0860405 |
mcleod neuroacanthocytosis syndrome |
GARD:10731 |
MONDO:equivalentTo |
McLeod neuroacanthocytosis syndrome |
|
|
MONDO:0860406 |
leukoencephalopathy with calcifications and cysts |
GARD:10732 |
MONDO:equivalentTo |
Leukoencephalopathy with calcifications and cysts |
|
|
MONDO:0860407 |
pleuropulmonary blastoma familial tumor susceptibility syndrome |
GARD:10734 |
MONDO:equivalentTo |
Pleuropulmonary blastoma familial tumor susceptibility syndrome |
|
|
MONDO:0860408 |
primary hyperoxaluria type 3 |
GARD:10738 |
MONDO:equivalentTo |
Primary hyperoxaluria type 3 |
|
|
MONDO:0860409 |
neuronal ceroid lipofuscinosis |
GARD:10739 |
MONDO:equivalentTo |
Neuronal ceroid lipofuscinosis |
|
|
MONDO:0860410 |
proximal 16p11.2 microdeletion syndrome |
GARD:10740 |
MONDO:equivalentTo |
Proximal 16p11.2 microdeletion syndrome |
|
|
MONDO:0860411 |
spondyloepimetaphyseal dysplasia, handigodu type |
GARD:10741 |
MONDO:equivalentTo |
Spondyloepimetaphyseal dysplasia, Handigodu type |
|
|
MONDO:0860412 |
conjunctival malignant melanoma |
GARD:10744 |
MONDO:equivalentTo |
Conjunctival malignant melanoma |
|
|
MONDO:0860413 |
epidermolysis bullosa simplex |
GARD:10752 |
MONDO:equivalentTo |
Epidermolysis bullosa simplex |
|
|
MONDO:0860414 |
pachyonychia congenita |
GARD:10753 |
MONDO:equivalentTo |
Pachyonychia congenita |
|
|
MONDO:0860415 |
rubinstein-taybi syndrome due to 16p13.3 microdeletion |
GARD:10754 |
MONDO:equivalentTo |
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion |
|
|
MONDO:0860416 |
16p13.3 microduplication syndrome |
GARD:10755 |
MONDO:equivalentTo |
16p13.3 microduplication syndrome |
|
|
MONDO:0860417 |
multiple epiphyseal dysplasia |
GARD:10756 |
MONDO:equivalentTo |
Multiple epiphyseal dysplasia |
|
|
MONDO:0860418 |
pseudohypoparathyroidism |
GARD:10758 |
MONDO:equivalentTo |
Pseudohypoparathyroidism |
|
|
MONDO:0860419 |
glycogen storage disease due to muscle and heart glycogen synthase deficiency |
GARD:10760 |
MONDO:equivalentTo |
Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
|
|
MONDO:0860420 |
2-hydroxyglutaric aciduria |
GARD:10761 |
MONDO:equivalentTo |
2-hydroxyglutaric aciduria |
|
|
MONDO:0860421 |
hereditary arterial and articular multiple calcification syndrome |
GARD:10762 |
MONDO:equivalentTo |
Hereditary arterial and articular multiple calcification syndrome |
|
|
MONDO:0860422 |
hypermethioninemia due to glycine n-methyltransferase deficiency |
GARD:10764 |
MONDO:equivalentTo |
Hypermethioninemia due to glycine N-methyltransferase deficiency |
|
|
MONDO:0860423 |
congenital factor xiii deficiency |
GARD:10766 |
MONDO:equivalentTo |
Congenital factor XIII deficiency |
|
|
MONDO:0860424 |
mogs-cdg |
GARD:10767 |
MONDO:equivalentTo |
MOGS-CDG |
|
|
MONDO:0860425 |
familial or sporadic hemiplegic migraine |
GARD:10768 |
MONDO:equivalentTo |
Familial or sporadic hemiplegic migraine |
|
|
MONDO:0860426 |
laing early-onset distal myopathy |
GARD:10769 |
MONDO:equivalentTo |
Laing early-onset distal myopathy |
|
|
MONDO:0860427 |
chronic mucocutaneous candidiasis |
GARD:1077 |
MONDO:equivalentTo |
Chronic mucocutaneous candidiasis |
|
|
MONDO:0860428 |
kallmann syndrome |
GARD:10771 |
MONDO:equivalentTo |
Kallmann syndrome |
|
|
MONDO:0860429 |
syndromic multisystem autoimmune disease due to itch deficiency |
GARD:10775 |
MONDO:equivalentTo |
Syndromic multisystem autoimmune disease due to Itch deficiency |
|
|
MONDO:0860430 |
peritoneal cystic mesothelioma |
GARD:10777 |
MONDO:equivalentTo |
Peritoneal cystic mesothelioma |
|
|
MONDO:0860431 |
recurrent infection due to specific granule deficiency |
GARD:10778 |
MONDO:equivalentTo |
Recurrent infection due to specific granule deficiency |
|
|
MONDO:0860432 |
clippers |
GARD:10779 |
MONDO:equivalentTo |
CLIPPERS |
|
|
MONDO:0860433 |
hypogonadism-mitral valve prolapse-intellectual disability syndrome |
GARD:1078 |
MONDO:equivalentTo |
Hypogonadism-mitral valve prolapse-intellectual disability syndrome |
|
|
MONDO:0860434 |
diffuse idiopathic pulmonary neuroendocrine cell hyperplasia |
GARD:10780 |
MONDO:equivalentTo |
Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia |
|
|
MONDO:0860435 |
goldmann-favre syndrome |
GARD:10781 |
MONDO:equivalentTo |
Goldmann-Favre syndrome |
|
|
MONDO:0860436 |
stickler syndrome |
GARD:10782 |
MONDO:equivalentTo |
Stickler syndrome |
|
|
MONDO:0860437 |
bilateral frontal polymicrogyria |
GARD:10783 |
MONDO:equivalentTo |
Bilateral frontal polymicrogyria |
|
|
MONDO:0860438 |
bilateral frontoparietal polymicrogyria |
GARD:10784 |
MONDO:equivalentTo |
Bilateral frontoparietal polymicrogyria |
|
|
MONDO:0860439 |
bilateral parasagittal parieto-occipital polymicrogyria |
GARD:10785 |
MONDO:equivalentTo |
Bilateral parasagittal parieto-occipital polymicrogyria |
|
|
MONDO:0860440 |
bilateral generalized polymicrogyria |
GARD:10786 |
MONDO:equivalentTo |
Bilateral generalized polymicrogyria |
|
|
MONDO:0860441 |
loeys-dietz syndrome |
GARD:10788 |
MONDO:equivalentTo |
Loeys-Dietz syndrome |
|
|
MONDO:0860442 |
cone rod dystrophy |
GARD:10790 |
MONDO:equivalentTo |
Cone rod dystrophy |
|
|
MONDO:0860443 |
logopenic progressive aphasia |
GARD:10791 |
MONDO:equivalentTo |
Logopenic progressive aphasia |
|
|
MONDO:0860444 |
semantic dementia |
GARD:10792 |
MONDO:equivalentTo |
Semantic dementia |
|
|
MONDO:0860445 |
progressive non-fluent aphasia |
GARD:10793 |
MONDO:equivalentTo |
Progressive non-fluent aphasia |
|
|
MONDO:0860446 |
paroxysmal hemicrania |
GARD:10794 |
MONDO:equivalentTo |
Paroxysmal hemicrania |
|
|
MONDO:0860447 |
hemicrania continua |
GARD:10795 |
MONDO:equivalentTo |
Hemicrania continua |
|
|
MONDO:0860448 |
hypnic headache |
GARD:10796 |
MONDO:equivalentTo |
Hypnic headache |
|
|
MONDO:0860449 |
adult polyglucosan body disease |
GARD:108 |
MONDO:equivalentTo |
Adult polyglucosan body disease |
|
|
MONDO:0860450 |
autosomal dominant tubulointerstitial kidney disease |
GARD:10801 |
MONDO:equivalentTo |
Autosomal dominant tubulointerstitial kidney disease |
|
|
MONDO:0860451 |
lamellar ichthyosis |
GARD:10803 |
MONDO:equivalentTo |
Lamellar ichthyosis |
|
|
MONDO:0860452 |
metaplastic carcinoma of the breast |
GARD:10804 |
MONDO:equivalentTo |
Metaplastic carcinoma of the breast |
|
|
MONDO:0860453 |
mutyh-related attenuated familial adenomatous polyposis |
GARD:10805 |
MONDO:equivalentTo |
MUTYH-related attenuated familial adenomatous polyposis |
|
|
MONDO:0860454 |
female restricted epilepsy with intellectual disability |
GARD:10806 |
MONDO:equivalentTo |
Female restricted epilepsy with intellectual disability |
|
|
MONDO:0860455 |
insulin autoimmune syndrome |
GARD:10808 |
MONDO:equivalentTo |
Insulin autoimmune syndrome |
|
|
MONDO:0860456 |
postorgasmic illness syndrome |
GARD:10809 |
MONDO:equivalentTo |
Postorgasmic illness syndrome |
|
|
MONDO:0860457 |
fatty acid hydroxylase-associated neurodegeneration |
GARD:10810 |
MONDO:equivalentTo |
Fatty acid hydroxylase-associated neurodegeneration |
|
|
MONDO:0860458 |
1q21.1 microdeletion syndrome |
GARD:10813 |
MONDO:equivalentTo |
1q21.1 microdeletion syndrome |
|
|
MONDO:0860459 |
thyrotoxic periodic paralysis |
GARD:10814 |
MONDO:equivalentTo |
Thyrotoxic periodic paralysis |
|
|
MONDO:0860460 |
lichen planus pigmentosus |
GARD:10816 |
MONDO:equivalentTo |
Lichen planus pigmentosus |
|
|
MONDO:0860461 |
autosomal dominant spastic paraplegia type 31 |
GARD:10817 |
MONDO:equivalentTo |
Autosomal dominant spastic paraplegia type 31 |
|
|
MONDO:0860462 |
combined malonic and methylmalonic acidemia |
GARD:10818 |
MONDO:equivalentTo |
Combined malonic and methylmalonic acidemia |
|
|
MONDO:0860463 |
eastern equine encephalitis |
GARD:10821 |
MONDO:equivalentTo |
Eastern equine encephalitis |
|
|
MONDO:0860464 |
idiopathic spontaneous coronary artery dissection |
GARD:10822 |
MONDO:equivalentTo |
Idiopathic spontaneous coronary artery dissection |
|
|
MONDO:0860465 |
obesity due to pro-opiomelanocortin deficiency |
GARD:10823 |
MONDO:equivalentTo |
Obesity due to pro-opiomelanocortin deficiency |
|
|
MONDO:0860466 |
cushing syndrome due to macronodular adrenal hyperplasia |
GARD:10824 |
MONDO:equivalentTo |
Cushing syndrome due to macronodular adrenal hyperplasia |
|
|
MONDO:0860467 |
familial hypocalciuric hypercalcemia |
GARD:10828 |
MONDO:equivalentTo |
Familial hypocalciuric hypercalcemia |
|
|
MONDO:0860468 |
hyperparathyroidism-jaw tumor syndrome |
GARD:10829 |
MONDO:equivalentTo |
Hyperparathyroidism-jaw tumor syndrome |
|
|
MONDO:0860469 |
nevus of ito |
GARD:10830 |
MONDO:equivalentTo |
Nevus of Ito |
|
|
MONDO:0860470 |
ring chromosome 2 syndrome |
GARD:10837 |
MONDO:equivalentTo |
Ring chromosome 2 syndrome |
|
|
MONDO:0860471 |
ring chromosome 3 syndrome |
GARD:10839 |
MONDO:equivalentTo |
Ring chromosome 3 syndrome |
|
|
MONDO:0860472 |
systemic capillary leak syndrome |
GARD:1084 |
MONDO:equivalentTo |
Systemic capillary leak syndrome |
|
|
MONDO:0860473 |
ring chromosome 5 syndrome |
GARD:10841 |
MONDO:equivalentTo |
Ring chromosome 5 syndrome |
|
|
MONDO:0860474 |
ring chromosome 11 syndrome |
GARD:10846 |
MONDO:equivalentTo |
Ring chromosome 11 syndrome |
|
|
MONDO:0860475 |
ring chromosome 16 syndrome |
GARD:10855 |
MONDO:equivalentTo |
Ring chromosome 16 syndrome |
|
|
MONDO:0860476 |
monosomy 21 |
GARD:10860 |
MONDO:equivalentTo |
Monosomy 21 |
|
|
MONDO:0860477 |
monosomy 18q |
GARD:10865 |
MONDO:equivalentTo |
Monosomy 18q |
|
|
MONDO:0860478 |
familial multiple trichoepithelioma |
GARD:10867 |
MONDO:equivalentTo |
Familial multiple trichoepithelioma |
|
|
MONDO:0860479 |
free sialic acid storage disease |
GARD:10870 |
MONDO:equivalentTo |
Free sialic acid storage disease |
|
|
MONDO:0860480 |
intermediate severe salla disease |
GARD:10871 |
MONDO:equivalentTo |
Intermediate severe Salla disease |
|
|
MONDO:0860481 |
malignant peripheral nerve sheath tumor |
GARD:10872 |
MONDO:equivalentTo |
Malignant peripheral nerve sheath tumor |
|
|
MONDO:0860482 |
heterotaxia |
GARD:10875 |
MONDO:equivalentTo |
Heterotaxia |
|
|
MONDO:0860483 |
congenital radioulnar synostosis |
GARD:10876 |
MONDO:equivalentTo |
Congenital radioulnar synostosis |
|
|
MONDO:0860484 |
familial tumoral calcinosis |
GARD:10877 |
MONDO:equivalentTo |
Familial tumoral calcinosis |
|
|
MONDO:0860485 |
familial normophosphatemic tumoral calcinosis |
GARD:10878 |
MONDO:equivalentTo |
Familial normophosphatemic tumoral calcinosis |
|
|
MONDO:0860486 |
familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome |
GARD:10879 |
MONDO:equivalentTo |
Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome |
|
|
MONDO:0860487 |
frontal fibrosing alopecia |
GARD:10886 |
MONDO:equivalentTo |
Frontal fibrosing alopecia |
|
|
MONDO:0860488 |
osteofibrous dysplasia |
GARD:10887 |
MONDO:equivalentTo |
Osteofibrous dysplasia |
|
|
MONDO:0860489 |
hanac syndrome |
GARD:10889 |
MONDO:equivalentTo |
HANAC syndrome |
|
|
MONDO:0860490 |
non-involuting congenital hemangioma |
GARD:10890 |
MONDO:equivalentTo |
Non-involuting congenital hemangioma |
|
|
MONDO:0860491 |
gm1 gangliosidosis |
GARD:10891 |
MONDO:equivalentTo |
GM1 gangliosidosis |
|
|
MONDO:0860492 |
blepharophimosis-intellectual disability syndrome |
GARD:10892 |
MONDO:equivalentTo |
Blepharophimosis-intellectual disability syndrome |
|
|
MONDO:0860493 |
primary acquired pure red cell aplasia |
GARD:10898 |
MONDO:equivalentTo |
Primary acquired pure red cell aplasia |
|
|
MONDO:0860494 |
inclusion body myopathy with paget disease of bone and frontotemporal dementia |
GARD:10899 |
MONDO:equivalentTo |
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia |
|
|
MONDO:0860495 |
progressive osseous heteroplasia |
GARD:109 |
MONDO:equivalentTo |
Progressive osseous heteroplasia |
|
|
MONDO:0860496 |
hereditary diffuse gastric cancer |
GARD:10900 |
MONDO:equivalentTo |
Hereditary diffuse gastric cancer |
|
|
MONDO:0860497 |
neuroacanthocytosis |
GARD:10902 |
MONDO:equivalentTo |
Neuroacanthocytosis |
|
|
MONDO:0860498 |
brachyolmia |
GARD:10903 |
MONDO:equivalentTo |
Brachyolmia |
|
|
MONDO:0860499 |
dyskeratosis congenita |
GARD:10905 |
MONDO:equivalentTo |
Dyskeratosis congenita |
|
|
MONDO:0860500 |
primary pigmented nodular adrenocortical disease |
GARD:10906 |
MONDO:equivalentTo |
Primary pigmented nodular adrenocortical disease |
|
|
MONDO:0860501 |
x-linked immunodeficiency with magnesium defect, epstein-barr virus infection and neoplasia |
GARD:10907 |
MONDO:equivalentTo |
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia |
|
|
MONDO:0860502 |
adult-onset foveomacular vitelliform dystrophy |
GARD:10909 |
MONDO:equivalentTo |
Adult-onset foveomacular vitelliform dystrophy |
|
|
MONDO:0860503 |
medial condensing osteitis of the clavicle |
GARD:10910 |
MONDO:equivalentTo |
Medial condensing osteitis of the clavicle |
|
|
MONDO:0860504 |
autoimmune pancreatitis |
GARD:10911 |
MONDO:equivalentTo |
Autoimmune pancreatitis |
|
|
MONDO:0860505 |
griscelli syndrome |
GARD:10913 |
MONDO:equivalentTo |
Griscelli syndrome |
|
|
MONDO:0860506 |
familial avascular necrosis of femoral head |
GARD:10914 |
MONDO:equivalentTo |
Familial avascular necrosis of femoral head |
|
|
MONDO:0860507 |
x-linked lymphoproliferative disease |
GARD:10915 |
MONDO:equivalentTo |
X-linked lymphoproliferative disease |
|
|
MONDO:0860508 |
x-linked lymphoproliferative disease due to xiap deficiency |
GARD:10916 |
MONDO:equivalentTo |
X-linked lymphoproliferative disease due to XIAP deficiency |
|
|
MONDO:0860509 |
hypomyelination with atrophy of basal ganglia and cerebellum |
GARD:10917 |
MONDO:equivalentTo |
Hypomyelination with atrophy of basal ganglia and cerebellum |
|
|
MONDO:0860510 |
pontine tegmental cap dysplasia |
GARD:10919 |
MONDO:equivalentTo |
Pontine tegmental cap dysplasia |
|
|
MONDO:0860511 |
intraneural perineurioma |
GARD:10921 |
MONDO:equivalentTo |
Intraneural perineurioma |
|
|
MONDO:0860512 |
49,xxxyy syndrome |
GARD:10922 |
MONDO:equivalentTo |
49,XXXYY syndrome |
|
|
MONDO:0860513 |
erythrokeratoderma variabilis progressiva |
GARD:10923 |
MONDO:equivalentTo |
Erythrokeratoderma variabilis progressiva |
|
|
MONDO:0860514 |
carney triad |
GARD:10924 |
MONDO:equivalentTo |
Carney triad |
|
|
MONDO:0860515 |
la crosse encephalitis |
GARD:10925 |
MONDO:equivalentTo |
La Crosse encephalitis |
|
|
MONDO:0860516 |
cryopyrin-associated periodic syndrome |
GARD:10927 |
MONDO:equivalentTo |
Cryopyrin-associated periodic syndrome |
|
|
MONDO:0860517 |
nodular regenerative hyperplasia of the liver |
GARD:10929 |
MONDO:equivalentTo |
Nodular regenerative hyperplasia of the liver |
|
|
MONDO:0860518 |
monocytopenia with susceptibility to infections |
GARD:10934 |
MONDO:equivalentTo |
Monocytopenia with susceptibility to infections |
|
|
MONDO:0860519 |
16q24.3 microdeletion syndrome |
GARD:10935 |
MONDO:equivalentTo |
16q24.3 microdeletion syndrome |
|
|
MONDO:0860520 |
17q23.1q23.2 microdeletion syndrome |
GARD:10936 |
MONDO:equivalentTo |
17q23.1q23.2 microdeletion syndrome |
|
|
MONDO:0860521 |
microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome |
GARD:10938 |
MONDO:equivalentTo |
Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome |
|
|
MONDO:0860522 |
cloves syndrome |
GARD:10939 |
MONDO:equivalentTo |
CLOVES syndrome |
|
|
MONDO:0860523 |
cardiac diverticulum |
GARD:1094 |
MONDO:equivalentTo |
Cardiac diverticulum |
|
|
MONDO:0860524 |
superior limbic keratoconjunctivitis |
GARD:10940 |
MONDO:equivalentTo |
Superior limbic keratoconjunctivitis |
|
|
MONDO:0860525 |
anterior uveitis |
GARD:10941 |
MONDO:equivalentTo |
Anterior uveitis |
|
|
MONDO:0860526 |
glaucoma secondary to spherophakia/ectopia lentis and megalocornea |
GARD:10942 |
MONDO:equivalentTo |
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea |
|
|
MONDO:0860527 |
1q44 microdeletion syndrome |
GARD:10943 |
MONDO:equivalentTo |
1q44 microdeletion syndrome |
|
|
MONDO:0860528 |
cog6-cgd |
GARD:10944 |
MONDO:equivalentTo |
COG6-CGD |
|
|
MONDO:0860529 |
short stature-optic atrophy-pelger-huët anomaly syndrome |
GARD:10945 |
MONDO:equivalentTo |
Short stature-optic atrophy-Pelger-Huët anomaly syndrome |
|
|
MONDO:0860530 |
corticosteroid-sensitive aseptic abscess syndrome |
GARD:10946 |
MONDO:equivalentTo |
Corticosteroid-sensitive aseptic abscess syndrome |
|
|
MONDO:0860531 |
uv-sensitive syndrome |
GARD:10947 |
MONDO:equivalentTo |
UV-sensitive syndrome |
|
|
MONDO:0860532 |
erythropoietic uroporphyria associated with myeloid malignancy |
GARD:10948 |
MONDO:equivalentTo |
Erythropoietic uroporphyria associated with myeloid malignancy |
|
|
MONDO:0860533 |
non-24-hour sleep-wake syndrome |
GARD:10949 |
MONDO:equivalentTo |
Non-24-hour sleep-wake syndrome |
|
|
MONDO:0860534 |
necrobiotic xanthogranuloma |
GARD:10951 |
MONDO:equivalentTo |
Necrobiotic xanthogranuloma |
|
|
MONDO:0860535 |
3-methylcrotonyl-coa carboxylase deficiency |
GARD:10954 |
MONDO:equivalentTo |
3-methylcrotonyl-CoA carboxylase deficiency |
|
|
MONDO:0860536 |
noonan syndrome |
GARD:10955 |
MONDO:equivalentTo |
Noonan syndrome |
|
|
MONDO:0860537 |
hyper-ige syndrome |
GARD:10956 |
MONDO:equivalentTo |
Hyper-IgE syndrome |
|
|
MONDO:0860538 |
irida syndrome |
GARD:10957 |
MONDO:equivalentTo |
IRIDA syndrome |
|
|
MONDO:0860539 |
oculocutaneous albinism |
GARD:10958 |
MONDO:equivalentTo |
Oculocutaneous albinism |
|
|
MONDO:0860540 |
familial isolated pituitary adenoma |
GARD:10959 |
MONDO:equivalentTo |
Familial isolated pituitary adenoma |
|
|
MONDO:0860541 |
flna-related x-linked myxomatous valvular dysplasia |
GARD:1096 |
MONDO:equivalentTo |
FLNA-related X-linked myxomatous valvular dysplasia |
|
|
MONDO:0860542 |
tempi syndrome |
GARD:10962 |
MONDO:equivalentTo |
TEMPI syndrome |
|
|
MONDO:0860543 |
chronic graft versus host disease |
GARD:10964 |
MONDO:equivalentTo |
Chronic graft versus host disease |
|
|
MONDO:0860544 |
fgfr2-related bent bone dysplasia |
GARD:10965 |
MONDO:equivalentTo |
FGFR2-related bent bone dysplasia |
|
|
MONDO:0860545 |
systemic-onset juvenile idiopathic arthritis |
GARD:10966 |
MONDO:equivalentTo |
Systemic-onset juvenile idiopathic arthritis |
|
|
MONDO:0860546 |
enthesitis-related juvenile idiopathic arthritis |
GARD:10969 |
MONDO:equivalentTo |
Enthesitis-related juvenile idiopathic arthritis |
|
|
MONDO:0860547 |
psoriasis-related juvenile idiopathic arthritis |
GARD:10970 |
MONDO:equivalentTo |
Psoriasis-related juvenile idiopathic arthritis |
|
|
MONDO:0860548 |
distal monosomy 17q |
GARD:10972 |
MONDO:equivalentTo |
Distal monosomy 17q |
|
|
MONDO:0860549 |
adult neuronal ceroid lipofuscinosis |
GARD:10973 |
MONDO:equivalentTo |
Adult neuronal ceroid lipofuscinosis |
|
|
MONDO:0860550 |
non-syndromic pontocerebellar hypoplasia |
GARD:10977 |
MONDO:equivalentTo |
Non-syndromic pontocerebellar hypoplasia |
|
|
MONDO:0860551 |
autoimmune polyendocrinopathy type 3 |
GARD:10980 |
MONDO:equivalentTo |
Autoimmune polyendocrinopathy type 3 |
|
|
MONDO:0860552 |
hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia |
GARD:10981 |
MONDO:equivalentTo |
Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia |
|
|
MONDO:0860553 |
disseminated superficial actinic porokeratosis |
GARD:10983 |
MONDO:equivalentTo |
Disseminated superficial actinic porokeratosis |
|
|
MONDO:0860554 |
mendelian susceptibility to mycobacterial diseases due to complete il12rb1 deficiency |
GARD:10984 |
MONDO:equivalentTo |
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
|
|
MONDO:0860555 |
left ventricular noncompaction |
GARD:10985 |
MONDO:equivalentTo |
Left ventricular noncompaction |
|
|
MONDO:0860556 |
granulomatous slack skin |
GARD:10986 |
MONDO:equivalentTo |
Granulomatous slack skin |
|
|
MONDO:0860557 |
mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome |
GARD:10989 |
MONDO:equivalentTo |
Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome |
|
|
MONDO:0860558 |
19p13.12 microdeletion syndrome |
GARD:10991 |
MONDO:equivalentTo |
19p13.12 microdeletion syndrome |
|
|
MONDO:0860559 |
autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome |
GARD:10992 |
MONDO:equivalentTo |
Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome |
|
|
MONDO:0860560 |
genitopatellar syndrome |
GARD:10994 |
MONDO:equivalentTo |
Genitopatellar syndrome |
|
|
MONDO:0860561 |
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
GARD:10995 |
MONDO:equivalentTo |
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
|
|
MONDO:0860562 |
distal 17p13.1 microdeletion syndrome |
GARD:10996 |
MONDO:equivalentTo |
Distal 17p13.1 microdeletion syndrome |
|
|
MONDO:0860563 |
aneurysm-osteoarthritis syndrome |
GARD:10997 |
MONDO:equivalentTo |
Aneurysm-osteoarthritis syndrome |
|
|
MONDO:0860564 |
2q23.1 microdeletion syndrome |
GARD:10998 |
MONDO:equivalentTo |
2q23.1 microdeletion syndrome |
|
|
MONDO:0860565 |
severe intellectual disability and progressive spastic paraplegia |
GARD:10999 |
MONDO:equivalentTo |
Severe intellectual disability and progressive spastic paraplegia |
|
|
MONDO:0860566 |
alternating hemiplegia of childhood |
GARD:11 |
MONDO:equivalentTo |
Alternating hemiplegia of childhood |
|
|
MONDO:0860567 |
noonan syndrome with multiple lentigines |
GARD:1100 |
MONDO:equivalentTo |
Noonan syndrome with multiple lentigines |
|
|
MONDO:0860568 |
constitutional megaloblastic anemia with severe neurologic disease |
GARD:11000 |
MONDO:equivalentTo |
Constitutional megaloblastic anemia with severe neurologic disease |
|
|
MONDO:0860569 |
karyomegalic interstitial nephritis |
GARD:11003 |
MONDO:equivalentTo |
Karyomegalic interstitial nephritis |
|
|
MONDO:0860570 |
linear and whorled nevoid hypermelanosis |
GARD:11004 |
MONDO:equivalentTo |
Linear and whorled nevoid hypermelanosis |
|
|
MONDO:0860571 |
febrile infection-related epilepsy syndrome |
GARD:11005 |
MONDO:equivalentTo |
Febrile infection-related epilepsy syndrome |
|
|
MONDO:0860572 |
painful orbital and systemic neurofibromas-marfanoid habitus syndrome |
GARD:11006 |
MONDO:equivalentTo |
Painful orbital and systemic neurofibromas-marfanoid habitus syndrome |
|
|
MONDO:0860573 |
onychocytic matricoma |
GARD:11007 |
MONDO:equivalentTo |
Onychocytic matricoma |
|
|
MONDO:0860574 |
nestor-guillermo progeria syndrome |
GARD:11008 |
MONDO:equivalentTo |
Nestor-Guillermo progeria syndrome |
|
|
MONDO:0860575 |
chondrodysplasia with joint dislocations, gpapp type |
GARD:11009 |
MONDO:equivalentTo |
Chondrodysplasia with joint dislocations, gPAPP type |
|
|
MONDO:0860576 |
hereditary sensorimotor neuropathy with hyperelastic skin |
GARD:11010 |
MONDO:equivalentTo |
Hereditary sensorimotor neuropathy with hyperelastic skin |
|
|
MONDO:0860577 |
multifocal motor neuropathy |
GARD:11011 |
MONDO:equivalentTo |
Multifocal motor neuropathy |
|
|
MONDO:0860578 |
cardiomyopathy-cataract-hip spine disease syndrome |
GARD:1102 |
MONDO:equivalentTo |
Cardiomyopathy-cataract-hip spine disease syndrome |
|
|
MONDO:0860579 |
recurrent respiratory papillomatosis |
GARD:111 |
MONDO:equivalentTo |
Recurrent respiratory papillomatosis |
|
|
MONDO:0860580 |
3mc syndrome |
GARD:1118 |
MONDO:equivalentTo |
3MC syndrome |
|
|
MONDO:0860581 |
carney complex |
GARD:1119 |
MONDO:equivalentTo |
Carney complex |
|
|
MONDO:0860582 |
infant acute respiratory distress syndrome |
GARD:112 |
MONDO:equivalentTo |
Infant acute respiratory distress syndrome |
|
|
MONDO:0860583 |
carnitine palmitoyl transferase 1a deficiency |
GARD:1120 |
MONDO:equivalentTo |
Carnitine palmitoyl transferase 1A deficiency |
|
|
MONDO:0860584 |
carnitine palmitoyltransferase ii deficiency |
GARD:1121 |
MONDO:equivalentTo |
Carnitine palmitoyltransferase II deficiency |
|
|
MONDO:0860585 |
carnitine-acylcarnitine translocase deficiency |
GARD:1123 |
MONDO:equivalentTo |
Carnitine-acylcarnitine translocase deficiency |
|
|
MONDO:0860586 |
carpotarsal osteochondromatosis |
GARD:1128 |
MONDO:equivalentTo |
Carpotarsal osteochondromatosis |
|
|
MONDO:0860587 |
idiopathic chronic eosinophilic pneumonia |
GARD:1130 |
MONDO:equivalentTo |
Idiopathic chronic eosinophilic pneumonia |
|
|
MONDO:0860588 |
x-linked intellectual disability, stocco dos santos type |
GARD:1133 |
MONDO:equivalentTo |
X-linked intellectual disability, Stocco Dos Santos type |
|
|
MONDO:0860589 |
autosomal recessive palmoplantar keratoderma and congenital alopecia |
GARD:1139 |
MONDO:equivalentTo |
Autosomal recessive palmoplantar keratoderma and congenital alopecia |
|
|
MONDO:0860590 |
x-linked charcot-marie-tooth disease type 5 |
GARD:114 |
MONDO:equivalentTo |
X-linked Charcot-Marie-Tooth disease type 5 |
|
|
MONDO:0860591 |
early-onset anterior polar cataract |
GARD:1140 |
MONDO:equivalentTo |
Early-onset anterior polar cataract |
|
|
MONDO:0860592 |
cataract-ataxia-deafness syndrome |
GARD:1141 |
MONDO:equivalentTo |
Cataract-ataxia-deafness syndrome |
|
|
MONDO:0860593 |
congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome |
GARD:1142 |
MONDO:equivalentTo |
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome |
|
|
MONDO:0860594 |
cataract-microcornea syndrome |
GARD:1155 |
MONDO:equivalentTo |
Cataract-microcornea syndrome |
|
|
MONDO:0860595 |
total early-onset cataract |
GARD:1159 |
MONDO:equivalentTo |
Total early-onset cataract |
|
|
MONDO:0860596 |
alpha-n-acetylgalactosaminidase deficiency type 1 |
GARD:116 |
MONDO:equivalentTo |
Alpha-N-acetylgalactosaminidase deficiency type 1 |
|
|
MONDO:0860597 |
cataract-glaucoma syndrome |
GARD:1160 |
MONDO:equivalentTo |
Cataract-glaucoma syndrome |
|
|
MONDO:0860598 |
caudal appendage-deafness syndrome |
GARD:1163 |
MONDO:equivalentTo |
Caudal appendage-deafness syndrome |
|
|
MONDO:0860599 |
caudal duplication |
GARD:1164 |
MONDO:equivalentTo |
Caudal duplication |
|
|
MONDO:0860600 |
acrocardiofacial syndrome |
GARD:1167 |
MONDO:equivalentTo |
Acrocardiofacial syndrome |
|
|
MONDO:0860601 |
schinzel-giedion syndrome |
GARD:117 |
MONDO:equivalentTo |
Schinzel-Giedion syndrome |
|
|
MONDO:0860602 |
ulnar-mammary syndrome |
GARD:118 |
MONDO:equivalentTo |
Ulnar-mammary syndrome |
|
|
MONDO:0860603 |
ameloblastic carcinoma |
GARD:11855 |
MONDO:equivalentTo |
Ameloblastic carcinoma |
|
|
MONDO:0860604 |
cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome |
GARD:1188 |
MONDO:equivalentTo |
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome |
|
|
MONDO:0860605 |
cerebellar ataxia-ectodermal dysplasia syndrome |
GARD:1189 |
MONDO:equivalentTo |
Cerebellar ataxia-ectodermal dysplasia syndrome |
|
|
MONDO:0860606 |
peroxisome biogenesis disorder |
GARD:11890 |
MONDO:equivalentTo |
Peroxisome biogenesis disorder |
|
|
MONDO:0860607 |
spinal arteriovenous metameric syndrome |
GARD:11892 |
MONDO:equivalentTo |
Spinal arteriovenous metameric syndrome |
|
|
MONDO:0860608 |
mandibuloacral dysplasia |
GARD:11893 |
MONDO:equivalentTo |
Mandibuloacral dysplasia |
|
|
MONDO:0860609 |
pulmonary alveolar microlithiasis |
GARD:11894 |
MONDO:equivalentTo |
Pulmonary alveolar microlithiasis |
|
|
MONDO:0860610 |
pellucid marginal degeneration |
GARD:11895 |
MONDO:equivalentTo |
Pellucid marginal degeneration |
|
|
MONDO:0860611 |
progressive cone dystrophy |
GARD:11897 |
MONDO:equivalentTo |
Progressive cone dystrophy |
|
|
MONDO:0860612 |
linear lichen planus |
GARD:11898 |
MONDO:equivalentTo |
Linear lichen planus |
|
|
MONDO:0860613 |
neurodegeneration with brain iron accumulation |
GARD:11899 |
MONDO:equivalentTo |
Neurodegeneration with brain iron accumulation |
|
|
MONDO:0860614 |
juvenile amyotrophic lateral sclerosis |
GARD:11901 |
MONDO:equivalentTo |
Juvenile amyotrophic lateral sclerosis |
|
|
MONDO:0860615 |
congenital myasthenic syndrome |
GARD:11902 |
MONDO:equivalentTo |
Congenital myasthenic syndrome |
|
|
MONDO:0860616 |
immunodeficiency due to selective anti-polysaccharide antibody deficiency |
GARD:11903 |
MONDO:equivalentTo |
Immunodeficiency due to selective anti-polysaccharide antibody deficiency |
|
|
MONDO:0860617 |
capillary malformation-arteriovenous malformation |
GARD:11904 |
MONDO:equivalentTo |
Capillary malformation-arteriovenous malformation |
|
|
MONDO:0860618 |
cylindrical spirals myopathy |
GARD:11906 |
MONDO:equivalentTo |
Cylindrical spirals myopathy |
|
|
MONDO:0860619 |
acute panmyelosis with myelofibrosis |
GARD:11907 |
MONDO:equivalentTo |
Acute panmyelosis with myelofibrosis |
|
|
MONDO:0860620 |
dirofilariasis |
GARD:11908 |
MONDO:equivalentTo |
Dirofilariasis |
|
|
MONDO:0860621 |
autosomal recessive progressive external ophthalmoplegia |
GARD:1191 |
MONDO:equivalentTo |
Autosomal recessive progressive external ophthalmoplegia |
|
|
MONDO:0860622 |
atypical werner syndrome |
GARD:11910 |
MONDO:equivalentTo |
Atypical Werner syndrome |
|
|
MONDO:0860623 |
deafness-infertility syndrome |
GARD:11911 |
MONDO:equivalentTo |
Deafness-infertility syndrome |
|
|
MONDO:0860624 |
heritable pulmonary arterial hypertension |
GARD:11914 |
MONDO:equivalentTo |
Heritable pulmonary arterial hypertension |
|
|
MONDO:0860625 |
cap myopathy |
GARD:11915 |
MONDO:equivalentTo |
Cap myopathy |
|
|
MONDO:0860626 |
autosomal dominant nocturnal frontal lobe epilepsy |
GARD:11918 |
MONDO:equivalentTo |
Autosomal dominant nocturnal frontal lobe epilepsy |
|
|
MONDO:0860627 |
small cell carcinoma of the bladder |
GARD:11923 |
MONDO:equivalentTo |
Small cell carcinoma of the bladder |
|
|
MONDO:0860628 |
x-linked centronuclear myopathy |
GARD:11925 |
MONDO:equivalentTo |
X-linked centronuclear myopathy |
|
|
MONDO:0860629 |
hereditary sensory neuropathy-deafness-dementia syndrome |
GARD:11927 |
MONDO:equivalentTo |
Hereditary sensory neuropathy-deafness-dementia syndrome |
|
|
MONDO:0860630 |
endosteal sclerosis-cerebellar hypoplasia syndrome |
GARD:1195 |
MONDO:equivalentTo |
Endosteal sclerosis-cerebellar hypoplasia syndrome |
|
|
MONDO:0860631 |
rhabdomyosarcoma |
GARD:11951 |
MONDO:equivalentTo |
Rhabdomyosarcoma |
|
|
MONDO:0860632 |
non-hodgkin lymphoma |
GARD:11953 |
MONDO:equivalentTo |
Non-Hodgkin lymphoma |
|
|
MONDO:0860633 |
cerebellar hypoplasia-tapetoretinal degeneration syndrome |
GARD:1196 |
MONDO:equivalentTo |
Cerebellar hypoplasia-tapetoretinal degeneration syndrome |
|
|
MONDO:0860634 |
familial partial lipodystrophy |
GARD:11962 |
MONDO:equivalentTo |
Familial partial lipodystrophy |
|
|
MONDO:0860635 |
renal nutcracker syndrome |
GARD:11971 |
MONDO:equivalentTo |
Renal nutcracker syndrome |
|
|
MONDO:0860636 |
autosomal dominant optic atrophy |
GARD:11972 |
MONDO:equivalentTo |
Autosomal dominant optic atrophy |
|
|
MONDO:0860637 |
angioimmunoblastic t-cell lymphoma |
GARD:11973 |
MONDO:equivalentTo |
Angioimmunoblastic T-cell lymphoma |
|
|
MONDO:0860638 |
3q29 microdeletion syndrome |
GARD:11974 |
MONDO:equivalentTo |
3q29 microdeletion syndrome |
|
|
MONDO:0860639 |
autoimmune encephalitis |
GARD:11979 |
MONDO:equivalentTo |
Autoimmune encephalitis |
|
|
MONDO:0860640 |
hypomyelination-congenital cataract syndrome |
GARD:11980 |
MONDO:equivalentTo |
Hypomyelination-congenital cataract syndrome |
|
|
MONDO:0860641 |
primary membranoproliferative glomerulonephritis |
GARD:11982 |
MONDO:equivalentTo |
Primary membranoproliferative glomerulonephritis |
|
|
MONDO:0860642 |
activated pi3k-delta syndrome |
GARD:11983 |
MONDO:equivalentTo |
Activated PI3K-delta syndrome |
|
|
MONDO:0860643 |
hereditary pheochromocytoma-paraganglioma |
GARD:11984 |
MONDO:equivalentTo |
Hereditary pheochromocytoma-paraganglioma |
|
|
MONDO:0860644 |
48,xyyy syndrome |
GARD:11985 |
MONDO:equivalentTo |
48,XYYY syndrome |
|
|
MONDO:0860645 |
autosomal recessive cerebelloparenchymal disorder type 3 |
GARD:1199 |
MONDO:equivalentTo |
Autosomal recessive cerebelloparenchymal disorder type 3 |
|
|
MONDO:0860646 |
adult-onset immunodeficiency with anti-interferon-gamma autoantibodies |
GARD:11992 |
MONDO:equivalentTo |
Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies |
|
|
MONDO:0860647 |
hypersensitivity pneumonitis |
GARD:12 |
MONDO:equivalentTo |
Hypersensitivity pneumonitis |
|
|
MONDO:0860648 |
hydrocephaly-cerebellar agenesis syndrome |
GARD:1200 |
MONDO:equivalentTo |
Hydrocephaly-cerebellar agenesis syndrome |
|
|
MONDO:0860649 |
congenital tracheal stenosis |
GARD:12008 |
MONDO:equivalentTo |
Congenital tracheal stenosis |
|
|
MONDO:0860650 |
isolated biliary atresia |
GARD:12010 |
MONDO:equivalentTo |
Isolated biliary atresia |
|
|
MONDO:0860651 |
autosomal dominant intermediate charcot-marie-tooth disease type e |
GARD:12011 |
MONDO:equivalentTo |
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E |
|
|
MONDO:0860652 |
lipoblastoma |
GARD:12015 |
MONDO:equivalentTo |
Lipoblastoma |
|
|
MONDO:0860653 |
primary melanoma of the central nervous system |
GARD:12016 |
MONDO:equivalentTo |
Primary melanoma of the central nervous system |
|
|
MONDO:0860654 |
differentiated thyroid carcinoma |
GARD:12027 |
MONDO:equivalentTo |
Differentiated thyroid carcinoma |
|
|
MONDO:0860655 |
levocardia |
GARD:12032 |
MONDO:equivalentTo |
Levocardia |
|
|
MONDO:0860656 |
nemaline myopathy |
GARD:12033 |
MONDO:equivalentTo |
Nemaline myopathy |
|
|
MONDO:0860657 |
facial onset sensory and motor neuronopathy |
GARD:12036 |
MONDO:equivalentTo |
Facial onset sensory and motor neuronopathy |
|
|
MONDO:0860658 |
immunotactoid glomerulopathy |
GARD:12048 |
MONDO:equivalentTo |
Immunotactoid glomerulopathy |
|
|
MONDO:0860659 |
gm3 synthase deficiency |
GARD:12059 |
MONDO:equivalentTo |
GM3 synthase deficiency |
|
|
MONDO:0860660 |
visual snow syndrome |
GARD:12062 |
MONDO:equivalentTo |
Visual snow syndrome |
|
|
MONDO:0860661 |
oculo-auriculo-vertebral spectrum |
GARD:12074 |
MONDO:equivalentTo |
Oculo-auriculo-vertebral spectrum |
|
|
MONDO:0860662 |
7q11.23 microduplication syndrome |
GARD:12076 |
MONDO:equivalentTo |
7q11.23 microduplication syndrome |
|
|
MONDO:0860663 |
isolated microphthalmia-anophthalmia-coloboma |
GARD:12085 |
MONDO:equivalentTo |
Isolated microphthalmia-anophthalmia-coloboma |
|
|
MONDO:0860664 |
lysosomal acid lipase deficiency |
GARD:12097 |
MONDO:equivalentTo |
Lysosomal acid lipase deficiency |
|
|
MONDO:0860665 |
cholesteryl ester storage disease |
GARD:12099 |
MONDO:equivalentTo |
Cholesteryl ester storage disease |
|
|
MONDO:0860666 |
focal facial dermal dysplasia type iii |
GARD:121 |
MONDO:equivalentTo |
Focal facial dermal dysplasia type III |
|
|
MONDO:0860667 |
cerebrofaciothoracic dysplasia |
GARD:1210 |
MONDO:equivalentTo |
Cerebrofaciothoracic dysplasia |
|
|
MONDO:0860668 |
autosomal dominant non-syndromic intellectual disability |
GARD:12107 |
MONDO:equivalentTo |
Autosomal dominant non-syndromic intellectual disability |
|
|
MONDO:0860669 |
trichothiodystrophy |
GARD:12109 |
MONDO:equivalentTo |
Trichothiodystrophy |
|
|
MONDO:0860670 |
autosomal recessive primary microcephaly |
GARD:12117 |
MONDO:equivalentTo |
Autosomal recessive primary microcephaly |
|
|
MONDO:0860671 |
congenital absence of upper arm and forearm with hand present |
GARD:12123 |
MONDO:equivalentTo |
Congenital absence of upper arm and forearm with hand present |
|
|
MONDO:0860672 |
macrophage activation syndrome |
GARD:12124 |
MONDO:equivalentTo |
Macrophage activation syndrome |
|
|
MONDO:0860673 |
plasmablastic lymphoma |
GARD:12125 |
MONDO:equivalentTo |
Plasmablastic lymphoma |
|
|
MONDO:0860674 |
methylmalonic acidemia with homocystinuria, type cblc |
GARD:12128 |
MONDO:equivalentTo |
Methylmalonic acidemia with homocystinuria, type cblC |
|
|
MONDO:0860675 |
dopa-responsive dystonia |
GARD:12144 |
MONDO:equivalentTo |
Dopa-responsive dystonia |
|
|
MONDO:0860676 |
reducing body myopathy |
GARD:12162 |
MONDO:equivalentTo |
Reducing body myopathy |
|
|
MONDO:0860677 |
brain-lung-thyroid syndrome |
GARD:12163 |
MONDO:equivalentTo |
Brain-lung-thyroid syndrome |
|
|
MONDO:0860678 |
5q14.3 microdeletion syndrome |
GARD:12166 |
MONDO:equivalentTo |
5q14.3 microdeletion syndrome |
|
|
MONDO:0860679 |
retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations |
GARD:1217 |
MONDO:equivalentTo |
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations |
|
|
MONDO:0860680 |
cdkl5-deficiency disorder |
GARD:12173 |
MONDO:equivalentTo |
CDKL5-deficiency disorder |
|
|
MONDO:0860681 |
cln10 disease |
GARD:1218 |
MONDO:equivalentTo |
CLN10 disease |
|
|
MONDO:0860682 |
benign recurrent intrahepatic cholestasis |
GARD:12185 |
MONDO:equivalentTo |
Benign recurrent intrahepatic cholestasis |
|
|
MONDO:0860683 |
cln1 disease |
GARD:1219 |
MONDO:equivalentTo |
CLN1 disease |
|
|
MONDO:0860684 |
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome |
GARD:12199 |
MONDO:equivalentTo |
Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome |
|
|
MONDO:0860685 |
singleton-merten dysplasia |
GARD:122 |
MONDO:equivalentTo |
Singleton-Merten dysplasia |
|
|
MONDO:0860686 |
cln7 disease |
GARD:1220 |
MONDO:equivalentTo |
CLN7 disease |
|
|
MONDO:0860687 |
15q24 microdeletion syndrome |
GARD:12219 |
MONDO:equivalentTo |
15q24 microdeletion syndrome |
|
|
MONDO:0860688 |
cln4b disease |
GARD:1222 |
MONDO:equivalentTo |
CLN4B disease |
|
|
MONDO:0860689 |
cln5 disease |
GARD:1223 |
MONDO:equivalentTo |
CLN5 disease |
|
|
MONDO:0860690 |
childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia |
GARD:12232 |
MONDO:equivalentTo |
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia |
|
|
MONDO:0860691 |
autosomal recessive ataxia, beauce type |
GARD:12234 |
MONDO:equivalentTo |
Autosomal recessive ataxia, Beauce type |
|
|
MONDO:0860692 |
cln6 disease |
GARD:1224 |
MONDO:equivalentTo |
CLN6 disease |
|
|
MONDO:0860693 |
familial lipoprotein lipase deficiency |
GARD:12241 |
MONDO:equivalentTo |
Familial lipoprotein lipase deficiency |
|
|
MONDO:0860694 |
new-onset refractory status epilepticus |
GARD:12244 |
MONDO:equivalentTo |
New-onset refractory status epilepticus |
|
|
MONDO:0860695 |
isolated ectopia lentis |
GARD:12251 |
MONDO:equivalentTo |
Isolated ectopia lentis |
|
|
MONDO:0860696 |
t-cell/histiocyte rich large b cell lymphoma |
GARD:12257 |
MONDO:equivalentTo |
T-cell/histiocyte rich large B cell lymphoma |
|
|
MONDO:0860697 |
cervical hypertrichosis-peripheral neuropathy syndrome |
GARD:1226 |
MONDO:equivalentTo |
Cervical hypertrichosis-peripheral neuropathy syndrome |
|
|
MONDO:0860698 |
col4a1-related familial vascular leukoencephalopathy |
GARD:12264 |
MONDO:equivalentTo |
COL4A1-related familial vascular leukoencephalopathy |
|
|
MONDO:0860699 |
congenital insensitivity to pain-anosmia-neuropathic arthropathy |
GARD:12267 |
MONDO:equivalentTo |
Congenital insensitivity to pain-anosmia-neuropathic arthropathy |
|
|
MONDO:0860700 |
central congenital hypothyroidism |
GARD:12280 |
MONDO:equivalentTo |
Central congenital hypothyroidism |
|
|
MONDO:0860701 |
chronic atrial and intestinal dysrhythmia syndrome |
GARD:12281 |
MONDO:equivalentTo |
Chronic atrial and intestinal dysrhythmia syndrome |
|
|
MONDO:0860702 |
lissencephaly |
GARD:12291 |
MONDO:equivalentTo |
Lissencephaly |
|
|
MONDO:0860703 |
bradyopsia |
GARD:12299 |
MONDO:equivalentTo |
Bradyopsia |
|
|
MONDO:0860704 |
pelizaeus-merzbacher-like disease |
GARD:12300 |
MONDO:equivalentTo |
Pelizaeus-Merzbacher-like disease |
|
|
MONDO:0860705 |
thomsen and becker disease |
GARD:12301 |
MONDO:equivalentTo |
Thomsen and Becker disease |
|
|
MONDO:0860706 |
celiac artery compression syndrome |
GARD:12308 |
MONDO:equivalentTo |
Celiac artery compression syndrome |
|
|
MONDO:0860707 |
congenital lactase deficiency |
GARD:12311 |
MONDO:equivalentTo |
Congenital lactase deficiency |
|
|
MONDO:0860708 |
image syndrome |
GARD:12312 |
MONDO:equivalentTo |
IMAGe syndrome |
|
|
MONDO:0860709 |
autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome |
GARD:12314 |
MONDO:equivalentTo |
Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome |
|
|
MONDO:0860710 |
alacrimia-choreoathetosis-liver dysfunction syndrome |
GARD:12315 |
MONDO:equivalentTo |
Alacrimia-choreoathetosis-liver dysfunction syndrome |
|
|
MONDO:0860711 |
autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency |
GARD:12316 |
MONDO:equivalentTo |
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency |
|
|
MONDO:0860712 |
hereditary sensory and autonomic neuropathy type 5 |
GARD:12328 |
MONDO:equivalentTo |
Hereditary sensory and autonomic neuropathy type 5 |
|
|
MONDO:0860713 |
chand syndrome |
GARD:1233 |
MONDO:equivalentTo |
CHAND syndrome |
|
|
MONDO:0860714 |
intestinal lymphangiectasia |
GARD:12331 |
MONDO:equivalentTo |
Intestinal lymphangiectasia |
|
|
MONDO:0860715 |
carcinosarcoma of the corpus uteri |
GARD:12335 |
MONDO:equivalentTo |
Carcinosarcoma of the corpus uteri |
|
|
MONDO:0860716 |
transcobalamin deficiency |
GARD:12338 |
MONDO:equivalentTo |
Transcobalamin deficiency |
|
|
MONDO:0860717 |
hypogonadotropic hypogonadism-retinitis pigmentosa syndrome |
GARD:1234 |
MONDO:equivalentTo |
Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome |
|
|
MONDO:0860718 |
rare lichen planus |
GARD:12344 |
MONDO:equivalentTo |
Rare lichen planus |
|
|
MONDO:0860719 |
dihydropyrimidinuria |
GARD:12347 |
MONDO:equivalentTo |
Dihydropyrimidinuria |
|
|
MONDO:0860720 |
cog5-cdg |
GARD:12348 |
MONDO:equivalentTo |
COG5-CDG |
|
|
MONDO:0860721 |
multifocal atrial tachycardia |
GARD:1235 |
MONDO:equivalentTo |
Multifocal atrial tachycardia |
|
|
MONDO:0860722 |
autosomal recessive axonal neuropathy with neuromyotonia |
GARD:12353 |
MONDO:equivalentTo |
Autosomal recessive axonal neuropathy with neuromyotonia |
|
|
MONDO:0860723 |
distal renal tubular acidosis with anemia |
GARD:12354 |
MONDO:equivalentTo |
Distal renal tubular acidosis with anemia |
|
|
MONDO:0860724 |
sting-associated vasculopathy with onset in infancy |
GARD:12357 |
MONDO:equivalentTo |
STING-associated vasculopathy with onset in infancy |
|
|
MONDO:0860725 |
microcytic anemia with liver iron overload |
GARD:12360 |
MONDO:equivalentTo |
Microcytic anemia with liver iron overload |
|
|
MONDO:0860726 |
familial hyperaldosteronism type iii |
GARD:12362 |
MONDO:equivalentTo |
Familial hyperaldosteronism type III |
|
|
MONDO:0860727 |
spinocerebellar ataxia type 19/22 |
GARD:12365 |
MONDO:equivalentTo |
Spinocerebellar ataxia type 19/22 |
|
|
MONDO:0860728 |
spinocerebellar ataxia type 35 |
GARD:12366 |
MONDO:equivalentTo |
Spinocerebellar ataxia type 35 |
|
|
MONDO:0860729 |
spinocerebellar ataxia type 36 |
GARD:12367 |
MONDO:equivalentTo |
Spinocerebellar ataxia type 36 |
|
|
MONDO:0860730 |
spinocerebellar ataxia type 37 |
GARD:12368 |
MONDO:equivalentTo |
Spinocerebellar ataxia type 37 |
|
|
MONDO:0860731 |
spinocerebellar ataxia type 38 |
GARD:12369 |
MONDO:equivalentTo |
Spinocerebellar ataxia type 38 |
|
|
MONDO:0860732 |
char syndrome |
GARD:1237 |
MONDO:equivalentTo |
Char syndrome |
|
|
MONDO:0860733 |
spinocerebellar ataxia type 40 |
GARD:12371 |
MONDO:equivalentTo |
Spinocerebellar ataxia type 40 |
|
|
MONDO:0860734 |
autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome |
GARD:12372 |
MONDO:equivalentTo |
Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome |
|
|
MONDO:0860735 |
idiopathic cd4 lymphocytopenia |
GARD:12375 |
MONDO:equivalentTo |
Idiopathic CD4 lymphocytopenia |
|
|
MONDO:0860736 |
sudden infant death-dysgenesis of the testes syndrome |
GARD:12382 |
MONDO:equivalentTo |
Sudden infant death-dysgenesis of the testes syndrome |
|
|
MONDO:0860737 |
vasculitis due to ada2 deficiency |
GARD:12383 |
MONDO:equivalentTo |
Vasculitis due to ADA2 deficiency |
|
|
MONDO:0860738 |
hypopigmentation-punctate palmoplantar keratoderma syndrome |
GARD:12384 |
MONDO:equivalentTo |
Hypopigmentation-punctate palmoplantar keratoderma syndrome |
|
|
MONDO:0860739 |
male infertility due to large-headed multiflagellar polyploid spermatozoa |
GARD:12385 |
MONDO:equivalentTo |
Male infertility due to large-headed multiflagellar polyploid spermatozoa |
|
|
MONDO:0860740 |
proximal 16p11.2 microduplication syndrome |
GARD:12388 |
MONDO:equivalentTo |
Proximal 16p11.2 microduplication syndrome |
|
|
MONDO:0860741 |
schnitzler syndrome |
GARD:12390 |
MONDO:equivalentTo |
Schnitzler syndrome |
|
|
MONDO:0860742 |
dk1-cdg |
GARD:12393 |
MONDO:equivalentTo |
DK1-CDG |
|
|
MONDO:0860743 |
rft1-cdg |
GARD:12394 |
MONDO:equivalentTo |
RFT1-CDG |
|
|
MONDO:0860744 |
dpm3-cdg |
GARD:12395 |
MONDO:equivalentTo |
DPM3-CDG |
|
|
MONDO:0860745 |
alg11-cdg |
GARD:12396 |
MONDO:equivalentTo |
ALG11-CDG |
|
|
MONDO:0860746 |
srd5a3-cdg |
GARD:12397 |
MONDO:equivalentTo |
SRD5A3-CDG |
|
|
MONDO:0860747 |
ddost-cdg |
GARD:12398 |
MONDO:equivalentTo |
DDOST-CDG |
|
|
MONDO:0860748 |
x-linked charcot-marie-tooth disease type 4 |
GARD:1240 |
MONDO:equivalentTo |
X-linked Charcot-Marie-Tooth disease type 4 |
|
|
MONDO:0860749 |
alg13-cdg |
GARD:12401 |
MONDO:equivalentTo |
ALG13-CDG |
|
|
MONDO:0860750 |
slc35a2-cdg |
GARD:12403 |
MONDO:equivalentTo |
SLC35A2-CDG |
|
|
MONDO:0860751 |
ssr4-cdg |
GARD:12405 |
MONDO:equivalentTo |
SSR4-CDG |
|
|
MONDO:0860752 |
slc35a1-cdg |
GARD:12409 |
MONDO:equivalentTo |
SLC35A1-CDG |
|
|
MONDO:0860753 |
cog8-cdg |
GARD:12411 |
MONDO:equivalentTo |
COG8-CDG |
|
|
MONDO:0860754 |
cog4-cdg |
GARD:12412 |
MONDO:equivalentTo |
COG4-CDG |
|
|
MONDO:0860755 |
tmem165-cdg |
GARD:12413 |
MONDO:equivalentTo |
TMEM165-CDG |
|
|
MONDO:0860756 |
congenital muscular dystrophy with intellectual disability and severe epilepsy |
GARD:12416 |
MONDO:equivalentTo |
Congenital muscular dystrophy with intellectual disability and severe epilepsy |
|
|
MONDO:0860757 |
man1b1-cdg |
GARD:12417 |
MONDO:equivalentTo |
MAN1B1-CDG |
|
|
MONDO:0860758 |
partial duplication of the short arm of chromosome x |
GARD:12421 |
MONDO:equivalentTo |
Partial duplication of the short arm of chromosome X |
|
|
MONDO:0860759 |
congenital intrauterine infection-like syndrome |
GARD:12426 |
MONDO:equivalentTo |
Congenital intrauterine infection-like syndrome |
|
|
MONDO:0860760 |
cutaneous collagenous vasculopathy |
GARD:12428 |
MONDO:equivalentTo |
Cutaneous collagenous vasculopathy |
|
|
MONDO:0860761 |
autosomal dominant charcot-marie-tooth disease type 2n |
GARD:12429 |
MONDO:equivalentTo |
Autosomal dominant Charcot-Marie-Tooth disease type 2N |
|
|
MONDO:0860762 |
x-linked charcot-marie-tooth disease type 2 |
GARD:1243 |
MONDO:equivalentTo |
X-linked Charcot-Marie-Tooth disease type 2 |
|
|
MONDO:0860763 |
autosomal dominant charcot-marie-tooth disease type 2 |
GARD:12431 |
MONDO:equivalentTo |
Autosomal dominant Charcot-Marie-Tooth disease type 2 |
|
|
MONDO:0860764 |
autosomal dominant charcot-marie-tooth disease type 2l |
GARD:12432 |
MONDO:equivalentTo |
Autosomal dominant Charcot-Marie-Tooth disease type 2L |
|
|
MONDO:0860765 |
charcot-marie-tooth disease type 1 |
GARD:12433 |
MONDO:equivalentTo |
Charcot-Marie-Tooth disease type 1 |
|
|
MONDO:0860766 |
autosomal dominant charcot-marie-tooth disease type 2o |
GARD:12434 |
MONDO:equivalentTo |
Autosomal dominant Charcot-Marie-Tooth disease type 2O |
|
|
MONDO:0860767 |
charcot-marie-tooth disease type 2p |
GARD:12435 |
MONDO:equivalentTo |
Charcot-Marie-Tooth disease type 2P |
|
|
MONDO:0860768 |
autosomal dominant intermediate charcot-marie-tooth disease |
GARD:12436 |
MONDO:equivalentTo |
Autosomal dominant intermediate Charcot-Marie-Tooth disease |
|
|
MONDO:0860769 |
autosomal dominant intermediate charcot-marie-tooth disease type a |
GARD:12437 |
MONDO:equivalentTo |
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A |
|
|
MONDO:0860770 |
autosomal dominant intermediate charcot-marie-tooth disease type b |
GARD:12438 |
MONDO:equivalentTo |
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B |
|
|
MONDO:0860771 |
autosomal dominant intermediate charcot-marie-tooth disease type c |
GARD:12439 |
MONDO:equivalentTo |
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C |
|
|
MONDO:0860772 |
x-linked charcot-marie-tooth disease type 3 |
GARD:1244 |
MONDO:equivalentTo |
X-linked Charcot-Marie-Tooth disease type 3 |
|
|
MONDO:0860773 |
charcot-marie-tooth disease type 4 |
GARD:12440 |
MONDO:equivalentTo |
Charcot-Marie-Tooth disease type 4 |
|
|
MONDO:0860774 |
charcot-marie-tooth disease type 4f |
GARD:12441 |
MONDO:equivalentTo |
Charcot-Marie-Tooth disease type 4F |
|
|
MONDO:0860775 |
charcot-marie-tooth disease type 4h |
GARD:12442 |
MONDO:equivalentTo |
Charcot-Marie-Tooth disease type 4H |
|
|
MONDO:0860776 |
charcot-marie-tooth disease type 4j |
GARD:12443 |
MONDO:equivalentTo |
Charcot-Marie-Tooth disease type 4J |
|
|
MONDO:0860777 |
x-linked charcot-marie-tooth disease |
GARD:12444 |
MONDO:equivalentTo |
X-linked Charcot-Marie-Tooth disease |
|
|
MONDO:0860778 |
x-linked charcot-marie-tooth disease type 6 |
GARD:12445 |
MONDO:equivalentTo |
X-linked Charcot-Marie-Tooth disease type 6 |
|
|
MONDO:0860779 |
autosomal dominant charcot-marie-tooth disease type 2q |
GARD:12446 |
MONDO:equivalentTo |
Autosomal dominant Charcot-Marie-Tooth disease type 2Q |
|
|
MONDO:0860780 |
autosomal dominant charcot-marie-tooth disease type 2 with giant axons |
GARD:12447 |
MONDO:equivalentTo |
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons |
|
|
MONDO:0860781 |
autosomal recessive charcot-marie-tooth disease with hoarseness |
GARD:12448 |
MONDO:equivalentTo |
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness |
|
|
MONDO:0860782 |
autosomal recessive axonal hereditary motor and sensory neuropathy |
GARD:12449 |
MONDO:equivalentTo |
Autosomal recessive axonal hereditary motor and sensory neuropathy |
|
|
MONDO:0860783 |
charcot-marie-tooth disease type 1a |
GARD:1245 |
MONDO:equivalentTo |
Charcot-Marie-Tooth disease type 1A |
|
|
MONDO:0860784 |
charcot-marie-tooth disease type 2r |
GARD:12451 |
MONDO:equivalentTo |
Charcot-Marie-Tooth disease type 2R |
|
|
MONDO:0860785 |
autosomal recessive intermediate charcot-marie-tooth disease |
GARD:12452 |
MONDO:equivalentTo |
Autosomal recessive intermediate Charcot-Marie-Tooth disease |
|
|
MONDO:0860786 |
autosomal recessive intermediate charcot-marie-tooth disease type a |
GARD:12453 |
MONDO:equivalentTo |
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A |
|
|
MONDO:0860787 |
autosomal recessive intermediate charcot-marie-tooth disease type b |
GARD:12454 |
MONDO:equivalentTo |
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B |
|
|
MONDO:0860788 |
sickle cell-hemoglobin d disease syndrome |
GARD:12458 |
MONDO:equivalentTo |
Sickle cell-hemoglobin D disease syndrome |
|
|
MONDO:0860789 |
sickle cell disease associated with another hemoglobin anomaly |
GARD:12459 |
MONDO:equivalentTo |
Sickle cell disease associated with another hemoglobin anomaly |
|
|
MONDO:0860790 |
charcot-marie-tooth disease type 1b |
GARD:1246 |
MONDO:equivalentTo |
Charcot-Marie-Tooth disease type 1B |
|
|
MONDO:0860791 |
glutaric acidemia type 3 |
GARD:12469 |
MONDO:equivalentTo |
Glutaric acidemia type 3 |
|
|
MONDO:0860792 |
charcot-marie-tooth disease type 1c |
GARD:1247 |
MONDO:equivalentTo |
Charcot-Marie-Tooth disease type 1C |
|
|
MONDO:0860793 |
peroxisomal beta-oxidation disorder |
GARD:12470 |
MONDO:equivalentTo |
Peroxisomal beta-oxidation disorder |
|
|
MONDO:0860794 |
leukoencephalopathy-dystonia-motor neuropathy syndrome |
GARD:12471 |
MONDO:equivalentTo |
Leukoencephalopathy-dystonia-motor neuropathy syndrome |
|
|
MONDO:0860795 |
cadds |
GARD:12472 |
MONDO:equivalentTo |
CADDS |
|
|
MONDO:0860796 |
periodontal ehlers-danlos syndrome |
GARD:12474 |
MONDO:equivalentTo |
Periodontal Ehlers-Danlos syndrome |
|
|
MONDO:0860797 |
disorder of peroxisomal alpha-, beta- and omega-oxidation |
GARD:12476 |
MONDO:equivalentTo |
Disorder of peroxisomal alpha-, beta- and omega-oxidation |
|
|
MONDO:0860798 |
bleeding disorder due to p2y12 defect |
GARD:12478 |
MONDO:equivalentTo |
Bleeding disorder due to P2Y12 defect |
|
|
MONDO:0860799 |
autosomal dominant charcot-marie-tooth disease type 2a1 |
GARD:1248 |
MONDO:equivalentTo |
Autosomal dominant Charcot-Marie-Tooth disease type 2A1 |
|
|
MONDO:0860800 |
tetrasomy 21 |
GARD:12480 |
MONDO:equivalentTo |
Tetrasomy 21 |
|
|
MONDO:0860801 |
cor triatriatum dexter |
GARD:12483 |
MONDO:equivalentTo |
Cor triatriatum dexter |
|
|
MONDO:0860802 |
cor triatriatum sinister |
GARD:12484 |
MONDO:equivalentTo |
Cor triatriatum sinister |
|
|
MONDO:0860803 |
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome |
GARD:12486 |
MONDO:equivalentTo |
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome |
|
|
MONDO:0860804 |
intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome |
GARD:12487 |
MONDO:equivalentTo |
Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome |
|
|
MONDO:0860805 |
charcot-marie-tooth disease type 2b2 |
GARD:1249 |
MONDO:equivalentTo |
Charcot-Marie-Tooth disease type 2B2 |
|
|
MONDO:0860806 |
x-linked lissencephaly with abnormal genitalia |
GARD:12491 |
MONDO:equivalentTo |
X-linked lissencephaly with abnormal genitalia |
|
|
MONDO:0860807 |
20p12.3 microdeletion syndrome |
GARD:12492 |
MONDO:equivalentTo |
20p12.3 microdeletion syndrome |
|
|
MONDO:0860808 |
aromatase excess syndrome |
GARD:12494 |
MONDO:equivalentTo |
Aromatase excess syndrome |
|
|
MONDO:0860809 |
acrokeratoelastoidosis of costa |
GARD:125 |
MONDO:equivalentTo |
Acrokeratoelastoidosis of Costa |
|
|
MONDO:0860810 |
autosomal dominant charcot-marie-tooth disease type 2c |
GARD:1250 |
MONDO:equivalentTo |
Autosomal dominant Charcot-Marie-Tooth disease type 2C |
|
|
MONDO:0860811 |
intellectual disability-severe speech delay-mild dysmorphism syndrome |
GARD:12501 |
MONDO:equivalentTo |
Intellectual disability-severe speech delay-mild dysmorphism syndrome |
|
|
MONDO:0860812 |
male infertility due to globozoospermia |
GARD:12502 |
MONDO:equivalentTo |
Male infertility due to globozoospermia |
|
|
MONDO:0860813 |
atypical gaucher disease due to saposin c deficiency |
GARD:12503 |
MONDO:equivalentTo |
Atypical Gaucher disease due to saposin C deficiency |
|
|
MONDO:0860814 |
gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome |
GARD:12504 |
MONDO:equivalentTo |
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome |
|
|
MONDO:0860815 |
encephalopathy due to prosaposin deficiency |
GARD:12505 |
MONDO:equivalentTo |
Encephalopathy due to prosaposin deficiency |
|
|
MONDO:0860816 |
autosomal dominant charcot-marie-tooth disease type 2d |
GARD:1251 |
MONDO:equivalentTo |
Autosomal dominant Charcot-Marie-Tooth disease type 2D |
|
|
MONDO:0860817 |
gangliosidosis |
GARD:12510 |
MONDO:equivalentTo |
Gangliosidosis |
|
|
MONDO:0860818 |
lipid storage disease |
GARD:12511 |
MONDO:equivalentTo |
Lipid storage disease |
|
|
MONDO:0860819 |
male infertility with spermatogenesis disorder due to single gene mutation |
GARD:12513 |
MONDO:equivalentTo |
Male infertility with spermatogenesis disorder due to single gene mutation |
|
|
MONDO:0860820 |
charcot-marie-tooth disease type 4a |
GARD:1252 |
MONDO:equivalentTo |
Charcot-Marie-Tooth disease type 4A |
|
|
MONDO:0860821 |
igg4-related disease |
GARD:12521 |
MONDO:equivalentTo |
IgG4-related disease |
|
|
MONDO:0860822 |
l1 syndrome |
GARD:12524 |
MONDO:equivalentTo |
L1 syndrome |
|
|
MONDO:0860823 |
x-linked complicated spastic paraplegia type 1 |
GARD:12525 |
MONDO:equivalentTo |
X-linked complicated spastic paraplegia type 1 |
|
|
MONDO:0860824 |
x-linked complicated corpus callosum dysgenesis |
GARD:12526 |
MONDO:equivalentTo |
X-linked complicated corpus callosum dysgenesis |
|
|
MONDO:0860825 |
dnajb6-related limb-girdle muscular dystrophy d1 |
GARD:12528 |
MONDO:equivalentTo |
DNAJB6-related limb-girdle muscular dystrophy D1 |
|
|
MONDO:0860826 |
charcot-marie-tooth disease type 4b1 |
GARD:1253 |
MONDO:equivalentTo |
Charcot-Marie-Tooth disease type 4B1 |
|
|
MONDO:0860827 |
tnp03-related limb-girdle muscular dystrophy d2 |
GARD:12530 |
MONDO:equivalentTo |
TNP03-related limb-girdle muscular dystrophy D2 |
|
|
MONDO:0860828 |
hnrnpdl-related limb-girdle muscular dystrophy d3 |
GARD:12531 |
MONDO:equivalentTo |
HNRNPDL-related limb-girdle muscular dystrophy D3 |
|
|
MONDO:0860829 |
autosomal dominant limb-girdle muscular dystrophy type 1h |
GARD:12532 |
MONDO:equivalentTo |
Autosomal dominant limb-girdle muscular dystrophy type 1H |
|
|
MONDO:0860830 |
fkrp-related limb-girdle muscular dystrophy r9 |
GARD:12533 |
MONDO:equivalentTo |
FKRP-related limb-girdle muscular dystrophy R9 |
|
|
MONDO:0860831 |
titin-related limb-girdle muscular dystrophy r10 |
GARD:12534 |
MONDO:equivalentTo |
Titin-related limb-girdle muscular dystrophy R10 |
|
|
MONDO:0860832 |
pomt1-related limb-girdle muscular dystrophy r11 |
GARD:12535 |
MONDO:equivalentTo |
POMT1-related limb-girdle muscular dystrophy R11 |
|
|
MONDO:0860833 |
anoctamin-5-related limb-girdle muscular dystrophy r12 |
GARD:12536 |
MONDO:equivalentTo |
Anoctamin-5-related limb-girdle muscular dystrophy R12 |
|
|
MONDO:0860834 |
fukutin-related limb-girdle muscular dystrophy r13 |
GARD:12538 |
MONDO:equivalentTo |
Fukutin-related limb-girdle muscular dystrophy R13 |
|
|
MONDO:0860835 |
pomt2-related limb-girdle muscular dystrophy r14 |
GARD:12539 |
MONDO:equivalentTo |
POMT2-related limb-girdle muscular dystrophy R14 |
|
|
MONDO:0860836 |
pomgnt1-related limb-girdle muscular dystrophy r15 |
GARD:12540 |
MONDO:equivalentTo |
POMGNT1-related limb-girdle muscular dystrophy R15 |
|
|
MONDO:0860837 |
alpha-dystroglycan-related limb-girdle muscular dystrophy r16 |
GARD:12541 |
MONDO:equivalentTo |
Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 |
|
|
MONDO:0860838 |
plectin-related limb-girdle muscular dystrophy r17 |
GARD:12542 |
MONDO:equivalentTo |
Plectin-related limb-girdle muscular dystrophy R17 |
|
|
MONDO:0860839 |
trappc11-related limb-girdle muscular dystrophy r18 |
GARD:12543 |
MONDO:equivalentTo |
TRAPPC11-related limb-girdle muscular dystrophy R18 |
|
|
MONDO:0860840 |
gmppb-related limb-girdle muscular dystrophy r19 |
GARD:12544 |
MONDO:equivalentTo |
GMPPB-related limb-girdle muscular dystrophy R19 |
|
|
MONDO:0860841 |
selective igm deficiency |
GARD:12547 |
MONDO:equivalentTo |
Selective IgM deficiency |
|
|
MONDO:0860842 |
isolated congenital adermatoglyphia |
GARD:12550 |
MONDO:equivalentTo |
Isolated congenital adermatoglyphia |
|
|
MONDO:0860843 |
familial congenital mirror movements |
GARD:12551 |
MONDO:equivalentTo |
Familial congenital mirror movements |
|
|
MONDO:0860844 |
non-acquired isolated growth hormone deficiency |
GARD:12556 |
MONDO:equivalentTo |
Non-acquired isolated growth hormone deficiency |
|
|
MONDO:0860845 |
hurler syndrome |
GARD:12559 |
MONDO:equivalentTo |
Hurler syndrome |
|
|
MONDO:0860846 |
hurler-scheie syndrome |
GARD:12560 |
MONDO:equivalentTo |
Hurler-Scheie syndrome |
|
|
MONDO:0860847 |
scheie syndrome |
GARD:12561 |
MONDO:equivalentTo |
Scheie syndrome |
|
|
MONDO:0860848 |
mucopolysaccharidosis type 4 |
GARD:12562 |
MONDO:equivalentTo |
Mucopolysaccharidosis type 4 |
|
|
MONDO:0860849 |
pla2g6-associated neurodegeneration |
GARD:12567 |
MONDO:equivalentTo |
PLA2G6-associated neurodegeneration |
|
|
MONDO:0860850 |
adult-onset dystonia-parkinsonism |
GARD:12568 |
MONDO:equivalentTo |
Adult-onset dystonia-parkinsonism |
|
|
MONDO:0860851 |
mitochondrial membrane protein-associated neurodegeneration |
GARD:12569 |
MONDO:equivalentTo |
Mitochondrial membrane protein-associated neurodegeneration |
|
|
MONDO:0860852 |
beta-propeller protein-associated neurodegeneration |
GARD:12570 |
MONDO:equivalentTo |
Beta-propeller protein-associated neurodegeneration |
|
|
MONDO:0860853 |
coasy protein-associated neurodegeneration |
GARD:12571 |
MONDO:equivalentTo |
COASY protein-associated neurodegeneration |
|
|
MONDO:0860854 |
x-linked charcot-marie-tooth disease type 1 |
GARD:1258 |
MONDO:equivalentTo |
X-linked Charcot-Marie-Tooth disease type 1 |
|
|
MONDO:0860855 |
congenital muscular dystrophy due to dystroglycanopathy |
GARD:12584 |
MONDO:equivalentTo |
Congenital muscular dystrophy due to dystroglycanopathy |
|
|
MONDO:0860856 |
congenital muscular dystrophy due to lmna mutation |
GARD:12585 |
MONDO:equivalentTo |
Congenital muscular dystrophy due to LMNA mutation |
|
|
MONDO:0860857 |
congenital muscular dystrophy type 1b |
GARD:12586 |
MONDO:equivalentTo |
Congenital muscular dystrophy type 1B |
|
|
MONDO:0860858 |
congenital muscular dystrophy with integrin alpha-7 deficiency |
GARD:12587 |
MONDO:equivalentTo |
Congenital muscular dystrophy with integrin alpha-7 deficiency |
|
|
MONDO:0860859 |
congenital muscular alpha-dystroglycanopathy with brain and eye anomalies |
GARD:12588 |
MONDO:equivalentTo |
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies |
|
|
MONDO:0860860 |
congenital fibrosis of extraocular muscles |
GARD:12590 |
MONDO:equivalentTo |
Congenital fibrosis of extraocular muscles |
|
|
MONDO:0860861 |
hereditary myopathy with early respiratory failure |
GARD:12591 |
MONDO:equivalentTo |
Hereditary myopathy with early respiratory failure |
|
|
MONDO:0860862 |
oculopharyngodistal myopathy |
GARD:12592 |
MONDO:equivalentTo |
Oculopharyngodistal myopathy |
|
|
MONDO:0860863 |
primary lipodystrophy |
GARD:12596 |
MONDO:equivalentTo |
Primary lipodystrophy |
|
|
MONDO:0860864 |
genetic lipodystrophy |
GARD:12597 |
MONDO:equivalentTo |
Genetic lipodystrophy |
|
|
MONDO:0860865 |
familial partial lipodystrophy, köbberling type |
GARD:12598 |
MONDO:equivalentTo |
Familial partial lipodystrophy, Köbberling type |
|
|
MONDO:0860866 |
akt2-related familial partial lipodystrophy |
GARD:12599 |
MONDO:equivalentTo |
AKT2-related familial partial lipodystrophy |
|
|
MONDO:0860867 |
pparg-related familial partial lipodystrophy |
GARD:12600 |
MONDO:equivalentTo |
PPARG-related familial partial lipodystrophy |
|
|
MONDO:0860868 |
plin1-related familial partial lipodystrophy |
GARD:12601 |
MONDO:equivalentTo |
PLIN1-related familial partial lipodystrophy |
|
|
MONDO:0860869 |
acquired lipodystrophy |
GARD:12602 |
MONDO:equivalentTo |
Acquired lipodystrophy |
|
|
MONDO:0860870 |
acquired generalized lipodystrophy |
GARD:12603 |
MONDO:equivalentTo |
Acquired generalized lipodystrophy |
|
|
MONDO:0860871 |
lipodystrophy due to peptidic growth factors deficiency |
GARD:12604 |
MONDO:equivalentTo |
Lipodystrophy due to peptidic growth factors deficiency |
|
|
MONDO:0860872 |
charlie m syndrome |
GARD:1261 |
MONDO:equivalentTo |
Charlie M syndrome |
|
|
MONDO:0860873 |
slc39a13-related spondylodysplastic ehlers-danlos syndrome |
GARD:12610 |
MONDO:equivalentTo |
SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome |
|
|
MONDO:0860874 |
cardiac-valvular ehlers-danlos syndrome |
GARD:12613 |
MONDO:equivalentTo |
Cardiac-valvular Ehlers-Danlos syndrome |
|
|
MONDO:0860875 |
methylmalonic acidemia with homocystinuria, type cblj |
GARD:12621 |
MONDO:equivalentTo |
Methylmalonic acidemia with homocystinuria, type cblJ |
|
|
MONDO:0860876 |
vitamin b12-responsive methylmalonic acidemia |
GARD:12623 |
MONDO:equivalentTo |
Vitamin B12-responsive methylmalonic acidemia |
|
|
MONDO:0860877 |
stapes ankylosis with broad thumbs and toes |
GARD:12631 |
MONDO:equivalentTo |
Stapes ankylosis with broad thumbs and toes |
|
|
MONDO:0860878 |
multiple mitochondrial dysfunctions syndrome |
GARD:12632 |
MONDO:equivalentTo |
Multiple mitochondrial dysfunctions syndrome |
|
|
MONDO:0860879 |
laurence-moon syndrome |
GARD:12635 |
MONDO:equivalentTo |
Laurence-Moon syndrome |
|
|
MONDO:0860880 |
bacterial susceptibility due to tlr signaling pathway deficiency |
GARD:12638 |
MONDO:equivalentTo |
Bacterial susceptibility due to TLR signaling pathway deficiency |
|
|
MONDO:0860881 |
frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome |
GARD:12640 |
MONDO:equivalentTo |
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome |
|
|
MONDO:0860882 |
frontonasal dysplasia-alopecia-genital anomalies syndrome |
GARD:12641 |
MONDO:equivalentTo |
Frontonasal dysplasia-alopecia-genital anomalies syndrome |
|
|
MONDO:0860883 |
frontorhiny |
GARD:12642 |
MONDO:equivalentTo |
Frontorhiny |
|
|
MONDO:0860884 |
lethal congenital contracture syndrome |
GARD:12643 |
MONDO:equivalentTo |
Lethal congenital contracture syndrome |
|
|
MONDO:0860885 |
lethal congenital contracture syndrome type 3 |
GARD:12644 |
MONDO:equivalentTo |
Lethal congenital contracture syndrome type 3 |
|
|
MONDO:0860886 |
isolated congenital megalocornea |
GARD:12648 |
MONDO:equivalentTo |
Isolated congenital megalocornea |
|
|
MONDO:0860887 |
amoebiasis due to free-living amoebae |
GARD:12650 |
MONDO:equivalentTo |
Amoebiasis due to free-living amoebae |
|
|
MONDO:0860888 |
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome |
GARD:12652 |
MONDO:equivalentTo |
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome |
|
|
MONDO:0860889 |
dock2 deficiency |
GARD:12653 |
MONDO:equivalentTo |
DOCK2 deficiency |
|
|
MONDO:0860890 |
castleman disease |
GARD:12656 |
MONDO:equivalentTo |
Castleman disease |
|
|
MONDO:0860891 |
cerebrofacial arteriovenous metameric syndrome |
GARD:12662 |
MONDO:equivalentTo |
Cerebrofacial arteriovenous metameric syndrome |
|
|
MONDO:0860892 |
facial arteriovenous malformation |
GARD:12663 |
MONDO:equivalentTo |
Facial arteriovenous malformation |
|
|
MONDO:0860893 |
congenital adrenal hyperplasia due to cytochrome p450 oxidoreductase deficiency |
GARD:12664 |
MONDO:equivalentTo |
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
|
|
MONDO:0860894 |
classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency |
GARD:12665 |
MONDO:equivalentTo |
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency |
|
|
MONDO:0860895 |
x-linked intellectual disability, najm type |
GARD:12669 |
MONDO:equivalentTo |
X-linked intellectual disability, Najm type |
|
|
MONDO:0860896 |
actinic lichen planus |
GARD:12673 |
MONDO:equivalentTo |
Actinic lichen planus |
|
|
MONDO:0860897 |
annular lichen planus |
GARD:12674 |
MONDO:equivalentTo |
Annular lichen planus |
|
|
MONDO:0860898 |
atrophic lichen planus |
GARD:12675 |
MONDO:equivalentTo |
Atrophic lichen planus |
|
|
MONDO:0860899 |
annular atrophic lichen planus |
GARD:12676 |
MONDO:equivalentTo |
Annular atrophic lichen planus |
|
|
MONDO:0860900 |
lichen planus pemphigoides |
GARD:12677 |
MONDO:equivalentTo |
Lichen planus pemphigoides |
|
|
MONDO:0860901 |
lipoic acid synthetase deficiency |
GARD:12678 |
MONDO:equivalentTo |
Lipoic acid synthetase deficiency |
|
|
MONDO:0860902 |
lipoic acid biosynthesis defect |
GARD:12679 |
MONDO:equivalentTo |
Lipoic acid biosynthesis defect |
|
|
MONDO:0860903 |
lipoyl transferase 1 deficiency |
GARD:12680 |
MONDO:equivalentTo |
Lipoyl transferase 1 deficiency |
|
|
MONDO:0860904 |
childhood-onset spasticity with hyperglycinemia |
GARD:12681 |
MONDO:equivalentTo |
Childhood-onset spasticity with hyperglycinemia |
|
|
MONDO:0860905 |
horizontal gaze palsy with progressive scoliosis |
GARD:12682 |
MONDO:equivalentTo |
Horizontal gaze palsy with progressive scoliosis |
|
|
MONDO:0860906 |
distal hereditary motor neuropathy |
GARD:12683 |
MONDO:equivalentTo |
Distal hereditary motor neuropathy |
|
|
MONDO:0860907 |
familial episodic pain syndrome |
GARD:12684 |
MONDO:equivalentTo |
Familial episodic pain syndrome |
|
|
MONDO:0860908 |
diffuse cutaneous mastocytosis |
GARD:12686 |
MONDO:equivalentTo |
Diffuse cutaneous mastocytosis |
|
|
MONDO:0860909 |
cutaneous mastocytoma |
GARD:12687 |
MONDO:equivalentTo |
Cutaneous mastocytoma |
|
|
MONDO:0860910 |
hereditary sensory and autonomic neuropathy |
GARD:12688 |
MONDO:equivalentTo |
Hereditary sensory and autonomic neuropathy |
|
|
MONDO:0860911 |
tumor of cranial and spinal nerves |
GARD:12697 |
MONDO:equivalentTo |
Tumor of cranial and spinal nerves |
|
|
MONDO:0860912 |
perineurioma |
GARD:12698 |
MONDO:equivalentTo |
Perineurioma |
|
|
MONDO:0860913 |
summitt syndrome |
GARD:127 |
MONDO:equivalentTo |
Summitt syndrome |
|
|
MONDO:0860914 |
osteochondritis dissecans |
GARD:12703 |
MONDO:equivalentTo |
Osteochondritis dissecans |
|
|
MONDO:0860915 |
osteochondrosis |
GARD:12704 |
MONDO:equivalentTo |
Osteochondrosis |
|
|
MONDO:0860916 |
painful legs and moving toes syndrome |
GARD:12706 |
MONDO:equivalentTo |
Painful legs and moving toes syndrome |
|
|
MONDO:0860917 |
congenital laryngeal palsy |
GARD:12713 |
MONDO:equivalentTo |
Congenital laryngeal palsy |
|
|
MONDO:0860918 |
x-linked intellectual disability-hypotonia-movement disorder syndrome |
GARD:12715 |
MONDO:equivalentTo |
X-linked intellectual disability-hypotonia-movement disorder syndrome |
|
|
MONDO:0860919 |
elastoderma |
GARD:12716 |
MONDO:equivalentTo |
Elastoderma |
|
|
MONDO:0860920 |
autosomal recessive centronuclear myopathy |
GARD:12718 |
MONDO:equivalentTo |
Autosomal recessive centronuclear myopathy |
|
|
MONDO:0860921 |
autosomal dominant centronuclear myopathy |
GARD:12719 |
MONDO:equivalentTo |
Autosomal dominant centronuclear myopathy |
|
|
MONDO:0860922 |
fingerprint body myopathy |
GARD:12720 |
MONDO:equivalentTo |
Fingerprint body myopathy |
|
|
MONDO:0860923 |
familial dyskinesia and facial myokymia |
GARD:12722 |
MONDO:equivalentTo |
Familial dyskinesia and facial myokymia |
|
|
MONDO:0860924 |
periventricular nodular heterotopia |
GARD:12724 |
MONDO:equivalentTo |
Periventricular nodular heterotopia |
|
|
MONDO:0860925 |
x-linked hereditary sensory and autonomic neuropathy with deafness |
GARD:12731 |
MONDO:equivalentTo |
X-linked hereditary sensory and autonomic neuropathy with deafness |
|
|
MONDO:0860926 |
hereditary sensory and autonomic neuropathy type 7 |
GARD:12732 |
MONDO:equivalentTo |
Hereditary sensory and autonomic neuropathy type 7 |
|
|
MONDO:0860927 |
rare hereditary disease with peripheral neuropathy |
GARD:12733 |
MONDO:equivalentTo |
Rare hereditary disease with peripheral neuropathy |
|
|
MONDO:0860928 |
glomerular disease |
GARD:12736 |
MONDO:equivalentTo |
Glomerular disease |
|
|
MONDO:0860929 |
pierre robin syndrome-faciodigital anomaly syndrome |
GARD:1274 |
MONDO:equivalentTo |
Pierre Robin syndrome-faciodigital anomaly syndrome |
|
|
MONDO:0860930 |
non-amyloid fibrillary glomerulopathy |
GARD:12740 |
MONDO:equivalentTo |
Non-amyloid fibrillary glomerulopathy |
|
|
MONDO:0860931 |
immunotactoid or fibrillary glomerulopathy |
GARD:12741 |
MONDO:equivalentTo |
Immunotactoid or fibrillary glomerulopathy |
|
|
MONDO:0860932 |
juvenile polymyositis |
GARD:12742 |
MONDO:equivalentTo |
Juvenile polymyositis |
|
|
MONDO:0860933 |
chronic intestinal pseudoobstruction |
GARD:12744 |
MONDO:equivalentTo |
Chronic intestinal pseudoobstruction |
|
|
MONDO:0860934 |
autosomal recessive spastic paraplegia type 32 |
GARD:12749 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 32 |
|
|
MONDO:0860935 |
acute myeloid leukemia |
GARD:12757 |
MONDO:equivalentTo |
Acute myeloid leukemia |
|
|
MONDO:0860936 |
acute myeloid leukemia with recurrent genetic anomaly |
GARD:12758 |
MONDO:equivalentTo |
Acute myeloid leukemia with recurrent genetic anomaly |
|
|
MONDO:0860937 |
acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) |
GARD:12759 |
MONDO:equivalentTo |
Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) |
|
|
MONDO:0860938 |
unclassified acute myeloid leukemia |
GARD:12760 |
MONDO:equivalentTo |
Unclassified acute myeloid leukemia |
|
|
MONDO:0860939 |
acute myeloid leukaemia with myelodysplasia-related features |
GARD:12761 |
MONDO:equivalentTo |
Acute myeloid leukaemia with myelodysplasia-related features |
|
|
MONDO:0860940 |
therapy related acute myeloid leukemia and myelodysplastic syndrome |
GARD:12762 |
MONDO:equivalentTo |
Therapy related acute myeloid leukemia and myelodysplastic syndrome |
|
|
MONDO:0860941 |
myeloid sarcoma |
GARD:12763 |
MONDO:equivalentTo |
Myeloid sarcoma |
|
|
MONDO:0860942 |
transient myeloproliferative syndrome |
GARD:12765 |
MONDO:equivalentTo |
Transient myeloproliferative syndrome |
|
|
MONDO:0860943 |
microduplication xp11.22p11.23 syndrome |
GARD:12766 |
MONDO:equivalentTo |
Microduplication Xp11.22p11.23 syndrome |
|
|
MONDO:0860944 |
reversible cerebral vasoconstriction syndrome |
GARD:12768 |
MONDO:equivalentTo |
Reversible cerebral vasoconstriction syndrome |
|
|
MONDO:0860945 |
rare malignant breast tumor |
GARD:12772 |
MONDO:equivalentTo |
Rare malignant breast tumor |
|
|
MONDO:0860946 |
rare adenocarcinoma of the breast |
GARD:12773 |
MONDO:equivalentTo |
Rare adenocarcinoma of the breast |
|
|
MONDO:0860947 |
salivary gland type cancer of the breast |
GARD:12774 |
MONDO:equivalentTo |
Salivary gland type cancer of the breast |
|
|
MONDO:0860948 |
rare benign breast tumor |
GARD:12775 |
MONDO:equivalentTo |
Rare benign breast tumor |
|
|
MONDO:0860949 |
multiple congenital anomalies-hypotonia-seizures syndrome type 2 |
GARD:12777 |
MONDO:equivalentTo |
Multiple congenital anomalies-hypotonia-seizures syndrome type 2 |
|
|
MONDO:0860950 |
familial retinal arterial macroaneurysm |
GARD:12779 |
MONDO:equivalentTo |
Familial retinal arterial macroaneurysm |
|
|
MONDO:0860951 |
multiple congenital anomalies-hypotonia-seizures syndrome |
GARD:12781 |
MONDO:equivalentTo |
Multiple congenital anomalies-hypotonia-seizures syndrome |
|
|
MONDO:0860952 |
congenital disorder of glycosylation with developmental anomaly |
GARD:12782 |
MONDO:equivalentTo |
Congenital disorder of glycosylation with developmental anomaly |
|
|
MONDO:0860953 |
livedoid vasculopathy |
GARD:12784 |
MONDO:equivalentTo |
Livedoid vasculopathy |
|
|
MONDO:0860954 |
autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form |
GARD:12794 |
MONDO:equivalentTo |
Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form |
|
|
MONDO:0860955 |
dentinogenesis imperfecta type 2 |
GARD:12796 |
MONDO:equivalentTo |
Dentinogenesis imperfecta type 2 |
|
|
MONDO:0860956 |
early-onset autosomal dominant alzheimer disease |
GARD:12798 |
MONDO:equivalentTo |
Early-onset autosomal dominant Alzheimer disease |
|
|
MONDO:0860957 |
primary sclerosing cholangitis |
GARD:1280 |
MONDO:equivalentTo |
Primary sclerosing cholangitis |
|
|
MONDO:0860958 |
pten hamartoma tumor syndrome |
GARD:12800 |
MONDO:equivalentTo |
PTEN hamartoma tumor syndrome |
|
|
MONDO:0860959 |
proteus-like syndrome |
GARD:12801 |
MONDO:equivalentTo |
Proteus-like syndrome |
|
|
MONDO:0860960 |
autosomal dominant spondylocostal dysostosis |
GARD:12806 |
MONDO:equivalentTo |
Autosomal dominant spondylocostal dysostosis |
|
|
MONDO:0860961 |
multisystemic smooth muscle dysfunction syndrome |
GARD:12811 |
MONDO:equivalentTo |
Multisystemic smooth muscle dysfunction syndrome |
|
|
MONDO:0860962 |
8q24.3 microdeletion syndrome |
GARD:12814 |
MONDO:equivalentTo |
8q24.3 microdeletion syndrome |
|
|
MONDO:0860963 |
severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome |
GARD:12815 |
MONDO:equivalentTo |
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome |
|
|
MONDO:0860964 |
8q12 microduplication syndrome |
GARD:12816 |
MONDO:equivalentTo |
8q12 microduplication syndrome |
|
|
MONDO:0860965 |
generalized pustular psoriasis |
GARD:12819 |
MONDO:equivalentTo |
Generalized pustular psoriasis |
|
|
MONDO:0860966 |
pustulosis palmaris et plantaris |
GARD:12820 |
MONDO:equivalentTo |
Pustulosis palmaris et plantaris |
|
|
MONDO:0860967 |
severe congenital nemaline myopathy |
GARD:12821 |
MONDO:equivalentTo |
Severe congenital nemaline myopathy |
|
|
MONDO:0860968 |
typical nemaline myopathy |
GARD:12822 |
MONDO:equivalentTo |
Typical nemaline myopathy |
|
|
MONDO:0860969 |
intermediate nemaline myopathy |
GARD:12823 |
MONDO:equivalentTo |
Intermediate nemaline myopathy |
|
|
MONDO:0860970 |
adult-onset nemaline myopathy |
GARD:12824 |
MONDO:equivalentTo |
Adult-onset nemaline myopathy |
|
|
MONDO:0860971 |
foxg1 syndrome |
GARD:12825 |
MONDO:equivalentTo |
FOXG1 syndrome |
|
|
MONDO:0860972 |
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome |
GARD:12827 |
MONDO:equivalentTo |
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome |
|
|
MONDO:0860973 |
pulmonary non-tuberculous mycobacterial infection |
GARD:12829 |
MONDO:equivalentTo |
Pulmonary non-tuberculous mycobacterial infection |
|
|
MONDO:0860974 |
acute interstitial pneumonia |
GARD:12835 |
MONDO:equivalentTo |
Acute interstitial pneumonia |
|
|
MONDO:0860975 |
disseminated peritoneal leiomyomatosis |
GARD:12843 |
MONDO:equivalentTo |
Disseminated peritoneal leiomyomatosis |
|
|
MONDO:0860976 |
high myopia-sensorineural deafness syndrome |
GARD:12844 |
MONDO:equivalentTo |
High myopia-sensorineural deafness syndrome |
|
|
MONDO:0860977 |
cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome |
GARD:12845 |
MONDO:equivalentTo |
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome |
|
|
MONDO:0860978 |
paroxysmal extreme pain disorder |
GARD:12854 |
MONDO:equivalentTo |
Paroxysmal extreme pain disorder |
|
|
MONDO:0860979 |
spinocerebellar ataxia with axonal neuropathy type 2 |
GARD:12860 |
MONDO:equivalentTo |
Spinocerebellar ataxia with axonal neuropathy type 2 |
|
|
MONDO:0860980 |
rfvt3-related riboflavin transporter deficiency |
GARD:12861 |
MONDO:equivalentTo |
RFVT3-related riboflavin transporter deficiency |
|
|
MONDO:0860981 |
generalized peeling skin syndrome |
GARD:12862 |
MONDO:equivalentTo |
Generalized peeling skin syndrome |
|
|
MONDO:0860982 |
acral peeling skin syndrome |
GARD:12863 |
MONDO:equivalentTo |
Acral peeling skin syndrome |
|
|
MONDO:0860983 |
hyperlipidemia due to hepatic triacylglycerol lipase deficiency |
GARD:12864 |
MONDO:equivalentTo |
Hyperlipidemia due to hepatic triacylglycerol lipase deficiency |
|
|
MONDO:0860984 |
cushing disease |
GARD:12867 |
MONDO:equivalentTo |
Cushing disease |
|
|
MONDO:0860985 |
irvan syndrome |
GARD:12868 |
MONDO:equivalentTo |
IRVAN syndrome |
|
|
MONDO:0860986 |
progressive familial intrahepatic cholestasis type 2 |
GARD:1288 |
MONDO:equivalentTo |
Progressive familial intrahepatic cholestasis type 2 |
|
|
MONDO:0860987 |
isolated childhood apraxia of speech |
GARD:12889 |
MONDO:equivalentTo |
Isolated childhood apraxia of speech |
|
|
MONDO:0860988 |
progressive familial intrahepatic cholestasis type 3 |
GARD:1289 |
MONDO:equivalentTo |
Progressive familial intrahepatic cholestasis type 3 |
|
|
MONDO:0860989 |
infantile hypertrophic cardiomyopathy due to mrpl44 deficiency |
GARD:12892 |
MONDO:equivalentTo |
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency |
|
|
MONDO:0860990 |
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome |
GARD:12893 |
MONDO:equivalentTo |
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome |
|
|
MONDO:0860991 |
zika virus disease |
GARD:12894 |
MONDO:equivalentTo |
Zika virus disease |
|
|
MONDO:0860992 |
optic atrophy-intellectual disability syndrome |
GARD:12903 |
MONDO:equivalentTo |
Optic atrophy-intellectual disability syndrome |
|
|
MONDO:0860993 |
polyhydramnios-megalencephaly-symptomatic epilepsy syndrome |
GARD:12913 |
MONDO:equivalentTo |
Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome |
|
|
MONDO:0860994 |
x-linked mendelian susceptibility to mycobacterial diseases due to ikbkg deficiency |
GARD:12915 |
MONDO:equivalentTo |
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency |
|
|
MONDO:0860995 |
rh deficiency syndrome |
GARD:12916 |
MONDO:equivalentTo |
Rh deficiency syndrome |
|
|
MONDO:0860996 |
malignant migrating focal seizures of infancy |
GARD:12919 |
MONDO:equivalentTo |
Malignant migrating focal seizures of infancy |
|
|
MONDO:0860997 |
familial calcium pyrophosphate deposition |
GARD:1292 |
MONDO:equivalentTo |
Familial calcium pyrophosphate deposition |
|
|
MONDO:0860998 |
late-onset junctional epidermolysis bullosa |
GARD:12921 |
MONDO:equivalentTo |
Late-onset junctional epidermolysis bullosa |
|
|
MONDO:0860999 |
intermediate generalized junctional epidermolysis bullosa |
GARD:12922 |
MONDO:equivalentTo |
Intermediate generalized junctional epidermolysis bullosa |
|
|
MONDO:0861000 |
localized junctional epidermolysis bullosa |
GARD:12923 |
MONDO:equivalentTo |
Localized junctional epidermolysis bullosa |
|
|
MONDO:0861001 |
preeclampsia |
GARD:12924 |
MONDO:equivalentTo |
Preeclampsia |
|
|
MONDO:0861002 |
familial multiple lipomatosis |
GARD:12925 |
MONDO:equivalentTo |
Familial multiple lipomatosis |
|
|
MONDO:0861003 |
acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma |
GARD:12927 |
MONDO:equivalentTo |
Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma |
|
|
MONDO:0861004 |
astrocytoma |
GARD:12928 |
MONDO:equivalentTo |
Astrocytoma |
|
|
MONDO:0861005 |
adnp syndrome |
GARD:12931 |
MONDO:equivalentTo |
ADNP syndrome |
|
|
MONDO:0861006 |
x-linked hypophosphatemia |
GARD:12943 |
MONDO:equivalentTo |
X-linked hypophosphatemia |
|
|
MONDO:0861007 |
primary orthostatic hypotension |
GARD:12959 |
MONDO:equivalentTo |
Primary orthostatic hypotension |
|
|
MONDO:0861008 |
brachytelephalangic chondrodysplasia punctata |
GARD:1296 |
MONDO:equivalentTo |
Brachytelephalangic chondrodysplasia punctata |
|
|
MONDO:0861009 |
megdel syndrome |
GARD:12963 |
MONDO:equivalentTo |
MEGDEL syndrome |
|
|
MONDO:0861010 |
dilated cardiomyopathy with ataxia |
GARD:12964 |
MONDO:equivalentTo |
Dilated cardiomyopathy with ataxia |
|
|
MONDO:0861011 |
3-methylglutaconic aciduria |
GARD:12966 |
MONDO:equivalentTo |
3-methylglutaconic aciduria |
|
|
MONDO:0861012 |
mendelian susceptibility to mycobacterial diseases due to complete il12b deficiency |
GARD:12976 |
MONDO:equivalentTo |
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency |
|
|
MONDO:0861013 |
mendelian susceptibility to mycobacterial diseases |
GARD:12977 |
MONDO:equivalentTo |
Mendelian susceptibility to mycobacterial diseases |
|
|
MONDO:0861014 |
proximal myopathy with extrapyramidal signs |
GARD:12978 |
MONDO:equivalentTo |
Proximal myopathy with extrapyramidal signs |
|
|
MONDO:0861015 |
monoclonal mast cell activation syndrome |
GARD:12980 |
MONDO:equivalentTo |
Monoclonal mast cell activation syndrome |
|
|
MONDO:0861016 |
hereditary folate malabsorption |
GARD:12983 |
MONDO:equivalentTo |
Hereditary folate malabsorption |
|
|
MONDO:0861017 |
acyl-coa dehydrogenase 9 deficiency |
GARD:12986 |
MONDO:equivalentTo |
Acyl-CoA dehydrogenase 9 deficiency |
|
|
MONDO:0861018 |
hereditary sensory and autonomic neuropathy type 6 |
GARD:12987 |
MONDO:equivalentTo |
Hereditary sensory and autonomic neuropathy type 6 |
|
|
MONDO:0861019 |
aquagenic palmoplantar keratoderma |
GARD:12991 |
MONDO:equivalentTo |
Aquagenic palmoplantar keratoderma |
|
|
MONDO:0861020 |
aniridia-cerebellar ataxia-intellectual disability syndrome |
GARD:13 |
MONDO:equivalentTo |
Aniridia-cerebellar ataxia-intellectual disability syndrome |
|
|
MONDO:0861021 |
acromesomelic dysplasia, grebe type |
GARD:1300 |
MONDO:equivalentTo |
Acromesomelic dysplasia, Grebe type |
|
|
MONDO:0861022 |
lupus erythematosus tumidus |
GARD:13003 |
MONDO:equivalentTo |
Lupus erythematosus tumidus |
|
|
MONDO:0861023 |
hepatic veno-occlusive disease |
GARD:13004 |
MONDO:equivalentTo |
Hepatic veno-occlusive disease |
|
|
MONDO:0861024 |
hemoglobin m disease |
GARD:13007 |
MONDO:equivalentTo |
Hemoglobin M disease |
|
|
MONDO:0861025 |
ellis van creveld syndrome |
GARD:1301 |
MONDO:equivalentTo |
Ellis Van Creveld syndrome |
|
|
MONDO:0861026 |
anti-neutrophil cytoplasmic antibody-associated vasculitis |
GARD:13011 |
MONDO:equivalentTo |
Anti-neutrophil cytoplasmic antibody-associated vasculitis |
|
|
MONDO:0861027 |
obesity due to congenital leptin deficiency |
GARD:13015 |
MONDO:equivalentTo |
Obesity due to congenital leptin deficiency |
|
|
MONDO:0861028 |
immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome |
GARD:13016 |
MONDO:equivalentTo |
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome |
|
|
MONDO:0861029 |
microcystic lymphatic malformation |
GARD:13020 |
MONDO:equivalentTo |
Microcystic lymphatic malformation |
|
|
MONDO:0861030 |
woolly hair nevus |
GARD:13025 |
MONDO:equivalentTo |
Woolly hair nevus |
|
|
MONDO:0861031 |
chordoma |
GARD:1303 |
MONDO:equivalentTo |
Chordoma |
|
|
MONDO:0861032 |
deafness-lymphedema-leukemia syndrome |
GARD:13030 |
MONDO:equivalentTo |
Deafness-lymphedema-leukemia syndrome |
|
|
MONDO:0861033 |
cortical dysgenesis with pontocerebellar hypoplasia due to tubb3 mutation |
GARD:13032 |
MONDO:equivalentTo |
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation |
|
|
MONDO:0861034 |
neuroendocrine tumor of pancreas |
GARD:13034 |
MONDO:equivalentTo |
Neuroendocrine tumor of pancreas |
|
|
MONDO:0861035 |
necrobiosis lipoidica |
GARD:13040 |
MONDO:equivalentTo |
Necrobiosis lipoidica |
|
|
MONDO:0861036 |
intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome |
GARD:13043 |
MONDO:equivalentTo |
Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome |
|
|
MONDO:0861037 |
giant cell tumor of bone |
GARD:13046 |
MONDO:equivalentTo |
Giant cell tumor of bone |
|
|
MONDO:0861038 |
germ cell tumor of testis |
GARD:13047 |
MONDO:equivalentTo |
Germ cell tumor of testis |
|
|
MONDO:0861039 |
benign hereditary chorea |
GARD:1305 |
MONDO:equivalentTo |
Benign hereditary chorea |
|
|
MONDO:0861040 |
congenital analbuminemia |
GARD:13056 |
MONDO:equivalentTo |
Congenital analbuminemia |
|
|
MONDO:0861041 |
autosomal dominant multiple pterygium syndrome |
GARD:13058 |
MONDO:equivalentTo |
Autosomal dominant multiple pterygium syndrome |
|
|
MONDO:0861042 |
distal arthrogryposis type 5d |
GARD:13059 |
MONDO:equivalentTo |
Distal arthrogryposis type 5D |
|
|
MONDO:0861043 |
kcnq2-related epileptic encephalopathy |
GARD:13060 |
MONDO:equivalentTo |
KCNQ2-related epileptic encephalopathy |
|
|
MONDO:0861044 |
bockenheimer syndrome |
GARD:13063 |
MONDO:equivalentTo |
Bockenheimer syndrome |
|
|
MONDO:0861045 |
lewis-sumner syndrome |
GARD:13070 |
MONDO:equivalentTo |
Lewis-Sumner syndrome |
|
|
MONDO:0861046 |
primary hypomagnesemia with secondary hypocalcemia |
GARD:13072 |
MONDO:equivalentTo |
Primary hypomagnesemia with secondary hypocalcemia |
|
|
MONDO:0861047 |
nevus comedonicus syndrome |
GARD:13073 |
MONDO:equivalentTo |
Nevus comedonicus syndrome |
|
|
MONDO:0861048 |
diffuse intrinsic pontine glioma |
GARD:13075 |
MONDO:equivalentTo |
Diffuse intrinsic pontine glioma |
|
|
MONDO:0861049 |
corticosteroid-binding globulin deficiency |
GARD:13101 |
MONDO:equivalentTo |
Corticosteroid-binding globulin deficiency |
|
|
MONDO:0861050 |
dent disease |
GARD:13105 |
MONDO:equivalentTo |
Dent disease |
|
|
MONDO:0861051 |
mirage syndrome |
GARD:13108 |
MONDO:equivalentTo |
MIRAGE syndrome |
|
|
MONDO:0861052 |
progressive encephalomyelitis with rigidity and myoclonus |
GARD:13110 |
MONDO:equivalentTo |
Progressive encephalomyelitis with rigidity and myoclonus |
|
|
MONDO:0861053 |
ataxia-oculomotor apraxia type 4 |
GARD:13111 |
MONDO:equivalentTo |
Ataxia-oculomotor apraxia type 4 |
|
|
MONDO:0861054 |
acute infantile liver failure-multisystemic involvement syndrome |
GARD:13114 |
MONDO:equivalentTo |
Acute infantile liver failure-multisystemic involvement syndrome |
|
|
MONDO:0861055 |
chronic thromboembolic pulmonary hypertension |
GARD:13124 |
MONDO:equivalentTo |
Chronic thromboembolic pulmonary hypertension |
|
|
MONDO:0861056 |
cidec-related familial partial lipodystrophy |
GARD:13125 |
MONDO:equivalentTo |
CIDEC-related familial partial lipodystrophy |
|
|
MONDO:0861057 |
lipe-related familial partial lipodystrophy |
GARD:13126 |
MONDO:equivalentTo |
LIPE-related familial partial lipodystrophy |
|
|
MONDO:0861058 |
infantile choroidocerebral calcification syndrome |
GARD:1313 |
MONDO:equivalentTo |
Infantile choroidocerebral calcification syndrome |
|
|
MONDO:0861059 |
methylmalonic acidemia with homocystinuria, type cblx |
GARD:13137 |
MONDO:equivalentTo |
Methylmalonic acidemia with homocystinuria, type cblX |
|
|
MONDO:0861060 |
acute flaccid myelitis |
GARD:13142 |
MONDO:equivalentTo |
Acute flaccid myelitis |
|
|
MONDO:0861061 |
tibial muscular dystrophy |
GARD:13154 |
MONDO:equivalentTo |
Tibial muscular dystrophy |
|
|
MONDO:0861062 |
early-onset lamellar cataract |
GARD:13155 |
MONDO:equivalentTo |
Early-onset lamellar cataract |
|
|
MONDO:0861063 |
oligodendroglial tumor |
GARD:13156 |
MONDO:equivalentTo |
Oligodendroglial tumor |
|
|
MONDO:0861064 |
hereditary papillary renal cell carcinoma |
GARD:13157 |
MONDO:equivalentTo |
Hereditary papillary renal cell carcinoma |
|
|
MONDO:0861065 |
staphylococcal scalded skin syndrome |
GARD:13158 |
MONDO:equivalentTo |
Staphylococcal scalded skin syndrome |
|
|
MONDO:0861066 |
rhizomelic chondrodysplasia punctata |
GARD:13160 |
MONDO:equivalentTo |
Rhizomelic chondrodysplasia punctata |
|
|
MONDO:0861067 |
methylmalonic acidemia without homocystinuria |
GARD:13163 |
MONDO:equivalentTo |
Methylmalonic acidemia without homocystinuria |
|
|
MONDO:0861068 |
familial isolated trichomegaly |
GARD:13167 |
MONDO:equivalentTo |
Familial isolated trichomegaly |
|
|
MONDO:0861069 |
corticobasal syndrome |
GARD:13168 |
MONDO:equivalentTo |
Corticobasal syndrome |
|
|
MONDO:0861070 |
chst3-related skeletal dysplasia |
GARD:13169 |
MONDO:equivalentTo |
CHST3-related skeletal dysplasia |
|
|
MONDO:0861071 |
autosomal recessive brachyolmia |
GARD:13171 |
MONDO:equivalentTo |
Autosomal recessive brachyolmia |
|
|
MONDO:0861072 |
polyneuropathy associated with igm monoclonal gammapathy with anti-mag |
GARD:13173 |
MONDO:equivalentTo |
Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG |
|
|
MONDO:0861073 |
renal medullary carcinoma |
GARD:13175 |
MONDO:equivalentTo |
Renal medullary carcinoma |
|
|
MONDO:0861074 |
s-adenosylhomocysteine hydrolase deficiency |
GARD:13177 |
MONDO:equivalentTo |
S-adenosylhomocysteine hydrolase deficiency |
|
|
MONDO:0861075 |
xanthoma disseminatum |
GARD:13186 |
MONDO:equivalentTo |
Xanthoma disseminatum |
|
|
MONDO:0861076 |
chromomycosis |
GARD:1319 |
MONDO:equivalentTo |
Chromomycosis |
|
|
MONDO:0861077 |
infantile-onset periodic fever-panniculitis-dermatosis syndrome |
GARD:13198 |
MONDO:equivalentTo |
Infantile-onset periodic fever-panniculitis-dermatosis syndrome |
|
|
MONDO:0861078 |
cystic leukoencephalopathy without megalencephaly |
GARD:13199 |
MONDO:equivalentTo |
Cystic leukoencephalopathy without megalencephaly |
|
|
MONDO:0861079 |
primary cutaneous amyloidosis |
GARD:132 |
MONDO:equivalentTo |
Primary cutaneous amyloidosis |
|
|
MONDO:0861080 |
ring chromosome 1 syndrome |
GARD:1320 |
MONDO:equivalentTo |
Ring chromosome 1 syndrome |
|
|
MONDO:0861081 |
mitochondrial dna depletion syndrome, encephalomyopathic form with renal tubulopathy |
GARD:13200 |
MONDO:equivalentTo |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy |
|
|
MONDO:0861082 |
hyperammonemic encephalopathy due to carbonic anhydrase va deficiency |
GARD:13201 |
MONDO:equivalentTo |
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency |
|
|
MONDO:0861083 |
neurodegeneration due to 3-hydroxyisobutyryl-coa hydrolase deficiency |
GARD:13202 |
MONDO:equivalentTo |
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency |
|
|
MONDO:0861084 |
2q32q33 microdeletion syndrome |
GARD:13206 |
MONDO:equivalentTo |
2q32q33 microdeletion syndrome |
|
|
MONDO:0861085 |
pituitary stalk interruption syndrome |
GARD:13209 |
MONDO:equivalentTo |
Pituitary stalk interruption syndrome |
|
|
MONDO:0861086 |
renal cell carcinoma |
GARD:13215 |
MONDO:equivalentTo |
Renal cell carcinoma |
|
|
MONDO:0861087 |
hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome |
GARD:13218 |
MONDO:equivalentTo |
Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome |
|
|
MONDO:0861088 |
bap1-related tumor predisposition syndrome |
GARD:13219 |
MONDO:equivalentTo |
BAP1-related tumor predisposition syndrome |
|
|
MONDO:0861089 |
ring chromosome 10 syndrome |
GARD:1322 |
MONDO:equivalentTo |
Ring chromosome 10 syndrome |
|
|
MONDO:0861090 |
severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome |
GARD:13221 |
MONDO:equivalentTo |
Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome |
|
|
MONDO:0861091 |
bicd2-related autosomal dominant childhood-onset proximal spinal muscular atrophy |
GARD:13222 |
MONDO:equivalentTo |
BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy |
|
|
MONDO:0861092 |
distal monosomy 10p |
GARD:1323 |
MONDO:equivalentTo |
Distal monosomy 10p |
|
|
MONDO:0861093 |
familial acute necrotizing encephalopathy |
GARD:13232 |
MONDO:equivalentTo |
Familial acute necrotizing encephalopathy |
|
|
MONDO:0861094 |
marginal zone lymphoma |
GARD:13237 |
MONDO:equivalentTo |
Marginal zone lymphoma |
|
|
MONDO:0861095 |
x-linked intellectual disability, cabezas type |
GARD:13244 |
MONDO:equivalentTo |
X-linked intellectual disability, Cabezas type |
|
|
MONDO:0861096 |
ring chromosome 12 syndrome |
GARD:1325 |
MONDO:equivalentTo |
Ring chromosome 12 syndrome |
|
|
MONDO:0861097 |
igg4-related pachymeningitis |
GARD:13256 |
MONDO:equivalentTo |
IgG4-related pachymeningitis |
|
|
MONDO:0861098 |
bainbridge-ropers syndrome |
GARD:13259 |
MONDO:equivalentTo |
Bainbridge-Ropers syndrome |
|
|
MONDO:0861099 |
infantile cerebellar-retinal degeneration |
GARD:13264 |
MONDO:equivalentTo |
Infantile cerebellar-retinal degeneration |
|
|
MONDO:0861100 |
mosaic trisomy 14 |
GARD:1327 |
MONDO:equivalentTo |
Mosaic trisomy 14 |
|
|
MONDO:0861101 |
phosphoserine aminotransferase deficiency, infantile/juvenile form |
GARD:13273 |
MONDO:equivalentTo |
Phosphoserine aminotransferase deficiency, infantile/juvenile form |
|
|
MONDO:0861102 |
ring chromosome 15 syndrome |
GARD:1328 |
MONDO:equivalentTo |
Ring chromosome 15 syndrome |
|
|
MONDO:0861103 |
bleeding diathesis due to glycoprotein vi deficiency |
GARD:13293 |
MONDO:equivalentTo |
Bleeding diathesis due to glycoprotein VI deficiency |
|
|
MONDO:0861104 |
familial focal epilepsy with variable foci |
GARD:13295 |
MONDO:equivalentTo |
Familial focal epilepsy with variable foci |
|
|
MONDO:0861105 |
17q12 microduplication syndrome |
GARD:13296 |
MONDO:equivalentTo |
17q12 microduplication syndrome |
|
|
MONDO:0861106 |
17q12 microdeletion syndrome |
GARD:13297 |
MONDO:equivalentTo |
17q12 microdeletion syndrome |
|
|
MONDO:0861107 |
mitochondrial dna depletion syndrome, encephalomyopathic form with variable craniofacial anomalies |
GARD:13298 |
MONDO:equivalentTo |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies |
|
|
MONDO:0861108 |
magel2-related prader-willi-like syndrome |
GARD:13316 |
MONDO:equivalentTo |
MAGEL2-related Prader-Willi-like syndrome |
|
|
MONDO:0861109 |
fatty acyl-coa reductase 1 deficiency |
GARD:13319 |
MONDO:equivalentTo |
Fatty acyl-CoA reductase 1 deficiency |
|
|
MONDO:0861110 |
rhizomelic chondrodysplasia punctata type 5 |
GARD:13320 |
MONDO:equivalentTo |
Rhizomelic chondrodysplasia punctata type 5 |
|
|
MONDO:0861111 |
ring chromosome 19 syndrome |
GARD:1333 |
MONDO:equivalentTo |
Ring chromosome 19 syndrome |
|
|
MONDO:0861112 |
familial reactive perforating collagenosis |
GARD:13331 |
MONDO:equivalentTo |
Familial reactive perforating collagenosis |
|
|
MONDO:0861113 |
idiopathic interstitial pneumonia |
GARD:13337 |
MONDO:equivalentTo |
Idiopathic interstitial pneumonia |
|
|
MONDO:0861114 |
benta disease |
GARD:13339 |
MONDO:equivalentTo |
BENTA disease |
|
|
MONDO:0861115 |
ring chromosome 20 syndrome |
GARD:1334 |
MONDO:equivalentTo |
Ring chromosome 20 syndrome |
|
|
MONDO:0861116 |
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome |
GARD:13349 |
MONDO:equivalentTo |
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome |
|
|
MONDO:0861117 |
morning glory disc anomaly |
GARD:13354 |
MONDO:equivalentTo |
Morning glory disc anomaly |
|
|
MONDO:0861118 |
ring chromosome 22 syndrome |
GARD:1336 |
MONDO:equivalentTo |
Ring chromosome 22 syndrome |
|
|
MONDO:0861119 |
magic syndrome |
GARD:13371 |
MONDO:equivalentTo |
MAGIC syndrome |
|
|
MONDO:0861120 |
congenital generalized lipodystrophy |
GARD:13388 |
MONDO:equivalentTo |
Congenital generalized lipodystrophy |
|
|
MONDO:0861121 |
ring chromosome 4 syndrome |
GARD:1339 |
MONDO:equivalentTo |
Ring chromosome 4 syndrome |
|
|
MONDO:0861122 |
12q14 microdeletion syndrome |
GARD:13390 |
MONDO:equivalentTo |
12q14 microdeletion syndrome |
|
|
MONDO:0861123 |
2p15p16.1 microdeletion syndrome |
GARD:13391 |
MONDO:equivalentTo |
2p15p16.1 microdeletion syndrome |
|
|
MONDO:0861124 |
spondyloepimetaphyseal dysplasia congenita, strudwick type |
GARD:134 |
MONDO:equivalentTo |
Spondyloepimetaphyseal dysplasia congenita, Strudwick type |
|
|
MONDO:0861125 |
ahdc1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome |
GARD:13409 |
MONDO:equivalentTo |
AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome |
|
|
MONDO:0861126 |
neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation |
GARD:13418 |
MONDO:equivalentTo |
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation |
|
|
MONDO:0861127 |
recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome |
GARD:13423 |
MONDO:equivalentTo |
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome |
|
|
MONDO:0861128 |
spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome |
GARD:13425 |
MONDO:equivalentTo |
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome |
|
|
MONDO:0861129 |
temple syndrome |
GARD:13431 |
MONDO:equivalentTo |
Temple syndrome |
|
|
MONDO:0861130 |
plasmacytoma |
GARD:13446 |
MONDO:equivalentTo |
Plasmacytoma |
|
|
MONDO:0861131 |
pens syndrome |
GARD:13447 |
MONDO:equivalentTo |
PENS syndrome |
|
|
MONDO:0861132 |
ring chromosome 7 syndrome |
GARD:1345 |
MONDO:equivalentTo |
Ring chromosome 7 syndrome |
|
|
MONDO:0861133 |
kaposiform lymphangiomatosis |
GARD:13451 |
MONDO:equivalentTo |
Kaposiform lymphangiomatosis |
|
|
MONDO:0861134 |
ren-related autosomal dominant tubulointerstitial kidney disease |
GARD:13461 |
MONDO:equivalentTo |
REN-related autosomal dominant tubulointerstitial kidney disease |
|
|
MONDO:0861135 |
ring chromosome 8 syndrome |
GARD:1347 |
MONDO:equivalentTo |
Ring chromosome 8 syndrome |
|
|
MONDO:0861136 |
fth1-related iron overload |
GARD:13472 |
MONDO:equivalentTo |
FTH1-related iron overload |
|
|
MONDO:0861137 |
intellectual disability-epilepsy-extrapyramidal syndrome |
GARD:13474 |
MONDO:equivalentTo |
Intellectual disability-epilepsy-extrapyramidal syndrome |
|
|
MONDO:0861138 |
ring chromosome 9 syndrome |
GARD:1348 |
MONDO:equivalentTo |
Ring chromosome 9 syndrome |
|
|
MONDO:0861139 |
mepan syndrome |
GARD:13488 |
MONDO:equivalentTo |
MEPAN syndrome |
|
|
MONDO:0861140 |
brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome |
GARD:13489 |
MONDO:equivalentTo |
Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome |
|
|
MONDO:0861141 |
dync1h1-related autosomal dominant childhood-onset proximal spinal muscular atrophy |
GARD:13519 |
MONDO:equivalentTo |
DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy |
|
|
MONDO:0861142 |
dyrk1a-related intellectual disability syndrome |
GARD:13527 |
MONDO:equivalentTo |
DYRK1A-related intellectual disability syndrome |
|
|
MONDO:0861143 |
cinca syndrome |
GARD:1356 |
MONDO:equivalentTo |
CINCA syndrome |
|
|
MONDO:0861144 |
combined immunodeficiency due to lrba deficiency |
GARD:13565 |
MONDO:equivalentTo |
Combined immunodeficiency due to LRBA deficiency |
|
|
MONDO:0861145 |
hereditary sensory and autonomic neuropathy due to tecpr2 mutation |
GARD:13568 |
MONDO:equivalentTo |
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation |
|
|
MONDO:0861146 |
childhood encephalopathy due to thiamine pyrophosphokinase deficiency |
GARD:13571 |
MONDO:equivalentTo |
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency |
|
|
MONDO:0861147 |
intellectual disability-myopathy-short stature-endocrine defect syndrome |
GARD:1358 |
MONDO:equivalentTo |
Intellectual disability-myopathy-short stature-endocrine defect syndrome |
|
|
MONDO:0861148 |
combined immunodeficiency with granulomatosis |
GARD:13587 |
MONDO:equivalentTo |
Combined immunodeficiency with granulomatosis |
|
|
MONDO:0861149 |
pontiac fever |
GARD:13588 |
MONDO:equivalentTo |
Pontiac fever |
|
|
MONDO:0861150 |
chylous ascites |
GARD:1359 |
MONDO:equivalentTo |
Chylous ascites |
|
|
MONDO:0861151 |
postural orthostatic tachycardia syndrome due to net deficiency |
GARD:13591 |
MONDO:equivalentTo |
Postural orthostatic tachycardia syndrome due to NET deficiency |
|
|
MONDO:0861152 |
severe congenital neutropenia |
GARD:13592 |
MONDO:equivalentTo |
Severe congenital neutropenia |
|
|
MONDO:0861153 |
rosette-forming glioneuronal tumor |
GARD:13593 |
MONDO:equivalentTo |
Rosette-forming glioneuronal tumor |
|
|
MONDO:0861154 |
brain dopamine-serotonin vesicular transport disease |
GARD:13594 |
MONDO:equivalentTo |
Brain dopamine-serotonin vesicular transport disease |
|
|
MONDO:0861155 |
subcorneal pustular dermatosis |
GARD:13606 |
MONDO:equivalentTo |
Subcorneal pustular dermatosis |
|
|
MONDO:0861156 |
pneumonia caused by pseudomonas aeruginosa infection |
GARD:13613 |
MONDO:equivalentTo |
Pneumonia caused by Pseudomonas aeruginosa infection |
|
|
MONDO:0861157 |
cad-cdg |
GARD:13621 |
MONDO:equivalentTo |
CAD-CDG |
|
|
MONDO:0861158 |
drug reaction with eosinophilia and systemic symptoms |
GARD:13629 |
MONDO:equivalentTo |
Drug reaction with eosinophilia and systemic symptoms |
|
|
MONDO:0861159 |
macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome |
GARD:13636 |
MONDO:equivalentTo |
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome |
|
|
MONDO:0861160 |
x-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability |
GARD:13638 |
MONDO:equivalentTo |
X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability |
|
|
MONDO:0861161 |
classic galactosemia |
GARD:13639 |
MONDO:equivalentTo |
Classic galactosemia |
|
|
MONDO:0861162 |
familial cerebral cavernous malformation |
GARD:13641 |
MONDO:equivalentTo |
Familial cerebral cavernous malformation |
|
|
MONDO:0861163 |
mitochondrial dna depletion syndrome |
GARD:13643 |
MONDO:equivalentTo |
Mitochondrial DNA depletion syndrome |
|
|
MONDO:0861164 |
mitochondrial dna depletion syndrome, hepatocerebral form due to dguok deficiency |
GARD:13644 |
MONDO:equivalentTo |
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency |
|
|
MONDO:0861165 |
orofaciodigital syndrome type 14 |
GARD:13655 |
MONDO:equivalentTo |
Orofaciodigital syndrome type 14 |
|
|
MONDO:0861166 |
childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder |
GARD:13658 |
MONDO:equivalentTo |
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder |
|
|
MONDO:0861167 |
classic multiminicore myopathy |
GARD:13661 |
MONDO:equivalentTo |
Classic multiminicore myopathy |
|
|
MONDO:0861168 |
familial sick sinus syndrome |
GARD:13663 |
MONDO:equivalentTo |
Familial sick sinus syndrome |
|
|
MONDO:0861169 |
tibial aplasia-ectrodactyly syndrome |
GARD:1369 |
MONDO:equivalentTo |
Tibial aplasia-ectrodactyly syndrome |
|
|
MONDO:0861170 |
primary cutaneous follicle center lymphoma |
GARD:13701 |
MONDO:equivalentTo |
Primary cutaneous follicle center lymphoma |
|
|
MONDO:0861171 |
warsaw breakage syndrome |
GARD:13708 |
MONDO:equivalentTo |
Warsaw breakage syndrome |
|
|
MONDO:0861172 |
combined immunodeficiency due to partial rag1 deficiency |
GARD:13712 |
MONDO:equivalentTo |
Combined immunodeficiency due to partial RAG1 deficiency |
|
|
MONDO:0861173 |
t-cell prolymphocytic leukemia |
GARD:13731 |
MONDO:equivalentTo |
T-cell prolymphocytic leukemia |
|
|
MONDO:0861174 |
white-sutton syndrome |
GARD:13774 |
MONDO:equivalentTo |
White-Sutton syndrome |
|
|
MONDO:0861175 |
aica-ribosiduria |
GARD:13781 |
MONDO:equivalentTo |
AICA-ribosiduria |
|
|
MONDO:0861176 |
luscan-lumish syndrome |
GARD:13789 |
MONDO:equivalentTo |
Luscan-Lumish syndrome |
|
|
MONDO:0861177 |
chd3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome |
GARD:13806 |
MONDO:equivalentTo |
CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome |
|
|
MONDO:0861178 |
fundus albipunctatus |
GARD:13809 |
MONDO:equivalentTo |
Fundus albipunctatus |
|
|
MONDO:0861179 |
malan overgrowth syndrome |
GARD:13811 |
MONDO:equivalentTo |
Malan overgrowth syndrome |
|
|
MONDO:0861180 |
familial steroid-resistant nephrotic syndrome with adrenal insufficiency |
GARD:13818 |
MONDO:equivalentTo |
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency |
|
|
MONDO:0861181 |
proteasome-associated autoinflammatory syndrome |
GARD:13824 |
MONDO:equivalentTo |
Proteasome-associated autoinflammatory syndrome |
|
|
MONDO:0861182 |
familial atrial myxoma |
GARD:139 |
MONDO:equivalentTo |
Familial atrial myxoma |
|
|
MONDO:0861183 |
cleft palate-lateral synechia syndrome |
GARD:1391 |
MONDO:equivalentTo |
Cleft palate-lateral synechia syndrome |
|
|
MONDO:0861184 |
cleft palate-short stature-vertebral anomalies syndrome |
GARD:1392 |
MONDO:equivalentTo |
Cleft palate-short stature-vertebral anomalies syndrome |
|
|
MONDO:0861185 |
cleft palate-stapes fixation-oligodontia syndrome |
GARD:1393 |
MONDO:equivalentTo |
Cleft palate-stapes fixation-oligodontia syndrome |
|
|
MONDO:0861186 |
x-linked cleft palate and ankyloglossia |
GARD:1394 |
MONDO:equivalentTo |
X-linked cleft palate and ankyloglossia |
|
|
MONDO:0861187 |
atresia of small intestine |
GARD:140 |
MONDO:equivalentTo |
Atresia of small intestine |
|
|
MONDO:0861188 |
thanatophoric dysplasia type 2 |
GARD:1402 |
MONDO:equivalentTo |
Thanatophoric dysplasia type 2 |
|
|
MONDO:0861189 |
joubert syndrome with hepatic defect |
GARD:1410 |
MONDO:equivalentTo |
Joubert syndrome with hepatic defect |
|
|
MONDO:0861190 |
cocaine embryofetopathy |
GARD:1413 |
MONDO:equivalentTo |
Cocaine embryofetopathy |
|
|
MONDO:0861191 |
cockayne syndrome type 1 |
GARD:1415 |
MONDO:equivalentTo |
Cockayne syndrome type 1 |
|
|
MONDO:0861192 |
cockayne syndrome type 3 |
GARD:1417 |
MONDO:equivalentTo |
Cockayne syndrome type 3 |
|
|
MONDO:0861193 |
codas syndrome |
GARD:1418 |
MONDO:equivalentTo |
CODAS syndrome |
|
|
MONDO:0861194 |
cockayne syndrome type 2 |
GARD:1420 |
MONDO:equivalentTo |
Cockayne syndrome type 2 |
|
|
MONDO:0861195 |
cogan syndrome |
GARD:1421 |
MONDO:equivalentTo |
Cogan syndrome |
|
|
MONDO:0861196 |
cole-carpenter syndrome |
GARD:1425 |
MONDO:equivalentTo |
Cole-Carpenter syndrome |
|
|
MONDO:0861197 |
dislocation of the hip-dysmorphism syndrome |
GARD:1428 |
MONDO:equivalentTo |
Dislocation of the hip-dysmorphism syndrome |
|
|
MONDO:0861198 |
hypertrichosis cubiti |
GARD:143 |
MONDO:equivalentTo |
Hypertrichosis cubiti |
|
|
MONDO:0861199 |
coloboma of eye lens |
GARD:1433 |
MONDO:equivalentTo |
Coloboma of eye lens |
|
|
MONDO:0861200 |
coloboma of iris |
GARD:1434 |
MONDO:equivalentTo |
Coloboma of iris |
|
|
MONDO:0861201 |
coloboma of macula |
GARD:1436 |
MONDO:equivalentTo |
Coloboma of macula |
|
|
MONDO:0861202 |
coloboma of macula-brachydactyly type b syndrome |
GARD:1437 |
MONDO:equivalentTo |
Coloboma of macula-brachydactyly type B syndrome |
|
|
MONDO:0861203 |
coloboma of optic disc |
GARD:1438 |
MONDO:equivalentTo |
Coloboma of optic disc |
|
|
MONDO:0861204 |
prominent glabella-microcephaly-hypogenitalism syndrome |
GARD:144 |
MONDO:equivalentTo |
Prominent glabella-microcephaly-hypogenitalism syndrome |
|
|
MONDO:0861205 |
uveal coloboma-cleft lip and palate-intellectual disability |
GARD:1440 |
MONDO:equivalentTo |
Uveal coloboma-cleft lip and palate-intellectual disability |
|
|
MONDO:0861206 |
anophthalmia/microphthalmia-esophageal atresia syndrome |
GARD:1443 |
MONDO:equivalentTo |
Anophthalmia/microphthalmia-esophageal atresia syndrome |
|
|
MONDO:0861207 |
colonic atresia |
GARD:1446 |
MONDO:equivalentTo |
Colonic atresia |
|
|
MONDO:0861208 |
complete atrioventricular septal defect |
GARD:1454 |
MONDO:equivalentTo |
Complete atrioventricular septal defect |
|
|
MONDO:0861209 |
conductive deafness-malformed external ear syndrome |
GARD:1460 |
MONDO:equivalentTo |
Conductive deafness-malformed external ear syndrome |
|
|
MONDO:0861210 |
jalili syndrome |
GARD:1463 |
MONDO:equivalentTo |
Jalili syndrome |
|
|
MONDO:0861211 |
congenital lipoid adrenal hyperplasia due to star deficency |
GARD:1465 |
MONDO:equivalentTo |
Congenital lipoid adrenal hyperplasia due to STAR deficency |
|
|
MONDO:0861212 |
congenital adrenal hyperplasia |
GARD:1467 |
MONDO:equivalentTo |
Congenital adrenal hyperplasia |
|
|
MONDO:0861213 |
congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency |
GARD:1469 |
MONDO:equivalentTo |
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency |
|
|
MONDO:0861214 |
autosomal dominant congenital benign spinal muscular atrophy |
GARD:1474 |
MONDO:equivalentTo |
Autosomal dominant congenital benign spinal muscular atrophy |
|
|
MONDO:0861215 |
congenital respiratory-biliary fistula |
GARD:1475 |
MONDO:equivalentTo |
Congenital respiratory-biliary fistula |
|
|
MONDO:0861216 |
fetal cytomegalovirus syndrome |
GARD:1480 |
MONDO:equivalentTo |
Fetal cytomegalovirus syndrome |
|
|
MONDO:0861217 |
congenital diaphragmatic hernia |
GARD:1481 |
MONDO:equivalentTo |
Congenital diaphragmatic hernia |
|
|
MONDO:0861218 |
congenital hypothyroidism |
GARD:1487 |
MONDO:equivalentTo |
Congenital hypothyroidism |
|
|
MONDO:0861219 |
congenital ichthyosis-microcephalus-tetraplegia syndrome |
GARD:1489 |
MONDO:equivalentTo |
Congenital ichthyosis-microcephalus-tetraplegia syndrome |
|
|
MONDO:0861220 |
congenital mesoblastic nephroma |
GARD:1493 |
MONDO:equivalentTo |
Congenital mesoblastic nephroma |
|
|
MONDO:0861221 |
congenital mitral malformation |
GARD:1495 |
MONDO:equivalentTo |
Congenital mitral malformation |
|
|
MONDO:0861222 |
congenital mitral stenosis |
GARD:1496 |
MONDO:equivalentTo |
Congenital mitral stenosis |
|
|
MONDO:0861223 |
congenital nephrotic syndrome, finnish type |
GARD:1500 |
MONDO:equivalentTo |
Congenital nephrotic syndrome, Finnish type |
|
|
MONDO:0861224 |
lig4 syndrome |
GARD:15000 |
MONDO:equivalentTo |
LIG4 syndrome |
|
|
MONDO:0861225 |
vexas syndrome |
GARD:15001 |
MONDO:equivalentTo |
VEXAS syndrome |
|
|
MONDO:0861226 |
complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome |
GARD:15003 |
MONDO:equivalentTo |
Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome |
|
|
MONDO:0861227 |
fadd-related immunodeficiency |
GARD:15004 |
MONDO:equivalentTo |
FADD-related immunodeficiency |
|
|
MONDO:0861228 |
hereditary breast and ovarian cancer syndrome |
GARD:15010 |
MONDO:equivalentTo |
Hereditary breast and ovarian cancer syndrome |
|
|
MONDO:0861229 |
autosomal recessive malignant osteopetrosis |
GARD:15012 |
MONDO:equivalentTo |
Autosomal recessive malignant osteopetrosis |
|
|
MONDO:0861230 |
craniometaphyseal dysplasia |
GARD:15013 |
MONDO:equivalentTo |
Craniometaphyseal dysplasia |
|
|
MONDO:0861231 |
solitary fibrous tumor/hemangiopericytoma |
GARD:15014 |
MONDO:equivalentTo |
Solitary fibrous tumor/hemangiopericytoma |
|
|
MONDO:0861232 |
achromatopsia |
GARD:15015 |
MONDO:equivalentTo |
Achromatopsia |
|
|
MONDO:0861233 |
striate palmoplantar keratoderma |
GARD:15016 |
MONDO:equivalentTo |
Striate palmoplantar keratoderma |
|
|
MONDO:0861234 |
trichorhinophalangeal syndrome type 1 and 3 |
GARD:15017 |
MONDO:equivalentTo |
Trichorhinophalangeal syndrome type 1 and 3 |
|
|
MONDO:0861235 |
interatrial communication |
GARD:15018 |
MONDO:equivalentTo |
Interatrial communication |
|
|
MONDO:0861236 |
fibronectin glomerulopathy |
GARD:15019 |
MONDO:equivalentTo |
Fibronectin glomerulopathy |
|
|
MONDO:0861237 |
short bowel syndrome |
GARD:1502 |
MONDO:equivalentTo |
Short bowel syndrome |
|
|
MONDO:0861238 |
non-acquired panhypopituitarism |
GARD:15020 |
MONDO:equivalentTo |
Non-acquired panhypopituitarism |
|
|
MONDO:0861239 |
angioma serpiginosum |
GARD:15021 |
MONDO:equivalentTo |
Angioma serpiginosum |
|
|
MONDO:0861240 |
postsynaptic congenital myasthenic syndromes |
GARD:15022 |
MONDO:equivalentTo |
Postsynaptic congenital myasthenic syndromes |
|
|
MONDO:0861241 |
presynaptic congenital myasthenic syndromes |
GARD:15023 |
MONDO:equivalentTo |
Presynaptic congenital myasthenic syndromes |
|
|
MONDO:0861242 |
multiple epiphyseal dysplasia due to collagen 9 anomaly |
GARD:15024 |
MONDO:equivalentTo |
Multiple epiphyseal dysplasia due to collagen 9 anomaly |
|
|
MONDO:0861243 |
immunodeficiency due to a classical component pathway complement deficiency |
GARD:15025 |
MONDO:equivalentTo |
Immunodeficiency due to a classical component pathway complement deficiency |
|
|
MONDO:0861244 |
hermansky-pudlak syndrome due to ap-3 deficiency |
GARD:15026 |
MONDO:equivalentTo |
Hermansky-Pudlak syndrome due to AP-3 deficiency |
|
|
MONDO:0861245 |
pulmonary capillary hemangiomatosis |
GARD:15027 |
MONDO:equivalentTo |
Pulmonary capillary hemangiomatosis |
|
|
MONDO:0861246 |
non-specific early-onset epileptic encephalopathy |
GARD:15028 |
MONDO:equivalentTo |
Non-specific early-onset epileptic encephalopathy |
|
|
MONDO:0861247 |
femoral agenesis/hypoplasia |
GARD:1503 |
MONDO:equivalentTo |
Femoral agenesis/hypoplasia |
|
|
MONDO:0861248 |
hereditary continuous muscle fiber activity |
GARD:1512 |
MONDO:equivalentTo |
Hereditary continuous muscle fiber activity |
|
|
MONDO:0861249 |
continuous spikes and waves during sleep |
GARD:1513 |
MONDO:equivalentTo |
Continuous spikes and waves during sleep |
|
|
MONDO:0861250 |
contractures-ectodermal dysplasia-cleft lip/palate syndrome |
GARD:1515 |
MONDO:equivalentTo |
Contractures-ectodermal dysplasia-cleft lip/palate syndrome |
|
|
MONDO:0861251 |
restrictive dermopathy |
GARD:1516 |
MONDO:equivalentTo |
Restrictive dermopathy |
|
|
MONDO:0861252 |
benign familial neonatal-infantile seizures |
GARD:1518 |
MONDO:equivalentTo |
Benign familial neonatal-infantile seizures |
|
|
MONDO:0861253 |
benign familial neonatal epilepsy |
GARD:1519 |
MONDO:equivalentTo |
Benign familial neonatal epilepsy |
|
|
MONDO:0861254 |
menkes disease |
GARD:1521 |
MONDO:equivalentTo |
Menkes disease |
|
|
MONDO:0861255 |
familial benign copper deficiency |
GARD:1522 |
MONDO:equivalentTo |
Familial benign copper deficiency |
|
|
MONDO:0861256 |
spinocerebellar degeneration-corneal dystrophy syndrome |
GARD:1525 |
MONDO:equivalentTo |
Spinocerebellar degeneration-corneal dystrophy syndrome |
|
|
MONDO:0861257 |
progressive familial intrahepatic cholestasis |
GARD:15255 |
MONDO:equivalentTo |
Progressive familial intrahepatic cholestasis |
|
|
MONDO:0861258 |
corneal dystrophy-perceptive deafness syndrome |
GARD:1529 |
MONDO:equivalentTo |
Corneal dystrophy-perceptive deafness syndrome |
|
|
MONDO:0861259 |
corneodermatoosseous syndrome |
GARD:1531 |
MONDO:equivalentTo |
Corneodermatoosseous syndrome |
|
|
MONDO:0861260 |
coronary arterial fistula |
GARD:1533 |
MONDO:equivalentTo |
Coronary arterial fistula |
|
|
MONDO:0861261 |
coronary artery congenital malformation |
GARD:1534 |
MONDO:equivalentTo |
Coronary artery congenital malformation |
|
|
MONDO:0861262 |
corpus callosum agenesis-neuronopathy syndrome |
GARD:1537 |
MONDO:equivalentTo |
Corpus callosum agenesis-neuronopathy syndrome |
|
|
MONDO:0861263 |
congenitally corrected transposition of the great arteries |
GARD:1544 |
MONDO:equivalentTo |
Congenitally corrected transposition of the great arteries |
|
|
MONDO:0861264 |
cortical blindness-intellectual disability-polydactyly syndrome |
GARD:1548 |
MONDO:equivalentTo |
Cortical blindness-intellectual disability-polydactyly syndrome |
|
|
MONDO:0861265 |
laurin-sandrow syndrome |
GARD:155 |
MONDO:equivalentTo |
Laurin-Sandrow syndrome |
|
|
MONDO:0861266 |
costello syndrome |
GARD:1550 |
MONDO:equivalentTo |
Costello syndrome |
|
|
MONDO:0861267 |
congenitally short costocoracoid ligament |
GARD:1551 |
MONDO:equivalentTo |
Congenitally short costocoracoid ligament |
|
|
MONDO:0861268 |
pelviscapular dysplasia |
GARD:1555 |
MONDO:equivalentTo |
Pelviscapular dysplasia |
|
|
MONDO:0861269 |
coxoauricular syndrome |
GARD:1558 |
MONDO:equivalentTo |
Coxoauricular syndrome |
|
|
MONDO:0861270 |
muscle-eye-brain disease |
GARD:156 |
MONDO:equivalentTo |
Muscle-eye-brain disease |
|
|
MONDO:0861271 |
crandall syndrome |
GARD:1561 |
MONDO:equivalentTo |
Crandall syndrome |
|
|
MONDO:0861272 |
cranio-osteoarthropathy |
GARD:1564 |
MONDO:equivalentTo |
Cranio-osteoarthropathy |
|
|
MONDO:0861273 |
craniodiaphyseal dysplasia |
GARD:1567 |
MONDO:equivalentTo |
Craniodiaphyseal dysplasia |
|
|
MONDO:0861274 |
hirschsprung disease-deafness-polydactyly syndrome |
GARD:157 |
MONDO:equivalentTo |
Hirschsprung disease-deafness-polydactyly syndrome |
|
|
MONDO:0861275 |
craniofacial-deafness-hand syndrome |
GARD:1571 |
MONDO:equivalentTo |
Craniofacial-deafness-hand syndrome |
|
|
MONDO:0861276 |
non-syndromic bilambdoid and sagittal craniosynostosis |
GARD:1575 |
MONDO:equivalentTo |
Non-syndromic bilambdoid and sagittal craniosynostosis |
|
|
MONDO:0861277 |
craniofrontonasal dysplasia |
GARD:1578 |
MONDO:equivalentTo |
Craniofrontonasal dysplasia |
|
|
MONDO:0861278 |
sarcosinemia |
GARD:158 |
MONDO:equivalentTo |
Sarcosinemia |
|
|
MONDO:0861279 |
craniomicromelic syndrome |
GARD:1583 |
MONDO:equivalentTo |
Craniomicromelic syndrome |
|
|
MONDO:0861280 |
scalp-ear-nipple syndrome |
GARD:159 |
MONDO:equivalentTo |
Scalp-ear-nipple syndrome |
|
|
MONDO:0861281 |
ocular motor apraxia, cogan type |
GARD:16 |
MONDO:equivalentTo |
Ocular motor apraxia, Cogan type |
|
|
MONDO:0861282 |
satoyoshi syndrome |
GARD:160 |
MONDO:equivalentTo |
Satoyoshi syndrome |
|
|
MONDO:0861283 |
craniosynostosis, philadelphia type |
GARD:1601 |
MONDO:equivalentTo |
Craniosynostosis, Philadelphia type |
|
|
MONDO:0861284 |
baller-gerold syndrome |
GARD:1602 |
MONDO:equivalentTo |
Baller-Gerold syndrome |
|
|
MONDO:0861285 |
craniotelencephalic dysplasia |
GARD:1605 |
MONDO:equivalentTo |
Craniotelencephalic dysplasia |
|
|
MONDO:0861286 |
congenital limbs-face contractures-hypotonia-developmental delay syndrome |
GARD:16075 |
MONDO:equivalentTo |
Congenital limbs-face contractures-hypotonia-developmental delay syndrome |
|
|
MONDO:0861287 |
x-linked creatine transporter deficiency |
GARD:1608 |
MONDO:equivalentTo |
X-linked creatine transporter deficiency |
|
|
MONDO:0861288 |
creeping myiasis |
GARD:1609 |
MONDO:equivalentTo |
Creeping myiasis |
|
|
MONDO:0861289 |
crisponi syndrome |
GARD:1611 |
MONDO:equivalentTo |
Crisponi syndrome |
|
|
MONDO:0861290 |
familial exudative vitreoretinopathy |
GARD:1613 |
MONDO:equivalentTo |
Familial exudative vitreoretinopathy |
|
|
MONDO:0861291 |
cataract-nephropathy-encephalopathy syndrome |
GARD:1614 |
MONDO:equivalentTo |
Cataract-nephropathy-encephalopathy syndrome |
|
|
MONDO:0861292 |
crossed polysyndactyly |
GARD:1617 |
MONDO:equivalentTo |
Crossed polysyndactyly |
|
|
MONDO:0861293 |
cleft palate-large ears-small head syndrome |
GARD:162 |
MONDO:equivalentTo |
Cleft palate-large ears-small head syndrome |
|
|
MONDO:0861294 |
cryptogenic organizing pneumonia |
GARD:1620 |
MONDO:equivalentTo |
Cryptogenic organizing pneumonia |
|
|
MONDO:0861295 |
currarino syndrome |
GARD:1626 |
MONDO:equivalentTo |
Currarino syndrome |
|
|
MONDO:0861296 |
cutaneous larva migrans |
GARD:1629 |
MONDO:equivalentTo |
Cutaneous larva migrans |
|
|
MONDO:0861297 |
cutaneous photosensitivity-lethal colitis syndrome |
GARD:1633 |
MONDO:equivalentTo |
Cutaneous photosensitivity-lethal colitis syndrome |
|
|
MONDO:0861298 |
autosomal recessive cutis laxa type 2a |
GARD:1638 |
MONDO:equivalentTo |
Autosomal recessive cutis laxa type 2A |
|
|
MONDO:0861299 |
autosomal dominant cutis laxa |
GARD:1639 |
MONDO:equivalentTo |
Autosomal dominant cutis laxa |
|
|
MONDO:0861300 |
autosomal recessive cutis laxa type 2b |
GARD:1641 |
MONDO:equivalentTo |
Autosomal recessive cutis laxa type 2B |
|
|
MONDO:0861301 |
primary cutis verticis gyrata |
GARD:1643 |
MONDO:equivalentTo |
Primary cutis verticis gyrata |
|
|
MONDO:0861302 |
thyrocerebrorenal syndrome |
GARD:1646 |
MONDO:equivalentTo |
Thyrocerebrorenal syndrome |
|
|
MONDO:0861303 |
mitochondrial dna-related progressive external ophthalmoplegia |
GARD:16479 |
MONDO:equivalentTo |
Mitochondrial DNA-related progressive external ophthalmoplegia |
|
|
MONDO:0861304 |
sorsby pseudoinflammatory fundus dystrophy |
GARD:16480 |
MONDO:equivalentTo |
Sorsby pseudoinflammatory fundus dystrophy |
|
|
MONDO:0861305 |
methylmalonic aciduria due to transcobalamin receptor defect |
GARD:16481 |
MONDO:equivalentTo |
Methylmalonic aciduria due to transcobalamin receptor defect |
|
|
MONDO:0861306 |
rieger anomaly |
GARD:16482 |
MONDO:equivalentTo |
Rieger anomaly |
|
|
MONDO:0861307 |
anterior segment developmental anomaly without extraocular manifestations |
GARD:16484 |
MONDO:equivalentTo |
Anterior segment developmental anomaly without extraocular manifestations |
|
|
MONDO:0861308 |
axenfeld anomaly |
GARD:16485 |
MONDO:equivalentTo |
Axenfeld anomaly |
|
|
MONDO:0861309 |
autosomal dominant progressive external ophthalmoplegia |
GARD:16486 |
MONDO:equivalentTo |
Autosomal dominant progressive external ophthalmoplegia |
|
|
MONDO:0861310 |
c3 glomerulonephritis |
GARD:16487 |
MONDO:equivalentTo |
C3 glomerulonephritis |
|
|
MONDO:0861311 |
complement component 3 deficiency |
GARD:16489 |
MONDO:equivalentTo |
Complement component 3 deficiency |
|
|
MONDO:0861312 |
primary early-onset glaucoma |
GARD:16490 |
MONDO:equivalentTo |
Primary early-onset glaucoma |
|
|
MONDO:0861313 |
citrullinemia |
GARD:16522 |
MONDO:equivalentTo |
Citrullinemia |
|
|
MONDO:0861314 |
glycogen storage disease due to glucose-6-phosphatase deficiency |
GARD:16523 |
MONDO:equivalentTo |
Glycogen storage disease due to glucose-6-phosphatase deficiency |
|
|
MONDO:0861315 |
focal facial dermal dysplasia type i |
GARD:16524 |
MONDO:equivalentTo |
Focal facial dermal dysplasia type I |
|
|
MONDO:0861316 |
crigler-najjar syndrome |
GARD:16526 |
MONDO:equivalentTo |
Crigler-Najjar syndrome |
|
|
MONDO:0861317 |
ependymal tumor |
GARD:16527 |
MONDO:equivalentTo |
Ependymal tumor |
|
|
MONDO:0861318 |
erythrokeratodermia variabilis |
GARD:16528 |
MONDO:equivalentTo |
Erythrokeratodermia variabilis |
|
|
MONDO:0861319 |
classic hodgkin lymphoma |
GARD:16529 |
MONDO:equivalentTo |
Classic Hodgkin lymphoma |
|
|
MONDO:0861320 |
primary hyperoxaluria |
GARD:16530 |
MONDO:equivalentTo |
Primary hyperoxaluria |
|
|
MONDO:0861321 |
idiopathic/heritable pulmonary arterial hypertension |
GARD:16531 |
MONDO:equivalentTo |
Idiopathic/heritable pulmonary arterial hypertension |
|
|
MONDO:0861322 |
familial hypoaldosteronism |
GARD:16532 |
MONDO:equivalentTo |
Familial hypoaldosteronism |
|
|
MONDO:0861323 |
normosmic congenital hypogonadotropic hypogonadism |
GARD:16533 |
MONDO:equivalentTo |
Normosmic congenital hypogonadotropic hypogonadism |
|
|
MONDO:0861324 |
non-syndromic anorectal malformation |
GARD:16534 |
MONDO:equivalentTo |
Non-syndromic anorectal malformation |
|
|
MONDO:0861325 |
marfan syndrome |
GARD:16535 |
MONDO:equivalentTo |
Marfan syndrome |
|
|
MONDO:0861326 |
multiminicore myopathy |
GARD:16536 |
MONDO:equivalentTo |
Multiminicore myopathy |
|
|
MONDO:0861327 |
homocystinuria without methylmalonic aciduria |
GARD:16537 |
MONDO:equivalentTo |
Homocystinuria without methylmalonic aciduria |
|
|
MONDO:0861328 |
short stature due to isolated growth hormone deficiency with x-linked hypogammaglobulinemia |
GARD:16538 |
MONDO:equivalentTo |
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia |
|
|
MONDO:0861329 |
lcat deficiency |
GARD:16539 |
MONDO:equivalentTo |
LCAT deficiency |
|
|
MONDO:0861330 |
familial aortic dissection |
GARD:1654 |
MONDO:equivalentTo |
Familial aortic dissection |
|
|
MONDO:0861331 |
omphalocele |
GARD:16540 |
MONDO:equivalentTo |
Omphalocele |
|
|
MONDO:0861332 |
hemolytic anemia due to glucophosphate isomerase deficiency |
GARD:16541 |
MONDO:equivalentTo |
Hemolytic anemia due to glucophosphate isomerase deficiency |
|
|
MONDO:0861333 |
porokeratosis plantaris palmaris et disseminata |
GARD:16542 |
MONDO:equivalentTo |
Porokeratosis plantaris palmaris et disseminata |
|
|
MONDO:0861334 |
severe hereditary thrombophilia due to congenital protein s deficiency |
GARD:16543 |
MONDO:equivalentTo |
Severe hereditary thrombophilia due to congenital protein S deficiency |
|
|
MONDO:0861335 |
severe hereditary thrombophilia due to congenital protein c deficiency |
GARD:16544 |
MONDO:equivalentTo |
Severe hereditary thrombophilia due to congenital protein C deficiency |
|
|
MONDO:0861336 |
pseudohypoaldosteronism type 1 |
GARD:16545 |
MONDO:equivalentTo |
Pseudohypoaldosteronism type 1 |
|
|
MONDO:0861337 |
central precocious puberty |
GARD:16546 |
MONDO:equivalentTo |
Central precocious puberty |
|
|
MONDO:0861338 |
familial long qt syndrome |
GARD:16547 |
MONDO:equivalentTo |
Familial long QT syndrome |
|
|
MONDO:0861339 |
estrogen resistance syndrome |
GARD:16548 |
MONDO:equivalentTo |
Estrogen resistance syndrome |
|
|
MONDO:0861340 |
encephalopathy due to sulfite oxidase deficiency |
GARD:16549 |
MONDO:equivalentTo |
Encephalopathy due to sulfite oxidase deficiency |
|
|
MONDO:0861341 |
lown-ganong-levine syndrome |
GARD:16550 |
MONDO:equivalentTo |
Lown-Ganong-Levine syndrome |
|
|
MONDO:0861342 |
acro-renal-ocular syndrome |
GARD:16551 |
MONDO:equivalentTo |
Acro-renal-ocular syndrome |
|
|
MONDO:0861343 |
testicular regression syndrome |
GARD:16552 |
MONDO:equivalentTo |
Testicular regression syndrome |
|
|
MONDO:0861344 |
alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome |
GARD:16553 |
MONDO:equivalentTo |
Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome |
|
|
MONDO:0861345 |
autosomal recessive amelia |
GARD:16554 |
MONDO:equivalentTo |
Autosomal recessive amelia |
|
|
MONDO:0861346 |
microlissencephaly |
GARD:16555 |
MONDO:equivalentTo |
Microlissencephaly |
|
|
MONDO:0861347 |
sheldon-hall syndrome |
GARD:16556 |
MONDO:equivalentTo |
Sheldon-Hall syndrome |
|
|
MONDO:0861348 |
congenital unilateral hypoplasia of depressor anguli oris |
GARD:16557 |
MONDO:equivalentTo |
Congenital unilateral hypoplasia of depressor anguli oris |
|
|
MONDO:0861349 |
x-linked progressive cerebellar ataxia |
GARD:16558 |
MONDO:equivalentTo |
X-linked progressive cerebellar ataxia |
|
|
MONDO:0861350 |
ataxia-tapetoretinal degeneration syndrome |
GARD:16559 |
MONDO:equivalentTo |
Ataxia-tapetoretinal degeneration syndrome |
|
|
MONDO:0861351 |
spastic ataxia with congenital miosis |
GARD:16560 |
MONDO:equivalentTo |
Spastic ataxia with congenital miosis |
|
|
MONDO:0861352 |
tmem70-related mitochondrial encephalo-cardio-myopathy |
GARD:16561 |
MONDO:equivalentTo |
TMEM70-related mitochondrial encephalo-cardio-myopathy |
|
|
MONDO:0861353 |
brachytelephalangy-dysmorphism-kallmann syndrome |
GARD:16562 |
MONDO:equivalentTo |
Brachytelephalangy-dysmorphism-Kallmann syndrome |
|
|
MONDO:0861354 |
hyperkeratosis-hyperpigmentation syndrome |
GARD:16563 |
MONDO:equivalentTo |
Hyperkeratosis-hyperpigmentation syndrome |
|
|
MONDO:0861355 |
atrial standstill |
GARD:16564 |
MONDO:equivalentTo |
Atrial standstill |
|
|
MONDO:0861356 |
chondrodysplasia-disorder of sex development syndrome |
GARD:16565 |
MONDO:equivalentTo |
Chondrodysplasia-disorder of sex development syndrome |
|
|
MONDO:0861357 |
atrial septal defect-atrioventricular conduction defects syndrome |
GARD:16566 |
MONDO:equivalentTo |
Atrial septal defect-atrioventricular conduction defects syndrome |
|
|
MONDO:0861358 |
cooper-jabs syndrome |
GARD:16567 |
MONDO:equivalentTo |
Cooper-Jabs syndrome |
|
|
MONDO:0861359 |
autosomal recessive robinow syndrome |
GARD:16568 |
MONDO:equivalentTo |
Autosomal recessive Robinow syndrome |
|
|
MONDO:0861360 |
fatal infantile cytochrome c oxidase deficiency |
GARD:16569 |
MONDO:equivalentTo |
Fatal infantile cytochrome C oxidase deficiency |
|
|
MONDO:0861361 |
monosomy 13q14 |
GARD:16570 |
MONDO:equivalentTo |
Monosomy 13q14 |
|
|
MONDO:0861362 |
distal monosomy 13q |
GARD:16571 |
MONDO:equivalentTo |
Distal monosomy 13q |
|
|
MONDO:0861363 |
distal monosomy 15q |
GARD:16572 |
MONDO:equivalentTo |
Distal monosomy 15q |
|
|
MONDO:0861364 |
3q13 microdeletion syndrome |
GARD:16573 |
MONDO:equivalentTo |
3q13 microdeletion syndrome |
|
|
MONDO:0861365 |
partial chromosome y deletion |
GARD:16574 |
MONDO:equivalentTo |
Partial chromosome Y deletion |
|
|
MONDO:0861366 |
dentin dysplasia |
GARD:16575 |
MONDO:equivalentTo |
Dentin dysplasia |
|
|
MONDO:0861367 |
chronic diarrhea with villous atrophy |
GARD:16576 |
MONDO:equivalentTo |
Chronic diarrhea with villous atrophy |
|
|
MONDO:0861368 |
arterial dissection-lentiginosis syndrome |
GARD:16577 |
MONDO:equivalentTo |
Arterial dissection-lentiginosis syndrome |
|
|
MONDO:0861369 |
ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome |
GARD:16578 |
MONDO:equivalentTo |
Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome |
|
|
MONDO:0861370 |
renal agenesis, bilateral |
GARD:16579 |
MONDO:equivalentTo |
Renal agenesis, bilateral |
|
|
MONDO:0861371 |
diabetic embryopathy |
GARD:16580 |
MONDO:equivalentTo |
Diabetic embryopathy |
|
|
MONDO:0861372 |
early myoclonic encephalopathy |
GARD:16581 |
MONDO:equivalentTo |
Early myoclonic encephalopathy |
|
|
MONDO:0861373 |
hereditary gingival fibromatosis |
GARD:16582 |
MONDO:equivalentTo |
Hereditary gingival fibromatosis |
|
|
MONDO:0861374 |
juvenile hyaline fibromatosis |
GARD:16583 |
MONDO:equivalentTo |
Juvenile hyaline fibromatosis |
|
|
MONDO:0861375 |
x-linked intellectual disability-epilepsy syndrome |
GARD:16584 |
MONDO:equivalentTo |
X-linked intellectual disability-epilepsy syndrome |
|
|
MONDO:0861376 |
46,xx ovotesticular disorder of sex development |
GARD:16585 |
MONDO:equivalentTo |
46,XX ovotesticular disorder of sex development |
|
|
MONDO:0861377 |
nodular neuronal heterotopia |
GARD:16586 |
MONDO:equivalentTo |
Nodular neuronal heterotopia |
|
|
MONDO:0861378 |
idiopathic hypercalciuria |
GARD:16587 |
MONDO:equivalentTo |
Idiopathic hypercalciuria |
|
|
MONDO:0861379 |
primary hypergonadotropic hypogonadism-partial alopecia syndrome |
GARD:16588 |
MONDO:equivalentTo |
Primary hypergonadotropic hypogonadism-partial alopecia syndrome |
|
|
MONDO:0861380 |
familial isolated hypoparathyroidism due to agenesis of parathyroid gland |
GARD:16589 |
MONDO:equivalentTo |
Familial isolated hypoparathyroidism due to agenesis of parathyroid gland |
|
|
MONDO:0861381 |
hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome |
GARD:16590 |
MONDO:equivalentTo |
Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome |
|
|
MONDO:0861382 |
primary pulmonary hypoplasia |
GARD:16591 |
MONDO:equivalentTo |
Primary pulmonary hypoplasia |
|
|
MONDO:0861383 |
congenital short bowel syndrome |
GARD:16592 |
MONDO:equivalentTo |
Congenital short bowel syndrome |
|
|
MONDO:0861384 |
absence deformity of leg-cataract syndrome |
GARD:16593 |
MONDO:equivalentTo |
Absence deformity of leg-cataract syndrome |
|
|
MONDO:0861385 |
kenny-caffey syndrome |
GARD:16594 |
MONDO:equivalentTo |
Kenny-Caffey syndrome |
|
|
MONDO:0861386 |
larsen-like osseous dysplasia-short stature syndrome |
GARD:16595 |
MONDO:equivalentTo |
Larsen-like osseous dysplasia-short stature syndrome |
|
|
MONDO:0861387 |
congenital laryngeal web |
GARD:16596 |
MONDO:equivalentTo |
Congenital laryngeal web |
|
|
MONDO:0861388 |
laryngeal abductor paralysis-intellectual disability syndrome |
GARD:16597 |
MONDO:equivalentTo |
Laryngeal abductor paralysis-intellectual disability syndrome |
|
|
MONDO:0861389 |
macrocephaly-spastic paraplegia-dysmorphism syndrome |
GARD:16598 |
MONDO:equivalentTo |
Macrocephaly-spastic paraplegia-dysmorphism syndrome |
|
|
MONDO:0861390 |
congenital macroglossia |
GARD:16599 |
MONDO:equivalentTo |
Congenital macroglossia |
|
|
MONDO:0861391 |
schizencephaly |
GARD:166 |
MONDO:equivalentTo |
Schizencephaly |
|
|
MONDO:0861392 |
mucocutaneous venous malformations |
GARD:16600 |
MONDO:equivalentTo |
Mucocutaneous venous malformations |
|
|
MONDO:0861393 |
megalencephaly |
GARD:16601 |
MONDO:equivalentTo |
Megalencephaly |
|
|
MONDO:0861394 |
upper limb defect-eye and ear abnormalities syndrome |
GARD:16602 |
MONDO:equivalentTo |
Upper limb defect-eye and ear abnormalities syndrome |
|
|
MONDO:0861395 |
autosomal recessive chorioretinopathy-microcephaly syndrome |
GARD:16603 |
MONDO:equivalentTo |
Autosomal recessive chorioretinopathy-microcephaly syndrome |
|
|
MONDO:0861396 |
hypomyelination neuropathy-arthrogryposis syndrome |
GARD:16604 |
MONDO:equivalentTo |
Hypomyelination neuropathy-arthrogryposis syndrome |
|
|
MONDO:0861397 |
adult idiopathic neutropenia |
GARD:16605 |
MONDO:equivalentTo |
Adult idiopathic neutropenia |
|
|
MONDO:0861398 |
oculo-palato-cerebral syndrome |
GARD:16606 |
MONDO:equivalentTo |
Oculo-palato-cerebral syndrome |
|
|
MONDO:0861399 |
oculotrichodysplasia |
GARD:16607 |
MONDO:equivalentTo |
Oculotrichodysplasia |
|
|
MONDO:0861400 |
omodysplasia |
GARD:16608 |
MONDO:equivalentTo |
Omodysplasia |
|
|
MONDO:0861401 |
familial recurrent peripheral facial palsy |
GARD:16609 |
MONDO:equivalentTo |
Familial recurrent peripheral facial palsy |
|
|
MONDO:0861402 |
young-onset parkinson disease |
GARD:16610 |
MONDO:equivalentTo |
Young-onset Parkinson disease |
|
|
MONDO:0861403 |
pelvis-shoulder dysplasia |
GARD:16611 |
MONDO:equivalentTo |
Pelvis-shoulder dysplasia |
|
|
MONDO:0861404 |
short stature-valvular heart disease-characteristic facies syndrome |
GARD:16612 |
MONDO:equivalentTo |
Short stature-valvular heart disease-characteristic facies syndrome |
|
|
MONDO:0861405 |
phosphoenolpyruvate carboxykinase deficiency |
GARD:16613 |
MONDO:equivalentTo |
Phosphoenolpyruvate carboxykinase deficiency |
|
|
MONDO:0861406 |
postaxial polydactyly-dental and vertebral anomalies syndrome |
GARD:16614 |
MONDO:equivalentTo |
Postaxial polydactyly-dental and vertebral anomalies syndrome |
|
|
MONDO:0861407 |
absent thumb-short stature-immunodeficiency syndrome |
GARD:16615 |
MONDO:equivalentTo |
Absent thumb-short stature-immunodeficiency syndrome |
|
|
MONDO:0861408 |
leukocyte adhesion deficiency |
GARD:16616 |
MONDO:equivalentTo |
Leukocyte adhesion deficiency |
|
|
MONDO:0861409 |
46,xx disorder of sex development-skeletal anomalies syndrome |
GARD:16617 |
MONDO:equivalentTo |
46,XX disorder of sex development-skeletal anomalies syndrome |
|
|
MONDO:0861410 |
blepharophimosis-intellectual disability syndrome, sbbys type |
GARD:16618 |
MONDO:equivalentTo |
Blepharophimosis-intellectual disability syndrome, SBBYS type |
|
|
MONDO:0861411 |
fixed subaortic stenosis |
GARD:16619 |
MONDO:equivalentTo |
Fixed subaortic stenosis |
|
|
MONDO:0861412 |
autosomal dominant robinow syndrome |
GARD:16620 |
MONDO:equivalentTo |
Autosomal dominant Robinow syndrome |
|
|
MONDO:0861413 |
alpha-n-acetylgalactosaminidase deficiency |
GARD:16621 |
MONDO:equivalentTo |
Alpha-N-acetylgalactosaminidase deficiency |
|
|
MONDO:0861414 |
x-linked spasticity-intellectual disability-epilepsy syndrome |
GARD:16622 |
MONDO:equivalentTo |
X-linked spasticity-intellectual disability-epilepsy syndrome |
|
|
MONDO:0861415 |
congenital pulmonary valvar stenosis |
GARD:16623 |
MONDO:equivalentTo |
Congenital pulmonary valvar stenosis |
|
|
MONDO:0861416 |
deafness-onychodystrophy syndrome |
GARD:16624 |
MONDO:equivalentTo |
Deafness-onychodystrophy syndrome |
|
|
MONDO:0861417 |
idiopathic hypereosinophilic syndrome |
GARD:16625 |
MONDO:equivalentTo |
Idiopathic hypereosinophilic syndrome |
|
|
MONDO:0861418 |
non-syndromic metopic craniosynostosis |
GARD:16626 |
MONDO:equivalentTo |
Non-syndromic metopic craniosynostosis |
|
|
MONDO:0861419 |
truncus arteriosus |
GARD:16627 |
MONDO:equivalentTo |
Truncus arteriosus |
|
|
MONDO:0861420 |
hereditary xanthinuria |
GARD:16628 |
MONDO:equivalentTo |
Hereditary xanthinuria |
|
|
MONDO:0861421 |
hereditary central diabetes insipidus |
GARD:16629 |
MONDO:equivalentTo |
Hereditary central diabetes insipidus |
|
|
MONDO:0861422 |
neuroectodermal melanolysosomal disease |
GARD:16630 |
MONDO:equivalentTo |
Neuroectodermal melanolysosomal disease |
|
|
MONDO:0861423 |
glutamate-cysteine ligase deficiency |
GARD:16631 |
MONDO:equivalentTo |
Glutamate-cysteine ligase deficiency |
|
|
MONDO:0861424 |
t-b+ severe combined immunodeficiency due to jak3 deficiency |
GARD:16632 |
MONDO:equivalentTo |
T-B+ severe combined immunodeficiency due to JAK3 deficiency |
|
|
MONDO:0861425 |
non-syndromic sagittal craniosynostosis |
GARD:16633 |
MONDO:equivalentTo |
Non-syndromic sagittal craniosynostosis |
|
|
MONDO:0861426 |
non-syndromic bicoronal craniosynostosis |
GARD:16634 |
MONDO:equivalentTo |
Non-syndromic bicoronal craniosynostosis |
|
|
MONDO:0861427 |
hemolytic anemia due to pyrimidine 5' nucleotidase deficiency |
GARD:16635 |
MONDO:equivalentTo |
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency |
|
|
MONDO:0861428 |
lysosomal acid phosphatase deficiency |
GARD:16636 |
MONDO:equivalentTo |
Lysosomal acid phosphatase deficiency |
|
|
MONDO:0861429 |
nanophthalmos |
GARD:16637 |
MONDO:equivalentTo |
Nanophthalmos |
|
|
MONDO:0861430 |
aldh18a1-related de barsy syndrome |
GARD:16638 |
MONDO:equivalentTo |
ALDH18A1-related De Barsy syndrome |
|
|
MONDO:0861431 |
combined deficiency of factor v and factor viii |
GARD:16639 |
MONDO:equivalentTo |
Combined deficiency of factor V and factor VIII |
|
|
MONDO:0861432 |
distal monosomy 1q |
GARD:16640 |
MONDO:equivalentTo |
Distal monosomy 1q |
|
|
MONDO:0861433 |
episodic ataxia type 1 |
GARD:16641 |
MONDO:equivalentTo |
Episodic ataxia type 1 |
|
|
MONDO:0861434 |
graft versus host disease |
GARD:16642 |
MONDO:equivalentTo |
Graft versus host disease |
|
|
MONDO:0861435 |
hereditary myopathy with lactic acidosis due to iscu deficiency |
GARD:16643 |
MONDO:equivalentTo |
Hereditary myopathy with lactic acidosis due to ISCU deficiency |
|
|
MONDO:0861436 |
proximal renal tubular acidosis |
GARD:16644 |
MONDO:equivalentTo |
Proximal renal tubular acidosis |
|
|
MONDO:0861437 |
congenital cataracts-facial dysmorphism-neuropathy syndrome |
GARD:16645 |
MONDO:equivalentTo |
Congenital cataracts-facial dysmorphism-neuropathy syndrome |
|
|
MONDO:0861438 |
lipodystrophy-intellectual disability-deafness syndrome |
GARD:16646 |
MONDO:equivalentTo |
Lipodystrophy-intellectual disability-deafness syndrome |
|
|
MONDO:0861439 |
craniolenticulosutural dysplasia |
GARD:16647 |
MONDO:equivalentTo |
Craniolenticulosutural dysplasia |
|
|
MONDO:0861440 |
branchiogenic deafness syndrome |
GARD:16648 |
MONDO:equivalentTo |
Branchiogenic deafness syndrome |
|
|
MONDO:0861441 |
schöpf-schulz-passarge syndrome |
GARD:16649 |
MONDO:equivalentTo |
Schöpf-Schulz-Passarge syndrome |
|
|
MONDO:0861442 |
familial short qt syndrome |
GARD:16650 |
MONDO:equivalentTo |
Familial short QT syndrome |
|
|
MONDO:0861443 |
torsade-de-pointes syndrome with short coupling interval |
GARD:16651 |
MONDO:equivalentTo |
Torsade-de-pointes syndrome with short coupling interval |
|
|
MONDO:0861444 |
braddock syndrome |
GARD:16652 |
MONDO:equivalentTo |
Braddock syndrome |
|
|
MONDO:0861445 |
craniosynostosis-intracranial calcifications syndrome |
GARD:16653 |
MONDO:equivalentTo |
Craniosynostosis-intracranial calcifications syndrome |
|
|
MONDO:0861446 |
ulnar/fibula ray defect-brachydactyly syndrome |
GARD:16654 |
MONDO:equivalentTo |
Ulnar/fibula ray defect-brachydactyly syndrome |
|
|
MONDO:0861447 |
retinitis punctata albescens |
GARD:16655 |
MONDO:equivalentTo |
Retinitis punctata albescens |
|
|
MONDO:0861448 |
paroxysmal dystonic choreathetosis with episodic ataxia and spasticity |
GARD:16656 |
MONDO:equivalentTo |
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity |
|
|
MONDO:0861449 |
congenital cornea plana |
GARD:16657 |
MONDO:equivalentTo |
Congenital cornea plana |
|
|
MONDO:0861450 |
arthrogryposis-anterior horn cell disease syndrome |
GARD:16658 |
MONDO:equivalentTo |
Arthrogryposis-anterior horn cell disease syndrome |
|
|
MONDO:0861451 |
thrombotic thrombocytopenic purpura |
GARD:16659 |
MONDO:equivalentTo |
Thrombotic thrombocytopenic purpura |
|
|
MONDO:0861452 |
hydrocephaly-tall stature-joint laxity syndrome |
GARD:1666 |
MONDO:equivalentTo |
Hydrocephaly-tall stature-joint laxity syndrome |
|
|
MONDO:0861453 |
adamantinoma |
GARD:16660 |
MONDO:equivalentTo |
Adamantinoma |
|
|
MONDO:0861454 |
schilder disease |
GARD:16661 |
MONDO:equivalentTo |
Schilder disease |
|
|
MONDO:0861455 |
enlarged parietal foramina |
GARD:16662 |
MONDO:equivalentTo |
Enlarged parietal foramina |
|
|
MONDO:0861456 |
pulmonary nodular lymphoid hyperplasia |
GARD:16663 |
MONDO:equivalentTo |
Pulmonary nodular lymphoid hyperplasia |
|
|
MONDO:0861457 |
idiopathic bronchiectasis |
GARD:16664 |
MONDO:equivalentTo |
Idiopathic bronchiectasis |
|
|
MONDO:0861458 |
antley-bixler syndrome with genital anomaly and disorder of steroidogenesis |
GARD:16665 |
MONDO:equivalentTo |
Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis |
|
|
MONDO:0861459 |
distal myopathy with posterior leg and anterior hand involvement |
GARD:16666 |
MONDO:equivalentTo |
Distal myopathy with posterior leg and anterior hand involvement |
|
|
MONDO:0861460 |
childhood absence epilepsy |
GARD:16667 |
MONDO:equivalentTo |
Childhood absence epilepsy |
|
|
MONDO:0861461 |
ovarian hyperstimulation syndrome |
GARD:16668 |
MONDO:equivalentTo |
Ovarian hyperstimulation syndrome |
|
|
MONDO:0861462 |
beta-ureidopropionase deficiency |
GARD:16669 |
MONDO:equivalentTo |
Beta-ureidopropionase deficiency |
|
|
MONDO:0861463 |
permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome |
GARD:16670 |
MONDO:equivalentTo |
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome |
|
|
MONDO:0861464 |
isolated focal cortical dysplasia |
GARD:16671 |
MONDO:equivalentTo |
Isolated focal cortical dysplasia |
|
|
MONDO:0861465 |
arthrogryposis-severe scoliosis syndrome |
GARD:16672 |
MONDO:equivalentTo |
Arthrogryposis-severe scoliosis syndrome |
|
|
MONDO:0861466 |
congenital pseudoarthrosis of the clavicle |
GARD:16673 |
MONDO:equivalentTo |
Congenital pseudoarthrosis of the clavicle |
|
|
MONDO:0861467 |
diaphanospondylodysostosis |
GARD:16674 |
MONDO:equivalentTo |
Diaphanospondylodysostosis |
|
|
MONDO:0861468 |
hyaluronidase deficiency |
GARD:16675 |
MONDO:equivalentTo |
Hyaluronidase deficiency |
|
|
MONDO:0861469 |
thrombocytopenia with congenital dyserythropoietic anemia |
GARD:16676 |
MONDO:equivalentTo |
Thrombocytopenia with congenital dyserythropoietic anemia |
|
|
MONDO:0861470 |
x-linked intellectual disability with isolated growth hormone deficiency |
GARD:16677 |
MONDO:equivalentTo |
X-linked intellectual disability with isolated growth hormone deficiency |
|
|
MONDO:0861471 |
idiopathic steroid-sensitive nephrotic syndrome |
GARD:16678 |
MONDO:equivalentTo |
Idiopathic steroid-sensitive nephrotic syndrome |
|
|
MONDO:0861472 |
odonto-tricho-ungual-digito-palmar syndrome |
GARD:16679 |
MONDO:equivalentTo |
Odonto-tricho-ungual-digito-palmar syndrome |
|
|
MONDO:0861473 |
pure hair and nail ectodermal dysplasia |
GARD:16680 |
MONDO:equivalentTo |
Pure hair and nail ectodermal dysplasia |
|
|
MONDO:0861474 |
anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome |
GARD:16681 |
MONDO:equivalentTo |
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome |
|
|
MONDO:0861475 |
anonychia with flexural pigmentation |
GARD:16682 |
MONDO:equivalentTo |
Anonychia with flexural pigmentation |
|
|
MONDO:0861476 |
low phospholipid-associated cholelithiasis |
GARD:16683 |
MONDO:equivalentTo |
Low phospholipid-associated cholelithiasis |
|
|
MONDO:0861477 |
bosley-salih-alorainy syndrome |
GARD:16684 |
MONDO:equivalentTo |
Bosley-Salih-Alorainy syndrome |
|
|
MONDO:0861478 |
leigh syndrome with cardiomyopathy |
GARD:16685 |
MONDO:equivalentTo |
Leigh syndrome with cardiomyopathy |
|
|
MONDO:0861479 |
split hand-split foot-deafness syndrome |
GARD:16686 |
MONDO:equivalentTo |
Split hand-split foot-deafness syndrome |
|
|
MONDO:0861480 |
radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome |
GARD:16687 |
MONDO:equivalentTo |
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome |
|
|
MONDO:0861481 |
familial thrombocytosis |
GARD:16688 |
MONDO:equivalentTo |
Familial thrombocytosis |
|
|
MONDO:0861482 |
obesity due to prohormone convertase i deficiency |
GARD:16689 |
MONDO:equivalentTo |
Obesity due to prohormone convertase I deficiency |
|
|
MONDO:0861483 |
dandy-walker malformation-postaxial polydactyly syndrome |
GARD:1669 |
MONDO:equivalentTo |
Dandy-Walker malformation-postaxial polydactyly syndrome |
|
|
MONDO:0861484 |
obesity due to melanocortin 4 receptor deficiency |
GARD:16690 |
MONDO:equivalentTo |
Obesity due to melanocortin 4 receptor deficiency |
|
|
MONDO:0861485 |
bleeding diathesis due to a collagen receptor defect |
GARD:16691 |
MONDO:equivalentTo |
Bleeding diathesis due to a collagen receptor defect |
|
|
MONDO:0861486 |
familial isolated restrictive cardiomyopathy |
GARD:16692 |
MONDO:equivalentTo |
Familial isolated restrictive cardiomyopathy |
|
|
MONDO:0861487 |
retinal arterial tortuosity |
GARD:16693 |
MONDO:equivalentTo |
Retinal arterial tortuosity |
|
|
MONDO:0861488 |
cystoid macular dystrophy |
GARD:16694 |
MONDO:equivalentTo |
Cystoid macular dystrophy |
|
|
MONDO:0861489 |
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency |
GARD:16695 |
MONDO:equivalentTo |
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency |
|
|
MONDO:0861490 |
juvenile polyposis of infancy |
GARD:16696 |
MONDO:equivalentTo |
Juvenile polyposis of infancy |
|
|
MONDO:0861491 |
grange syndrome |
GARD:16697 |
MONDO:equivalentTo |
Grange syndrome |
|
|
MONDO:0861492 |
eiken syndrome |
GARD:16698 |
MONDO:equivalentTo |
Eiken syndrome |
|
|
MONDO:0861493 |
neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome |
GARD:16699 |
MONDO:equivalentTo |
Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome |
|
|
MONDO:0861494 |
lymphoid interstitial pneumonia |
GARD:16700 |
MONDO:equivalentTo |
Lymphoid interstitial pneumonia |
|
|
MONDO:0861495 |
dend syndrome |
GARD:16701 |
MONDO:equivalentTo |
DEND syndrome |
|
|
MONDO:0861496 |
episodic ataxia type 3 |
GARD:16702 |
MONDO:equivalentTo |
Episodic ataxia type 3 |
|
|
MONDO:0861497 |
episodic ataxia type 4 |
GARD:16703 |
MONDO:equivalentTo |
Episodic ataxia type 4 |
|
|
MONDO:0861498 |
generalized epilepsy-paroxysmal dyskinesia syndrome |
GARD:16704 |
MONDO:equivalentTo |
Generalized epilepsy-paroxysmal dyskinesia syndrome |
|
|
MONDO:0861499 |
hereditary painful callosities |
GARD:16705 |
MONDO:equivalentTo |
Hereditary painful callosities |
|
|
MONDO:0861500 |
familial progressive hyperpigmentation |
GARD:16706 |
MONDO:equivalentTo |
Familial progressive hyperpigmentation |
|
|
MONDO:0861501 |
acrokeratosis verruciformis of hopf |
GARD:16707 |
MONDO:equivalentTo |
Acrokeratosis verruciformis of Hopf |
|
|
MONDO:0861502 |
2-aminoadipic 2-oxoadipic aciduria |
GARD:16708 |
MONDO:equivalentTo |
2-aminoadipic 2-oxoadipic aciduria |
|
|
MONDO:0861503 |
seizures-intellectual disability due to hydroxylysinuria syndrome |
GARD:16709 |
MONDO:equivalentTo |
Seizures-intellectual disability due to hydroxylysinuria syndrome |
|
|
MONDO:0861504 |
multinodular goiter-cystic kidney-polydactyly syndrome |
GARD:1671 |
MONDO:equivalentTo |
Multinodular goiter-cystic kidney-polydactyly syndrome |
|
|
MONDO:0861505 |
hypoxanthine guanine phosphoribosyltransferase partial deficiency |
GARD:16710 |
MONDO:equivalentTo |
Hypoxanthine guanine phosphoribosyltransferase partial deficiency |
|
|
MONDO:0861506 |
glycogen storage disease due to liver and muscle phosphorylase kinase deficiency |
GARD:16711 |
MONDO:equivalentTo |
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency |
|
|
MONDO:0861507 |
pyruvate dehydrogenase e2 deficiency |
GARD:16712 |
MONDO:equivalentTo |
Pyruvate dehydrogenase E2 deficiency |
|
|
MONDO:0861508 |
congenital bile acid synthesis defect type 3 |
GARD:16713 |
MONDO:equivalentTo |
Congenital bile acid synthesis defect type 3 |
|
|
MONDO:0861509 |
vitamin b12-unresponsive methylmalonic acidemia type mut- |
GARD:16714 |
MONDO:equivalentTo |
Vitamin B12-unresponsive methylmalonic acidemia type mut- |
|
|
MONDO:0861510 |
chondrodysplasia punctata, tibial-metacarpal type |
GARD:16715 |
MONDO:equivalentTo |
Chondrodysplasia punctata, tibial-metacarpal type |
|
|
MONDO:0861511 |
chondrodysplasia punctata, toriello type |
GARD:16716 |
MONDO:equivalentTo |
Chondrodysplasia punctata, Toriello type |
|
|
MONDO:0861512 |
3-phosphoserine phosphatase deficiency, infantile/juvenile form |
GARD:16717 |
MONDO:equivalentTo |
3-phosphoserine phosphatase deficiency, infantile/juvenile form |
|
|
MONDO:0861513 |
3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form |
GARD:16718 |
MONDO:equivalentTo |
3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form |
|
|
MONDO:0861514 |
keratoderma hereditarium mutilans with ichthyosis |
GARD:16719 |
MONDO:equivalentTo |
Keratoderma hereditarium mutilans with ichthyosis |
|
|
MONDO:0861515 |
recessive dystrophic epidermolysis bullosa inversa |
GARD:16720 |
MONDO:equivalentTo |
Recessive dystrophic epidermolysis bullosa inversa |
|
|
MONDO:0861516 |
oculocutaneous albinism type 1a |
GARD:16721 |
MONDO:equivalentTo |
Oculocutaneous albinism type 1A |
|
|
MONDO:0861517 |
oculocutaneous albinism type 4 |
GARD:16722 |
MONDO:equivalentTo |
Oculocutaneous albinism type 4 |
|
|
MONDO:0861518 |
maculopapular cutaneous mastocytosis |
GARD:16723 |
MONDO:equivalentTo |
Maculopapular cutaneous mastocytosis |
|
|
MONDO:0861519 |
cholesterol-ester transfer protein deficiency |
GARD:16724 |
MONDO:equivalentTo |
Cholesterol-ester transfer protein deficiency |
|
|
MONDO:0861520 |
hypotonia-failure to thrive-microcephaly syndrome |
GARD:16725 |
MONDO:equivalentTo |
Hypotonia-failure to thrive-microcephaly syndrome |
|
|
MONDO:0861521 |
autosomal recessive hyperinsulinism due to sur1 deficiency |
GARD:16726 |
MONDO:equivalentTo |
Autosomal recessive hyperinsulinism due to SUR1 deficiency |
|
|
MONDO:0861522 |
autosomal recessive hyperinsulinism due to kir6.2 deficiency |
GARD:16727 |
MONDO:equivalentTo |
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency |
|
|
MONDO:0861523 |
glomuvenous malformation |
GARD:16728 |
MONDO:equivalentTo |
Glomuvenous malformation |
|
|
MONDO:0861524 |
enteric anendocrinosis |
GARD:16729 |
MONDO:equivalentTo |
Enteric anendocrinosis |
|
|
MONDO:0861525 |
senior-boichis syndrome |
GARD:16730 |
MONDO:equivalentTo |
Senior-Boichis syndrome |
|
|
MONDO:0861526 |
hereditary thermosensitive neuropathy |
GARD:16731 |
MONDO:equivalentTo |
Hereditary thermosensitive neuropathy |
|
|
MONDO:0861527 |
desmin-related myopathy with mallory body-like inclusions |
GARD:16732 |
MONDO:equivalentTo |
Desmin-related myopathy with Mallory body-like inclusions |
|
|
MONDO:0861528 |
palmoplantar keratoderma-xx sex reversal-predisposition to squamous cell carcinoma syndrome |
GARD:16733 |
MONDO:equivalentTo |
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome |
|
|
MONDO:0861529 |
bothnia retinal dystrophy |
GARD:16734 |
MONDO:equivalentTo |
Bothnia retinal dystrophy |
|
|
MONDO:0861530 |
familial digital arthropathy-brachydactyly |
GARD:16735 |
MONDO:equivalentTo |
Familial digital arthropathy-brachydactyly |
|
|
MONDO:0861531 |
microcephalic osteodysplastic dysplasia, saul-wilson type |
GARD:16736 |
MONDO:equivalentTo |
Microcephalic osteodysplastic dysplasia, Saul-Wilson type |
|
|
MONDO:0861532 |
craniometadiaphyseal dysplasia, wormian bone type |
GARD:16737 |
MONDO:equivalentTo |
Craniometadiaphyseal dysplasia, wormian bone type |
|
|
MONDO:0861533 |
metaphyseal dysplasia, braun-tinschert type |
GARD:16738 |
MONDO:equivalentTo |
Metaphyseal dysplasia, Braun-Tinschert type |
|
|
MONDO:0861534 |
calvarial doughnut lesions-bone fragility syndrome |
GARD:16739 |
MONDO:equivalentTo |
Calvarial doughnut lesions-bone fragility syndrome |
|
|
MONDO:0861535 |
spondylo-ocular syndrome |
GARD:16740 |
MONDO:equivalentTo |
Spondylo-ocular syndrome |
|
|
MONDO:0861536 |
genochondromatosis type 1 |
GARD:16741 |
MONDO:equivalentTo |
Genochondromatosis type 1 |
|
|
MONDO:0861537 |
x-linked intellectual disability, armfield type |
GARD:16742 |
MONDO:equivalentTo |
X-linked intellectual disability, Armfield type |
|
|
MONDO:0861538 |
x-linked intellectual disability, cantagrel type |
GARD:16743 |
MONDO:equivalentTo |
X-linked intellectual disability, Cantagrel type |
|
|
MONDO:0861539 |
kdm5c-related syndromic x-linked intellectual disability |
GARD:16744 |
MONDO:equivalentTo |
KDM5C-related syndromic X-linked intellectual disability |
|
|
MONDO:0861540 |
x-linked intellectual disability-cubitus valgus-dysmorphism syndrome |
GARD:16745 |
MONDO:equivalentTo |
X-linked intellectual disability-cubitus valgus-dysmorphism syndrome |
|
|
MONDO:0861541 |
bresek syndrome |
GARD:16746 |
MONDO:equivalentTo |
BRESEK syndrome |
|
|
MONDO:0861542 |
x-linked intellectual disability, wilson type |
GARD:16747 |
MONDO:equivalentTo |
X-linked intellectual disability, Wilson type |
|
|
MONDO:0861543 |
x-linked epilepsy-learning disabilities-behavior disorders syndrome |
GARD:16748 |
MONDO:equivalentTo |
X-linked epilepsy-learning disabilities-behavior disorders syndrome |
|
|
MONDO:0861544 |
hsd10 disease, atypical type |
GARD:16749 |
MONDO:equivalentTo |
HSD10 disease, atypical type |
|
|
MONDO:0861545 |
deafness-intellectual disability syndrome, martin-probst type |
GARD:16750 |
MONDO:equivalentTo |
Deafness-intellectual disability syndrome, Martin-Probst type |
|
|
MONDO:0861546 |
x-linked intellectual disability, shrimpton type |
GARD:16751 |
MONDO:equivalentTo |
X-linked intellectual disability, Shrimpton type |
|
|
MONDO:0861547 |
x-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome |
GARD:16752 |
MONDO:equivalentTo |
X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome |
|
|
MONDO:0861548 |
fried syndrome |
GARD:16753 |
MONDO:equivalentTo |
Fried syndrome |
|
|
MONDO:0861549 |
attrv30m amyloidosis |
GARD:16754 |
MONDO:equivalentTo |
ATTRV30M amyloidosis |
|
|
MONDO:0861550 |
attrv122i amyloidosis |
GARD:16755 |
MONDO:equivalentTo |
ATTRV122I amyloidosis |
|
|
MONDO:0861551 |
x-linked reticulate pigmentary disorder |
GARD:16756 |
MONDO:equivalentTo |
X-linked reticulate pigmentary disorder |
|
|
MONDO:0861552 |
helicoid peripapillary chorioretinal degeneration |
GARD:16757 |
MONDO:equivalentTo |
Helicoid peripapillary chorioretinal degeneration |
|
|
MONDO:0861553 |
benign adult familial myoclonic epilepsy |
GARD:16758 |
MONDO:equivalentTo |
Benign adult familial myoclonic epilepsy |
|
|
MONDO:0861554 |
aplasia of lacrimal and salivary glands |
GARD:16759 |
MONDO:equivalentTo |
Aplasia of lacrimal and salivary glands |
|
|
MONDO:0861555 |
hemolytic anemia due to adenylate kinase deficiency |
GARD:16760 |
MONDO:equivalentTo |
Hemolytic anemia due to adenylate kinase deficiency |
|
|
MONDO:0861556 |
alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome |
GARD:16761 |
MONDO:equivalentTo |
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome |
|
|
MONDO:0861557 |
atrichia with papular lesions |
GARD:16762 |
MONDO:equivalentTo |
Atrichia with papular lesions |
|
|
MONDO:0861558 |
lissencephaly type 3-metacarpal bone dysplasia syndrome |
GARD:16763 |
MONDO:equivalentTo |
Lissencephaly type 3-metacarpal bone dysplasia syndrome |
|
|
MONDO:0861559 |
chronic myeloproliferative disease, unclassifiable |
GARD:16764 |
MONDO:equivalentTo |
Chronic myeloproliferative disease, unclassifiable |
|
|
MONDO:0861560 |
interdigitating dendritic cell sarcoma |
GARD:16765 |
MONDO:equivalentTo |
Interdigitating dendritic cell sarcoma |
|
|
MONDO:0861561 |
keratosis palmaris et plantaris-clinodactyly syndrome |
GARD:16766 |
MONDO:equivalentTo |
Keratosis palmaris et plantaris-clinodactyly syndrome |
|
|
MONDO:0861562 |
hereditary palmoplantar keratoderma, gamborg-nielsen type |
GARD:16767 |
MONDO:equivalentTo |
Hereditary palmoplantar keratoderma, Gamborg-Nielsen type |
|
|
MONDO:0861563 |
tritanopia |
GARD:16768 |
MONDO:equivalentTo |
Tritanopia |
|
|
MONDO:0861564 |
terminal osseous dysplasia-pigmentary defects syndrome |
GARD:16769 |
MONDO:equivalentTo |
Terminal osseous dysplasia-pigmentary defects syndrome |
|
|
MONDO:0861565 |
vacuolar myopathy with sarcoplasmic reticulum protein aggregates |
GARD:16770 |
MONDO:equivalentTo |
Vacuolar myopathy with sarcoplasmic reticulum protein aggregates |
|
|
MONDO:0861566 |
hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome |
GARD:16771 |
MONDO:equivalentTo |
Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome |
|
|
MONDO:0861567 |
autosomal dominant progressive nephropathy with hypertension |
GARD:16772 |
MONDO:equivalentTo |
Autosomal dominant progressive nephropathy with hypertension |
|
|
MONDO:0861568 |
hepatocellular carcinoma |
GARD:16773 |
MONDO:equivalentTo |
Hepatocellular carcinoma |
|
|
MONDO:0861569 |
x-linked alport syndrome |
GARD:16774 |
MONDO:equivalentTo |
X-linked Alport syndrome |
|
|
MONDO:0861570 |
pseudohypoaldosteronism type 2a |
GARD:16775 |
MONDO:equivalentTo |
Pseudohypoaldosteronism type 2A |
|
|
MONDO:0861571 |
pseudohypoaldosteronism type 2b |
GARD:16776 |
MONDO:equivalentTo |
Pseudohypoaldosteronism type 2B |
|
|
MONDO:0861572 |
pseudohypoaldosteronism type 2c |
GARD:16777 |
MONDO:equivalentTo |
Pseudohypoaldosteronism type 2C |
|
|
MONDO:0861573 |
autosomal recessive generalized epidermolysis bullosa simplex |
GARD:16778 |
MONDO:equivalentTo |
Autosomal recessive generalized epidermolysis bullosa simplex |
|
|
MONDO:0861574 |
dystrophic epidermolysis bullosa pruriginosa |
GARD:16779 |
MONDO:equivalentTo |
Dystrophic epidermolysis bullosa pruriginosa |
|
|
MONDO:0861575 |
lissencephaly syndrome, norman-roberts type |
GARD:16780 |
MONDO:equivalentTo |
Lissencephaly syndrome, Norman-Roberts type |
|
|
MONDO:0861576 |
autosomal dominant hypophosphatemic rickets |
GARD:16781 |
MONDO:equivalentTo |
Autosomal dominant hypophosphatemic rickets |
|
|
MONDO:0861577 |
x-linked cone dysfunction syndrome with myopia |
GARD:16782 |
MONDO:equivalentTo |
X-linked cone dysfunction syndrome with myopia |
|
|
MONDO:0861578 |
primary immunodeficiency syndrome due to lamtor2 deficiency |
GARD:16783 |
MONDO:equivalentTo |
Primary immunodeficiency syndrome due to LAMTOR2 deficiency |
|
|
MONDO:0861579 |
hemolytic anemia due to glutathione reductase deficiency |
GARD:16784 |
MONDO:equivalentTo |
Hemolytic anemia due to glutathione reductase deficiency |
|
|
MONDO:0861580 |
familial pseudohyperkalemia |
GARD:16785 |
MONDO:equivalentTo |
Familial pseudohyperkalemia |
|
|
MONDO:0861581 |
charcot-marie-tooth disease-deafness-intellectual disability syndrome |
GARD:16786 |
MONDO:equivalentTo |
Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome |
|
|
MONDO:0861582 |
hereditary motor and sensory neuropathy type 6 |
GARD:16787 |
MONDO:equivalentTo |
Hereditary motor and sensory neuropathy type 6 |
|
|
MONDO:0861583 |
klippel-trénaunay syndrome |
GARD:16788 |
MONDO:equivalentTo |
Klippel-Trénaunay syndrome |
|
|
MONDO:0861584 |
hypotrichosis simplex of the scalp |
GARD:16789 |
MONDO:equivalentTo |
Hypotrichosis simplex of the scalp |
|
|
MONDO:0861585 |
x-linked non-syndromic sensorineural deafness type dfn |
GARD:16790 |
MONDO:equivalentTo |
X-linked non-syndromic sensorineural deafness type DFN |
|
|
MONDO:0861586 |
autosomal dominant non-syndromic sensorineural deafness type dfna |
GARD:16791 |
MONDO:equivalentTo |
Autosomal dominant non-syndromic sensorineural deafness type DFNA |
|
|
MONDO:0861587 |
mitochondrial non-syndromic sensorineural deafness |
GARD:16792 |
MONDO:equivalentTo |
Mitochondrial non-syndromic sensorineural deafness |
|
|
MONDO:0861588 |
hypothyroidism due to tsh receptor mutations |
GARD:16793 |
MONDO:equivalentTo |
Hypothyroidism due to TSH receptor mutations |
|
|
MONDO:0861589 |
46,xy disorder of sex development due to isolated 17,20-lyase deficiency |
GARD:16794 |
MONDO:equivalentTo |
46,XY disorder of sex development due to isolated 17,20-lyase deficiency |
|
|
MONDO:0861590 |
cardiomyopathy-hypotonia-lactic acidosis syndrome |
GARD:16795 |
MONDO:equivalentTo |
Cardiomyopathy-hypotonia-lactic acidosis syndrome |
|
|
MONDO:0861591 |
body skin hyperlaxity due to vitamin k-dependent coagulation factor deficiency |
GARD:16796 |
MONDO:equivalentTo |
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency |
|
|
MONDO:0861592 |
isolated cryptophthalmia |
GARD:16797 |
MONDO:equivalentTo |
Isolated cryptophthalmia |
|
|
MONDO:0861593 |
congenital ptosis |
GARD:16798 |
MONDO:equivalentTo |
Congenital ptosis |
|
|
MONDO:0861594 |
isolated congenital alacrima |
GARD:16799 |
MONDO:equivalentTo |
Isolated congenital alacrima |
|
|
MONDO:0861595 |
symbrachydactyly of hands and feet |
GARD:1680 |
MONDO:equivalentTo |
Symbrachydactyly of hands and feet |
|
|
MONDO:0861596 |
isolated congenital sclerocornea |
GARD:16800 |
MONDO:equivalentTo |
Isolated congenital sclerocornea |
|
|
MONDO:0861597 |
early-onset non-syndromic cataract |
GARD:16801 |
MONDO:equivalentTo |
Early-onset non-syndromic cataract |
|
|
MONDO:0861598 |
macular coloboma-cleft palate-hallux valgus syndrome |
GARD:16802 |
MONDO:equivalentTo |
Macular coloboma-cleft palate-hallux valgus syndrome |
|
|
MONDO:0861599 |
persistent hyperplastic primary vitreous |
GARD:16803 |
MONDO:equivalentTo |
Persistent hyperplastic primary vitreous |
|
|
MONDO:0861600 |
renal agenesis, unilateral |
GARD:16804 |
MONDO:equivalentTo |
Renal agenesis, unilateral |
|
|
MONDO:0861601 |
hypocalcemic vitamin d-resistant rickets |
GARD:16805 |
MONDO:equivalentTo |
Hypocalcemic vitamin D-resistant rickets |
|
|
MONDO:0861602 |
fragile x-associated tremor/ataxia syndrome |
GARD:16806 |
MONDO:equivalentTo |
Fragile X-associated tremor/ataxia syndrome |
|
|
MONDO:0861603 |
pfeiffer syndrome type 1 |
GARD:16807 |
MONDO:equivalentTo |
Pfeiffer syndrome type 1 |
|
|
MONDO:0861604 |
pfeiffer syndrome type 2 |
GARD:16808 |
MONDO:equivalentTo |
Pfeiffer syndrome type 2 |
|
|
MONDO:0861605 |
pfeiffer syndrome type 3 |
GARD:16809 |
MONDO:equivalentTo |
Pfeiffer syndrome type 3 |
|
|
MONDO:0861606 |
crouzon syndrome-acanthosis nigricans syndrome |
GARD:16810 |
MONDO:equivalentTo |
Crouzon syndrome-acanthosis nigricans syndrome |
|
|
MONDO:0861607 |
cloverleaf skull-multiple congenital anomalies syndrome |
GARD:16811 |
MONDO:equivalentTo |
Cloverleaf skull-multiple congenital anomalies syndrome |
|
|
MONDO:0861608 |
mild spondyloepiphyseal dysplasia due to col2a1 mutation with early-onset osteoarthritis |
GARD:16812 |
MONDO:equivalentTo |
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis |
|
|
MONDO:0861609 |
spondyloepimetaphyseal dysplasia, papss2 type |
GARD:16813 |
MONDO:equivalentTo |
Spondyloepimetaphyseal dysplasia, PAPSS2 type |
|
|
MONDO:0861610 |
spondyloepiphyseal dysplasia, kimberley type |
GARD:16814 |
MONDO:equivalentTo |
Spondyloepiphyseal dysplasia, Kimberley type |
|
|
MONDO:0861611 |
hypochondrogenesis |
GARD:16815 |
MONDO:equivalentTo |
Hypochondrogenesis |
|
|
MONDO:0861612 |
brachyolmia, maroteaux type |
GARD:16816 |
MONDO:equivalentTo |
Brachyolmia, Maroteaux type |
|
|
MONDO:0861613 |
postaxial polydactyly type a |
GARD:16817 |
MONDO:equivalentTo |
Postaxial polydactyly type A |
|
|
MONDO:0861614 |
postaxial polydactyly type b |
GARD:16818 |
MONDO:equivalentTo |
Postaxial polydactyly type B |
|
|
MONDO:0861615 |
spondyloepimetaphyseal dysplasia, irapa type |
GARD:16819 |
MONDO:equivalentTo |
Spondyloepimetaphyseal dysplasia, Irapa type |
|
|
MONDO:0861616 |
genochondromatosis type 2 |
GARD:16820 |
MONDO:equivalentTo |
Genochondromatosis type 2 |
|
|
MONDO:0861617 |
brachydactyly-syndactyly, zhao type |
GARD:16821 |
MONDO:equivalentTo |
Brachydactyly-syndactyly, Zhao type |
|
|
MONDO:0861618 |
ciliopathies with major skeletal involvement |
GARD:16822 |
MONDO:equivalentTo |
Ciliopathies with major skeletal involvement |
|
|
MONDO:0861619 |
atypical hemolytic uremic syndrome with anti-factor h antibodies |
GARD:16823 |
MONDO:equivalentTo |
Atypical hemolytic uremic syndrome with anti-factor H antibodies |
|
|
MONDO:0861620 |
late-onset nephronophthisis |
GARD:16824 |
MONDO:equivalentTo |
Late-onset nephronophthisis |
|
|
MONDO:0861621 |
infantile nephronophthisis |
GARD:16825 |
MONDO:equivalentTo |
Infantile nephronophthisis |
|
|
MONDO:0861622 |
autosomal recessive proximal renal tubular acidosis |
GARD:16826 |
MONDO:equivalentTo |
Autosomal recessive proximal renal tubular acidosis |
|
|
MONDO:0861623 |
cystinuria type a |
GARD:16827 |
MONDO:equivalentTo |
Cystinuria type A |
|
|
MONDO:0861624 |
cystinuria type b |
GARD:16828 |
MONDO:equivalentTo |
Cystinuria type B |
|
|
MONDO:0861625 |
hemoglobin h disease |
GARD:16829 |
MONDO:equivalentTo |
Hemoglobin H disease |
|
|
MONDO:0861626 |
lobar holoprosencephaly |
GARD:16830 |
MONDO:equivalentTo |
Lobar holoprosencephaly |
|
|
MONDO:0861627 |
alobar holoprosencephaly |
GARD:16831 |
MONDO:equivalentTo |
Alobar holoprosencephaly |
|
|
MONDO:0861628 |
midline interhemispheric variant of holoprosencephaly |
GARD:16832 |
MONDO:equivalentTo |
Midline interhemispheric variant of holoprosencephaly |
|
|
MONDO:0861629 |
laryngotracheoesophageal cleft type 3 |
GARD:16833 |
MONDO:equivalentTo |
Laryngotracheoesophageal cleft type 3 |
|
|
MONDO:0861630 |
x-linked intellectual disability, hedera type |
GARD:16834 |
MONDO:equivalentTo |
X-linked intellectual disability, Hedera type |
|
|
MONDO:0861631 |
anotia |
GARD:16835 |
MONDO:equivalentTo |
Anotia |
|
|
MONDO:0861632 |
cerebellar ataxia, cayman type |
GARD:16836 |
MONDO:equivalentTo |
Cerebellar ataxia, Cayman type |
|
|
MONDO:0861633 |
anonychia congenita totalis |
GARD:16837 |
MONDO:equivalentTo |
Anonychia congenita totalis |
|
|
MONDO:0861634 |
lissencephaly due to lis1 mutation |
GARD:16838 |
MONDO:equivalentTo |
Lissencephaly due to LIS1 mutation |
|
|
MONDO:0861635 |
familial adrenal hypoplasia with absent pituitary luteinizing hormone |
GARD:16839 |
MONDO:equivalentTo |
Familial adrenal hypoplasia with absent pituitary luteinizing hormone |
|
|
MONDO:0861636 |
deafness-ear malformation-facial palsy syndrome |
GARD:1684 |
MONDO:equivalentTo |
Deafness-ear malformation-facial palsy syndrome |
|
|
MONDO:0861637 |
non-syndromic posterior hypospadias |
GARD:16840 |
MONDO:equivalentTo |
Non-syndromic posterior hypospadias |
|
|
MONDO:0861638 |
thyroid ectopia |
GARD:16841 |
MONDO:equivalentTo |
Thyroid ectopia |
|
|
MONDO:0861639 |
athyreosis |
GARD:16842 |
MONDO:equivalentTo |
Athyreosis |
|
|
MONDO:0861640 |
familial thyroid dyshormonogenesis |
GARD:16843 |
MONDO:equivalentTo |
Familial thyroid dyshormonogenesis |
|
|
MONDO:0861641 |
thyroid hemiagenesis |
GARD:16844 |
MONDO:equivalentTo |
Thyroid hemiagenesis |
|
|
MONDO:0861642 |
distal monosomy 6p |
GARD:16845 |
MONDO:equivalentTo |
Distal monosomy 6p |
|
|
MONDO:0861643 |
kleefstra syndrome due to 9q34 microdeletion |
GARD:16846 |
MONDO:equivalentTo |
Kleefstra syndrome due to 9q34 microdeletion |
|
|
MONDO:0861644 |
monosomy 13q34 |
GARD:16847 |
MONDO:equivalentTo |
Monosomy 13q34 |
|
|
MONDO:0861645 |
temple syndrome due to maternal uniparental disomy of chromosome 14 |
GARD:16848 |
MONDO:equivalentTo |
Temple syndrome due to maternal uniparental disomy of chromosome 14 |
|
|
MONDO:0861646 |
maternal uniparental disomy of chromosome 20 |
GARD:16849 |
MONDO:equivalentTo |
Maternal uniparental disomy of chromosome 20 |
|
|
MONDO:0861647 |
doors syndrome |
GARD:1685 |
MONDO:equivalentTo |
DOORS syndrome |
|
|
MONDO:0861648 |
somatotropic adenoma |
GARD:16850 |
MONDO:equivalentTo |
Somatotropic adenoma |
|
|
MONDO:0861649 |
leydig cell hypoplasia due to complete lh resistance |
GARD:16851 |
MONDO:equivalentTo |
Leydig cell hypoplasia due to complete LH resistance |
|
|
MONDO:0861650 |
leydig cell hypoplasia due to partial lh resistance |
GARD:16852 |
MONDO:equivalentTo |
Leydig cell hypoplasia due to partial LH resistance |
|
|
MONDO:0861651 |
familial papillary thyroid carcinoma with renal papillary neoplasia |
GARD:16853 |
MONDO:equivalentTo |
Familial papillary thyroid carcinoma with renal papillary neoplasia |
|
|
MONDO:0861652 |
renal tubular dysgenesis of genetic origin |
GARD:16854 |
MONDO:equivalentTo |
Renal tubular dysgenesis of genetic origin |
|
|
MONDO:0861653 |
lymphoproliferative disease associated with primary immune disease |
GARD:16855 |
MONDO:equivalentTo |
Lymphoproliferative disease associated with primary immune disease |
|
|
MONDO:0861654 |
hereditary combined deficiency of vitamin k-dependent clotting factors |
GARD:16856 |
MONDO:equivalentTo |
Hereditary combined deficiency of vitamin K-dependent clotting factors |
|
|
MONDO:0861655 |
developmental defect of the eye |
GARD:16857 |
MONDO:equivalentTo |
Developmental defect of the eye |
|
|
MONDO:0861656 |
syndromic orbital border hypoplasia |
GARD:16858 |
MONDO:equivalentTo |
Syndromic orbital border hypoplasia |
|
|
MONDO:0861657 |
rare isolated myopia |
GARD:16859 |
MONDO:equivalentTo |
Rare isolated myopia |
|
|
MONDO:0861658 |
deafness-craniofacial syndrome |
GARD:1686 |
MONDO:equivalentTo |
Deafness-craniofacial syndrome |
|
|
MONDO:0861659 |
autosomal recessive isolated optic atrophy |
GARD:16860 |
MONDO:equivalentTo |
Autosomal recessive isolated optic atrophy |
|
|
MONDO:0861660 |
prader-willi syndrome due to maternal uniparental disomy of chromosome 15 |
GARD:16861 |
MONDO:equivalentTo |
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 |
|
|
MONDO:0861661 |
alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 |
GARD:16862 |
MONDO:equivalentTo |
Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 |
|
|
MONDO:0861662 |
acute undifferentiated leukemia |
GARD:16863 |
MONDO:equivalentTo |
Acute undifferentiated leukemia |
|
|
MONDO:0861663 |
desquamative interstitial pneumonia |
GARD:16864 |
MONDO:equivalentTo |
Desquamative interstitial pneumonia |
|
|
MONDO:0861664 |
autosomal dominant emery-dreifuss muscular dystrophy |
GARD:16865 |
MONDO:equivalentTo |
Autosomal dominant Emery-Dreifuss muscular dystrophy |
|
|
MONDO:0861665 |
autosomal recessive emery-dreifuss muscular dystrophy |
GARD:16866 |
MONDO:equivalentTo |
Autosomal recessive Emery-Dreifuss muscular dystrophy |
|
|
MONDO:0861666 |
southeast asian ovalocytosis |
GARD:16867 |
MONDO:equivalentTo |
Southeast Asian ovalocytosis |
|
|
MONDO:0861667 |
bleeding diathesis due to integrin alpha2-beta1 deficiency |
GARD:16868 |
MONDO:equivalentTo |
Bleeding diathesis due to integrin alpha2-beta1 deficiency |
|
|
MONDO:0861668 |
congenital myopathy with excess of thin filaments |
GARD:16869 |
MONDO:equivalentTo |
Congenital myopathy with excess of thin filaments |
|
|
MONDO:0861669 |
deafness-enamel hypoplasia-nail defects syndrome |
GARD:1687 |
MONDO:equivalentTo |
Deafness-enamel hypoplasia-nail defects syndrome |
|
|
MONDO:0861670 |
desminopathy |
GARD:16870 |
MONDO:equivalentTo |
Desminopathy |
|
|
MONDO:0861671 |
distal myotilinopathy |
GARD:16871 |
MONDO:equivalentTo |
Distal myotilinopathy |
|
|
MONDO:0861672 |
synaptic congenital myasthenic syndromes |
GARD:16872 |
MONDO:equivalentTo |
Synaptic congenital myasthenic syndromes |
|
|
MONDO:0861673 |
acute inflammatory demyelinating polyradiculoneuropathy |
GARD:16873 |
MONDO:equivalentTo |
Acute inflammatory demyelinating polyradiculoneuropathy |
|
|
MONDO:0861674 |
huntington disease-like 2 |
GARD:16874 |
MONDO:equivalentTo |
Huntington disease-like 2 |
|
|
MONDO:0861675 |
coloboma of choroid and retina |
GARD:16875 |
MONDO:equivalentTo |
Coloboma of choroid and retina |
|
|
MONDO:0861676 |
complete cryptophthalmia |
GARD:16876 |
MONDO:equivalentTo |
Complete cryptophthalmia |
|
|
MONDO:0861677 |
lisch epithelial corneal dystrophy |
GARD:16877 |
MONDO:equivalentTo |
Lisch epithelial corneal dystrophy |
|
|
MONDO:0861678 |
subepithelial mucinous corneal dystrophy |
GARD:16878 |
MONDO:equivalentTo |
Subepithelial mucinous corneal dystrophy |
|
|
MONDO:0861679 |
fleck corneal dystrophy |
GARD:16879 |
MONDO:equivalentTo |
Fleck corneal dystrophy |
|
|
MONDO:0861680 |
deafness-epiphyseal dysplasia-short stature syndrome |
GARD:1688 |
MONDO:equivalentTo |
Deafness-epiphyseal dysplasia-short stature syndrome |
|
|
MONDO:0861681 |
posterior amorphous corneal dystrophy |
GARD:16880 |
MONDO:equivalentTo |
Posterior amorphous corneal dystrophy |
|
|
MONDO:0861682 |
central cloudy dystrophy of françois |
GARD:16881 |
MONDO:equivalentTo |
Central cloudy dystrophy of François |
|
|
MONDO:0861683 |
posterior polymorphous corneal dystrophy |
GARD:16882 |
MONDO:equivalentTo |
Posterior polymorphous corneal dystrophy |
|
|
MONDO:0861684 |
juvenile glaucoma |
GARD:16883 |
MONDO:equivalentTo |
Juvenile glaucoma |
|
|
MONDO:0861685 |
pulverulent cataract |
GARD:16884 |
MONDO:equivalentTo |
Pulverulent cataract |
|
|
MONDO:0861686 |
early-onset sutural cataract |
GARD:16885 |
MONDO:equivalentTo |
Early-onset sutural cataract |
|
|
MONDO:0861687 |
coralliform cataract |
GARD:16886 |
MONDO:equivalentTo |
Coralliform cataract |
|
|
MONDO:0861688 |
early-onset nuclear cataract |
GARD:16887 |
MONDO:equivalentTo |
Early-onset nuclear cataract |
|
|
MONDO:0861689 |
early-onset partial cataract |
GARD:16888 |
MONDO:equivalentTo |
Early-onset partial cataract |
|
|
MONDO:0861690 |
early-onset posterior polar cataract |
GARD:16889 |
MONDO:equivalentTo |
Early-onset posterior polar cataract |
|
|
MONDO:0861691 |
butterfly-shaped pigment dystrophy |
GARD:16890 |
MONDO:equivalentTo |
Butterfly-shaped pigment dystrophy |
|
|
MONDO:0861692 |
reticular dystrophy of the retinal pigment epithelium |
GARD:16891 |
MONDO:equivalentTo |
Reticular dystrophy of the retinal pigment epithelium |
|
|
MONDO:0861693 |
discrete fixed membranous subaortic stenosis |
GARD:16892 |
MONDO:equivalentTo |
Discrete fixed membranous subaortic stenosis |
|
|
MONDO:0861694 |
complete atrioventricular septal defect with ventricular hypoplasia |
GARD:16893 |
MONDO:equivalentTo |
Complete atrioventricular septal defect with ventricular hypoplasia |
|
|
MONDO:0861695 |
complete atrioventricular septal defect-tetralogy of fallot |
GARD:16894 |
MONDO:equivalentTo |
Complete atrioventricular septal defect-tetralogy of Fallot |
|
|
MONDO:0861696 |
interventricular septum aneurysm |
GARD:16895 |
MONDO:equivalentTo |
Interventricular septum aneurysm |
|
|
MONDO:0861697 |
congenital total pulmonary venous return anomaly |
GARD:16896 |
MONDO:equivalentTo |
Congenital total pulmonary venous return anomaly |
|
|
MONDO:0861698 |
6-phosphogluconate dehydrogenase deficiency |
GARD:16897 |
MONDO:equivalentTo |
6-phosphogluconate dehydrogenase deficiency |
|
|
MONDO:0861699 |
lymphedema-posterior choanal atresia syndrome |
GARD:16898 |
MONDO:equivalentTo |
Lymphedema-posterior choanal atresia syndrome |
|
|
MONDO:0861700 |
isolated distichiasis |
GARD:16899 |
MONDO:equivalentTo |
Isolated distichiasis |
|
|
MONDO:0861701 |
schneckenbecken dysplasia |
GARD:169 |
MONDO:equivalentTo |
Schneckenbecken dysplasia |
|
|
MONDO:0861702 |
kandori fleck retina |
GARD:16900 |
MONDO:equivalentTo |
Kandori fleck retina |
|
|
MONDO:0861703 |
familial medullary thyroid carcinoma |
GARD:16901 |
MONDO:equivalentTo |
Familial medullary thyroid carcinoma |
|
|
MONDO:0861704 |
metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria |
GARD:16902 |
MONDO:equivalentTo |
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria |
|
|
MONDO:0861705 |
fried's tooth and nail syndrome |
GARD:16903 |
MONDO:equivalentTo |
Fried's tooth and nail syndrome |
|
|
MONDO:0861706 |
myotonia fluctuans |
GARD:16904 |
MONDO:equivalentTo |
Myotonia fluctuans |
|
|
MONDO:0861707 |
myotonia permanens |
GARD:16905 |
MONDO:equivalentTo |
Myotonia permanens |
|
|
MONDO:0861708 |
acetazolamide-responsive myotonia |
GARD:16906 |
MONDO:equivalentTo |
Acetazolamide-responsive myotonia |
|
|
MONDO:0861709 |
cleft velum |
GARD:16907 |
MONDO:equivalentTo |
Cleft velum |
|
|
MONDO:0861710 |
oligodontia |
GARD:16908 |
MONDO:equivalentTo |
Oligodontia |
|
|
MONDO:0861711 |
haddad syndrome |
GARD:16909 |
MONDO:equivalentTo |
Haddad syndrome |
|
|
MONDO:0861712 |
deafness-hypogonadism syndrome |
GARD:1691 |
MONDO:equivalentTo |
Deafness-hypogonadism syndrome |
|
|
MONDO:0861713 |
oculootodental syndrome |
GARD:16910 |
MONDO:equivalentTo |
Oculootodental syndrome |
|
|
MONDO:0861714 |
peho-like syndrome |
GARD:16911 |
MONDO:equivalentTo |
PEHO-like syndrome |
|
|
MONDO:0861715 |
turcot syndrome with polyposis |
GARD:16912 |
MONDO:equivalentTo |
Turcot syndrome with polyposis |
|
|
MONDO:0861716 |
familial gestational hyperthyroidism |
GARD:16913 |
MONDO:equivalentTo |
Familial gestational hyperthyroidism |
|
|
MONDO:0861717 |
resistance to thyrotropin-releasing hormone syndrome |
GARD:16914 |
MONDO:equivalentTo |
Resistance to thyrotropin-releasing hormone syndrome |
|
|
MONDO:0861718 |
leukocyte adhesion deficiency type iii |
GARD:16915 |
MONDO:equivalentTo |
Leukocyte adhesion deficiency type III |
|
|
MONDO:0861719 |
genetic recurrent myoglobinuria |
GARD:16916 |
MONDO:equivalentTo |
Genetic recurrent myoglobinuria |
|
|
MONDO:0861720 |
autosomal dominant myoglobinuria |
GARD:16917 |
MONDO:equivalentTo |
Autosomal dominant myoglobinuria |
|
|
MONDO:0861721 |
ovarioleukodystrophy |
GARD:16918 |
MONDO:equivalentTo |
Ovarioleukodystrophy |
|
|
MONDO:0861722 |
cree leukoencephalopathy |
GARD:16919 |
MONDO:equivalentTo |
Cree leukoencephalopathy |
|
|
MONDO:0861723 |
precursor b-cell acute lymphoblastic leukemia |
GARD:16920 |
MONDO:equivalentTo |
Precursor B-cell acute lymphoblastic leukemia |
|
|
MONDO:0861724 |
spermatocytic seminoma |
GARD:16921 |
MONDO:equivalentTo |
Spermatocytic seminoma |
|
|
MONDO:0861725 |
thymoma |
GARD:16922 |
MONDO:equivalentTo |
Thymoma |
|
|
MONDO:0861726 |
familial isolated hyperparathyroidism |
GARD:16923 |
MONDO:equivalentTo |
Familial isolated hyperparathyroidism |
|
|
MONDO:0861727 |
pigeon-breeder lung disease |
GARD:16924 |
MONDO:equivalentTo |
Pigeon-breeder lung disease |
|
|
MONDO:0861728 |
autosomal dominant charcot-marie-tooth disease type 2a2 |
GARD:16925 |
MONDO:equivalentTo |
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 |
|
|
MONDO:0861729 |
atypical teratoid rhabdoid tumor |
GARD:16926 |
MONDO:equivalentTo |
Atypical teratoid rhabdoid tumor |
|
|
MONDO:0861730 |
adenocarcinoma of the esophagus |
GARD:16927 |
MONDO:equivalentTo |
Adenocarcinoma of the esophagus |
|
|
MONDO:0861731 |
complex regional pain syndrome type 1 |
GARD:16928 |
MONDO:equivalentTo |
Complex regional pain syndrome type 1 |
|
|
MONDO:0861732 |
abeta amyloidosis, dutch type |
GARD:16929 |
MONDO:equivalentTo |
ABeta amyloidosis, Dutch type |
|
|
MONDO:0861733 |
acys amyloidosis |
GARD:16930 |
MONDO:equivalentTo |
ACys amyloidosis |
|
|
MONDO:0861734 |
hypocalcified amelogenesis imperfecta |
GARD:16931 |
MONDO:equivalentTo |
Hypocalcified amelogenesis imperfecta |
|
|
MONDO:0861735 |
hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism |
GARD:16932 |
MONDO:equivalentTo |
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism |
|
|
MONDO:0861736 |
hereditary angioedema type 1 |
GARD:16933 |
MONDO:equivalentTo |
Hereditary angioedema type 1 |
|
|
MONDO:0861737 |
hereditary angioedema type 2 |
GARD:16934 |
MONDO:equivalentTo |
Hereditary angioedema type 2 |
|
|
MONDO:0861738 |
f12-related hereditary angioedema with normal c1inh |
GARD:16935 |
MONDO:equivalentTo |
F12-related hereditary angioedema with normal C1Inh |
|
|
MONDO:0861739 |
renin-angiotensin-aldosterone system-blocker-induced angioedema |
GARD:16936 |
MONDO:equivalentTo |
Renin-angiotensin-aldosterone system-blocker-induced angioedema |
|
|
MONDO:0861740 |
porphyria due to ala dehydratase deficiency |
GARD:16937 |
MONDO:equivalentTo |
Porphyria due to ALA dehydratase deficiency |
|
|
MONDO:0861741 |
bathing suit ichthyosis |
GARD:16938 |
MONDO:equivalentTo |
Bathing suit ichthyosis |
|
|
MONDO:0861742 |
autosomal recessive spastic paraplegia type 21 |
GARD:16939 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 21 |
|
|
MONDO:0861743 |
autosomal recessive spastic paraplegia type 27 |
GARD:16940 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 27 |
|
|
MONDO:0861744 |
autosomal recessive spastic paraplegia type 28 |
GARD:16941 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 28 |
|
|
MONDO:0861745 |
autosomal spastic paraplegia type 30 |
GARD:16942 |
MONDO:equivalentTo |
Autosomal spastic paraplegia type 30 |
|
|
MONDO:0861746 |
congenital stromal corneal dystrophy |
GARD:16943 |
MONDO:equivalentTo |
Congenital stromal corneal dystrophy |
|
|
MONDO:0861747 |
familial isolated congenital asplenia |
GARD:16944 |
MONDO:equivalentTo |
Familial isolated congenital asplenia |
|
|
MONDO:0861748 |
congenital sodium diarrhea |
GARD:16945 |
MONDO:equivalentTo |
Congenital sodium diarrhea |
|
|
MONDO:0861749 |
tropical pancreatitis |
GARD:16946 |
MONDO:equivalentTo |
Tropical pancreatitis |
|
|
MONDO:0861750 |
lung fibrosis-immunodeficiency-46,xx gonadal dysgenesis syndrome |
GARD:16947 |
MONDO:equivalentTo |
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome |
|
|
MONDO:0861751 |
hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome |
GARD:16948 |
MONDO:equivalentTo |
Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome |
|
|
MONDO:0861752 |
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
GARD:16949 |
MONDO:equivalentTo |
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
|
|
MONDO:0861753 |
lowe-kohn-cohen syndrome |
GARD:1695 |
MONDO:equivalentTo |
Lowe-Kohn-Cohen syndrome |
|
|
MONDO:0861754 |
hypotonia with lactic acidemia and hyperammonemia |
GARD:16950 |
MONDO:equivalentTo |
Hypotonia with lactic acidemia and hyperammonemia |
|
|
MONDO:0861755 |
choanal atresia |
GARD:16951 |
MONDO:equivalentTo |
Choanal atresia |
|
|
MONDO:0861756 |
17q11.2 microduplication syndrome |
GARD:16952 |
MONDO:equivalentTo |
17q11.2 microduplication syndrome |
|
|
MONDO:0861757 |
distal hereditary motor neuropathy type 1 |
GARD:16953 |
MONDO:equivalentTo |
Distal hereditary motor neuropathy type 1 |
|
|
MONDO:0861758 |
distal hereditary motor neuropathy type 2 |
GARD:16954 |
MONDO:equivalentTo |
Distal hereditary motor neuropathy type 2 |
|
|
MONDO:0861759 |
distal hereditary motor neuropathy type 5 |
GARD:16955 |
MONDO:equivalentTo |
Distal hereditary motor neuropathy type 5 |
|
|
MONDO:0861760 |
distal spinal muscular atrophy type 3 |
GARD:16956 |
MONDO:equivalentTo |
Distal spinal muscular atrophy type 3 |
|
|
MONDO:0861761 |
x-linked distal spinal muscular atrophy type 3 |
GARD:16957 |
MONDO:equivalentTo |
X-linked distal spinal muscular atrophy type 3 |
|
|
MONDO:0861762 |
hereditary sensory and autonomic neuropathy type 1b |
GARD:16958 |
MONDO:equivalentTo |
Hereditary sensory and autonomic neuropathy type 1B |
|
|
MONDO:0861763 |
mutilating hereditary sensory neuropathy with spastic paraplegia |
GARD:16959 |
MONDO:equivalentTo |
Mutilating hereditary sensory neuropathy with spastic paraplegia |
|
|
MONDO:0861764 |
isolated growth hormone deficiency type ii |
GARD:1696 |
MONDO:equivalentTo |
Isolated growth hormone deficiency type II |
|
|
MONDO:0861765 |
distal hereditary motor neuropathy type 7 |
GARD:16960 |
MONDO:equivalentTo |
Distal hereditary motor neuropathy type 7 |
|
|
MONDO:0861766 |
primary intraosseous venous malformation |
GARD:16961 |
MONDO:equivalentTo |
Primary intraosseous venous malformation |
|
|
MONDO:0861767 |
autosomal dominant slowed nerve conduction velocity |
GARD:16962 |
MONDO:equivalentTo |
Autosomal dominant slowed nerve conduction velocity |
|
|
MONDO:0861768 |
brachydactyly type b2 |
GARD:16963 |
MONDO:equivalentTo |
Brachydactyly type B2 |
|
|
MONDO:0861769 |
short stature due to primary acid-labile subunit deficiency |
GARD:16964 |
MONDO:equivalentTo |
Short stature due to primary acid-labile subunit deficiency |
|
|
MONDO:0861770 |
autosomal dominant macrothrombocytopenia |
GARD:16965 |
MONDO:equivalentTo |
Autosomal dominant macrothrombocytopenia |
|
|
MONDO:0861771 |
bilateral microtia-deafness-cleft palate syndrome |
GARD:16966 |
MONDO:equivalentTo |
Bilateral microtia-deafness-cleft palate syndrome |
|
|
MONDO:0861772 |
palmoplantar keratoderma, nagashima type |
GARD:16967 |
MONDO:equivalentTo |
Palmoplantar keratoderma, Nagashima type |
|
|
MONDO:0861773 |
second branchial cleft anomaly |
GARD:16968 |
MONDO:equivalentTo |
Second branchial cleft anomaly |
|
|
MONDO:0861774 |
external auditory canal aplasia/hypoplasia |
GARD:16969 |
MONDO:equivalentTo |
External auditory canal aplasia/hypoplasia |
|
|
MONDO:0861775 |
nasal dermoid cyst |
GARD:16970 |
MONDO:equivalentTo |
Nasal dermoid cyst |
|
|
MONDO:0861776 |
hemifacial hyperplasia |
GARD:16971 |
MONDO:equivalentTo |
Hemifacial hyperplasia |
|
|
MONDO:0861777 |
isolated congenital hypoglossia/aglossia |
GARD:16972 |
MONDO:equivalentTo |
Isolated congenital hypoglossia/aglossia |
|
|
MONDO:0861778 |
paramedian nasal cleft |
GARD:16973 |
MONDO:equivalentTo |
Paramedian nasal cleft |
|
|
MONDO:0861779 |
tessier number 4 facial cleft |
GARD:16974 |
MONDO:equivalentTo |
Tessier number 4 facial cleft |
|
|
MONDO:0861780 |
tessier number 7 facial cleft |
GARD:16975 |
MONDO:equivalentTo |
Tessier number 7 facial cleft |
|
|
MONDO:0861781 |
cleft lip and alveolus |
GARD:16976 |
MONDO:equivalentTo |
Cleft lip and alveolus |
|
|
MONDO:0861782 |
hereditary hypophosphatemic rickets with hypercalciuria |
GARD:16977 |
MONDO:equivalentTo |
Hereditary hypophosphatemic rickets with hypercalciuria |
|
|
MONDO:0861783 |
congenital or early infantile cach syndrome |
GARD:16978 |
MONDO:equivalentTo |
Congenital or early infantile CACH syndrome |
|
|
MONDO:0861784 |
late infantile cach syndrome |
GARD:16979 |
MONDO:equivalentTo |
Late infantile CACH syndrome |
|
|
MONDO:0861785 |
deafness-oligodontia syndrome |
GARD:1698 |
MONDO:equivalentTo |
Deafness-oligodontia syndrome |
|
|
MONDO:0861786 |
juvenile or adult cach syndrome |
GARD:16980 |
MONDO:equivalentTo |
Juvenile or adult CACH syndrome |
|
|
MONDO:0861787 |
hereditary mixed polyposis syndrome |
GARD:16981 |
MONDO:equivalentTo |
Hereditary mixed polyposis syndrome |
|
|
MONDO:0861788 |
serrated polyposis syndrome |
GARD:16982 |
MONDO:equivalentTo |
Serrated polyposis syndrome |
|
|
MONDO:0861789 |
cold-induced sweating syndrome |
GARD:16983 |
MONDO:equivalentTo |
Cold-induced sweating syndrome |
|
|
MONDO:0861790 |
craniorhiny |
GARD:16984 |
MONDO:equivalentTo |
Craniorhiny |
|
|
MONDO:0861791 |
huntington disease-like 1 |
GARD:16985 |
MONDO:equivalentTo |
Huntington disease-like 1 |
|
|
MONDO:0861792 |
huntington disease-like 3 |
GARD:16986 |
MONDO:equivalentTo |
Huntington disease-like 3 |
|
|
MONDO:0861793 |
ane syndrome |
GARD:16987 |
MONDO:equivalentTo |
ANE syndrome |
|
|
MONDO:0861794 |
oculoauricular syndrome, schorderet type |
GARD:16988 |
MONDO:equivalentTo |
Oculoauricular syndrome, Schorderet type |
|
|
MONDO:0861795 |
hereditary progressive mucinous histiocytosis |
GARD:16989 |
MONDO:equivalentTo |
Hereditary progressive mucinous histiocytosis |
|
|
MONDO:0861796 |
epidermolysis bullosa simplex with circinate migratory erythema |
GARD:16990 |
MONDO:equivalentTo |
Epidermolysis bullosa simplex with circinate migratory erythema |
|
|
MONDO:0861797 |
epidermolysis bullosa simplex with pyloric atresia |
GARD:16991 |
MONDO:equivalentTo |
Epidermolysis bullosa simplex with pyloric atresia |
|
|
MONDO:0861798 |
hb bart's hydrops fetalis |
GARD:16992 |
MONDO:equivalentTo |
Hb Bart's hydrops fetalis |
|
|
MONDO:0861799 |
spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome |
GARD:16993 |
MONDO:equivalentTo |
Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome |
|
|
MONDO:0861800 |
spondyloepiphyseal dysplasia, reardon type |
GARD:16994 |
MONDO:equivalentTo |
Spondyloepiphyseal dysplasia, Reardon type |
|
|
MONDO:0861801 |
spondyloepiphyseal dysplasia tarda, kohn type |
GARD:16995 |
MONDO:equivalentTo |
Spondyloepiphyseal dysplasia tarda, Kohn type |
|
|
MONDO:0861802 |
spondyloepiphyseal dysplasia, macdermot type |
GARD:16996 |
MONDO:equivalentTo |
Spondyloepiphyseal dysplasia, MacDermot type |
|
|
MONDO:0861803 |
cntnap2-related developmental and epileptic encephalopathy |
GARD:16997 |
MONDO:equivalentTo |
CNTNAP2-related developmental and epileptic encephalopathy |
|
|
MONDO:0861804 |
hypotonia-cystinuria syndrome |
GARD:16998 |
MONDO:equivalentTo |
Hypotonia-cystinuria syndrome |
|
|
MONDO:0861805 |
2p21 microdeletion syndrome |
GARD:16999 |
MONDO:equivalentTo |
2p21 microdeletion syndrome |
|
|
MONDO:0861806 |
arachnoid cyst |
GARD:17 |
MONDO:equivalentTo |
Arachnoid cyst |
|
|
MONDO:0861807 |
action myoclonus-renal failure syndrome |
GARD:17000 |
MONDO:equivalentTo |
Action myoclonus-renal failure syndrome |
|
|
MONDO:0861808 |
benign familial mesial temporal lobe epilepsy |
GARD:17001 |
MONDO:equivalentTo |
Benign familial mesial temporal lobe epilepsy |
|
|
MONDO:0861809 |
rolandic epilepsy-speech dyspraxia syndrome |
GARD:17002 |
MONDO:equivalentTo |
Rolandic epilepsy-speech dyspraxia syndrome |
|
|
MONDO:0861810 |
rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome |
GARD:17003 |
MONDO:equivalentTo |
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome |
|
|
MONDO:0861811 |
peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-waardenburg syndrome-hirschsprung disease |
GARD:17004 |
MONDO:equivalentTo |
Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease |
|
|
MONDO:0861812 |
x-linked intellectual disability, nascimento type |
GARD:17005 |
MONDO:equivalentTo |
X-linked intellectual disability, Nascimento type |
|
|
MONDO:0861813 |
x-linked cerebral-cerebellar-coloboma syndrome |
GARD:17006 |
MONDO:equivalentTo |
X-linked cerebral-cerebellar-coloboma syndrome |
|
|
MONDO:0861814 |
x-linked dominant chondrodysplasia, chassaing-lacombe type |
GARD:17007 |
MONDO:equivalentTo |
X-linked dominant chondrodysplasia, Chassaing-Lacombe type |
|
|
MONDO:0861815 |
x-linked intellectual disability, van esch type |
GARD:17008 |
MONDO:equivalentTo |
X-linked intellectual disability, Van Esch type |
|
|
MONDO:0861816 |
x-linked intellectual disability-craniofacioskeletal syndrome |
GARD:17009 |
MONDO:equivalentTo |
X-linked intellectual disability-craniofacioskeletal syndrome |
|
|
MONDO:0861817 |
hyperekplexia-epilepsy syndrome |
GARD:17010 |
MONDO:equivalentTo |
Hyperekplexia-epilepsy syndrome |
|
|
MONDO:0861818 |
familial mesial temporal lobe epilepsy with febrile seizures |
GARD:17011 |
MONDO:equivalentTo |
Familial mesial temporal lobe epilepsy with febrile seizures |
|
|
MONDO:0861819 |
multiple epiphyseal dysplasia, beighton type |
GARD:17012 |
MONDO:equivalentTo |
Multiple epiphyseal dysplasia, Beighton type |
|
|
MONDO:0861820 |
multiple epiphyseal dysplasia, lowry type |
GARD:17013 |
MONDO:equivalentTo |
Multiple epiphyseal dysplasia, Lowry type |
|
|
MONDO:0861821 |
multiple epiphyseal dysplasia, al-gazali type |
GARD:17014 |
MONDO:equivalentTo |
Multiple epiphyseal dysplasia, Al-Gazali type |
|
|
MONDO:0861822 |
multiple epiphyseal dysplasia, with severe proximal femoral dysplasia |
GARD:17015 |
MONDO:equivalentTo |
Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia |
|
|
MONDO:0861823 |
multiple epiphyseal dysplasia, with miniepiphyses |
GARD:17016 |
MONDO:equivalentTo |
Multiple epiphyseal dysplasia, with miniepiphyses |
|
|
MONDO:0861824 |
brachydactyly-short stature-retinitis pigmentosa syndrome |
GARD:17017 |
MONDO:equivalentTo |
Brachydactyly-short stature-retinitis pigmentosa syndrome |
|
|
MONDO:0861825 |
metaphyseal chondrodysplasia, kaitila type |
GARD:17018 |
MONDO:equivalentTo |
Metaphyseal chondrodysplasia, Kaitila type |
|
|
MONDO:0861826 |
von willebrand disease type 1 |
GARD:17019 |
MONDO:equivalentTo |
Von Willebrand disease type 1 |
|
|
MONDO:0861827 |
von willebrand disease type 2 |
GARD:17020 |
MONDO:equivalentTo |
Von Willebrand disease type 2 |
|
|
MONDO:0861828 |
von willebrand disease type 2a |
GARD:17021 |
MONDO:equivalentTo |
Von Willebrand disease type 2A |
|
|
MONDO:0861829 |
von willebrand disease type 2b |
GARD:17022 |
MONDO:equivalentTo |
Von Willebrand disease type 2B |
|
|
MONDO:0861830 |
von willebrand disease type 2m |
GARD:17023 |
MONDO:equivalentTo |
Von Willebrand disease type 2M |
|
|
MONDO:0861831 |
von willebrand disease type 2n |
GARD:17024 |
MONDO:equivalentTo |
Von Willebrand disease type 2N |
|
|
MONDO:0861832 |
von willebrand disease type 3 |
GARD:17025 |
MONDO:equivalentTo |
Von Willebrand disease type 3 |
|
|
MONDO:0861833 |
fastkd2-related infantile mitochondrial encephalomyopathy |
GARD:17026 |
MONDO:equivalentTo |
FASTKD2-related infantile mitochondrial encephalomyopathy |
|
|
MONDO:0861834 |
isolated osteopoikilosis |
GARD:17027 |
MONDO:equivalentTo |
Isolated osteopoikilosis |
|
|
MONDO:0861835 |
hot water reflex epilepsy |
GARD:17028 |
MONDO:equivalentTo |
Hot water reflex epilepsy |
|
|
MONDO:0861836 |
reading seizures |
GARD:17029 |
MONDO:equivalentTo |
Reading seizures |
|
|
MONDO:0861837 |
spondyloepimetaphyseal dysplasia-abnormal dentition syndrome |
GARD:17030 |
MONDO:equivalentTo |
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome |
|
|
MONDO:0861838 |
congenital neuronal ceroid lipofuscinosis |
GARD:17031 |
MONDO:equivalentTo |
Congenital neuronal ceroid lipofuscinosis |
|
|
MONDO:0861839 |
late infantile neuronal ceroid lipofuscinosis |
GARD:17032 |
MONDO:equivalentTo |
Late infantile neuronal ceroid lipofuscinosis |
|
|
MONDO:0861840 |
46,xy disorder of sex development-adrenal insufficiency due to cyp11a1 deficiency |
GARD:17033 |
MONDO:equivalentTo |
46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency |
|
|
MONDO:0861841 |
46,xy gonadal dysgenesis-motor and sensory neuropathy syndrome |
GARD:17034 |
MONDO:equivalentTo |
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome |
|
|
MONDO:0861842 |
fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 |
GARD:17035 |
MONDO:equivalentTo |
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 |
|
|
MONDO:0861843 |
hereditary cryohydrocytosis with reduced stomatin |
GARD:17036 |
MONDO:equivalentTo |
Hereditary cryohydrocytosis with reduced stomatin |
|
|
MONDO:0861844 |
hereditary north american indian childhood cirrhosis |
GARD:17037 |
MONDO:equivalentTo |
Hereditary North American Indian childhood cirrhosis |
|
|
MONDO:0861845 |
congenital enteropathy due to enteropeptidase deficiency |
GARD:17038 |
MONDO:equivalentTo |
Congenital enteropathy due to enteropeptidase deficiency |
|
|
MONDO:0861846 |
seborrhea-like dermatitis with psoriasiform elements |
GARD:17039 |
MONDO:equivalentTo |
Seborrhea-like dermatitis with psoriasiform elements |
|
|
MONDO:0861847 |
congenital deficiency in alpha-fetoprotein |
GARD:17040 |
MONDO:equivalentTo |
Congenital deficiency in alpha-fetoprotein |
|
|
MONDO:0861848 |
autosomal thrombocytopenia with normal platelets |
GARD:17041 |
MONDO:equivalentTo |
Autosomal thrombocytopenia with normal platelets |
|
|
MONDO:0861849 |
generalized basaloid follicular hamartoma syndrome |
GARD:17042 |
MONDO:equivalentTo |
Generalized basaloid follicular hamartoma syndrome |
|
|
MONDO:0861850 |
myeloid/lymphoid neoplasm associated with fgfr1 rearrangement |
GARD:17043 |
MONDO:equivalentTo |
Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement |
|
|
MONDO:0861851 |
clapo syndrome |
GARD:17044 |
MONDO:equivalentTo |
CLAPO syndrome |
|
|
MONDO:0861852 |
cernunnos-xlf deficiency |
GARD:17045 |
MONDO:equivalentTo |
Cernunnos-XLF deficiency |
|
|
MONDO:0861853 |
combined immunodeficiency due to cd3gamma deficiency |
GARD:17046 |
MONDO:equivalentTo |
Combined immunodeficiency due to CD3gamma deficiency |
|
|
MONDO:0861854 |
susceptibility to respiratory infections associated with cd8alpha chain mutation |
GARD:17047 |
MONDO:equivalentTo |
Susceptibility to respiratory infections associated with CD8alpha chain mutation |
|
|
MONDO:0861855 |
combined immunodeficiency due to crac channel dysfunction |
GARD:17048 |
MONDO:equivalentTo |
Combined immunodeficiency due to CRAC channel dysfunction |
|
|
MONDO:0861856 |
immunodeficiency due to cd25 deficiency |
GARD:17049 |
MONDO:equivalentTo |
Immunodeficiency due to CD25 deficiency |
|
|
MONDO:0861857 |
deafness-vitiligo-achalasia syndrome |
GARD:1705 |
MONDO:equivalentTo |
Deafness-vitiligo-achalasia syndrome |
|
|
MONDO:0861858 |
immunodeficiency due to a late component of complement deficiency |
GARD:17050 |
MONDO:equivalentTo |
Immunodeficiency due to a late component of complement deficiency |
|
|
MONDO:0861859 |
t-b+ severe combined immunodeficiency due to il-7ralpha deficiency |
GARD:17051 |
MONDO:equivalentTo |
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency |
|
|
MONDO:0861860 |
t-b+ severe combined immunodeficiency due to cd45 deficiency |
GARD:17052 |
MONDO:equivalentTo |
T-B+ severe combined immunodeficiency due to CD45 deficiency |
|
|
MONDO:0861861 |
t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta |
GARD:17053 |
MONDO:equivalentTo |
T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta |
|
|
MONDO:0861862 |
primary cd59 deficiency |
GARD:17054 |
MONDO:equivalentTo |
Primary CD59 deficiency |
|
|
MONDO:0861863 |
recurrent neisseria infections due to factor d deficiency |
GARD:17055 |
MONDO:equivalentTo |
Recurrent Neisseria infections due to factor D deficiency |
|
|
MONDO:0861864 |
severe hemophilia b |
GARD:17056 |
MONDO:equivalentTo |
Severe hemophilia B |
|
|
MONDO:0861865 |
moderate hemophilia b |
GARD:17057 |
MONDO:equivalentTo |
Moderate hemophilia B |
|
|
MONDO:0861866 |
mild hemophilia b |
GARD:17058 |
MONDO:equivalentTo |
Mild hemophilia B |
|
|
MONDO:0861867 |
severe hemophilia a |
GARD:17059 |
MONDO:equivalentTo |
Severe hemophilia A |
|
|
MONDO:0861868 |
moderate hemophilia a |
GARD:17060 |
MONDO:equivalentTo |
Moderate hemophilia A |
|
|
MONDO:0861869 |
mild hemophilia a |
GARD:17061 |
MONDO:equivalentTo |
Mild hemophilia A |
|
|
MONDO:0861870 |
muscle filaminopathy |
GARD:17062 |
MONDO:equivalentTo |
Muscle filaminopathy |
|
|
MONDO:0861871 |
x-linked spastic paraplegia type 34 |
GARD:17063 |
MONDO:equivalentTo |
X-linked spastic paraplegia type 34 |
|
|
MONDO:0861872 |
autosomal dominant spastic paraplegia type 37 |
GARD:17064 |
MONDO:equivalentTo |
Autosomal dominant spastic paraplegia type 37 |
|
|
MONDO:0861873 |
autosomal dominant spastic paraplegia type 38 |
GARD:17065 |
MONDO:equivalentTo |
Autosomal dominant spastic paraplegia type 38 |
|
|
MONDO:0861874 |
lissencephaly due to tuba1a mutation |
GARD:17066 |
MONDO:equivalentTo |
Lissencephaly due to TUBA1A mutation |
|
|
MONDO:0861875 |
metabolic myopathy due to lactate transporter defect |
GARD:17067 |
MONDO:equivalentTo |
Metabolic myopathy due to lactate transporter defect |
|
|
MONDO:0861876 |
short stature-delayed bone age due to thyroid hormone metabolism deficiency |
GARD:17068 |
MONDO:equivalentTo |
Short stature-delayed bone age due to thyroid hormone metabolism deficiency |
|
|
MONDO:0861877 |
cutis laxa-marfanoid syndrome |
GARD:17069 |
MONDO:equivalentTo |
Cutis laxa-Marfanoid syndrome |
|
|
MONDO:0861878 |
blindness-scoliosis-arachnodactyly syndrome |
GARD:17070 |
MONDO:equivalentTo |
Blindness-scoliosis-arachnodactyly syndrome |
|
|
MONDO:0861879 |
polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome |
GARD:17071 |
MONDO:equivalentTo |
Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome |
|
|
MONDO:0861880 |
mednik syndrome |
GARD:17072 |
MONDO:equivalentTo |
MEDNIK syndrome |
|
|
MONDO:0861881 |
autosomal dominant spastic paraplegia type 42 |
GARD:17073 |
MONDO:equivalentTo |
Autosomal dominant spastic paraplegia type 42 |
|
|
MONDO:0861882 |
prader-willi syndrome due to translocation |
GARD:17074 |
MONDO:equivalentTo |
Prader-Willi syndrome due to translocation |
|
|
MONDO:0861883 |
prader-willi syndrome due to imprinting mutation |
GARD:17075 |
MONDO:equivalentTo |
Prader-Willi syndrome due to imprinting mutation |
|
|
MONDO:0861884 |
bleeding disorder in hemophilia a carriers |
GARD:17076 |
MONDO:equivalentTo |
Bleeding disorder in hemophilia A carriers |
|
|
MONDO:0861885 |
bleeding disorder in hemophilia b carriers |
GARD:17077 |
MONDO:equivalentTo |
Bleeding disorder in hemophilia B carriers |
|
|
MONDO:0861886 |
moderate multiminicore disease with hand involvement |
GARD:17078 |
MONDO:equivalentTo |
Moderate multiminicore disease with hand involvement |
|
|
MONDO:0861887 |
reticulate acropigmentation of kitamura |
GARD:17079 |
MONDO:equivalentTo |
Reticulate acropigmentation of Kitamura |
|
|
MONDO:0861888 |
distal myopathy with anterior tibial onset |
GARD:17080 |
MONDO:equivalentTo |
Distal myopathy with anterior tibial onset |
|
|
MONDO:0861889 |
x-linked myopathy with postural muscle atrophy |
GARD:17081 |
MONDO:equivalentTo |
X-linked myopathy with postural muscle atrophy |
|
|
MONDO:0861890 |
brain calcification, rajab type |
GARD:17082 |
MONDO:equivalentTo |
Brain calcification, Rajab type |
|
|
MONDO:0861891 |
obesity due to leptin receptor gene deficiency |
GARD:17083 |
MONDO:equivalentTo |
Obesity due to leptin receptor gene deficiency |
|
|
MONDO:0861892 |
hyper-igm syndrome with susceptibility to opportunistic infections |
GARD:17084 |
MONDO:equivalentTo |
Hyper-IgM syndrome with susceptibility to opportunistic infections |
|
|
MONDO:0861893 |
hyper-igm syndrome without susceptibility to opportunistic infections |
GARD:17085 |
MONDO:equivalentTo |
Hyper-IgM syndrome without susceptibility to opportunistic infections |
|
|
MONDO:0861894 |
recurrent infections associated with rare immunoglobulin isotypes deficiency |
GARD:17086 |
MONDO:equivalentTo |
Recurrent infections associated with rare immunoglobulin isotypes deficiency |
|
|
MONDO:0861895 |
neutrophil immunodeficiency syndrome |
GARD:17087 |
MONDO:equivalentTo |
Neutrophil immunodeficiency syndrome |
|
|
MONDO:0861896 |
familial isolated hypoparathyroidism due to impaired pth secretion |
GARD:17088 |
MONDO:equivalentTo |
Familial isolated hypoparathyroidism due to impaired PTH secretion |
|
|
MONDO:0861897 |
familial angiolipomatosis |
GARD:17089 |
MONDO:equivalentTo |
Familial angiolipomatosis |
|
|
MONDO:0861898 |
hereditary hypercarotenemia and vitamin a deficiency |
GARD:17090 |
MONDO:equivalentTo |
Hereditary hypercarotenemia and vitamin A deficiency |
|
|
MONDO:0861899 |
isolated cleft lip |
GARD:17091 |
MONDO:equivalentTo |
Isolated cleft lip |
|
|
MONDO:0861900 |
cleft lip/palate |
GARD:17092 |
MONDO:equivalentTo |
Cleft lip/palate |
|
|
MONDO:0861901 |
familial clubfoot with or without associated lower limb anomalies |
GARD:17093 |
MONDO:equivalentTo |
Familial clubfoot with or without associated lower limb anomalies |
|
|
MONDO:0861902 |
endocrine-cerebro-osteodysplasia syndrome |
GARD:17094 |
MONDO:equivalentTo |
Endocrine-cerebro-osteodysplasia syndrome |
|
|
MONDO:0861903 |
pancreatic insufficiency-anemia-hyperostosis syndrome |
GARD:17095 |
MONDO:equivalentTo |
Pancreatic insufficiency-anemia-hyperostosis syndrome |
|
|
MONDO:0861904 |
muscular dystrophy, selcen type |
GARD:17096 |
MONDO:equivalentTo |
Muscular dystrophy, Selcen type |
|
|
MONDO:0861905 |
thiamine-responsive encephalopathy |
GARD:17097 |
MONDO:equivalentTo |
Thiamine-responsive encephalopathy |
|
|
MONDO:0861906 |
immunodeficiency with factor i anomaly |
GARD:17098 |
MONDO:equivalentTo |
Immunodeficiency with factor I anomaly |
|
|
MONDO:0861907 |
immunodeficiency with factor h anomaly |
GARD:17099 |
MONDO:equivalentTo |
Immunodeficiency with factor H anomaly |
|
|
MONDO:0861908 |
gonadoblastoma |
GARD:17100 |
MONDO:equivalentTo |
Gonadoblastoma |
|
|
MONDO:0861909 |
autosomal recessive lower motor neuron disease with childhood onset |
GARD:17101 |
MONDO:equivalentTo |
Autosomal recessive lower motor neuron disease with childhood onset |
|
|
MONDO:0861910 |
autosomal dominant adult-onset proximal spinal muscular atrophy |
GARD:17102 |
MONDO:equivalentTo |
Autosomal dominant adult-onset proximal spinal muscular atrophy |
|
|
MONDO:0861911 |
severe neonatal-onset encephalopathy with microcephaly |
GARD:17103 |
MONDO:equivalentTo |
Severe neonatal-onset encephalopathy with microcephaly |
|
|
MONDO:0861912 |
autosomal dominant rhegmatogenous retinal detachment |
GARD:17104 |
MONDO:equivalentTo |
Autosomal dominant rhegmatogenous retinal detachment |
|
|
MONDO:0861913 |
extraskeletal myxoid chondrosarcoma |
GARD:17105 |
MONDO:equivalentTo |
Extraskeletal myxoid chondrosarcoma |
|
|
MONDO:0861914 |
idiopathic copper-associated cirrhosis |
GARD:17106 |
MONDO:equivalentTo |
Idiopathic copper-associated cirrhosis |
|
|
MONDO:0861915 |
episodic ataxia type 6 |
GARD:17107 |
MONDO:equivalentTo |
Episodic ataxia type 6 |
|
|
MONDO:0861916 |
episodic ataxia type 7 |
GARD:17108 |
MONDO:equivalentTo |
Episodic ataxia type 7 |
|
|
MONDO:0861917 |
inherited congenital spastic tetraplegia |
GARD:17109 |
MONDO:equivalentTo |
Inherited congenital spastic tetraplegia |
|
|
MONDO:0861918 |
lethal polymalformative syndrome, boissel type |
GARD:17110 |
MONDO:equivalentTo |
Lethal polymalformative syndrome, Boissel type |
|
|
MONDO:0861919 |
congenital lethal myopathy, compton-north type |
GARD:17111 |
MONDO:equivalentTo |
Congenital lethal myopathy, Compton-North type |
|
|
MONDO:0861920 |
macrocephaly-intellectual disability-autism syndrome |
GARD:17112 |
MONDO:equivalentTo |
Macrocephaly-intellectual disability-autism syndrome |
|
|
MONDO:0861921 |
episodic ataxia type 5 |
GARD:17113 |
MONDO:equivalentTo |
Episodic ataxia type 5 |
|
|
MONDO:0861922 |
classic pantothenate kinase-associated neurodegeneration |
GARD:17114 |
MONDO:equivalentTo |
Classic pantothenate kinase-associated neurodegeneration |
|
|
MONDO:0861923 |
atypical pantothenate kinase-associated neurodegeneration |
GARD:17115 |
MONDO:equivalentTo |
Atypical pantothenate kinase-associated neurodegeneration |
|
|
MONDO:0861924 |
microcephaly-facio-cardio-skeletal syndrome, hadziselimovic type |
GARD:17116 |
MONDO:equivalentTo |
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type |
|
|
MONDO:0861925 |
isolated congenital digital clubbing |
GARD:17117 |
MONDO:equivalentTo |
Isolated congenital digital clubbing |
|
|
MONDO:0861926 |
mucopolysaccharidosis type 2, severe form |
GARD:17118 |
MONDO:equivalentTo |
Mucopolysaccharidosis type 2, severe form |
|
|
MONDO:0861927 |
mucopolysaccharidosis type 2, attenuated form |
GARD:17119 |
MONDO:equivalentTo |
Mucopolysaccharidosis type 2, attenuated form |
|
|
MONDO:0861928 |
rin2 syndrome |
GARD:17120 |
MONDO:equivalentTo |
RIN2 syndrome |
|
|
MONDO:0861929 |
17q21.31 microduplication syndrome |
GARD:17121 |
MONDO:equivalentTo |
17q21.31 microduplication syndrome |
|
|
MONDO:0861930 |
17p13.3 microduplication syndrome |
GARD:17122 |
MONDO:equivalentTo |
17p13.3 microduplication syndrome |
|
|
MONDO:0861931 |
progressive polyneuropathy with bilateral striatal necrosis |
GARD:17123 |
MONDO:equivalentTo |
Progressive polyneuropathy with bilateral striatal necrosis |
|
|
MONDO:0861932 |
hereditary hypotrichosis with recurrent skin vesicles |
GARD:17124 |
MONDO:equivalentTo |
Hereditary hypotrichosis with recurrent skin vesicles |
|
|
MONDO:0861933 |
hereditary thrombophilia due to congenital histidine-rich (poly-l) glycoprotein deficiency |
GARD:17125 |
MONDO:equivalentTo |
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency |
|
|
MONDO:0861934 |
neonatal acute respiratory distress due to sp-b deficiency |
GARD:17126 |
MONDO:equivalentTo |
Neonatal acute respiratory distress due to SP-B deficiency |
|
|
MONDO:0861935 |
chronic respiratory distress with surfactant metabolism deficiency |
GARD:17127 |
MONDO:equivalentTo |
Chronic respiratory distress with surfactant metabolism deficiency |
|
|
MONDO:0861936 |
sensorineural deafness with dilated cardiomyopathy |
GARD:17128 |
MONDO:equivalentTo |
Sensorineural deafness with dilated cardiomyopathy |
|
|
MONDO:0861937 |
familial isolated arrhythmogenic right ventricular dysplasia |
GARD:17129 |
MONDO:equivalentTo |
Familial isolated arrhythmogenic right ventricular dysplasia |
|
|
MONDO:0861938 |
xeroderma pigmentosum-cockayne syndrome complex |
GARD:17130 |
MONDO:equivalentTo |
Xeroderma pigmentosum-Cockayne syndrome complex |
|
|
MONDO:0861939 |
semilobar holoprosencephaly |
GARD:17131 |
MONDO:equivalentTo |
Semilobar holoprosencephaly |
|
|
MONDO:0861940 |
bleeding diathesis due to thromboxane synthesis deficiency |
GARD:17132 |
MONDO:equivalentTo |
Bleeding diathesis due to thromboxane synthesis deficiency |
|
|
MONDO:0861941 |
laron syndrome with immunodeficiency |
GARD:17133 |
MONDO:equivalentTo |
Laron syndrome with immunodeficiency |
|
|
MONDO:0861942 |
rothmund-thomson syndrome type 1 |
GARD:17134 |
MONDO:equivalentTo |
Rothmund-Thomson syndrome type 1 |
|
|
MONDO:0861943 |
rothmund-thomson syndrome type 2 |
GARD:17135 |
MONDO:equivalentTo |
Rothmund-Thomson syndrome type 2 |
|
|
MONDO:0861944 |
hereditary sclerosing poikiloderma, weary type |
GARD:17136 |
MONDO:equivalentTo |
Hereditary sclerosing poikiloderma, Weary type |
|
|
MONDO:0861945 |
hemifacial spasm |
GARD:17137 |
MONDO:equivalentTo |
Hemifacial spasm |
|
|
MONDO:0861946 |
fowler vasculopaty |
GARD:17138 |
MONDO:equivalentTo |
Fowler vasculopaty |
|
|
MONDO:0861947 |
combined immunodeficiency with faciooculoskeletal anomalies |
GARD:17139 |
MONDO:equivalentTo |
Combined immunodeficiency with faciooculoskeletal anomalies |
|
|
MONDO:0861948 |
cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies |
GARD:17140 |
MONDO:equivalentTo |
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies |
|
|
MONDO:0861949 |
familial infantile bilateral striatal necrosis |
GARD:17141 |
MONDO:equivalentTo |
Familial infantile bilateral striatal necrosis |
|
|
MONDO:0861950 |
hereditary breast cancer |
GARD:17142 |
MONDO:equivalentTo |
Hereditary breast cancer |
|
|
MONDO:0861951 |
autosomal recessive optic atrophy, opa7 type |
GARD:17143 |
MONDO:equivalentTo |
Autosomal recessive optic atrophy, OPA7 type |
|
|
MONDO:0861952 |
severe combined immunodeficiency due to coro1a deficiency |
GARD:17144 |
MONDO:equivalentTo |
Severe combined immunodeficiency due to CORO1A deficiency |
|
|
MONDO:0861953 |
progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome |
GARD:17145 |
MONDO:equivalentTo |
Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome |
|
|
MONDO:0861954 |
autosomal dominant striatal neurodegeneration |
GARD:17146 |
MONDO:equivalentTo |
Autosomal dominant striatal neurodegeneration |
|
|
MONDO:0861955 |
autosomal dominant charcot-marie-tooth disease type 2m |
GARD:17147 |
MONDO:equivalentTo |
Autosomal dominant Charcot-Marie-Tooth disease type 2M |
|
|
MONDO:0861956 |
patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome |
GARD:17148 |
MONDO:equivalentTo |
Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome |
|
|
MONDO:0861957 |
carnitine palmitoyl transferase ii deficiency, myopathic form |
GARD:17149 |
MONDO:equivalentTo |
Carnitine palmitoyl transferase II deficiency, myopathic form |
|
|
MONDO:0861958 |
carnitine palmitoyl transferase ii deficiency, severe infantile form |
GARD:17150 |
MONDO:equivalentTo |
Carnitine palmitoyl transferase II deficiency, severe infantile form |
|
|
MONDO:0861959 |
carnitine palmitoyl transferase ii deficiency, neonatal form |
GARD:17151 |
MONDO:equivalentTo |
Carnitine palmitoyl transferase II deficiency, neonatal form |
|
|
MONDO:0861960 |
cln8 disease |
GARD:17152 |
MONDO:equivalentTo |
CLN8 disease |
|
|
MONDO:0861961 |
charcot-marie-tooth disease type 2b5 |
GARD:17153 |
MONDO:equivalentTo |
Charcot-Marie-Tooth disease type 2B5 |
|
|
MONDO:0861962 |
spondylo-megaepiphyseal-metaphyseal dysplasia |
GARD:17154 |
MONDO:equivalentTo |
Spondylo-megaepiphyseal-metaphyseal dysplasia |
|
|
MONDO:0861963 |
isolated agammaglobulinemia |
GARD:17155 |
MONDO:equivalentTo |
Isolated agammaglobulinemia |
|
|
MONDO:0861964 |
ehlers-danlos/osteogenesis imperfecta syndrome |
GARD:17156 |
MONDO:equivalentTo |
Ehlers-Danlos/osteogenesis imperfecta syndrome |
|
|
MONDO:0861965 |
erythema palmare hereditarium |
GARD:17157 |
MONDO:equivalentTo |
Erythema palmare hereditarium |
|
|
MONDO:0861966 |
familial generalized lentiginosis |
GARD:17158 |
MONDO:equivalentTo |
Familial generalized lentiginosis |
|
|
MONDO:0861967 |
familial rhabdoid tumor |
GARD:17159 |
MONDO:equivalentTo |
Familial rhabdoid tumor |
|
|
MONDO:0861968 |
beckwith-wiedemann syndrome due to cdkn1c mutation |
GARD:17160 |
MONDO:equivalentTo |
Beckwith-Wiedemann syndrome due to CDKN1C mutation |
|
|
MONDO:0861969 |
familial cerebral saccular aneurysm |
GARD:17161 |
MONDO:equivalentTo |
Familial cerebral saccular aneurysm |
|
|
MONDO:0861970 |
beta-thalassemia major |
GARD:17162 |
MONDO:equivalentTo |
Beta-thalassemia major |
|
|
MONDO:0861971 |
beta-thalassemia intermedia |
GARD:17163 |
MONDO:equivalentTo |
Beta-thalassemia intermedia |
|
|
MONDO:0861972 |
dominant beta-thalassemia |
GARD:17164 |
MONDO:equivalentTo |
Dominant beta-thalassemia |
|
|
MONDO:0861973 |
delta-beta-thalassemia |
GARD:17165 |
MONDO:equivalentTo |
Delta-beta-thalassemia |
|
|
MONDO:0861974 |
beta-thalassemia-x-linked thrombocytopenia syndrome |
GARD:17166 |
MONDO:equivalentTo |
Beta-thalassemia-X-linked thrombocytopenia syndrome |
|
|
MONDO:0861975 |
alpha-thalassemia-myelodysplastic syndrome |
GARD:17167 |
MONDO:equivalentTo |
Alpha-thalassemia-myelodysplastic syndrome |
|
|
MONDO:0861976 |
hermansky-pudlak syndrome due to bloc-3 deficiency |
GARD:17168 |
MONDO:equivalentTo |
Hermansky-Pudlak syndrome due to BLOC-3 deficiency |
|
|
MONDO:0861977 |
hermansky-pudlak syndrome due to bloc-2 deficiency |
GARD:17169 |
MONDO:equivalentTo |
Hermansky-Pudlak syndrome due to BLOC-2 deficiency |
|
|
MONDO:0861978 |
hermansky-pudlak syndrome due to bloc-1 deficiency |
GARD:17170 |
MONDO:equivalentTo |
Hermansky-Pudlak syndrome due to BLOC-1 deficiency |
|
|
MONDO:0861979 |
severe x-linked mitochondrial encephalomyopathy |
GARD:17171 |
MONDO:equivalentTo |
Severe X-linked mitochondrial encephalomyopathy |
|
|
MONDO:0861980 |
15q11q13 microduplication syndrome |
GARD:17172 |
MONDO:equivalentTo |
15q11q13 microduplication syndrome |
|
|
MONDO:0861981 |
familial hypercholanemia |
GARD:17173 |
MONDO:equivalentTo |
Familial hypercholanemia |
|
|
MONDO:0861982 |
combined immunodeficiency due to cd27 deficiency |
GARD:17174 |
MONDO:equivalentTo |
Combined immunodeficiency due to CD27 deficiency |
|
|
MONDO:0861983 |
atypical hypotonia-cystinuria syndrome |
GARD:17175 |
MONDO:equivalentTo |
Atypical hypotonia-cystinuria syndrome |
|
|
MONDO:0861984 |
chuvash erythrocytosis |
GARD:17176 |
MONDO:equivalentTo |
Chuvash erythrocytosis |
|
|
MONDO:0861985 |
familial clubfoot due to 17q23.1q23.2 microduplication |
GARD:17177 |
MONDO:equivalentTo |
Familial clubfoot due to 17q23.1q23.2 microduplication |
|
|
MONDO:0861986 |
beckwith-wiedemann syndrome due to nsd1 mutation |
GARD:17178 |
MONDO:equivalentTo |
Beckwith-Wiedemann syndrome due to NSD1 mutation |
|
|
MONDO:0861987 |
isolated thyrotropin-releasing hormone deficiency |
GARD:17179 |
MONDO:equivalentTo |
Isolated thyrotropin-releasing hormone deficiency |
|
|
MONDO:0861988 |
mammary-digital-nail syndrome |
GARD:17180 |
MONDO:equivalentTo |
Mammary-digital-nail syndrome |
|
|
MONDO:0861989 |
4q21 microdeletion syndrome |
GARD:17181 |
MONDO:equivalentTo |
4q21 microdeletion syndrome |
|
|
MONDO:0861990 |
classic progressive supranuclear palsy syndrome |
GARD:17182 |
MONDO:equivalentTo |
Classic progressive supranuclear palsy syndrome |
|
|
MONDO:0861991 |
progressive supranuclear palsy-parkinsonism syndrome |
GARD:17183 |
MONDO:equivalentTo |
Progressive supranuclear palsy-parkinsonism syndrome |
|
|
MONDO:0861992 |
nijmegen breakage syndrome-like disorder |
GARD:17184 |
MONDO:equivalentTo |
Nijmegen breakage syndrome-like disorder |
|
|
MONDO:0861993 |
dimethylglycine dehydrogenase deficiency |
GARD:17185 |
MONDO:equivalentTo |
Dimethylglycine dehydrogenase deficiency |
|
|
MONDO:0861994 |
dominant hypophosphatemia with nephrolithiasis or osteoporosis |
GARD:17186 |
MONDO:equivalentTo |
Dominant hypophosphatemia with nephrolithiasis or osteoporosis |
|
|
MONDO:0861995 |
progressive cerebello-cerebral atrophy |
GARD:17187 |
MONDO:equivalentTo |
Progressive cerebello-cerebral atrophy |
|
|
MONDO:0861996 |
hyperphosphatasia-intellectual disability syndrome |
GARD:17188 |
MONDO:equivalentTo |
Hyperphosphatasia-intellectual disability syndrome |
|
|
MONDO:0861997 |
autosomal dominant secondary polycythemia |
GARD:17189 |
MONDO:equivalentTo |
Autosomal dominant secondary polycythemia |
|
|
MONDO:0861998 |
primary ciliary dyskinesia-retinitis pigmentosa syndrome |
GARD:17190 |
MONDO:equivalentTo |
Primary ciliary dyskinesia-retinitis pigmentosa syndrome |
|
|
MONDO:0861999 |
perinatal lethal hypophosphatasia |
GARD:17191 |
MONDO:equivalentTo |
Perinatal lethal hypophosphatasia |
|
|
MONDO:0862000 |
infantile hypophosphatasia |
GARD:17192 |
MONDO:equivalentTo |
Infantile hypophosphatasia |
|
|
MONDO:0862001 |
adult hypophosphatasia |
GARD:17193 |
MONDO:equivalentTo |
Adult hypophosphatasia |
|
|
MONDO:0862002 |
odontohypophosphatasia |
GARD:17194 |
MONDO:equivalentTo |
Odontohypophosphatasia |
|
|
MONDO:0862003 |
müllerian aplasia and hyperandrogenism |
GARD:17195 |
MONDO:equivalentTo |
Müllerian aplasia and hyperandrogenism |
|
|
MONDO:0862004 |
juvenile cataract-microcornea-renal glucosuria syndrome |
GARD:17196 |
MONDO:equivalentTo |
Juvenile cataract-microcornea-renal glucosuria syndrome |
|
|
MONDO:0862005 |
apc-related attenuated familial adenomatous polyposis |
GARD:17197 |
MONDO:equivalentTo |
APC-related attenuated familial adenomatous polyposis |
|
|
MONDO:0862006 |
ectodermal dysplasia-syndactyly syndrome |
GARD:17198 |
MONDO:equivalentTo |
Ectodermal dysplasia-syndactyly syndrome |
|
|
MONDO:0862007 |
ectodermal dysplasia-cutaneous syndactyly syndrome |
GARD:17199 |
MONDO:equivalentTo |
Ectodermal dysplasia-cutaneous syndactyly syndrome |
|
|
MONDO:0862008 |
macrocephaly-short stature-paraplegia syndrome |
GARD:172 |
MONDO:equivalentTo |
Macrocephaly-short stature-paraplegia syndrome |
|
|
MONDO:0862009 |
occult macular dystrophy |
GARD:17200 |
MONDO:equivalentTo |
Occult macular dystrophy |
|
|
MONDO:0862010 |
nlrp12-associated hereditary periodic fever syndrome |
GARD:17201 |
MONDO:equivalentTo |
NLRP12-associated hereditary periodic fever syndrome |
|
|
MONDO:0862011 |
familial hypodysfibrinogenemia |
GARD:17202 |
MONDO:equivalentTo |
Familial hypodysfibrinogenemia |
|
|
MONDO:0862012 |
autosomal recessive stickler syndrome |
GARD:17203 |
MONDO:equivalentTo |
Autosomal recessive Stickler syndrome |
|
|
MONDO:0862013 |
satb2-associated syndrome due to a chromosomal rearrangement |
GARD:17204 |
MONDO:equivalentTo |
SATB2-associated syndrome due to a chromosomal rearrangement |
|
|
MONDO:0862014 |
microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome |
GARD:17205 |
MONDO:equivalentTo |
Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome |
|
|
MONDO:0862015 |
autosomal dominant spastic ataxia type 1 |
GARD:17206 |
MONDO:equivalentTo |
Autosomal dominant spastic ataxia type 1 |
|
|
MONDO:0862016 |
parietal foramina with clavicular hypoplasia |
GARD:17207 |
MONDO:equivalentTo |
Parietal foramina with clavicular hypoplasia |
|
|
MONDO:0862017 |
pigmented paravenous retinochoroidal atrophy |
GARD:17208 |
MONDO:equivalentTo |
Pigmented paravenous retinochoroidal atrophy |
|
|
MONDO:0862018 |
ataxia-telangiectasia-like disorder |
GARD:17209 |
MONDO:equivalentTo |
Ataxia-telangiectasia-like disorder |
|
|
MONDO:0862019 |
ck syndrome |
GARD:17210 |
MONDO:equivalentTo |
CK syndrome |
|
|
MONDO:0862020 |
46,xy partial gonadal dysgenesis |
GARD:17211 |
MONDO:equivalentTo |
46,XY partial gonadal dysgenesis |
|
|
MONDO:0862021 |
distal arthrogryposis type 10 |
GARD:17212 |
MONDO:equivalentTo |
Distal arthrogryposis type 10 |
|
|
MONDO:0862022 |
hyperzincemia and hypercalprotectinemia |
GARD:17213 |
MONDO:equivalentTo |
Hyperzincemia and hypercalprotectinemia |
|
|
MONDO:0862023 |
medulloblastoma with extensive nodularity |
GARD:17214 |
MONDO:equivalentTo |
Medulloblastoma with extensive nodularity |
|
|
MONDO:0862024 |
desmoplastic/nodular medulloblastoma |
GARD:17215 |
MONDO:equivalentTo |
Desmoplastic/nodular medulloblastoma |
|
|
MONDO:0862025 |
classic medulloblastoma |
GARD:17216 |
MONDO:equivalentTo |
Classic medulloblastoma |
|
|
MONDO:0862026 |
constitutional mismatch repair deficiency syndrome |
GARD:17217 |
MONDO:equivalentTo |
Constitutional mismatch repair deficiency syndrome |
|
|
MONDO:0862027 |
distal 7q11.23 microdeletion syndrome |
GARD:17218 |
MONDO:equivalentTo |
Distal 7q11.23 microdeletion syndrome |
|
|
MONDO:0862028 |
kagami-ogata syndrome |
GARD:17219 |
MONDO:equivalentTo |
Kagami-Ogata syndrome |
|
|
MONDO:0862029 |
erythrokeratoderma ''en cocardes'' |
GARD:1722 |
MONDO:equivalentTo |
Erythrokeratoderma ''en cocardes'' |
|
|
MONDO:0862030 |
temple syndrome due to paternal 14q32.2 microdeletion |
GARD:17220 |
MONDO:equivalentTo |
Temple syndrome due to paternal 14q32.2 microdeletion |
|
|
MONDO:0862031 |
kagami-ogata syndrome due to maternal 14q32.2 microdeletion |
GARD:17221 |
MONDO:equivalentTo |
Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion |
|
|
MONDO:0862032 |
temple syndrome due to paternal 14q32.2 hypomethylation |
GARD:17222 |
MONDO:equivalentTo |
Temple syndrome due to paternal 14q32.2 hypomethylation |
|
|
MONDO:0862033 |
kagami-ogata syndrome due to maternal 14q32.2 hypermethylation |
GARD:17223 |
MONDO:equivalentTo |
Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation |
|
|
MONDO:0862034 |
complete hydatidiform mole |
GARD:17224 |
MONDO:equivalentTo |
Complete hydatidiform mole |
|
|
MONDO:0862035 |
mitochondrial dna depletion syndrome, encephalomyopathic form |
GARD:17225 |
MONDO:equivalentTo |
Mitochondrial DNA depletion syndrome, encephalomyopathic form |
|
|
MONDO:0862036 |
lethal infantile mitochondrial myopathy |
GARD:17226 |
MONDO:equivalentTo |
Lethal infantile mitochondrial myopathy |
|
|
MONDO:0862037 |
mitochondrial myopathy with reversible cytochrome c oxidase deficiency |
GARD:17227 |
MONDO:equivalentTo |
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency |
|
|
MONDO:0862038 |
mitochondrial dna depletion syndrome, myopathic form |
GARD:17228 |
MONDO:equivalentTo |
Mitochondrial DNA depletion syndrome, myopathic form |
|
|
MONDO:0862039 |
spinocerebellar ataxia with epilepsy |
GARD:17229 |
MONDO:equivalentTo |
Spinocerebellar ataxia with epilepsy |
|
|
MONDO:0862040 |
deafness-encephaloneuropathy-obesity-valvulopathy syndrome |
GARD:17230 |
MONDO:equivalentTo |
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome |
|
|
MONDO:0862041 |
renal tubulopathy-encephalopathy-liver failure syndrome |
GARD:17231 |
MONDO:equivalentTo |
Renal tubulopathy-encephalopathy-liver failure syndrome |
|
|
MONDO:0862042 |
combined oxidative phosphorylation defect type 2 |
GARD:17232 |
MONDO:equivalentTo |
Combined oxidative phosphorylation defect type 2 |
|
|
MONDO:0862043 |
combined oxidative phosphorylation defect type 4 |
GARD:17233 |
MONDO:equivalentTo |
Combined oxidative phosphorylation defect type 4 |
|
|
MONDO:0862044 |
combined oxidative phosphorylation defect type 7 |
GARD:17234 |
MONDO:equivalentTo |
Combined oxidative phosphorylation defect type 7 |
|
|
MONDO:0862045 |
adult-onset autosomal recessive sideroblastic anemia |
GARD:17235 |
MONDO:equivalentTo |
Adult-onset autosomal recessive sideroblastic anemia |
|
|
MONDO:0862046 |
pyruvate dehydrogenase e1-beta deficiency |
GARD:17236 |
MONDO:equivalentTo |
Pyruvate dehydrogenase E1-beta deficiency |
|
|
MONDO:0862047 |
pyruvate dehydrogenase e3-binding protein deficiency |
GARD:17237 |
MONDO:equivalentTo |
Pyruvate dehydrogenase E3-binding protein deficiency |
|
|
MONDO:0862048 |
leigh syndrome with leukodystrophy |
GARD:17238 |
MONDO:equivalentTo |
Leigh syndrome with leukodystrophy |
|
|
MONDO:0862049 |
leigh syndrome with nephrotic syndrome |
GARD:17239 |
MONDO:equivalentTo |
Leigh syndrome with nephrotic syndrome |
|
|
MONDO:0862050 |
autosomal recessive sideroblastic anemia |
GARD:17240 |
MONDO:equivalentTo |
Autosomal recessive sideroblastic anemia |
|
|
MONDO:0862051 |
14q11.2 microdeletion syndrome |
GARD:17241 |
MONDO:equivalentTo |
14q11.2 microdeletion syndrome |
|
|
MONDO:0862052 |
15q14 microdeletion syndrome |
GARD:17242 |
MONDO:equivalentTo |
15q14 microdeletion syndrome |
|
|
MONDO:0862053 |
16p11.2p12.2 microdeletion syndrome |
GARD:17243 |
MONDO:equivalentTo |
16p11.2p12.2 microdeletion syndrome |
|
|
MONDO:0862054 |
distal 16p11.2 microdeletion syndrome |
GARD:17244 |
MONDO:equivalentTo |
Distal 16p11.2 microdeletion syndrome |
|
|
MONDO:0862055 |
distal 22q11.2 microdeletion syndrome |
GARD:17245 |
MONDO:equivalentTo |
Distal 22q11.2 microdeletion syndrome |
|
|
MONDO:0862056 |
xp21 deletion syndrome |
GARD:17246 |
MONDO:equivalentTo |
Xp21 deletion syndrome |
|
|
MONDO:0862057 |
xq27.3q28 duplication syndrome |
GARD:17247 |
MONDO:equivalentTo |
Xq27.3q28 duplication syndrome |
|
|
MONDO:0862058 |
mowat-wilson syndrome due to monosomy 2q22 |
GARD:17248 |
MONDO:equivalentTo |
Mowat-Wilson syndrome due to monosomy 2q22 |
|
|
MONDO:0862059 |
mowat-wilson syndrome due to a zeb2 point mutation |
GARD:17249 |
MONDO:equivalentTo |
Mowat-Wilson syndrome due to a ZEB2 point mutation |
|
|
MONDO:0862060 |
alagille syndrome due to 20p12 microdeletion |
GARD:17250 |
MONDO:equivalentTo |
Alagille syndrome due to 20p12 microdeletion |
|
|
MONDO:0862061 |
alagille syndrome due to a jag1 point mutation |
GARD:17251 |
MONDO:equivalentTo |
Alagille syndrome due to a JAG1 point mutation |
|
|
MONDO:0862062 |
alagille syndrome due to a notch2 point mutation |
GARD:17252 |
MONDO:equivalentTo |
Alagille syndrome due to a NOTCH2 point mutation |
|
|
MONDO:0862063 |
kleefstra syndrome due to a point mutation |
GARD:17253 |
MONDO:equivalentTo |
Kleefstra syndrome due to a point mutation |
|
|
MONDO:0862064 |
glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency |
GARD:17254 |
MONDO:equivalentTo |
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency |
|
|
MONDO:0862065 |
mrcs syndrome |
GARD:17255 |
MONDO:equivalentTo |
MRCS syndrome |
|
|
MONDO:0862066 |
hyperinsulinism due to insr deficiency |
GARD:17256 |
MONDO:equivalentTo |
Hyperinsulinism due to INSR deficiency |
|
|
MONDO:0862067 |
acute necrotizing encephalopathy of childhood |
GARD:17257 |
MONDO:equivalentTo |
Acute necrotizing encephalopathy of childhood |
|
|
MONDO:0862068 |
peeling skin syndrome type a |
GARD:17258 |
MONDO:equivalentTo |
Peeling skin syndrome type A |
|
|
MONDO:0862069 |
peeling skin syndrome type b |
GARD:17259 |
MONDO:equivalentTo |
Peeling skin syndrome type B |
|
|
MONDO:0862070 |
familial multiple meningioma |
GARD:17260 |
MONDO:equivalentTo |
Familial multiple meningioma |
|
|
MONDO:0862071 |
glycogen storage disease due to liver phosphorylase kinase deficiency |
GARD:17261 |
MONDO:equivalentTo |
Glycogen storage disease due to liver phosphorylase kinase deficiency |
|
|
MONDO:0862072 |
ras-associated autoimmune leukoproliferative disease |
GARD:17262 |
MONDO:equivalentTo |
RAS-associated autoimmune leukoproliferative disease |
|
|
MONDO:0862073 |
classic maple syrup urine disease |
GARD:17263 |
MONDO:equivalentTo |
Classic maple syrup urine disease |
|
|
MONDO:0862074 |
intermediate maple syrup urine disease |
GARD:17264 |
MONDO:equivalentTo |
Intermediate maple syrup urine disease |
|
|
MONDO:0862075 |
intermittent maple syrup urine disease |
GARD:17265 |
MONDO:equivalentTo |
Intermittent maple syrup urine disease |
|
|
MONDO:0862076 |
thiamine-responsive maple syrup urine disease |
GARD:17266 |
MONDO:equivalentTo |
Thiamine-responsive maple syrup urine disease |
|
|
MONDO:0862077 |
hereditary thrombocytopenia with normal platelets |
GARD:17267 |
MONDO:equivalentTo |
Hereditary thrombocytopenia with normal platelets |
|
|
MONDO:0862078 |
neural tube closure defect |
GARD:17268 |
MONDO:equivalentTo |
Neural tube closure defect |
|
|
MONDO:0862079 |
bilateral polymicrogyria |
GARD:17269 |
MONDO:equivalentTo |
Bilateral polymicrogyria |
|
|
MONDO:0862080 |
delayed membranous cranial ossification |
GARD:1727 |
MONDO:equivalentTo |
Delayed membranous cranial ossification |
|
|
MONDO:0862081 |
isolated focal cortical dysplasia type iia |
GARD:17270 |
MONDO:equivalentTo |
Isolated focal cortical dysplasia type IIa |
|
|
MONDO:0862082 |
isolated focal cortical dysplasia type iib |
GARD:17271 |
MONDO:equivalentTo |
Isolated focal cortical dysplasia type IIb |
|
|
MONDO:0862083 |
congenital non-communicating hydrocephalus |
GARD:17272 |
MONDO:equivalentTo |
Congenital non-communicating hydrocephalus |
|
|
MONDO:0862084 |
frontotemporal dementia with motor neuron disease |
GARD:17273 |
MONDO:equivalentTo |
Frontotemporal dementia with motor neuron disease |
|
|
MONDO:0862085 |
benign epithelial tumor of salivary glands |
GARD:17274 |
MONDO:equivalentTo |
Benign epithelial tumor of salivary glands |
|
|
MONDO:0862086 |
multiple endocrine neoplasia type 4 |
GARD:17275 |
MONDO:equivalentTo |
Multiple endocrine neoplasia type 4 |
|
|
MONDO:0862087 |
spinocerebellar ataxia type 32 |
GARD:17276 |
MONDO:equivalentTo |
Spinocerebellar ataxia type 32 |
|
|
MONDO:0862088 |
non-syndromic male infertility due to sperm motility disorder |
GARD:17277 |
MONDO:equivalentTo |
Non-syndromic male infertility due to sperm motility disorder |
|
|
MONDO:0862089 |
familial multinodular goiter |
GARD:17278 |
MONDO:equivalentTo |
Familial multinodular goiter |
|
|
MONDO:0862090 |
hyperbiliverdinemia |
GARD:17279 |
MONDO:equivalentTo |
Hyperbiliverdinemia |
|
|
MONDO:0862091 |
10q22.3q23.3 microdeletion syndrome |
GARD:17280 |
MONDO:equivalentTo |
10q22.3q23.3 microdeletion syndrome |
|
|
MONDO:0862092 |
ogden syndrome |
GARD:17281 |
MONDO:equivalentTo |
Ogden syndrome |
|
|
MONDO:0862093 |
lower motor neuron syndrome with late-adult onset |
GARD:17282 |
MONDO:equivalentTo |
Lower motor neuron syndrome with late-adult onset |
|
|
MONDO:0862094 |
autosomal dominant hyperinsulinism due to sur1 deficiency |
GARD:17283 |
MONDO:equivalentTo |
Autosomal dominant hyperinsulinism due to SUR1 deficiency |
|
|
MONDO:0862095 |
autosomal dominant hyperinsulinism due to kir6.2 deficiency |
GARD:17284 |
MONDO:equivalentTo |
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency |
|
|
MONDO:0862096 |
diazoxide-resistant focal hyperinsulinism due to sur1 deficiency |
GARD:17285 |
MONDO:equivalentTo |
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency |
|
|
MONDO:0862097 |
diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency |
GARD:17286 |
MONDO:equivalentTo |
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency |
|
|
MONDO:0862098 |
hereditary neutrophilia |
GARD:17287 |
MONDO:equivalentTo |
Hereditary neutrophilia |
|
|
MONDO:0862099 |
severe combined immunodeficiency due to lck deficiency |
GARD:17288 |
MONDO:equivalentTo |
Severe combined immunodeficiency due to LCK deficiency |
|
|
MONDO:0862100 |
septopreoptic holoprosencephaly |
GARD:17289 |
MONDO:equivalentTo |
Septopreoptic holoprosencephaly |
|
|
MONDO:0862101 |
microform holoprosencephaly |
GARD:17290 |
MONDO:equivalentTo |
Microform holoprosencephaly |
|
|
MONDO:0862102 |
pelizaeus-merzbacher disease, connatal form |
GARD:17291 |
MONDO:equivalentTo |
Pelizaeus-Merzbacher disease, connatal form |
|
|
MONDO:0862103 |
null syndrome |
GARD:17292 |
MONDO:equivalentTo |
Null syndrome |
|
|
MONDO:0862104 |
pelizaeus-merzbacher-like disease due to gjc2 mutation |
GARD:17293 |
MONDO:equivalentTo |
Pelizaeus-Merzbacher-like disease due to GJC2 mutation |
|
|
MONDO:0862105 |
pelizaeus-merzbacher-like disease due to hspd1 mutation |
GARD:17294 |
MONDO:equivalentTo |
Pelizaeus-Merzbacher-like disease due to HSPD1 mutation |
|
|
MONDO:0862106 |
familial steroid-resistant nephrotic syndrome with sensorineural deafness |
GARD:17295 |
MONDO:equivalentTo |
Familial steroid-resistant nephrotic syndrome with sensorineural deafness |
|
|
MONDO:0862107 |
fatal infantile hypertonic myofibrillar myopathy |
GARD:17296 |
MONDO:equivalentTo |
Fatal infantile hypertonic myofibrillar myopathy |
|
|
MONDO:0862108 |
hemoglobinopathy toms river |
GARD:17297 |
MONDO:equivalentTo |
Hemoglobinopathy Toms River |
|
|
MONDO:0862109 |
familial progressive hyper- and hypopigmentation |
GARD:17298 |
MONDO:equivalentTo |
Familial progressive hyper- and hypopigmentation |
|
|
MONDO:0862110 |
occipital pachygyria and polymicrogyria |
GARD:17299 |
MONDO:equivalentTo |
Occipital pachygyria and polymicrogyria |
|
|
MONDO:0862111 |
acrodysostosis with multiple hormone resistance |
GARD:17300 |
MONDO:equivalentTo |
Acrodysostosis with multiple hormone resistance |
|
|
MONDO:0862112 |
moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome |
GARD:17301 |
MONDO:equivalentTo |
Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome |
|
|
MONDO:0862113 |
syndromic recessive x-linked ichthyosis |
GARD:17302 |
MONDO:equivalentTo |
Syndromic recessive X-linked ichthyosis |
|
|
MONDO:0862114 |
self-improving collodion baby |
GARD:17303 |
MONDO:equivalentTo |
Self-improving collodion baby |
|
|
MONDO:0862115 |
annular epidermolytic ichthyosis |
GARD:17304 |
MONDO:equivalentTo |
Annular epidermolytic ichthyosis |
|
|
MONDO:0862116 |
congenital reticular ichthyosiform erythroderma |
GARD:17305 |
MONDO:equivalentTo |
Congenital reticular ichthyosiform erythroderma |
|
|
MONDO:0862117 |
keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome |
GARD:17306 |
MONDO:equivalentTo |
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome |
|
|
MONDO:0862118 |
inherited creutzfeldt-jakob disease |
GARD:17307 |
MONDO:equivalentTo |
Inherited Creutzfeldt-Jakob disease |
|
|
MONDO:0862119 |
larsen-like syndrome, b3gat3 type |
GARD:17308 |
MONDO:equivalentTo |
Larsen-like syndrome, B3GAT3 type |
|
|
MONDO:0862120 |
craniosynostosis-dental anomalies |
GARD:17309 |
MONDO:equivalentTo |
Craniosynostosis-dental anomalies |
|
|
MONDO:0862121 |
8q21.11 microdeletion syndrome |
GARD:17310 |
MONDO:equivalentTo |
8q21.11 microdeletion syndrome |
|
|
MONDO:0862122 |
facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion |
GARD:17311 |
MONDO:equivalentTo |
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion |
|
|
MONDO:0862123 |
autosomal recessive cerebellar ataxia-psychomotor delay syndrome |
GARD:17312 |
MONDO:equivalentTo |
Autosomal recessive cerebellar ataxia-psychomotor delay syndrome |
|
|
MONDO:0862124 |
autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to wwox deficiency |
GARD:17313 |
MONDO:equivalentTo |
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency |
|
|
MONDO:0862125 |
adult-onset autosomal recessive cerebellar ataxia |
GARD:17314 |
MONDO:equivalentTo |
Adult-onset autosomal recessive cerebellar ataxia |
|
|
MONDO:0862126 |
pontocerebellar hypoplasia type 7 |
GARD:17315 |
MONDO:equivalentTo |
Pontocerebellar hypoplasia type 7 |
|
|
MONDO:0862127 |
glycerol kinase deficiency, juvenile form |
GARD:17316 |
MONDO:equivalentTo |
Glycerol kinase deficiency, juvenile form |
|
|
MONDO:0862128 |
glycerol kinase deficiency, adult form |
GARD:17317 |
MONDO:equivalentTo |
Glycerol kinase deficiency, adult form |
|
|
MONDO:0862129 |
marfan syndrome type 2 |
GARD:17318 |
MONDO:equivalentTo |
Marfan syndrome type 2 |
|
|
MONDO:0862130 |
hypocalcemic vitamin d-dependent rickets |
GARD:17319 |
MONDO:equivalentTo |
Hypocalcemic vitamin D-dependent rickets |
|
|
MONDO:0862131 |
autosomal recessive hypophosphatemic rickets |
GARD:17320 |
MONDO:equivalentTo |
Autosomal recessive hypophosphatemic rickets |
|
|
MONDO:0862132 |
hypermethioninemia encephalopathy due to adenosine kinase deficiency |
GARD:17321 |
MONDO:equivalentTo |
Hypermethioninemia encephalopathy due to adenosine kinase deficiency |
|
|
MONDO:0862133 |
developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency |
GARD:17322 |
MONDO:equivalentTo |
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency |
|
|
MONDO:0862134 |
familial vesicoureteral reflux |
GARD:17323 |
MONDO:equivalentTo |
Familial vesicoureteral reflux |
|
|
MONDO:0862135 |
early-onset myopathy with fatal cardiomyopathy |
GARD:17324 |
MONDO:equivalentTo |
Early-onset myopathy with fatal cardiomyopathy |
|
|
MONDO:0862136 |
myosclerosis |
GARD:17325 |
MONDO:equivalentTo |
Myosclerosis |
|
|
MONDO:0862137 |
intellectual disability-alacrima-achalasia syndrome |
GARD:17326 |
MONDO:equivalentTo |
Intellectual disability-alacrima-achalasia syndrome |
|
|
MONDO:0862138 |
congenital cataract microcornea with corneal opacity |
GARD:17327 |
MONDO:equivalentTo |
Congenital cataract microcornea with corneal opacity |
|
|
MONDO:0862139 |
dysmorphism-conductive hearing loss-heart defect syndrome |
GARD:17328 |
MONDO:equivalentTo |
Dysmorphism-conductive hearing loss-heart defect syndrome |
|
|
MONDO:0862140 |
exfoliative ichthyosis |
GARD:17329 |
MONDO:equivalentTo |
Exfoliative ichthyosis |
|
|
MONDO:0862141 |
glutathione synthetase deficiency with 5-oxoprolinuria |
GARD:17330 |
MONDO:equivalentTo |
Glutathione synthetase deficiency with 5-oxoprolinuria |
|
|
MONDO:0862142 |
glutathione synthetase deficiency without 5-oxoprolinuria |
GARD:17331 |
MONDO:equivalentTo |
Glutathione synthetase deficiency without 5-oxoprolinuria |
|
|
MONDO:0862143 |
neonatal glycine encephalopathy |
GARD:17332 |
MONDO:equivalentTo |
Neonatal glycine encephalopathy |
|
|
MONDO:0862144 |
infantile glycine encephalopathy |
GARD:17333 |
MONDO:equivalentTo |
Infantile glycine encephalopathy |
|
|
MONDO:0862145 |
atypical glycine encephalopathy |
GARD:17334 |
MONDO:equivalentTo |
Atypical glycine encephalopathy |
|
|
MONDO:0862146 |
vitamin b12-unresponsive methylmalonic acidemia type mut0 |
GARD:17335 |
MONDO:equivalentTo |
Vitamin B12-unresponsive methylmalonic acidemia type mut0 |
|
|
MONDO:0862147 |
familial clubfoot due to 5q31 microdeletion |
GARD:17336 |
MONDO:equivalentTo |
Familial clubfoot due to 5q31 microdeletion |
|
|
MONDO:0862148 |
familial clubfoot due to pitx1 point mutation |
GARD:17337 |
MONDO:equivalentTo |
Familial clubfoot due to PITX1 point mutation |
|
|
MONDO:0862149 |
epithelial recurrent erosion dystrophy |
GARD:17338 |
MONDO:equivalentTo |
Epithelial recurrent erosion dystrophy |
|
|
MONDO:0862150 |
x-linked endothelial corneal dystrophy |
GARD:17339 |
MONDO:equivalentTo |
X-linked endothelial corneal dystrophy |
|
|
MONDO:0862151 |
pycr1-related de barsy syndrome |
GARD:17340 |
MONDO:equivalentTo |
PYCR1-related De Barsy syndrome |
|
|
MONDO:0862152 |
blepharophimosis-intellectual disability syndrome, mkb type |
GARD:17341 |
MONDO:equivalentTo |
Blepharophimosis-intellectual disability syndrome, MKB type |
|
|
MONDO:0862153 |
blepharophimosis-intellectual disability syndrome, verloes type |
GARD:17342 |
MONDO:equivalentTo |
Blepharophimosis-intellectual disability syndrome, Verloes type |
|
|
MONDO:0862154 |
mitf-related melanoma and renal cell carcinoma predisposition syndrome |
GARD:17343 |
MONDO:equivalentTo |
MITF-related melanoma and renal cell carcinoma predisposition syndrome |
|
|
MONDO:0862155 |
congenital dyserythropoietic anemia type iv |
GARD:17344 |
MONDO:equivalentTo |
Congenital dyserythropoietic anemia type IV |
|
|
MONDO:0862156 |
familial isolated arrhythmogenic ventricular dysplasia, left dominant form |
GARD:17345 |
MONDO:equivalentTo |
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form |
|
|
MONDO:0862157 |
familial isolated arrhythmogenic ventricular dysplasia, biventricular form |
GARD:17346 |
MONDO:equivalentTo |
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form |
|
|
MONDO:0862158 |
familial isolated arrhythmogenic ventricular dysplasia, right dominant form |
GARD:17347 |
MONDO:equivalentTo |
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form |
|
|
MONDO:0862159 |
lethal occipital encephalocele-skeletal dysplasia syndrome |
GARD:17348 |
MONDO:equivalentTo |
Lethal occipital encephalocele-skeletal dysplasia syndrome |
|
|
MONDO:0862160 |
edict syndrome |
GARD:17349 |
MONDO:equivalentTo |
EDICT syndrome |
|
|
MONDO:0862161 |
distal xq28 microduplication syndrome |
GARD:17350 |
MONDO:equivalentTo |
Distal Xq28 microduplication syndrome |
|
|
MONDO:0862162 |
hypertelorism-preauricular sinus-punctual pits-deafness syndrome |
GARD:17351 |
MONDO:equivalentTo |
Hypertelorism-preauricular sinus-punctual pits-deafness syndrome |
|
|
MONDO:0862163 |
hypoinsulinemic hypoglycemia and body hemihypertrophy |
GARD:17352 |
MONDO:equivalentTo |
Hypoinsulinemic hypoglycemia and body hemihypertrophy |
|
|
MONDO:0862164 |
deficiency in anterior pituitary function-variable immunodeficiency syndrome |
GARD:17353 |
MONDO:equivalentTo |
Deficiency in anterior pituitary function-variable immunodeficiency syndrome |
|
|
MONDO:0862165 |
microcephaly-capillary malformation syndrome |
GARD:17354 |
MONDO:equivalentTo |
Microcephaly-capillary malformation syndrome |
|
|
MONDO:0862166 |
neonatal inflammatory skin and bowel disease |
GARD:17355 |
MONDO:equivalentTo |
Neonatal inflammatory skin and bowel disease |
|
|
MONDO:0862167 |
renal-hepatic-pancreatic dysplasia |
GARD:17356 |
MONDO:equivalentTo |
Renal-hepatic-pancreatic dysplasia |
|
|
MONDO:0862168 |
zygodactyly type 1 |
GARD:17357 |
MONDO:equivalentTo |
Zygodactyly type 1 |
|
|
MONDO:0862169 |
synpolydactyly type 1 |
GARD:17358 |
MONDO:equivalentTo |
Synpolydactyly type 1 |
|
|
MONDO:0862170 |
synpolydactyly type 2 |
GARD:17359 |
MONDO:equivalentTo |
Synpolydactyly type 2 |
|
|
MONDO:0862171 |
synpolydactyly type 3 |
GARD:17360 |
MONDO:equivalentTo |
Synpolydactyly type 3 |
|
|
MONDO:0862172 |
kyphoscoliotic ehlers-danlos syndrome due to fkbp22 deficiency |
GARD:17361 |
MONDO:equivalentTo |
Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency |
|
|
MONDO:0862173 |
connective tissue disorder due to lysyl hydroxylase-3 deficiency |
GARD:17362 |
MONDO:equivalentTo |
Connective tissue disorder due to lysyl hydroxylase-3 deficiency |
|
|
MONDO:0862174 |
transient infantile hypertriglyceridemia and hepatosteatosis |
GARD:17363 |
MONDO:equivalentTo |
Transient infantile hypertriglyceridemia and hepatosteatosis |
|
|
MONDO:0862175 |
severe congenital hypochromic anemia with ringed sideroblasts |
GARD:17364 |
MONDO:equivalentTo |
Severe congenital hypochromic anemia with ringed sideroblasts |
|
|
MONDO:0862176 |
congenital cataract-hearing loss-severe developmental delay syndrome |
GARD:17365 |
MONDO:equivalentTo |
Congenital cataract-hearing loss-severe developmental delay syndrome |
|
|
MONDO:0862177 |
persistent polyclonal b-cell lymphocytosis |
GARD:17366 |
MONDO:equivalentTo |
Persistent polyclonal B-cell lymphocytosis |
|
|
MONDO:0862178 |
nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome |
GARD:17367 |
MONDO:equivalentTo |
Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome |
|
|
MONDO:0862179 |
autosomal systemic lupus erythematosus |
GARD:17368 |
MONDO:equivalentTo |
Autosomal systemic lupus erythematosus |
|
|
MONDO:0862180 |
plcg2-associated antibody deficiency and immune dysregulation |
GARD:17369 |
MONDO:equivalentTo |
PLCG2-associated antibody deficiency and immune dysregulation |
|
|
MONDO:0862181 |
x-linked acrogigantism |
GARD:17370 |
MONDO:equivalentTo |
X-linked acrogigantism |
|
|
MONDO:0862182 |
progeroid and marfanoid aspect-lipodystrophy syndrome |
GARD:17371 |
MONDO:equivalentTo |
Progeroid and marfanoid aspect-lipodystrophy syndrome |
|
|
MONDO:0862183 |
pseudohypoaldosteronism type 2d |
GARD:17372 |
MONDO:equivalentTo |
Pseudohypoaldosteronism type 2D |
|
|
MONDO:0862184 |
pseudohypoaldosteronism type 2e |
GARD:17373 |
MONDO:equivalentTo |
Pseudohypoaldosteronism type 2E |
|
|
MONDO:0862185 |
autosomal recessive infantile hypercalcemia |
GARD:17374 |
MONDO:equivalentTo |
Autosomal recessive infantile hypercalcemia |
|
|
MONDO:0862186 |
polymicrogyria due to tubb2b mutation |
GARD:17375 |
MONDO:equivalentTo |
Polymicrogyria due to TUBB2B mutation |
|
|
MONDO:0862187 |
oligodontia-cancer predisposition syndrome |
GARD:17376 |
MONDO:equivalentTo |
Oligodontia-cancer predisposition syndrome |
|
|
MONDO:0862188 |
interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome |
GARD:17377 |
MONDO:equivalentTo |
Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome |
|
|
MONDO:0862189 |
autosomal recessive spastic paraplegia type 48 |
GARD:17378 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 48 |
|
|
MONDO:0862190 |
congenital hereditary facial paralysis-variable hearing loss syndrome |
GARD:17379 |
MONDO:equivalentTo |
Congenital hereditary facial paralysis-variable hearing loss syndrome |
|
|
MONDO:0862191 |
porencephaly-microcephaly-bilateral congenital cataract syndrome |
GARD:17380 |
MONDO:equivalentTo |
Porencephaly-microcephaly-bilateral congenital cataract syndrome |
|
|
MONDO:0862192 |
primary microcephaly-epilepsy-permanent neonatal diabetes syndrome |
GARD:17381 |
MONDO:equivalentTo |
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome |
|
|
MONDO:0862193 |
sodium channelopathy-related small fiber neuropathy |
GARD:17382 |
MONDO:equivalentTo |
Sodium channelopathy-related small fiber neuropathy |
|
|
MONDO:0862194 |
primary dystonia, dyt21 type |
GARD:17383 |
MONDO:equivalentTo |
Primary dystonia, DYT21 type |
|
|
MONDO:0862195 |
hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome |
GARD:17384 |
MONDO:equivalentTo |
Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome |
|
|
MONDO:0862196 |
methylcobalamin deficiency type cbldv1 |
GARD:17385 |
MONDO:equivalentTo |
Methylcobalamin deficiency type cblDv1 |
|
|
MONDO:0862197 |
sulfite oxidase deficiency due to molybdenum cofactor deficiency type a |
GARD:17386 |
MONDO:equivalentTo |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A |
|
|
MONDO:0862198 |
sulfite oxidase deficiency due to molybdenum cofactor deficiency type b |
GARD:17387 |
MONDO:equivalentTo |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B |
|
|
MONDO:0862199 |
sulfite oxidase deficiency due to molybdenum cofactor deficiency type c |
GARD:17388 |
MONDO:equivalentTo |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C |
|
|
MONDO:0862200 |
autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency |
GARD:17389 |
MONDO:equivalentTo |
Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency |
|
|
MONDO:0862201 |
methylmalonic acidemia due to methylmalonyl-coa epimerase deficiency |
GARD:17390 |
MONDO:equivalentTo |
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency |
|
|
MONDO:0862202 |
vitamin b12-responsive methylmalonic acidemia, type cbldv2 |
GARD:17391 |
MONDO:equivalentTo |
Vitamin B12-responsive methylmalonic acidemia, type cblDv2 |
|
|
MONDO:0862203 |
erythrocyte galactose epimerase deficiency |
GARD:17392 |
MONDO:equivalentTo |
Erythrocyte galactose epimerase deficiency |
|
|
MONDO:0862204 |
generalized galactose epimerase deficiency |
GARD:17393 |
MONDO:equivalentTo |
Generalized galactose epimerase deficiency |
|
|
MONDO:0862205 |
glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form |
GARD:17394 |
MONDO:equivalentTo |
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form |
|
|
MONDO:0862206 |
glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form |
GARD:17395 |
MONDO:equivalentTo |
Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form |
|
|
MONDO:0862207 |
glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form |
GARD:17396 |
MONDO:equivalentTo |
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form |
|
|
MONDO:0862208 |
glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form |
GARD:17397 |
MONDO:equivalentTo |
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form |
|
|
MONDO:0862209 |
glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form |
GARD:17398 |
MONDO:equivalentTo |
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form |
|
|
MONDO:0862210 |
glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form |
GARD:17399 |
MONDO:equivalentTo |
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form |
|
|
MONDO:0862211 |
glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form |
GARD:17400 |
MONDO:equivalentTo |
Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form |
|
|
MONDO:0862212 |
pancreatic triacylglycerol lipase deficiency |
GARD:17401 |
MONDO:equivalentTo |
Pancreatic triacylglycerol lipase deficiency |
|
|
MONDO:0862213 |
pancreatic colipase deficiency |
GARD:17402 |
MONDO:equivalentTo |
Pancreatic colipase deficiency |
|
|
MONDO:0862214 |
combined pancreatic lipase-colipase deficiency |
GARD:17403 |
MONDO:equivalentTo |
Combined pancreatic lipase-colipase deficiency |
|
|
MONDO:0862215 |
sandhoff disease, juvenile form |
GARD:17404 |
MONDO:equivalentTo |
Sandhoff disease, juvenile form |
|
|
MONDO:0862216 |
sandhoff disease, adult form |
GARD:17405 |
MONDO:equivalentTo |
Sandhoff disease, adult form |
|
|
MONDO:0862217 |
gm2 gangliosidosis, ab variant |
GARD:17406 |
MONDO:equivalentTo |
GM2 gangliosidosis, AB variant |
|
|
MONDO:0862218 |
alpha-mannosidosis, infantile form |
GARD:17407 |
MONDO:equivalentTo |
Alpha-mannosidosis, infantile form |
|
|
MONDO:0862219 |
alpha-mannosidosis, adult form |
GARD:17408 |
MONDO:equivalentTo |
Alpha-mannosidosis, adult form |
|
|
MONDO:0862220 |
early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome |
GARD:17409 |
MONDO:equivalentTo |
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome |
|
|
MONDO:0862221 |
jawad syndrome |
GARD:17410 |
MONDO:equivalentTo |
Jawad syndrome |
|
|
MONDO:0862222 |
retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome |
GARD:17411 |
MONDO:equivalentTo |
Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome |
|
|
MONDO:0862223 |
coats plus syndrome |
GARD:17412 |
MONDO:equivalentTo |
Coats plus syndrome |
|
|
MONDO:0862224 |
familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome |
GARD:17413 |
MONDO:equivalentTo |
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome |
|
|
MONDO:0862225 |
12p12.1 microdeletion syndrome |
GARD:17414 |
MONDO:equivalentTo |
12p12.1 microdeletion syndrome |
|
|
MONDO:0862226 |
developmental and speech delay due to sox5 deficiency |
GARD:17415 |
MONDO:equivalentTo |
Developmental and speech delay due to SOX5 deficiency |
|
|
MONDO:0862227 |
gastric adenocarcinoma and proximal polyposis of the stomach |
GARD:17416 |
MONDO:equivalentTo |
Gastric adenocarcinoma and proximal polyposis of the stomach |
|
|
MONDO:0862228 |
chronic infantile diarrhea due to guanylate cyclase 2c overactivity |
GARD:17417 |
MONDO:equivalentTo |
Chronic infantile diarrhea due to guanylate cyclase 2C overactivity |
|
|
MONDO:0862229 |
intestinal obstruction in the newborn due to guanylate cyclase 2c deficiency |
GARD:17418 |
MONDO:equivalentTo |
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency |
|
|
MONDO:0862230 |
short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome |
GARD:17419 |
MONDO:equivalentTo |
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome |
|
|
MONDO:0862231 |
autosomal dominant aplasia and myelodysplasia |
GARD:17420 |
MONDO:equivalentTo |
Autosomal dominant aplasia and myelodysplasia |
|
|
MONDO:0862232 |
young adult-onset distal hereditary motor neuropathy |
GARD:17421 |
MONDO:equivalentTo |
Young adult-onset distal hereditary motor neuropathy |
|
|
MONDO:0862233 |
facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome |
GARD:17422 |
MONDO:equivalentTo |
Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome |
|
|
MONDO:0862234 |
15q overgrowth syndrome |
GARD:17423 |
MONDO:equivalentTo |
15q overgrowth syndrome |
|
|
MONDO:0862235 |
distal tetrasomy 15q |
GARD:17424 |
MONDO:equivalentTo |
Distal tetrasomy 15q |
|
|
MONDO:0862236 |
autosomal recessive spastic ataxia with leukoencephalopathy |
GARD:17425 |
MONDO:equivalentTo |
Autosomal recessive spastic ataxia with leukoencephalopathy |
|
|
MONDO:0862237 |
cln11 disease |
GARD:17426 |
MONDO:equivalentTo |
CLN11 disease |
|
|
MONDO:0862238 |
atp13a2-related juvenile neuronal ceroid lipofuscinosis |
GARD:17427 |
MONDO:equivalentTo |
ATP13A2-related juvenile neuronal ceroid lipofuscinosis |
|
|
MONDO:0862239 |
mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mto1 deficiency |
GARD:17428 |
MONDO:equivalentTo |
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency |
|
|
MONDO:0862240 |
non-progressive cerebellar ataxia with intellectual disability |
GARD:17429 |
MONDO:equivalentTo |
Non-progressive cerebellar ataxia with intellectual disability |
|
|
MONDO:0862241 |
combined immunodeficiency due to stk4 deficiency |
GARD:17430 |
MONDO:equivalentTo |
Combined immunodeficiency due to STK4 deficiency |
|
|
MONDO:0862242 |
primary systemic amyloidosis |
GARD:17431 |
MONDO:equivalentTo |
Primary systemic amyloidosis |
|
|
MONDO:0862243 |
lethal arteriopathy syndrome due to fibulin-4 deficiency |
GARD:17432 |
MONDO:equivalentTo |
Lethal arteriopathy syndrome due to fibulin-4 deficiency |
|
|
MONDO:0862244 |
atypical dentin dysplasia due to smoc2 deficiency |
GARD:17433 |
MONDO:equivalentTo |
Atypical dentin dysplasia due to SMOC2 deficiency |
|
|
MONDO:0862245 |
shox-related short stature |
GARD:17434 |
MONDO:equivalentTo |
SHOX-related short stature |
|
|
MONDO:0862246 |
short stature due to partial ghr deficiency |
GARD:17435 |
MONDO:equivalentTo |
Short stature due to partial GHR deficiency |
|
|
MONDO:0862247 |
short stature due to ghsr deficiency |
GARD:17436 |
MONDO:equivalentTo |
Short stature due to GHSR deficiency |
|
|
MONDO:0862248 |
severe canavan disease |
GARD:17437 |
MONDO:equivalentTo |
Severe Canavan disease |
|
|
MONDO:0862249 |
mild canavan disease |
GARD:17438 |
MONDO:equivalentTo |
Mild Canavan disease |
|
|
MONDO:0862250 |
x-linked non progressive cerebellar ataxia |
GARD:17439 |
MONDO:equivalentTo |
X-linked non progressive cerebellar ataxia |
|
|
MONDO:0862251 |
cataract-congenital heart disease-neural tube defect syndrome |
GARD:17440 |
MONDO:equivalentTo |
Cataract-congenital heart disease-neural tube defect syndrome |
|
|
MONDO:0862252 |
severe combined immunodeficiency due to dna-pkcs deficiency |
GARD:17441 |
MONDO:equivalentTo |
Severe combined immunodeficiency due to DNA-PKcs deficiency |
|
|
MONDO:0862253 |
pancytopenia due to ikzf1 mutations |
GARD:17442 |
MONDO:equivalentTo |
Pancytopenia due to IKZF1 mutations |
|
|
MONDO:0862254 |
congenital myopathy with internal nuclei and atypical cores |
GARD:17443 |
MONDO:equivalentTo |
Congenital myopathy with internal nuclei and atypical cores |
|
|
MONDO:0862255 |
familial cortical myoclonus |
GARD:17444 |
MONDO:equivalentTo |
Familial cortical myoclonus |
|
|
MONDO:0862256 |
autosomal recessive spastic paraplegia type 53 |
GARD:17445 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 53 |
|
|
MONDO:0862257 |
mit family translocation renal cell carcinoma |
GARD:17446 |
MONDO:equivalentTo |
MiT family translocation renal cell carcinoma |
|
|
MONDO:0862258 |
autosomal recessive myogenic arthrogryposis multiplex congenita |
GARD:17447 |
MONDO:equivalentTo |
Autosomal recessive myogenic arthrogryposis multiplex congenita |
|
|
MONDO:0862259 |
carney complex-trismus-pseudocamptodactyly syndrome |
GARD:17448 |
MONDO:equivalentTo |
Carney complex-trismus-pseudocamptodactyly syndrome |
|
|
MONDO:0862260 |
inherited cancer-predisposing syndrome due to biallelic brca2 mutations |
GARD:17449 |
MONDO:equivalentTo |
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations |
|
|
MONDO:0862261 |
inherited acute myeloid leukemia |
GARD:17450 |
MONDO:equivalentTo |
Inherited acute myeloid leukemia |
|
|
MONDO:0862262 |
acute myeloid leukemia with cebpa somatic mutations |
GARD:17451 |
MONDO:equivalentTo |
Acute myeloid leukemia with CEBPA somatic mutations |
|
|
MONDO:0862263 |
combined oxidative phosphorylation defect type 8 |
GARD:17452 |
MONDO:equivalentTo |
Combined oxidative phosphorylation defect type 8 |
|
|
MONDO:0862264 |
combined oxidative phosphorylation defect type 9 |
GARD:17453 |
MONDO:equivalentTo |
Combined oxidative phosphorylation defect type 9 |
|
|
MONDO:0862265 |
combined oxidative phosphorylation defect type 13 |
GARD:17454 |
MONDO:equivalentTo |
Combined oxidative phosphorylation defect type 13 |
|
|
MONDO:0862266 |
combined oxidative phosphorylation defect type 14 |
GARD:17455 |
MONDO:equivalentTo |
Combined oxidative phosphorylation defect type 14 |
|
|
MONDO:0862267 |
combined oxidative phosphorylation defect type 15 |
GARD:17456 |
MONDO:equivalentTo |
Combined oxidative phosphorylation defect type 15 |
|
|
MONDO:0862268 |
mendelian susceptibility to mycobacterial diseases due to complete ifngammar2 deficiency |
GARD:17457 |
MONDO:equivalentTo |
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency |
|
|
MONDO:0862269 |
mendelian susceptibility to mycobacterial diseases due to complete isg15 deficiency |
GARD:17458 |
MONDO:equivalentTo |
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
|
|
MONDO:0862270 |
autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial ifngammar1 deficiency |
GARD:17459 |
MONDO:equivalentTo |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency |
|
|
MONDO:0862271 |
autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiency |
GARD:17460 |
MONDO:equivalentTo |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency |
|
|
MONDO:0862272 |
autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar1 deficiency |
GARD:17461 |
MONDO:equivalentTo |
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency |
|
|
MONDO:0862273 |
mendelian susceptibility to mycobacterial diseases due to partial stat1 deficiency |
GARD:17462 |
MONDO:equivalentTo |
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency |
|
|
MONDO:0862274 |
mendelian susceptibility to mycobacterial diseases due to partial irf8 deficiency |
GARD:17463 |
MONDO:equivalentTo |
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency |
|
|
MONDO:0862275 |
x-linked mendelian susceptibility to mycobacterial diseases |
GARD:17464 |
MONDO:equivalentTo |
X-linked mendelian susceptibility to mycobacterial diseases |
|
|
MONDO:0862276 |
x-linked mendelian susceptibility to mycobacterial diseases due to cybb deficiency |
GARD:17465 |
MONDO:equivalentTo |
X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency |
|
|
MONDO:0862277 |
amyloidosis cutis dyschromia |
GARD:17466 |
MONDO:equivalentTo |
Amyloidosis cutis dyschromia |
|
|
MONDO:0862278 |
retinal macular dystrophy type 2 |
GARD:17467 |
MONDO:equivalentTo |
Retinal macular dystrophy type 2 |
|
|
MONDO:0862279 |
alazami syndrome |
GARD:17468 |
MONDO:equivalentTo |
Alazami syndrome |
|
|
MONDO:0862280 |
microcephalic primordial dwarfism, dauber type |
GARD:17469 |
MONDO:equivalentTo |
Microcephalic primordial dwarfism, Dauber type |
|
|
MONDO:0862281 |
encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome |
GARD:17470 |
MONDO:equivalentTo |
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome |
|
|
MONDO:0862282 |
autosomal dominant spastic paraplegia type 41 |
GARD:17471 |
MONDO:equivalentTo |
Autosomal dominant spastic paraplegia type 41 |
|
|
MONDO:0862283 |
autosomal dominant spastic paraplegia type 36 |
GARD:17472 |
MONDO:equivalentTo |
Autosomal dominant spastic paraplegia type 36 |
|
|
MONDO:0862284 |
autosomal recessive spastic paraplegia type 43 |
GARD:17473 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 43 |
|
|
MONDO:0862285 |
autosomal recessive spastic paraplegia type 55 |
GARD:17474 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 55 |
|
|
MONDO:0862286 |
autosomal recessive spastic paraplegia type 54 |
GARD:17475 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 54 |
|
|
MONDO:0862287 |
autosomal recessive spastic paraplegia type 46 |
GARD:17476 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 46 |
|
|
MONDO:0862288 |
autosomal recessive spastic paraplegia type 45 |
GARD:17477 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 45 |
|
|
MONDO:0862289 |
autosomal recessive spastic paraplegia type 44 |
GARD:17478 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 44 |
|
|
MONDO:0862290 |
spastic paraplegia-optic atrophy-neuropathy syndrome |
GARD:17479 |
MONDO:equivalentTo |
Spastic paraplegia-optic atrophy-neuropathy syndrome |
|
|
MONDO:0862291 |
autosomal recessive spastic paraplegia type 56 |
GARD:17480 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 56 |
|
|
MONDO:0862292 |
autosomal recessive congenital cerebellar ataxia due to mglur1 deficiency |
GARD:17481 |
MONDO:equivalentTo |
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency |
|
|
MONDO:0862293 |
early-onset lafora body disease |
GARD:17482 |
MONDO:equivalentTo |
Early-onset Lafora body disease |
|
|
MONDO:0862294 |
t-cell immunodeficiency with epidermodysplasia verruciformis |
GARD:17483 |
MONDO:equivalentTo |
T-cell immunodeficiency with epidermodysplasia verruciformis |
|
|
MONDO:0862295 |
sinoatrial node dysfunction and deafness |
GARD:17484 |
MONDO:equivalentTo |
Sinoatrial node dysfunction and deafness |
|
|
MONDO:0862296 |
x-linked intellectual disability-cardiomegaly-congestive heart failure syndrome |
GARD:17485 |
MONDO:equivalentTo |
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome |
|
|
MONDO:0862297 |
autoinflammation-plcg2-associated antibody deficiency-immune dysregulation |
GARD:17486 |
MONDO:equivalentTo |
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation |
|
|
MONDO:0862298 |
combined oxidative phosphorylation defect type 11 |
GARD:17487 |
MONDO:equivalentTo |
Combined oxidative phosphorylation defect type 11 |
|
|
MONDO:0862299 |
pontocerebellar hypoplasia type 8 |
GARD:17488 |
MONDO:equivalentTo |
Pontocerebellar hypoplasia type 8 |
|
|
MONDO:0862300 |
abetal34v amyloidosis |
GARD:17489 |
MONDO:equivalentTo |
ABetaL34V amyloidosis |
|
|
MONDO:0862301 |
abeta amyloidosis, iowa type |
GARD:17490 |
MONDO:equivalentTo |
ABeta amyloidosis, Iowa type |
|
|
MONDO:0862302 |
abeta amyloidosis, italian type |
GARD:17491 |
MONDO:equivalentTo |
ABeta amyloidosis, Italian type |
|
|
MONDO:0862303 |
abetaa21g amyloidosis |
GARD:17492 |
MONDO:equivalentTo |
ABetaA21G amyloidosis |
|
|
MONDO:0862304 |
abeta amyloidosis, arctic type |
GARD:17493 |
MONDO:equivalentTo |
ABeta amyloidosis, Arctic type |
|
|
MONDO:0862305 |
autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis |
GARD:17494 |
MONDO:equivalentTo |
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis |
|
|
MONDO:0862306 |
tall stature-long halluces-multiple extra-epiphyses syndrome |
GARD:17495 |
MONDO:equivalentTo |
Tall stature-long halluces-multiple extra-epiphyses syndrome |
|
|
MONDO:0862307 |
developmental delay with autism spectrum disorder and gait instability |
GARD:17496 |
MONDO:equivalentTo |
Developmental delay with autism spectrum disorder and gait instability |
|
|
MONDO:0862308 |
autosomal dominant neovascular inflammatory vitreoretinopathy |
GARD:17497 |
MONDO:equivalentTo |
Autosomal dominant neovascular inflammatory vitreoretinopathy |
|
|
MONDO:0862309 |
microcephalic primordial dwarfism due to znf335 deficiency |
GARD:17498 |
MONDO:equivalentTo |
Microcephalic primordial dwarfism due to ZNF335 deficiency |
|
|
MONDO:0862310 |
x-linked central congenital hypothyroidism with late-onset testicular enlargement |
GARD:17499 |
MONDO:equivalentTo |
X-linked central congenital hypothyroidism with late-onset testicular enlargement |
|
|
MONDO:0862311 |
free sialic acid storage disease, infantile form |
GARD:175 |
MONDO:equivalentTo |
Free sialic acid storage disease, infantile form |
|
|
MONDO:0862312 |
congenital chronic diarrhea with protein-losing enteropathy |
GARD:17500 |
MONDO:equivalentTo |
Congenital chronic diarrhea with protein-losing enteropathy |
|
|
MONDO:0862313 |
adult-onset multiple mitochondrial dna deletion syndrome due to dguok deficiency |
GARD:17501 |
MONDO:equivalentTo |
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency |
|
|
MONDO:0862314 |
microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome |
GARD:17502 |
MONDO:equivalentTo |
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome |
|
|
MONDO:0862315 |
adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy |
GARD:17503 |
MONDO:equivalentTo |
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy |
|
|
MONDO:0862316 |
lipoprotein glomerulopathy |
GARD:17504 |
MONDO:equivalentTo |
Lipoprotein glomerulopathy |
|
|
MONDO:0862317 |
5p13 microduplication syndrome |
GARD:17505 |
MONDO:equivalentTo |
5p13 microduplication syndrome |
|
|
MONDO:0862318 |
immunoglobulin-mediated membranoproliferative glomerulonephritis |
GARD:17506 |
MONDO:equivalentTo |
Immunoglobulin-mediated membranoproliferative glomerulonephritis |
|
|
MONDO:0862319 |
c3 glomerulopathy |
GARD:17507 |
MONDO:equivalentTo |
C3 glomerulopathy |
|
|
MONDO:0862320 |
generalized juvenile polyposis/juvenile polyposis coli |
GARD:17508 |
MONDO:equivalentTo |
Generalized juvenile polyposis/juvenile polyposis coli |
|
|
MONDO:0862321 |
dnm1l-related encephalopathy due to mitochondrial and peroxisomal fission defect |
GARD:17509 |
MONDO:equivalentTo |
DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect |
|
|
MONDO:0862322 |
actinic prurigo |
GARD:17510 |
MONDO:equivalentTo |
Actinic prurigo |
|
|
MONDO:0862323 |
autosomal recessive severe congenital neutropenia due to g6pc3 deficiency |
GARD:17511 |
MONDO:equivalentTo |
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency |
|
|
MONDO:0862324 |
immunodeficiency due to masp-2 deficiency |
GARD:17512 |
MONDO:equivalentTo |
Immunodeficiency due to MASP-2 deficiency |
|
|
MONDO:0862325 |
immunodeficiency due to ficolin3 deficiency |
GARD:17513 |
MONDO:equivalentTo |
Immunodeficiency due to ficolin3 deficiency |
|
|
MONDO:0862326 |
susceptibility to infection due to tyk2 deficiency |
GARD:17514 |
MONDO:equivalentTo |
Susceptibility to infection due to TYK2 deficiency |
|
|
MONDO:0862327 |
congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome |
GARD:17515 |
MONDO:equivalentTo |
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome |
|
|
MONDO:0862328 |
spectrin-associated autosomal recessive cerebellar ataxia |
GARD:17516 |
MONDO:equivalentTo |
Spectrin-associated autosomal recessive cerebellar ataxia |
|
|
MONDO:0862329 |
progressive external ophthalmoplegia-myopathy-emaciation syndrome |
GARD:17517 |
MONDO:equivalentTo |
Progressive external ophthalmoplegia-myopathy-emaciation syndrome |
|
|
MONDO:0862330 |
dna2-related mitochondrial dna deletion syndrome |
GARD:17518 |
MONDO:equivalentTo |
DNA2-related mitochondrial DNA deletion syndrome |
|
|
MONDO:0862331 |
ispd-related limb-girdle muscular dystrophy r20 |
GARD:17519 |
MONDO:equivalentTo |
ISPD-related limb-girdle muscular dystrophy R20 |
|
|
MONDO:0862332 |
autism spectrum disorder due to auts2 deficiency |
GARD:17520 |
MONDO:equivalentTo |
Autism spectrum disorder due to AUTS2 deficiency |
|
|
MONDO:0862333 |
familial infantile myoclonic epilepsy |
GARD:17521 |
MONDO:equivalentTo |
Familial infantile myoclonic epilepsy |
|
|
MONDO:0862334 |
progressive myoclonic epilepsy with dystonia |
GARD:17522 |
MONDO:equivalentTo |
Progressive myoclonic epilepsy with dystonia |
|
|
MONDO:0862335 |
early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome |
GARD:17523 |
MONDO:equivalentTo |
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome |
|
|
MONDO:0862336 |
hereditary benign intraepithelial dyskeratosis |
GARD:17524 |
MONDO:equivalentTo |
Hereditary benign intraepithelial dyskeratosis |
|
|
MONDO:0862337 |
corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome |
GARD:17525 |
MONDO:equivalentTo |
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome |
|
|
MONDO:0862338 |
cobblestone lissencephaly without muscular or ocular involvement |
GARD:17526 |
MONDO:equivalentTo |
Cobblestone lissencephaly without muscular or ocular involvement |
|
|
MONDO:0862339 |
cln13 disease |
GARD:17527 |
MONDO:equivalentTo |
CLN13 disease |
|
|
MONDO:0862340 |
facial dysmorphism-immunodeficiency-livedo-short stature syndrome |
GARD:17528 |
MONDO:equivalentTo |
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome |
|
|
MONDO:0862341 |
progressive retinal dystrophy due to retinol transport defect |
GARD:17529 |
MONDO:equivalentTo |
Progressive retinal dystrophy due to retinol transport defect |
|
|
MONDO:0862342 |
temperature-sensitive oculocutaneous albinism type 1 |
GARD:17530 |
MONDO:equivalentTo |
Temperature-sensitive oculocutaneous albinism type 1 |
|
|
MONDO:0862343 |
oculocutaneous albinism type 7 |
GARD:17531 |
MONDO:equivalentTo |
Oculocutaneous albinism type 7 |
|
|
MONDO:0862344 |
epileptic encephalopathy with global cerebral demyelination |
GARD:17532 |
MONDO:equivalentTo |
Epileptic encephalopathy with global cerebral demyelination |
|
|
MONDO:0862345 |
familial primary localized cutaneous amyloidosis |
GARD:17533 |
MONDO:equivalentTo |
Familial primary localized cutaneous amyloidosis |
|
|
MONDO:0862346 |
rubinstein-taybi syndrome due to crebbp mutations |
GARD:17534 |
MONDO:equivalentTo |
Rubinstein-Taybi syndrome due to CREBBP mutations |
|
|
MONDO:0862347 |
rubinstein-taybi syndrome due to ep300 haploinsufficiency |
GARD:17535 |
MONDO:equivalentTo |
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency |
|
|
MONDO:0862348 |
pyruvate carboxylase deficiency, infantile type |
GARD:17536 |
MONDO:equivalentTo |
Pyruvate carboxylase deficiency, infantile type |
|
|
MONDO:0862349 |
pyruvate carboxylase deficiency, severe neonatal type |
GARD:17537 |
MONDO:equivalentTo |
Pyruvate carboxylase deficiency, severe neonatal type |
|
|
MONDO:0862350 |
pyruvate carboxylase deficiency, benign type |
GARD:17538 |
MONDO:equivalentTo |
Pyruvate carboxylase deficiency, benign type |
|
|
MONDO:0862351 |
congenital myasthenic syndromes with glycosylation defect |
GARD:17539 |
MONDO:equivalentTo |
Congenital myasthenic syndromes with glycosylation defect |
|
|
MONDO:0862352 |
d,l-2-hydroxyglutaric aciduria |
GARD:17540 |
MONDO:equivalentTo |
D,L-2-hydroxyglutaric aciduria |
|
|
MONDO:0862353 |
ank3-related intellectual disability-sleep disturbance syndrome |
GARD:17541 |
MONDO:equivalentTo |
ANK3-related intellectual disability-sleep disturbance syndrome |
|
|
MONDO:0862354 |
19p13.13 microdeletion syndrome |
GARD:17542 |
MONDO:equivalentTo |
19p13.13 microdeletion syndrome |
|
|
MONDO:0862355 |
hemolytic uremic syndrome with dgke deficiency |
GARD:17543 |
MONDO:equivalentTo |
Hemolytic uremic syndrome with DGKE deficiency |
|
|
MONDO:0862356 |
hereditary retinoblastoma |
GARD:17544 |
MONDO:equivalentTo |
Hereditary retinoblastoma |
|
|
MONDO:0862357 |
non-hereditary retinoblastoma |
GARD:17545 |
MONDO:equivalentTo |
Non-hereditary retinoblastoma |
|
|
MONDO:0862358 |
autosomal recessive cutis laxa type 2, classic type |
GARD:17546 |
MONDO:equivalentTo |
Autosomal recessive cutis laxa type 2, classic type |
|
|
MONDO:0862359 |
mandibulofacial dysostosis-macroblepharon-macrostomia syndrome |
GARD:17547 |
MONDO:equivalentTo |
Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome |
|
|
MONDO:0862360 |
short ulna-dysmorphism-hypotonia-intellectual disability syndrome |
GARD:17548 |
MONDO:equivalentTo |
Short ulna-dysmorphism-hypotonia-intellectual disability syndrome |
|
|
MONDO:0862361 |
severe combined immunodeficiency due to card11 deficiency |
GARD:17549 |
MONDO:equivalentTo |
Severe combined immunodeficiency due to CARD11 deficiency |
|
|
MONDO:0862362 |
combined immunodeficiency due to il21r deficiency |
GARD:17550 |
MONDO:equivalentTo |
Combined immunodeficiency due to IL21R deficiency |
|
|
MONDO:0862363 |
syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome |
GARD:17551 |
MONDO:equivalentTo |
Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome |
|
|
MONDO:0862364 |
severe neurodegenerative syndrome with lipodystrophy |
GARD:17552 |
MONDO:equivalentTo |
Severe neurodegenerative syndrome with lipodystrophy |
|
|
MONDO:0862365 |
fetal akinesia-cerebral and retinal hemorrhage syndrome |
GARD:17553 |
MONDO:equivalentTo |
Fetal akinesia-cerebral and retinal hemorrhage syndrome |
|
|
MONDO:0862366 |
hypomyelination with brain stem and spinal cord involvement and leg spasticity |
GARD:17554 |
MONDO:equivalentTo |
Hypomyelination with brain stem and spinal cord involvement and leg spasticity |
|
|
MONDO:0862367 |
multiple mitochondrial dysfunctions syndrome type 3 |
GARD:17555 |
MONDO:equivalentTo |
Multiple mitochondrial dysfunctions syndrome type 3 |
|
|
MONDO:0862368 |
autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome |
GARD:17556 |
MONDO:equivalentTo |
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome |
|
|
MONDO:0862369 |
autosomal recessive congenital cerebellar ataxia due to grid2 deficiency |
GARD:17557 |
MONDO:equivalentTo |
Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency |
|
|
MONDO:0862370 |
thoc6-related developmental delay-microcephaly-facial dysmorphism syndrome |
GARD:17558 |
MONDO:equivalentTo |
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome |
|
|
MONDO:0862371 |
autosomal dominant childhood-onset proximal spinal muscular atrophy |
GARD:17559 |
MONDO:equivalentTo |
Autosomal dominant childhood-onset proximal spinal muscular atrophy |
|
|
MONDO:0862372 |
testicular teratoma |
GARD:17560 |
MONDO:equivalentTo |
Testicular teratoma |
|
|
MONDO:0862373 |
non-seminomatous germ cell tumor of testis |
GARD:17561 |
MONDO:equivalentTo |
Non-seminomatous germ cell tumor of testis |
|
|
MONDO:0862374 |
hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome |
GARD:17562 |
MONDO:equivalentTo |
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome |
|
|
MONDO:0862375 |
intellectual disability-strabismus syndrome |
GARD:17563 |
MONDO:equivalentTo |
Intellectual disability-strabismus syndrome |
|
|
MONDO:0862376 |
mitochondrial dna depletion syndrome, hepatocerebrorenal form |
GARD:17564 |
MONDO:equivalentTo |
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form |
|
|
MONDO:0862377 |
leukoencephalopathy with mild cerebellar ataxia and white matter edema |
GARD:17565 |
MONDO:equivalentTo |
Leukoencephalopathy with mild cerebellar ataxia and white matter edema |
|
|
MONDO:0862378 |
ctcf-related neurodevelopmental disorder |
GARD:17566 |
MONDO:equivalentTo |
CTCF-related neurodevelopmental disorder |
|
|
MONDO:0862379 |
x-linked parkinsonism-spasticity syndrome |
GARD:17567 |
MONDO:equivalentTo |
X-linked parkinsonism-spasticity syndrome |
|
|
MONDO:0862380 |
childhood-onset autosomal recessive myopathy with external ophthalmoplegia |
GARD:17568 |
MONDO:equivalentTo |
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia |
|
|
MONDO:0862381 |
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome |
GARD:17569 |
MONDO:equivalentTo |
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome |
|
|
MONDO:0862382 |
neurofibromatosis type 1 due to nf1 mutation or intragenic deletion |
GARD:17570 |
MONDO:equivalentTo |
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion |
|
|
MONDO:0862383 |
craniofaciofrontodigital syndrome |
GARD:17571 |
MONDO:equivalentTo |
Craniofaciofrontodigital syndrome |
|
|
MONDO:0862384 |
alexander disease type i |
GARD:17572 |
MONDO:equivalentTo |
Alexander disease type I |
|
|
MONDO:0862385 |
alexander disease type ii |
GARD:17573 |
MONDO:equivalentTo |
Alexander disease type II |
|
|
MONDO:0862386 |
x-linked dyserythropoietic anemia with abnormal platelets and neutropenia |
GARD:17574 |
MONDO:equivalentTo |
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia |
|
|
MONDO:0862387 |
colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome |
GARD:17575 |
MONDO:equivalentTo |
Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome |
|
|
MONDO:0862388 |
17q21.31 microdeletion syndrome |
GARD:17576 |
MONDO:equivalentTo |
17q21.31 microdeletion syndrome |
|
|
MONDO:0862389 |
noonan syndrome-like disorder with juvenile myelomonocytic leukemia |
GARD:17577 |
MONDO:equivalentTo |
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia |
|
|
MONDO:0862390 |
charcot-marie-tooth disease type 4b3 |
GARD:17578 |
MONDO:equivalentTo |
Charcot-Marie-Tooth disease type 4B3 |
|
|
MONDO:0862391 |
ichthyosis-short stature-brachydactyly-microspherophakia syndrome |
GARD:17579 |
MONDO:equivalentTo |
Ichthyosis-short stature-brachydactyly-microspherophakia syndrome |
|
|
MONDO:0862392 |
non-immune hydrops fetalis |
GARD:17580 |
MONDO:equivalentTo |
Non-immune hydrops fetalis |
|
|
MONDO:0862393 |
x-linked intellectual disability due to gria3 mutations |
GARD:17581 |
MONDO:equivalentTo |
X-linked intellectual disability due to GRIA3 mutations |
|
|
MONDO:0862394 |
infantile epileptic-dyskinetic encephalopathy |
GARD:17582 |
MONDO:equivalentTo |
Infantile epileptic-dyskinetic encephalopathy |
|
|
MONDO:0862395 |
intellectual disability-brachydactyly-pierre robin syndrome |
GARD:17583 |
MONDO:equivalentTo |
Intellectual disability-brachydactyly-Pierre Robin syndrome |
|
|
MONDO:0862396 |
intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome |
GARD:17584 |
MONDO:equivalentTo |
Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome |
|
|
MONDO:0862397 |
congenital neutropenia-myelofibrosis-nephromegaly syndrome |
GARD:17585 |
MONDO:equivalentTo |
Congenital neutropenia-myelofibrosis-nephromegaly syndrome |
|
|
MONDO:0862398 |
congenital sideroblastic anemia-b-cell immunodeficiency-periodic fever-developmental delay syndrome |
GARD:17586 |
MONDO:equivalentTo |
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome |
|
|
MONDO:0862399 |
autosomal recessive intermediate charcot-marie-tooth disease type c |
GARD:17587 |
MONDO:equivalentTo |
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C |
|
|
MONDO:0862400 |
developmental delay-facial dysmorphism syndrome due to med13l deficiency |
GARD:17588 |
MONDO:equivalentTo |
Developmental delay-facial dysmorphism syndrome due to MED13L deficiency |
|
|
MONDO:0862401 |
combined oxidative phosphorylation defect type 17 |
GARD:17589 |
MONDO:equivalentTo |
Combined oxidative phosphorylation defect type 17 |
|
|
MONDO:0862402 |
pontocerebellar hypoplasia type 9 |
GARD:17590 |
MONDO:equivalentTo |
Pontocerebellar hypoplasia type 9 |
|
|
MONDO:0862403 |
primary hyperaldosteronism-seizures-neurological abnormalities syndrome |
GARD:17591 |
MONDO:equivalentTo |
Primary hyperaldosteronism-seizures-neurological abnormalities syndrome |
|
|
MONDO:0862404 |
severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome |
GARD:17592 |
MONDO:equivalentTo |
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome |
|
|
MONDO:0862405 |
microcornea-myopic chorioretinal atrophy-telecanthus syndrome |
GARD:17593 |
MONDO:equivalentTo |
Microcornea-myopic chorioretinal atrophy-telecanthus syndrome |
|
|
MONDO:0862406 |
severe dermatitis-multiple allergies-metabolic wasting syndrome |
GARD:17594 |
MONDO:equivalentTo |
Severe dermatitis-multiple allergies-metabolic wasting syndrome |
|
|
MONDO:0862407 |
diffuse palmoplantar keratoderma with painful fissures |
GARD:17595 |
MONDO:equivalentTo |
Diffuse palmoplantar keratoderma with painful fissures |
|
|
MONDO:0862408 |
focal palmoplantar keratoderma with joint keratoses |
GARD:17596 |
MONDO:equivalentTo |
Focal palmoplantar keratoderma with joint keratoses |
|
|
MONDO:0862409 |
ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome |
GARD:17597 |
MONDO:equivalentTo |
Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome |
|
|
MONDO:0862410 |
oculocutaneous albinism type 5 |
GARD:17598 |
MONDO:equivalentTo |
Oculocutaneous albinism type 5 |
|
|
MONDO:0862411 |
oculocutaneous albinism type 6 |
GARD:17599 |
MONDO:equivalentTo |
Oculocutaneous albinism type 6 |
|
|
MONDO:0862412 |
macrophagic myofasciitis |
GARD:176 |
MONDO:equivalentTo |
Macrophagic myofasciitis |
|
|
MONDO:0862413 |
extraskeletal ewing sarcoma |
GARD:17600 |
MONDO:equivalentTo |
Extraskeletal Ewing sarcoma |
|
|
MONDO:0862414 |
peripheral primitive neuroectodermal tumor |
GARD:17601 |
MONDO:equivalentTo |
Peripheral primitive neuroectodermal tumor |
|
|
MONDO:0862415 |
stt3a-cdg |
GARD:17602 |
MONDO:equivalentTo |
STT3A-CDG |
|
|
MONDO:0862416 |
stt3b-cdg |
GARD:17603 |
MONDO:equivalentTo |
STT3B-CDG |
|
|
MONDO:0862417 |
autism spectrum disorder-epilepsy-arthrogryposis syndrome |
GARD:17604 |
MONDO:equivalentTo |
Autism spectrum disorder-epilepsy-arthrogryposis syndrome |
|
|
MONDO:0862418 |
congenital muscular dystrophy with cerebellar involvement |
GARD:17605 |
MONDO:equivalentTo |
Congenital muscular dystrophy with cerebellar involvement |
|
|
MONDO:0862419 |
congenital muscular dystrophy with intellectual disability |
GARD:17606 |
MONDO:equivalentTo |
Congenital muscular dystrophy with intellectual disability |
|
|
MONDO:0862420 |
congenital muscular dystrophy without intellectual disability |
GARD:17607 |
MONDO:equivalentTo |
Congenital muscular dystrophy without intellectual disability |
|
|
MONDO:0862421 |
muscle-eye-brain disease with bilateral multicystic leucodystrophy |
GARD:17608 |
MONDO:equivalentTo |
Muscle-eye-brain disease with bilateral multicystic leucodystrophy |
|
|
MONDO:0862422 |
hypotonia-speech impairment-severe cognitive delay syndrome |
GARD:17609 |
MONDO:equivalentTo |
Hypotonia-speech impairment-severe cognitive delay syndrome |
|
|
MONDO:0862423 |
multicentric osteolysis-nodulosis-arthropathy spectrum |
GARD:17610 |
MONDO:equivalentTo |
Multicentric osteolysis-nodulosis-arthropathy spectrum |
|
|
MONDO:0862424 |
severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome |
GARD:17611 |
MONDO:equivalentTo |
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome |
|
|
MONDO:0862425 |
susceptibility to viral and mycobacterial infections due to stat1 deficiency |
GARD:17612 |
MONDO:equivalentTo |
Susceptibility to viral and mycobacterial infections due to STAT1 deficiency |
|
|
MONDO:0862426 |
east texas bleeding disorder |
GARD:17613 |
MONDO:equivalentTo |
East Texas bleeding disorder |
|
|
MONDO:0862427 |
x-linked osteoporosis with fractures |
GARD:17614 |
MONDO:equivalentTo |
X-linked osteoporosis with fractures |
|
|
MONDO:0862428 |
growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome |
GARD:17615 |
MONDO:equivalentTo |
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome |
|
|
MONDO:0862429 |
surf1-related charcot-marie-tooth disease type 4 |
GARD:17616 |
MONDO:equivalentTo |
SURF1-related Charcot-Marie-Tooth disease type 4 |
|
|
MONDO:0862430 |
congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome |
GARD:17617 |
MONDO:equivalentTo |
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome |
|
|
MONDO:0862431 |
familial episodic pain syndrome with predominantly upper body involvement |
GARD:17618 |
MONDO:equivalentTo |
Familial episodic pain syndrome with predominantly upper body involvement |
|
|
MONDO:0862432 |
familial episodic pain syndrome with predominantly lower limb involvement |
GARD:17619 |
MONDO:equivalentTo |
Familial episodic pain syndrome with predominantly lower limb involvement |
|
|
MONDO:0862433 |
primary microcephaly-mild intellectual disability-young-onset diabetes syndrome |
GARD:17620 |
MONDO:equivalentTo |
Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome |
|
|
MONDO:0862434 |
atypical juvenile parkinsonism |
GARD:17621 |
MONDO:equivalentTo |
Atypical juvenile parkinsonism |
|
|
MONDO:0862435 |
hsd10 disease, infantile type |
GARD:17622 |
MONDO:equivalentTo |
HSD10 disease, infantile type |
|
|
MONDO:0862436 |
hsd10 disease, neonatal type |
GARD:17623 |
MONDO:equivalentTo |
HSD10 disease, neonatal type |
|
|
MONDO:0862437 |
feingold syndrome type 1 |
GARD:17624 |
MONDO:equivalentTo |
Feingold syndrome type 1 |
|
|
MONDO:0862438 |
feingold syndrome type 2 |
GARD:17625 |
MONDO:equivalentTo |
Feingold syndrome type 2 |
|
|
MONDO:0862439 |
multiple acyl-coa dehydrogenase deficiency, severe neonatal type |
GARD:17626 |
MONDO:equivalentTo |
Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type |
|
|
MONDO:0862440 |
multiple acyl-coa dehydrogenase deficiency, mild type |
GARD:17627 |
MONDO:equivalentTo |
Multiple acyl-CoA dehydrogenase deficiency, mild type |
|
|
MONDO:0862441 |
silver-russell syndrome due to a point mutation |
GARD:17628 |
MONDO:equivalentTo |
Silver-Russell syndrome due to a point mutation |
|
|
MONDO:0862442 |
severe neonatal lactic acidosis due to nfs1-isd11 complex deficiency |
GARD:17629 |
MONDO:equivalentTo |
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency |
|
|
MONDO:0862443 |
macrocephaly-developmental delay syndrome |
GARD:17630 |
MONDO:equivalentTo |
Macrocephaly-developmental delay syndrome |
|
|
MONDO:0862444 |
obesity due to cep19 deficiency |
GARD:17631 |
MONDO:equivalentTo |
Obesity due to CEP19 deficiency |
|
|
MONDO:0862445 |
foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome |
GARD:17632 |
MONDO:equivalentTo |
Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome |
|
|
MONDO:0862446 |
short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome |
GARD:17633 |
MONDO:equivalentTo |
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome |
|
|
MONDO:0862447 |
familial hyperprolactinemia |
GARD:17634 |
MONDO:equivalentTo |
Familial hyperprolactinemia |
|
|
MONDO:0862448 |
hereditary isolated aplastic anemia |
GARD:17635 |
MONDO:equivalentTo |
Hereditary isolated aplastic anemia |
|
|
MONDO:0862449 |
intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome |
GARD:17636 |
MONDO:equivalentTo |
Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome |
|
|
MONDO:0862450 |
joubert syndrome with jeune asphyxiating thoracic dystrophy |
GARD:17637 |
MONDO:equivalentTo |
Joubert syndrome with Jeune asphyxiating thoracic dystrophy |
|
|
MONDO:0862451 |
autosomal dominant charcot-marie-tooth disease type 2u |
GARD:17638 |
MONDO:equivalentTo |
Autosomal dominant Charcot-Marie-Tooth disease type 2U |
|
|
MONDO:0862452 |
peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome |
GARD:17639 |
MONDO:equivalentTo |
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome |
|
|
MONDO:0862453 |
retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies |
GARD:17640 |
MONDO:equivalentTo |
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies |
|
|
MONDO:0862454 |
severe combined immunodeficiency due to ikk2 deficiency |
GARD:17641 |
MONDO:equivalentTo |
Severe combined immunodeficiency due to IKK2 deficiency |
|
|
MONDO:0862455 |
sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome |
GARD:17642 |
MONDO:equivalentTo |
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome |
|
|
MONDO:0862456 |
polyglucosan body myopathy type 1 |
GARD:17643 |
MONDO:equivalentTo |
Polyglucosan body myopathy type 1 |
|
|
MONDO:0862457 |
autosomal spastic paraplegia type 58 |
GARD:17644 |
MONDO:equivalentTo |
Autosomal spastic paraplegia type 58 |
|
|
MONDO:0862458 |
microcephaly-thin corpus callosum-intellectual disability syndrome |
GARD:17645 |
MONDO:equivalentTo |
Microcephaly-thin corpus callosum-intellectual disability syndrome |
|
|
MONDO:0862459 |
tcr-alpha-beta-positive t-cell deficiency |
GARD:17646 |
MONDO:equivalentTo |
TCR-alpha-beta-positive T-cell deficiency |
|
|
MONDO:0862460 |
combined immunodeficiency due to malt1 deficiency |
GARD:17647 |
MONDO:equivalentTo |
Combined immunodeficiency due to MALT1 deficiency |
|
|
MONDO:0862461 |
intellectual disability-obesity-prognathism-eye and skin anomalies syndrome |
GARD:17648 |
MONDO:equivalentTo |
Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome |
|
|
MONDO:0862462 |
focal facial dermal dysplasia type ii |
GARD:17649 |
MONDO:equivalentTo |
Focal facial dermal dysplasia type II |
|
|
MONDO:0862463 |
focal facial dermal dysplasia type iv |
GARD:17650 |
MONDO:equivalentTo |
Focal facial dermal dysplasia type IV |
|
|
MONDO:0862464 |
alpha-b crystallin-related late-onset myopathy |
GARD:17651 |
MONDO:equivalentTo |
Alpha-B crystallin-related late-onset myopathy |
|
|
MONDO:0862465 |
finnish upper limb-onset distal myopathy |
GARD:17652 |
MONDO:equivalentTo |
Finnish upper limb-onset distal myopathy |
|
|
MONDO:0862466 |
distal anoctaminopathy |
GARD:17653 |
MONDO:equivalentTo |
Distal anoctaminopathy |
|
|
MONDO:0862467 |
male infertility with teratozoospermia due to single gene mutation |
GARD:17654 |
MONDO:equivalentTo |
Male infertility with teratozoospermia due to single gene mutation |
|
|
MONDO:0862468 |
pancytopenia-developmental delay syndrome |
GARD:17655 |
MONDO:equivalentTo |
Pancytopenia-developmental delay syndrome |
|
|
MONDO:0862469 |
autosomal recessive spastic paraplegia type 61 |
GARD:17656 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 61 |
|
|
MONDO:0862470 |
autosomal recessive spastic paraplegia type 62 |
GARD:17657 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 62 |
|
|
MONDO:0862471 |
autosomal recessive spastic paraplegia type 63 |
GARD:17658 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 63 |
|
|
MONDO:0862472 |
autosomal recessive spastic paraplegia type 64 |
GARD:17659 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 64 |
|
|
MONDO:0862473 |
autosomal spastic paraplegia type 72 |
GARD:17660 |
MONDO:equivalentTo |
Autosomal spastic paraplegia type 72 |
|
|
MONDO:0862474 |
multiple mitochondrial dysfunctions syndrome type 1 |
GARD:17661 |
MONDO:equivalentTo |
Multiple mitochondrial dysfunctions syndrome type 1 |
|
|
MONDO:0862475 |
multiple mitochondrial dysfunctions syndrome type 2 |
GARD:17662 |
MONDO:equivalentTo |
Multiple mitochondrial dysfunctions syndrome type 2 |
|
|
MONDO:0862476 |
familial median cleft of the upper and lower lips |
GARD:17663 |
MONDO:equivalentTo |
Familial median cleft of the upper and lower lips |
|
|
MONDO:0862477 |
moyamoya disease with early-onset achalasia |
GARD:17664 |
MONDO:equivalentTo |
Moyamoya disease with early-onset achalasia |
|
|
MONDO:0862478 |
episodic ataxia with slurred speech |
GARD:17665 |
MONDO:equivalentTo |
Episodic ataxia with slurred speech |
|
|
MONDO:0862479 |
mend syndrome |
GARD:17666 |
MONDO:equivalentTo |
MEND syndrome |
|
|
MONDO:0862480 |
autosomal recessive spondylometaphyseal dysplasia, mégarbané type |
GARD:17667 |
MONDO:equivalentTo |
Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type |
|
|
MONDO:0862481 |
1p31p32 microdeletion syndrome |
GARD:17668 |
MONDO:equivalentTo |
1p31p32 microdeletion syndrome |
|
|
MONDO:0862482 |
autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering |
GARD:17669 |
MONDO:equivalentTo |
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering |
|
|
MONDO:0862483 |
familial bicuspid aortic valve |
GARD:17670 |
MONDO:equivalentTo |
Familial bicuspid aortic valve |
|
|
MONDO:0862484 |
progressive myoclonic epilepsy type 5 |
GARD:17671 |
MONDO:equivalentTo |
Progressive myoclonic epilepsy type 5 |
|
|
MONDO:0862485 |
diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome |
GARD:17672 |
MONDO:equivalentTo |
Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome |
|
|
MONDO:0862486 |
intellectual disability-facial dysmorphism syndrome due to setd5 haploinsufficiency |
GARD:17673 |
MONDO:equivalentTo |
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency |
|
|
MONDO:0862487 |
tatton-brown-rahman syndrome |
GARD:17674 |
MONDO:equivalentTo |
Tatton-Brown-Rahman syndrome |
|
|
MONDO:0862488 |
female infertility due to zona pellucida defect |
GARD:17675 |
MONDO:equivalentTo |
Female infertility due to zona pellucida defect |
|
|
MONDO:0862489 |
global developmental delay-lung cysts-overgrowth-wilms tumor syndrome |
GARD:17676 |
MONDO:equivalentTo |
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome |
|
|
MONDO:0862490 |
autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to tud deficiency |
GARD:17677 |
MONDO:equivalentTo |
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency |
|
|
MONDO:0862491 |
autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to rubcn deficiency |
GARD:17678 |
MONDO:equivalentTo |
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency |
|
|
MONDO:0862492 |
ditra |
GARD:17679 |
MONDO:equivalentTo |
DITRA |
|
|
MONDO:0862493 |
pontocerebellar hypoplasia type 10 |
GARD:17680 |
MONDO:equivalentTo |
Pontocerebellar hypoplasia type 10 |
|
|
MONDO:0862494 |
mild phosphoribosylpyrophosphate synthetase superactivity |
GARD:17681 |
MONDO:equivalentTo |
Mild phosphoribosylpyrophosphate synthetase superactivity |
|
|
MONDO:0862495 |
severe phosphoribosylpyrophosphate synthetase superactivity |
GARD:17682 |
MONDO:equivalentTo |
Severe phosphoribosylpyrophosphate synthetase superactivity |
|
|
MONDO:0862496 |
wolfram-like syndrome |
GARD:17683 |
MONDO:equivalentTo |
Wolfram-like syndrome |
|
|
MONDO:0862497 |
hereditary late-onset parkinson disease |
GARD:17684 |
MONDO:equivalentTo |
Hereditary late-onset Parkinson disease |
|
|
MONDO:0862498 |
juvenile nephropathic cystinosis |
GARD:17685 |
MONDO:equivalentTo |
Juvenile nephropathic cystinosis |
|
|
MONDO:0862499 |
maternal riboflavin deficiency |
GARD:17686 |
MONDO:equivalentTo |
Maternal riboflavin deficiency |
|
|
MONDO:0862500 |
early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome |
GARD:17687 |
MONDO:equivalentTo |
Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome |
|
|
MONDO:0862501 |
facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome |
GARD:17688 |
MONDO:equivalentTo |
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome |
|
|
MONDO:0862502 |
autosomal recessive cerebellar ataxia due to stub1 deficiency |
GARD:17689 |
MONDO:equivalentTo |
Autosomal recessive cerebellar ataxia due to STUB1 deficiency |
|
|
MONDO:0862503 |
epidermolysis bullosa simplex due to bp230 deficiency |
GARD:17690 |
MONDO:equivalentTo |
Epidermolysis bullosa simplex due to BP230 deficiency |
|
|
MONDO:0862504 |
epidermolysis bullosa simplex due to exophilin 5 deficiency |
GARD:17691 |
MONDO:equivalentTo |
Epidermolysis bullosa simplex due to exophilin 5 deficiency |
|
|
MONDO:0862505 |
primary failure of tooth eruption |
GARD:17692 |
MONDO:equivalentTo |
Primary failure of tooth eruption |
|
|
MONDO:0862506 |
cranio-cervical dystonia with laryngeal and upper-limb involvement |
GARD:17693 |
MONDO:equivalentTo |
Cranio-cervical dystonia with laryngeal and upper-limb involvement |
|
|
MONDO:0862507 |
adult-onset cervical dystonia, dyt23 type |
GARD:17694 |
MONDO:equivalentTo |
Adult-onset cervical dystonia, DYT23 type |
|
|
MONDO:0862508 |
bleeding disorder due to caldag-gefi deficiency |
GARD:17695 |
MONDO:equivalentTo |
Bleeding disorder due to CalDAG-GEFI deficiency |
|
|
MONDO:0862509 |
severe combined immunodeficiency due to ctps1 deficiency |
GARD:17696 |
MONDO:equivalentTo |
Severe combined immunodeficiency due to CTPS1 deficiency |
|
|
MONDO:0862510 |
woolly hair-palmoplantar keratoderma syndrome |
GARD:17697 |
MONDO:equivalentTo |
Woolly hair-palmoplantar keratoderma syndrome |
|
|
MONDO:0862511 |
autosomal recessive severe congenital neutropenia due to csf3r deficiency |
GARD:17698 |
MONDO:equivalentTo |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency |
|
|
MONDO:0862512 |
combined oxidative phosphorylation defect type 20 |
GARD:17699 |
MONDO:equivalentTo |
Combined oxidative phosphorylation defect type 20 |
|
|
MONDO:0862513 |
macrosomia-microphthalmia-cleft palate syndrome |
GARD:177 |
MONDO:equivalentTo |
Macrosomia-microphthalmia-cleft palate syndrome |
|
|
MONDO:0862514 |
combined oxidative phosphorylation defect type 21 |
GARD:17700 |
MONDO:equivalentTo |
Combined oxidative phosphorylation defect type 21 |
|
|
MONDO:0862515 |
riddle syndrome |
GARD:17701 |
MONDO:equivalentTo |
RIDDLE syndrome |
|
|
MONDO:0862516 |
autosomal recessive severe congenital neutropenia due to jagn1 deficiency |
GARD:17702 |
MONDO:equivalentTo |
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency |
|
|
MONDO:0862517 |
nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome |
GARD:17703 |
MONDO:equivalentTo |
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome |
|
|
MONDO:0862518 |
mucolipidosis type iii alpha/beta |
GARD:17704 |
MONDO:equivalentTo |
Mucolipidosis type III alpha/beta |
|
|
MONDO:0862519 |
mucolipidosis type iii gamma |
GARD:17705 |
MONDO:equivalentTo |
Mucolipidosis type III gamma |
|
|
MONDO:0862520 |
progressive myoclonic epilepsy type 8 |
GARD:17706 |
MONDO:equivalentTo |
Progressive myoclonic epilepsy type 8 |
|
|
MONDO:0862521 |
colobomatous microphthalmia-rhizomelic dysplasia syndrome |
GARD:17707 |
MONDO:equivalentTo |
Colobomatous microphthalmia-rhizomelic dysplasia syndrome |
|
|
MONDO:0862522 |
tor1aip1-related limb-girdle muscular dystrophy |
GARD:17708 |
MONDO:equivalentTo |
TOR1AIP1-related limb-girdle muscular dystrophy |
|
|
MONDO:0862523 |
x-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome |
GARD:17709 |
MONDO:equivalentTo |
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome |
|
|
MONDO:0862524 |
combined immunodeficiency due to ox40 deficiency |
GARD:17710 |
MONDO:equivalentTo |
Combined immunodeficiency due to OX40 deficiency |
|
|
MONDO:0862525 |
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
GARD:17711 |
MONDO:equivalentTo |
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
|
|
MONDO:0862526 |
autosomal recessive spastic paraplegia type 57 |
GARD:17712 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 57 |
|
|
MONDO:0862527 |
familial ossifying fibroma |
GARD:17713 |
MONDO:equivalentTo |
Familial ossifying fibroma |
|
|
MONDO:0862528 |
autosomal dominant charcot-marie-tooth disease type 2y |
GARD:17714 |
MONDO:equivalentTo |
Autosomal dominant Charcot-Marie-Tooth disease type 2Y |
|
|
MONDO:0862529 |
progressive myoclonic epilepsy type 7 |
GARD:17715 |
MONDO:equivalentTo |
Progressive myoclonic epilepsy type 7 |
|
|
MONDO:0862530 |
keppen-lubinsky syndrome |
GARD:17716 |
MONDO:equivalentTo |
Keppen-Lubinsky syndrome |
|
|
MONDO:0862531 |
short stature-advanced bone age-early-onset osteoarthritis syndrome |
GARD:17717 |
MONDO:equivalentTo |
Short stature-advanced bone age-early-onset osteoarthritis syndrome |
|
|
MONDO:0862532 |
lethal neonatal spasticity-epileptic encephalopathy syndrome |
GARD:17718 |
MONDO:equivalentTo |
Lethal neonatal spasticity-epileptic encephalopathy syndrome |
|
|
MONDO:0862533 |
colobomatous optic disc-macular atrophy-chorioretinopathy syndrome |
GARD:17719 |
MONDO:equivalentTo |
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome |
|
|
MONDO:0862534 |
cog2-cdg |
GARD:17720 |
MONDO:equivalentTo |
COG2-CDG |
|
|
MONDO:0862535 |
x-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome |
GARD:17721 |
MONDO:equivalentTo |
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome |
|
|
MONDO:0862536 |
progeroid features-hepatocellular carcinoma predisposition syndrome |
GARD:17722 |
MONDO:equivalentTo |
Progeroid features-hepatocellular carcinoma predisposition syndrome |
|
|
MONDO:0862537 |
autosomal recessive intermediate charcot-marie-tooth disease type d |
GARD:17723 |
MONDO:equivalentTo |
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D |
|
|
MONDO:0862538 |
intellectual disability-expressive aphasia-facial dysmorphism syndrome |
GARD:17724 |
MONDO:equivalentTo |
Intellectual disability-expressive aphasia-facial dysmorphism syndrome |
|
|
MONDO:0862539 |
periodic fever-infantile enterocolitis-autoinflammatory syndrome |
GARD:17725 |
MONDO:equivalentTo |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome |
|
|
MONDO:0862540 |
thrombomodulin-related bleeding disorder |
GARD:17726 |
MONDO:equivalentTo |
Thrombomodulin-related bleeding disorder |
|
|
MONDO:0862541 |
cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome |
GARD:17727 |
MONDO:equivalentTo |
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome |
|
|
MONDO:0862542 |
microcephalic primordial dwarfism-insulin resistance syndrome |
GARD:17728 |
MONDO:equivalentTo |
Microcephalic primordial dwarfism-insulin resistance syndrome |
|
|
MONDO:0862543 |
familial atrial tachyarrhythmia-infra-hisian cardiac conduction disease |
GARD:17729 |
MONDO:equivalentTo |
Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease |
|
|
MONDO:0862544 |
retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome |
GARD:17730 |
MONDO:equivalentTo |
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome |
|
|
MONDO:0862545 |
combined immunodeficiency-enteropathy spectrum |
GARD:17731 |
MONDO:equivalentTo |
Combined immunodeficiency-enteropathy spectrum |
|
|
MONDO:0862546 |
autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity |
GARD:17732 |
MONDO:equivalentTo |
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity |
|
|
MONDO:0862547 |
ketoacidosis due to monocarboxylate transporter-1 deficiency |
GARD:17733 |
MONDO:equivalentTo |
Ketoacidosis due to monocarboxylate transporter-1 deficiency |
|
|
MONDO:0862548 |
rars-related autosomal recessive hypomyelinating leukodystrophy |
GARD:17734 |
MONDO:equivalentTo |
RARS-related autosomal recessive hypomyelinating leukodystrophy |
|
|
MONDO:0862549 |
steel syndrome |
GARD:17735 |
MONDO:equivalentTo |
Steel syndrome |
|
|
MONDO:0862550 |
pcna-related progressive neurodegenerative photosensitivity syndrome |
GARD:17736 |
MONDO:equivalentTo |
PCNA-related progressive neurodegenerative photosensitivity syndrome |
|
|
MONDO:0862551 |
stat3-related early-onset multisystem autoimmune disease |
GARD:17737 |
MONDO:equivalentTo |
STAT3-related early-onset multisystem autoimmune disease |
|
|
MONDO:0862552 |
severe autosomal recessive macrothrombocytopenia |
GARD:17738 |
MONDO:equivalentTo |
Severe autosomal recessive macrothrombocytopenia |
|
|
MONDO:0862553 |
pura-related severe neonatal hypotonia-seizures-encephalopathy syndrome |
GARD:17739 |
MONDO:equivalentTo |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |
|
|
MONDO:0862554 |
pura-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation |
GARD:17740 |
MONDO:equivalentTo |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation |
|
|
MONDO:0862555 |
itm2b amyloidosis |
GARD:17741 |
MONDO:equivalentTo |
ITM2B amyloidosis |
|
|
MONDO:0862556 |
pde4d haploinsufficiency syndrome |
GARD:17742 |
MONDO:equivalentTo |
PDE4D haploinsufficiency syndrome |
|
|
MONDO:0862557 |
lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome |
GARD:17743 |
MONDO:equivalentTo |
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome |
|
|
MONDO:0862558 |
interstitial lung disease due to sp-c deficiency |
GARD:17744 |
MONDO:equivalentTo |
Interstitial lung disease due to SP-C deficiency |
|
|
MONDO:0862559 |
interstitial lung disease due to abca3 deficiency |
GARD:17745 |
MONDO:equivalentTo |
Interstitial lung disease due to ABCA3 deficiency |
|
|
MONDO:0862560 |
severe early-onset pulmonary alveolar proteinosis due to mars deficiency |
GARD:17746 |
MONDO:equivalentTo |
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency |
|
|
MONDO:0862561 |
ribose-5-p isomerase deficiency |
GARD:17747 |
MONDO:equivalentTo |
Ribose-5-P isomerase deficiency |
|
|
MONDO:0862562 |
l-ferritin deficiency |
GARD:17748 |
MONDO:equivalentTo |
L-ferritin deficiency |
|
|
MONDO:0862563 |
sporadic porphyria cutanea tarda |
GARD:17749 |
MONDO:equivalentTo |
Sporadic porphyria cutanea tarda |
|
|
MONDO:0862564 |
familial porphyria cutanea tarda |
GARD:17750 |
MONDO:equivalentTo |
Familial porphyria cutanea tarda |
|
|
MONDO:0862565 |
charcot-marie-tooth disease type 2s |
GARD:17751 |
MONDO:equivalentTo |
Charcot-Marie-Tooth disease type 2S |
|
|
MONDO:0862566 |
46,xy disorder of sex development due to testicular 17,20-desmolase deficiency |
GARD:17752 |
MONDO:equivalentTo |
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency |
|
|
MONDO:0862567 |
hyperostosis cranialis interna |
GARD:17753 |
MONDO:equivalentTo |
Hyperostosis cranialis interna |
|
|
MONDO:0862568 |
classic stiff person syndrome |
GARD:17754 |
MONDO:equivalentTo |
Classic stiff person syndrome |
|
|
MONDO:0862569 |
x-linked erythropoietic protoporphyria |
GARD:17755 |
MONDO:equivalentTo |
X-linked erythropoietic protoporphyria |
|
|
MONDO:0862570 |
focal stiff limb syndrome |
GARD:17756 |
MONDO:equivalentTo |
Focal stiff limb syndrome |
|
|
MONDO:0862571 |
ventriculomegaly-cystic kidney disease |
GARD:17757 |
MONDO:equivalentTo |
Ventriculomegaly-cystic kidney disease |
|
|
MONDO:0862572 |
mandibulofacial dysostosis with alopecia |
GARD:17758 |
MONDO:equivalentTo |
Mandibulofacial dysostosis with alopecia |
|
|
MONDO:0862573 |
combined oxidative phosphorylation defect type 23 |
GARD:17759 |
MONDO:equivalentTo |
Combined oxidative phosphorylation defect type 23 |
|
|
MONDO:0862574 |
46,xx ovarian dysgenesis-short stature syndrome |
GARD:17760 |
MONDO:equivalentTo |
46,XX ovarian dysgenesis-short stature syndrome |
|
|
MONDO:0862575 |
cerebellar-facial-dental syndrome |
GARD:17761 |
MONDO:equivalentTo |
Cerebellar-facial-dental syndrome |
|
|
MONDO:0862576 |
autoimmune interstitial lung disease-arthritis syndrome |
GARD:17762 |
MONDO:equivalentTo |
Autoimmune interstitial lung disease-arthritis syndrome |
|
|
MONDO:0862577 |
autosomal dominant spastic paraplegia type 73 |
GARD:17763 |
MONDO:equivalentTo |
Autosomal dominant spastic paraplegia type 73 |
|
|
MONDO:0862578 |
peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome |
GARD:17764 |
MONDO:equivalentTo |
Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome |
|
|
MONDO:0862579 |
combined oxidative phosphorylation defect type 24 |
GARD:17765 |
MONDO:equivalentTo |
Combined oxidative phosphorylation defect type 24 |
|
|
MONDO:0862580 |
autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome |
GARD:17766 |
MONDO:equivalentTo |
Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome |
|
|
MONDO:0862581 |
3-methylglutaconic aciduria type 7 |
GARD:17767 |
MONDO:equivalentTo |
3-methylglutaconic aciduria type 7 |
|
|
MONDO:0862582 |
juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome |
GARD:17768 |
MONDO:equivalentTo |
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome |
|
|
MONDO:0862583 |
limb-girdle muscular dystrophy due to pomk deficiency |
GARD:17769 |
MONDO:equivalentTo |
Limb-girdle muscular dystrophy due to POMK deficiency |
|
|
MONDO:0862584 |
autosomal recessive spastic paraplegia type 9b |
GARD:17770 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 9B |
|
|
MONDO:0862585 |
mitochondrial pyruvate carrier deficiency |
GARD:17771 |
MONDO:equivalentTo |
Mitochondrial pyruvate carrier deficiency |
|
|
MONDO:0862586 |
polymerase proofreading-related adenomatous polyposis |
GARD:17772 |
MONDO:equivalentTo |
Polymerase proofreading-related adenomatous polyposis |
|
|
MONDO:0862587 |
hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome |
GARD:17773 |
MONDO:equivalentTo |
Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome |
|
|
MONDO:0862588 |
tremor-ataxia-central hypomyelination syndrome |
GARD:17774 |
MONDO:equivalentTo |
Tremor-ataxia-central hypomyelination syndrome |
|
|
MONDO:0862589 |
combined oxidative phosphorylation defect type 25 |
GARD:17775 |
MONDO:equivalentTo |
Combined oxidative phosphorylation defect type 25 |
|
|
MONDO:0862590 |
pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome |
GARD:17776 |
MONDO:equivalentTo |
Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome |
|
|
MONDO:0862591 |
autosomal dominant charcot-marie-tooth disease type 2v |
GARD:17777 |
MONDO:equivalentTo |
Autosomal dominant Charcot-Marie-Tooth disease type 2V |
|
|
MONDO:0862592 |
klippel-feil anomaly-myopathy-facial dysmorphism syndrome |
GARD:17778 |
MONDO:equivalentTo |
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome |
|
|
MONDO:0862593 |
progressive scapulohumeroperoneal distal myopathy |
GARD:17779 |
MONDO:equivalentTo |
Progressive scapulohumeroperoneal distal myopathy |
|
|
MONDO:0862594 |
progressive autosomal recessive ataxia-deafness syndrome |
GARD:17780 |
MONDO:equivalentTo |
Progressive autosomal recessive ataxia-deafness syndrome |
|
|
MONDO:0862595 |
isolated focal non-epidermolytic palmoplantar keratoderma |
GARD:17781 |
MONDO:equivalentTo |
Isolated focal non-epidermolytic palmoplantar keratoderma |
|
|
MONDO:0862596 |
regressive spondylometaphyseal dysplasia |
GARD:17782 |
MONDO:equivalentTo |
Regressive spondylometaphyseal dysplasia |
|
|
MONDO:0862597 |
symptomatic form of fragile x syndrome in female carriers |
GARD:17783 |
MONDO:equivalentTo |
Symptomatic form of fragile X syndrome in female carriers |
|
|
MONDO:0862598 |
familial congenital nasolacrimal duct obstruction |
GARD:17784 |
MONDO:equivalentTo |
Familial congenital nasolacrimal duct obstruction |
|
|
MONDO:0862599 |
neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome |
GARD:17785 |
MONDO:equivalentTo |
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome |
|
|
MONDO:0862600 |
autosomal recessive cerebellar ataxia due to cwf19l1 deficiency |
GARD:17786 |
MONDO:equivalentTo |
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency |
|
|
MONDO:0862601 |
polyendocrine-polyneuropathy syndrome |
GARD:17787 |
MONDO:equivalentTo |
Polyendocrine-polyneuropathy syndrome |
|
|
MONDO:0862602 |
acquired creutzfeldt-jakob disease |
GARD:17788 |
MONDO:equivalentTo |
Acquired Creutzfeldt-Jakob disease |
|
|
MONDO:0862603 |
pleomorphic salivary gland adenoma |
GARD:17789 |
MONDO:equivalentTo |
Pleomorphic salivary gland adenoma |
|
|
MONDO:0862604 |
nthl1-related attenuated familial adenomatous polyposis |
GARD:17790 |
MONDO:equivalentTo |
NTHL1-related attenuated familial adenomatous polyposis |
|
|
MONDO:0862605 |
infantile multisystem neurologic-endocrine-pancreatic disease |
GARD:17791 |
MONDO:equivalentTo |
Infantile multisystem neurologic-endocrine-pancreatic disease |
|
|
MONDO:0862606 |
x-linked myotubular myopathy-abnormal genitalia syndrome |
GARD:17792 |
MONDO:equivalentTo |
X-linked myotubular myopathy-abnormal genitalia syndrome |
|
|
MONDO:0862607 |
polyglucosan body myopathy type 2 |
GARD:17793 |
MONDO:equivalentTo |
Polyglucosan body myopathy type 2 |
|
|
MONDO:0862608 |
autosomal dominant mitochondrial myopathy with exercise intolerance |
GARD:17794 |
MONDO:equivalentTo |
Autosomal dominant mitochondrial myopathy with exercise intolerance |
|
|
MONDO:0862609 |
predisposition to invasive fungal disease due to card9 deficiency |
GARD:17795 |
MONDO:equivalentTo |
Predisposition to invasive fungal disease due to CARD9 deficiency |
|
|
MONDO:0862610 |
neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome |
GARD:17796 |
MONDO:equivalentTo |
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome |
|
|
MONDO:0862611 |
autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
GARD:17797 |
MONDO:equivalentTo |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
|
|
MONDO:0862612 |
progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome |
GARD:17798 |
MONDO:equivalentTo |
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome |
|
|
MONDO:0862613 |
syndromic sensorineural deafness due to combined oxidative phosphorylation defect |
GARD:17799 |
MONDO:equivalentTo |
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect |
|
|
MONDO:0862614 |
momo syndrome |
GARD:178 |
MONDO:equivalentTo |
MOMO syndrome |
|
|
MONDO:0862615 |
x-linked intellectual disability-short stature-overweight syndrome |
GARD:17800 |
MONDO:equivalentTo |
X-linked intellectual disability-short stature-overweight syndrome |
|
|
MONDO:0862616 |
progressive myoclonic epilepsy type 9 |
GARD:17801 |
MONDO:equivalentTo |
Progressive myoclonic epilepsy type 9 |
|
|
MONDO:0862617 |
intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome |
GARD:17802 |
MONDO:equivalentTo |
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome |
|
|
MONDO:0862618 |
microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome |
GARD:17803 |
MONDO:equivalentTo |
Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome |
|
|
MONDO:0862619 |
microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome |
GARD:17804 |
MONDO:equivalentTo |
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome |
|
|
MONDO:0862620 |
megalencephaly-severe kyphoscoliosis-overgrowth syndrome |
GARD:17805 |
MONDO:equivalentTo |
Megalencephaly-severe kyphoscoliosis-overgrowth syndrome |
|
|
MONDO:0862621 |
itpa-related lethal infantile neurological disorder with cataract and cardiac involvement |
GARD:17806 |
MONDO:equivalentTo |
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement |
|
|
MONDO:0862622 |
complex lethal osteochondrodysplasia |
GARD:17807 |
MONDO:equivalentTo |
Complex lethal osteochondrodysplasia |
|
|
MONDO:0862623 |
progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome |
GARD:17808 |
MONDO:equivalentTo |
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome |
|
|
MONDO:0862624 |
multiple mitochondrial dysfunctions syndrome type 4 |
GARD:17809 |
MONDO:equivalentTo |
Multiple mitochondrial dysfunctions syndrome type 4 |
|
|
MONDO:0862625 |
spinocerebellar ataxia type 41 |
GARD:17810 |
MONDO:equivalentTo |
Spinocerebellar ataxia type 41 |
|
|
MONDO:0862626 |
spinocerebellar ataxia type 42 |
GARD:17811 |
MONDO:equivalentTo |
Spinocerebellar ataxia type 42 |
|
|
MONDO:0862627 |
spondyloepiphyseal dysplasia, stanescu type |
GARD:17812 |
MONDO:equivalentTo |
Spondyloepiphyseal dysplasia, Stanescu type |
|
|
MONDO:0862628 |
autosomal recessive spastic paraplegia type 75 |
GARD:17813 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 75 |
|
|
MONDO:0862629 |
craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome |
GARD:17814 |
MONDO:equivalentTo |
Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome |
|
|
MONDO:0862630 |
x-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome |
GARD:17815 |
MONDO:equivalentTo |
X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome |
|
|
MONDO:0862631 |
spastic paraplegia-severe developmental delay-epilepsy syndrome |
GARD:17816 |
MONDO:equivalentTo |
Spastic paraplegia-severe developmental delay-epilepsy syndrome |
|
|
MONDO:0862632 |
short stature-brachydactyly-obesity-global developmental delay syndrome |
GARD:17817 |
MONDO:equivalentTo |
Short stature-brachydactyly-obesity-global developmental delay syndrome |
|
|
MONDO:0862633 |
nek9-related lethal skeletal dysplasia |
GARD:17818 |
MONDO:equivalentTo |
NEK9-related lethal skeletal dysplasia |
|
|
MONDO:0862634 |
primary dystonia, dyt27 type |
GARD:17819 |
MONDO:equivalentTo |
Primary dystonia, DYT27 type |
|
|
MONDO:0862635 |
fever-associated acute infantile liver failure syndrome |
GARD:17820 |
MONDO:equivalentTo |
Fever-associated acute infantile liver failure syndrome |
|
|
MONDO:0862636 |
basel-vanagaite-smirin-yosef syndrome |
GARD:17821 |
MONDO:equivalentTo |
Basel-Vanagaite-Smirin-Yosef syndrome |
|
|
MONDO:0862637 |
familial cavitary optic disc anomaly |
GARD:17822 |
MONDO:equivalentTo |
Familial cavitary optic disc anomaly |
|
|
MONDO:0862638 |
fetal encasement syndrome |
GARD:17823 |
MONDO:equivalentTo |
Fetal encasement syndrome |
|
|
MONDO:0862639 |
severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome |
GARD:17824 |
MONDO:equivalentTo |
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome |
|
|
MONDO:0862640 |
tmem199-cdg |
GARD:17825 |
MONDO:equivalentTo |
TMEM199-CDG |
|
|
MONDO:0862641 |
martinique crinkled retinal pigment epitheliopathy |
GARD:17826 |
MONDO:equivalentTo |
Martinique crinkled retinal pigment epitheliopathy |
|
|
MONDO:0862642 |
autosomal recessive spastic paraplegia type 77 |
GARD:17827 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 77 |
|
|
MONDO:0862643 |
familial patent arterial duct |
GARD:17828 |
MONDO:equivalentTo |
Familial patent arterial duct |
|
|
MONDO:0862644 |
autosomal dominant charcot-marie-tooth disease type 2z |
GARD:17829 |
MONDO:equivalentTo |
Autosomal dominant Charcot-Marie-Tooth disease type 2Z |
|
|
MONDO:0862645 |
autosomal recessive charcot-marie-tooth disease type 2x |
GARD:17830 |
MONDO:equivalentTo |
Autosomal recessive Charcot-Marie-Tooth disease type 2X |
|
|
MONDO:0862646 |
neonatal severe cardiopulmonary failure due to mitochondrial methylation defect |
GARD:17831 |
MONDO:equivalentTo |
Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect |
|
|
MONDO:0862647 |
macrocephaly-intellectual disability-left ventricular non compaction syndrome |
GARD:17832 |
MONDO:equivalentTo |
Macrocephaly-intellectual disability-left ventricular non compaction syndrome |
|
|
MONDO:0862648 |
acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome |
GARD:17833 |
MONDO:equivalentTo |
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome |
|
|
MONDO:0862649 |
lims2-related limb-girdle muscular dystrophy |
GARD:17834 |
MONDO:equivalentTo |
LIMS2-related limb-girdle muscular dystrophy |
|
|
MONDO:0862650 |
autosomal dominant thrombocytopenia with platelet secretion defect |
GARD:17835 |
MONDO:equivalentTo |
Autosomal dominant thrombocytopenia with platelet secretion defect |
|
|
MONDO:0862651 |
seizures-scoliosis-macrocephaly syndrome |
GARD:17836 |
MONDO:equivalentTo |
Seizures-scoliosis-macrocephaly syndrome |
|
|
MONDO:0862652 |
vps11-related autosomal recessive hypomyelinating leukodystrophy |
GARD:17837 |
MONDO:equivalentTo |
VPS11-related autosomal recessive hypomyelinating leukodystrophy |
|
|
MONDO:0862653 |
wac-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome |
GARD:17838 |
MONDO:equivalentTo |
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome |
|
|
MONDO:0862654 |
facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to wac point mutation |
GARD:17839 |
MONDO:equivalentTo |
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation |
|
|
MONDO:0862655 |
severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome |
GARD:17840 |
MONDO:equivalentTo |
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome |
|
|
MONDO:0862656 |
microcephalic cortical malformations-short stature due to rttn deficiency |
GARD:17841 |
MONDO:equivalentTo |
Microcephalic cortical malformations-short stature due to RTTN deficiency |
|
|
MONDO:0862657 |
autosomal recessive spastic paraplegia type 74 |
GARD:17842 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 74 |
|
|
MONDO:0862658 |
isolated generalized anhidrosis with normal sweat glands |
GARD:17843 |
MONDO:equivalentTo |
Isolated generalized anhidrosis with normal sweat glands |
|
|
MONDO:0862659 |
colobomatous macrophthalmia-microcornea syndrome |
GARD:17844 |
MONDO:equivalentTo |
Colobomatous macrophthalmia-microcornea syndrome |
|
|
MONDO:0862660 |
ccdc115-cdg |
GARD:17845 |
MONDO:equivalentTo |
CCDC115-CDG |
|
|
MONDO:0862661 |
slc39a8-cdg |
GARD:17846 |
MONDO:equivalentTo |
SLC39A8-CDG |
|
|
MONDO:0862662 |
bves-related limb-girdle muscular dystrophy |
GARD:17847 |
MONDO:equivalentTo |
BVES-related limb-girdle muscular dystrophy |
|
|
MONDO:0862663 |
hereditary pediatric behçet-like disease |
GARD:17848 |
MONDO:equivalentTo |
Hereditary pediatric Behçet-like disease |
|
|
MONDO:0862664 |
combined immunodeficiency due to tfrc deficiency |
GARD:17849 |
MONDO:equivalentTo |
Combined immunodeficiency due to TFRC deficiency |
|
|
MONDO:0862665 |
micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome |
GARD:17850 |
MONDO:equivalentTo |
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome |
|
|
MONDO:0862666 |
pmp2-related charcot-marie-tooth disease type 1 |
GARD:17851 |
MONDO:equivalentTo |
PMP2-related Charcot-Marie-Tooth disease type 1 |
|
|
MONDO:0862667 |
il21-related infantile inflammatory bowel disease |
GARD:17852 |
MONDO:equivalentTo |
IL21-related infantile inflammatory bowel disease |
|
|
MONDO:0862668 |
postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome |
GARD:17853 |
MONDO:equivalentTo |
Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome |
|
|
MONDO:0862669 |
combined oxidative phosphorylation defect type 26 |
GARD:17854 |
MONDO:equivalentTo |
Combined oxidative phosphorylation defect type 26 |
|
|
MONDO:0862670 |
pontine autosomal dominant microangiopathy with leukoencephalopathy |
GARD:17855 |
MONDO:equivalentTo |
Pontine autosomal dominant microangiopathy with leukoencephalopathy |
|
|
MONDO:0862671 |
combined oxidative phosphorylation defect type 27 |
GARD:17856 |
MONDO:equivalentTo |
Combined oxidative phosphorylation defect type 27 |
|
|
MONDO:0862672 |
cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder |
GARD:17857 |
MONDO:equivalentTo |
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder |
|
|
MONDO:0862673 |
progressive microcephaly-seizures-cortical blindness-developmental delay syndrome |
GARD:17858 |
MONDO:equivalentTo |
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome |
|
|
MONDO:0862674 |
pmp22-rai1 contiguous gene duplication syndrome |
GARD:17859 |
MONDO:equivalentTo |
PMP22-RAI1 contiguous gene duplication syndrome |
|
|
MONDO:0862675 |
kosaki overgrowth syndrome |
GARD:17860 |
MONDO:equivalentTo |
Kosaki overgrowth syndrome |
|
|
MONDO:0862676 |
autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete rorgamma receptor deficiency |
GARD:17861 |
MONDO:equivalentTo |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency |
|
|
MONDO:0862677 |
palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome |
GARD:17862 |
MONDO:equivalentTo |
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome |
|
|
MONDO:0862678 |
combined oxidative phosphorylation defect type 29 |
GARD:17863 |
MONDO:equivalentTo |
Combined oxidative phosphorylation defect type 29 |
|
|
MONDO:0862679 |
combined oxidative phosphorylation defect type 30 |
GARD:17864 |
MONDO:equivalentTo |
Combined oxidative phosphorylation defect type 30 |
|
|
MONDO:0862680 |
lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome |
GARD:17865 |
MONDO:equivalentTo |
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome |
|
|
MONDO:0862681 |
hereditary sensory and autonomic neuropathy type 8 |
GARD:17866 |
MONDO:equivalentTo |
Hereditary sensory and autonomic neuropathy type 8 |
|
|
MONDO:0862682 |
progressive familial intrahepatic cholestasis type 5 |
GARD:17867 |
MONDO:equivalentTo |
Progressive familial intrahepatic cholestasis type 5 |
|
|
MONDO:0862683 |
msh3-related attenuated familial adenomatous polyposis |
GARD:17868 |
MONDO:equivalentTo |
MSH3-related attenuated familial adenomatous polyposis |
|
|
MONDO:0862684 |
poglut1-related limb-girdle muscular dystrophy r21 |
GARD:17869 |
MONDO:equivalentTo |
POGLUT1-related limb-girdle muscular dystrophy R21 |
|
|
MONDO:0862685 |
hereditary thrombocytopenia with early-onset myelofibrosis |
GARD:17870 |
MONDO:equivalentTo |
Hereditary thrombocytopenia with early-onset myelofibrosis |
|
|
MONDO:0862686 |
global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome |
GARD:17871 |
MONDO:equivalentTo |
Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome |
|
|
MONDO:0862687 |
x-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome |
GARD:17872 |
MONDO:equivalentTo |
X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome |
|
|
MONDO:0862688 |
pycr2-related microcephaly-progressive leukoencephalopathy |
GARD:17873 |
MONDO:equivalentTo |
PYCR2-related microcephaly-progressive leukoencephalopathy |
|
|
MONDO:0862689 |
familial chilblain lupus |
GARD:17874 |
MONDO:equivalentTo |
Familial Chilblain lupus |
|
|
MONDO:0862690 |
usp18 deficiency |
GARD:17875 |
MONDO:equivalentTo |
USP18 deficiency |
|
|
MONDO:0862691 |
familial schizencephaly |
GARD:17876 |
MONDO:equivalentTo |
Familial schizencephaly |
|
|
MONDO:0862692 |
htra1-related autosomal dominant cerebral small vessel disease |
GARD:17877 |
MONDO:equivalentTo |
HTRA1-related autosomal dominant cerebral small vessel disease |
|
|
MONDO:0862693 |
adenylosuccinate synthetase-like 1-related distal myopathy |
GARD:17878 |
MONDO:equivalentTo |
Adenylosuccinate synthetase-like 1-related distal myopathy |
|
|
MONDO:0862694 |
acquired schizencephaly |
GARD:17879 |
MONDO:equivalentTo |
Acquired schizencephaly |
|
|
MONDO:0862695 |
clcn4-related x-linked intellectual disability syndrome |
GARD:17880 |
MONDO:equivalentTo |
CLCN4-related X-linked intellectual disability syndrome |
|
|
MONDO:0862696 |
mff-related encephalopathy due to mitochondrial and peroxisomal fission defect |
GARD:17881 |
MONDO:equivalentTo |
MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect |
|
|
MONDO:0862697 |
prenatal-onset spinal muscular atrophy with congenital bone fractures |
GARD:17882 |
MONDO:equivalentTo |
Prenatal-onset spinal muscular atrophy with congenital bone fractures |
|
|
MONDO:0862698 |
congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome |
GARD:17883 |
MONDO:equivalentTo |
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome |
|
|
MONDO:0862699 |
macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome |
GARD:17884 |
MONDO:equivalentTo |
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome |
|
|
MONDO:0862700 |
pierpont syndrome |
GARD:17885 |
MONDO:equivalentTo |
Pierpont syndrome |
|
|
MONDO:0862701 |
microcephaly-congenital cataract-psoriasiform dermatitis syndrome |
GARD:17886 |
MONDO:equivalentTo |
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome |
|
|
MONDO:0862702 |
female infertility due to oocyte meiotic arrest |
GARD:17887 |
MONDO:equivalentTo |
Female infertility due to oocyte meiotic arrest |
|
|
MONDO:0862703 |
familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome |
GARD:17888 |
MONDO:equivalentTo |
Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome |
|
|
MONDO:0862704 |
split-foot malformation-mesoaxial polydactyly syndrome |
GARD:17889 |
MONDO:equivalentTo |
Split-foot malformation-mesoaxial polydactyly syndrome |
|
|
MONDO:0862705 |
14q32 duplication syndrome |
GARD:17890 |
MONDO:equivalentTo |
14q32 duplication syndrome |
|
|
MONDO:0862706 |
autosomal dominant charcot-marie-tooth disease type 2w |
GARD:17891 |
MONDO:equivalentTo |
Autosomal dominant Charcot-Marie-Tooth disease type 2W |
|
|
MONDO:0862707 |
autosomal recessive spastic paraplegia type 76 |
GARD:17892 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 76 |
|
|
MONDO:0862708 |
global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome |
GARD:17893 |
MONDO:equivalentTo |
Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome |
|
|
MONDO:0862709 |
transketolase deficiency |
GARD:17894 |
MONDO:equivalentTo |
Transketolase deficiency |
|
|
MONDO:0862710 |
severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome |
GARD:17895 |
MONDO:equivalentTo |
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome |
|
|
MONDO:0862711 |
tbck-related intellectual disability syndrome |
GARD:17896 |
MONDO:equivalentTo |
TBCK-related intellectual disability syndrome |
|
|
MONDO:0862712 |
early-onset epilepsy-intellectual disability-brain anomalies syndrome |
GARD:17897 |
MONDO:equivalentTo |
Early-onset epilepsy-intellectual disability-brain anomalies syndrome |
|
|
MONDO:0862713 |
telo2-related intellectual disability-neurodevelopmental disorder |
GARD:17898 |
MONDO:equivalentTo |
TELO2-related intellectual disability-neurodevelopmental disorder |
|
|
MONDO:0862714 |
ddx41-related hematologic malignancy predisposition syndrome |
GARD:17899 |
MONDO:equivalentTo |
DDX41-related hematologic malignancy predisposition syndrome |
|
|
MONDO:0862715 |
distal myopathy, tateyama type |
GARD:17900 |
MONDO:equivalentTo |
Distal myopathy, Tateyama type |
|
|
MONDO:0862716 |
vibratory angioedema |
GARD:17901 |
MONDO:equivalentTo |
Vibratory angioedema |
|
|
MONDO:0862717 |
rere-related neurodevelopmental syndrome |
GARD:17902 |
MONDO:equivalentTo |
RERE-related neurodevelopmental syndrome |
|
|
MONDO:0862718 |
retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome |
GARD:17903 |
MONDO:equivalentTo |
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome |
|
|
MONDO:0862719 |
diaph1-related sensorineural hearing loss-thrombocytopenia syndrome |
GARD:17904 |
MONDO:equivalentTo |
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome |
|
|
MONDO:0862720 |
infantile-onset generalized dyskinesia with orofacial involvement |
GARD:17905 |
MONDO:equivalentTo |
Infantile-onset generalized dyskinesia with orofacial involvement |
|
|
MONDO:0862721 |
childhood-onset benign chorea with striatal involvement |
GARD:17906 |
MONDO:equivalentTo |
Childhood-onset benign chorea with striatal involvement |
|
|
MONDO:0862722 |
squamous cell carcinoma of the hypopharynx |
GARD:17907 |
MONDO:equivalentTo |
Squamous cell carcinoma of the hypopharynx |
|
|
MONDO:0862723 |
squamous cell carcinoma of the larynx |
GARD:17908 |
MONDO:equivalentTo |
Squamous cell carcinoma of the larynx |
|
|
MONDO:0862724 |
charcot-marie-tooth disease type 2t |
GARD:17909 |
MONDO:equivalentTo |
Charcot-Marie-Tooth disease type 2T |
|
|
MONDO:0862725 |
c11orf73-related autosomal recessive hypomyelinating leukodystrophy |
GARD:17910 |
MONDO:equivalentTo |
C11ORF73-related autosomal recessive hypomyelinating leukodystrophy |
|
|
MONDO:0862726 |
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome |
GARD:17911 |
MONDO:equivalentTo |
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome |
|
|
MONDO:0862727 |
kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome |
GARD:17912 |
MONDO:equivalentTo |
Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome |
|
|
MONDO:0862728 |
even-plus syndrome |
GARD:17913 |
MONDO:equivalentTo |
EVEN-plus syndrome |
|
|
MONDO:0862729 |
early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome |
GARD:17914 |
MONDO:equivalentTo |
Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome |
|
|
MONDO:0862730 |
ocular anomalies-axonal neuropathy-developmental delay syndrome |
GARD:17915 |
MONDO:equivalentTo |
Ocular anomalies-axonal neuropathy-developmental delay syndrome |
|
|
MONDO:0862731 |
mme-related autosomal dominant charcot marie tooth disease type 2 |
GARD:17916 |
MONDO:equivalentTo |
MME-related autosomal dominant Charcot Marie Tooth disease type 2 |
|
|
MONDO:0862732 |
spinocerebellar ataxia type 43 |
GARD:17917 |
MONDO:equivalentTo |
Spinocerebellar ataxia type 43 |
|
|
MONDO:0862733 |
childhood-onset basal ganglia degeneration syndrome |
GARD:17918 |
MONDO:equivalentTo |
Childhood-onset basal ganglia degeneration syndrome |
|
|
MONDO:0862734 |
short rib-polydactyly syndrome type 5 |
GARD:17919 |
MONDO:equivalentTo |
Short rib-polydactyly syndrome type 5 |
|
|
MONDO:0862735 |
16p13.2 microdeletion syndrome |
GARD:17920 |
MONDO:equivalentTo |
16p13.2 microdeletion syndrome |
|
|
MONDO:0862736 |
tall stature-intellectual disability-renal anomalies syndrome |
GARD:17921 |
MONDO:equivalentTo |
Tall stature-intellectual disability-renal anomalies syndrome |
|
|
MONDO:0862737 |
multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome |
GARD:17922 |
MONDO:equivalentTo |
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome |
|
|
MONDO:0862738 |
early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome |
GARD:17923 |
MONDO:equivalentTo |
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome |
|
|
MONDO:0862739 |
microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom |
GARD:17924 |
MONDO:equivalentTo |
Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom |
|
|
MONDO:0862740 |
sin3a-related intellectual disability syndrome due to a point mutation |
GARD:17925 |
MONDO:equivalentTo |
SIN3A-related intellectual disability syndrome due to a point mutation |
|
|
MONDO:0862741 |
x-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome |
GARD:17926 |
MONDO:equivalentTo |
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome |
|
|
MONDO:0862742 |
squamous cell carcinoma of the nasal cavity and paranasal sinuses |
GARD:17927 |
MONDO:equivalentTo |
Squamous cell carcinoma of the nasal cavity and paranasal sinuses |
|
|
MONDO:0862743 |
squamous cell carcinoma of the oropharynx |
GARD:17928 |
MONDO:equivalentTo |
Squamous cell carcinoma of the oropharynx |
|
|
MONDO:0862744 |
squamous cell carcinoma of salivary glands |
GARD:17929 |
MONDO:equivalentTo |
Squamous cell carcinoma of salivary glands |
|
|
MONDO:0862745 |
severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract |
GARD:17930 |
MONDO:equivalentTo |
Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract |
|
|
MONDO:0862746 |
osteosclerotic metaphyseal dysplasia |
GARD:17931 |
MONDO:equivalentTo |
Osteosclerotic metaphyseal dysplasia |
|
|
MONDO:0862747 |
squamous cell carcinoma of the oral cavity |
GARD:17932 |
MONDO:equivalentTo |
Squamous cell carcinoma of the oral cavity |
|
|
MONDO:0862748 |
squamous cell carcinoma of the lip |
GARD:17933 |
MONDO:equivalentTo |
Squamous cell carcinoma of the lip |
|
|
MONDO:0862749 |
mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome |
GARD:17934 |
MONDO:equivalentTo |
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome |
|
|
MONDO:0862750 |
stag1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome |
GARD:17935 |
MONDO:equivalentTo |
STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome |
|
|
MONDO:0862751 |
alkaline ceramidase 3 deficiency |
GARD:17936 |
MONDO:equivalentTo |
Alkaline ceramidase 3 deficiency |
|
|
MONDO:0862752 |
cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome |
GARD:17937 |
MONDO:equivalentTo |
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome |
|
|
MONDO:0862753 |
severe combined immunodeficiency due to lat deficiency |
GARD:17938 |
MONDO:equivalentTo |
Severe combined immunodeficiency due to LAT deficiency |
|
|
MONDO:0862754 |
combined immunodeficiency due to moesin deficiency |
GARD:17939 |
MONDO:equivalentTo |
Combined immunodeficiency due to Moesin deficiency |
|
|
MONDO:0862755 |
3-methylglutaconic aciduria type 9 |
GARD:17940 |
MONDO:equivalentTo |
3-methylglutaconic aciduria type 9 |
|
|
MONDO:0862756 |
combined immunodeficiency due to gins1 deficiency |
GARD:17941 |
MONDO:equivalentTo |
Combined immunodeficiency due to GINS1 deficiency |
|
|
MONDO:0862757 |
early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome |
GARD:17942 |
MONDO:equivalentTo |
Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome |
|
|
MONDO:0862758 |
psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome |
GARD:17943 |
MONDO:equivalentTo |
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome |
|
|
MONDO:0862759 |
mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders |
GARD:17944 |
MONDO:equivalentTo |
Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders |
|
|
MONDO:0862760 |
stromme syndrome |
GARD:17945 |
MONDO:equivalentTo |
Stromme syndrome |
|
|
MONDO:0862761 |
autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction |
GARD:17946 |
MONDO:equivalentTo |
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction |
|
|
MONDO:0862762 |
gabriele-de vries syndrome |
GARD:17947 |
MONDO:equivalentTo |
Gabriele-de Vries syndrome |
|
|
MONDO:0862763 |
intellectual disability-cardiac anomalies-short stature-joint laxity syndrome |
GARD:17948 |
MONDO:equivalentTo |
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome |
|
|
MONDO:0862764 |
intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome |
GARD:17949 |
MONDO:equivalentTo |
Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome |
|
|
MONDO:0862765 |
hyperphenylalaninemia due to dnajc12 deficiency |
GARD:17950 |
MONDO:equivalentTo |
Hyperphenylalaninemia due to DNAJC12 deficiency |
|
|
MONDO:0862766 |
intermediate epidermolysis bullosa simplex with cardiomyopathy |
GARD:17951 |
MONDO:equivalentTo |
Intermediate epidermolysis bullosa simplex with cardiomyopathy |
|
|
MONDO:0862767 |
autosomal recessive spastic paraplegia type 78 |
GARD:17952 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 78 |
|
|
MONDO:0862768 |
intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome |
GARD:17953 |
MONDO:equivalentTo |
Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome |
|
|
MONDO:0862769 |
autosomal recessive anterior segment dysgenesis |
GARD:17954 |
MONDO:equivalentTo |
Autosomal recessive anterior segment dysgenesis |
|
|
MONDO:0862770 |
xq25 microduplication syndrome |
GARD:17955 |
MONDO:equivalentTo |
Xq25 microduplication syndrome |
|
|
MONDO:0862771 |
proximal myopathy with focal depletion of mitochondria |
GARD:17956 |
MONDO:equivalentTo |
Proximal myopathy with focal depletion of mitochondria |
|
|
MONDO:0862772 |
spastic paraplegia-intellectual disability-nystagmus-obesity syndrome |
GARD:17957 |
MONDO:equivalentTo |
Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome |
|
|
MONDO:0862773 |
dystonia-parkinsonism-hypermanganesemia syndrome |
GARD:17958 |
MONDO:equivalentTo |
Dystonia-parkinsonism-hypermanganesemia syndrome |
|
|
MONDO:0862774 |
autosomal dominant charcot-marie-tooth disease type 2dd |
GARD:17959 |
MONDO:equivalentTo |
Autosomal dominant Charcot-Marie-Tooth disease type 2DD |
|
|
MONDO:0862775 |
plaa-associated neurodevelopmental disorder |
GARD:17960 |
MONDO:equivalentTo |
PLAA-associated neurodevelopmental disorder |
|
|
MONDO:0862776 |
congenital vertebral-cardiac-renal anomalies syndrome |
GARD:17961 |
MONDO:equivalentTo |
Congenital vertebral-cardiac-renal anomalies syndrome |
|
|
MONDO:0862777 |
infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome |
GARD:17962 |
MONDO:equivalentTo |
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome |
|
|
MONDO:0862778 |
severe myopia-generalized joint laxity-short stature syndrome |
GARD:17963 |
MONDO:equivalentTo |
Severe myopia-generalized joint laxity-short stature syndrome |
|
|
MONDO:0862779 |
nkx6-2-related autosomal recessive hypomyelinating leukodystrophy |
GARD:17964 |
MONDO:equivalentTo |
NKX6-2-related autosomal recessive hypomyelinating leukodystrophy |
|
|
MONDO:0862780 |
non-specific syndromic intellectual disability |
GARD:17965 |
MONDO:equivalentTo |
Non-specific syndromic intellectual disability |
|
|
MONDO:0862781 |
hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome |
GARD:17966 |
MONDO:equivalentTo |
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome |
|
|
MONDO:0862782 |
hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome |
GARD:17967 |
MONDO:equivalentTo |
Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome |
|
|
MONDO:0862783 |
duane retraction syndrome with congenital deafness |
GARD:17968 |
MONDO:equivalentTo |
Duane retraction syndrome with congenital deafness |
|
|
MONDO:0862784 |
neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome |
GARD:17969 |
MONDO:equivalentTo |
Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome |
|
|
MONDO:0862785 |
intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome |
GARD:17970 |
MONDO:equivalentTo |
Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome |
|
|
MONDO:0862786 |
male infertility due to acephalic spermatozoa |
GARD:17971 |
MONDO:equivalentTo |
Male infertility due to acephalic spermatozoa |
|
|
MONDO:0862787 |
mixed phenotype acute leukemia |
GARD:17972 |
MONDO:equivalentTo |
Mixed phenotype acute leukemia |
|
|
MONDO:0862788 |
familial gpihbp1 deficiency |
GARD:17973 |
MONDO:equivalentTo |
Familial GPIHBP1 deficiency |
|
|
MONDO:0862789 |
b3galt6-related spondylodysplastic ehlers-danlos syndrome |
GARD:17974 |
MONDO:equivalentTo |
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome |
|
|
MONDO:0862790 |
classical-like ehlers-danlos syndrome type 2 |
GARD:17975 |
MONDO:equivalentTo |
Classical-like Ehlers-Danlos syndrome type 2 |
|
|
MONDO:0862791 |
autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy |
GARD:17976 |
MONDO:equivalentTo |
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy |
|
|
MONDO:0862792 |
palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome |
GARD:17977 |
MONDO:equivalentTo |
Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome |
|
|
MONDO:0862793 |
combined immunodeficiency due to cd70 deficiency |
GARD:17978 |
MONDO:equivalentTo |
Combined immunodeficiency due to CD70 deficiency |
|
|
MONDO:0862794 |
combined immunodeficiency due to itk deficiency |
GARD:17979 |
MONDO:equivalentTo |
Combined immunodeficiency due to ITK deficiency |
|
|
MONDO:0862795 |
growth delay-intellectual disability-hepatopathy syndrome |
GARD:17980 |
MONDO:equivalentTo |
Growth delay-intellectual disability-hepatopathy syndrome |
|
|
MONDO:0862796 |
combined immunodeficiency due to carmil2 deficiency |
GARD:17981 |
MONDO:equivalentTo |
Combined immunodeficiency due to CARMIL2 deficiency |
|
|
MONDO:0862797 |
gnb5-related intellectual disability-cardiac arrhythmia syndrome |
GARD:17982 |
MONDO:equivalentTo |
GNB5-related intellectual disability-cardiac arrhythmia syndrome |
|
|
MONDO:0862798 |
auditory neuropathy-optic atrophy syndrome |
GARD:17983 |
MONDO:equivalentTo |
Auditory neuropathy-optic atrophy syndrome |
|
|
MONDO:0862799 |
isolated hyperchlorhidrosis |
GARD:17984 |
MONDO:equivalentTo |
Isolated hyperchlorhidrosis |
|
|
MONDO:0862800 |
prune1-related neurological syndrome |
GARD:17985 |
MONDO:equivalentTo |
PRUNE1-related neurological syndrome |
|
|
MONDO:0862801 |
atypical hemolytic uremic syndrome with complement gene abnormality |
GARD:17986 |
MONDO:equivalentTo |
Atypical hemolytic uremic syndrome with complement gene abnormality |
|
|
MONDO:0862802 |
global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome |
GARD:17987 |
MONDO:equivalentTo |
Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome |
|
|
MONDO:0862803 |
rnf13-related severe early-onset epileptic encephalopathy |
GARD:17988 |
MONDO:equivalentTo |
RNF13-related severe early-onset epileptic encephalopathy |
|
|
MONDO:0862804 |
congenital myopathy with reduced type 2 muscle fibers |
GARD:17989 |
MONDO:equivalentTo |
Congenital myopathy with reduced type 2 muscle fibers |
|
|
MONDO:0862805 |
nad(p)hx dehydratase deficiency |
GARD:17990 |
MONDO:equivalentTo |
NAD(P)HX dehydratase deficiency |
|
|
MONDO:0862806 |
nad(p)hx epimerase deficiency |
GARD:17991 |
MONDO:equivalentTo |
NAD(P)HX epimerase deficiency |
|
|
MONDO:0862807 |
pancreatic agenesis-holoprosencephaly syndrome |
GARD:17992 |
MONDO:equivalentTo |
Pancreatic agenesis-holoprosencephaly syndrome |
|
|
MONDO:0862808 |
oculocerebrodental syndrome |
GARD:17993 |
MONDO:equivalentTo |
Oculocerebrodental syndrome |
|
|
MONDO:0862809 |
neonatal epileptic encephalopathy due to glutaminase deficiency |
GARD:17994 |
MONDO:equivalentTo |
Neonatal epileptic encephalopathy due to glutaminase deficiency |
|
|
MONDO:0862810 |
heme oxygenase-1 deficiency |
GARD:17995 |
MONDO:equivalentTo |
Heme oxygenase-1 deficiency |
|
|
MONDO:0862811 |
autosomal recessive extra-oral halitosis |
GARD:17996 |
MONDO:equivalentTo |
Autosomal recessive extra-oral halitosis |
|
|
MONDO:0862812 |
anterior maxillary protrusion-strabismus-intellectual disability syndrome |
GARD:17997 |
MONDO:equivalentTo |
Anterior maxillary protrusion-strabismus-intellectual disability syndrome |
|
|
MONDO:0862813 |
tmem94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome |
GARD:17998 |
MONDO:equivalentTo |
TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome |
|
|
MONDO:0862814 |
combined oxidative phosphorylation defect type 39 |
GARD:17999 |
MONDO:equivalentTo |
Combined oxidative phosphorylation defect type 39 |
|
|
MONDO:0862815 |
myh9-related disease |
GARD:180 |
MONDO:equivalentTo |
MYH9-related disease |
|
|
MONDO:0862816 |
infantile inflammatory bowel disease with neurological involvement |
GARD:18000 |
MONDO:equivalentTo |
Infantile inflammatory bowel disease with neurological involvement |
|
|
MONDO:0862817 |
craniosynostosis-microretrognathia-severe intellectual disability syndrome |
GARD:18001 |
MONDO:equivalentTo |
Craniosynostosis-microretrognathia-severe intellectual disability syndrome |
|
|
MONDO:0862818 |
resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta |
GARD:18002 |
MONDO:equivalentTo |
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta |
|
|
MONDO:0862819 |
idiopathic steroid-resistant nephrotic syndrome |
GARD:18003 |
MONDO:equivalentTo |
Idiopathic steroid-resistant nephrotic syndrome |
|
|
MONDO:0862820 |
multiple mitochondrial dysfunctions syndrome type 6 |
GARD:18004 |
MONDO:equivalentTo |
Multiple mitochondrial dysfunctions syndrome type 6 |
|
|
MONDO:0862821 |
galactose mutarotase deficiency |
GARD:18005 |
MONDO:equivalentTo |
Galactose mutarotase deficiency |
|
|
MONDO:0862822 |
qrsl1-related combined oxidative phosphorylation defect |
GARD:18006 |
MONDO:equivalentTo |
QRSL1-related combined oxidative phosphorylation defect |
|
|
MONDO:0862823 |
posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome |
GARD:18007 |
MONDO:equivalentTo |
Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome |
|
|
MONDO:0862824 |
blepharophimosis-ptosis-epicanthus inversus syndrome type 1 |
GARD:18008 |
MONDO:equivalentTo |
Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 |
|
|
MONDO:0862825 |
brachydactyly type b1 |
GARD:18009 |
MONDO:equivalentTo |
Brachydactyly type B1 |
|
|
MONDO:0862826 |
rfvt2-related riboflavin transporter deficiency |
GARD:18010 |
MONDO:equivalentTo |
RFVT2-related riboflavin transporter deficiency |
|
|
MONDO:0862827 |
microcephaly-micromelia syndrome |
GARD:18011 |
MONDO:equivalentTo |
Microcephaly-micromelia syndrome |
|
|
MONDO:0862828 |
wars2-related combined oxidative phosphorylation defect |
GARD:18012 |
MONDO:equivalentTo |
WARS2-related combined oxidative phosphorylation defect |
|
|
MONDO:0862829 |
satb2-associated syndrome due to a pathogenic variant |
GARD:18013 |
MONDO:equivalentTo |
SATB2-associated syndrome due to a pathogenic variant |
|
|
MONDO:0862830 |
nlrc4-related familial cold autoinflammatory syndrome |
GARD:18014 |
MONDO:equivalentTo |
NLRC4-related familial cold autoinflammatory syndrome |
|
|
MONDO:0862831 |
qrich1-related intellectual disability-chondrodysplasia syndrome |
GARD:18015 |
MONDO:equivalentTo |
QRICH1-related intellectual disability-chondrodysplasia syndrome |
|
|
MONDO:0862832 |
spondylometaphyseal dysplasia-corneal dystrophy syndrome |
GARD:18016 |
MONDO:equivalentTo |
Spondylometaphyseal dysplasia-corneal dystrophy syndrome |
|
|
MONDO:0862833 |
oculocutaneous albinism type 8 |
GARD:18017 |
MONDO:equivalentTo |
Oculocutaneous albinism type 8 |
|
|
MONDO:0862834 |
mthfs-related developmental delay-microcephaly-short stature-epilepsy syndrome |
GARD:18018 |
MONDO:equivalentTo |
MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome |
|
|
MONDO:0862835 |
facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome |
GARD:18019 |
MONDO:equivalentTo |
Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome |
|
|
MONDO:0862836 |
demodicidosis |
GARD:1802 |
MONDO:equivalentTo |
Demodicidosis |
|
|
MONDO:0862837 |
cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome |
GARD:18020 |
MONDO:equivalentTo |
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome |
|
|
MONDO:0862838 |
coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome |
GARD:18021 |
MONDO:equivalentTo |
Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome |
|
|
MONDO:0862839 |
kiaa1109-related early lethal congenital brain malformations-arthrogryposis syndrome |
GARD:18022 |
MONDO:equivalentTo |
KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome |
|
|
MONDO:0862840 |
clcn6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome |
GARD:18023 |
MONDO:equivalentTo |
CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome |
|
|
MONDO:0862841 |
oculogastrointestinal-neurodevelopmental syndrome |
GARD:18024 |
MONDO:equivalentTo |
Oculogastrointestinal-neurodevelopmental syndrome |
|
|
MONDO:0862842 |
spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-leber congenital amaurosis syndrome |
GARD:18025 |
MONDO:equivalentTo |
Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome |
|
|
MONDO:0862843 |
aplastic anemia-intellectual disability-dwarfism syndrome |
GARD:18026 |
MONDO:equivalentTo |
Aplastic anemia-intellectual disability-dwarfism syndrome |
|
|
MONDO:0862844 |
en1-related dorsoventral syndrome |
GARD:18027 |
MONDO:equivalentTo |
EN1-related dorsoventral syndrome |
|
|
MONDO:0862845 |
parkinsonism with polyneuropathy |
GARD:18028 |
MONDO:equivalentTo |
Parkinsonism with polyneuropathy |
|
|
MONDO:0862846 |
pontocerebellar hypoplasia type 11 |
GARD:18029 |
MONDO:equivalentTo |
Pontocerebellar hypoplasia type 11 |
|
|
MONDO:0862847 |
pontocerebellar hypoplasia type 12 |
GARD:18030 |
MONDO:equivalentTo |
Pontocerebellar hypoplasia type 12 |
|
|
MONDO:0862848 |
pontocerebellar hypoplasia type 13 |
GARD:18031 |
MONDO:equivalentTo |
Pontocerebellar hypoplasia type 13 |
|
|
MONDO:0862849 |
pontocerebellar hypoplasia type 14 |
GARD:18032 |
MONDO:equivalentTo |
Pontocerebellar hypoplasia type 14 |
|
|
MONDO:0862850 |
spastic paraparesis-cataracts-speech delay syndrome |
GARD:18033 |
MONDO:equivalentTo |
Spastic paraparesis-cataracts-speech delay syndrome |
|
|
MONDO:0862851 |
lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome |
GARD:18034 |
MONDO:equivalentTo |
Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome |
|
|
MONDO:0862852 |
acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate |
GARD:18035 |
MONDO:equivalentTo |
Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate |
|
|
MONDO:0862853 |
lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation |
GARD:18036 |
MONDO:equivalentTo |
Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation |
|
|
MONDO:0862854 |
lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the atad3 gene cluster |
GARD:18037 |
MONDO:equivalentTo |
Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster |
|
|
MONDO:0862855 |
dent disease type 1 |
GARD:1804 |
MONDO:equivalentTo |
Dent disease type 1 |
|
|
MONDO:0862856 |
dentin dysplasia type ii |
GARD:1806 |
MONDO:equivalentTo |
Dentin dysplasia type II |
|
|
MONDO:0862857 |
dentin dysplasia type i |
GARD:1807 |
MONDO:equivalentTo |
Dentin dysplasia type I |
|
|
MONDO:0862858 |
dentin dysplasia-sclerotic bones syndrome |
GARD:1808 |
MONDO:equivalentTo |
Dentin dysplasia-sclerotic bones syndrome |
|
|
MONDO:0862859 |
stargardt disease |
GARD:181 |
MONDO:equivalentTo |
Stargardt disease |
|
|
MONDO:0862860 |
radioulnar synostosis-developmental delay-hypotonia syndrome |
GARD:1810 |
MONDO:equivalentTo |
Radioulnar synostosis-developmental delay-hypotonia syndrome |
|
|
MONDO:0862861 |
dermatoleukodystrophy |
GARD:1813 |
MONDO:equivalentTo |
Dermatoleukodystrophy |
|
|
MONDO:0862862 |
dermatoosteolysis, kirghizian type |
GARD:1814 |
MONDO:equivalentTo |
Dermatoosteolysis, Kirghizian type |
|
|
MONDO:0862863 |
dermochondrocorneal dystrophy |
GARD:1815 |
MONDO:equivalentTo |
Dermochondrocorneal dystrophy |
|
|
MONDO:0862864 |
dermoodontodysplasia |
GARD:1816 |
MONDO:equivalentTo |
Dermoodontodysplasia |
|
|
MONDO:0862865 |
desbuquois syndrome |
GARD:1818 |
MONDO:equivalentTo |
Desbuquois syndrome |
|
|
MONDO:0862866 |
best vitelliform macular dystrophy |
GARD:182 |
MONDO:equivalentTo |
Best vitelliform macular dystrophy |
|
|
MONDO:0862867 |
desmoid tumor |
GARD:1820 |
MONDO:equivalentTo |
Desmoid tumor |
|
|
MONDO:0862868 |
familial developmental dysphasia |
GARD:1823 |
MONDO:equivalentTo |
Familial developmental dysphasia |
|
|
MONDO:0862869 |
dextrocardia |
GARD:1827 |
MONDO:equivalentTo |
Dextrocardia |
|
|
MONDO:0862870 |
transient neonatal diabetes mellitus |
GARD:1839 |
MONDO:equivalentTo |
Transient neonatal diabetes mellitus |
|
|
MONDO:0862871 |
yellow nail syndrome |
GARD:184 |
MONDO:equivalentTo |
Yellow nail syndrome |
|
|
MONDO:0862872 |
immune dysregulation-polyendocrinopathy-enteropathy-x-linked syndrome |
GARD:1850 |
MONDO:equivalentTo |
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome |
|
|
MONDO:0862873 |
split cord malformation type i |
GARD:1851 |
MONDO:equivalentTo |
Split cord malformation type I |
|
|
MONDO:0862874 |
dicarboxylic aminoaciduria |
GARD:1855 |
MONDO:equivalentTo |
Dicarboxylic aminoaciduria |
|
|
MONDO:0862875 |
diethylstilbestrol syndrome |
GARD:1859 |
MONDO:equivalentTo |
Diethylstilbestrol syndrome |
|
|
MONDO:0862876 |
diffuse neonatal hemangiomatosis |
GARD:1861 |
MONDO:equivalentTo |
Diffuse neonatal hemangiomatosis |
|
|
MONDO:0862877 |
familial dilated cardiomyopathy with conduction defect due to lmna mutation |
GARD:18615 |
MONDO:equivalentTo |
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation |
|
|
MONDO:0862878 |
non-epidermolytic palmoplantar keratoderma |
GARD:1862 |
MONDO:equivalentTo |
Non-epidermolytic palmoplantar keratoderma |
|
|
MONDO:0862879 |
progressive symmetric erythrokeratodermia |
GARD:18639 |
MONDO:equivalentTo |
Progressive symmetric erythrokeratodermia |
|
|
MONDO:0862880 |
x-linked non-syndromic intellectual disability |
GARD:18640 |
MONDO:equivalentTo |
X-linked non-syndromic intellectual disability |
|
|
MONDO:0862881 |
generalized epilepsy with febrile seizures-plus |
GARD:18641 |
MONDO:equivalentTo |
Generalized epilepsy with febrile seizures-plus |
|
|
MONDO:0862882 |
hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome |
GARD:18642 |
MONDO:equivalentTo |
Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome |
|
|
MONDO:0862883 |
autosomal recessive non-syndromic intellectual disability |
GARD:18643 |
MONDO:equivalentTo |
Autosomal recessive non-syndromic intellectual disability |
|
|
MONDO:0862884 |
autosomal recessive non-syndromic sensorineural deafness type dfnb |
GARD:18644 |
MONDO:equivalentTo |
Autosomal recessive non-syndromic sensorineural deafness type DFNB |
|
|
MONDO:0862885 |
juvenile nephronophthisis |
GARD:18645 |
MONDO:equivalentTo |
Juvenile nephronophthisis |
|
|
MONDO:0862886 |
overgrowth-macrocephaly-facial dysmorphism syndrome |
GARD:18646 |
MONDO:equivalentTo |
Overgrowth-macrocephaly-facial dysmorphism syndrome |
|
|
MONDO:0862887 |
hereditary persistence of alpha-fetoprotein |
GARD:18647 |
MONDO:equivalentTo |
Hereditary persistence of alpha-fetoprotein |
|
|
MONDO:0862888 |
hereditary persistence of fetal hemoglobin-sickle cell disease syndrome |
GARD:18648 |
MONDO:equivalentTo |
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome |
|
|
MONDO:0862889 |
isolated atp synthase deficiency |
GARD:18649 |
MONDO:equivalentTo |
Isolated ATP synthase deficiency |
|
|
MONDO:0862890 |
autosomal recessive nail dysplasia |
GARD:18650 |
MONDO:equivalentTo |
Autosomal recessive nail dysplasia |
|
|
MONDO:0862891 |
familial benign flecked retina |
GARD:18651 |
MONDO:equivalentTo |
Familial benign flecked retina |
|
|
MONDO:0862892 |
isolated sedoheptulokinase deficiency |
GARD:18652 |
MONDO:equivalentTo |
Isolated sedoheptulokinase deficiency |
|
|
MONDO:0862893 |
dnajb2-related charcot-marie-tooth disease type 2 |
GARD:18653 |
MONDO:equivalentTo |
DNAJB2-related Charcot-Marie-Tooth disease type 2 |
|
|
MONDO:0862894 |
lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome |
GARD:18654 |
MONDO:equivalentTo |
Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome |
|
|
MONDO:0862895 |
microcephaly-short stature-limb abnormalities syndrome |
GARD:18655 |
MONDO:equivalentTo |
Microcephaly-short stature-limb abnormalities syndrome |
|
|
MONDO:0862896 |
amoebiasis due to entamoeba histolytica |
GARD:18675 |
MONDO:equivalentTo |
Amoebiasis due to Entamoeba histolytica |
|
|
MONDO:0862897 |
amyloidosis |
GARD:18676 |
MONDO:equivalentTo |
Amyloidosis |
|
|
MONDO:0862898 |
juvenile idiopathic arthritis |
GARD:18677 |
MONDO:equivalentTo |
Juvenile idiopathic arthritis |
|
|
MONDO:0862899 |
atresia of urethra |
GARD:18678 |
MONDO:equivalentTo |
Atresia of urethra |
|
|
MONDO:0862900 |
non-rhizomelic chondrodysplasia punctata |
GARD:18679 |
MONDO:equivalentTo |
Non-rhizomelic chondrodysplasia punctata |
|
|
MONDO:0862901 |
scimitar syndrome |
GARD:18680 |
MONDO:equivalentTo |
Scimitar syndrome |
|
|
MONDO:0862902 |
isolated corpus callosum agenesis |
GARD:18681 |
MONDO:equivalentTo |
Isolated corpus callosum agenesis |
|
|
MONDO:0862903 |
neonatal diabetes mellitus |
GARD:18682 |
MONDO:equivalentTo |
Neonatal diabetes mellitus |
|
|
MONDO:0862904 |
trisomy 9p |
GARD:18683 |
MONDO:equivalentTo |
Trisomy 9p |
|
|
MONDO:0862905 |
digestive duplication |
GARD:18684 |
MONDO:equivalentTo |
Digestive duplication |
|
|
MONDO:0862906 |
spondylometaphyseal dysplasia |
GARD:18685 |
MONDO:equivalentTo |
Spondylometaphyseal dysplasia |
|
|
MONDO:0862907 |
duchenne and becker muscular dystrophy |
GARD:18686 |
MONDO:equivalentTo |
Duchenne and Becker muscular dystrophy |
|
|
MONDO:0862908 |
congenital herpes simplex virus infection |
GARD:18687 |
MONDO:equivalentTo |
Congenital herpes simplex virus infection |
|
|
MONDO:0862909 |
reflex epilepsy |
GARD:18688 |
MONDO:equivalentTo |
Reflex epilepsy |
|
|
MONDO:0862910 |
hemorrhagic fever-renal syndrome |
GARD:18689 |
MONDO:equivalentTo |
Hemorrhagic fever-renal syndrome |
|
|
MONDO:0862911 |
arbovirus fever |
GARD:18690 |
MONDO:equivalentTo |
Arbovirus fever |
|
|
MONDO:0862912 |
glycogen storage disease due to phosphorylase kinase deficiency |
GARD:18691 |
MONDO:equivalentTo |
Glycogen storage disease due to phosphorylase kinase deficiency |
|
|
MONDO:0862913 |
histoplasmosis |
GARD:18692 |
MONDO:equivalentTo |
Histoplasmosis |
|
|
MONDO:0862914 |
familial keratoacanthoma |
GARD:18693 |
MONDO:equivalentTo |
Familial keratoacanthoma |
|
|
MONDO:0862915 |
keratosis pilaris atrophicans |
GARD:18694 |
MONDO:equivalentTo |
Keratosis pilaris atrophicans |
|
|
MONDO:0862916 |
systemic lupus erythematosus |
GARD:18695 |
MONDO:equivalentTo |
Systemic lupus erythematosus |
|
|
MONDO:0862917 |
toxic epidermal necrolysis |
GARD:18696 |
MONDO:equivalentTo |
Toxic epidermal necrolysis |
|
|
MONDO:0862918 |
primary cutaneous cd30+ t-cell lymphoproliferative disease |
GARD:18697 |
MONDO:equivalentTo |
Primary cutaneous CD30+ T-cell lymphoproliferative disease |
|
|
MONDO:0862919 |
primary cutaneous lymphoma |
GARD:18698 |
MONDO:equivalentTo |
Primary cutaneous lymphoma |
|
|
MONDO:0862920 |
distal myopathy |
GARD:18699 |
MONDO:equivalentTo |
Distal myopathy |
|
|
MONDO:0862921 |
congenital primary megaureter |
GARD:18700 |
MONDO:equivalentTo |
Congenital primary megaureter |
|
|
MONDO:0862922 |
non-histaminic angioedema |
GARD:18701 |
MONDO:equivalentTo |
Non-histaminic angioedema |
|
|
MONDO:0862923 |
plague |
GARD:18702 |
MONDO:equivalentTo |
Plague |
|
|
MONDO:0862924 |
pili bifurcati |
GARD:18703 |
MONDO:equivalentTo |
Pili bifurcati |
|
|
MONDO:0862925 |
rare form of salmonellosis |
GARD:18704 |
MONDO:equivalentTo |
Rare form of salmonellosis |
|
|
MONDO:0862926 |
scleroderma |
GARD:18705 |
MONDO:equivalentTo |
Scleroderma |
|
|
MONDO:0862927 |
congenital cervical spinal stenosis |
GARD:18706 |
MONDO:equivalentTo |
Congenital cervical spinal stenosis |
|
|
MONDO:0862928 |
primitive portal vein thrombosis |
GARD:18707 |
MONDO:equivalentTo |
Primitive portal vein thrombosis |
|
|
MONDO:0862929 |
congenital toxoplasmosis |
GARD:18708 |
MONDO:equivalentTo |
Congenital toxoplasmosis |
|
|
MONDO:0862930 |
primary adult heart tumor |
GARD:18709 |
MONDO:equivalentTo |
Primary adult heart tumor |
|
|
MONDO:0862931 |
primary pediatric heart tumor |
GARD:18710 |
MONDO:equivalentTo |
Primary pediatric heart tumor |
|
|
MONDO:0862932 |
extragonadal teratoma |
GARD:18711 |
MONDO:equivalentTo |
Extragonadal teratoma |
|
|
MONDO:0862933 |
absence of the pulmonary artery |
GARD:18712 |
MONDO:equivalentTo |
Absence of the pulmonary artery |
|
|
MONDO:0862934 |
alopecia antibody deficiency |
GARD:18713 |
MONDO:equivalentTo |
Alopecia antibody deficiency |
|
|
MONDO:0862935 |
sideroblastic anemia |
GARD:18714 |
MONDO:equivalentTo |
Sideroblastic anemia |
|
|
MONDO:0862936 |
isolated lissencephaly type 1 without known genetic defects |
GARD:18715 |
MONDO:equivalentTo |
Isolated lissencephaly type 1 without known genetic defects |
|
|
MONDO:0862937 |
radial deficiency-tibial hypoplasia syndrome |
GARD:18716 |
MONDO:equivalentTo |
Radial deficiency-tibial hypoplasia syndrome |
|
|
MONDO:0862938 |
abnormal origin of the pulmonary artery |
GARD:18717 |
MONDO:equivalentTo |
Abnormal origin of the pulmonary artery |
|
|
MONDO:0862939 |
autosomal recessive cerebellar ataxia |
GARD:18718 |
MONDO:equivalentTo |
Autosomal recessive cerebellar ataxia |
|
|
MONDO:0862940 |
mitochondrial dna-related cardiomyopathy and hearing loss |
GARD:18719 |
MONDO:equivalentTo |
Mitochondrial DNA-related cardiomyopathy and hearing loss |
|
|
MONDO:0862941 |
diphallia |
GARD:1872 |
MONDO:equivalentTo |
Diphallia |
|
|
MONDO:0862942 |
isolated cerebellar agenesis |
GARD:18720 |
MONDO:equivalentTo |
Isolated cerebellar agenesis |
|
|
MONDO:0862943 |
paroxysmal dyskinesia |
GARD:18721 |
MONDO:equivalentTo |
Paroxysmal dyskinesia |
|
|
MONDO:0862944 |
autosomal dominant coarctation of aorta |
GARD:18722 |
MONDO:equivalentTo |
Autosomal dominant coarctation of aorta |
|
|
MONDO:0862945 |
atypical coarctation of aorta |
GARD:18723 |
MONDO:equivalentTo |
Atypical coarctation of aorta |
|
|
MONDO:0862946 |
criss-cross heart |
GARD:18724 |
MONDO:equivalentTo |
Criss-cross heart |
|
|
MONDO:0862947 |
univentricular heart |
GARD:18725 |
MONDO:equivalentTo |
Univentricular heart |
|
|
MONDO:0862948 |
short rib-polydactyly syndrome |
GARD:18726 |
MONDO:equivalentTo |
Short rib-polydactyly syndrome |
|
|
MONDO:0862949 |
thin ribs-tubular bones-dysmorphism syndrome |
GARD:18727 |
MONDO:equivalentTo |
Thin ribs-tubular bones-dysmorphism syndrome |
|
|
MONDO:0862950 |
benign focal seizures of adolescence |
GARD:18728 |
MONDO:equivalentTo |
Benign focal seizures of adolescence |
|
|
MONDO:0862951 |
non-distal monosomy 10q |
GARD:18729 |
MONDO:equivalentTo |
Non-distal monosomy 10q |
|
|
MONDO:0862952 |
deletion 5q35 |
GARD:18730 |
MONDO:equivalentTo |
Deletion 5q35 |
|
|
MONDO:0862953 |
distal monosomy 7q36 |
GARD:18731 |
MONDO:equivalentTo |
Distal monosomy 7q36 |
|
|
MONDO:0862954 |
distal monosomy 9p |
GARD:18732 |
MONDO:equivalentTo |
Distal monosomy 9p |
|
|
MONDO:0862955 |
xp22.3 microdeletion syndrome |
GARD:18733 |
MONDO:equivalentTo |
Xp22.3 microdeletion syndrome |
|
|
MONDO:0862956 |
sporadic fetal brain disruption sequence |
GARD:18734 |
MONDO:equivalentTo |
Sporadic fetal brain disruption sequence |
|
|
MONDO:0862957 |
familial idiopathic dilatation of the right atrium |
GARD:18735 |
MONDO:equivalentTo |
Familial idiopathic dilatation of the right atrium |
|
|
MONDO:0862958 |
mosaic trisomy 1 |
GARD:18736 |
MONDO:equivalentTo |
Mosaic trisomy 1 |
|
|
MONDO:0862959 |
non-distal trisomy 10q |
GARD:18737 |
MONDO:equivalentTo |
Non-distal trisomy 10q |
|
|
MONDO:0862960 |
non-distal trisomy 13q |
GARD:18738 |
MONDO:equivalentTo |
Non-distal trisomy 13q |
|
|
MONDO:0862961 |
distal trisomy 14q |
GARD:18739 |
MONDO:equivalentTo |
Distal trisomy 14q |
|
|
MONDO:0862962 |
hemolytic anemia due to diphosphoglycerate mutase deficiency |
GARD:1874 |
MONDO:equivalentTo |
Hemolytic anemia due to diphosphoglycerate mutase deficiency |
|
|
MONDO:0862963 |
distal trisomy 15q |
GARD:18740 |
MONDO:equivalentTo |
Distal trisomy 15q |
|
|
MONDO:0862964 |
mosaic trisomy 16 |
GARD:18741 |
MONDO:equivalentTo |
Mosaic trisomy 16 |
|
|
MONDO:0862965 |
distal trisomy 18q |
GARD:18742 |
MONDO:equivalentTo |
Distal trisomy 18q |
|
|
MONDO:0862966 |
distal trisomy 19q |
GARD:18743 |
MONDO:equivalentTo |
Distal trisomy 19q |
|
|
MONDO:0862967 |
mosaic trisomy 20 |
GARD:18744 |
MONDO:equivalentTo |
Mosaic trisomy 20 |
|
|
MONDO:0862968 |
distal trisomy 6p |
GARD:18745 |
MONDO:equivalentTo |
Distal trisomy 6p |
|
|
MONDO:0862969 |
fibular dimelia-diplopodia syndrome |
GARD:18746 |
MONDO:equivalentTo |
Fibular dimelia-diplopodia syndrome |
|
|
MONDO:0862970 |
45,x/46,xy mixed gonadal dysgenesis |
GARD:18747 |
MONDO:equivalentTo |
45,X/46,XY mixed gonadal dysgenesis |
|
|
MONDO:0862971 |
multicystic dysplastic kidney |
GARD:18748 |
MONDO:equivalentTo |
Multicystic dysplastic kidney |
|
|
MONDO:0862972 |
focal, segmental or multifocal dystonia |
GARD:18749 |
MONDO:equivalentTo |
Focal, segmental or multifocal dystonia |
|
|
MONDO:0862973 |
diphtheria |
GARD:1875 |
MONDO:equivalentTo |
Diphtheria |
|
|
MONDO:0862974 |
fetal trimethadione syndrome |
GARD:18750 |
MONDO:equivalentTo |
Fetal trimethadione syndrome |
|
|
MONDO:0862975 |
toluene embryopathy |
GARD:18751 |
MONDO:equivalentTo |
Toluene embryopathy |
|
|
MONDO:0862976 |
rasmussen subacute encephalitis |
GARD:18752 |
MONDO:equivalentTo |
Rasmussen subacute encephalitis |
|
|
MONDO:0862977 |
frontal encephalocele |
GARD:18753 |
MONDO:equivalentTo |
Frontal encephalocele |
|
|
MONDO:0862978 |
cleft lip with or without cleft palate |
GARD:18754 |
MONDO:equivalentTo |
Cleft lip with or without cleft palate |
|
|
MONDO:0862979 |
cleft lip/palate-deafness-sacral lipoma syndrome |
GARD:18755 |
MONDO:equivalentTo |
Cleft lip/palate-deafness-sacral lipoma syndrome |
|
|
MONDO:0862980 |
median cleft lip/mandibule |
GARD:18756 |
MONDO:equivalentTo |
Median cleft lip/mandibule |
|
|
MONDO:0862981 |
filariasis |
GARD:18757 |
MONDO:equivalentTo |
Filariasis |
|
|
MONDO:0862982 |
congenital systemic arteriovenous fistula |
GARD:18758 |
MONDO:equivalentTo |
Congenital systemic arteriovenous fistula |
|
|
MONDO:0862983 |
progressive non-infectious anterior vertebral fusion |
GARD:18759 |
MONDO:equivalentTo |
Progressive non-infectious anterior vertebral fusion |
|
|
MONDO:0862984 |
diprosopus |
GARD:1876 |
MONDO:equivalentTo |
Diprosopus |
|
|
MONDO:0862985 |
dysmorphism-pectus carinatum-joint laxity syndrome |
GARD:18760 |
MONDO:equivalentTo |
Dysmorphism-pectus carinatum-joint laxity syndrome |
|
|
MONDO:0862986 |
hemimelia |
GARD:18761 |
MONDO:equivalentTo |
Hemimelia |
|
|
MONDO:0862987 |
craniosynostosis, herrmann-opitz type |
GARD:18762 |
MONDO:equivalentTo |
Craniosynostosis, Herrmann-Opitz type |
|
|
MONDO:0862988 |
hypotrichosis-intellectual disability, lopes type |
GARD:18763 |
MONDO:equivalentTo |
Hypotrichosis-intellectual disability, Lopes type |
|
|
MONDO:0862989 |
dysmorphism-short stature-deafness-disorder of sex development syndrome |
GARD:18764 |
MONDO:equivalentTo |
Dysmorphism-short stature-deafness-disorder of sex development syndrome |
|
|
MONDO:0862990 |
isotretinoin syndrome |
GARD:18765 |
MONDO:equivalentTo |
Isotretinoin syndrome |
|
|
MONDO:0862991 |
epidermolysis bullosa simplex with anodontia/hypodontia |
GARD:18766 |
MONDO:equivalentTo |
Epidermolysis bullosa simplex with anodontia/hypodontia |
|
|
MONDO:0862992 |
kallmann syndrome-heart disease syndrome |
GARD:18767 |
MONDO:equivalentTo |
Kallmann syndrome-heart disease syndrome |
|
|
MONDO:0862993 |
isolated punctate palmoplantar keratoderma |
GARD:18768 |
MONDO:equivalentTo |
Isolated punctate palmoplantar keratoderma |
|
|
MONDO:0862994 |
congenital primary lymphedema without systemic or visceral involvement |
GARD:18769 |
MONDO:equivalentTo |
Congenital primary lymphedema without systemic or visceral involvement |
|
|
MONDO:0862995 |
primary pulmonary lymphoma |
GARD:18770 |
MONDO:equivalentTo |
Primary pulmonary lymphoma |
|
|
MONDO:0862996 |
mitochondrial oxidative phosphorylation disorder due to nuclear dna anomalies |
GARD:18771 |
MONDO:equivalentTo |
Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies |
|
|
MONDO:0862997 |
congenital pulmonary airway malformation |
GARD:18772 |
MONDO:equivalentTo |
Congenital pulmonary airway malformation |
|
|
MONDO:0862998 |
lower limb malformation-hypospadias syndrome |
GARD:18773 |
MONDO:equivalentTo |
Lower limb malformation-hypospadias syndrome |
|
|
MONDO:0862999 |
microcephaly-seizures-intellectual disability-heart disease syndrome |
GARD:18774 |
MONDO:equivalentTo |
Microcephaly-seizures-intellectual disability-heart disease syndrome |
|
|
MONDO:0863000 |
myalgia-eosinophilia syndrome associated with tryptophan |
GARD:18775 |
MONDO:equivalentTo |
Myalgia-eosinophilia syndrome associated with tryptophan |
|
|
MONDO:0863001 |
osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome |
GARD:18776 |
MONDO:equivalentTo |
Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome |
|
|
MONDO:0863002 |
adult familial nephronophthisis-spastic quadriparesia syndrome |
GARD:18777 |
MONDO:equivalentTo |
Adult familial nephronophthisis-spastic quadriparesia syndrome |
|
|
MONDO:0863003 |
osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome |
GARD:18778 |
MONDO:equivalentTo |
Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome |
|
|
MONDO:0863004 |
congenital pericardium anomaly |
GARD:18779 |
MONDO:equivalentTo |
Congenital pericardium anomaly |
|
|
MONDO:0863005 |
pericardial and diaphragmatic defect |
GARD:18780 |
MONDO:equivalentTo |
Pericardial and diaphragmatic defect |
|
|
MONDO:0863006 |
hereditary acrokeratotic poikiloderma |
GARD:18781 |
MONDO:equivalentTo |
Hereditary acrokeratotic poikiloderma |
|
|
MONDO:0863007 |
46,xx disorder of sex development-anorectal anomalies syndrome |
GARD:18782 |
MONDO:equivalentTo |
46,XX disorder of sex development-anorectal anomalies syndrome |
|
|
MONDO:0863008 |
46,xx disorder of sex development |
GARD:18783 |
MONDO:equivalentTo |
46,XX disorder of sex development |
|
|
MONDO:0863009 |
mirror polydactyly-vertebral segmentation-limbs defects syndrome |
GARD:18784 |
MONDO:equivalentTo |
Mirror polydactyly-vertebral segmentation-limbs defects syndrome |
|
|
MONDO:0863010 |
congenital systemic veins anomaly |
GARD:18785 |
MONDO:equivalentTo |
Congenital systemic veins anomaly |
|
|
MONDO:0863011 |
congenital aortic valve stenosis |
GARD:18786 |
MONDO:equivalentTo |
Congenital aortic valve stenosis |
|
|
MONDO:0863012 |
multiple sclerosis-ichthyosis-factor viii deficiency syndrome |
GARD:18787 |
MONDO:equivalentTo |
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome |
|
|
MONDO:0863013 |
hearing loss-familial salivary gland insensitivity to aldosterone syndrome |
GARD:18788 |
MONDO:equivalentTo |
Hearing loss-familial salivary gland insensitivity to aldosterone syndrome |
|
|
MONDO:0863014 |
central nervous system calcification-deafness-tubular acidosis-anemia syndrome |
GARD:18789 |
MONDO:equivalentTo |
Central nervous system calcification-deafness-tubular acidosis-anemia syndrome |
|
|
MONDO:0863015 |
disorder of plasmalogens biosynthesis |
GARD:18790 |
MONDO:equivalentTo |
Disorder of plasmalogens biosynthesis |
|
|
MONDO:0863016 |
telecanthus-hypertelorism-strabismus-pes cavus syndrome |
GARD:18791 |
MONDO:equivalentTo |
Telecanthus-hypertelorism-strabismus-pes cavus syndrome |
|
|
MONDO:0863017 |
tetrasomy 5p |
GARD:18792 |
MONDO:equivalentTo |
Tetrasomy 5p |
|
|
MONDO:0863018 |
toxocariasis |
GARD:18793 |
MONDO:equivalentTo |
Toxocariasis |
|
|
MONDO:0863019 |
distal trisomy 17q |
GARD:18794 |
MONDO:equivalentTo |
Distal trisomy 17q |
|
|
MONDO:0863020 |
american trypanosomiasis |
GARD:18795 |
MONDO:equivalentTo |
American trypanosomiasis |
|
|
MONDO:0863021 |
neural tube defect |
GARD:18796 |
MONDO:equivalentTo |
Neural tube defect |
|
|
MONDO:0863022 |
germ cell tumor |
GARD:18797 |
MONDO:equivalentTo |
Germ cell tumor |
|
|
MONDO:0863023 |
aorto-ventricular tunnel |
GARD:18798 |
MONDO:equivalentTo |
Aorto-ventricular tunnel |
|
|
MONDO:0863024 |
protein s acquired deficiency |
GARD:18799 |
MONDO:equivalentTo |
Protein S acquired deficiency |
|
|
MONDO:0863025 |
oral erosive lichen |
GARD:18800 |
MONDO:equivalentTo |
Oral erosive lichen |
|
|
MONDO:0863026 |
hypoalphalipoproteinemia |
GARD:18801 |
MONDO:equivalentTo |
Hypoalphalipoproteinemia |
|
|
MONDO:0863027 |
hypobetalipoproteinemia |
GARD:18802 |
MONDO:equivalentTo |
Hypobetalipoproteinemia |
|
|
MONDO:0863028 |
colchicine poisoning |
GARD:18803 |
MONDO:equivalentTo |
Colchicine poisoning |
|
|
MONDO:0863029 |
methanol poisoning |
GARD:18804 |
MONDO:equivalentTo |
Methanol poisoning |
|
|
MONDO:0863030 |
ethylene glycol poisoning |
GARD:18805 |
MONDO:equivalentTo |
Ethylene glycol poisoning |
|
|
MONDO:0863031 |
paraquat poisoning |
GARD:18806 |
MONDO:equivalentTo |
Paraquat poisoning |
|
|
MONDO:0863032 |
digitalis poisoning |
GARD:18807 |
MONDO:equivalentTo |
Digitalis poisoning |
|
|
MONDO:0863033 |
bullous lichen planus |
GARD:18808 |
MONDO:equivalentTo |
Bullous lichen planus |
|
|
MONDO:0863034 |
meningococcal meningitis |
GARD:18809 |
MONDO:equivalentTo |
Meningococcal meningitis |
|
|
MONDO:0863035 |
corneal dystrophy |
GARD:18810 |
MONDO:equivalentTo |
Corneal dystrophy |
|
|
MONDO:0863036 |
severe disseminated cytomegalovirus infection in immunocompetent patients |
GARD:18811 |
MONDO:equivalentTo |
Severe disseminated cytomegalovirus infection in immunocompetent patients |
|
|
MONDO:0863037 |
fulminant viral hepatitis |
GARD:18812 |
MONDO:equivalentTo |
Fulminant viral hepatitis |
|
|
MONDO:0863038 |
epidermal nevus syndrome |
GARD:18813 |
MONDO:equivalentTo |
Epidermal nevus syndrome |
|
|
MONDO:0863039 |
mitochondrial disorder due to a defect in mitochondrial protein synthesis |
GARD:18814 |
MONDO:equivalentTo |
Mitochondrial disorder due to a defect in mitochondrial protein synthesis |
|
|
MONDO:0863040 |
neurometabolic disorder due to serine deficiency |
GARD:18815 |
MONDO:equivalentTo |
Neurometabolic disorder due to serine deficiency |
|
|
MONDO:0863041 |
malignant sex cord stromal tumor of ovary |
GARD:18816 |
MONDO:equivalentTo |
Malignant sex cord stromal tumor of ovary |
|
|
MONDO:0863042 |
acute opioid poisoning |
GARD:18817 |
MONDO:equivalentTo |
Acute opioid poisoning |
|
|
MONDO:0863043 |
polymicrogyria |
GARD:18818 |
MONDO:equivalentTo |
Polymicrogyria |
|
|
MONDO:0863044 |
staphylococcal scarlet fever |
GARD:18819 |
MONDO:equivalentTo |
Staphylococcal scarlet fever |
|
|
MONDO:0863045 |
bullous impetigo |
GARD:18820 |
MONDO:equivalentTo |
Bullous impetigo |
|
|
MONDO:0863046 |
staphylococcal necrotizing pneumonia |
GARD:18821 |
MONDO:equivalentTo |
Staphylococcal necrotizing pneumonia |
|
|
MONDO:0863047 |
gastric linitis plastica |
GARD:18822 |
MONDO:equivalentTo |
Gastric linitis plastica |
|
|
MONDO:0863048 |
familial cervical artery dissection |
GARD:18823 |
MONDO:equivalentTo |
Familial cervical artery dissection |
|
|
MONDO:0863049 |
autoimmune hypoparathyroidism |
GARD:18824 |
MONDO:equivalentTo |
Autoimmune hypoparathyroidism |
|
|
MONDO:0863050 |
interstitial cystitis |
GARD:18825 |
MONDO:equivalentTo |
Interstitial cystitis |
|
|
MONDO:0863051 |
acquired kinky hair syndrome |
GARD:18826 |
MONDO:equivalentTo |
Acquired kinky hair syndrome |
|
|
MONDO:0863052 |
acitretin/etretinate embryopathy |
GARD:18827 |
MONDO:equivalentTo |
Acitretin/etretinate embryopathy |
|
|
MONDO:0863053 |
serotonin syndrome |
GARD:18828 |
MONDO:equivalentTo |
Serotonin syndrome |
|
|
MONDO:0863054 |
acute tricyclic antidepressant poisoning |
GARD:18829 |
MONDO:equivalentTo |
Acute tricyclic antidepressant poisoning |
|
|
MONDO:0863055 |
dissecting cellulitis of the scalp |
GARD:1883 |
MONDO:equivalentTo |
Dissecting cellulitis of the scalp |
|
|
MONDO:0863056 |
acute poisoning by drugs with membrane-stabilizing effect |
GARD:18830 |
MONDO:equivalentTo |
Acute poisoning by drugs with membrane-stabilizing effect |
|
|
MONDO:0863057 |
idiopathic neonatal atrial flutter |
GARD:18831 |
MONDO:equivalentTo |
Idiopathic neonatal atrial flutter |
|
|
MONDO:0863058 |
incessant infant ventricular tachycardia |
GARD:18832 |
MONDO:equivalentTo |
Incessant infant ventricular tachycardia |
|
|
MONDO:0863059 |
superficial pemphigus |
GARD:18833 |
MONDO:equivalentTo |
Superficial pemphigus |
|
|
MONDO:0863060 |
linear iga dermatosis |
GARD:18834 |
MONDO:equivalentTo |
Linear IgA dermatosis |
|
|
MONDO:0863061 |
postinfectious vasculitis |
GARD:18835 |
MONDO:equivalentTo |
Postinfectious vasculitis |
|
|
MONDO:0863062 |
embryonal carcinoma of the central nervous system |
GARD:18836 |
MONDO:equivalentTo |
Embryonal carcinoma of the central nervous system |
|
|
MONDO:0863063 |
focal myositis |
GARD:18837 |
MONDO:equivalentTo |
Focal myositis |
|
|
MONDO:0863064 |
acquired purpura fulminans |
GARD:18838 |
MONDO:equivalentTo |
Acquired purpura fulminans |
|
|
MONDO:0863065 |
lichen amyloidosis |
GARD:18839 |
MONDO:equivalentTo |
Lichen amyloidosis |
|
|
MONDO:0863066 |
microlissencephaly-micromelia syndrome |
GARD:18840 |
MONDO:equivalentTo |
Microlissencephaly-micromelia syndrome |
|
|
MONDO:0863067 |
zellweger-like syndrome without peroxisomal anomalies |
GARD:18841 |
MONDO:equivalentTo |
Zellweger-like syndrome without peroxisomal anomalies |
|
|
MONDO:0863068 |
duane anomaly-myopathy-scoliosis syndrome |
GARD:18842 |
MONDO:equivalentTo |
Duane anomaly-myopathy-scoliosis syndrome |
|
|
MONDO:0863069 |
anterior cutaneous nerve entrapment syndrome |
GARD:18843 |
MONDO:equivalentTo |
Anterior cutaneous nerve entrapment syndrome |
|
|
MONDO:0863070 |
vasculitis |
GARD:18844 |
MONDO:equivalentTo |
Vasculitis |
|
|
MONDO:0863071 |
orbital leiomyoma |
GARD:18845 |
MONDO:equivalentTo |
Orbital leiomyoma |
|
|
MONDO:0863072 |
posterior cortical atrophy |
GARD:18846 |
MONDO:equivalentTo |
Posterior cortical atrophy |
|
|
MONDO:0863073 |
hepatocellular adenoma |
GARD:18847 |
MONDO:equivalentTo |
Hepatocellular adenoma |
|
|
MONDO:0863074 |
sarcocystosis |
GARD:18848 |
MONDO:equivalentTo |
Sarcocystosis |
|
|
MONDO:0863075 |
pneumococcal meningitis |
GARD:18849 |
MONDO:equivalentTo |
Pneumococcal meningitis |
|
|
MONDO:0863076 |
carcinoma of gallbladder and extrahepatic biliary tract |
GARD:18850 |
MONDO:equivalentTo |
Carcinoma of gallbladder and extrahepatic biliary tract |
|
|
MONDO:0863077 |
human prion disease |
GARD:18851 |
MONDO:equivalentTo |
Human prion disease |
|
|
MONDO:0863078 |
cirrhotic cardiomyopathy |
GARD:18852 |
MONDO:equivalentTo |
Cirrhotic cardiomyopathy |
|
|
MONDO:0863079 |
mazabraud syndrome |
GARD:18853 |
MONDO:equivalentTo |
Mazabraud syndrome |
|
|
MONDO:0863080 |
osteoblastoma |
GARD:18854 |
MONDO:equivalentTo |
Osteoblastoma |
|
|
MONDO:0863081 |
rhombencephalosynapsis |
GARD:18855 |
MONDO:equivalentTo |
Rhombencephalosynapsis |
|
|
MONDO:0863082 |
argyria |
GARD:18856 |
MONDO:equivalentTo |
Argyria |
|
|
MONDO:0863083 |
rare epithelial tumor of stomach |
GARD:18857 |
MONDO:equivalentTo |
Rare epithelial tumor of stomach |
|
|
MONDO:0863084 |
paraneoplastic pemphigus |
GARD:18858 |
MONDO:equivalentTo |
Paraneoplastic pemphigus |
|
|
MONDO:0863085 |
acrofacial dysostosis, kennedy-teebi type |
GARD:18859 |
MONDO:equivalentTo |
Acrofacial dysostosis, Kennedy-Teebi type |
|
|
MONDO:0863086 |
late-onset distal myopathy, markesbery-griggs type |
GARD:1886 |
MONDO:equivalentTo |
Late-onset distal myopathy, Markesbery-Griggs type |
|
|
MONDO:0863087 |
benign idiopathic neonatal seizures |
GARD:18860 |
MONDO:equivalentTo |
Benign idiopathic neonatal seizures |
|
|
MONDO:0863088 |
oroya fever |
GARD:18861 |
MONDO:equivalentTo |
Oroya fever |
|
|
MONDO:0863089 |
trench fever |
GARD:18862 |
MONDO:equivalentTo |
Trench fever |
|
|
MONDO:0863090 |
granulomatous mastitis |
GARD:18863 |
MONDO:equivalentTo |
Granulomatous mastitis |
|
|
MONDO:0863091 |
pulmonary blastoma |
GARD:18864 |
MONDO:equivalentTo |
Pulmonary blastoma |
|
|
MONDO:0863092 |
hepatoportal sclerosis |
GARD:18865 |
MONDO:equivalentTo |
Hepatoportal sclerosis |
|
|
MONDO:0863093 |
igg4-related thyroid disease |
GARD:18866 |
MONDO:equivalentTo |
IgG4-related thyroid disease |
|
|
MONDO:0863094 |
vaginal atresia |
GARD:18867 |
MONDO:equivalentTo |
Vaginal atresia |
|
|
MONDO:0863095 |
short fifth metacarpals-insulin resistance syndrome |
GARD:18868 |
MONDO:equivalentTo |
Short fifth metacarpals-insulin resistance syndrome |
|
|
MONDO:0863096 |
sensorineural hearing loss-early graying-essential tremor syndrome |
GARD:18869 |
MONDO:equivalentTo |
Sensorineural hearing loss-early graying-essential tremor syndrome |
|
|
MONDO:0863097 |
vocal cord and pharyngeal distal myopathy |
GARD:1887 |
MONDO:equivalentTo |
Vocal cord and pharyngeal distal myopathy |
|
|
MONDO:0863098 |
mast cell sarcoma |
GARD:18870 |
MONDO:equivalentTo |
Mast cell sarcoma |
|
|
MONDO:0863099 |
extracutaneous mastocytoma |
GARD:18871 |
MONDO:equivalentTo |
Extracutaneous mastocytoma |
|
|
MONDO:0863100 |
segmental odontomaxillary dysplasia |
GARD:18872 |
MONDO:equivalentTo |
Segmental odontomaxillary dysplasia |
|
|
MONDO:0863101 |
rare hemorrhagic disorder due to a constitutional coagulation factors defect |
GARD:18873 |
MONDO:equivalentTo |
Rare hemorrhagic disorder due to a constitutional coagulation factors defect |
|
|
MONDO:0863102 |
rare chromosomal anomaly |
GARD:18874 |
MONDO:equivalentTo |
Rare chromosomal anomaly |
|
|
MONDO:0863103 |
rare genetic tumor |
GARD:18875 |
MONDO:equivalentTo |
Rare genetic tumor |
|
|
MONDO:0863104 |
multiple congenital anomalies/dysmorphic syndrome |
GARD:18876 |
MONDO:equivalentTo |
Multiple congenital anomalies/dysmorphic syndrome |
|
|
MONDO:0863105 |
rare genetic skin disease |
GARD:18877 |
MONDO:equivalentTo |
Rare genetic skin disease |
|
|
MONDO:0863106 |
tumor of hematopoietic and lymphoid tissues |
GARD:18878 |
MONDO:equivalentTo |
Tumor of hematopoietic and lymphoid tissues |
|
|
MONDO:0863107 |
rare sleep disorder |
GARD:18879 |
MONDO:equivalentTo |
Rare sleep disorder |
|
|
MONDO:0863108 |
rare deafness |
GARD:18880 |
MONDO:equivalentTo |
Rare deafness |
|
|
MONDO:0863109 |
rare vascular disease |
GARD:18881 |
MONDO:equivalentTo |
Rare vascular disease |
|
|
MONDO:0863110 |
rare dystonia |
GARD:18882 |
MONDO:equivalentTo |
Rare dystonia |
|
|
MONDO:0863111 |
hemoglobinopathy |
GARD:18883 |
MONDO:equivalentTo |
Hemoglobinopathy |
|
|
MONDO:0863112 |
lysosomal disease |
GARD:18884 |
MONDO:equivalentTo |
Lysosomal disease |
|
|
MONDO:0863113 |
peroxisomal disease |
GARD:18885 |
MONDO:equivalentTo |
Peroxisomal disease |
|
|
MONDO:0863114 |
congenital limb malformation |
GARD:18886 |
MONDO:equivalentTo |
Congenital limb malformation |
|
|
MONDO:0863115 |
mitochondrial disease |
GARD:18887 |
MONDO:equivalentTo |
Mitochondrial disease |
|
|
MONDO:0863116 |
neuromuscular disease |
GARD:18888 |
MONDO:equivalentTo |
Neuromuscular disease |
|
|
MONDO:0863117 |
rare constitutional aplastic anemia |
GARD:18889 |
MONDO:equivalentTo |
Rare constitutional aplastic anemia |
|
|
MONDO:0863118 |
neurometabolic disease |
GARD:18890 |
MONDO:equivalentTo |
Neurometabolic disease |
|
|
MONDO:0863119 |
rare parkinsonian disorder |
GARD:18891 |
MONDO:equivalentTo |
Rare parkinsonian disorder |
|
|
MONDO:0863120 |
rare bone tumor |
GARD:18892 |
MONDO:equivalentTo |
Rare bone tumor |
|
|
MONDO:0863121 |
rare parathyroid disease and phosphocalcic metabolism anomaly |
GARD:18893 |
MONDO:equivalentTo |
Rare parathyroid disease and phosphocalcic metabolism anomaly |
|
|
MONDO:0863122 |
vascular anomaly or angioma |
GARD:18894 |
MONDO:equivalentTo |
Vascular anomaly or angioma |
|
|
MONDO:0863123 |
dysostosis with brachydactyly |
GARD:18895 |
MONDO:equivalentTo |
Dysostosis with brachydactyly |
|
|
MONDO:0863124 |
congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization |
GARD:18896 |
MONDO:equivalentTo |
Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization |
|
|
MONDO:0863125 |
bilateral acute depigmentation of the iris |
GARD:18897 |
MONDO:equivalentTo |
Bilateral acute depigmentation of the iris |
|
|
MONDO:0863126 |
circumscribed palmoplantar hypokeratosis |
GARD:18898 |
MONDO:equivalentTo |
Circumscribed palmoplantar hypokeratosis |
|
|
MONDO:0863127 |
warty dyskeratoma |
GARD:18899 |
MONDO:equivalentTo |
Warty dyskeratoma |
|
|
MONDO:0863128 |
radiation proctitis |
GARD:18900 |
MONDO:equivalentTo |
Radiation proctitis |
|
|
MONDO:0863129 |
squamous cell carcinoma of the esophagus |
GARD:18901 |
MONDO:equivalentTo |
Squamous cell carcinoma of the esophagus |
|
|
MONDO:0863130 |
adult acute respiratory distress syndrome |
GARD:18902 |
MONDO:equivalentTo |
Adult acute respiratory distress syndrome |
|
|
MONDO:0863131 |
congenital epstein-barr virus infection |
GARD:18903 |
MONDO:equivalentTo |
Congenital Epstein-Barr virus infection |
|
|
MONDO:0863132 |
rare pulmonary hypertension |
GARD:18904 |
MONDO:equivalentTo |
Rare pulmonary hypertension |
|
|
MONDO:0863133 |
rare hemorrhagic disorder due to a constitutional platelet anomaly |
GARD:18905 |
MONDO:equivalentTo |
Rare hemorrhagic disorder due to a constitutional platelet anomaly |
|
|
MONDO:0863134 |
autoimmune thrombocytopenia |
GARD:18906 |
MONDO:equivalentTo |
Autoimmune thrombocytopenia |
|
|
MONDO:0863135 |
rare soft tissue tumor |
GARD:18907 |
MONDO:equivalentTo |
Rare soft tissue tumor |
|
|
MONDO:0863136 |
retinal capillary malformation |
GARD:18908 |
MONDO:equivalentTo |
Retinal capillary malformation |
|
|
MONDO:0863137 |
dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome |
GARD:18909 |
MONDO:equivalentTo |
Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome |
|
|
MONDO:0863138 |
distomatosis |
GARD:1891 |
MONDO:equivalentTo |
Distomatosis |
|
|
MONDO:0863139 |
silent sinus syndrome |
GARD:18910 |
MONDO:equivalentTo |
Silent sinus syndrome |
|
|
MONDO:0863140 |
rare central nervous system and retinal vascular disease |
GARD:18911 |
MONDO:equivalentTo |
Rare central nervous system and retinal vascular disease |
|
|
MONDO:0863141 |
cancer-associated retinopathy |
GARD:18912 |
MONDO:equivalentTo |
Cancer-associated retinopathy |
|
|
MONDO:0863142 |
benign paroxysmal torticollis of infancy |
GARD:18913 |
MONDO:equivalentTo |
Benign paroxysmal torticollis of infancy |
|
|
MONDO:0863143 |
psychogenic movement disorders |
GARD:18914 |
MONDO:equivalentTo |
Psychogenic movement disorders |
|
|
MONDO:0863144 |
rare genetic neurological disorder |
GARD:18915 |
MONDO:equivalentTo |
Rare genetic neurological disorder |
|
|
MONDO:0863145 |
inherited retinal disorder |
GARD:18916 |
MONDO:equivalentTo |
Inherited retinal disorder |
|
|
MONDO:0863146 |
muscular channelopathy |
GARD:18917 |
MONDO:equivalentTo |
Muscular channelopathy |
|
|
MONDO:0863147 |
intractable diarrhea of infancy |
GARD:18918 |
MONDO:equivalentTo |
Intractable diarrhea of infancy |
|
|
MONDO:0863148 |
global developmental delay-osteopenia-ectodermal defect syndrome |
GARD:18919 |
MONDO:equivalentTo |
Global developmental delay-osteopenia-ectodermal defect syndrome |
|
|
MONDO:0863149 |
kidney tubulopathy-dilated cardiomyopathy syndrome |
GARD:18920 |
MONDO:equivalentTo |
Kidney tubulopathy-dilated cardiomyopathy syndrome |
|
|
MONDO:0863150 |
ossification anomalies-psychomotor developmental delay syndrome |
GARD:18921 |
MONDO:equivalentTo |
Ossification anomalies-psychomotor developmental delay syndrome |
|
|
MONDO:0863151 |
spinal muscular atrophy-dandy-walker malformation-cataracts syndrome |
GARD:18922 |
MONDO:equivalentTo |
Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome |
|
|
MONDO:0863152 |
visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome |
GARD:18923 |
MONDO:equivalentTo |
Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome |
|
|
MONDO:0863153 |
myiasis |
GARD:18924 |
MONDO:equivalentTo |
Myiasis |
|
|
MONDO:0863154 |
oligocone trichromacy |
GARD:18925 |
MONDO:equivalentTo |
Oligocone trichromacy |
|
|
MONDO:0863155 |
brain malformation-congenital heart disease-postaxial polydactyly syndrome |
GARD:18926 |
MONDO:equivalentTo |
Brain malformation-congenital heart disease-postaxial polydactyly syndrome |
|
|
MONDO:0863156 |
angioosteohypotrophic syndrome |
GARD:18927 |
MONDO:equivalentTo |
Angioosteohypotrophic syndrome |
|
|
MONDO:0863157 |
tropical endomyocardial fibrosis |
GARD:18928 |
MONDO:equivalentTo |
Tropical endomyocardial fibrosis |
|
|
MONDO:0863158 |
loeffler endocarditis |
GARD:18929 |
MONDO:equivalentTo |
Loeffler endocarditis |
|
|
MONDO:0863159 |
primary progressive freezing gait |
GARD:18930 |
MONDO:equivalentTo |
Primary progressive freezing gait |
|
|
MONDO:0863160 |
6q terminal deletion syndrome |
GARD:18931 |
MONDO:equivalentTo |
6q terminal deletion syndrome |
|
|
MONDO:0863161 |
primary lymphedema |
GARD:18932 |
MONDO:equivalentTo |
Primary lymphedema |
|
|
MONDO:0863162 |
auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome |
GARD:18933 |
MONDO:equivalentTo |
Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome |
|
|
MONDO:0863163 |
monosomy 9q22.3 |
GARD:18934 |
MONDO:equivalentTo |
Monosomy 9q22.3 |
|
|
MONDO:0863164 |
genetic obesity |
GARD:18935 |
MONDO:equivalentTo |
Genetic obesity |
|
|
MONDO:0863165 |
rare genetic odontologic disease |
GARD:18936 |
MONDO:equivalentTo |
Rare genetic odontologic disease |
|
|
MONDO:0863166 |
disorder of amino acid and other organic acid metabolism |
GARD:18937 |
MONDO:equivalentTo |
Disorder of amino acid and other organic acid metabolism |
|
|
MONDO:0863167 |
folinic acid-responsive seizures |
GARD:18938 |
MONDO:equivalentTo |
Folinic acid-responsive seizures |
|
|
MONDO:0863168 |
sympathetic ophthalmia |
GARD:18939 |
MONDO:equivalentTo |
Sympathetic ophthalmia |
|
|
MONDO:0863169 |
von voss-cherstvoy syndrome |
GARD:1894 |
MONDO:equivalentTo |
Von Voss-Cherstvoy syndrome |
|
|
MONDO:0863170 |
interstitial granulomatous dermatitis with arthritis |
GARD:18940 |
MONDO:equivalentTo |
Interstitial granulomatous dermatitis with arthritis |
|
|
MONDO:0863171 |
myxofibrosarcoma |
GARD:18941 |
MONDO:equivalentTo |
Myxofibrosarcoma |
|
|
MONDO:0863172 |
respiratory bronchiolitis-interstitial lung disease syndrome |
GARD:18942 |
MONDO:equivalentTo |
Respiratory bronchiolitis-interstitial lung disease syndrome |
|
|
MONDO:0863173 |
trichodysplasia-amelogenesis imperfecta syndrome |
GARD:18943 |
MONDO:equivalentTo |
Trichodysplasia-amelogenesis imperfecta syndrome |
|
|
MONDO:0863174 |
bickerstaff brainstem encephalitis |
GARD:18944 |
MONDO:equivalentTo |
Bickerstaff brainstem encephalitis |
|
|
MONDO:0863175 |
cerebral organic aciduria |
GARD:18945 |
MONDO:equivalentTo |
Cerebral organic aciduria |
|
|
MONDO:0863176 |
disorder of carbohydrate metabolism |
GARD:18946 |
MONDO:equivalentTo |
Disorder of carbohydrate metabolism |
|
|
MONDO:0863177 |
classic organic aciduria |
GARD:18947 |
MONDO:equivalentTo |
Classic organic aciduria |
|
|
MONDO:0863178 |
disorder of amino acid absorption and transport |
GARD:18948 |
MONDO:equivalentTo |
Disorder of amino acid absorption and transport |
|
|
MONDO:0863179 |
disorder of bile acid synthesis |
GARD:18949 |
MONDO:equivalentTo |
Disorder of bile acid synthesis |
|
|
MONDO:0863180 |
disorder of neurotransmitter metabolism and transport |
GARD:18950 |
MONDO:equivalentTo |
Disorder of neurotransmitter metabolism and transport |
|
|
MONDO:0863181 |
disorder of cobalamin metabolism and transport |
GARD:18951 |
MONDO:equivalentTo |
Disorder of cobalamin metabolism and transport |
|
|
MONDO:0863182 |
creatine deficiency syndrome |
GARD:18952 |
MONDO:equivalentTo |
Creatine deficiency syndrome |
|
|
MONDO:0863183 |
disorder of methionine cycle and sulfur amino acid metabolism |
GARD:18953 |
MONDO:equivalentTo |
Disorder of methionine cycle and sulfur amino acid metabolism |
|
|
MONDO:0863184 |
disorder of fatty acid oxidation and ketone body metabolism |
GARD:18954 |
MONDO:equivalentTo |
Disorder of fatty acid oxidation and ketone body metabolism |
|
|
MONDO:0863185 |
disorder of gamma-aminobutyric acid metabolism |
GARD:18955 |
MONDO:equivalentTo |
Disorder of gamma-aminobutyric acid metabolism |
|
|
MONDO:0863186 |
gluconeogenesis disorder |
GARD:18956 |
MONDO:equivalentTo |
Gluconeogenesis disorder |
|
|
MONDO:0863187 |
glucose transport disorder |
GARD:18957 |
MONDO:equivalentTo |
Glucose transport disorder |
|
|
MONDO:0863188 |
disorder of glycerol metabolism |
GARD:18958 |
MONDO:equivalentTo |
Disorder of glycerol metabolism |
|
|
MONDO:0863189 |
disorder of histidine metabolism |
GARD:18959 |
MONDO:equivalentTo |
Disorder of histidine metabolism |
|
|
MONDO:0863190 |
cleft palate |
GARD:1896 |
MONDO:equivalentTo |
Cleft palate |
|
|
MONDO:0863191 |
disorder of ketolysis |
GARD:18960 |
MONDO:equivalentTo |
Disorder of ketolysis |
|
|
MONDO:0863192 |
disorder of ornithine or proline metabolism |
GARD:18961 |
MONDO:equivalentTo |
Disorder of ornithine or proline metabolism |
|
|
MONDO:0863193 |
disorder of pentose phosphate metabolism |
GARD:18962 |
MONDO:equivalentTo |
Disorder of pentose phosphate metabolism |
|
|
MONDO:0863194 |
disorder of peptide metabolism |
GARD:18963 |
MONDO:equivalentTo |
Disorder of peptide metabolism |
|
|
MONDO:0863195 |
disorder of phenylalanin or tyrosine metabolism |
GARD:18964 |
MONDO:equivalentTo |
Disorder of phenylalanin or tyrosine metabolism |
|
|
MONDO:0863196 |
disorder of purine metabolism |
GARD:18965 |
MONDO:equivalentTo |
Disorder of purine metabolism |
|
|
MONDO:0863197 |
disorder of pyridoxine metabolism |
GARD:18966 |
MONDO:equivalentTo |
Disorder of pyridoxine metabolism |
|
|
MONDO:0863198 |
disorder of pyrimidine metabolism |
GARD:18967 |
MONDO:equivalentTo |
Disorder of pyrimidine metabolism |
|
|
MONDO:0863199 |
disorder of serine or glycine metabolism |
GARD:18968 |
MONDO:equivalentTo |
Disorder of serine or glycine metabolism |
|
|
MONDO:0863200 |
sterol biosynthesis disorder |
GARD:18969 |
MONDO:equivalentTo |
Sterol biosynthesis disorder |
|
|
MONDO:0863201 |
disorder of the gamma-glutamyl cycle |
GARD:18970 |
MONDO:equivalentTo |
Disorder of the gamma-glutamyl cycle |
|
|
MONDO:0863202 |
disorder of branched-chain amino acid metabolism |
GARD:18971 |
MONDO:equivalentTo |
Disorder of branched-chain amino acid metabolism |
|
|
MONDO:0863203 |
disorder of energy metabolism |
GARD:18972 |
MONDO:equivalentTo |
Disorder of energy metabolism |
|
|
MONDO:0863204 |
glycogen storage disease |
GARD:18973 |
MONDO:equivalentTo |
Glycogen storage disease |
|
|
MONDO:0863205 |
disorder of lysosomal amino acid transport |
GARD:18974 |
MONDO:equivalentTo |
Disorder of lysosomal amino acid transport |
|
|
MONDO:0863206 |
mucolipidosis |
GARD:18975 |
MONDO:equivalentTo |
Mucolipidosis |
|
|
MONDO:0863207 |
disorder of biogenic amine metabolism and transport |
GARD:18976 |
MONDO:equivalentTo |
Disorder of biogenic amine metabolism and transport |
|
|
MONDO:0863208 |
oligosaccharidosis |
GARD:18977 |
MONDO:equivalentTo |
Oligosaccharidosis |
|
|
MONDO:0863209 |
other metabolic disease with skin involvement |
GARD:18978 |
MONDO:equivalentTo |
Other metabolic disease with skin involvement |
|
|
MONDO:0863210 |
metabolic disease involving other neurotransmitter deficiency |
GARD:18979 |
MONDO:equivalentTo |
Metabolic disease involving other neurotransmitter deficiency |
|
|
MONDO:0863211 |
early-onset zonular cataract |
GARD:1898 |
MONDO:equivalentTo |
Early-onset zonular cataract |
|
|
MONDO:0863212 |
disorder of purine or pyrimidine metabolism |
GARD:18980 |
MONDO:equivalentTo |
Disorder of purine or pyrimidine metabolism |
|
|
MONDO:0863213 |
sterol metabolism disorder |
GARD:18981 |
MONDO:equivalentTo |
Sterol metabolism disorder |
|
|
MONDO:0863214 |
classic phenylketonuria |
GARD:18982 |
MONDO:equivalentTo |
Classic phenylketonuria |
|
|
MONDO:0863215 |
diazoxide-resistant focal hyperinsulinism |
GARD:18983 |
MONDO:equivalentTo |
Diazoxide-resistant focal hyperinsulinism |
|
|
MONDO:0863216 |
epidermal disease |
GARD:18984 |
MONDO:equivalentTo |
Epidermal disease |
|
|
MONDO:0863217 |
ichthyosis |
GARD:18985 |
MONDO:equivalentTo |
Ichthyosis |
|
|
MONDO:0863218 |
erythrokeratoderma |
GARD:18986 |
MONDO:equivalentTo |
Erythrokeratoderma |
|
|
MONDO:0863219 |
acrokeratoderma |
GARD:18987 |
MONDO:equivalentTo |
Acrokeratoderma |
|
|
MONDO:0863220 |
hereditary palmoplantar keratoderma |
GARD:18988 |
MONDO:equivalentTo |
Hereditary palmoplantar keratoderma |
|
|
MONDO:0863221 |
porokeratosis |
GARD:18989 |
MONDO:equivalentTo |
Porokeratosis |
|
|
MONDO:0863222 |
donnai-barrow syndrome |
GARD:1899 |
MONDO:equivalentTo |
Donnai-Barrow syndrome |
|
|
MONDO:0863223 |
other epidermal disorder |
GARD:18990 |
MONDO:equivalentTo |
Other epidermal disorder |
|
|
MONDO:0863224 |
other genetic epidermal disease |
GARD:18991 |
MONDO:equivalentTo |
Other genetic epidermal disease |
|
|
MONDO:0863225 |
inherited epidermolysis bullosa |
GARD:18992 |
MONDO:equivalentTo |
Inherited epidermolysis bullosa |
|
|
MONDO:0863226 |
epidermal appendage anomaly |
GARD:18993 |
MONDO:equivalentTo |
Epidermal appendage anomaly |
|
|
MONDO:0863227 |
hair anomaly |
GARD:18994 |
MONDO:equivalentTo |
Hair anomaly |
|
|
MONDO:0863228 |
alopecia |
GARD:18995 |
MONDO:equivalentTo |
Alopecia |
|
|
MONDO:0863229 |
rare disorder with hypertrichosis |
GARD:18996 |
MONDO:equivalentTo |
Rare disorder with hypertrichosis |
|
|
MONDO:0863230 |
isolated hair shaft abnormality |
GARD:18997 |
MONDO:equivalentTo |
Isolated hair shaft abnormality |
|
|
MONDO:0863231 |
syndromic hair shaft abnormality |
GARD:18998 |
MONDO:equivalentTo |
Syndromic hair shaft abnormality |
|
|
MONDO:0863232 |
nail anomaly |
GARD:18999 |
MONDO:equivalentTo |
Nail anomaly |
|
|
MONDO:0863233 |
dihydropyrimidine dehydrogenase deficiency |
GARD:19 |
MONDO:equivalentTo |
Dihydropyrimidine dehydrogenase deficiency |
|
|
MONDO:0863234 |
isolated nail anomaly |
GARD:19000 |
MONDO:equivalentTo |
Isolated nail anomaly |
|
|
MONDO:0863235 |
syndromic nail anomaly |
GARD:19001 |
MONDO:equivalentTo |
Syndromic nail anomaly |
|
|
MONDO:0863236 |
sebaceous gland anomaly |
GARD:19002 |
MONDO:equivalentTo |
Sebaceous gland anomaly |
|
|
MONDO:0863237 |
pigmentation anomaly of the skin |
GARD:19003 |
MONDO:equivalentTo |
Pigmentation anomaly of the skin |
|
|
MONDO:0863238 |
hyperpigmentation of the skin |
GARD:19004 |
MONDO:equivalentTo |
Hyperpigmentation of the skin |
|
|
MONDO:0863239 |
hypopigmentation of the skin |
GARD:19005 |
MONDO:equivalentTo |
Hypopigmentation of the skin |
|
|
MONDO:0863240 |
dermis disorder |
GARD:19006 |
MONDO:equivalentTo |
Dermis disorder |
|
|
MONDO:0863241 |
dermis elastic tissue disorder |
GARD:19007 |
MONDO:equivalentTo |
Dermis elastic tissue disorder |
|
|
MONDO:0863242 |
skin vascular disease |
GARD:19008 |
MONDO:equivalentTo |
Skin vascular disease |
|
|
MONDO:0863243 |
mixed dermis disorder |
GARD:19009 |
MONDO:equivalentTo |
Mixed dermis disorder |
|
|
MONDO:0863244 |
other dermis disorder |
GARD:19010 |
MONDO:equivalentTo |
Other dermis disorder |
|
|
MONDO:0863245 |
subcutaneous tissue disease |
GARD:19011 |
MONDO:equivalentTo |
Subcutaneous tissue disease |
|
|
MONDO:0863246 |
rare urticaria |
GARD:19012 |
MONDO:equivalentTo |
Rare urticaria |
|
|
MONDO:0863247 |
unclassified genetic skin disorder |
GARD:19013 |
MONDO:equivalentTo |
Unclassified genetic skin disorder |
|
|
MONDO:0863248 |
rare skin tumor or hamartoma |
GARD:19014 |
MONDO:equivalentTo |
Rare skin tumor or hamartoma |
|
|
MONDO:0863249 |
metabolic disease with skin involvement |
GARD:19015 |
MONDO:equivalentTo |
Metabolic disease with skin involvement |
|
|
MONDO:0863250 |
mucopolysaccharidosis with skin involvement |
GARD:19016 |
MONDO:equivalentTo |
Mucopolysaccharidosis with skin involvement |
|
|
MONDO:0863251 |
premature aging |
GARD:19017 |
MONDO:equivalentTo |
Premature aging |
|
|
MONDO:0863252 |
rare photodermatosis |
GARD:19018 |
MONDO:equivalentTo |
Rare photodermatosis |
|
|
MONDO:0863253 |
immune deficiency with skin involvement |
GARD:19019 |
MONDO:equivalentTo |
Immune deficiency with skin involvement |
|
|
MONDO:0863254 |
autosomal recessive dopa-responsive dystonia |
GARD:1902 |
MONDO:equivalentTo |
Autosomal recessive dopa-responsive dystonia |
|
|
MONDO:0863255 |
verrucous nevus |
GARD:19020 |
MONDO:equivalentTo |
Verrucous nevus |
|
|
MONDO:0863256 |
pemphigus vegetans |
GARD:19021 |
MONDO:equivalentTo |
Pemphigus vegetans |
|
|
MONDO:0863257 |
pemphigus erythematosus |
GARD:19022 |
MONDO:equivalentTo |
Pemphigus erythematosus |
|
|
MONDO:0863258 |
phakomatosis cesioflammea |
GARD:19023 |
MONDO:equivalentTo |
Phakomatosis cesioflammea |
|
|
MONDO:0863259 |
phakomatosis cesiomarmorata |
GARD:19024 |
MONDO:equivalentTo |
Phakomatosis cesiomarmorata |
|
|
MONDO:0863260 |
phakomatosis spilorosea |
GARD:19025 |
MONDO:equivalentTo |
Phakomatosis spilorosea |
|
|
MONDO:0863261 |
pili gemini |
GARD:19026 |
MONDO:equivalentTo |
Pili gemini |
|
|
MONDO:0863262 |
mild hyperphenylalaninemia |
GARD:19027 |
MONDO:equivalentTo |
Mild hyperphenylalaninemia |
|
|
MONDO:0863263 |
autoimmune bullous skin disease |
GARD:19028 |
MONDO:equivalentTo |
Autoimmune bullous skin disease |
|
|
MONDO:0863264 |
urogenital tract malformation |
GARD:19029 |
MONDO:equivalentTo |
Urogenital tract malformation |
|
|
MONDO:0863265 |
dopamine beta-hydroxylase deficiency |
GARD:1903 |
MONDO:equivalentTo |
Dopamine beta-hydroxylase deficiency |
|
|
MONDO:0863266 |
rickettsialpox |
GARD:19030 |
MONDO:equivalentTo |
Rickettsialpox |
|
|
MONDO:0863267 |
boutonneuse fever |
GARD:19031 |
MONDO:equivalentTo |
Boutonneuse fever |
|
|
MONDO:0863268 |
epidemic typhus |
GARD:19032 |
MONDO:equivalentTo |
Epidemic typhus |
|
|
MONDO:0863269 |
murine typhus |
GARD:19033 |
MONDO:equivalentTo |
Murine typhus |
|
|
MONDO:0863270 |
pseudotyphus of california |
GARD:19034 |
MONDO:equivalentTo |
Pseudotyphus of California |
|
|
MONDO:0863271 |
scrub typhus |
GARD:19035 |
MONDO:equivalentTo |
Scrub typhus |
|
|
MONDO:0863272 |
regional odontodysplasia |
GARD:19036 |
MONDO:equivalentTo |
Regional odontodysplasia |
|
|
MONDO:0863273 |
vulvovaginal gingival syndrome |
GARD:19037 |
MONDO:equivalentTo |
Vulvovaginal gingival syndrome |
|
|
MONDO:0863274 |
narcolepsy type 2 |
GARD:19038 |
MONDO:equivalentTo |
Narcolepsy type 2 |
|
|
MONDO:0863275 |
solitary bone cyst |
GARD:19039 |
MONDO:equivalentTo |
Solitary bone cyst |
|
|
MONDO:0863276 |
subcortical band heterotopia |
GARD:1904 |
MONDO:equivalentTo |
Subcortical band heterotopia |
|
|
MONDO:0863277 |
mycoplasma encephalitis |
GARD:19040 |
MONDO:equivalentTo |
Mycoplasma encephalitis |
|
|
MONDO:0863278 |
st. louis encephalitis |
GARD:19041 |
MONDO:equivalentTo |
St. Louis encephalitis |
|
|
MONDO:0863279 |
colorado tick fever |
GARD:19042 |
MONDO:equivalentTo |
Colorado tick fever |
|
|
MONDO:0863280 |
rubella panencephalitis |
GARD:19043 |
MONDO:equivalentTo |
Rubella panencephalitis |
|
|
MONDO:0863281 |
macrostomia-preauricular tags-external ophthalmoplegia syndrome |
GARD:19044 |
MONDO:equivalentTo |
Macrostomia-preauricular tags-external ophthalmoplegia syndrome |
|
|
MONDO:0863282 |
lumbar syndrome |
GARD:19045 |
MONDO:equivalentTo |
LUMBAR syndrome |
|
|
MONDO:0863283 |
idiopathic malabsorption due to bile acid synthesis defects |
GARD:19046 |
MONDO:equivalentTo |
Idiopathic malabsorption due to bile acid synthesis defects |
|
|
MONDO:0863284 |
hinman syndrome |
GARD:19047 |
MONDO:equivalentTo |
Hinman syndrome |
|
|
MONDO:0863285 |
collagen type iii glomerulopathy |
GARD:19048 |
MONDO:equivalentTo |
Collagen type III glomerulopathy |
|
|
MONDO:0863286 |
craniofacial conodysplasia |
GARD:19049 |
MONDO:equivalentTo |
Craniofacial conodysplasia |
|
|
MONDO:0863287 |
astley-kendall dysplasia |
GARD:19050 |
MONDO:equivalentTo |
Astley-Kendall dysplasia |
|
|
MONDO:0863288 |
dysspondyloenchondromatosis |
GARD:19051 |
MONDO:equivalentTo |
Dysspondyloenchondromatosis |
|
|
MONDO:0863289 |
ischiovertebral syndrome |
GARD:19052 |
MONDO:equivalentTo |
Ischiovertebral syndrome |
|
|
MONDO:0863290 |
x-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome |
GARD:19053 |
MONDO:equivalentTo |
X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome |
|
|
MONDO:0863291 |
x-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome |
GARD:19054 |
MONDO:equivalentTo |
X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome |
|
|
MONDO:0863292 |
x-linked intellectual disability-macrocephaly-macroorchidism syndrome |
GARD:19055 |
MONDO:equivalentTo |
X-linked intellectual disability-macrocephaly-macroorchidism syndrome |
|
|
MONDO:0863293 |
x-linked intellectual disability, pai type |
GARD:19056 |
MONDO:equivalentTo |
X-linked intellectual disability, Pai type |
|
|
MONDO:0863294 |
x-linked intellectual disability, seemanova type |
GARD:19057 |
MONDO:equivalentTo |
X-linked intellectual disability, Seemanova type |
|
|
MONDO:0863295 |
x-linked intellectual disability, stevenson type |
GARD:19058 |
MONDO:equivalentTo |
X-linked intellectual disability, Stevenson type |
|
|
MONDO:0863296 |
x-linked intellectual disability, stoll type |
GARD:19059 |
MONDO:equivalentTo |
X-linked intellectual disability, Stoll type |
|
|
MONDO:0863297 |
x-linked intellectual disability-acromegaly-hyperactivity syndrome |
GARD:19060 |
MONDO:equivalentTo |
X-linked intellectual disability-acromegaly-hyperactivity syndrome |
|
|
MONDO:0863298 |
x-linked neurodegenerative syndrome, bertini type |
GARD:19061 |
MONDO:equivalentTo |
X-linked neurodegenerative syndrome, Bertini type |
|
|
MONDO:0863299 |
x-linked neurodegenerative syndrome, hamel type |
GARD:19062 |
MONDO:equivalentTo |
X-linked neurodegenerative syndrome, Hamel type |
|
|
MONDO:0863300 |
x-linked intellectual disability-ataxia-apraxia syndrome |
GARD:19063 |
MONDO:equivalentTo |
X-linked intellectual disability-ataxia-apraxia syndrome |
|
|
MONDO:0863301 |
rheumatoid factor-positive polyarticular juvenile idiopathic arthritis |
GARD:19064 |
MONDO:equivalentTo |
Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis |
|
|
MONDO:0863302 |
wild type abeta2m amyloidosis |
GARD:19065 |
MONDO:equivalentTo |
Wild type ABeta2M amyloidosis |
|
|
MONDO:0863303 |
atypical lichen myxedematosus |
GARD:19066 |
MONDO:equivalentTo |
Atypical lichen myxedematosus |
|
|
MONDO:0863304 |
lissencephaly type 3-familial fetal akinesia sequence syndrome |
GARD:19067 |
MONDO:equivalentTo |
Lissencephaly type 3-familial fetal akinesia sequence syndrome |
|
|
MONDO:0863305 |
lissencephaly with cerebellar hypoplasia |
GARD:19068 |
MONDO:equivalentTo |
Lissencephaly with cerebellar hypoplasia |
|
|
MONDO:0863306 |
refractory cytopenia with multilineage dysplasia |
GARD:19069 |
MONDO:equivalentTo |
Refractory cytopenia with multilineage dysplasia |
|
|
MONDO:0863307 |
double outlet left ventricle |
GARD:1907 |
MONDO:equivalentTo |
Double outlet left ventricle |
|
|
MONDO:0863308 |
refractory anemia with excess blasts |
GARD:19070 |
MONDO:equivalentTo |
Refractory anemia with excess blasts |
|
|
MONDO:0863309 |
acute basophilic leukemia |
GARD:19071 |
MONDO:equivalentTo |
Acute basophilic leukemia |
|
|
MONDO:0863310 |
splenic marginal zone lymphoma |
GARD:19072 |
MONDO:equivalentTo |
Splenic marginal zone lymphoma |
|
|
MONDO:0863311 |
non-amyloid monoclonal immunoglobulin deposition disease |
GARD:19073 |
MONDO:equivalentTo |
Non-amyloid monoclonal immunoglobulin deposition disease |
|
|
MONDO:0863312 |
heavy chain disease |
GARD:19074 |
MONDO:equivalentTo |
Heavy chain disease |
|
|
MONDO:0863313 |
nodal marginal zone b-cell lymphoma |
GARD:19075 |
MONDO:equivalentTo |
Nodal marginal zone B-cell lymphoma |
|
|
MONDO:0863314 |
adult t-cell leukemia/lymphoma |
GARD:19076 |
MONDO:equivalentTo |
Adult T-cell leukemia/lymphoma |
|
|
MONDO:0863315 |
hepatosplenic t-cell lymphoma |
GARD:19077 |
MONDO:equivalentTo |
Hepatosplenic T-cell lymphoma |
|
|
MONDO:0863316 |
primary cutaneous peripheral t-cell lymphoma not otherwise specified |
GARD:19078 |
MONDO:equivalentTo |
Primary cutaneous peripheral T-cell lymphoma not otherwise specified |
|
|
MONDO:0863317 |
nodular lymphocyte predominant hodgkin lymphoma |
GARD:19079 |
MONDO:equivalentTo |
Nodular lymphocyte predominant Hodgkin lymphoma |
|
|
MONDO:0863318 |
double outlet right ventricle |
GARD:1908 |
MONDO:equivalentTo |
Double outlet right ventricle |
|
|
MONDO:0863319 |
histiocytic sarcoma |
GARD:19080 |
MONDO:equivalentTo |
Histiocytic sarcoma |
|
|
MONDO:0863320 |
follicular dendritic cell sarcoma |
GARD:19081 |
MONDO:equivalentTo |
Follicular dendritic cell sarcoma |
|
|
MONDO:0863321 |
dendritic cell sarcoma not otherwise specified |
GARD:19082 |
MONDO:equivalentTo |
Dendritic cell sarcoma not otherwise specified |
|
|
MONDO:0863322 |
methotrexate-associated lymphoproliferative disorders |
GARD:19083 |
MONDO:equivalentTo |
Methotrexate-associated lymphoproliferative disorders |
|
|
MONDO:0863323 |
hypothalamic hamartomas with gelastic seizures |
GARD:19084 |
MONDO:equivalentTo |
Hypothalamic hamartomas with gelastic seizures |
|
|
MONDO:0863324 |
idiopathic hemiconvulsion-hemiplegia syndrome |
GARD:19085 |
MONDO:equivalentTo |
Idiopathic hemiconvulsion-hemiplegia syndrome |
|
|
MONDO:0863325 |
myoclonic epilepsy of infancy |
GARD:19086 |
MONDO:equivalentTo |
Myoclonic epilepsy of infancy |
|
|
MONDO:0863326 |
epilepsy with myoclonic absences |
GARD:19087 |
MONDO:equivalentTo |
Epilepsy with myoclonic absences |
|
|
MONDO:0863327 |
myoclonic epilepsy in non-progressive encephalopathies |
GARD:19088 |
MONDO:equivalentTo |
Myoclonic epilepsy in non-progressive encephalopathies |
|
|
MONDO:0863328 |
diffuse palmoplantar keratoderma-acrocyanosis syndrome |
GARD:19089 |
MONDO:equivalentTo |
Diffuse palmoplantar keratoderma-acrocyanosis syndrome |
|
|
MONDO:0863329 |
rare intellectual disability |
GARD:19090 |
MONDO:equivalentTo |
Rare intellectual disability |
|
|
MONDO:0863330 |
non-syndromic genetic deafness |
GARD:19091 |
MONDO:equivalentTo |
Non-syndromic genetic deafness |
|
|
MONDO:0863331 |
obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome |
GARD:19092 |
MONDO:equivalentTo |
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome |
|
|
MONDO:0863332 |
hypertension due to gain-of-function mutations in the mineralocorticoid receptor |
GARD:19093 |
MONDO:equivalentTo |
Hypertension due to gain-of-function mutations in the mineralocorticoid receptor |
|
|
MONDO:0863333 |
rare congenital non-syndromic heart malformation |
GARD:19094 |
MONDO:equivalentTo |
Rare congenital non-syndromic heart malformation |
|
|
MONDO:0863334 |
esophageal malformation |
GARD:19095 |
MONDO:equivalentTo |
Esophageal malformation |
|
|
MONDO:0863335 |
rare dementia |
GARD:19096 |
MONDO:equivalentTo |
Rare dementia |
|
|
MONDO:0863336 |
undifferentiated connective tissue syndrome |
GARD:19097 |
MONDO:equivalentTo |
Undifferentiated connective tissue syndrome |
|
|
MONDO:0863337 |
inflammatory pseudotumor of the liver |
GARD:19098 |
MONDO:equivalentTo |
Inflammatory pseudotumor of the liver |
|
|
MONDO:0863338 |
radiation myelitis |
GARD:19099 |
MONDO:equivalentTo |
Radiation myelitis |
|
|
MONDO:0863339 |
double uterus-hemivagina-renal agenesis syndrome |
GARD:1910 |
MONDO:equivalentTo |
Double uterus-hemivagina-renal agenesis syndrome |
|
|
MONDO:0863340 |
non-syndromic syndactyly |
GARD:19100 |
MONDO:equivalentTo |
Non-syndromic syndactyly |
|
|
MONDO:0863341 |
mixed-type autoimmune hemolytic anemia |
GARD:19101 |
MONDO:equivalentTo |
Mixed-type autoimmune hemolytic anemia |
|
|
MONDO:0863342 |
drug-induced autoimmune hemolytic anemia |
GARD:19102 |
MONDO:equivalentTo |
Drug-induced autoimmune hemolytic anemia |
|
|
MONDO:0863343 |
hemoglobin d disease |
GARD:19103 |
MONDO:equivalentTo |
Hemoglobin D disease |
|
|
MONDO:0863344 |
gaisböck syndrome |
GARD:19104 |
MONDO:equivalentTo |
Gaisböck syndrome |
|
|
MONDO:0863345 |
sepsis in premature infants |
GARD:19105 |
MONDO:equivalentTo |
Sepsis in premature infants |
|
|
MONDO:0863346 |
recurrent hepatitis c virus induced liver disease in liver transplant recipients |
GARD:19106 |
MONDO:equivalentTo |
Recurrent hepatitis C virus induced liver disease in liver transplant recipients |
|
|
MONDO:0863347 |
complications after hematopoietic stem cell transplantation |
GARD:19107 |
MONDO:equivalentTo |
Complications after hematopoietic stem cell transplantation |
|
|
MONDO:0863348 |
moderate and severe traumatic brain injury |
GARD:19108 |
MONDO:equivalentTo |
Moderate and severe traumatic brain injury |
|
|
MONDO:0863349 |
spinal cord injury |
GARD:19109 |
MONDO:equivalentTo |
Spinal cord injury |
|
|
MONDO:0863350 |
diffuse alveolar hemorrhage |
GARD:19110 |
MONDO:equivalentTo |
Diffuse alveolar hemorrhage |
|
|
MONDO:0863351 |
non-infectious posterior uveitis |
GARD:19111 |
MONDO:equivalentTo |
Non-infectious posterior uveitis |
|
|
MONDO:0863352 |
acute liver failure |
GARD:19112 |
MONDO:equivalentTo |
Acute liver failure |
|
|
MONDO:0863353 |
acute peripheral arterial occlusion |
GARD:19113 |
MONDO:equivalentTo |
Acute peripheral arterial occlusion |
|
|
MONDO:0863354 |
acquired aneurysmal subarachnoid hemorrhage |
GARD:19114 |
MONDO:equivalentTo |
Acquired aneurysmal subarachnoid hemorrhage |
|
|
MONDO:0863355 |
cocaine intoxication |
GARD:19115 |
MONDO:equivalentTo |
Cocaine intoxication |
|
|
MONDO:0863356 |
systemic monochloroacetate poisoning |
GARD:19116 |
MONDO:equivalentTo |
Systemic monochloroacetate poisoning |
|
|
MONDO:0863357 |
hepatitis b reinfection following liver transplantation |
GARD:19117 |
MONDO:equivalentTo |
Hepatitis B reinfection following liver transplantation |
|
|
MONDO:0863358 |
partial deep dermal and full thickness burns |
GARD:19118 |
MONDO:equivalentTo |
Partial deep dermal and full thickness burns |
|
|
MONDO:0863359 |
other acquired skin disease |
GARD:19119 |
MONDO:equivalentTo |
Other acquired skin disease |
|
|
MONDO:0863360 |
familial drusen |
GARD:1912 |
MONDO:equivalentTo |
Familial drusen |
|
|
MONDO:0863361 |
invasive infections due to vancomycin-resistant enterococci |
GARD:19120 |
MONDO:equivalentTo |
Invasive infections due to vancomycin-resistant enterococci |
|
|
MONDO:0863362 |
scarring in glaucoma filtration surgical procedures |
GARD:19121 |
MONDO:equivalentTo |
Scarring in glaucoma filtration surgical procedures |
|
|
MONDO:0863363 |
aids wasting syndrome |
GARD:19122 |
MONDO:equivalentTo |
AIDS wasting syndrome |
|
|
MONDO:0863364 |
severe early-onset axonal neuropathy due to mfn2 deficiency |
GARD:19123 |
MONDO:equivalentTo |
Severe early-onset axonal neuropathy due to MFN2 deficiency |
|
|
MONDO:0863365 |
hereditary motor and sensory neuropathy with acrodystrophy |
GARD:19124 |
MONDO:equivalentTo |
Hereditary motor and sensory neuropathy with acrodystrophy |
|
|
MONDO:0863366 |
centrifugal lipodystrophy |
GARD:19125 |
MONDO:equivalentTo |
Centrifugal lipodystrophy |
|
|
MONDO:0863367 |
drug-induced localized lipodystrophy |
GARD:19126 |
MONDO:equivalentTo |
Drug-induced localized lipodystrophy |
|
|
MONDO:0863368 |
idiopathic localized lipodystrophy |
GARD:19127 |
MONDO:equivalentTo |
Idiopathic localized lipodystrophy |
|
|
MONDO:0863369 |
panniculitis-induced localized lipodystrophy |
GARD:19128 |
MONDO:equivalentTo |
Panniculitis-induced localized lipodystrophy |
|
|
MONDO:0863370 |
pressure-induced localized lipoatrophy |
GARD:19129 |
MONDO:equivalentTo |
Pressure-induced localized lipoatrophy |
|
|
MONDO:0863371 |
chilblain lupus |
GARD:19130 |
MONDO:equivalentTo |
Chilblain lupus |
|
|
MONDO:0863372 |
discoid lupus erythematosus |
GARD:19131 |
MONDO:equivalentTo |
Discoid lupus erythematosus |
|
|
MONDO:0863373 |
hypertrophic or verrucous lupus erythematosus |
GARD:19132 |
MONDO:equivalentTo |
Hypertrophic or verrucous lupus erythematosus |
|
|
MONDO:0863374 |
lupus erythematosus panniculitis |
GARD:19133 |
MONDO:equivalentTo |
Lupus erythematosus panniculitis |
|
|
MONDO:0863375 |
autosomal recessive cutis laxa type 2 |
GARD:19134 |
MONDO:equivalentTo |
Autosomal recessive cutis laxa type 2 |
|
|
MONDO:0863376 |
secondary intestinal lymphangiectasia |
GARD:19135 |
MONDO:equivalentTo |
Secondary intestinal lymphangiectasia |
|
|
MONDO:0863377 |
telangiectasia macularis eruptiva perstans |
GARD:19136 |
MONDO:equivalentTo |
Telangiectasia macularis eruptiva perstans |
|
|
MONDO:0863378 |
nodular lichen myxedematosus |
GARD:19137 |
MONDO:equivalentTo |
Nodular lichen myxedematosus |
|
|
MONDO:0863379 |
discrete papular lichen myxedematosus |
GARD:19138 |
MONDO:equivalentTo |
Discrete papular lichen myxedematosus |
|
|
MONDO:0863380 |
papular mucinosis of infancy |
GARD:19139 |
MONDO:equivalentTo |
Papular mucinosis of infancy |
|
|
MONDO:0863381 |
acral persistent papular mucinosis |
GARD:19140 |
MONDO:equivalentTo |
Acral persistent papular mucinosis |
|
|
MONDO:0863382 |
self-healing papular mucinosis |
GARD:19141 |
MONDO:equivalentTo |
Self-healing papular mucinosis |
|
|
MONDO:0863383 |
localized lichen myxedematosus with mixed features of different subtypes |
GARD:19142 |
MONDO:equivalentTo |
Localized lichen myxedematosus with mixed features of different subtypes |
|
|
MONDO:0863384 |
localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms |
GARD:19143 |
MONDO:equivalentTo |
Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms |
|
|
MONDO:0863385 |
scleromyxedema without monoclonal gammopathy |
GARD:19144 |
MONDO:equivalentTo |
Scleromyxedema without monoclonal gammopathy |
|
|
MONDO:0863386 |
syndromic genetic deafness |
GARD:19145 |
MONDO:equivalentTo |
Syndromic genetic deafness |
|
|
MONDO:0863387 |
rare endocrine growth disease |
GARD:19146 |
MONDO:equivalentTo |
Rare endocrine growth disease |
|
|
MONDO:0863388 |
disorder of sex development |
GARD:19147 |
MONDO:equivalentTo |
Disorder of sex development |
|
|
MONDO:0863389 |
46,xx disorder of sex development induced by fetal androgens excess |
GARD:19148 |
MONDO:equivalentTo |
46,XX disorder of sex development induced by fetal androgens excess |
|
|
MONDO:0863390 |
46,xy disorder of sex development due to a testosterone synthesis defect |
GARD:19149 |
MONDO:equivalentTo |
46,XY disorder of sex development due to a testosterone synthesis defect |
|
|
MONDO:0863391 |
46,xy disorder of sex development due to adrenal and testicular steroidogenesis defect |
GARD:19150 |
MONDO:equivalentTo |
46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect |
|
|
MONDO:0863392 |
46,xy disorder of sex development due to testicular steroidogenesis defect |
GARD:19151 |
MONDO:equivalentTo |
46,XY disorder of sex development due to testicular steroidogenesis defect |
|
|
MONDO:0863393 |
other metabolic disease |
GARD:19152 |
MONDO:equivalentTo |
Other metabolic disease |
|
|
MONDO:0863394 |
adenovirus infection in immunocompromised patients |
GARD:19153 |
MONDO:equivalentTo |
Adenovirus infection in immunocompromised patients |
|
|
MONDO:0863395 |
acquired monoclonal ig light chain-associated fanconi syndrome |
GARD:19154 |
MONDO:equivalentTo |
Acquired monoclonal Ig light chain-associated Fanconi syndrome |
|
|
MONDO:0863396 |
unspecified juvenile idiopathic arthritis |
GARD:19155 |
MONDO:equivalentTo |
Unspecified juvenile idiopathic arthritis |
|
|
MONDO:0863397 |
46,xx disorder of sex development induced by maternal-derived androgen |
GARD:19156 |
MONDO:equivalentTo |
46,XX disorder of sex development induced by maternal-derived androgen |
|
|
MONDO:0863398 |
tsh-secreting pituitary adenoma |
GARD:19157 |
MONDO:equivalentTo |
TSH-secreting pituitary adenoma |
|
|
MONDO:0863399 |
functioning gonadotropic adenoma |
GARD:19158 |
MONDO:equivalentTo |
Functioning gonadotropic adenoma |
|
|
MONDO:0863400 |
non-functioning pituitary adenoma |
GARD:19159 |
MONDO:equivalentTo |
Non-functioning pituitary adenoma |
|
|
MONDO:0863401 |
pituitary deficiency due to rathke cleft cysts |
GARD:19160 |
MONDO:equivalentTo |
Pituitary deficiency due to Rathke cleft cysts |
|
|
MONDO:0863402 |
pituitary dermoid and epidermoid cysts |
GARD:19161 |
MONDO:equivalentTo |
Pituitary dermoid and epidermoid cysts |
|
|
MONDO:0863403 |
germinoma of the central nervous system |
GARD:19162 |
MONDO:equivalentTo |
Germinoma of the central nervous system |
|
|
MONDO:0863404 |
pituitary deficiency due to empty sella turcica syndrome |
GARD:19163 |
MONDO:equivalentTo |
Pituitary deficiency due to empty sella turcica syndrome |
|
|
MONDO:0863405 |
duplication of the esophagus |
GARD:19164 |
MONDO:equivalentTo |
Duplication of the esophagus |
|
|
MONDO:0863406 |
congenital esophageal diverticulum |
GARD:19165 |
MONDO:equivalentTo |
Congenital esophageal diverticulum |
|
|
MONDO:0863407 |
chronic pneumonitis of infancy |
GARD:19166 |
MONDO:equivalentTo |
Chronic pneumonitis of infancy |
|
|
MONDO:0863408 |
non-specific interstitial pneumonia |
GARD:19167 |
MONDO:equivalentTo |
Non-specific interstitial pneumonia |
|
|
MONDO:0863409 |
isolated ankyloblepharon filiforme adnatum |
GARD:19168 |
MONDO:equivalentTo |
Isolated ankyloblepharon filiforme adnatum |
|
|
MONDO:0863410 |
congenital ectropion uveae |
GARD:19169 |
MONDO:equivalentTo |
Congenital ectropion uveae |
|
|
MONDO:0863411 |
dermatitis herpetiformis |
GARD:1917 |
MONDO:equivalentTo |
Dermatitis herpetiformis |
|
|
MONDO:0863412 |
lyme disease |
GARD:19170 |
MONDO:equivalentTo |
Lyme disease |
|
|
MONDO:0863413 |
relapsing fever |
GARD:19171 |
MONDO:equivalentTo |
Relapsing fever |
|
|
MONDO:0863414 |
renal hypoplasia |
GARD:19172 |
MONDO:equivalentTo |
Renal hypoplasia |
|
|
MONDO:0863415 |
renal dysplasia |
GARD:19173 |
MONDO:equivalentTo |
Renal dysplasia |
|
|
MONDO:0863416 |
congenital megacalycosis |
GARD:19174 |
MONDO:equivalentTo |
Congenital megacalycosis |
|
|
MONDO:0863417 |
pauci-immune glomerulonephritis |
GARD:19175 |
MONDO:equivalentTo |
Pauci-immune glomerulonephritis |
|
|
MONDO:0863418 |
transient pseudohypoaldosteronism |
GARD:19176 |
MONDO:equivalentTo |
Transient pseudohypoaldosteronism |
|
|
MONDO:0863419 |
renal dysplasia, unilateral |
GARD:19177 |
MONDO:equivalentTo |
Renal dysplasia, unilateral |
|
|
MONDO:0863420 |
renal dysplasia, bilateral |
GARD:19178 |
MONDO:equivalentTo |
Renal dysplasia, bilateral |
|
|
MONDO:0863421 |
unilateral congenital megacalycosis |
GARD:19179 |
MONDO:equivalentTo |
Unilateral congenital megacalycosis |
|
|
MONDO:0863422 |
congenital bilateral megacalycosis |
GARD:19180 |
MONDO:equivalentTo |
Congenital bilateral megacalycosis |
|
|
MONDO:0863423 |
monostotic fibrous dysplasia |
GARD:19181 |
MONDO:equivalentTo |
Monostotic fibrous dysplasia |
|
|
MONDO:0863424 |
ulnar hemimelia |
GARD:19182 |
MONDO:equivalentTo |
Ulnar hemimelia |
|
|
MONDO:0863425 |
juvenile sialidosis type 2 |
GARD:19183 |
MONDO:equivalentTo |
Juvenile sialidosis type 2 |
|
|
MONDO:0863426 |
congenital sialidosis type 2 |
GARD:19184 |
MONDO:equivalentTo |
Congenital sialidosis type 2 |
|
|
MONDO:0863427 |
fgfr3-related chondrodysplasia |
GARD:19185 |
MONDO:equivalentTo |
FGFR3-related chondrodysplasia |
|
|
MONDO:0863428 |
type 2 collagen-related bone disorder |
GARD:19186 |
MONDO:equivalentTo |
Type 2 collagen-related bone disorder |
|
|
MONDO:0863429 |
type 11 collagen-related bone disorder |
GARD:19187 |
MONDO:equivalentTo |
Type 11 collagen-related bone disorder |
|
|
MONDO:0863430 |
sulfation-related bone disorder |
GARD:19188 |
MONDO:equivalentTo |
Sulfation-related bone disorder |
|
|
MONDO:0863431 |
perlecan-related bone disorder |
GARD:19189 |
MONDO:equivalentTo |
Perlecan-related bone disorder |
|
|
MONDO:0863432 |
filamin-related bone disorder |
GARD:19190 |
MONDO:equivalentTo |
Filamin-related bone disorder |
|
|
MONDO:0863433 |
multiple epiphyseal dysplasia and pseudoachondroplasia |
GARD:19191 |
MONDO:equivalentTo |
Multiple epiphyseal dysplasia and pseudoachondroplasia |
|
|
MONDO:0863434 |
multiple metaphyseal dysplasia |
GARD:19192 |
MONDO:equivalentTo |
Multiple metaphyseal dysplasia |
|
|
MONDO:0863435 |
spondylodysplastic dysplasia |
GARD:19193 |
MONDO:equivalentTo |
Spondylodysplastic dysplasia |
|
|
MONDO:0863436 |
acromelic dysplasia |
GARD:19194 |
MONDO:equivalentTo |
Acromelic dysplasia |
|
|
MONDO:0863437 |
mesomelic and rhizo-mesomelic dysplasia |
GARD:19195 |
MONDO:equivalentTo |
Mesomelic and rhizo-mesomelic dysplasia |
|
|
MONDO:0863438 |
campomelic dysplasia and related disorders |
GARD:19196 |
MONDO:equivalentTo |
Campomelic dysplasia and related disorders |
|
|
MONDO:0863439 |
slender bone dysplasia |
GARD:19197 |
MONDO:equivalentTo |
Slender bone dysplasia |
|
|
MONDO:0863440 |
primary bone dysplasia with multiple joint dislocations |
GARD:19198 |
MONDO:equivalentTo |
Primary bone dysplasia with multiple joint dislocations |
|
|
MONDO:0863441 |
neonatal osteosclerotic dysplasia |
GARD:19199 |
MONDO:equivalentTo |
Neonatal osteosclerotic dysplasia |
|
|
MONDO:0863442 |
cataract-intellectual disability-anal atresia-urinary defects syndrome |
GARD:192 |
MONDO:equivalentTo |
Cataract-intellectual disability-anal atresia-urinary defects syndrome |
|
|
MONDO:0863443 |
primary bone dysplasia with increased bone density |
GARD:19200 |
MONDO:equivalentTo |
Primary bone dysplasia with increased bone density |
|
|
MONDO:0863444 |
primary bone dysplasia with decreased bone density |
GARD:19201 |
MONDO:equivalentTo |
Primary bone dysplasia with decreased bone density |
|
|
MONDO:0863445 |
primary bone dysplasia with defective bone mineralization |
GARD:19202 |
MONDO:equivalentTo |
Primary bone dysplasia with defective bone mineralization |
|
|
MONDO:0863446 |
lysosomal storage disease with skeletal involvement |
GARD:19203 |
MONDO:equivalentTo |
Lysosomal storage disease with skeletal involvement |
|
|
MONDO:0863447 |
primary osteolysis |
GARD:19204 |
MONDO:equivalentTo |
Primary osteolysis |
|
|
MONDO:0863448 |
primary bone dysplasia with disorganized development of skeletal components |
GARD:19205 |
MONDO:equivalentTo |
Primary bone dysplasia with disorganized development of skeletal components |
|
|
MONDO:0863449 |
cleidocranial dysplasia and isolated cranial ossification defect |
GARD:19206 |
MONDO:equivalentTo |
Cleidocranial dysplasia and isolated cranial ossification defect |
|
|
MONDO:0863450 |
dysostosis with predominant craniofacial involvement |
GARD:19207 |
MONDO:equivalentTo |
Dysostosis with predominant craniofacial involvement |
|
|
MONDO:0863451 |
dysostosis with predominant vertebral and costal involvement |
GARD:19208 |
MONDO:equivalentTo |
Dysostosis with predominant vertebral and costal involvement |
|
|
MONDO:0863452 |
patellar dysostosis |
GARD:19209 |
MONDO:equivalentTo |
Patellar dysostosis |
|
|
MONDO:0863453 |
non-syndromic limb reduction defect |
GARD:19210 |
MONDO:equivalentTo |
Non-syndromic limb reduction defect |
|
|
MONDO:0863454 |
non-syndromic polydactyly, syndactyly and/or hyperphalangy |
GARD:19211 |
MONDO:equivalentTo |
Non-syndromic polydactyly, syndactyly and/or hyperphalangy |
|
|
MONDO:0863455 |
syndrome with synostosis or other joint formation defect |
GARD:19212 |
MONDO:equivalentTo |
Syndrome with synostosis or other joint formation defect |
|
|
MONDO:0863456 |
overgrowth syndrome |
GARD:19213 |
MONDO:equivalentTo |
Overgrowth syndrome |
|
|
MONDO:0863457 |
chromosomal disease with overgrowth |
GARD:19214 |
MONDO:equivalentTo |
Chromosomal disease with overgrowth |
|
|
MONDO:0863458 |
lethal chondrodysplasia |
GARD:19215 |
MONDO:equivalentTo |
Lethal chondrodysplasia |
|
|
MONDO:0863459 |
renal or urinary tract malformation |
GARD:19216 |
MONDO:equivalentTo |
Renal or urinary tract malformation |
|
|
MONDO:0863460 |
non-syndromic renal or urinary tract malformation |
GARD:19217 |
MONDO:equivalentTo |
Non-syndromic renal or urinary tract malformation |
|
|
MONDO:0863461 |
syndromic renal or urinary tract malformation |
GARD:19218 |
MONDO:equivalentTo |
Syndromic renal or urinary tract malformation |
|
|
MONDO:0863462 |
pediatric systemic lupus erythematosus |
GARD:19219 |
MONDO:equivalentTo |
Pediatric systemic lupus erythematosus |
|
|
MONDO:0863463 |
mixed cryoglobulinemia type ii |
GARD:19220 |
MONDO:equivalentTo |
Mixed cryoglobulinemia type II |
|
|
MONDO:0863464 |
mixed cryoglobulinemia type iii |
GARD:19221 |
MONDO:equivalentTo |
Mixed cryoglobulinemia type III |
|
|
MONDO:0863465 |
heavy chain deposition disease |
GARD:19222 |
MONDO:equivalentTo |
Heavy chain deposition disease |
|
|
MONDO:0863466 |
light and heavy chain deposition disease |
GARD:19223 |
MONDO:equivalentTo |
Light and heavy chain deposition disease |
|
|
MONDO:0863467 |
aapoai amyloidosis |
GARD:19224 |
MONDO:equivalentTo |
AApoAI amyloidosis |
|
|
MONDO:0863468 |
alys amyloidosis |
GARD:19225 |
MONDO:equivalentTo |
ALys amyloidosis |
|
|
MONDO:0863469 |
afib amyloidosis |
GARD:19226 |
MONDO:equivalentTo |
AFib amyloidosis |
|
|
MONDO:0863470 |
thrombotic microangiopathy |
GARD:19227 |
MONDO:equivalentTo |
Thrombotic microangiopathy |
|
|
MONDO:0863471 |
genetic cystic renal disease |
GARD:19228 |
MONDO:equivalentTo |
Genetic cystic renal disease |
|
|
MONDO:0863472 |
nephropathy secondary to a storage or other metabolic disease |
GARD:19229 |
MONDO:equivalentTo |
Nephropathy secondary to a storage or other metabolic disease |
|
|
MONDO:0863473 |
rare renal tubular disease |
GARD:19230 |
MONDO:equivalentTo |
Rare renal tubular disease |
|
|
MONDO:0863474 |
hematological disorder with renal involvement |
GARD:19231 |
MONDO:equivalentTo |
Hematological disorder with renal involvement |
|
|
MONDO:0863475 |
rare cause of hypertension |
GARD:19232 |
MONDO:equivalentTo |
Rare cause of hypertension |
|
|
MONDO:0863476 |
rare renal tumor |
GARD:19233 |
MONDO:equivalentTo |
Rare renal tumor |
|
|
MONDO:0863477 |
autoinflammatory syndrome |
GARD:19234 |
MONDO:equivalentTo |
Autoinflammatory syndrome |
|
|
MONDO:0863478 |
isolated epispadias |
GARD:19235 |
MONDO:equivalentTo |
Isolated epispadias |
|
|
MONDO:0863479 |
laryngotracheoesophageal cleft type 1 |
GARD:19236 |
MONDO:equivalentTo |
Laryngotracheoesophageal cleft type 1 |
|
|
MONDO:0863480 |
laryngotracheoesophageal cleft type 2 |
GARD:19237 |
MONDO:equivalentTo |
Laryngotracheoesophageal cleft type 2 |
|
|
MONDO:0863481 |
laryngotracheoesophageal cleft type 4 |
GARD:19238 |
MONDO:equivalentTo |
Laryngotracheoesophageal cleft type 4 |
|
|
MONDO:0863482 |
x-linked intellectual disability, porteous type |
GARD:19239 |
MONDO:equivalentTo |
X-linked intellectual disability, Porteous type |
|
|
MONDO:0863483 |
hamel cerebro-palato-cardiac syndrome |
GARD:19240 |
MONDO:equivalentTo |
Hamel cerebro-palato-cardiac syndrome |
|
|
MONDO:0863484 |
x-linked intellectual disability, golabi-ito-hall type |
GARD:19241 |
MONDO:equivalentTo |
X-linked intellectual disability, Golabi-Ito-Hall type |
|
|
MONDO:0863485 |
x-linked intellectual disability, sutherland-haan type |
GARD:19242 |
MONDO:equivalentTo |
X-linked intellectual disability, Sutherland-Haan type |
|
|
MONDO:0863486 |
oromandibular dystonia |
GARD:19243 |
MONDO:equivalentTo |
Oromandibular dystonia |
|
|
MONDO:0863487 |
humero-ulnar synostosis |
GARD:19244 |
MONDO:equivalentTo |
Humero-ulnar synostosis |
|
|
MONDO:0863488 |
neovascular glaucoma |
GARD:19245 |
MONDO:equivalentTo |
Neovascular glaucoma |
|
|
MONDO:0863489 |
uremic pruritus |
GARD:19246 |
MONDO:equivalentTo |
Uremic pruritus |
|
|
MONDO:0863490 |
severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia |
GARD:19247 |
MONDO:equivalentTo |
Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia |
|
|
MONDO:0863491 |
non-functioning paraganglioma |
GARD:19248 |
MONDO:equivalentTo |
Non-functioning paraganglioma |
|
|
MONDO:0863492 |
cytophagic histiocytic panniculitis |
GARD:19249 |
MONDO:equivalentTo |
Cytophagic histiocytic panniculitis |
|
|
MONDO:0863493 |
mills syndrome |
GARD:19250 |
MONDO:equivalentTo |
Mills syndrome |
|
|
MONDO:0863494 |
recessive mitochondrial ataxia syndrome |
GARD:19251 |
MONDO:equivalentTo |
Recessive mitochondrial ataxia syndrome |
|
|
MONDO:0863495 |
autosomal dominant cerebellar ataxia type i |
GARD:19252 |
MONDO:equivalentTo |
Autosomal dominant cerebellar ataxia type I |
|
|
MONDO:0863496 |
autosomal dominant cerebellar ataxia type iii |
GARD:19253 |
MONDO:equivalentTo |
Autosomal dominant cerebellar ataxia type III |
|
|
MONDO:0863497 |
autosomal dominant cerebellar ataxia type iv |
GARD:19254 |
MONDO:equivalentTo |
Autosomal dominant cerebellar ataxia type IV |
|
|
MONDO:0863498 |
acute hepatic porphyria |
GARD:19255 |
MONDO:equivalentTo |
Acute hepatic porphyria |
|
|
MONDO:0863499 |
chronic hepatic porphyria |
GARD:19256 |
MONDO:equivalentTo |
Chronic hepatic porphyria |
|
|
MONDO:0863500 |
acute adrenal insufficiency |
GARD:19257 |
MONDO:equivalentTo |
Acute adrenal insufficiency |
|
|
MONDO:0863501 |
secondary short bowel syndrome |
GARD:19258 |
MONDO:equivalentTo |
Secondary short bowel syndrome |
|
|
MONDO:0863502 |
mesocardia |
GARD:19259 |
MONDO:equivalentTo |
Mesocardia |
|
|
MONDO:0863503 |
congenital aortic valve atresia |
GARD:19260 |
MONDO:equivalentTo |
Congenital aortic valve atresia |
|
|
MONDO:0863504 |
tricuspid valve agenesis |
GARD:19261 |
MONDO:equivalentTo |
Tricuspid valve agenesis |
|
|
MONDO:0863505 |
congenital tricuspid stenosis |
GARD:19262 |
MONDO:equivalentTo |
Congenital tricuspid stenosis |
|
|
MONDO:0863506 |
straddling or overriding tricuspid valve |
GARD:19263 |
MONDO:equivalentTo |
Straddling or overriding tricuspid valve |
|
|
MONDO:0863507 |
accessory tricuspid valve tissue |
GARD:19264 |
MONDO:equivalentTo |
Accessory tricuspid valve tissue |
|
|
MONDO:0863508 |
anomaly of the tricuspid subvalvular apparatus |
GARD:19265 |
MONDO:equivalentTo |
Anomaly of the tricuspid subvalvular apparatus |
|
|
MONDO:0863509 |
congenital mitral valve insufficiency and/or stenosis |
GARD:19266 |
MONDO:equivalentTo |
Congenital mitral valve insufficiency and/or stenosis |
|
|
MONDO:0863510 |
cleft mitral valve |
GARD:19267 |
MONDO:equivalentTo |
Cleft mitral valve |
|
|
MONDO:0863511 |
double-orifice mitral valve |
GARD:19268 |
MONDO:equivalentTo |
Double-orifice mitral valve |
|
|
MONDO:0863512 |
univentricular cardiopathy |
GARD:19269 |
MONDO:equivalentTo |
Univentricular cardiopathy |
|
|
MONDO:0863513 |
arterial duct anomaly |
GARD:19270 |
MONDO:equivalentTo |
Arterial duct anomaly |
|
|
MONDO:0863514 |
premature closure of the arterial duct |
GARD:19271 |
MONDO:equivalentTo |
Premature closure of the arterial duct |
|
|
MONDO:0863515 |
non-acquired pituitary hormone deficiency |
GARD:19272 |
MONDO:equivalentTo |
Non-acquired pituitary hormone deficiency |
|
|
MONDO:0863516 |
congenital coronary artery aneurysm |
GARD:19273 |
MONDO:equivalentTo |
Congenital coronary artery aneurysm |
|
|
MONDO:0863517 |
disease associated with non-acquired combined pituitary hormone deficiency |
GARD:19274 |
MONDO:equivalentTo |
Disease associated with non-acquired combined pituitary hormone deficiency |
|
|
MONDO:0863518 |
congenital anomaly of superior vena cava |
GARD:19275 |
MONDO:equivalentTo |
Congenital anomaly of superior vena cava |
|
|
MONDO:0863519 |
congenital anomaly of the inferior vena cava |
GARD:19276 |
MONDO:equivalentTo |
Congenital anomaly of the inferior vena cava |
|
|
MONDO:0863520 |
congenital anomaly of the coronary sinus |
GARD:19277 |
MONDO:equivalentTo |
Congenital anomaly of the coronary sinus |
|
|
MONDO:0863521 |
acquired pituitary hormone deficiency |
GARD:19278 |
MONDO:equivalentTo |
Acquired pituitary hormone deficiency |
|
|
MONDO:0863522 |
pituitary hormone deficiency of tumoral origin |
GARD:19279 |
MONDO:equivalentTo |
Pituitary hormone deficiency of tumoral origin |
|
|
MONDO:0863523 |
pituitary hormone deficiency of meningeal origin |
GARD:19280 |
MONDO:equivalentTo |
Pituitary hormone deficiency of meningeal origin |
|
|
MONDO:0863524 |
primary hypophysitis |
GARD:19281 |
MONDO:equivalentTo |
Primary hypophysitis |
|
|
MONDO:0863525 |
congenital anomaly of hepatic vein |
GARD:19282 |
MONDO:equivalentTo |
Congenital anomaly of hepatic vein |
|
|
MONDO:0863526 |
atrial appendage anomaly |
GARD:19283 |
MONDO:equivalentTo |
Atrial appendage anomaly |
|
|
MONDO:0863527 |
adenohypophysitis |
GARD:19284 |
MONDO:equivalentTo |
Adenohypophysitis |
|
|
MONDO:0863528 |
panhypophysitis |
GARD:19285 |
MONDO:equivalentTo |
Panhypophysitis |
|
|
MONDO:0863529 |
pituitary hormone deficiency of vascular origin |
GARD:19286 |
MONDO:equivalentTo |
Pituitary hormone deficiency of vascular origin |
|
|
MONDO:0863530 |
pituitary apoplexy |
GARD:19287 |
MONDO:equivalentTo |
Pituitary apoplexy |
|
|
MONDO:0863531 |
pituitary hormone deficiency secondary to a granulomatous disease |
GARD:19288 |
MONDO:equivalentTo |
Pituitary hormone deficiency secondary to a granulomatous disease |
|
|
MONDO:0863532 |
pituitary hormone deficiency secondary to storage disease |
GARD:19289 |
MONDO:equivalentTo |
Pituitary hormone deficiency secondary to storage disease |
|
|
MONDO:0863533 |
post-traumatic pituitary deficiency |
GARD:19290 |
MONDO:equivalentTo |
Post-traumatic pituitary deficiency |
|
|
MONDO:0863534 |
acquired central diabetes insipidus |
GARD:19291 |
MONDO:equivalentTo |
Acquired central diabetes insipidus |
|
|
MONDO:0863535 |
idiopathic isolated micropenis |
GARD:19292 |
MONDO:equivalentTo |
Idiopathic isolated micropenis |
|
|
MONDO:0863536 |
acquired premature ovarian failure |
GARD:19293 |
MONDO:equivalentTo |
Acquired premature ovarian failure |
|
|
MONDO:0863537 |
non-acquired premature ovarian failure |
GARD:19294 |
MONDO:equivalentTo |
Non-acquired premature ovarian failure |
|
|
MONDO:0863538 |
congenital hypothyroidism due to developmental anomaly |
GARD:19295 |
MONDO:equivalentTo |
Congenital hypothyroidism due to developmental anomaly |
|
|
MONDO:0863539 |
primary congenital hypothyroidism without thyroid developmental anomaly |
GARD:19296 |
MONDO:equivalentTo |
Primary congenital hypothyroidism without thyroid developmental anomaly |
|
|
MONDO:0863540 |
congenital hypothyroidism due to transplacental passage of tsh-binding inhibitory antibodies |
GARD:19297 |
MONDO:equivalentTo |
Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies |
|
|
MONDO:0863541 |
idiopathic congenital hypothyroidism |
GARD:19298 |
MONDO:equivalentTo |
Idiopathic congenital hypothyroidism |
|
|
MONDO:0863542 |
congenital thyroid malformation without hypothyroidism |
GARD:19299 |
MONDO:equivalentTo |
Congenital thyroid malformation without hypothyroidism |
|
|
MONDO:0863543 |
opitz gbbb syndrome |
GARD:193 |
MONDO:equivalentTo |
Opitz GBBB syndrome |
|
|
MONDO:0863544 |
mosaic trisomy 4 |
GARD:19300 |
MONDO:equivalentTo |
Mosaic trisomy 4 |
|
|
MONDO:0863545 |
mosaic trisomy 5 |
GARD:19301 |
MONDO:equivalentTo |
Mosaic trisomy 5 |
|
|
MONDO:0863546 |
mosaic trisomy 10 |
GARD:19302 |
MONDO:equivalentTo |
Mosaic trisomy 10 |
|
|
MONDO:0863547 |
distal trisomy 1p36 |
GARD:19303 |
MONDO:equivalentTo |
Distal trisomy 1p36 |
|
|
MONDO:0863548 |
distal trisomy 2p |
GARD:19304 |
MONDO:equivalentTo |
Distal trisomy 2p |
|
|
MONDO:0863549 |
distal trisomy 3p |
GARD:19305 |
MONDO:equivalentTo |
Distal trisomy 3p |
|
|
MONDO:0863550 |
4p16.3 microduplication syndrome |
GARD:19306 |
MONDO:equivalentTo |
4p16.3 microduplication syndrome |
|
|
MONDO:0863551 |
distal trisomy 7p |
GARD:19307 |
MONDO:equivalentTo |
Distal trisomy 7p |
|
|
MONDO:0863552 |
beckwith-wiedemann syndrome due to 11p15 microduplication |
GARD:19308 |
MONDO:equivalentTo |
Beckwith-Wiedemann syndrome due to 11p15 microduplication |
|
|
MONDO:0863553 |
8p inverted duplication/deletion syndrome |
GARD:19309 |
MONDO:equivalentTo |
8p inverted duplication/deletion syndrome |
|
|
MONDO:0863554 |
distal trisomy 2q |
GARD:19310 |
MONDO:equivalentTo |
Distal trisomy 2q |
|
|
MONDO:0863555 |
3q26 microduplication syndrome |
GARD:19311 |
MONDO:equivalentTo |
3q26 microduplication syndrome |
|
|
MONDO:0863556 |
distal trisomy 4q |
GARD:19312 |
MONDO:equivalentTo |
Distal trisomy 4q |
|
|
MONDO:0863557 |
distal trisomy 5q |
GARD:19313 |
MONDO:equivalentTo |
Distal trisomy 5q |
|
|
MONDO:0863558 |
distal trisomy 6q |
GARD:19314 |
MONDO:equivalentTo |
Distal trisomy 6q |
|
|
MONDO:0863559 |
distal trisomy 8q |
GARD:19315 |
MONDO:equivalentTo |
Distal trisomy 8q |
|
|
MONDO:0863560 |
distal trisomy 9q |
GARD:19316 |
MONDO:equivalentTo |
Distal trisomy 9q |
|
|
MONDO:0863561 |
distal trisomy 10q |
GARD:19317 |
MONDO:equivalentTo |
Distal trisomy 10q |
|
|
MONDO:0863562 |
distal trisomy 11q |
GARD:19318 |
MONDO:equivalentTo |
Distal trisomy 11q |
|
|
MONDO:0863563 |
distal trisomy 13q |
GARD:19319 |
MONDO:equivalentTo |
Distal trisomy 13q |
|
|
MONDO:0863564 |
distal trisomy 16q |
GARD:19320 |
MONDO:equivalentTo |
Distal trisomy 16q |
|
|
MONDO:0863565 |
distal trisomy 20q |
GARD:19321 |
MONDO:equivalentTo |
Distal trisomy 20q |
|
|
MONDO:0863566 |
distal trisomy 22q |
GARD:19322 |
MONDO:equivalentTo |
Distal trisomy 22q |
|
|
MONDO:0863567 |
non-distal trisomy 9q |
GARD:19323 |
MONDO:equivalentTo |
Non-distal trisomy 9q |
|
|
MONDO:0863568 |
monosomy 22 |
GARD:19324 |
MONDO:equivalentTo |
Monosomy 22 |
|
|
MONDO:0863569 |
distal monosomy 7p |
GARD:19325 |
MONDO:equivalentTo |
Distal monosomy 7p |
|
|
MONDO:0863570 |
distal monosomy 19p13.3 |
GARD:19326 |
MONDO:equivalentTo |
Distal monosomy 19p13.3 |
|
|
MONDO:0863571 |
distal monosomy 4q |
GARD:19327 |
MONDO:equivalentTo |
Distal monosomy 4q |
|
|
MONDO:0863572 |
distal monosomy 12q |
GARD:19328 |
MONDO:equivalentTo |
Distal monosomy 12q |
|
|
MONDO:0863573 |
distal monosomy 14q |
GARD:19329 |
MONDO:equivalentTo |
Distal monosomy 14q |
|
|
MONDO:0863574 |
non-distal monosomy 12q |
GARD:19330 |
MONDO:equivalentTo |
Non-distal monosomy 12q |
|
|
MONDO:0863575 |
maternal uniparental disomy of chromosome 2 |
GARD:19331 |
MONDO:equivalentTo |
Maternal uniparental disomy of chromosome 2 |
|
|
MONDO:0863576 |
maternal uniparental disomy of chromosome 4 |
GARD:19332 |
MONDO:equivalentTo |
Maternal uniparental disomy of chromosome 4 |
|
|
MONDO:0863577 |
maternal uniparental disomy of chromosome 6 |
GARD:19333 |
MONDO:equivalentTo |
Maternal uniparental disomy of chromosome 6 |
|
|
MONDO:0863578 |
silver-russell syndrome due to maternal uniparental disomy of chromosome 7 |
GARD:19334 |
MONDO:equivalentTo |
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 |
|
|
MONDO:0863579 |
maternal uniparental disomy of chromosome 9 |
GARD:19335 |
MONDO:equivalentTo |
Maternal uniparental disomy of chromosome 9 |
|
|
MONDO:0863580 |
maternal uniparental disomy of chromosome 16 |
GARD:19336 |
MONDO:equivalentTo |
Maternal uniparental disomy of chromosome 16 |
|
|
MONDO:0863581 |
maternal uniparental disomy of chromosome 21 |
GARD:19337 |
MONDO:equivalentTo |
Maternal uniparental disomy of chromosome 21 |
|
|
MONDO:0863582 |
maternal uniparental disomy of chromosome 22 |
GARD:19338 |
MONDO:equivalentTo |
Maternal uniparental disomy of chromosome 22 |
|
|
MONDO:0863583 |
paternal uniparental disomy of chromosome 5 |
GARD:19339 |
MONDO:equivalentTo |
Paternal uniparental disomy of chromosome 5 |
|
|
MONDO:0863584 |
paternal uniparental disomy of chromosome 6 |
GARD:19340 |
MONDO:equivalentTo |
Paternal uniparental disomy of chromosome 6 |
|
|
MONDO:0863585 |
paternal uniparental disomy of chromosome 7 |
GARD:19341 |
MONDO:equivalentTo |
Paternal uniparental disomy of chromosome 7 |
|
|
MONDO:0863586 |
beckwith-wiedemann syndrome due to paternal uniparental disomy of chromosome 11 |
GARD:19342 |
MONDO:equivalentTo |
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 |
|
|
MONDO:0863587 |
paternal uniparental disomy of chromosome 20 |
GARD:19343 |
MONDO:equivalentTo |
Paternal uniparental disomy of chromosome 20 |
|
|
MONDO:0863588 |
paternal uniparental disomy of chromosome 21 |
GARD:19344 |
MONDO:equivalentTo |
Paternal uniparental disomy of chromosome 21 |
|
|
MONDO:0863589 |
x small rings |
GARD:19345 |
MONDO:equivalentTo |
X small rings |
|
|
MONDO:0863590 |
rare genetic deafness |
GARD:19346 |
MONDO:equivalentTo |
Rare genetic deafness |
|
|
MONDO:0863591 |
isolated partial vaginal agenesis |
GARD:19347 |
MONDO:equivalentTo |
Isolated partial vaginal agenesis |
|
|
MONDO:0863592 |
polyploidy |
GARD:19348 |
MONDO:equivalentTo |
Polyploidy |
|
|
MONDO:0863593 |
isochromosome y |
GARD:19349 |
MONDO:equivalentTo |
Isochromosome Y |
|
|
MONDO:0863594 |
rare otorhinolaryngological malformation |
GARD:19350 |
MONDO:equivalentTo |
Rare otorhinolaryngological malformation |
|
|
MONDO:0863595 |
anorectal malformation |
GARD:19351 |
MONDO:equivalentTo |
Anorectal malformation |
|
|
MONDO:0863596 |
early-onset schizophrenia |
GARD:19352 |
MONDO:equivalentTo |
Early-onset schizophrenia |
|
|
MONDO:0863597 |
solar urticaria |
GARD:19353 |
MONDO:equivalentTo |
Solar urticaria |
|
|
MONDO:0863598 |
zebra body myopathy |
GARD:19354 |
MONDO:equivalentTo |
Zebra body myopathy |
|
|
MONDO:0863599 |
mega-cisterna magna |
GARD:19355 |
MONDO:equivalentTo |
Mega-cisterna magna |
|
|
MONDO:0863600 |
grfoma |
GARD:19356 |
MONDO:equivalentTo |
GRFoma |
|
|
MONDO:0863601 |
encephalitis |
GARD:19357 |
MONDO:equivalentTo |
Encephalitis |
|
|
MONDO:0863602 |
ppoma |
GARD:19358 |
MONDO:equivalentTo |
PPoma |
|
|
MONDO:0863603 |
thyroid lymphoma |
GARD:19359 |
MONDO:equivalentTo |
Thyroid lymphoma |
|
|
MONDO:0863604 |
bronchial neuroendocrine tumor |
GARD:19360 |
MONDO:equivalentTo |
Bronchial neuroendocrine tumor |
|
|
MONDO:0863605 |
thymic neuroendocrine tumor |
GARD:19361 |
MONDO:equivalentTo |
Thymic neuroendocrine tumor |
|
|
MONDO:0863606 |
cardiogenic shock |
GARD:19362 |
MONDO:equivalentTo |
Cardiogenic shock |
|
|
MONDO:0863607 |
rare benign ovarian tumor |
GARD:19363 |
MONDO:equivalentTo |
Rare benign ovarian tumor |
|
|
MONDO:0863608 |
osgood-schlatter disease |
GARD:19364 |
MONDO:equivalentTo |
Osgood-Schlatter disease |
|
|
MONDO:0863609 |
panner disease |
GARD:19365 |
MONDO:equivalentTo |
Panner disease |
|
|
MONDO:0863610 |
sinding-larsen-johansson disease |
GARD:19366 |
MONDO:equivalentTo |
Sinding-Larsen-Johansson disease |
|
|
MONDO:0863611 |
melanoma of soft tissue |
GARD:19367 |
MONDO:equivalentTo |
Melanoma of soft tissue |
|
|
MONDO:0863612 |
dural sinus malformation |
GARD:19368 |
MONDO:equivalentTo |
Dural sinus malformation |
|
|
MONDO:0863613 |
persistent placoid maculopathy |
GARD:19369 |
MONDO:equivalentTo |
Persistent placoid maculopathy |
|
|
MONDO:0863614 |
postencephalitic parkinsonism |
GARD:19370 |
MONDO:equivalentTo |
Postencephalitic parkinsonism |
|
|
MONDO:0863615 |
dementia pugilistica |
GARD:19371 |
MONDO:equivalentTo |
Dementia pugilistica |
|
|
MONDO:0863616 |
caribbean parkinsonism |
GARD:19372 |
MONDO:equivalentTo |
Caribbean parkinsonism |
|
|
MONDO:0863617 |
renal hypoplasia, unilateral |
GARD:19373 |
MONDO:equivalentTo |
Renal hypoplasia, unilateral |
|
|
MONDO:0863618 |
renal hypoplasia, bilateral |
GARD:19374 |
MONDO:equivalentTo |
Renal hypoplasia, bilateral |
|
|
MONDO:0863619 |
unilateral multicystic dysplastic kidney |
GARD:19375 |
MONDO:equivalentTo |
Unilateral multicystic dysplastic kidney |
|
|
MONDO:0863620 |
multiloculated renal cyst |
GARD:19376 |
MONDO:equivalentTo |
Multiloculated renal cyst |
|
|
MONDO:0863621 |
renal tubular dysgenesis due to twin-twin transfusion |
GARD:19377 |
MONDO:equivalentTo |
Renal tubular dysgenesis due to twin-twin transfusion |
|
|
MONDO:0863622 |
drug-related renal tubular dysgenesis |
GARD:19378 |
MONDO:equivalentTo |
Drug-related renal tubular dysgenesis |
|
|
MONDO:0863623 |
pauci-immune glomerulonephritis with anca |
GARD:19379 |
MONDO:equivalentTo |
Pauci-immune glomerulonephritis with ANCA |
|
|
MONDO:0863624 |
pauci-immune glomerulonephritis without anca |
GARD:19380 |
MONDO:equivalentTo |
Pauci-immune glomerulonephritis without ANCA |
|
|
MONDO:0863625 |
congenital renal artery stenosis |
GARD:19381 |
MONDO:equivalentTo |
Congenital renal artery stenosis |
|
|
MONDO:0863626 |
maternal uniparental disomy of chromosome 13 |
GARD:19382 |
MONDO:equivalentTo |
Maternal uniparental disomy of chromosome 13 |
|
|
MONDO:0863627 |
gastroduodenal malformation |
GARD:19383 |
MONDO:equivalentTo |
Gastroduodenal malformation |
|
|
MONDO:0863628 |
intestinal malformation |
GARD:19384 |
MONDO:equivalentTo |
Intestinal malformation |
|
|
MONDO:0863629 |
respiratory or thoracic malformation |
GARD:19385 |
MONDO:equivalentTo |
Respiratory or thoracic malformation |
|
|
MONDO:0863630 |
infectious disease of the nervous system |
GARD:19386 |
MONDO:equivalentTo |
Infectious disease of the nervous system |
|
|
MONDO:0863631 |
rare headache |
GARD:19387 |
MONDO:equivalentTo |
Rare headache |
|
|
MONDO:0863632 |
rare disease with odontological manifestation |
GARD:19388 |
MONDO:equivalentTo |
Rare disease with odontological manifestation |
|
|
MONDO:0863633 |
rare neurologic disease with psychiatric involvement |
GARD:19389 |
MONDO:equivalentTo |
Rare neurologic disease with psychiatric involvement |
|
|
MONDO:0863634 |
cranial malformation |
GARD:19390 |
MONDO:equivalentTo |
Cranial malformation |
|
|
MONDO:0863635 |
digestive tract malformation |
GARD:19391 |
MONDO:equivalentTo |
Digestive tract malformation |
|
|
MONDO:0863636 |
visceral malformation of the liver, biliary tract, pancreas or spleen |
GARD:19392 |
MONDO:equivalentTo |
Visceral malformation of the liver, biliary tract, pancreas or spleen |
|
|
MONDO:0863637 |
diaphragmatic or abdominal wall malformation |
GARD:19393 |
MONDO:equivalentTo |
Diaphragmatic or abdominal wall malformation |
|
|
MONDO:0863638 |
central nervous system malformation |
GARD:19394 |
MONDO:equivalentTo |
Central nervous system malformation |
|
|
MONDO:0863639 |
respiratory or mediastinal malformation |
GARD:19395 |
MONDO:equivalentTo |
Respiratory or mediastinal malformation |
|
|
MONDO:0863640 |
rare male infertility |
GARD:19396 |
MONDO:equivalentTo |
Rare male infertility |
|
|
MONDO:0863641 |
rare female infertility |
GARD:19397 |
MONDO:equivalentTo |
Rare female infertility |
|
|
MONDO:0863642 |
rare allergic respiratory disease |
GARD:19398 |
MONDO:equivalentTo |
Rare allergic respiratory disease |
|
|
MONDO:0863643 |
rare genetic cardiac disease |
GARD:19399 |
MONDO:equivalentTo |
Rare genetic cardiac disease |
|
|
MONDO:0863644 |
gamma-aminobutyric acid transaminase deficiency |
GARD:194 |
MONDO:equivalentTo |
Gamma-aminobutyric acid transaminase deficiency |
|
|
MONDO:0863645 |
rare genetic renal disease |
GARD:19400 |
MONDO:equivalentTo |
Rare genetic renal disease |
|
|
MONDO:0863646 |
rare tumor |
GARD:19401 |
MONDO:equivalentTo |
Rare tumor |
|
|
MONDO:0863647 |
rare urinary tract tumor |
GARD:19402 |
MONDO:equivalentTo |
Rare urinary tract tumor |
|
|
MONDO:0863648 |
rare digestive tumor |
GARD:19403 |
MONDO:equivalentTo |
Rare digestive tumor |
|
|
MONDO:0863649 |
rare respiratory tumor |
GARD:19404 |
MONDO:equivalentTo |
Rare respiratory tumor |
|
|
MONDO:0863650 |
rare otorhinolaryngologic tumor |
GARD:19405 |
MONDO:equivalentTo |
Rare otorhinolaryngologic tumor |
|
|
MONDO:0863651 |
rare nervous system tumor |
GARD:19406 |
MONDO:equivalentTo |
Rare nervous system tumor |
|
|
MONDO:0863652 |
rare gynecological tumor |
GARD:19407 |
MONDO:equivalentTo |
Rare gynecological tumor |
|
|
MONDO:0863653 |
gonadal dysgenesis of gynecological interest |
GARD:19408 |
MONDO:equivalentTo |
Gonadal dysgenesis of gynecological interest |
|
|
MONDO:0863654 |
46,xx disorder of sex development induced by androgens excess |
GARD:19409 |
MONDO:equivalentTo |
46,XX disorder of sex development induced by androgens excess |
|
|
MONDO:0863655 |
46,xy disorder of sex development due to a defect in testosterone metabolism by peripheral tissue |
GARD:19410 |
MONDO:equivalentTo |
46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue |
|
|
MONDO:0863656 |
syndrome with 46,xy disorder of sex development |
GARD:19411 |
MONDO:equivalentTo |
Syndrome with 46,XY disorder of sex development |
|
|
MONDO:0863657 |
autosomal recessive congenital cerebellar ataxia |
GARD:19412 |
MONDO:equivalentTo |
Autosomal recessive congenital cerebellar ataxia |
|
|
MONDO:0863658 |
autosomal recessive metabolic cerebellar ataxia |
GARD:19413 |
MONDO:equivalentTo |
Autosomal recessive metabolic cerebellar ataxia |
|
|
MONDO:0863659 |
autosomal recessive cerebellar ataxia due to a dna repair defect |
GARD:19414 |
MONDO:equivalentTo |
Autosomal recessive cerebellar ataxia due to a DNA repair defect |
|
|
MONDO:0863660 |
autosomal recessive degenerative and progressive cerebellar ataxia |
GARD:19415 |
MONDO:equivalentTo |
Autosomal recessive degenerative and progressive cerebellar ataxia |
|
|
MONDO:0863661 |
autosomal recessive syndromic cerebellar ataxia |
GARD:19416 |
MONDO:equivalentTo |
Autosomal recessive syndromic cerebellar ataxia |
|
|
MONDO:0863662 |
autosomal anomaly |
GARD:19417 |
MONDO:equivalentTo |
Autosomal anomaly |
|
|
MONDO:0863663 |
autosomal trisomy |
GARD:19418 |
MONDO:equivalentTo |
Autosomal trisomy |
|
|
MONDO:0863664 |
total autosomal trisomy |
GARD:19419 |
MONDO:equivalentTo |
Total autosomal trisomy |
|
|
MONDO:0863665 |
partial autosomal trisomy/tetrasomy |
GARD:19420 |
MONDO:equivalentTo |
Partial autosomal trisomy/tetrasomy |
|
|
MONDO:0863666 |
total autosomal monosomy |
GARD:19421 |
MONDO:equivalentTo |
Total autosomal monosomy |
|
|
MONDO:0863667 |
partial autosomal monosomy |
GARD:19422 |
MONDO:equivalentTo |
Partial autosomal monosomy |
|
|
MONDO:0863668 |
autosomal uniparental disomy |
GARD:19423 |
MONDO:equivalentTo |
Autosomal uniparental disomy |
|
|
MONDO:0863669 |
maternal uniparental disomy |
GARD:19424 |
MONDO:equivalentTo |
Maternal uniparental disomy |
|
|
MONDO:0863670 |
paternal uniparental disomy |
GARD:19425 |
MONDO:equivalentTo |
Paternal uniparental disomy |
|
|
MONDO:0863671 |
sex-chromosome anomaly |
GARD:19426 |
MONDO:equivalentTo |
Sex-chromosome anomaly |
|
|
MONDO:0863672 |
sex-chromosome number anomaly |
GARD:19427 |
MONDO:equivalentTo |
Sex-chromosome number anomaly |
|
|
MONDO:0863673 |
sex-chromosome structural anomaly |
GARD:19428 |
MONDO:equivalentTo |
Sex-chromosome structural anomaly |
|
|
MONDO:0863674 |
chromosome y structural anomaly |
GARD:19429 |
MONDO:equivalentTo |
Chromosome Y structural anomaly |
|
|
MONDO:0863675 |
chromosome x structural anomaly |
GARD:19430 |
MONDO:equivalentTo |
Chromosome X structural anomaly |
|
|
MONDO:0863676 |
malformation syndrome with hamartosis |
GARD:19431 |
MONDO:equivalentTo |
Malformation syndrome with hamartosis |
|
|
MONDO:0863677 |
combined dystonia |
GARD:19432 |
MONDO:equivalentTo |
Combined dystonia |
|
|
MONDO:0863678 |
infectious encephalitis |
GARD:19433 |
MONDO:equivalentTo |
Infectious encephalitis |
|
|
MONDO:0863679 |
chronic encephalitis |
GARD:19434 |
MONDO:equivalentTo |
Chronic encephalitis |
|
|
MONDO:0863680 |
neonatal epilepsy syndrome |
GARD:19435 |
MONDO:equivalentTo |
Neonatal epilepsy syndrome |
|
|
MONDO:0863681 |
infantile epilepsy syndrome |
GARD:19436 |
MONDO:equivalentTo |
Infantile epilepsy syndrome |
|
|
MONDO:0863682 |
childhood-onset epilepsy syndrome |
GARD:19437 |
MONDO:equivalentTo |
Childhood-onset epilepsy syndrome |
|
|
MONDO:0863683 |
adolescent-onset epilepsy syndrome |
GARD:19438 |
MONDO:equivalentTo |
Adolescent-onset epilepsy syndrome |
|
|
MONDO:0863684 |
genetic non-syndromic obesity |
GARD:19439 |
MONDO:equivalentTo |
Genetic non-syndromic obesity |
|
|
MONDO:0863685 |
plasma cell tumor |
GARD:19440 |
MONDO:equivalentTo |
Plasma cell tumor |
|
|
MONDO:0863686 |
histiocytic and dendritic cell tumor |
GARD:19441 |
MONDO:equivalentTo |
Histiocytic and dendritic cell tumor |
|
|
MONDO:0863687 |
macrophage or histiocytic tumor |
GARD:19442 |
MONDO:equivalentTo |
Macrophage or histiocytic tumor |
|
|
MONDO:0863688 |
immunodeficiency-associated lymphoproliferative disease |
GARD:19443 |
MONDO:equivalentTo |
Immunodeficiency-associated lymphoproliferative disease |
|
|
MONDO:0863689 |
laminopathy |
GARD:19444 |
MONDO:equivalentTo |
Laminopathy |
|
|
MONDO:0863690 |
male infertility due to gonadal dysgenesis |
GARD:19445 |
MONDO:equivalentTo |
Male infertility due to gonadal dysgenesis |
|
|
MONDO:0863691 |
male infertility due to obstructive azoospermia |
GARD:19446 |
MONDO:equivalentTo |
Male infertility due to obstructive azoospermia |
|
|
MONDO:0863692 |
autosomal dominant isolated diffuse palmoplantar keratoderma |
GARD:19447 |
MONDO:equivalentTo |
Autosomal dominant isolated diffuse palmoplantar keratoderma |
|
|
MONDO:0863693 |
autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature |
GARD:19448 |
MONDO:equivalentTo |
Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature |
|
|
MONDO:0863694 |
autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature |
GARD:19449 |
MONDO:equivalentTo |
Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature |
|
|
MONDO:0863695 |
autosomal recessive isolated diffuse palmoplantar keratoderma |
GARD:19450 |
MONDO:equivalentTo |
Autosomal recessive isolated diffuse palmoplantar keratoderma |
|
|
MONDO:0863696 |
autosomal recessive disease with focal palmoplantar keratoderma as a major feature |
GARD:19451 |
MONDO:equivalentTo |
Autosomal recessive disease with focal palmoplantar keratoderma as a major feature |
|
|
MONDO:0863697 |
constitutional anemia due to iron metabolism disorder |
GARD:19452 |
MONDO:equivalentTo |
Constitutional anemia due to iron metabolism disorder |
|
|
MONDO:0863698 |
constitutional sideroblastic anemia |
GARD:19453 |
MONDO:equivalentTo |
Constitutional sideroblastic anemia |
|
|
MONDO:0863699 |
rare hemolytic anemia |
GARD:19454 |
MONDO:equivalentTo |
Rare hemolytic anemia |
|
|
MONDO:0863700 |
rare constitutional hemolytic anemia due to a red cell membrane anomaly |
GARD:19455 |
MONDO:equivalentTo |
Rare constitutional hemolytic anemia due to a red cell membrane anomaly |
|
|
MONDO:0863701 |
hereditary stomatocytosis |
GARD:19456 |
MONDO:equivalentTo |
Hereditary stomatocytosis |
|
|
MONDO:0863702 |
constitutional hemolytic anemia due to acanthocytosis |
GARD:19457 |
MONDO:equivalentTo |
Constitutional hemolytic anemia due to acanthocytosis |
|
|
MONDO:0863703 |
rare constitutional hemolytic anemia due to an enzyme disorder |
GARD:19458 |
MONDO:equivalentTo |
Rare constitutional hemolytic anemia due to an enzyme disorder |
|
|
MONDO:0863704 |
hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies |
GARD:19459 |
MONDO:equivalentTo |
Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies |
|
|
MONDO:0863705 |
hemolytic anemia due to a disorder of glycolytic enzymes |
GARD:19460 |
MONDO:equivalentTo |
Hemolytic anemia due to a disorder of glycolytic enzymes |
|
|
MONDO:0863706 |
hemolytic anemia due to an erythrocyte nucleotide metabolism disorder |
GARD:19461 |
MONDO:equivalentTo |
Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder |
|
|
MONDO:0863707 |
constitutional megaloblastic anemia due to vitamin b12 metabolism disorder |
GARD:19462 |
MONDO:equivalentTo |
Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder |
|
|
MONDO:0863708 |
constitutional megaloblastic anemia due to folate metabolism disorder |
GARD:19463 |
MONDO:equivalentTo |
Constitutional megaloblastic anemia due to folate metabolism disorder |
|
|
MONDO:0863709 |
vitamin b12- and folate-independent constitutional megaloblastic anemia |
GARD:19464 |
MONDO:equivalentTo |
Vitamin B12- and folate-independent constitutional megaloblastic anemia |
|
|
MONDO:0863710 |
primary acquired red cell aplasia |
GARD:19465 |
MONDO:equivalentTo |
Primary acquired red cell aplasia |
|
|
MONDO:0863711 |
polycythemia |
GARD:19466 |
MONDO:equivalentTo |
Polycythemia |
|
|
MONDO:0863712 |
secondary polycythemia |
GARD:19467 |
MONDO:equivalentTo |
Secondary polycythemia |
|
|
MONDO:0863713 |
rare coagulation disorder |
GARD:19468 |
MONDO:equivalentTo |
Rare coagulation disorder |
|
|
MONDO:0863714 |
alpha granule disease |
GARD:19469 |
MONDO:equivalentTo |
Alpha granule disease |
|
|
MONDO:0863715 |
dense granule disease |
GARD:19470 |
MONDO:equivalentTo |
Dense granule disease |
|
|
MONDO:0863716 |
skeletal muscle disease |
GARD:19471 |
MONDO:equivalentTo |
Skeletal muscle disease |
|
|
MONDO:0863717 |
metabolic myopathy |
GARD:19472 |
MONDO:equivalentTo |
Metabolic myopathy |
|
|
MONDO:0863718 |
neuromuscular junction disease |
GARD:19473 |
MONDO:equivalentTo |
Neuromuscular junction disease |
|
|
MONDO:0863719 |
acquired neuromuscular junction disease |
GARD:19474 |
MONDO:equivalentTo |
Acquired neuromuscular junction disease |
|
|
MONDO:0863720 |
genetic neuromuscular junction disease |
GARD:19475 |
MONDO:equivalentTo |
Genetic neuromuscular junction disease |
|
|
MONDO:0863721 |
rare peripheral neuropathy |
GARD:19476 |
MONDO:equivalentTo |
Rare peripheral neuropathy |
|
|
MONDO:0863722 |
motor neuron disease |
GARD:19477 |
MONDO:equivalentTo |
Motor neuron disease |
|
|
MONDO:0863723 |
genetic motor neuron disease |
GARD:19478 |
MONDO:equivalentTo |
Genetic motor neuron disease |
|
|
MONDO:0863724 |
acquired motor neuron disease |
GARD:19479 |
MONDO:equivalentTo |
Acquired motor neuron disease |
|
|
MONDO:0863725 |
malformation of the cerebellar vermis |
GARD:19480 |
MONDO:equivalentTo |
Malformation of the cerebellar vermis |
|
|
MONDO:0863726 |
malformation of the cerebellar hemispheres |
GARD:19481 |
MONDO:equivalentTo |
Malformation of the cerebellar hemispheres |
|
|
MONDO:0863727 |
cranial nerve and nuclear aplasia |
GARD:19482 |
MONDO:equivalentTo |
Cranial nerve and nuclear aplasia |
|
|
MONDO:0863728 |
posterior fossa malformation |
GARD:19483 |
MONDO:equivalentTo |
Posterior fossa malformation |
|
|
MONDO:0863729 |
neurodegenerative disease with dementia |
GARD:19484 |
MONDO:equivalentTo |
Neurodegenerative disease with dementia |
|
|
MONDO:0863730 |
frontotemporal degeneration with dementia |
GARD:19485 |
MONDO:equivalentTo |
Frontotemporal degeneration with dementia |
|
|
MONDO:0863731 |
ataxia with dementia |
GARD:19486 |
MONDO:equivalentTo |
Ataxia with dementia |
|
|
MONDO:0863732 |
early-onset ataxia with dementia |
GARD:19487 |
MONDO:equivalentTo |
Early-onset ataxia with dementia |
|
|
MONDO:0863733 |
late-onset ataxia with dementia |
GARD:19488 |
MONDO:equivalentTo |
Late-onset ataxia with dementia |
|
|
MONDO:0863734 |
infectious disease with dementia |
GARD:19489 |
MONDO:equivalentTo |
Infectious disease with dementia |
|
|
MONDO:0863735 |
metabolic disease with dementia |
GARD:19490 |
MONDO:equivalentTo |
Metabolic disease with dementia |
|
|
MONDO:0863736 |
cerebral lipidosis with dementia |
GARD:19491 |
MONDO:equivalentTo |
Cerebral lipidosis with dementia |
|
|
MONDO:0863737 |
rare cerebrovascular dementia |
GARD:19492 |
MONDO:equivalentTo |
Rare cerebrovascular dementia |
|
|
MONDO:0863738 |
microphthalmia-anophthalmia-coloboma |
GARD:19493 |
MONDO:equivalentTo |
Microphthalmia-anophthalmia-coloboma |
|
|
MONDO:0863739 |
syndromic aniridia |
GARD:19494 |
MONDO:equivalentTo |
Syndromic aniridia |
|
|
MONDO:0863740 |
rare palpebral disorder |
GARD:19495 |
MONDO:equivalentTo |
Rare palpebral disorder |
|
|
MONDO:0863741 |
congenital malformation of the eyelid |
GARD:19496 |
MONDO:equivalentTo |
Congenital malformation of the eyelid |
|
|
MONDO:0863742 |
microblepharon-ablephara syndrome |
GARD:19497 |
MONDO:equivalentTo |
Microblepharon-ablephara syndrome |
|
|
MONDO:0863743 |
eyelid border anomaly |
GARD:19498 |
MONDO:equivalentTo |
Eyelid border anomaly |
|
|
MONDO:0863744 |
syndromic ankyloblepharon filiforme adnatum |
GARD:19499 |
MONDO:equivalentTo |
Syndromic ankyloblepharon filiforme adnatum |
|
|
MONDO:0863745 |
hyperkalemic periodic paralysis |
GARD:195 |
MONDO:equivalentTo |
Hyperkalemic periodic paralysis |
|
|
MONDO:0863746 |
syndromic eyelid coloboma |
GARD:19500 |
MONDO:equivalentTo |
Syndromic eyelid coloboma |
|
|
MONDO:0863747 |
rare eyelid malposition disorder |
GARD:19501 |
MONDO:equivalentTo |
Rare eyelid malposition disorder |
|
|
MONDO:0863748 |
congenital ectropion |
GARD:19502 |
MONDO:equivalentTo |
Congenital ectropion |
|
|
MONDO:0863749 |
secondary ectropion |
GARD:19503 |
MONDO:equivalentTo |
Secondary ectropion |
|
|
MONDO:0863750 |
syndromic epicanthus |
GARD:19504 |
MONDO:equivalentTo |
Syndromic epicanthus |
|
|
MONDO:0863751 |
syndromic telecanthus |
GARD:19505 |
MONDO:equivalentTo |
Syndromic telecanthus |
|
|
MONDO:0863752 |
syndromic outer canthal malposition |
GARD:19506 |
MONDO:equivalentTo |
Syndromic outer canthal malposition |
|
|
MONDO:0863753 |
rare disorder with ptosis |
GARD:19507 |
MONDO:equivalentTo |
Rare disorder with ptosis |
|
|
MONDO:0863754 |
rare eyebrow/eyelash disorder |
GARD:19508 |
MONDO:equivalentTo |
Rare eyebrow/eyelash disorder |
|
|
MONDO:0863755 |
rare disorder of the lacrimal apparatus |
GARD:19509 |
MONDO:equivalentTo |
Rare disorder of the lacrimal apparatus |
|
|
MONDO:0863756 |
congenital alacrima |
GARD:19510 |
MONDO:equivalentTo |
Congenital alacrima |
|
|
MONDO:0863757 |
lacrimal drainage system anomaly |
GARD:19511 |
MONDO:equivalentTo |
Lacrimal drainage system anomaly |
|
|
MONDO:0863758 |
eec syndrome and related disorders |
GARD:19512 |
MONDO:equivalentTo |
EEC syndrome and related disorders |
|
|
MONDO:0863759 |
rare disorder with conjunctival involvement as a major feature |
GARD:19513 |
MONDO:equivalentTo |
Rare disorder with conjunctival involvement as a major feature |
|
|
MONDO:0863760 |
rare refraction anomaly |
GARD:19514 |
MONDO:equivalentTo |
Rare refraction anomaly |
|
|
MONDO:0863761 |
rare hyperopia and astigmatism |
GARD:19515 |
MONDO:equivalentTo |
Rare hyperopia and astigmatism |
|
|
MONDO:0863762 |
syndromic hyperopia |
GARD:19516 |
MONDO:equivalentTo |
Syndromic hyperopia |
|
|
MONDO:0863763 |
syndromic keratoconus |
GARD:19517 |
MONDO:equivalentTo |
Syndromic keratoconus |
|
|
MONDO:0863764 |
superficial corneal dystrophy |
GARD:19518 |
MONDO:equivalentTo |
Superficial corneal dystrophy |
|
|
MONDO:0863765 |
stromal corneal dystrophy |
GARD:19519 |
MONDO:equivalentTo |
Stromal corneal dystrophy |
|
|
MONDO:0863766 |
posterior corneal dystrophy |
GARD:19520 |
MONDO:equivalentTo |
Posterior corneal dystrophy |
|
|
MONDO:0863767 |
syndromic corneal dystrophy |
GARD:19521 |
MONDO:equivalentTo |
Syndromic corneal dystrophy |
|
|
MONDO:0863768 |
congenital malformation of the eye with glaucoma as a major feature |
GARD:19522 |
MONDO:equivalentTo |
Congenital malformation of the eye with glaucoma as a major feature |
|
|
MONDO:0863769 |
corneodysgenesis |
GARD:19523 |
MONDO:equivalentTo |
Corneodysgenesis |
|
|
MONDO:0863770 |
rare disease with glaucoma as a major feature |
GARD:19524 |
MONDO:equivalentTo |
Rare disease with glaucoma as a major feature |
|
|
MONDO:0863771 |
rare lens disease |
GARD:19525 |
MONDO:equivalentTo |
Rare lens disease |
|
|
MONDO:0863772 |
rare disorder with lens opacification |
GARD:19526 |
MONDO:equivalentTo |
Rare disorder with lens opacification |
|
|
MONDO:0863773 |
syndromic cataract |
GARD:19527 |
MONDO:equivalentTo |
Syndromic cataract |
|
|
MONDO:0863774 |
chromosomal anomaly with cataract |
GARD:19528 |
MONDO:equivalentTo |
Chromosomal anomaly with cataract |
|
|
MONDO:0863775 |
metabolic disease with cataract |
GARD:19529 |
MONDO:equivalentTo |
Metabolic disease with cataract |
|
|
MONDO:0863776 |
renal disease with cataract |
GARD:19530 |
MONDO:equivalentTo |
Renal disease with cataract |
|
|
MONDO:0863777 |
musculoskeletal disease with cataract |
GARD:19531 |
MONDO:equivalentTo |
Musculoskeletal disease with cataract |
|
|
MONDO:0863778 |
dentocutaneous disease with cataract |
GARD:19532 |
MONDO:equivalentTo |
Dentocutaneous disease with cataract |
|
|
MONDO:0863779 |
craniofacial anomaly with cataract |
GARD:19533 |
MONDO:equivalentTo |
Craniofacial anomaly with cataract |
|
|
MONDO:0863780 |
lens size anomaly |
GARD:19534 |
MONDO:equivalentTo |
Lens size anomaly |
|
|
MONDO:0863781 |
lens position anomaly |
GARD:19535 |
MONDO:equivalentTo |
Lens position anomaly |
|
|
MONDO:0863782 |
lens shape anomaly |
GARD:19536 |
MONDO:equivalentTo |
Lens shape anomaly |
|
|
MONDO:0863783 |
color-vision disease |
GARD:19537 |
MONDO:equivalentTo |
Color-vision disease |
|
|
MONDO:0863784 |
syndromic rod-cone dystrophy |
GARD:19538 |
MONDO:equivalentTo |
Syndromic rod-cone dystrophy |
|
|
MONDO:0863785 |
vitreoretinopathy |
GARD:19539 |
MONDO:equivalentTo |
Vitreoretinopathy |
|
|
MONDO:0863786 |
hereditary optic neuropathy |
GARD:19540 |
MONDO:equivalentTo |
Hereditary optic neuropathy |
|
|
MONDO:0863787 |
rare disorder with strabismus |
GARD:19541 |
MONDO:equivalentTo |
Rare disorder with strabismus |
|
|
MONDO:0863788 |
syndromic disorder with strabismus |
GARD:19542 |
MONDO:equivalentTo |
Syndromic disorder with strabismus |
|
|
MONDO:0863789 |
craniostenosis with strabismus |
GARD:19543 |
MONDO:equivalentTo |
Craniostenosis with strabismus |
|
|
MONDO:0863790 |
rare oculomotor nerve disorder |
GARD:19544 |
MONDO:equivalentTo |
Rare oculomotor nerve disorder |
|
|
MONDO:0863791 |
congenital trochlear nerve palsy |
GARD:19545 |
MONDO:equivalentTo |
Congenital trochlear nerve palsy |
|
|
MONDO:0863792 |
supranuclear eye movement disorder |
GARD:19546 |
MONDO:equivalentTo |
Supranuclear eye movement disorder |
|
|
MONDO:0863793 |
oculomotor apraxia |
GARD:19547 |
MONDO:equivalentTo |
Oculomotor apraxia |
|
|
MONDO:0863794 |
oculocutaneous or ocular albinism |
GARD:19548 |
MONDO:equivalentTo |
Oculocutaneous or ocular albinism |
|
|
MONDO:0863795 |
uveitis |
GARD:19549 |
MONDO:equivalentTo |
Uveitis |
|
|
MONDO:0863796 |
heart position anomaly |
GARD:19550 |
MONDO:equivalentTo |
Heart position anomaly |
|
|
MONDO:0863797 |
transposition of the great arteries and conotruncal cardiac anomaly |
GARD:19551 |
MONDO:equivalentTo |
Transposition of the great arteries and conotruncal cardiac anomaly |
|
|
MONDO:0863798 |
aortic malformation |
GARD:19552 |
MONDO:equivalentTo |
Aortic malformation |
|
|
MONDO:0863799 |
pulmonary artery or pulmonary branch anomaly |
GARD:19553 |
MONDO:equivalentTo |
Pulmonary artery or pulmonary branch anomaly |
|
|
MONDO:0863800 |
atrioventricular valve anomaly |
GARD:19554 |
MONDO:equivalentTo |
Atrioventricular valve anomaly |
|
|
MONDO:0863801 |
congenital tricuspid malformation |
GARD:19555 |
MONDO:equivalentTo |
Congenital tricuspid malformation |
|
|
MONDO:0863802 |
congenital anomaly of the great arteries |
GARD:19556 |
MONDO:equivalentTo |
Congenital anomaly of the great arteries |
|
|
MONDO:0863803 |
ascending aorta anomaly |
GARD:19557 |
MONDO:equivalentTo |
Ascending aorta anomaly |
|
|
MONDO:0863804 |
rare atrial defect and interatrial communication |
GARD:19558 |
MONDO:equivalentTo |
Rare atrial defect and interatrial communication |
|
|
MONDO:0863805 |
congenital pulmonary veins anomaly |
GARD:19559 |
MONDO:equivalentTo |
Congenital pulmonary veins anomaly |
|
|
MONDO:0863806 |
congenital arteriovenous fistula |
GARD:19560 |
MONDO:equivalentTo |
Congenital arteriovenous fistula |
|
|
MONDO:0863807 |
noonan syndrome and noonan-related syndrome |
GARD:19561 |
MONDO:equivalentTo |
Noonan syndrome and Noonan-related syndrome |
|
|
MONDO:0863808 |
genetic neurological muscular channelopathy |
GARD:19562 |
MONDO:equivalentTo |
Genetic neurological muscular channelopathy |
|
|
MONDO:0863809 |
neurological muscular channelopathy due to a genetic sodium channel defect |
GARD:19563 |
MONDO:equivalentTo |
Neurological muscular channelopathy due to a genetic sodium channel defect |
|
|
MONDO:0863810 |
neurological muscular channelopathy due to a genetic chloride channel defect |
GARD:19564 |
MONDO:equivalentTo |
Neurological muscular channelopathy due to a genetic chloride channel defect |
|
|
MONDO:0863811 |
neurological muscular channelopathy due to a genetic calcium channel defect |
GARD:19565 |
MONDO:equivalentTo |
Neurological muscular channelopathy due to a genetic calcium channel defect |
|
|
MONDO:0863812 |
neurological muscular channelopathy due to a genetic potassium channel defect |
GARD:19566 |
MONDO:equivalentTo |
Neurological muscular channelopathy due to a genetic potassium channel defect |
|
|
MONDO:0863813 |
neurological muscular channelopathy due to a genetic ryanodine receptor defect |
GARD:19567 |
MONDO:equivalentTo |
Neurological muscular channelopathy due to a genetic ryanodine receptor defect |
|
|
MONDO:0863814 |
genetic neurological channelopathy of the central nervous system |
GARD:19568 |
MONDO:equivalentTo |
Genetic neurological channelopathy of the central nervous system |
|
|
MONDO:0863815 |
neurological channelopathy of the central nervous system due to a genetic sodium channel defect |
GARD:19569 |
MONDO:equivalentTo |
Neurological channelopathy of the central nervous system due to a genetic sodium channel defect |
|
|
MONDO:0863816 |
neurological channelopathy of the central nervous system due to a genetic calcium channel defect |
GARD:19570 |
MONDO:equivalentTo |
Neurological channelopathy of the central nervous system due to a genetic calcium channel defect |
|
|
MONDO:0863817 |
neurological channelopathy of the central nervous system due to a genetic potassium channel defect |
GARD:19571 |
MONDO:equivalentTo |
Neurological channelopathy of the central nervous system due to a genetic potassium channel defect |
|
|
MONDO:0863818 |
neurological channelopathy of the central nervous system due to a genetic glycine receptor defect |
GARD:19572 |
MONDO:equivalentTo |
Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect |
|
|
MONDO:0863819 |
neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect |
GARD:19573 |
MONDO:equivalentTo |
Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect |
|
|
MONDO:0863820 |
neurological channelopathy of the central nervous system due to a genetic gaba receptor defect |
GARD:19574 |
MONDO:equivalentTo |
Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect |
|
|
MONDO:0863821 |
autoimmune neurological channelopathy |
GARD:19575 |
MONDO:equivalentTo |
Autoimmune neurological channelopathy |
|
|
MONDO:0863822 |
prader-willi syndrome due to paternal 15q11q13 deletion |
GARD:19576 |
MONDO:equivalentTo |
Prader-Willi syndrome due to paternal 15q11q13 deletion |
|
|
MONDO:0863823 |
angelman syndrome due to maternal 15q11q13 deletion |
GARD:19577 |
MONDO:equivalentTo |
Angelman syndrome due to maternal 15q11q13 deletion |
|
|
MONDO:0863824 |
angelman syndrome due to paternal uniparental disomy of chromosome 15 |
GARD:19578 |
MONDO:equivalentTo |
Angelman syndrome due to paternal uniparental disomy of chromosome 15 |
|
|
MONDO:0863825 |
isochromosomy yp |
GARD:19579 |
MONDO:equivalentTo |
Isochromosomy Yp |
|
|
MONDO:0863826 |
isochromosomy yq |
GARD:19580 |
MONDO:equivalentTo |
Isochromosomy Yq |
|
|
MONDO:0863827 |
benign childhood occipital epilepsy, panayiotopoulos type |
GARD:19581 |
MONDO:equivalentTo |
Benign childhood occipital epilepsy, Panayiotopoulos type |
|
|
MONDO:0863828 |
benign childhood occipital epilepsy, gastaut type |
GARD:19582 |
MONDO:equivalentTo |
Benign childhood occipital epilepsy, Gastaut type |
|
|
MONDO:0863829 |
atypical chronic myeloid leukemia |
GARD:19583 |
MONDO:equivalentTo |
Atypical chronic myeloid leukemia |
|
|
MONDO:0863830 |
unclassified myelodysplastic/myeloproliferative disease |
GARD:19584 |
MONDO:equivalentTo |
Unclassified myelodysplastic/myeloproliferative disease |
|
|
MONDO:0863831 |
refractory anemia |
GARD:19585 |
MONDO:equivalentTo |
Refractory anemia |
|
|
MONDO:0863832 |
unclassified myelodysplastic syndrome |
GARD:19586 |
MONDO:equivalentTo |
Unclassified myelodysplastic syndrome |
|
|
MONDO:0863833 |
acute myeloid leukemia with 11q23 abnormalities |
GARD:19587 |
MONDO:equivalentTo |
Acute myeloid leukemia with 11q23 abnormalities |
|
|
MONDO:0863834 |
acute myeloid leukemia with minimal differentiation |
GARD:19588 |
MONDO:equivalentTo |
Acute myeloid leukemia with minimal differentiation |
|
|
MONDO:0863835 |
primary mediastinal large b-cell lymphoma |
GARD:19589 |
MONDO:equivalentTo |
Primary mediastinal large B-cell lymphoma |
|
|
MONDO:0863836 |
intravascular large b-cell lymphoma |
GARD:19590 |
MONDO:equivalentTo |
Intravascular large B-cell lymphoma |
|
|
MONDO:0863837 |
classic hodgkin lymphoma, nodular sclerosis type |
GARD:19591 |
MONDO:equivalentTo |
Classic Hodgkin lymphoma, nodular sclerosis type |
|
|
MONDO:0863838 |
classic hodgkin lymphoma, mixed cellularity type |
GARD:19592 |
MONDO:equivalentTo |
Classic Hodgkin lymphoma, mixed cellularity type |
|
|
MONDO:0863839 |
classic hodgkin lymphoma, lymphocyte-rich type |
GARD:19593 |
MONDO:equivalentTo |
Classic Hodgkin lymphoma, lymphocyte-rich type |
|
|
MONDO:0863840 |
classic hodgkin lymphoma, lymphocyte-depleted type |
GARD:19594 |
MONDO:equivalentTo |
Classic Hodgkin lymphoma, lymphocyte-depleted type |
|
|
MONDO:0863841 |
indolent systemic mastocytosis |
GARD:19595 |
MONDO:equivalentTo |
Indolent systemic mastocytosis |
|
|
MONDO:0863842 |
systemic mastocytosis with associated hematologic neoplasm |
GARD:19596 |
MONDO:equivalentTo |
Systemic mastocytosis with associated hematologic neoplasm |
|
|
MONDO:0863843 |
aggressive systemic mastocytosis |
GARD:19597 |
MONDO:equivalentTo |
Aggressive systemic mastocytosis |
|
|
MONDO:0863844 |
mast cell leukemia |
GARD:19598 |
MONDO:equivalentTo |
Mast cell leukemia |
|
|
MONDO:0863845 |
x-linked complex spastic paraplegia |
GARD:19599 |
MONDO:equivalentTo |
X-linked complex spastic paraplegia |
|
|
MONDO:0863846 |
alpha-crystallinopathy |
GARD:19600 |
MONDO:equivalentTo |
Alpha-crystallinopathy |
|
|
MONDO:0863847 |
acute motor and sensory axonal neuropathy |
GARD:19601 |
MONDO:equivalentTo |
Acute motor and sensory axonal neuropathy |
|
|
MONDO:0863848 |
acute motor axonal neuropathy |
GARD:19602 |
MONDO:equivalentTo |
Acute motor axonal neuropathy |
|
|
MONDO:0863849 |
blake pouch cyst |
GARD:19603 |
MONDO:equivalentTo |
Blake pouch cyst |
|
|
MONDO:0863850 |
multiple system atrophy, parkinsonian type |
GARD:19604 |
MONDO:equivalentTo |
Multiple system atrophy, parkinsonian type |
|
|
MONDO:0863851 |
coloboma of eyelid |
GARD:19605 |
MONDO:equivalentTo |
Coloboma of eyelid |
|
|
MONDO:0863852 |
congenital symblepharon |
GARD:19606 |
MONDO:equivalentTo |
Congenital symblepharon |
|
|
MONDO:0863853 |
partial cryptophthalmia |
GARD:19607 |
MONDO:equivalentTo |
Partial cryptophthalmia |
|
|
MONDO:0863854 |
inverse marcus-gunn phenomenon |
GARD:19608 |
MONDO:equivalentTo |
Inverse Marcus-Gunn phenomenon |
|
|
MONDO:0863855 |
climatic droplet keratopathy |
GARD:19609 |
MONDO:equivalentTo |
Climatic droplet keratopathy |
|
|
MONDO:0863856 |
congenital hereditary endothelial dystrophy type i |
GARD:19610 |
MONDO:equivalentTo |
Congenital hereditary endothelial dystrophy type I |
|
|
MONDO:0863857 |
essential iris atrophy |
GARD:19611 |
MONDO:equivalentTo |
Essential iris atrophy |
|
|
MONDO:0863858 |
multifocal pattern dystrophy simulating fundus flavimaculatus |
GARD:19612 |
MONDO:equivalentTo |
Multifocal pattern dystrophy simulating fundus flavimaculatus |
|
|
MONDO:0863859 |
fundus pulverulentus |
GARD:19613 |
MONDO:equivalentTo |
Fundus pulverulentus |
|
|
MONDO:0863860 |
congenitally uncorrected transposition of the great arteries with coarctation |
GARD:19614 |
MONDO:equivalentTo |
Congenitally uncorrected transposition of the great arteries with coarctation |
|
|
MONDO:0863861 |
double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis |
GARD:19615 |
MONDO:equivalentTo |
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis |
|
|
MONDO:0863862 |
double outlet right ventricle with subpulmonary ventricular septal defect |
GARD:19616 |
MONDO:equivalentTo |
Double outlet right ventricle with subpulmonary ventricular septal defect |
|
|
MONDO:0863863 |
double outlet right ventricle with non-committed subpulmonary ventricular septal defect |
GARD:19617 |
MONDO:equivalentTo |
Double outlet right ventricle with non-committed subpulmonary ventricular septal defect |
|
|
MONDO:0863864 |
pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome |
GARD:19618 |
MONDO:equivalentTo |
Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome |
|
|
MONDO:0863865 |
pulmonary artery coming from patent ductus arteriosus |
GARD:19619 |
MONDO:equivalentTo |
Pulmonary artery coming from patent ductus arteriosus |
|
|
MONDO:0863866 |
discrete fibromuscular subaortic stenosis |
GARD:19620 |
MONDO:equivalentTo |
Discrete fibromuscular subaortic stenosis |
|
|
MONDO:0863867 |
tunnel subaortic stenosis |
GARD:19621 |
MONDO:equivalentTo |
Tunnel subaortic stenosis |
|
|
MONDO:0863868 |
valvular pulmonary stenosis |
GARD:19622 |
MONDO:equivalentTo |
Valvular pulmonary stenosis |
|
|
MONDO:0863869 |
congenital anomaly of the tricuspid valve chordae |
GARD:19623 |
MONDO:equivalentTo |
Congenital anomaly of the tricuspid valve chordae |
|
|
MONDO:0863870 |
parachute tricuspid valve |
GARD:19624 |
MONDO:equivalentTo |
Parachute tricuspid valve |
|
|
MONDO:0863871 |
hypoplasia of the mitral valve annulus |
GARD:19625 |
MONDO:equivalentTo |
Hypoplasia of the mitral valve annulus |
|
|
MONDO:0863872 |
congenital supravalvular mitral ring |
GARD:19626 |
MONDO:equivalentTo |
Congenital supravalvular mitral ring |
|
|
MONDO:0863873 |
congenital unguarded mitral orifice |
GARD:19627 |
MONDO:equivalentTo |
Congenital unguarded mitral orifice |
|
|
MONDO:0863874 |
accessory mitral valve tissue |
GARD:19628 |
MONDO:equivalentTo |
Accessory mitral valve tissue |
|
|
MONDO:0863875 |
mitral valve agenesis |
GARD:19629 |
MONDO:equivalentTo |
Mitral valve agenesis |
|
|
MONDO:0863876 |
shone complex |
GARD:19630 |
MONDO:equivalentTo |
Shone complex |
|
|
MONDO:0863877 |
straddling and/or overriding mitral valve |
GARD:19631 |
MONDO:equivalentTo |
Straddling and/or overriding mitral valve |
|
|
MONDO:0863878 |
aorto-right ventricular tunnel |
GARD:19632 |
MONDO:equivalentTo |
Aorto-right ventricular tunnel |
|
|
MONDO:0863879 |
aorto-left ventricular tunnel |
GARD:19633 |
MONDO:equivalentTo |
Aorto-left ventricular tunnel |
|
|
MONDO:0863880 |
congenital patent ductus arteriosus aneurysm |
GARD:19634 |
MONDO:equivalentTo |
Congenital patent ductus arteriosus aneurysm |
|
|
MONDO:0863881 |
encircling double aortic arch |
GARD:19635 |
MONDO:equivalentTo |
Encircling double aortic arch |
|
|
MONDO:0863882 |
persistent fifth aortic arch |
GARD:19636 |
MONDO:equivalentTo |
Persistent fifth aortic arch |
|
|
MONDO:0863883 |
kommerell diverticulum |
GARD:19637 |
MONDO:equivalentTo |
Kommerell diverticulum |
|
|
MONDO:0863884 |
neuhauser anomaly |
GARD:19638 |
MONDO:equivalentTo |
Neuhauser anomaly |
|
|
MONDO:0863885 |
cervical aortic arch |
GARD:19639 |
MONDO:equivalentTo |
Cervical aortic arch |
|
|
MONDO:0863886 |
right aortic arch |
GARD:19640 |
MONDO:equivalentTo |
Right aortic arch |
|
|
MONDO:0863887 |
dysphagia lusoria |
GARD:19641 |
MONDO:equivalentTo |
Dysphagia lusoria |
|
|
MONDO:0863888 |
pulmonary artery hypoplasia |
GARD:19642 |
MONDO:equivalentTo |
Pulmonary artery hypoplasia |
|
|
MONDO:0863889 |
coronary ostial stenosis or atresia |
GARD:19643 |
MONDO:equivalentTo |
Coronary ostial stenosis or atresia |
|
|
MONDO:0863890 |
abnormal number of coronary ostia |
GARD:19644 |
MONDO:equivalentTo |
Abnormal number of coronary ostia |
|
|
MONDO:0863891 |
malposition of a coronary ostium |
GARD:19645 |
MONDO:equivalentTo |
Malposition of a coronary ostium |
|
|
MONDO:0863892 |
laubry-pezzi syndrome |
GARD:19646 |
MONDO:equivalentTo |
Laubry-Pezzi syndrome |
|
|
MONDO:0863893 |
congenital gerbode defect |
GARD:19647 |
MONDO:equivalentTo |
Congenital Gerbode defect |
|
|
MONDO:0863894 |
juxtaposition of the atrial appendages |
GARD:19648 |
MONDO:equivalentTo |
Juxtaposition of the atrial appendages |
|
|
MONDO:0863895 |
ectasia of the right atrial appendage |
GARD:19649 |
MONDO:equivalentTo |
Ectasia of the right atrial appendage |
|
|
MONDO:0863896 |
ectasia of the left atrial appendage |
GARD:19650 |
MONDO:equivalentTo |
Ectasia of the left atrial appendage |
|
|
MONDO:0863897 |
atrial septal aneurysm |
GARD:19651 |
MONDO:equivalentTo |
Atrial septal aneurysm |
|
|
MONDO:0863898 |
persistent left superior vena cava connecting through coronary sinus to left-sided atrium |
GARD:19652 |
MONDO:equivalentTo |
Persistent left superior vena cava connecting through coronary sinus to left-sided atrium |
|
|
MONDO:0863899 |
right superior vena cava connecting to left-sided atrium |
GARD:19653 |
MONDO:equivalentTo |
Right superior vena cava connecting to left-sided atrium |
|
|
MONDO:0863900 |
persistent left superior vena cava connecting to the roof of left-sided atrium |
GARD:19654 |
MONDO:equivalentTo |
Persistent left superior vena cava connecting to the roof of left-sided atrium |
|
|
MONDO:0863901 |
absence of innominate vein |
GARD:19655 |
MONDO:equivalentTo |
Absence of innominate vein |
|
|
MONDO:0863902 |
subaortic course of innominate vein |
GARD:19656 |
MONDO:equivalentTo |
Subaortic course of innominate vein |
|
|
MONDO:0863903 |
agenesis of the superior vena cava |
GARD:19657 |
MONDO:equivalentTo |
Agenesis of the superior vena cava |
|
|
MONDO:0863904 |
coronary sinus stenosis |
GARD:19658 |
MONDO:equivalentTo |
Coronary sinus stenosis |
|
|
MONDO:0863905 |
coronary sinus atresia |
GARD:19659 |
MONDO:equivalentTo |
Coronary sinus atresia |
|
|
MONDO:0863906 |
right inferior vena cava connecting to left-sided atrium |
GARD:19660 |
MONDO:equivalentTo |
Right inferior vena cava connecting to left-sided atrium |
|
|
MONDO:0863907 |
persistent eustachian valve |
GARD:19661 |
MONDO:equivalentTo |
Persistent eustachian valve |
|
|
MONDO:0863908 |
azygos continuation of the inferior vena cava |
GARD:19662 |
MONDO:equivalentTo |
Azygos continuation of the inferior vena cava |
|
|
MONDO:0863909 |
congenital stenosis of the inferior vena cava |
GARD:19663 |
MONDO:equivalentTo |
Congenital stenosis of the inferior vena cava |
|
|
MONDO:0863910 |
inferior vena cava interruption without azygos continuation |
GARD:19664 |
MONDO:equivalentTo |
Inferior vena cava interruption without azygos continuation |
|
|
MONDO:0863911 |
congenital partial pulmonary venous return anomaly |
GARD:19665 |
MONDO:equivalentTo |
Congenital partial pulmonary venous return anomaly |
|
|
MONDO:0863912 |
congenital complete agenesis of pericardium |
GARD:19666 |
MONDO:equivalentTo |
Congenital complete agenesis of pericardium |
|
|
MONDO:0863913 |
congenital partial agenesis of pericardium |
GARD:19667 |
MONDO:equivalentTo |
Congenital partial agenesis of pericardium |
|
|
MONDO:0863914 |
pleuro-pericardial cyst |
GARD:19668 |
MONDO:equivalentTo |
Pleuro-pericardial cyst |
|
|
MONDO:0863915 |
hemolytic anemia due to erythrocyte adenosine deaminase overproduction |
GARD:19669 |
MONDO:equivalentTo |
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction |
|
|
MONDO:0863916 |
unstable hemoglobin disease |
GARD:19670 |
MONDO:equivalentTo |
Unstable hemoglobin disease |
|
|
MONDO:0863917 |
epiblepharon |
GARD:19671 |
MONDO:equivalentTo |
Epiblepharon |
|
|
MONDO:0863918 |
tarsal kink syndrome |
GARD:19672 |
MONDO:equivalentTo |
Tarsal kink syndrome |
|
|
MONDO:0863919 |
isolated congenital ectropion |
GARD:19673 |
MONDO:equivalentTo |
Isolated congenital ectropion |
|
|
MONDO:0863920 |
euryblepharon |
GARD:19674 |
MONDO:equivalentTo |
Euryblepharon |
|
|
MONDO:0863921 |
congenital eyelid retraction |
GARD:19675 |
MONDO:equivalentTo |
Congenital eyelid retraction |
|
|
MONDO:0863922 |
monosomy x |
GARD:19676 |
MONDO:equivalentTo |
Monosomy X |
|
|
MONDO:0863923 |
mosaic monosomy x |
GARD:19677 |
MONDO:equivalentTo |
Mosaic monosomy X |
|
|
MONDO:0863924 |
paternal uniparental disomy of chromosome 13 |
GARD:19678 |
MONDO:equivalentTo |
Paternal uniparental disomy of chromosome 13 |
|
|
MONDO:0863925 |
49,xyyyy syndrome |
GARD:19679 |
MONDO:equivalentTo |
49,XYYYY syndrome |
|
|
MONDO:0863926 |
pituitary adenoma |
GARD:19680 |
MONDO:equivalentTo |
Pituitary adenoma |
|
|
MONDO:0863927 |
turner syndrome due to structural x chromosome anomalies |
GARD:19681 |
MONDO:equivalentTo |
Turner syndrome due to structural X chromosome anomalies |
|
|
MONDO:0863928 |
cheirospondyloenchondromatosis |
GARD:19682 |
MONDO:equivalentTo |
Cheirospondyloenchondromatosis |
|
|
MONDO:0863929 |
dermotrichic syndrome |
GARD:19683 |
MONDO:equivalentTo |
Dermotrichic syndrome |
|
|
MONDO:0863930 |
mesial temporal lobe epilepsy with hippocampal sclerosis |
GARD:19684 |
MONDO:equivalentTo |
Mesial temporal lobe epilepsy with hippocampal sclerosis |
|
|
MONDO:0863931 |
early-onset obesity-hyperphagia-severe developmental delay syndrome |
GARD:19685 |
MONDO:equivalentTo |
Early-onset obesity-hyperphagia-severe developmental delay syndrome |
|
|
MONDO:0863932 |
rare familial disorder with hypertrophic cardiomyopathy |
GARD:19686 |
MONDO:equivalentTo |
Rare familial disorder with hypertrophic cardiomyopathy |
|
|
MONDO:0863933 |
bifid uvula |
GARD:19687 |
MONDO:equivalentTo |
Bifid uvula |
|
|
MONDO:0863934 |
lassa fever |
GARD:19688 |
MONDO:equivalentTo |
Lassa fever |
|
|
MONDO:0863935 |
nipah virus disease |
GARD:19689 |
MONDO:equivalentTo |
Nipah virus disease |
|
|
MONDO:0863936 |
crimean-congo hemorrhagic fever |
GARD:19690 |
MONDO:equivalentTo |
Crimean-Congo hemorrhagic fever |
|
|
MONDO:0863937 |
primary syringomyelia |
GARD:19691 |
MONDO:equivalentTo |
Primary syringomyelia |
|
|
MONDO:0863938 |
secondary syringomyelia |
GARD:19692 |
MONDO:equivalentTo |
Secondary syringomyelia |
|
|
MONDO:0863939 |
idiopathic syringomyelia |
GARD:19693 |
MONDO:equivalentTo |
Idiopathic syringomyelia |
|
|
MONDO:0863940 |
precursor t-cell acute lymphoblastic leukemia |
GARD:19694 |
MONDO:equivalentTo |
Precursor T-cell acute lymphoblastic leukemia |
|
|
MONDO:0863941 |
thymic carcinoma |
GARD:19695 |
MONDO:equivalentTo |
Thymic carcinoma |
|
|
MONDO:0863942 |
thymic neuroendocrine carcinoma |
GARD:19696 |
MONDO:equivalentTo |
Thymic neuroendocrine carcinoma |
|
|
MONDO:0863943 |
acute megakaryoblastic leukemia in down syndrome |
GARD:19697 |
MONDO:equivalentTo |
Acute megakaryoblastic leukemia in Down syndrome |
|
|
MONDO:0863944 |
cushing syndrome due to ectopic acth secretion |
GARD:19698 |
MONDO:equivalentTo |
Cushing syndrome due to ectopic ACTH secretion |
|
|
MONDO:0863945 |
acth-dependent cushing syndrome |
GARD:19699 |
MONDO:equivalentTo |
ACTH-dependent Cushing syndrome |
|
|
MONDO:0863946 |
acth-independent cushing syndrome |
GARD:19700 |
MONDO:equivalentTo |
ACTH-independent Cushing syndrome |
|
|
MONDO:0863947 |
spirillary rat-bite fever |
GARD:19701 |
MONDO:equivalentTo |
Spirillary rat-bite fever |
|
|
MONDO:0863948 |
streptobacillary rat-bite fever |
GARD:19702 |
MONDO:equivalentTo |
Streptobacillary rat-bite fever |
|
|
MONDO:0863949 |
house allergic alveolitis |
GARD:19703 |
MONDO:equivalentTo |
House allergic alveolitis |
|
|
MONDO:0863950 |
occupational allergic alveolitis |
GARD:19704 |
MONDO:equivalentTo |
Occupational allergic alveolitis |
|
|
MONDO:0863951 |
malignant dysgerminomatous germ cell tumor of the ovary |
GARD:19705 |
MONDO:equivalentTo |
Malignant dysgerminomatous germ cell tumor of the ovary |
|
|
MONDO:0863952 |
extragonadal non-dysgerminomatous germ cell tumor |
GARD:19706 |
MONDO:equivalentTo |
Extragonadal non-dysgerminomatous germ cell tumor |
|
|
MONDO:0863953 |
maligant granulosa cell tumor of the ovary |
GARD:19707 |
MONDO:equivalentTo |
Maligant granulosa cell tumor of the ovary |
|
|
MONDO:0863954 |
theca steroid-producing cell malignant tumor of ovary, not further specified |
GARD:19708 |
MONDO:equivalentTo |
Theca steroid-producing cell malignant tumor of ovary, not further specified |
|
|
MONDO:0863955 |
streptococcal toxic-shock syndrome |
GARD:19709 |
MONDO:equivalentTo |
Streptococcal toxic-shock syndrome |
|
|
MONDO:0863956 |
staphylococcal toxic-shock syndrome |
GARD:19710 |
MONDO:equivalentTo |
Staphylococcal toxic-shock syndrome |
|
|
MONDO:0863957 |
invasive mole |
GARD:19711 |
MONDO:equivalentTo |
Invasive mole |
|
|
MONDO:0863958 |
gestational choriocarcinoma |
GARD:19712 |
MONDO:equivalentTo |
Gestational choriocarcinoma |
|
|
MONDO:0863959 |
secondary pulmonary hemosiderosis |
GARD:19713 |
MONDO:equivalentTo |
Secondary pulmonary hemosiderosis |
|
|
MONDO:0863960 |
heiner syndrome |
GARD:19714 |
MONDO:equivalentTo |
Heiner syndrome |
|
|
MONDO:0863961 |
pleuropulmonary blastoma type 1 |
GARD:19715 |
MONDO:equivalentTo |
Pleuropulmonary blastoma type 1 |
|
|
MONDO:0863962 |
pleuropulmonary blastoma type 2 |
GARD:19716 |
MONDO:equivalentTo |
Pleuropulmonary blastoma type 2 |
|
|
MONDO:0863963 |
pleuropulmonary blastoma type 3 |
GARD:19717 |
MONDO:equivalentTo |
Pleuropulmonary blastoma type 3 |
|
|
MONDO:0863964 |
o'sullivan-mcleod syndrome |
GARD:19718 |
MONDO:equivalentTo |
O'Sullivan-McLeod syndrome |
|
|
MONDO:0863965 |
pleomorphic liposarcoma |
GARD:19719 |
MONDO:equivalentTo |
Pleomorphic liposarcoma |
|
|
MONDO:0863966 |
dedifferentiated liposarcoma |
GARD:19720 |
MONDO:equivalentTo |
Dedifferentiated liposarcoma |
|
|
MONDO:0863967 |
well-differentiated liposarcoma |
GARD:19721 |
MONDO:equivalentTo |
Well-differentiated liposarcoma |
|
|
MONDO:0863968 |
apnea of prematurity |
GARD:19722 |
MONDO:equivalentTo |
Apnea of prematurity |
|
|
MONDO:0863969 |
cutaneous myiasis |
GARD:19723 |
MONDO:equivalentTo |
Cutaneous myiasis |
|
|
MONDO:0863970 |
intermediate dend syndrome |
GARD:19724 |
MONDO:equivalentTo |
Intermediate DEND syndrome |
|
|
MONDO:0863971 |
brill-zinsser disease |
GARD:19725 |
MONDO:equivalentTo |
Brill-Zinsser disease |
|
|
MONDO:0863972 |
relapsing epidemic typhus |
GARD:19726 |
MONDO:equivalentTo |
Relapsing epidemic typhus |
|
|
MONDO:0863973 |
complex regional pain syndrome type 2 |
GARD:19727 |
MONDO:equivalentTo |
Complex regional pain syndrome type 2 |
|
|
MONDO:0863974 |
reticular perineurioma |
GARD:19728 |
MONDO:equivalentTo |
Reticular perineurioma |
|
|
MONDO:0863975 |
sclerosing perineurioma |
GARD:19729 |
MONDO:equivalentTo |
Sclerosing perineurioma |
|
|
MONDO:0863976 |
extraneural perineurioma |
GARD:19730 |
MONDO:equivalentTo |
Extraneural perineurioma |
|
|
MONDO:0863977 |
lissencephaly with cerebellar hypoplasia type a |
GARD:19731 |
MONDO:equivalentTo |
Lissencephaly with cerebellar hypoplasia type A |
|
|
MONDO:0863978 |
lissencephaly with cerebellar hypoplasia type b |
GARD:19732 |
MONDO:equivalentTo |
Lissencephaly with cerebellar hypoplasia type B |
|
|
MONDO:0863979 |
lissencephaly with cerebellar hypoplasia type c |
GARD:19733 |
MONDO:equivalentTo |
Lissencephaly with cerebellar hypoplasia type C |
|
|
MONDO:0863980 |
lissencephaly with cerebellar hypoplasia type d |
GARD:19734 |
MONDO:equivalentTo |
Lissencephaly with cerebellar hypoplasia type D |
|
|
MONDO:0863981 |
lissencephaly with cerebellar hypoplasia type e |
GARD:19735 |
MONDO:equivalentTo |
Lissencephaly with cerebellar hypoplasia type E |
|
|
MONDO:0863982 |
lissencephaly with cerebellar hypoplasia type f |
GARD:19736 |
MONDO:equivalentTo |
Lissencephaly with cerebellar hypoplasia type F |
|
|
MONDO:0863983 |
refractory anemia with excess blasts type 1 |
GARD:19737 |
MONDO:equivalentTo |
Refractory anemia with excess blasts type 1 |
|
|
MONDO:0863984 |
refractory anemia with excess blasts type 2 |
GARD:19738 |
MONDO:equivalentTo |
Refractory anemia with excess blasts type 2 |
|
|
MONDO:0863985 |
primary plasmacytoma of the bone |
GARD:19739 |
MONDO:equivalentTo |
Primary plasmacytoma of the bone |
|
|
MONDO:0863986 |
extramedullary soft tissue plasmacytoma |
GARD:19740 |
MONDO:equivalentTo |
Extramedullary soft tissue plasmacytoma |
|
|
MONDO:0863987 |
mu-heavy chain disease |
GARD:19741 |
MONDO:equivalentTo |
Mu-heavy chain disease |
|
|
MONDO:0863988 |
alpha-heavy chain disease |
GARD:19742 |
MONDO:equivalentTo |
Alpha-heavy chain disease |
|
|
MONDO:0863989 |
solitary necrotic nodule of the liver |
GARD:19743 |
MONDO:equivalentTo |
Solitary necrotic nodule of the liver |
|
|
MONDO:0863990 |
esophageal duplication cyst |
GARD:19744 |
MONDO:equivalentTo |
Esophageal duplication cyst |
|
|
MONDO:0863991 |
tubular duplication of the esophagus |
GARD:19745 |
MONDO:equivalentTo |
Tubular duplication of the esophagus |
|
|
MONDO:0863992 |
primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies |
GARD:19746 |
MONDO:equivalentTo |
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies |
|
|
MONDO:0863993 |
acquired angioedema type 2 |
GARD:19747 |
MONDO:equivalentTo |
Acquired angioedema type 2 |
|
|
MONDO:0863994 |
acquired angioedema type 1 |
GARD:19748 |
MONDO:equivalentTo |
Acquired angioedema type 1 |
|
|
MONDO:0863995 |
neurogenic thoracic outlet syndrome |
GARD:19749 |
MONDO:equivalentTo |
Neurogenic thoracic outlet syndrome |
|
|
MONDO:0863996 |
duplication of urethra |
GARD:1975 |
MONDO:equivalentTo |
Duplication of urethra |
|
|
MONDO:0863997 |
neuroendocrine tumor of stomach |
GARD:19750 |
MONDO:equivalentTo |
Neuroendocrine tumor of stomach |
|
|
MONDO:0863998 |
duodenal neuroendocrine tumor |
GARD:19751 |
MONDO:equivalentTo |
Duodenal neuroendocrine tumor |
|
|
MONDO:0863999 |
jejunal neuroendocrine tumor |
GARD:19752 |
MONDO:equivalentTo |
Jejunal neuroendocrine tumor |
|
|
MONDO:0864000 |
ileal neuroendocrine tumor |
GARD:19753 |
MONDO:equivalentTo |
Ileal neuroendocrine tumor |
|
|
MONDO:0864001 |
neuroendocrine neoplasm of appendix |
GARD:19754 |
MONDO:equivalentTo |
Neuroendocrine neoplasm of appendix |
|
|
MONDO:0864002 |
neuroendocrine tumor of the colon |
GARD:19755 |
MONDO:equivalentTo |
Neuroendocrine tumor of the colon |
|
|
MONDO:0864003 |
neuroendocrine tumor of the rectum |
GARD:19756 |
MONDO:equivalentTo |
Neuroendocrine tumor of the rectum |
|
|
MONDO:0864004 |
neuroendocrine tumor of anal canal |
GARD:19757 |
MONDO:equivalentTo |
Neuroendocrine tumor of anal canal |
|
|
MONDO:0864005 |
laryngeal neuroendocrine tumor |
GARD:19758 |
MONDO:equivalentTo |
Laryngeal neuroendocrine tumor |
|
|
MONDO:0864006 |
middle ear neuroendocrine tumor |
GARD:19759 |
MONDO:equivalentTo |
Middle ear neuroendocrine tumor |
|
|
MONDO:0864007 |
primary hepatic neuroendocrine carcinoma |
GARD:19760 |
MONDO:equivalentTo |
Primary hepatic neuroendocrine carcinoma |
|
|
MONDO:0864008 |
gallbladder neuroendocrine tumor |
GARD:19761 |
MONDO:equivalentTo |
Gallbladder neuroendocrine tumor |
|
|
MONDO:0864009 |
thyroid tumor |
GARD:19762 |
MONDO:equivalentTo |
Thyroid tumor |
|
|
MONDO:0864010 |
thyroid carcinoma |
GARD:19763 |
MONDO:equivalentTo |
Thyroid carcinoma |
|
|
MONDO:0864011 |
rare parathyroid tumor |
GARD:19764 |
MONDO:equivalentTo |
Rare parathyroid tumor |
|
|
MONDO:0864012 |
adrenal/paraganglial tumor |
GARD:19765 |
MONDO:equivalentTo |
Adrenal/paraganglial tumor |
|
|
MONDO:0864013 |
multiple polyglandular tumor |
GARD:19766 |
MONDO:equivalentTo |
Multiple polyglandular tumor |
|
|
MONDO:0864014 |
thymic tumor |
GARD:19767 |
MONDO:equivalentTo |
Thymic tumor |
|
|
MONDO:0864015 |
neuroendocrine tumor with other location |
GARD:19768 |
MONDO:equivalentTo |
Neuroendocrine tumor with other location |
|
|
MONDO:0864016 |
fraxf syndrome |
GARD:19769 |
MONDO:equivalentTo |
FRAXF syndrome |
|
|
MONDO:0864017 |
autosomal dominant complex spastic paraplegia |
GARD:19770 |
MONDO:equivalentTo |
Autosomal dominant complex spastic paraplegia |
|
|
MONDO:0864018 |
autosomal dominant pure spastic paraplegia |
GARD:19771 |
MONDO:equivalentTo |
Autosomal dominant pure spastic paraplegia |
|
|
MONDO:0864019 |
autosomal recessive complex spastic paraplegia |
GARD:19772 |
MONDO:equivalentTo |
Autosomal recessive complex spastic paraplegia |
|
|
MONDO:0864020 |
autosomal recessive pure spastic paraplegia |
GARD:19773 |
MONDO:equivalentTo |
Autosomal recessive pure spastic paraplegia |
|
|
MONDO:0864021 |
cleft hard palate |
GARD:19774 |
MONDO:equivalentTo |
Cleft hard palate |
|
|
MONDO:0864022 |
sub-cortical nodular heterotopia |
GARD:19775 |
MONDO:equivalentTo |
Sub-cortical nodular heterotopia |
|
|
MONDO:0864023 |
congenital aortic valve dysplasia |
GARD:19776 |
MONDO:equivalentTo |
Congenital aortic valve dysplasia |
|
|
MONDO:0864024 |
unilateral hemispheric polymicrogyria |
GARD:19777 |
MONDO:equivalentTo |
Unilateral hemispheric polymicrogyria |
|
|
MONDO:0864025 |
aregenerative anemia |
GARD:19778 |
MONDO:equivalentTo |
Aregenerative anemia |
|
|
MONDO:0864026 |
marin-amat syndrome |
GARD:19779 |
MONDO:equivalentTo |
Marin-Amat syndrome |
|
|
MONDO:0864027 |
pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome |
GARD:19780 |
MONDO:equivalentTo |
Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome |
|
|
MONDO:0864028 |
african tick typhus |
GARD:19781 |
MONDO:equivalentTo |
African tick typhus |
|
|
MONDO:0864029 |
rare genetic eye disease |
GARD:19782 |
MONDO:equivalentTo |
Rare genetic eye disease |
|
|
MONDO:0864030 |
rare non-syndromic intellectual disability |
GARD:19783 |
MONDO:equivalentTo |
Rare non-syndromic intellectual disability |
|
|
MONDO:0864031 |
anomaly of the mitral subvalvular apparatus |
GARD:19784 |
MONDO:equivalentTo |
Anomaly of the mitral subvalvular apparatus |
|
|
MONDO:0864032 |
genetic cardiac rhythm disease |
GARD:19785 |
MONDO:equivalentTo |
Genetic cardiac rhythm disease |
|
|
MONDO:0864033 |
rare gastroesophageal disease |
GARD:19786 |
MONDO:equivalentTo |
Rare gastroesophageal disease |
|
|
MONDO:0864034 |
rare pancreatic disease |
GARD:19787 |
MONDO:equivalentTo |
Rare pancreatic disease |
|
|
MONDO:0864035 |
rare vascular liver disease |
GARD:19788 |
MONDO:equivalentTo |
Rare vascular liver disease |
|
|
MONDO:0864036 |
rare parenchymal liver disease |
GARD:19789 |
MONDO:equivalentTo |
Rare parenchymal liver disease |
|
|
MONDO:0864037 |
rare metabolic liver disease |
GARD:19790 |
MONDO:equivalentTo |
Rare metabolic liver disease |
|
|
MONDO:0864038 |
rare biliary tract disease |
GARD:19791 |
MONDO:equivalentTo |
Rare biliary tract disease |
|
|
MONDO:0864039 |
rare hepatic and biliary tract tumor |
GARD:19792 |
MONDO:equivalentTo |
Rare hepatic and biliary tract tumor |
|
|
MONDO:0864040 |
rare pulmonary disease |
GARD:19793 |
MONDO:equivalentTo |
Rare pulmonary disease |
|
|
MONDO:0864041 |
rare bronchopulmonary tumor |
GARD:19794 |
MONDO:equivalentTo |
Rare bronchopulmonary tumor |
|
|
MONDO:0864042 |
rare eye tumor |
GARD:19795 |
MONDO:equivalentTo |
Rare eye tumor |
|
|
MONDO:0864043 |
rare diabetes mellitus |
GARD:19796 |
MONDO:equivalentTo |
Rare diabetes mellitus |
|
|
MONDO:0864044 |
rare dyslipidemia |
GARD:19797 |
MONDO:equivalentTo |
Rare dyslipidemia |
|
|
MONDO:0864045 |
rare adrenal disease |
GARD:19798 |
MONDO:equivalentTo |
Rare adrenal disease |
|
|
MONDO:0864046 |
rare thyroid disease |
GARD:19799 |
MONDO:equivalentTo |
Rare thyroid disease |
|
|
MONDO:0864047 |
proximal spinal muscular atrophy type 3 |
GARD:198 |
MONDO:equivalentTo |
Proximal spinal muscular atrophy type 3 |
|
|
MONDO:0864048 |
polyendocrinopathy |
GARD:19800 |
MONDO:equivalentTo |
Polyendocrinopathy |
|
|
MONDO:0864049 |
pituitary deficiency |
GARD:19801 |
MONDO:equivalentTo |
Pituitary deficiency |
|
|
MONDO:0864050 |
primary adrenal insufficiency |
GARD:19802 |
MONDO:equivalentTo |
Primary adrenal insufficiency |
|
|
MONDO:0864051 |
chronic primary adrenal insufficiency |
GARD:19803 |
MONDO:equivalentTo |
Chronic primary adrenal insufficiency |
|
|
MONDO:0864052 |
genetic chronic primary adrenal insufficiency |
GARD:19804 |
MONDO:equivalentTo |
Genetic chronic primary adrenal insufficiency |
|
|
MONDO:0864053 |
acquired chronic primary adrenal insufficiency |
GARD:19805 |
MONDO:equivalentTo |
Acquired chronic primary adrenal insufficiency |
|
|
MONDO:0864054 |
combined t and b cell immunodeficiency |
GARD:19806 |
MONDO:equivalentTo |
Combined T and B cell immunodeficiency |
|
|
MONDO:0864055 |
immunodeficiency predominantly affecting antibody production |
GARD:19807 |
MONDO:equivalentTo |
Immunodeficiency predominantly affecting antibody production |
|
|
MONDO:0864056 |
quantitative and/or qualitative congenital phagocyte defect |
GARD:19808 |
MONDO:equivalentTo |
Quantitative and/or qualitative congenital phagocyte defect |
|
|
MONDO:0864057 |
constitutional neutropenia |
GARD:19809 |
MONDO:equivalentTo |
Constitutional neutropenia |
|
|
MONDO:0864058 |
primary immunodeficiency due to a defect in innate immunity |
GARD:19810 |
MONDO:equivalentTo |
Primary immunodeficiency due to a defect in innate immunity |
|
|
MONDO:0864059 |
immunodeficiency due to a complement cascade protein anomaly |
GARD:19811 |
MONDO:equivalentTo |
Immunodeficiency due to a complement cascade protein anomaly |
|
|
MONDO:0864060 |
periodic fever syndrome |
GARD:19812 |
MONDO:equivalentTo |
Periodic fever syndrome |
|
|
MONDO:0864061 |
primary immunodeficiency |
GARD:19813 |
MONDO:equivalentTo |
Primary immunodeficiency |
|
|
MONDO:0864062 |
rare epilepsy |
GARD:19814 |
MONDO:equivalentTo |
Rare epilepsy |
|
|
MONDO:0864063 |
medullar disease |
GARD:19815 |
MONDO:equivalentTo |
Medullar disease |
|
|
MONDO:0864064 |
rare ataxia |
GARD:19816 |
MONDO:equivalentTo |
Rare ataxia |
|
|
MONDO:0864065 |
rare movement disorder |
GARD:19817 |
MONDO:equivalentTo |
Rare movement disorder |
|
|
MONDO:0864066 |
brain inflammatory disease |
GARD:19818 |
MONDO:equivalentTo |
Brain inflammatory disease |
|
|
MONDO:0864067 |
neurovascular malformation |
GARD:19819 |
MONDO:equivalentTo |
Neurovascular malformation |
|
|
MONDO:0864068 |
other syndrome with lissencephaly as a major feature |
GARD:19820 |
MONDO:equivalentTo |
Other syndrome with lissencephaly as a major feature |
|
|
MONDO:0864069 |
lissencephaly type 3 |
GARD:19821 |
MONDO:equivalentTo |
Lissencephaly type 3 |
|
|
MONDO:0864070 |
pure hereditary spastic paraplegia |
GARD:19822 |
MONDO:equivalentTo |
Pure hereditary spastic paraplegia |
|
|
MONDO:0864071 |
complex hereditary spastic paraplegia |
GARD:19823 |
MONDO:equivalentTo |
Complex hereditary spastic paraplegia |
|
|
MONDO:0864072 |
autosomal dominant limb-girdle muscular dystrophy |
GARD:19824 |
MONDO:equivalentTo |
Autosomal dominant limb-girdle muscular dystrophy |
|
|
MONDO:0864073 |
autosomal recessive limb-girdle muscular dystrophy |
GARD:19825 |
MONDO:equivalentTo |
Autosomal recessive limb-girdle muscular dystrophy |
|
|
MONDO:0864074 |
autosomal monosomy |
GARD:19826 |
MONDO:equivalentTo |
Autosomal monosomy |
|
|
MONDO:0864075 |
rickettsial disease |
GARD:19827 |
MONDO:equivalentTo |
Rickettsial disease |
|
|
MONDO:0864076 |
spotted fever rickettsiosis |
GARD:19828 |
MONDO:equivalentTo |
Spotted fever rickettsiosis |
|
|
MONDO:0864077 |
typhus-group rickettsiosis |
GARD:19829 |
MONDO:equivalentTo |
Typhus-group rickettsiosis |
|
|
MONDO:0864078 |
human herpesvirus 8-related disorder |
GARD:19830 |
MONDO:equivalentTo |
Human herpesvirus 8-related disorder |
|
|
MONDO:0864079 |
unexplained periodic fever syndrome |
GARD:19831 |
MONDO:equivalentTo |
Unexplained periodic fever syndrome |
|
|
MONDO:0864080 |
multiple congenital anomalies/dysmorphic syndrome-intellectual disability |
GARD:19832 |
MONDO:equivalentTo |
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability |
|
|
MONDO:0864081 |
multiple congenital anomalies/dysmorphic syndrome without intellectual disability |
GARD:19833 |
MONDO:equivalentTo |
Multiple congenital anomalies/dysmorphic syndrome without intellectual disability |
|
|
MONDO:0864082 |
rare syndromic intellectual disability |
GARD:19834 |
MONDO:equivalentTo |
Rare syndromic intellectual disability |
|
|
MONDO:0864083 |
acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent |
GARD:19835 |
MONDO:equivalentTo |
Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent |
|
|
MONDO:0864084 |
acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor |
GARD:19836 |
MONDO:equivalentTo |
Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor |
|
|
MONDO:0864085 |
acute myeloid leukemia with t(8;21)(q22;q22) translocation |
GARD:19837 |
MONDO:equivalentTo |
Acute myeloid leukemia with t(8;21)(q22;q22) translocation |
|
|
MONDO:0864086 |
chronic diarrhea due to glucoamylase deficiency |
GARD:19838 |
MONDO:equivalentTo |
Chronic diarrhea due to glucoamylase deficiency |
|
|
MONDO:0864087 |
congenital enterocyte heparan sulfate deficiency |
GARD:19839 |
MONDO:equivalentTo |
Congenital enterocyte heparan sulfate deficiency |
|
|
MONDO:0864088 |
undetermined colitis |
GARD:19840 |
MONDO:equivalentTo |
Undetermined colitis |
|
|
MONDO:0864089 |
congenital intestinal transport defect |
GARD:19841 |
MONDO:equivalentTo |
Congenital intestinal transport defect |
|
|
MONDO:0864090 |
intestinal disease due to vitamin absorption anomaly |
GARD:19842 |
MONDO:equivalentTo |
Intestinal disease due to vitamin absorption anomaly |
|
|
MONDO:0864091 |
intestinal disease due to fat malabsorption |
GARD:19843 |
MONDO:equivalentTo |
Intestinal disease due to fat malabsorption |
|
|
MONDO:0864092 |
congenital intestinal disease due to an enzymatic defect |
GARD:19844 |
MONDO:equivalentTo |
Congenital intestinal disease due to an enzymatic defect |
|
|
MONDO:0864093 |
congenital enteropathy involving intestinal mucosa development |
GARD:19845 |
MONDO:equivalentTo |
Congenital enteropathy involving intestinal mucosa development |
|
|
MONDO:0864094 |
rare disease involving intestinal motility |
GARD:19846 |
MONDO:equivalentTo |
Rare disease involving intestinal motility |
|
|
MONDO:0864095 |
intestinal polyposis syndrome |
GARD:19847 |
MONDO:equivalentTo |
Intestinal polyposis syndrome |
|
|
MONDO:0864096 |
rare tumor of intestine |
GARD:19848 |
MONDO:equivalentTo |
Rare tumor of intestine |
|
|
MONDO:0864097 |
rare inflammatory bowel disease |
GARD:19849 |
MONDO:equivalentTo |
Rare inflammatory bowel disease |
|
|
MONDO:0864098 |
metabolic disease with intestinal involvement |
GARD:19850 |
MONDO:equivalentTo |
Metabolic disease with intestinal involvement |
|
|
MONDO:0864099 |
adenocarcinoma of the small intestine |
GARD:19851 |
MONDO:equivalentTo |
Adenocarcinoma of the small intestine |
|
|
MONDO:0864100 |
leiomyosarcoma of small intestine |
GARD:19852 |
MONDO:equivalentTo |
Leiomyosarcoma of small intestine |
|
|
MONDO:0864101 |
myopathic intestinal pseudoobstruction |
GARD:19853 |
MONDO:equivalentTo |
Myopathic intestinal pseudoobstruction |
|
|
MONDO:0864102 |
unclassified intestinal pseudoobstruction |
GARD:19854 |
MONDO:equivalentTo |
Unclassified intestinal pseudoobstruction |
|
|
MONDO:0864103 |
non-syndromic esophageal malformation |
GARD:19855 |
MONDO:equivalentTo |
Non-syndromic esophageal malformation |
|
|
MONDO:0864104 |
syndromic esophageal malformation |
GARD:19856 |
MONDO:equivalentTo |
Syndromic esophageal malformation |
|
|
MONDO:0864105 |
non-syndromic gastroduodenal malformation |
GARD:19857 |
MONDO:equivalentTo |
Non-syndromic gastroduodenal malformation |
|
|
MONDO:0864106 |
syndromic gastroduodenal malformation |
GARD:19858 |
MONDO:equivalentTo |
Syndromic gastroduodenal malformation |
|
|
MONDO:0864107 |
non-syndromic intestinal malformation |
GARD:19859 |
MONDO:equivalentTo |
Non-syndromic intestinal malformation |
|
|
MONDO:0864108 |
syndromic intestinal malformation |
GARD:19860 |
MONDO:equivalentTo |
Syndromic intestinal malformation |
|
|
MONDO:0864109 |
non-syndromic visceral malformation |
GARD:19861 |
MONDO:equivalentTo |
Non-syndromic visceral malformation |
|
|
MONDO:0864110 |
syndromic visceral malformation |
GARD:19862 |
MONDO:equivalentTo |
Syndromic visceral malformation |
|
|
MONDO:0864111 |
non-syndromic diaphragmatic or abdominal wall malformation |
GARD:19863 |
MONDO:equivalentTo |
Non-syndromic diaphragmatic or abdominal wall malformation |
|
|
MONDO:0864112 |
syndromic diaphragmatic or abdominal wall malformation |
GARD:19864 |
MONDO:equivalentTo |
Syndromic diaphragmatic or abdominal wall malformation |
|
|
MONDO:0864113 |
non-syndromic central nervous system malformation |
GARD:19865 |
MONDO:equivalentTo |
Non-syndromic central nervous system malformation |
|
|
MONDO:0864114 |
syndrome with a central nervous system malformation as a major feature |
GARD:19866 |
MONDO:equivalentTo |
Syndrome with a central nervous system malformation as a major feature |
|
|
MONDO:0864115 |
non-syndromic respiratory or mediastinal malformation |
GARD:19867 |
MONDO:equivalentTo |
Non-syndromic respiratory or mediastinal malformation |
|
|
MONDO:0864116 |
syndromic respiratory or mediastinal malformation |
GARD:19868 |
MONDO:equivalentTo |
Syndromic respiratory or mediastinal malformation |
|
|
MONDO:0864117 |
rare anemia |
GARD:19869 |
MONDO:equivalentTo |
Rare anemia |
|
|
MONDO:0864118 |
arthrogryposis syndrome |
GARD:19870 |
MONDO:equivalentTo |
Arthrogryposis syndrome |
|
|
MONDO:0864119 |
syndrome with limb malformations as a major feature |
GARD:19871 |
MONDO:equivalentTo |
Syndrome with limb malformations as a major feature |
|
|
MONDO:0864120 |
non-syndromic limb malformation |
GARD:19872 |
MONDO:equivalentTo |
Non-syndromic limb malformation |
|
|
MONDO:0864121 |
rare intestinal disease |
GARD:19873 |
MONDO:equivalentTo |
Rare intestinal disease |
|
|
MONDO:0864122 |
syndromic anorectal malformation |
GARD:19874 |
MONDO:equivalentTo |
Syndromic anorectal malformation |
|
|
MONDO:0864123 |
neonatal hypoxic and ischemic brain injury |
GARD:19875 |
MONDO:equivalentTo |
Neonatal hypoxic and ischemic brain injury |
|
|
MONDO:0864124 |
vulvar intraepithelial neoplasia |
GARD:19876 |
MONDO:equivalentTo |
Vulvar intraepithelial neoplasia |
|
|
MONDO:0864125 |
infectious epithelial keratitis |
GARD:19877 |
MONDO:equivalentTo |
Infectious epithelial keratitis |
|
|
MONDO:0864126 |
neurotrophic keratopathy |
GARD:19878 |
MONDO:equivalentTo |
Neurotrophic keratopathy |
|
|
MONDO:0864127 |
herpes simplex virus stromal keratitis |
GARD:19879 |
MONDO:equivalentTo |
Herpes simplex virus stromal keratitis |
|
|
MONDO:0864128 |
corneal endotheliitis |
GARD:19880 |
MONDO:equivalentTo |
Corneal endotheliitis |
|
|
MONDO:0864129 |
segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome |
GARD:19881 |
MONDO:equivalentTo |
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome |
|
|
MONDO:0864130 |
intractable diarrhea-choanal atresia-eye anomalies syndrome |
GARD:19882 |
MONDO:equivalentTo |
Intractable diarrhea-choanal atresia-eye anomalies syndrome |
|
|
MONDO:0864131 |
cardiac anomalies-heterotaxy syndrome |
GARD:19883 |
MONDO:equivalentTo |
Cardiac anomalies-heterotaxy syndrome |
|
|
MONDO:0864132 |
cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk |
GARD:19884 |
MONDO:equivalentTo |
Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk |
|
|
MONDO:0864133 |
macular amyloidosis |
GARD:19885 |
MONDO:equivalentTo |
Macular amyloidosis |
|
|
MONDO:0864134 |
extrapelvic endometriosis |
GARD:19886 |
MONDO:equivalentTo |
Extrapelvic endometriosis |
|
|
MONDO:0864135 |
madras motor neuron disease |
GARD:19887 |
MONDO:equivalentTo |
Madras motor neuron disease |
|
|
MONDO:0864136 |
syndromic optic nerve hypoplasia |
GARD:19888 |
MONDO:equivalentTo |
Syndromic optic nerve hypoplasia |
|
|
MONDO:0864137 |
choanal atresia, unilateral |
GARD:19889 |
MONDO:equivalentTo |
Choanal atresia, unilateral |
|
|
MONDO:0864138 |
choanal atresia, bilateral |
GARD:19890 |
MONDO:equivalentTo |
Choanal atresia, bilateral |
|
|
MONDO:0864139 |
primary laryngeal lymphangioma |
GARD:19891 |
MONDO:equivalentTo |
Primary laryngeal lymphangioma |
|
|
MONDO:0864140 |
neonatal brainstem dysfunction |
GARD:19892 |
MONDO:equivalentTo |
Neonatal brainstem dysfunction |
|
|
MONDO:0864141 |
laryngotracheal angioma |
GARD:19893 |
MONDO:equivalentTo |
Laryngotracheal angioma |
|
|
MONDO:0864142 |
pierre robin syndrome associated with collagen disease |
GARD:19894 |
MONDO:equivalentTo |
Pierre Robin syndrome associated with collagen disease |
|
|
MONDO:0864143 |
rare disease with pierre robin syndrome |
GARD:19895 |
MONDO:equivalentTo |
Rare disease with Pierre Robin syndrome |
|
|
MONDO:0864144 |
pierre robin syndrome associated with a chromosomal anomaly |
GARD:19896 |
MONDO:equivalentTo |
Pierre Robin syndrome associated with a chromosomal anomaly |
|
|
MONDO:0864145 |
pierre robin syndrome associated with branchial archs anomalies |
GARD:19897 |
MONDO:equivalentTo |
Pierre Robin syndrome associated with branchial archs anomalies |
|
|
MONDO:0864146 |
pierre robin syndrome associated with bone disease |
GARD:19898 |
MONDO:equivalentTo |
Pierre Robin syndrome associated with bone disease |
|
|
MONDO:0864147 |
teratogenic pierre robin syndrome |
GARD:19899 |
MONDO:equivalentTo |
Teratogenic Pierre Robin syndrome |
|
|
MONDO:0864148 |
developmental anomaly of metabolic origin |
GARD:19900 |
MONDO:equivalentTo |
Developmental anomaly of metabolic origin |
|
|
MONDO:0864149 |
rare bone development disorder |
GARD:19901 |
MONDO:equivalentTo |
Rare bone development disorder |
|
|
MONDO:0864150 |
malformation syndrome with short stature |
GARD:19902 |
MONDO:equivalentTo |
Malformation syndrome with short stature |
|
|
MONDO:0864151 |
overgrowth/obesity syndrome |
GARD:19903 |
MONDO:equivalentTo |
Overgrowth/obesity syndrome |
|
|
MONDO:0864152 |
rare developmental defect with skin/mucosae involvement |
GARD:19904 |
MONDO:equivalentTo |
Rare developmental defect with skin/mucosae involvement |
|
|
MONDO:0864153 |
rare developmental defect with connective tissue involvement |
GARD:19905 |
MONDO:equivalentTo |
Rare developmental defect with connective tissue involvement |
|
|
MONDO:0864154 |
progeroid syndrome |
GARD:19906 |
MONDO:equivalentTo |
Progeroid syndrome |
|
|
MONDO:0864155 |
branchial arch or oral-acral syndrome |
GARD:19907 |
MONDO:equivalentTo |
Branchial arch or oral-acral syndrome |
|
|
MONDO:0864156 |
orofacial clefting syndrome |
GARD:19908 |
MONDO:equivalentTo |
Orofacial clefting syndrome |
|
|
MONDO:0864157 |
malformation syndrome with odontal and/or periodontal component |
GARD:19909 |
MONDO:equivalentTo |
Malformation syndrome with odontal and/or periodontal component |
|
|
MONDO:0864158 |
non-syndromic craniosynostosis |
GARD:19910 |
MONDO:equivalentTo |
Non-syndromic craniosynostosis |
|
|
MONDO:0864159 |
syndromic craniosynostosis |
GARD:19911 |
MONDO:equivalentTo |
Syndromic craniosynostosis |
|
|
MONDO:0864160 |
congenital panfollicular nevus |
GARD:19912 |
MONDO:equivalentTo |
Congenital panfollicular nevus |
|
|
MONDO:0864161 |
acute transverse myelitis |
GARD:19913 |
MONDO:equivalentTo |
Acute transverse myelitis |
|
|
MONDO:0864162 |
idiopathic acute transverse myelitis |
GARD:19914 |
MONDO:equivalentTo |
Idiopathic acute transverse myelitis |
|
|
MONDO:0864163 |
perioral myoclonia with absences |
GARD:19915 |
MONDO:equivalentTo |
Perioral myoclonia with absences |
|
|
MONDO:0864164 |
jeavons syndrome |
GARD:19916 |
MONDO:equivalentTo |
Jeavons syndrome |
|
|
MONDO:0864165 |
leukoencephalopathy with bilateral anterior temporal lobe cysts |
GARD:19917 |
MONDO:equivalentTo |
Leukoencephalopathy with bilateral anterior temporal lobe cysts |
|
|
MONDO:0864166 |
progressive cavitating leukoencephalopathy |
GARD:19918 |
MONDO:equivalentTo |
Progressive cavitating leukoencephalopathy |
|
|
MONDO:0864167 |
neuropathy with hearing impairment |
GARD:19919 |
MONDO:equivalentTo |
Neuropathy with hearing impairment |
|
|
MONDO:0864168 |
hereditary sensory and autonomic neuropathy with deafness and global delay |
GARD:19920 |
MONDO:equivalentTo |
Hereditary sensory and autonomic neuropathy with deafness and global delay |
|
|
MONDO:0864169 |
inherited cancer-predisposing syndrome |
GARD:19921 |
MONDO:equivalentTo |
Inherited cancer-predisposing syndrome |
|
|
MONDO:0864170 |
secondary hypoparathyroidism due to impaired parathormon secretion |
GARD:19922 |
MONDO:equivalentTo |
Secondary hypoparathyroidism due to impaired parathormon secretion |
|
|
MONDO:0864171 |
autosomal dominant hereditary demyelinating motor and sensory neuropathy |
GARD:19923 |
MONDO:equivalentTo |
Autosomal dominant hereditary demyelinating motor and sensory neuropathy |
|
|
MONDO:0864172 |
autosomal dominant hereditary axonal motor and sensory neuropathy |
GARD:19924 |
MONDO:equivalentTo |
Autosomal dominant hereditary axonal motor and sensory neuropathy |
|
|
MONDO:0864173 |
autosomal recessive hereditary demyelinating motor and sensory neuropathy |
GARD:19925 |
MONDO:equivalentTo |
Autosomal recessive hereditary demyelinating motor and sensory neuropathy |
|
|
MONDO:0864174 |
autosomal dominant distal hereditary motor neuropathy |
GARD:19926 |
MONDO:equivalentTo |
Autosomal dominant distal hereditary motor neuropathy |
|
|
MONDO:0864175 |
autosomal recessive distal hereditary motor neuropathy |
GARD:19927 |
MONDO:equivalentTo |
Autosomal recessive distal hereditary motor neuropathy |
|
|
MONDO:0864176 |
autosomal dominant hereditary sensory and autonomic neuropathy |
GARD:19928 |
MONDO:equivalentTo |
Autosomal dominant hereditary sensory and autonomic neuropathy |
|
|
MONDO:0864177 |
autosomal recessive hereditary sensory and autonomic neuropathy |
GARD:19929 |
MONDO:equivalentTo |
Autosomal recessive hereditary sensory and autonomic neuropathy |
|
|
MONDO:0864178 |
ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome |
GARD:1993 |
MONDO:equivalentTo |
Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome |
|
|
MONDO:0864179 |
neuro-ophthalmological disease |
GARD:19930 |
MONDO:equivalentTo |
Neuro-ophthalmological disease |
|
|
MONDO:0864180 |
joubert syndrome and related disorders |
GARD:19931 |
MONDO:equivalentTo |
Joubert syndrome and related disorders |
|
|
MONDO:0864181 |
linear atrophoderma of moulin |
GARD:19932 |
MONDO:equivalentTo |
Linear atrophoderma of Moulin |
|
|
MONDO:0864182 |
low-flow priapism |
GARD:19933 |
MONDO:equivalentTo |
Low-flow priapism |
|
|
MONDO:0864183 |
first branchial cleft anomaly |
GARD:19934 |
MONDO:equivalentTo |
First branchial cleft anomaly |
|
|
MONDO:0864184 |
third branchial cleft anomaly |
GARD:19935 |
MONDO:equivalentTo |
Third branchial cleft anomaly |
|
|
MONDO:0864185 |
fourth branchial cleft anomaly |
GARD:19936 |
MONDO:equivalentTo |
Fourth branchial cleft anomaly |
|
|
MONDO:0864186 |
cervical dermoid cyst |
GARD:19937 |
MONDO:equivalentTo |
Cervical dermoid cyst |
|
|
MONDO:0864187 |
facial dermoid cyst |
GARD:19938 |
MONDO:equivalentTo |
Facial dermoid cyst |
|
|
MONDO:0864188 |
commissural lip fistula |
GARD:19939 |
MONDO:equivalentTo |
Commissural lip fistula |
|
|
MONDO:0864189 |
dyschondrosteosis-nephritis syndrome |
GARD:1994 |
MONDO:equivalentTo |
Dyschondrosteosis-nephritis syndrome |
|
|
MONDO:0864190 |
lower lip fistula |
GARD:19940 |
MONDO:equivalentTo |
Lower lip fistula |
|
|
MONDO:0864191 |
cervicofacial fibrochondroma |
GARD:19941 |
MONDO:equivalentTo |
Cervicofacial fibrochondroma |
|
|
MONDO:0864192 |
digestive duplication cyst of the tongue |
GARD:19942 |
MONDO:equivalentTo |
Digestive duplication cyst of the tongue |
|
|
MONDO:0864193 |
epignathus |
GARD:19943 |
MONDO:equivalentTo |
Epignathus |
|
|
MONDO:0864194 |
nasolacrimal duct cyst |
GARD:19944 |
MONDO:equivalentTo |
Nasolacrimal duct cyst |
|
|
MONDO:0864195 |
polyrrhinia |
GARD:19945 |
MONDO:equivalentTo |
Polyrrhinia |
|
|
MONDO:0864196 |
supernumerary nostril |
GARD:19946 |
MONDO:equivalentTo |
Supernumerary nostril |
|
|
MONDO:0864197 |
proboscis lateralis |
GARD:19947 |
MONDO:equivalentTo |
Proboscis lateralis |
|
|
MONDO:0864198 |
nasopharyngeal teratoma |
GARD:19948 |
MONDO:equivalentTo |
Nasopharyngeal teratoma |
|
|
MONDO:0864199 |
nasal glial heterotopia |
GARD:19949 |
MONDO:equivalentTo |
Nasal glial heterotopia |
|
|
MONDO:0864200 |
nasal ganglioglioma |
GARD:19950 |
MONDO:equivalentTo |
Nasal ganglioglioma |
|
|
MONDO:0864201 |
nasal encephalocele |
GARD:19951 |
MONDO:equivalentTo |
Nasal encephalocele |
|
|
MONDO:0864202 |
congenital subglottic stenosis |
GARD:19952 |
MONDO:equivalentTo |
Congenital subglottic stenosis |
|
|
MONDO:0864203 |
congenital laryngeal cyst |
GARD:19953 |
MONDO:equivalentTo |
Congenital laryngeal cyst |
|
|
MONDO:0864204 |
glossopalatine ankylosis |
GARD:19954 |
MONDO:equivalentTo |
Glossopalatine ankylosis |
|
|
MONDO:0864205 |
frontonasal arteriovenous malformation |
GARD:19955 |
MONDO:equivalentTo |
Frontonasal arteriovenous malformation |
|
|
MONDO:0864206 |
maxillary arteriovenous malformation |
GARD:19956 |
MONDO:equivalentTo |
Maxillary arteriovenous malformation |
|
|
MONDO:0864207 |
mandibular arteriovenous malformation |
GARD:19957 |
MONDO:equivalentTo |
Mandibular arteriovenous malformation |
|
|
MONDO:0864208 |
rapidly involuting congenital hemangioma |
GARD:19958 |
MONDO:equivalentTo |
Rapidly involuting congenital hemangioma |
|
|
MONDO:0864209 |
cerebrofacial arteriovenous metameric syndrome type 1 |
GARD:19959 |
MONDO:equivalentTo |
Cerebrofacial arteriovenous metameric syndrome type 1 |
|
|
MONDO:0864210 |
dyschromatosis universalis hereditaria |
GARD:1996 |
MONDO:equivalentTo |
Dyschromatosis universalis hereditaria |
|
|
MONDO:0864211 |
cerebrofacial arteriovenous metameric syndrome type 3 |
GARD:19960 |
MONDO:equivalentTo |
Cerebrofacial arteriovenous metameric syndrome type 3 |
|
|
MONDO:0864212 |
diffuse lymphatic malformation |
GARD:19961 |
MONDO:equivalentTo |
Diffuse lymphatic malformation |
|
|
MONDO:0864213 |
isolated congenital syngnathia |
GARD:19962 |
MONDO:equivalentTo |
Isolated congenital syngnathia |
|
|
MONDO:0864214 |
nasal dorsum fistula |
GARD:19963 |
MONDO:equivalentTo |
Nasal dorsum fistula |
|
|
MONDO:0864215 |
facial cleft |
GARD:19964 |
MONDO:equivalentTo |
Facial cleft |
|
|
MONDO:0864216 |
median facial cleft |
GARD:19965 |
MONDO:equivalentTo |
Median facial cleft |
|
|
MONDO:0864217 |
median cleft of the upper lip and maxilla |
GARD:19966 |
MONDO:equivalentTo |
Median cleft of the upper lip and maxilla |
|
|
MONDO:0864218 |
oblique facial cleft |
GARD:19967 |
MONDO:equivalentTo |
Oblique facial cleft |
|
|
MONDO:0864219 |
tessier number 5 facial cleft |
GARD:19968 |
MONDO:equivalentTo |
Tessier number 5 facial cleft |
|
|
MONDO:0864220 |
tessier number 6 facial cleft |
GARD:19969 |
MONDO:equivalentTo |
Tessier number 6 facial cleft |
|
|
MONDO:0864221 |
lateral facial cleft |
GARD:19970 |
MONDO:equivalentTo |
Lateral facial cleft |
|
|
MONDO:0864222 |
midline cervical cleft |
GARD:19971 |
MONDO:equivalentTo |
Midline cervical cleft |
|
|
MONDO:0864223 |
rare head and neck malformation |
GARD:19972 |
MONDO:equivalentTo |
Rare head and neck malformation |
|
|
MONDO:0864224 |
cysts and fistulae of the face and oral cavity |
GARD:19973 |
MONDO:equivalentTo |
Cysts and fistulae of the face and oral cavity |
|
|
MONDO:0864225 |
pinnae fistula or cyst |
GARD:19974 |
MONDO:equivalentTo |
Pinnae fistula or cyst |
|
|
MONDO:0864226 |
paramedian facial cleft |
GARD:19975 |
MONDO:equivalentTo |
Paramedian facial cleft |
|
|
MONDO:0864227 |
submucosal cleft palate |
GARD:19976 |
MONDO:equivalentTo |
Submucosal cleft palate |
|
|
MONDO:0864228 |
coloboma of superior eyelid |
GARD:19977 |
MONDO:equivalentTo |
Coloboma of superior eyelid |
|
|
MONDO:0864229 |
coloboma of inferior eyelid |
GARD:19978 |
MONDO:equivalentTo |
Coloboma of inferior eyelid |
|
|
MONDO:0864230 |
otomandibular dysplasia |
GARD:19979 |
MONDO:equivalentTo |
Otomandibular dysplasia |
|
|
MONDO:0864231 |
dysequilibrium syndrome |
GARD:1998 |
MONDO:equivalentTo |
Dysequilibrium syndrome |
|
|
MONDO:0864232 |
mandibulofacial dysostosis |
GARD:19980 |
MONDO:equivalentTo |
Mandibulofacial dysostosis |
|
|
MONDO:0864233 |
predominantly large-vessel vasculitis |
GARD:19981 |
MONDO:equivalentTo |
Predominantly large-vessel vasculitis |
|
|
MONDO:0864234 |
predominantly medium-vessel vasculitis |
GARD:19982 |
MONDO:equivalentTo |
Predominantly medium-vessel vasculitis |
|
|
MONDO:0864235 |
predominantly small-vessel vasculitis |
GARD:19983 |
MONDO:equivalentTo |
Predominantly small-vessel vasculitis |
|
|
MONDO:0864236 |
immune complex mediated vasculitis |
GARD:19984 |
MONDO:equivalentTo |
Immune complex mediated vasculitis |
|
|
MONDO:0864237 |
isolated dystonia |
GARD:19985 |
MONDO:equivalentTo |
Isolated dystonia |
|
|
MONDO:0864238 |
renal ciliopathy |
GARD:19986 |
MONDO:equivalentTo |
Renal ciliopathy |
|
|
MONDO:0864239 |
retinal ciliopathy |
GARD:19987 |
MONDO:equivalentTo |
Retinal ciliopathy |
|
|
MONDO:0864240 |
retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene |
GARD:19988 |
MONDO:equivalentTo |
Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene |
|
|
MONDO:0864241 |
retinal ciliopathy due to mutation in the rpgr gene |
GARD:19989 |
MONDO:equivalentTo |
Retinal ciliopathy due to mutation in the RPGR gene |
|
|
MONDO:0864242 |
congenital dyserythropoietic anemia |
GARD:1999 |
MONDO:equivalentTo |
Congenital dyserythropoietic anemia |
|
|
MONDO:0864243 |
retinal ciliopathy due to mutation in the rpgrip gene |
GARD:19990 |
MONDO:equivalentTo |
Retinal ciliopathy due to mutation in the RPGRIP gene |
|
|
MONDO:0864244 |
retinal ciliopathy due to mutation in usher gene |
GARD:19991 |
MONDO:equivalentTo |
Retinal ciliopathy due to mutation in Usher gene |
|
|
MONDO:0864245 |
retinal ciliopathy due to mutation in nephronophthisis gene |
GARD:19992 |
MONDO:equivalentTo |
Retinal ciliopathy due to mutation in nephronophthisis gene |
|
|
MONDO:0864246 |
retinal ciliopathy due to mutation in bardet-biedl gene |
GARD:19993 |
MONDO:equivalentTo |
Retinal ciliopathy due to mutation in Bardet-Biedl gene |
|
|
MONDO:0864247 |
otomandibular dysplasia associated with monogenic syndromes |
GARD:19994 |
MONDO:equivalentTo |
Otomandibular dysplasia associated with monogenic syndromes |
|
|
MONDO:0864248 |
hypoglossia/aglossia |
GARD:19995 |
MONDO:equivalentTo |
Hypoglossia/aglossia |
|
|
MONDO:0864249 |
oromandibular-limb anomalies syndrome |
GARD:19996 |
MONDO:equivalentTo |
Oromandibular-limb anomalies syndrome |
|
|
MONDO:0864250 |
paralytic facial malformation |
GARD:19997 |
MONDO:equivalentTo |
Paralytic facial malformation |
|
|
MONDO:0864251 |
syndrome or malformation associated with head and neck malformations |
GARD:19998 |
MONDO:equivalentTo |
Syndrome or malformation associated with head and neck malformations |
|
|
MONDO:0864252 |
pinnae and external auditory canal anomaly |
GARD:19999 |
MONDO:equivalentTo |
Pinnae and external auditory canal anomaly |
|
|
MONDO:0864253 |
central serous chorioretinopathy |
GARD:200 |
MONDO:equivalentTo |
Central serous chorioretinopathy |
|
|
MONDO:0864254 |
congenital dyserythropoietic anemia type i |
GARD:2000 |
MONDO:equivalentTo |
Congenital dyserythropoietic anemia type I |
|
|
MONDO:0864255 |
nose and cavum anomaly |
GARD:20000 |
MONDO:equivalentTo |
Nose and cavum anomaly |
|
|
MONDO:0864256 |
larynx anomaly |
GARD:20001 |
MONDO:equivalentTo |
Larynx anomaly |
|
|
MONDO:0864257 |
tracheal anomaly |
GARD:20002 |
MONDO:equivalentTo |
Tracheal anomaly |
|
|
MONDO:0864258 |
rare syndrome with cardiac malformations |
GARD:20003 |
MONDO:equivalentTo |
Rare syndrome with cardiac malformations |
|
|
MONDO:0864259 |
rare genetic hepatic disease |
GARD:20004 |
MONDO:equivalentTo |
Rare genetic hepatic disease |
|
|
MONDO:0864260 |
genetic parenchymatous liver disease |
GARD:20005 |
MONDO:equivalentTo |
Genetic parenchymatous liver disease |
|
|
MONDO:0864261 |
genetic biliary tract disease |
GARD:20006 |
MONDO:equivalentTo |
Genetic biliary tract disease |
|
|
MONDO:0864262 |
rare genetic respiratory disease |
GARD:20007 |
MONDO:equivalentTo |
Rare genetic respiratory disease |
|
|
MONDO:0864263 |
rare genetic urogenital disease |
GARD:20008 |
MONDO:equivalentTo |
Rare genetic urogenital disease |
|
|
MONDO:0864264 |
genetic urogenital tract malformation |
GARD:20009 |
MONDO:equivalentTo |
Genetic urogenital tract malformation |
|
|
MONDO:0864265 |
congenital dyserythropoietic anemia type ii |
GARD:2001 |
MONDO:equivalentTo |
Congenital dyserythropoietic anemia type II |
|
|
MONDO:0864266 |
rare genetic cause of hypertension |
GARD:20010 |
MONDO:equivalentTo |
Rare genetic cause of hypertension |
|
|
MONDO:0864267 |
rare genetic endocrine disease |
GARD:20011 |
MONDO:equivalentTo |
Rare genetic endocrine disease |
|
|
MONDO:0864268 |
genetic endocrine growth disease |
GARD:20012 |
MONDO:equivalentTo |
Genetic endocrine growth disease |
|
|
MONDO:0864269 |
situs ambiguus |
GARD:20013 |
MONDO:equivalentTo |
Situs ambiguus |
|
|
MONDO:0864270 |
epithelioid hemangioendothelioma |
GARD:20014 |
MONDO:equivalentTo |
Epithelioid hemangioendothelioma |
|
|
MONDO:0864271 |
congenital pseudoarthrosis of the limbs |
GARD:20015 |
MONDO:equivalentTo |
Congenital pseudoarthrosis of the limbs |
|
|
MONDO:0864272 |
congenital epulis |
GARD:20016 |
MONDO:equivalentTo |
Congenital epulis |
|
|
MONDO:0864273 |
trigeminal autonomic cephalalgia |
GARD:20017 |
MONDO:equivalentTo |
Trigeminal autonomic cephalalgia |
|
|
MONDO:0864274 |
generalized eruptive histiocytosis |
GARD:20018 |
MONDO:equivalentTo |
Generalized eruptive histiocytosis |
|
|
MONDO:0864275 |
benign cephalic histiocytosis |
GARD:20019 |
MONDO:equivalentTo |
Benign cephalic histiocytosis |
|
|
MONDO:0864276 |
congenital dyserythropoietic anemia type iii |
GARD:2002 |
MONDO:equivalentTo |
Congenital dyserythropoietic anemia type III |
|
|
MONDO:0864277 |
juvenile xanthogranuloma |
GARD:20020 |
MONDO:equivalentTo |
Juvenile xanthogranuloma |
|
|
MONDO:0864278 |
papular xanthoma |
GARD:20021 |
MONDO:equivalentTo |
Papular xanthoma |
|
|
MONDO:0864279 |
indeterminate cell histiocytosis |
GARD:20022 |
MONDO:equivalentTo |
Indeterminate cell histiocytosis |
|
|
MONDO:0864280 |
progressive nodular histiocytosis |
GARD:20023 |
MONDO:equivalentTo |
Progressive nodular histiocytosis |
|
|
MONDO:0864281 |
hemophagocytic syndrome |
GARD:20024 |
MONDO:equivalentTo |
Hemophagocytic syndrome |
|
|
MONDO:0864282 |
primary hemophagocytic lymphohistiocytosis |
GARD:20025 |
MONDO:equivalentTo |
Primary hemophagocytic lymphohistiocytosis |
|
|
MONDO:0864283 |
secondary hemophagocytic lymphohistiocytosis |
GARD:20026 |
MONDO:equivalentTo |
Secondary hemophagocytic lymphohistiocytosis |
|
|
MONDO:0864284 |
acquired hemophagocytic lymphohistiocytosis associated with malignant disease |
GARD:20027 |
MONDO:equivalentTo |
Acquired hemophagocytic lymphohistiocytosis associated with malignant disease |
|
|
MONDO:0864285 |
genetic dementia |
GARD:20028 |
MONDO:equivalentTo |
Genetic dementia |
|
|
MONDO:0864286 |
huntington disease-like syndrome |
GARD:20029 |
MONDO:equivalentTo |
Huntington disease-like syndrome |
|
|
MONDO:0864287 |
qualitative or quantitative defects of dysferlin |
GARD:2003 |
MONDO:equivalentTo |
Qualitative or quantitative defects of dysferlin |
|
|
MONDO:0864288 |
rare genetic hematologic disease |
GARD:20030 |
MONDO:equivalentTo |
Rare genetic hematologic disease |
|
|
MONDO:0864289 |
localized dystrophic epidermolysis bullosa, acral form |
GARD:20031 |
MONDO:equivalentTo |
Localized dystrophic epidermolysis bullosa, acral form |
|
|
MONDO:0864290 |
localized dystrophic epidermolysis bullosa, nails only |
GARD:20032 |
MONDO:equivalentTo |
Localized dystrophic epidermolysis bullosa, nails only |
|
|
MONDO:0864291 |
typical urticaria pigmentosa |
GARD:20033 |
MONDO:equivalentTo |
Typical urticaria pigmentosa |
|
|
MONDO:0864292 |
plaque-form urticaria pigmentosa |
GARD:20034 |
MONDO:equivalentTo |
Plaque-form urticaria pigmentosa |
|
|
MONDO:0864293 |
nodular urticaria pigmentosa |
GARD:20035 |
MONDO:equivalentTo |
Nodular urticaria pigmentosa |
|
|
MONDO:0864294 |
smoldering systemic mastocytosis |
GARD:20036 |
MONDO:equivalentTo |
Smoldering systemic mastocytosis |
|
|
MONDO:0864295 |
isolated bone marrow mastocytosis |
GARD:20037 |
MONDO:equivalentTo |
Isolated bone marrow mastocytosis |
|
|
MONDO:0864296 |
cap polyposis |
GARD:20038 |
MONDO:equivalentTo |
Cap polyposis |
|
|
MONDO:0864297 |
isolated congenital nasal pyriform aperture stenosis |
GARD:20039 |
MONDO:equivalentTo |
Isolated congenital nasal pyriform aperture stenosis |
|
|
MONDO:0864298 |
familial dysfibrinogenemia |
GARD:2004 |
MONDO:equivalentTo |
Familial dysfibrinogenemia |
|
|
MONDO:0864299 |
isolated congenital auditory ossicle malformation |
GARD:20040 |
MONDO:equivalentTo |
Isolated congenital auditory ossicle malformation |
|
|
MONDO:0864300 |
non-syndromic cerebral malformation due to abnormal neuronal migration |
GARD:20041 |
MONDO:equivalentTo |
Non-syndromic cerebral malformation due to abnormal neuronal migration |
|
|
MONDO:0864301 |
subacute cutaneous lupus erythematosus |
GARD:20042 |
MONDO:equivalentTo |
Subacute cutaneous lupus erythematosus |
|
|
MONDO:0864302 |
chronic cutaneous lupus erythematosus |
GARD:20043 |
MONDO:equivalentTo |
Chronic cutaneous lupus erythematosus |
|
|
MONDO:0864303 |
rare bacterial infectious disease |
GARD:20044 |
MONDO:equivalentTo |
Rare bacterial infectious disease |
|
|
MONDO:0864304 |
rare viral disease |
GARD:20045 |
MONDO:equivalentTo |
Rare viral disease |
|
|
MONDO:0864305 |
rare parasitic disease |
GARD:20046 |
MONDO:equivalentTo |
Rare parasitic disease |
|
|
MONDO:0864306 |
rare mycosis |
GARD:20047 |
MONDO:equivalentTo |
Rare mycosis |
|
|
MONDO:0864307 |
bile acid synthesis defect with cholestasis and malabsorption |
GARD:20048 |
MONDO:equivalentTo |
Bile acid synthesis defect with cholestasis and malabsorption |
|
|
MONDO:0864308 |
rare disorder related with pregnancy, childbirth and puerperium |
GARD:20049 |
MONDO:equivalentTo |
Rare disorder related with pregnancy, childbirth and puerperium |
|
|
MONDO:0864309 |
extragonadal germinoma |
GARD:2005 |
MONDO:equivalentTo |
Extragonadal germinoma |
|
|
MONDO:0864310 |
cryptogenic late-onset epileptic spasms |
GARD:20050 |
MONDO:equivalentTo |
Cryptogenic late-onset epileptic spasms |
|
|
MONDO:0864311 |
posttransplant acute limbic encephalitis |
GARD:20051 |
MONDO:equivalentTo |
Posttransplant acute limbic encephalitis |
|
|
MONDO:0864312 |
acrodermatitis continua of hallopeau |
GARD:20052 |
MONDO:equivalentTo |
Acrodermatitis continua of Hallopeau |
|
|
MONDO:0864313 |
atopic keratoconjunctivitis |
GARD:20053 |
MONDO:equivalentTo |
Atopic keratoconjunctivitis |
|
|
MONDO:0864314 |
x-linked intellectual disability, cilliers type |
GARD:20054 |
MONDO:equivalentTo |
X-linked intellectual disability, Cilliers type |
|
|
MONDO:0864315 |
rare odontal or periodontal disorder |
GARD:20055 |
MONDO:equivalentTo |
Rare odontal or periodontal disorder |
|
|
MONDO:0864316 |
middle ear anomaly |
GARD:20056 |
MONDO:equivalentTo |
Middle ear anomaly |
|
|
MONDO:0864317 |
acute myeloid leukemia and myelodysplastic syndromes related to radiation |
GARD:20057 |
MONDO:equivalentTo |
Acute myeloid leukemia and myelodysplastic syndromes related to radiation |
|
|
MONDO:0864318 |
rare acquired aplastic anemia |
GARD:20058 |
MONDO:equivalentTo |
Rare acquired aplastic anemia |
|
|
MONDO:0864319 |
rare genetic gastroenterological disease |
GARD:20059 |
MONDO:equivalentTo |
Rare genetic gastroenterological disease |
|
|
MONDO:0864320 |
genetic intestinal disease |
GARD:20060 |
MONDO:equivalentTo |
Genetic intestinal disease |
|
|
MONDO:0864321 |
genetic gastro-esophageal disease |
GARD:20061 |
MONDO:equivalentTo |
Genetic gastro-esophageal disease |
|
|
MONDO:0864322 |
genetic pancreatic disease |
GARD:20062 |
MONDO:equivalentTo |
Genetic pancreatic disease |
|
|
MONDO:0864323 |
non-syndromic urogenital tract malformation |
GARD:20063 |
MONDO:equivalentTo |
Non-syndromic urogenital tract malformation |
|
|
MONDO:0864324 |
syndromic urogenital tract malformation |
GARD:20064 |
MONDO:equivalentTo |
Syndromic urogenital tract malformation |
|
|
MONDO:0864325 |
wound myiasis |
GARD:20065 |
MONDO:equivalentTo |
Wound myiasis |
|
|
MONDO:0864326 |
cavitary myiasis |
GARD:20066 |
MONDO:equivalentTo |
Cavitary myiasis |
|
|
MONDO:0864327 |
diazoxide-sensitive diffuse hyperinsulinism |
GARD:20067 |
MONDO:equivalentTo |
Diazoxide-sensitive diffuse hyperinsulinism |
|
|
MONDO:0864328 |
diazoxide-resistant diffuse hyperinsulinism |
GARD:20068 |
MONDO:equivalentTo |
Diazoxide-resistant diffuse hyperinsulinism |
|
|
MONDO:0864329 |
bazex syndrome |
GARD:20069 |
MONDO:equivalentTo |
Bazex syndrome |
|
|
MONDO:0864330 |
porokeratotic eccrine ostial and dermal duct nevus |
GARD:20070 |
MONDO:equivalentTo |
Porokeratotic eccrine ostial and dermal duct nevus |
|
|
MONDO:0864331 |
benign non-familial infantile seizures |
GARD:20071 |
MONDO:equivalentTo |
Benign non-familial infantile seizures |
|
|
MONDO:0864332 |
benign partial epilepsy of infancy with complex partial seizures |
GARD:20072 |
MONDO:equivalentTo |
Benign partial epilepsy of infancy with complex partial seizures |
|
|
MONDO:0864333 |
benign partial epilepsy with secondarily generalized seizures in infancy |
GARD:20073 |
MONDO:equivalentTo |
Benign partial epilepsy with secondarily generalized seizures in infancy |
|
|
MONDO:0864334 |
benign infantile seizures associated with mild gastroenteritis |
GARD:20074 |
MONDO:equivalentTo |
Benign infantile seizures associated with mild gastroenteritis |
|
|
MONDO:0864335 |
benign infantile focal epilepsy with midline spikes and waves during sleep |
GARD:20075 |
MONDO:equivalentTo |
Benign infantile focal epilepsy with midline spikes and waves during sleep |
|
|
MONDO:0864336 |
benign partial infantile seizures |
GARD:20076 |
MONDO:equivalentTo |
Benign partial infantile seizures |
|
|
MONDO:0864337 |
audiogenic seizures |
GARD:20077 |
MONDO:equivalentTo |
Audiogenic seizures |
|
|
MONDO:0864338 |
eating reflex epilepsy |
GARD:20078 |
MONDO:equivalentTo |
Eating reflex epilepsy |
|
|
MONDO:0864339 |
orgasm-induced seizures |
GARD:20079 |
MONDO:equivalentTo |
Orgasm-induced seizures |
|
|
MONDO:0864340 |
thinking seizures |
GARD:20080 |
MONDO:equivalentTo |
Thinking seizures |
|
|
MONDO:0864341 |
startle epilepsy |
GARD:20081 |
MONDO:equivalentTo |
Startle epilepsy |
|
|
MONDO:0864342 |
micturation-induced seizures |
GARD:20082 |
MONDO:equivalentTo |
Micturation-induced seizures |
|
|
MONDO:0864343 |
epilepsy syndrome |
GARD:20083 |
MONDO:equivalentTo |
Epilepsy syndrome |
|
|
MONDO:0864344 |
neurocutaneous syndrome with epilepsy |
GARD:20084 |
MONDO:equivalentTo |
Neurocutaneous syndrome with epilepsy |
|
|
MONDO:0864345 |
chromosomal anomaly with epilepsy as a major feature |
GARD:20085 |
MONDO:equivalentTo |
Chromosomal anomaly with epilepsy as a major feature |
|
|
MONDO:0864346 |
monogenic disease with epilepsy |
GARD:20086 |
MONDO:equivalentTo |
Monogenic disease with epilepsy |
|
|
MONDO:0864347 |
idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes |
GARD:20087 |
MONDO:equivalentTo |
Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes |
|
|
MONDO:0864348 |
cerebral malformation with epilepsy |
GARD:20088 |
MONDO:equivalentTo |
Cerebral malformation with epilepsy |
|
|
MONDO:0864349 |
metabolic diseases with epilepsy |
GARD:20089 |
MONDO:equivalentTo |
Metabolic diseases with epilepsy |
|
|
MONDO:0864350 |
dysmorphism-cleft palate-loose skin syndrome |
GARD:2009 |
MONDO:equivalentTo |
Dysmorphism-cleft palate-loose skin syndrome |
|
|
MONDO:0864351 |
inflammatory and autoimmune disease with epilepsy |
GARD:20090 |
MONDO:equivalentTo |
Inflammatory and autoimmune disease with epilepsy |
|
|
MONDO:0864352 |
cerebral diseases of vascular origin with epilepsy |
GARD:20091 |
MONDO:equivalentTo |
Cerebral diseases of vascular origin with epilepsy |
|
|
MONDO:0864353 |
infectious disease with epilepsy |
GARD:20092 |
MONDO:equivalentTo |
Infectious disease with epilepsy |
|
|
MONDO:0864354 |
rare hemorrhagic disorder due to an acquired coagulation factor defect |
GARD:20093 |
MONDO:equivalentTo |
Rare hemorrhagic disorder due to an acquired coagulation factor defect |
|
|
MONDO:0864355 |
hereditary dentin defect |
GARD:20094 |
MONDO:equivalentTo |
Hereditary dentin defect |
|
|
MONDO:0864356 |
rare disease with dentinogenesis imperfecta |
GARD:20095 |
MONDO:equivalentTo |
Rare disease with dentinogenesis imperfecta |
|
|
MONDO:0864357 |
rare cardiomyopathy |
GARD:20096 |
MONDO:equivalentTo |
Rare cardiomyopathy |
|
|
MONDO:0864358 |
rare cardiac tumor |
GARD:20097 |
MONDO:equivalentTo |
Rare cardiac tumor |
|
|
MONDO:0864359 |
dysplasia of head of femur, meyer type |
GARD:20098 |
MONDO:equivalentTo |
Dysplasia of head of femur, Meyer type |
|
|
MONDO:0864360 |
rare pervasive developmental disorder |
GARD:20099 |
MONDO:equivalentTo |
Rare pervasive developmental disorder |
|
|
MONDO:0864361 |
ascher syndrome |
GARD:201 |
MONDO:equivalentTo |
Ascher syndrome |
|
|
MONDO:0864362 |
primary peritoneal tumor |
GARD:20100 |
MONDO:equivalentTo |
Primary peritoneal tumor |
|
|
MONDO:0864363 |
primary malignant peritoneal tumor |
GARD:20101 |
MONDO:equivalentTo |
Primary malignant peritoneal tumor |
|
|
MONDO:0864364 |
malignant peritoneal mesothelioma |
GARD:20102 |
MONDO:equivalentTo |
Malignant peritoneal mesothelioma |
|
|
MONDO:0864365 |
primary peritoneal carcinoma |
GARD:20103 |
MONDO:equivalentTo |
Primary peritoneal carcinoma |
|
|
MONDO:0864366 |
chronic eosinophilic leukemia |
GARD:20104 |
MONDO:equivalentTo |
Chronic eosinophilic leukemia |
|
|
MONDO:0864367 |
myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of pdgfra, pdgfrb, fgfr1 or jak2 |
GARD:20105 |
MONDO:equivalentTo |
Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 |
|
|
MONDO:0864368 |
myeloid/lymphoid neoplasm associated with pdgfra rearrangement |
GARD:20106 |
MONDO:equivalentTo |
Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement |
|
|
MONDO:0864369 |
myeloid/lymphoid neoplasm associated with pdgfrb rearrangement |
GARD:20107 |
MONDO:equivalentTo |
Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement |
|
|
MONDO:0864370 |
refractory anemia with excess blasts in transformation |
GARD:20108 |
MONDO:equivalentTo |
Refractory anemia with excess blasts in transformation |
|
|
MONDO:0864371 |
composite lymphoma |
GARD:20109 |
MONDO:equivalentTo |
Composite lymphoma |
|
|
MONDO:0864372 |
malignant melanoma of the mucosa |
GARD:20110 |
MONDO:equivalentTo |
Malignant melanoma of the mucosa |
|
|
MONDO:0864373 |
immunoglobulin heavy chain deficiency |
GARD:20111 |
MONDO:equivalentTo |
Immunoglobulin heavy chain deficiency |
|
|
MONDO:0864374 |
transient hypogammaglobulinemia of infancy |
GARD:20112 |
MONDO:equivalentTo |
Transient hypogammaglobulinemia of infancy |
|
|
MONDO:0864375 |
familial scaphocephaly syndrome |
GARD:20113 |
MONDO:equivalentTo |
Familial scaphocephaly syndrome |
|
|
MONDO:0864376 |
dna repair defect other than combined t-cell and b-cell immunodeficiencies |
GARD:20114 |
MONDO:equivalentTo |
DNA repair defect other than combined T-cell and B-cell immunodeficiencies |
|
|
MONDO:0864377 |
immuno-osseous dysplasia |
GARD:20115 |
MONDO:equivalentTo |
Immuno-osseous dysplasia |
|
|
MONDO:0864378 |
immunodeficiency syndrome with autoimmunity |
GARD:20116 |
MONDO:equivalentTo |
Immunodeficiency syndrome with autoimmunity |
|
|
MONDO:0864379 |
immune dysregulation disease with immunodeficiency |
GARD:20117 |
MONDO:equivalentTo |
Immune dysregulation disease with immunodeficiency |
|
|
MONDO:0864380 |
specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of b cells |
GARD:20118 |
MONDO:equivalentTo |
Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells |
|
|
MONDO:0864381 |
idiopathic central precocious puberty |
GARD:20119 |
MONDO:equivalentTo |
Idiopathic central precocious puberty |
|
|
MONDO:0864382 |
dysosteosclerosis |
GARD:2012 |
MONDO:equivalentTo |
Dysosteosclerosis |
|
|
MONDO:0864383 |
secondary central precocious puberty |
GARD:20120 |
MONDO:equivalentTo |
Secondary central precocious puberty |
|
|
MONDO:0864384 |
congenital vitamin k-dependent coagulation factors deficiency |
GARD:20121 |
MONDO:equivalentTo |
Congenital vitamin K-dependent coagulation factors deficiency |
|
|
MONDO:0864385 |
rectal duplication |
GARD:20122 |
MONDO:equivalentTo |
Rectal duplication |
|
|
MONDO:0864386 |
limbal stem cell deficiency |
GARD:20123 |
MONDO:equivalentTo |
Limbal stem cell deficiency |
|
|
MONDO:0864387 |
idiopathic bilateral vestibulopathy |
GARD:20124 |
MONDO:equivalentTo |
Idiopathic bilateral vestibulopathy |
|
|
MONDO:0864388 |
microcephaly-polymicrogyria-corpus callosum agenesis syndrome |
GARD:20125 |
MONDO:equivalentTo |
Microcephaly-polymicrogyria-corpus callosum agenesis syndrome |
|
|
MONDO:0864389 |
6q16 microdeletion syndrome |
GARD:20126 |
MONDO:equivalentTo |
6q16 microdeletion syndrome |
|
|
MONDO:0864390 |
craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome |
GARD:20127 |
MONDO:equivalentTo |
Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome |
|
|
MONDO:0864391 |
intellectual disability-cataracts-kyphosis syndrome |
GARD:20128 |
MONDO:equivalentTo |
Intellectual disability-cataracts-kyphosis syndrome |
|
|
MONDO:0864392 |
myopathy with hexagonally cross-linked tubular arrays |
GARD:20129 |
MONDO:equivalentTo |
Myopathy with hexagonally cross-linked tubular arrays |
|
|
MONDO:0864393 |
myeloid hemopathy |
GARD:20130 |
MONDO:equivalentTo |
Myeloid hemopathy |
|
|
MONDO:0864394 |
lymphoid hemopathy |
GARD:20131 |
MONDO:equivalentTo |
Lymphoid hemopathy |
|
|
MONDO:0864395 |
b-cell non-hodgkin lymphoma |
GARD:20132 |
MONDO:equivalentTo |
B-cell non-Hodgkin lymphoma |
|
|
MONDO:0864396 |
t-cell non-hodgkin lymphoma |
GARD:20133 |
MONDO:equivalentTo |
T-cell non-Hodgkin lymphoma |
|
|
MONDO:0864397 |
congenital myopathy with cores |
GARD:20134 |
MONDO:equivalentTo |
Congenital myopathy with cores |
|
|
MONDO:0864398 |
congenital hypogonadotropic hypogonadism |
GARD:20135 |
MONDO:equivalentTo |
Congenital hypogonadotropic hypogonadism |
|
|
MONDO:0864399 |
rare adult hypothyroidism |
GARD:20136 |
MONDO:equivalentTo |
Rare adult hypothyroidism |
|
|
MONDO:0864400 |
syndromic hypothyroidism |
GARD:20137 |
MONDO:equivalentTo |
Syndromic hypothyroidism |
|
|
MONDO:0864401 |
prader-willi syndrome due to paternal deletion of 15q11q13 type 1 |
GARD:20138 |
MONDO:equivalentTo |
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 |
|
|
MONDO:0864402 |
prader-willi syndrome due to paternal deletion of 15q11q13 type 2 |
GARD:20139 |
MONDO:equivalentTo |
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 |
|
|
MONDO:0864403 |
non-acquired combined pituitary hormone deficiencies without extrapituitary malformations |
GARD:20140 |
MONDO:equivalentTo |
Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations |
|
|
MONDO:0864404 |
rare peripheral precocious puberty |
GARD:20141 |
MONDO:equivalentTo |
Rare peripheral precocious puberty |
|
|
MONDO:0864405 |
transient congenital hypothyroidism |
GARD:20142 |
MONDO:equivalentTo |
Transient congenital hypothyroidism |
|
|
MONDO:0864406 |
antenatal multiminicore disease with arthrogryposis multiplex congenita |
GARD:20143 |
MONDO:equivalentTo |
Antenatal multiminicore disease with arthrogryposis multiplex congenita |
|
|
MONDO:0864407 |
isolated sternocostoclavicular hyperostosis |
GARD:20144 |
MONDO:equivalentTo |
Isolated sternocostoclavicular hyperostosis |
|
|
MONDO:0864408 |
undifferentiated embryonal sarcoma of the liver |
GARD:20145 |
MONDO:equivalentTo |
Undifferentiated embryonal sarcoma of the liver |
|
|
MONDO:0864409 |
acute lung injury |
GARD:20146 |
MONDO:equivalentTo |
Acute lung injury |
|
|
MONDO:0864410 |
osteosclerosis-developmental delay-craniosynostosis syndrome |
GARD:20147 |
MONDO:equivalentTo |
Osteosclerosis-developmental delay-craniosynostosis syndrome |
|
|
MONDO:0864411 |
hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation |
GARD:20148 |
MONDO:equivalentTo |
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation |
|
|
MONDO:0864412 |
wound botulism |
GARD:20149 |
MONDO:equivalentTo |
Wound botulism |
|
|
MONDO:0864413 |
peripheral dysostosis |
GARD:2015 |
MONDO:equivalentTo |
Peripheral dysostosis |
|
|
MONDO:0864414 |
infant botulism |
GARD:20150 |
MONDO:equivalentTo |
Infant botulism |
|
|
MONDO:0864415 |
intestinal botulism |
GARD:20151 |
MONDO:equivalentTo |
Intestinal botulism |
|
|
MONDO:0864416 |
adult intestinal botulism |
GARD:20152 |
MONDO:equivalentTo |
Adult intestinal botulism |
|
|
MONDO:0864417 |
myopic macular degeneration |
GARD:20153 |
MONDO:equivalentTo |
Myopic macular degeneration |
|
|
MONDO:0864418 |
folliculotropic mycosis fungoides |
GARD:20154 |
MONDO:equivalentTo |
Folliculotropic mycosis fungoides |
|
|
MONDO:0864419 |
localized pagetoid reticulosis |
GARD:20155 |
MONDO:equivalentTo |
Localized pagetoid reticulosis |
|
|
MONDO:0864420 |
primary cutaneous cd4+ small/medium-sized pleomorphic t-cell lymphoma |
GARD:20156 |
MONDO:equivalentTo |
Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma |
|
|
MONDO:0864421 |
primary cutaneous aggressive epidermotropic cd8+ t-cell lymphoma |
GARD:20157 |
MONDO:equivalentTo |
Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma |
|
|
MONDO:0864422 |
primary cutaneous gamma/delta-positive t-cell lymphoma |
GARD:20158 |
MONDO:equivalentTo |
Primary cutaneous gamma/delta-positive T-cell lymphoma |
|
|
MONDO:0864423 |
primary cutaneous marginal zone b-cell lymphoma |
GARD:20159 |
MONDO:equivalentTo |
Primary cutaneous marginal zone B-cell lymphoma |
|
|
MONDO:0864424 |
dysostosis, stanescu type |
GARD:2016 |
MONDO:equivalentTo |
Dysostosis, Stanescu type |
|
|
MONDO:0864425 |
primary cutaneous diffuse large b-cell lymphoma, leg type |
GARD:20160 |
MONDO:equivalentTo |
Primary cutaneous diffuse large B-cell lymphoma, leg type |
|
|
MONDO:0864426 |
indolent primary cutaneous t-cell lymphoma |
GARD:20161 |
MONDO:equivalentTo |
Indolent primary cutaneous T-cell lymphoma |
|
|
MONDO:0864427 |
aggressive primary cutaneous t-cell lymphoma |
GARD:20162 |
MONDO:equivalentTo |
Aggressive primary cutaneous T-cell lymphoma |
|
|
MONDO:0864428 |
aggressive primary cutaneous b-cell lymphoma |
GARD:20163 |
MONDO:equivalentTo |
Aggressive primary cutaneous B-cell lymphoma |
|
|
MONDO:0864429 |
indolent primary cutaneous b-cell lymphoma |
GARD:20164 |
MONDO:equivalentTo |
Indolent primary cutaneous B-cell lymphoma |
|
|
MONDO:0864430 |
primary cutaneous b-cell lymphoma |
GARD:20165 |
MONDO:equivalentTo |
Primary cutaneous B-cell lymphoma |
|
|
MONDO:0864431 |
mycosis fungoides and variants |
GARD:20166 |
MONDO:equivalentTo |
Mycosis fungoides and variants |
|
|
MONDO:0864432 |
acquired neutropenia |
GARD:20167 |
MONDO:equivalentTo |
Acquired neutropenia |
|
|
MONDO:0864433 |
primary immunodeficiency due to a defect in adaptive immunity |
GARD:20168 |
MONDO:equivalentTo |
Primary immunodeficiency due to a defect in adaptive immunity |
|
|
MONDO:0864434 |
obesity due to congenital leptin resistance |
GARD:20169 |
MONDO:equivalentTo |
Obesity due to congenital leptin resistance |
|
|
MONDO:0864435 |
uterovaginal malformation |
GARD:20170 |
MONDO:equivalentTo |
Uterovaginal malformation |
|
|
MONDO:0864436 |
non-syndromic uterovaginal malformation |
GARD:20171 |
MONDO:equivalentTo |
Non-syndromic uterovaginal malformation |
|
|
MONDO:0864437 |
partial bilateral aplasia of the müllerian ducts |
GARD:20172 |
MONDO:equivalentTo |
Partial bilateral aplasia of the Müllerian ducts |
|
|
MONDO:0864438 |
unilateral aplasia of the müllerian ducts |
GARD:20173 |
MONDO:equivalentTo |
Unilateral aplasia of the Müllerian ducts |
|
|
MONDO:0864439 |
true unicornuate uterus |
GARD:20174 |
MONDO:equivalentTo |
True unicornuate uterus |
|
|
MONDO:0864440 |
pseudounicornuate uterus |
GARD:20175 |
MONDO:equivalentTo |
Pseudounicornuate uterus |
|
|
MONDO:0864441 |
didelphys uterus |
GARD:20176 |
MONDO:equivalentTo |
Didelphys uterus |
|
|
MONDO:0864442 |
bicervical bicornuate uterus and blind hemivagina |
GARD:20177 |
MONDO:equivalentTo |
Bicervical bicornuate uterus and blind hemivagina |
|
|
MONDO:0864443 |
bicervical bicornuate uterus with patent cervix and vagina |
GARD:20178 |
MONDO:equivalentTo |
Bicervical bicornuate uterus with patent cervix and vagina |
|
|
MONDO:0864444 |
unicervical bicornuate uterus |
GARD:20179 |
MONDO:equivalentTo |
Unicervical bicornuate uterus |
|
|
MONDO:0864445 |
septate uterus |
GARD:20180 |
MONDO:equivalentTo |
Septate uterus |
|
|
MONDO:0864446 |
complete septate uterus |
GARD:20181 |
MONDO:equivalentTo |
Complete septate uterus |
|
|
MONDO:0864447 |
partial septate uterus |
GARD:20182 |
MONDO:equivalentTo |
Partial septate uterus |
|
|
MONDO:0864448 |
bicornuate uterus |
GARD:20183 |
MONDO:equivalentTo |
Bicornuate uterus |
|
|
MONDO:0864449 |
uterine hypoplasia |
GARD:20184 |
MONDO:equivalentTo |
Uterine hypoplasia |
|
|
MONDO:0864450 |
absence of uterine body |
GARD:20185 |
MONDO:equivalentTo |
Absence of uterine body |
|
|
MONDO:0864451 |
uterine cervical aplasia and agenesis |
GARD:20186 |
MONDO:equivalentTo |
Uterine cervical aplasia and agenesis |
|
|
MONDO:0864452 |
syndromic uterovaginal malformation |
GARD:20187 |
MONDO:equivalentTo |
Syndromic uterovaginal malformation |
|
|
MONDO:0864453 |
rare vaginal malformation |
GARD:20188 |
MONDO:equivalentTo |
Rare vaginal malformation |
|
|
MONDO:0864454 |
septate vagina |
GARD:20189 |
MONDO:equivalentTo |
Septate vagina |
|
|
MONDO:0864455 |
dysplasia epiphysealis hemimelica |
GARD:2019 |
MONDO:equivalentTo |
Dysplasia epiphysealis hemimelica |
|
|
MONDO:0864456 |
longitudinal vaginal septum |
GARD:20190 |
MONDO:equivalentTo |
Longitudinal vaginal septum |
|
|
MONDO:0864457 |
transverse vaginal septum |
GARD:20191 |
MONDO:equivalentTo |
Transverse vaginal septum |
|
|
MONDO:0864458 |
rare breast malformation |
GARD:20192 |
MONDO:equivalentTo |
Rare breast malformation |
|
|
MONDO:0864459 |
excess breast volume or number |
GARD:20193 |
MONDO:equivalentTo |
Excess breast volume or number |
|
|
MONDO:0864460 |
deficient breast volume or number |
GARD:20194 |
MONDO:equivalentTo |
Deficient breast volume or number |
|
|
MONDO:0864461 |
supernumerary breasts |
GARD:20195 |
MONDO:equivalentTo |
Supernumerary breasts |
|
|
MONDO:0864462 |
syndromic breast hypoplasia/aplasia |
GARD:20196 |
MONDO:equivalentTo |
Syndromic breast hypoplasia/aplasia |
|
|
MONDO:0864463 |
rare non-malformative gynecologic or obstetric disease |
GARD:20197 |
MONDO:equivalentTo |
Rare non-malformative gynecologic or obstetric disease |
|
|
MONDO:0864464 |
rare non-malformative breast disease |
GARD:20198 |
MONDO:equivalentTo |
Rare non-malformative breast disease |
|
|
MONDO:0864465 |
rare non-malformative uterovaginal or vulvovaginal disease |
GARD:20199 |
MONDO:equivalentTo |
Rare non-malformative uterovaginal or vulvovaginal disease |
|
|
MONDO:0864466 |
anomaly of puberty or/and menstrual cycle |
GARD:20200 |
MONDO:equivalentTo |
Anomaly of puberty or/and menstrual cycle |
|
|
MONDO:0864467 |
rare uterine adnexal tumor |
GARD:20201 |
MONDO:equivalentTo |
Rare uterine adnexal tumor |
|
|
MONDO:0864468 |
mixed germ cell tumor |
GARD:20202 |
MONDO:equivalentTo |
Mixed germ cell tumor |
|
|
MONDO:0864469 |
benign tumor of fallopian tubes |
GARD:20203 |
MONDO:equivalentTo |
Benign tumor of fallopian tubes |
|
|
MONDO:0864470 |
malignant tumor of fallopian tubes |
GARD:20204 |
MONDO:equivalentTo |
Malignant tumor of fallopian tubes |
|
|
MONDO:0864471 |
rare breast tumor |
GARD:20205 |
MONDO:equivalentTo |
Rare breast tumor |
|
|
MONDO:0864472 |
giant adenofibroma of the breast |
GARD:20206 |
MONDO:equivalentTo |
Giant adenofibroma of the breast |
|
|
MONDO:0864473 |
rare non-malformative uterine adnexal disease |
GARD:20207 |
MONDO:equivalentTo |
Rare non-malformative uterine adnexal disease |
|
|
MONDO:0864474 |
rare vulvovaginal tumor |
GARD:20208 |
MONDO:equivalentTo |
Rare vulvovaginal tumor |
|
|
MONDO:0864475 |
malformative syndrome with dentinogenesis imperfecta |
GARD:20209 |
MONDO:equivalentTo |
Malformative syndrome with dentinogenesis imperfecta |
|
|
MONDO:0864476 |
non-syndromic diaphragmatic or thoracic malformation |
GARD:20211 |
MONDO:equivalentTo |
Non-syndromic diaphragmatic or thoracic malformation |
|
|
MONDO:0864477 |
syndromic diaphragmatic or thoracic malformation |
GARD:20212 |
MONDO:equivalentTo |
Syndromic diaphragmatic or thoracic malformation |
|
|
MONDO:0864478 |
rare gastroesophageal tumor |
GARD:20213 |
MONDO:equivalentTo |
Rare gastroesophageal tumor |
|
|
MONDO:0864479 |
rare insulin-resistance syndrome |
GARD:20214 |
MONDO:equivalentTo |
Rare insulin-resistance syndrome |
|
|
MONDO:0864480 |
rare diabetes mellitus type 1 |
GARD:20215 |
MONDO:equivalentTo |
Rare diabetes mellitus type 1 |
|
|
MONDO:0864481 |
rare diabetes mellitus type 2 |
GARD:20216 |
MONDO:equivalentTo |
Rare diabetes mellitus type 2 |
|
|
MONDO:0864482 |
other rare diabetes mellitus |
GARD:20217 |
MONDO:equivalentTo |
Other rare diabetes mellitus |
|
|
MONDO:0864483 |
rare hypothalamic or pituitary disease |
GARD:20218 |
MONDO:equivalentTo |
Rare hypothalamic or pituitary disease |
|
|
MONDO:0864484 |
rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism |
GARD:20219 |
MONDO:equivalentTo |
Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism |
|
|
MONDO:0864485 |
dysplastic cortical hyperostosis |
GARD:2022 |
MONDO:equivalentTo |
Dysplastic cortical hyperostosis |
|
|
MONDO:0864486 |
endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature |
GARD:20220 |
MONDO:equivalentTo |
Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature |
|
|
MONDO:0864487 |
rare hypothyroidism |
GARD:20221 |
MONDO:equivalentTo |
Rare hypothyroidism |
|
|
MONDO:0864488 |
rare hyperthyroidism |
GARD:20222 |
MONDO:equivalentTo |
Rare hyperthyroidism |
|
|
MONDO:0864489 |
syndrome with hypoparathyroidism |
GARD:20223 |
MONDO:equivalentTo |
Syndrome with hypoparathyroidism |
|
|
MONDO:0864490 |
rare hypoparathyroidism |
GARD:20224 |
MONDO:equivalentTo |
Rare hypoparathyroidism |
|
|
MONDO:0864491 |
rare hyperparathyroidism |
GARD:20225 |
MONDO:equivalentTo |
Rare hyperparathyroidism |
|
|
MONDO:0864492 |
adrenogenital syndrome |
GARD:20226 |
MONDO:equivalentTo |
Adrenogenital syndrome |
|
|
MONDO:0864493 |
rare primary hyperaldosteronism |
GARD:20227 |
MONDO:equivalentTo |
Rare primary hyperaldosteronism |
|
|
MONDO:0864494 |
rare hypoaldosteronism |
GARD:20228 |
MONDO:equivalentTo |
Rare hypoaldosteronism |
|
|
MONDO:0864495 |
rare hyperlipidemia |
GARD:20229 |
MONDO:equivalentTo |
Rare hyperlipidemia |
|
|
MONDO:0864496 |
hyperalphalipoproteinemia |
GARD:20230 |
MONDO:equivalentTo |
Hyperalphalipoproteinemia |
|
|
MONDO:0864497 |
rare hypolipidemia |
GARD:20231 |
MONDO:equivalentTo |
Rare hypolipidemia |
|
|
MONDO:0864498 |
rare syndromic dyslipidemia |
GARD:20232 |
MONDO:equivalentTo |
Rare syndromic dyslipidemia |
|
|
MONDO:0864499 |
rare disorder with hypergonadotropic hypogonadism |
GARD:20233 |
MONDO:equivalentTo |
Rare disorder with hypergonadotropic hypogonadism |
|
|
MONDO:0864500 |
aplastic anemia |
GARD:20234 |
MONDO:equivalentTo |
Aplastic anemia |
|
|
MONDO:0864501 |
rare constitutional hemolytic anemia |
GARD:20235 |
MONDO:equivalentTo |
Rare constitutional hemolytic anemia |
|
|
MONDO:0864502 |
rare acquired hemolytic anemia |
GARD:20236 |
MONDO:equivalentTo |
Rare acquired hemolytic anemia |
|
|
MONDO:0864503 |
rare thrombotic disease of hematologic origin |
GARD:20237 |
MONDO:equivalentTo |
Rare thrombotic disease of hematologic origin |
|
|
MONDO:0864504 |
cerebellar malformation |
GARD:20238 |
MONDO:equivalentTo |
Cerebellar malformation |
|
|
MONDO:0864505 |
rare neuroinflammatory or neuroimmunological disease |
GARD:20239 |
MONDO:equivalentTo |
Rare neuroinflammatory or neuroimmunological disease |
|
|
MONDO:0864506 |
rare neurodegenerative disease |
GARD:20240 |
MONDO:equivalentTo |
Rare neurodegenerative disease |
|
|
MONDO:0864507 |
arx-related epileptic encephalopathy |
GARD:20241 |
MONDO:equivalentTo |
ARX-related epileptic encephalopathy |
|
|
MONDO:0864508 |
channelopathy with epilepsy |
GARD:20242 |
MONDO:equivalentTo |
Channelopathy with epilepsy |
|
|
MONDO:0864509 |
acquired peripheral neuropathy |
GARD:20243 |
MONDO:equivalentTo |
Acquired peripheral neuropathy |
|
|
MONDO:0864510 |
interstitial lung disease |
GARD:20244 |
MONDO:equivalentTo |
Interstitial lung disease |
|
|
MONDO:0864511 |
pneumoconiosis |
GARD:20245 |
MONDO:equivalentTo |
Pneumoconiosis |
|
|
MONDO:0864512 |
idiopathic eosinophilic pneumonia |
GARD:20246 |
MONDO:equivalentTo |
Idiopathic eosinophilic pneumonia |
|
|
MONDO:0864513 |
secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease |
GARD:20247 |
MONDO:equivalentTo |
Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease |
|
|
MONDO:0864514 |
thoracic malformation |
GARD:20248 |
MONDO:equivalentTo |
Thoracic malformation |
|
|
MONDO:0864515 |
respiratory malformation |
GARD:20249 |
MONDO:equivalentTo |
Respiratory malformation |
|
|
MONDO:0864516 |
rare urogenital tumor |
GARD:20250 |
MONDO:equivalentTo |
Rare urogenital tumor |
|
|
MONDO:0864517 |
non-syndromic urogenital tract malformation of female |
GARD:20251 |
MONDO:equivalentTo |
Non-syndromic urogenital tract malformation of female |
|
|
MONDO:0864518 |
non-syndromic urogenital tract malformation of male |
GARD:20252 |
MONDO:equivalentTo |
Non-syndromic urogenital tract malformation of male |
|
|
MONDO:0864519 |
non-syndromic urogenital tract malformation of male and female |
GARD:20253 |
MONDO:equivalentTo |
Non-syndromic urogenital tract malformation of male and female |
|
|
MONDO:0864520 |
tumor of endocrine glands |
GARD:20254 |
MONDO:equivalentTo |
Tumor of endocrine glands |
|
|
MONDO:0864521 |
rare systemic disease |
GARD:20255 |
MONDO:equivalentTo |
Rare systemic disease |
|
|
MONDO:0864522 |
systemic autoimmune disease |
GARD:20256 |
MONDO:equivalentTo |
Systemic autoimmune disease |
|
|
MONDO:0864523 |
rare rheumatologic disease |
GARD:20257 |
MONDO:equivalentTo |
Rare rheumatologic disease |
|
|
MONDO:0864524 |
genetic urticaria |
GARD:20258 |
MONDO:equivalentTo |
Genetic urticaria |
|
|
MONDO:0864525 |
polymalformative genetic syndrome with increased risk of developing cancer |
GARD:20259 |
MONDO:equivalentTo |
Polymalformative genetic syndrome with increased risk of developing cancer |
|
|
MONDO:0864526 |
dyssegmental dysplasia, silverman-handmaker type |
GARD:2026 |
MONDO:equivalentTo |
Dyssegmental dysplasia, Silverman-Handmaker type |
|
|
MONDO:0864527 |
genetic epidermal disorder |
GARD:20260 |
MONDO:equivalentTo |
Genetic epidermal disorder |
|
|
MONDO:0864528 |
inherited ichthyosis |
GARD:20261 |
MONDO:equivalentTo |
Inherited ichthyosis |
|
|
MONDO:0864529 |
genetic erythrokeratoderma |
GARD:20262 |
MONDO:equivalentTo |
Genetic erythrokeratoderma |
|
|
MONDO:0864530 |
genetic acrokeratoderma |
GARD:20263 |
MONDO:equivalentTo |
Genetic acrokeratoderma |
|
|
MONDO:0864531 |
genetic porokeratosis |
GARD:20264 |
MONDO:equivalentTo |
Genetic porokeratosis |
|
|
MONDO:0864532 |
genetic epidermal appendage anomaly |
GARD:20265 |
MONDO:equivalentTo |
Genetic epidermal appendage anomaly |
|
|
MONDO:0864533 |
genetic hair anomaly |
GARD:20266 |
MONDO:equivalentTo |
Genetic hair anomaly |
|
|
MONDO:0864534 |
genetic nail anomaly |
GARD:20267 |
MONDO:equivalentTo |
Genetic nail anomaly |
|
|
MONDO:0864535 |
genetic sebaceous gland anomaly |
GARD:20268 |
MONDO:equivalentTo |
Genetic sebaceous gland anomaly |
|
|
MONDO:0864536 |
genetic pigmentation anomaly of the skin |
GARD:20269 |
MONDO:equivalentTo |
Genetic pigmentation anomaly of the skin |
|
|
MONDO:0864537 |
early-onset generalized limb-onset dystonia |
GARD:2027 |
MONDO:equivalentTo |
Early-onset generalized limb-onset dystonia |
|
|
MONDO:0864538 |
genetic hyperpigmentation of the skin |
GARD:20270 |
MONDO:equivalentTo |
Genetic hyperpigmentation of the skin |
|
|
MONDO:0864539 |
genetic hypopigmentation of the skin |
GARD:20271 |
MONDO:equivalentTo |
Genetic hypopigmentation of the skin |
|
|
MONDO:0864540 |
genetic dermis disorder |
GARD:20272 |
MONDO:equivalentTo |
Genetic dermis disorder |
|
|
MONDO:0864541 |
genetic skin vascular disorder |
GARD:20273 |
MONDO:equivalentTo |
Genetic skin vascular disorder |
|
|
MONDO:0864542 |
genetic mixed dermis disorder |
GARD:20274 |
MONDO:equivalentTo |
Genetic mixed dermis disorder |
|
|
MONDO:0864543 |
genetic subcutaneous tissue disorder |
GARD:20275 |
MONDO:equivalentTo |
Genetic subcutaneous tissue disorder |
|
|
MONDO:0864544 |
genetic skin tumor or hamartoma |
GARD:20276 |
MONDO:equivalentTo |
Genetic skin tumor or hamartoma |
|
|
MONDO:0864545 |
genetic photodermatosis |
GARD:20277 |
MONDO:equivalentTo |
Genetic photodermatosis |
|
|
MONDO:0864546 |
genetic immune deficiency with skin involvement |
GARD:20278 |
MONDO:equivalentTo |
Genetic immune deficiency with skin involvement |
|
|
MONDO:0864547 |
genetic neuromuscular disease |
GARD:20279 |
MONDO:equivalentTo |
Genetic neuromuscular disease |
|
|
MONDO:0864548 |
primary dystonia, dyt2 type |
GARD:2028 |
MONDO:equivalentTo |
Primary dystonia, DYT2 type |
|
|
MONDO:0864549 |
genetic neurodegenerative disease |
GARD:20280 |
MONDO:equivalentTo |
Genetic neurodegenerative disease |
|
|
MONDO:0864550 |
genetic central nervous system and retinal vascular disease |
GARD:20281 |
MONDO:equivalentTo |
Genetic central nervous system and retinal vascular disease |
|
|
MONDO:0864551 |
genetic central nervous system malformation |
GARD:20282 |
MONDO:equivalentTo |
Genetic central nervous system malformation |
|
|
MONDO:0864552 |
rare genetic headache |
GARD:20283 |
MONDO:equivalentTo |
Rare genetic headache |
|
|
MONDO:0864553 |
rare genetic epilepsy |
GARD:20284 |
MONDO:equivalentTo |
Rare genetic epilepsy |
|
|
MONDO:0864554 |
rare genetic medullar disease |
GARD:20285 |
MONDO:equivalentTo |
Rare genetic medullar disease |
|
|
MONDO:0864555 |
rare hereditary ataxia |
GARD:20286 |
MONDO:equivalentTo |
Rare hereditary ataxia |
|
|
MONDO:0864556 |
rare genetic movement disorder |
GARD:20287 |
MONDO:equivalentTo |
Rare genetic movement disorder |
|
|
MONDO:0864557 |
rare genetic bone disease |
GARD:20288 |
MONDO:equivalentTo |
Rare genetic bone disease |
|
|
MONDO:0864558 |
genetic bone tumor |
GARD:20289 |
MONDO:equivalentTo |
Genetic bone tumor |
|
|
MONDO:0864559 |
rare genetic developmental defect during embryogenesis |
GARD:20290 |
MONDO:equivalentTo |
Rare genetic developmental defect during embryogenesis |
|
|
MONDO:0864560 |
genetic multiple congenital anomalies/dysmorphic syndrome |
GARD:20291 |
MONDO:equivalentTo |
Genetic multiple congenital anomalies/dysmorphic syndrome |
|
|
MONDO:0864561 |
genetic congenital limb malformation |
GARD:20292 |
MONDO:equivalentTo |
Genetic congenital limb malformation |
|
|
MONDO:0864562 |
genetic renal or urinary tract malformation |
GARD:20293 |
MONDO:equivalentTo |
Genetic renal or urinary tract malformation |
|
|
MONDO:0864563 |
genetic cranial malformation |
GARD:20294 |
MONDO:equivalentTo |
Genetic cranial malformation |
|
|
MONDO:0864564 |
genetic digestive tract malformation |
GARD:20295 |
MONDO:equivalentTo |
Genetic digestive tract malformation |
|
|
MONDO:0864565 |
genetic visceral malformation of the liver, biliary tract, pancreas or spleen |
GARD:20296 |
MONDO:equivalentTo |
Genetic visceral malformation of the liver, biliary tract, pancreas or spleen |
|
|
MONDO:0864566 |
genetic respiratory or mediastinal malformation |
GARD:20297 |
MONDO:equivalentTo |
Genetic respiratory or mediastinal malformation |
|
|
MONDO:0864567 |
genetic developmental defect of the eye |
GARD:20298 |
MONDO:equivalentTo |
Genetic developmental defect of the eye |
|
|
MONDO:0864568 |
genetic malformation syndrome with short stature |
GARD:20299 |
MONDO:equivalentTo |
Genetic malformation syndrome with short stature |
|
|
MONDO:0864569 |
genetic overgrowth/obesity syndrome |
GARD:20300 |
MONDO:equivalentTo |
Genetic overgrowth/obesity syndrome |
|
|
MONDO:0864570 |
genetic branchial arch or oral-acral syndrome |
GARD:20301 |
MONDO:equivalentTo |
Genetic branchial arch or oral-acral syndrome |
|
|
MONDO:0864571 |
genetic malformation syndrome with odontal and/or periodontal component |
GARD:20302 |
MONDO:equivalentTo |
Genetic malformation syndrome with odontal and/or periodontal component |
|
|
MONDO:0864572 |
genetic head and neck malformation |
GARD:20303 |
MONDO:equivalentTo |
Genetic head and neck malformation |
|
|
MONDO:0864573 |
genetic glomerular disease |
GARD:20304 |
MONDO:equivalentTo |
Genetic glomerular disease |
|
|
MONDO:0864574 |
genetic thrombotic microangiopathy |
GARD:20305 |
MONDO:equivalentTo |
Genetic thrombotic microangiopathy |
|
|
MONDO:0864575 |
genetic renal tubular disease |
GARD:20306 |
MONDO:equivalentTo |
Genetic renal tubular disease |
|
|
MONDO:0864576 |
genetic renal tumor |
GARD:20307 |
MONDO:equivalentTo |
Genetic renal tumor |
|
|
MONDO:0864577 |
genetic lens and zonula anomaly |
GARD:20308 |
MONDO:equivalentTo |
Genetic lens and zonula anomaly |
|
|
MONDO:0864578 |
genetic neuro-ophthalmological disease |
GARD:20309 |
MONDO:equivalentTo |
Genetic neuro-ophthalmological disease |
|
|
MONDO:0864579 |
qualitative or quantitative defects of dystrophin |
GARD:2031 |
MONDO:equivalentTo |
Qualitative or quantitative defects of dystrophin |
|
|
MONDO:0864580 |
genetic eye tumor |
GARD:20310 |
MONDO:equivalentTo |
Genetic eye tumor |
|
|
MONDO:0864581 |
genetic respiratory malformation |
GARD:20311 |
MONDO:equivalentTo |
Genetic respiratory malformation |
|
|
MONDO:0864582 |
rare genetic diabetes mellitus |
GARD:20312 |
MONDO:equivalentTo |
Rare genetic diabetes mellitus |
|
|
MONDO:0864583 |
rare genetic hypothalamic or pituitary disease |
GARD:20313 |
MONDO:equivalentTo |
Rare genetic hypothalamic or pituitary disease |
|
|
MONDO:0864584 |
rare genetic thyroid disease |
GARD:20314 |
MONDO:equivalentTo |
Rare genetic thyroid disease |
|
|
MONDO:0864585 |
rare genetic parathyroid disease and phosphocalcic metabolism disorder |
GARD:20315 |
MONDO:equivalentTo |
Rare genetic parathyroid disease and phosphocalcic metabolism disorder |
|
|
MONDO:0864586 |
rare genetic adrenal disease |
GARD:20316 |
MONDO:equivalentTo |
Rare genetic adrenal disease |
|
|
MONDO:0864587 |
genetic polyendocrinopathy |
GARD:20317 |
MONDO:equivalentTo |
Genetic polyendocrinopathy |
|
|
MONDO:0864588 |
rare constitutional anemia |
GARD:20318 |
MONDO:equivalentTo |
Rare constitutional anemia |
|
|
MONDO:0864589 |
rare genetic coagulation disorder |
GARD:20319 |
MONDO:equivalentTo |
Rare genetic coagulation disorder |
|
|
MONDO:0864590 |
agammaglobulinemia |
GARD:20320 |
MONDO:equivalentTo |
Agammaglobulinemia |
|
|
MONDO:0864591 |
functional neutrophil defect |
GARD:20321 |
MONDO:equivalentTo |
Functional neutrophil defect |
|
|
MONDO:0864592 |
genetic susceptibility to infections due to particular pathogens |
GARD:20322 |
MONDO:equivalentTo |
Genetic susceptibility to infections due to particular pathogens |
|
|
MONDO:0864593 |
rare genetic gynecological and obstetrical diseases |
GARD:20323 |
MONDO:equivalentTo |
Rare genetic gynecological and obstetrical diseases |
|
|
MONDO:0864594 |
genetic gynecological tumor |
GARD:20324 |
MONDO:equivalentTo |
Genetic gynecological tumor |
|
|
MONDO:0864595 |
rare genetic intellectual disability |
GARD:20325 |
MONDO:equivalentTo |
Rare genetic intellectual disability |
|
|
MONDO:0864596 |
rare genetic syndromic intellectual disability |
GARD:20326 |
MONDO:equivalentTo |
Rare genetic syndromic intellectual disability |
|
|
MONDO:0864597 |
rare genetic immune disease |
GARD:20327 |
MONDO:equivalentTo |
Rare genetic immune disease |
|
|
MONDO:0864598 |
superficial fibromatosis |
GARD:20328 |
MONDO:equivalentTo |
Superficial fibromatosis |
|
|
MONDO:0864599 |
calcifying aponeurotic fibroma |
GARD:20329 |
MONDO:equivalentTo |
Calcifying aponeurotic fibroma |
|
|
MONDO:0864600 |
ear-patella-short stature syndrome |
GARD:2033 |
MONDO:equivalentTo |
Ear-patella-short stature syndrome |
|
|
MONDO:0864601 |
congenital microgastria |
GARD:20330 |
MONDO:equivalentTo |
Congenital microgastria |
|
|
MONDO:0864602 |
late-onset isolated acth deficiency |
GARD:20331 |
MONDO:equivalentTo |
Late-onset isolated ACTH deficiency |
|
|
MONDO:0864603 |
tetragametic chimerism |
GARD:20332 |
MONDO:equivalentTo |
Tetragametic chimerism |
|
|
MONDO:0864604 |
endophthalmitis |
GARD:20333 |
MONDO:equivalentTo |
Endophthalmitis |
|
|
MONDO:0864605 |
isolated autosomal dominant hypomagnesemia, glaudemans type |
GARD:20334 |
MONDO:equivalentTo |
Isolated autosomal dominant hypomagnesemia, Glaudemans type |
|
|
MONDO:0864606 |
congenital myopathy, paradas type |
GARD:20335 |
MONDO:equivalentTo |
Congenital myopathy, Paradas type |
|
|
MONDO:0864607 |
atypical autism |
GARD:20336 |
MONDO:equivalentTo |
Atypical autism |
|
|
MONDO:0864608 |
isolated cerebellar vermis hypoplasia |
GARD:20337 |
MONDO:equivalentTo |
Isolated cerebellar vermis hypoplasia |
|
|
MONDO:0864609 |
non-syndromic cerebral malformation |
GARD:20338 |
MONDO:equivalentTo |
Non-syndromic cerebral malformation |
|
|
MONDO:0864610 |
syndrome with corpus callosum agenesis/dysgenesis as a major feature |
GARD:20339 |
MONDO:equivalentTo |
Syndrome with corpus callosum agenesis/dysgenesis as a major feature |
|
|
MONDO:0864611 |
paroxysmal dystonia |
GARD:20340 |
MONDO:equivalentTo |
Paroxysmal dystonia |
|
|
MONDO:0864612 |
anomaly of puberty or/and menstrual cycle of genetic origin |
GARD:20341 |
MONDO:equivalentTo |
Anomaly of puberty or/and menstrual cycle of genetic origin |
|
|
MONDO:0864613 |
syndromic microphthalmia-anophthalmia-coloboma |
GARD:20342 |
MONDO:equivalentTo |
Syndromic microphthalmia-anophthalmia-coloboma |
|
|
MONDO:0864614 |
infantile krabbe disease |
GARD:20343 |
MONDO:equivalentTo |
Infantile Krabbe disease |
|
|
MONDO:0864615 |
late-infantile/juvenile krabbe disease |
GARD:20344 |
MONDO:equivalentTo |
Late-infantile/juvenile Krabbe disease |
|
|
MONDO:0864616 |
adult krabbe disease |
GARD:20345 |
MONDO:equivalentTo |
Adult Krabbe disease |
|
|
MONDO:0864617 |
cystadenoma of childhood |
GARD:20346 |
MONDO:equivalentTo |
Cystadenoma of childhood |
|
|
MONDO:0864618 |
malignant germ cell tumor of the vagina |
GARD:20347 |
MONDO:equivalentTo |
Malignant germ cell tumor of the vagina |
|
|
MONDO:0864619 |
vulvovaginal rhabdomyosarcoma |
GARD:20348 |
MONDO:equivalentTo |
Vulvovaginal rhabdomyosarcoma |
|
|
MONDO:0864620 |
malignant non-dysgerminomatous germ cell tumor of ovary |
GARD:20349 |
MONDO:equivalentTo |
Malignant non-dysgerminomatous germ cell tumor of ovary |
|
|
MONDO:0864621 |
ebola hemorrhagic fever |
GARD:2035 |
MONDO:equivalentTo |
Ebola hemorrhagic fever |
|
|
MONDO:0864622 |
symptomatic form of muscular dystrophy of duchenne and becker in female carriers |
GARD:20350 |
MONDO:equivalentTo |
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers |
|
|
MONDO:0864623 |
immune-mediated necrotizing myopathy |
GARD:20351 |
MONDO:equivalentTo |
Immune-mediated necrotizing myopathy |
|
|
MONDO:0864624 |
overlap myositis |
GARD:20352 |
MONDO:equivalentTo |
Overlap myositis |
|
|
MONDO:0864625 |
rippling muscle disease with myasthenia gravis |
GARD:20353 |
MONDO:equivalentTo |
Rippling muscle disease with myasthenia gravis |
|
|
MONDO:0864626 |
neurolymphomatosis |
GARD:20354 |
MONDO:equivalentTo |
Neurolymphomatosis |
|
|
MONDO:0864627 |
subacute inflammatory demyelinating polyneuropathy |
GARD:20355 |
MONDO:equivalentTo |
Subacute inflammatory demyelinating polyneuropathy |
|
|
MONDO:0864628 |
isolated asymptomatic elevation of creatine phosphokinase |
GARD:20356 |
MONDO:equivalentTo |
Isolated asymptomatic elevation of creatine phosphokinase |
|
|
MONDO:0864629 |
infectious disease with peripheral neuropathy |
GARD:20357 |
MONDO:equivalentTo |
Infectious disease with peripheral neuropathy |
|
|
MONDO:0864630 |
genetic skeletal muscle disease |
GARD:20358 |
MONDO:equivalentTo |
Genetic skeletal muscle disease |
|
|
MONDO:0864631 |
acquired skeletal muscle disease |
GARD:20359 |
MONDO:equivalentTo |
Acquired skeletal muscle disease |
|
|
MONDO:0864632 |
progressive muscular dystrophy |
GARD:20360 |
MONDO:equivalentTo |
Progressive muscular dystrophy |
|
|
MONDO:0864633 |
autosomal dominant distal myopathy |
GARD:20361 |
MONDO:equivalentTo |
Autosomal dominant distal myopathy |
|
|
MONDO:0864634 |
autosomal recessive distal myopathy |
GARD:20362 |
MONDO:equivalentTo |
Autosomal recessive distal myopathy |
|
|
MONDO:0864635 |
non-dystrophic myopathy |
GARD:20363 |
MONDO:equivalentTo |
Non-dystrophic myopathy |
|
|
MONDO:0864636 |
inclusion myopathy |
GARD:20364 |
MONDO:equivalentTo |
Inclusion myopathy |
|
|
MONDO:0864637 |
bulbospinal muscular atrophy |
GARD:20365 |
MONDO:equivalentTo |
Bulbospinal muscular atrophy |
|
|
MONDO:0864638 |
bulbospinal muscular atrophy of childhood |
GARD:20366 |
MONDO:equivalentTo |
Bulbospinal muscular atrophy of childhood |
|
|
MONDO:0864639 |
bulbospinal muscular atrophy of adult |
GARD:20367 |
MONDO:equivalentTo |
Bulbospinal muscular atrophy of adult |
|
|
MONDO:0864640 |
generalized bulbospinal muscular atrophy |
GARD:20368 |
MONDO:equivalentTo |
Generalized bulbospinal muscular atrophy |
|
|
MONDO:0864641 |
muscular lipidosis |
GARD:20369 |
MONDO:equivalentTo |
Muscular lipidosis |
|
|
MONDO:0864642 |
muscular glycogenosis |
GARD:20370 |
MONDO:equivalentTo |
Muscular glycogenosis |
|
|
MONDO:0864643 |
mitochondrial myopathy |
GARD:20371 |
MONDO:equivalentTo |
Mitochondrial myopathy |
|
|
MONDO:0864644 |
myotonic syndrome |
GARD:20372 |
MONDO:equivalentTo |
Myotonic syndrome |
|
|
MONDO:0864645 |
congenital myotonia |
GARD:20373 |
MONDO:equivalentTo |
Congenital myotonia |
|
|
MONDO:0864646 |
periodic paralysis |
GARD:20374 |
MONDO:equivalentTo |
Periodic paralysis |
|
|
MONDO:0864647 |
muscular tumor |
GARD:20375 |
MONDO:equivalentTo |
Muscular tumor |
|
|
MONDO:0864648 |
infectious, fungal or parasitic myopathy |
GARD:20376 |
MONDO:equivalentTo |
Infectious, fungal or parasitic myopathy |
|
|
MONDO:0864649 |
viral myositis |
GARD:20377 |
MONDO:equivalentTo |
Viral myositis |
|
|
MONDO:0864650 |
bacterial myositis |
GARD:20378 |
MONDO:equivalentTo |
Bacterial myositis |
|
|
MONDO:0864651 |
parasitic myositis |
GARD:20379 |
MONDO:equivalentTo |
Parasitic myositis |
|
|
MONDO:0864652 |
fungal myositis |
GARD:20380 |
MONDO:equivalentTo |
Fungal myositis |
|
|
MONDO:0864653 |
spinal muscular atrophy associated with central nervous system anomaly |
GARD:20381 |
MONDO:equivalentTo |
Spinal muscular atrophy associated with central nervous system anomaly |
|
|
MONDO:0864654 |
rare hereditary metabolic disease with peripheral neuropathy |
GARD:20382 |
MONDO:equivalentTo |
Rare hereditary metabolic disease with peripheral neuropathy |
|
|
MONDO:0864655 |
rare hereditary systemic disease with peripheral neuropathy |
GARD:20383 |
MONDO:equivalentTo |
Rare hereditary systemic disease with peripheral neuropathy |
|
|
MONDO:0864656 |
rare hereditary neurologic disease with peripheral neuropathy |
GARD:20384 |
MONDO:equivalentTo |
Rare hereditary neurologic disease with peripheral neuropathy |
|
|
MONDO:0864657 |
cerebellar ataxia with peripheral neuropathy |
GARD:20385 |
MONDO:equivalentTo |
Cerebellar ataxia with peripheral neuropathy |
|
|
MONDO:0864658 |
acute and subacute inflammatory demyelinating polyneuropathy |
GARD:20386 |
MONDO:equivalentTo |
Acute and subacute inflammatory demyelinating polyneuropathy |
|
|
MONDO:0864659 |
malignant lymphoma with peripheral neuropathy |
GARD:20387 |
MONDO:equivalentTo |
Malignant lymphoma with peripheral neuropathy |
|
|
MONDO:0864660 |
qualitative or quantitative protein defects in neuromuscular diseases |
GARD:20388 |
MONDO:equivalentTo |
Qualitative or quantitative protein defects in neuromuscular diseases |
|
|
MONDO:0864661 |
qualitative or quantitative defects of sarcoglycan |
GARD:20389 |
MONDO:equivalentTo |
Qualitative or quantitative defects of sarcoglycan |
|
|
MONDO:0864662 |
qualitative or quantitative defects of alpha-sarcoglycan |
GARD:20390 |
MONDO:equivalentTo |
Qualitative or quantitative defects of alpha-sarcoglycan |
|
|
MONDO:0864663 |
qualitative or quantitative defects of beta-sarcoglycan |
GARD:20391 |
MONDO:equivalentTo |
Qualitative or quantitative defects of beta-sarcoglycan |
|
|
MONDO:0864664 |
qualitative or quantitative defects of gamma-sarcoglycan |
GARD:20392 |
MONDO:equivalentTo |
Qualitative or quantitative defects of gamma-sarcoglycan |
|
|
MONDO:0864665 |
qualitative or quantitative defects of delta-sarcoglycan |
GARD:20393 |
MONDO:equivalentTo |
Qualitative or quantitative defects of delta-sarcoglycan |
|
|
MONDO:0864666 |
qualitative or quantitative defects of caveolin-3 |
GARD:20394 |
MONDO:equivalentTo |
Qualitative or quantitative defects of caveolin-3 |
|
|
MONDO:0864667 |
qualitative or quantitative defects of collagen 6 |
GARD:20395 |
MONDO:equivalentTo |
Qualitative or quantitative defects of collagen 6 |
|
|
MONDO:0864668 |
laminin subunit alpha 2-related muscular dystrophy |
GARD:20396 |
MONDO:equivalentTo |
Laminin subunit alpha 2-related muscular dystrophy |
|
|
MONDO:0864669 |
qualitative or quantitative defects of integrin alpha-7 |
GARD:20397 |
MONDO:equivalentTo |
Qualitative or quantitative defects of integrin alpha-7 |
|
|
MONDO:0864670 |
qualitative or quantitative defects of perlecan |
GARD:20398 |
MONDO:equivalentTo |
Qualitative or quantitative defects of perlecan |
|
|
MONDO:0864671 |
qualitative or quantitative defects of calpain |
GARD:20399 |
MONDO:equivalentTo |
Qualitative or quantitative defects of calpain |
|
|
MONDO:0864672 |
qualitative or quantitative defects of trim32 |
GARD:20400 |
MONDO:equivalentTo |
Qualitative or quantitative defects of TRIM32 |
|
|
MONDO:0864673 |
qualitative or quantitative defects of myotubularin |
GARD:20401 |
MONDO:equivalentTo |
Qualitative or quantitative defects of myotubularin |
|
|
MONDO:0864674 |
qualitative or quantitative defects of protein involved in o-glycosylation of alpha-dystroglycan |
GARD:20402 |
MONDO:equivalentTo |
Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan |
|
|
MONDO:0864675 |
qualitative or quantitative defects of fkrp |
GARD:20403 |
MONDO:equivalentTo |
Qualitative or quantitative defects of FKRP |
|
|
MONDO:0864676 |
qualitative or quantitative defects of fukutin |
GARD:20404 |
MONDO:equivalentTo |
Qualitative or quantitative defects of fukutin |
|
|
MONDO:0864677 |
autosomal dominant cerebellar ataxia type ii |
GARD:20405 |
MONDO:equivalentTo |
Autosomal dominant cerebellar ataxia type II |
|
|
MONDO:0864678 |
herpetiform pemphigus |
GARD:20406 |
MONDO:equivalentTo |
Herpetiform pemphigus |
|
|
MONDO:0864679 |
genetic hypoparathyroidism |
GARD:20407 |
MONDO:equivalentTo |
Genetic hypoparathyroidism |
|
|
MONDO:0864680 |
genetic hyperparathyroidism |
GARD:20408 |
MONDO:equivalentTo |
Genetic hyperparathyroidism |
|
|
MONDO:0864681 |
chronic acquired demyelinating polyneuropathy |
GARD:20409 |
MONDO:equivalentTo |
Chronic acquired demyelinating polyneuropathy |
|
|
MONDO:0864682 |
chronic polyradiculoneuropathy |
GARD:20410 |
MONDO:equivalentTo |
Chronic polyradiculoneuropathy |
|
|
MONDO:0864683 |
polyradiculoneuropathy associated with igg/iga/igm monoclonal gammopathy without known antibodies |
GARD:20411 |
MONDO:equivalentTo |
Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies |
|
|
MONDO:0864684 |
acquired sensory ganglionopathy |
GARD:20412 |
MONDO:equivalentTo |
Acquired sensory ganglionopathy |
|
|
MONDO:0864685 |
non-paraneoplastic sensory ganglionopathy |
GARD:20413 |
MONDO:equivalentTo |
Non-paraneoplastic sensory ganglionopathy |
|
|
MONDO:0864686 |
paraneoplastic sensory ganglionopathy |
GARD:20414 |
MONDO:equivalentTo |
Paraneoplastic sensory ganglionopathy |
|
|
MONDO:0864687 |
axonal polyneuropathy associated with igg/igm/iga monoclonal gammopathy |
GARD:20415 |
MONDO:equivalentTo |
Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy |
|
|
MONDO:0864688 |
systemic inflammatory disease associated with an acquired peripheral neuropathy |
GARD:20416 |
MONDO:equivalentTo |
Systemic inflammatory disease associated with an acquired peripheral neuropathy |
|
|
MONDO:0864689 |
peripheral neuropathy associated with monoclonal gammopathy |
GARD:20417 |
MONDO:equivalentTo |
Peripheral neuropathy associated with monoclonal gammopathy |
|
|
MONDO:0864690 |
acquired amyloid peripheral neuropathy |
GARD:20418 |
MONDO:equivalentTo |
Acquired amyloid peripheral neuropathy |
|
|
MONDO:0864691 |
hematological disease associated with an acquired peripheral neuropathy |
GARD:20419 |
MONDO:equivalentTo |
Hematological disease associated with an acquired peripheral neuropathy |
|
|
MONDO:0864692 |
solid tumor associated with an acquired peripheral neuropathy |
GARD:20420 |
MONDO:equivalentTo |
Solid tumor associated with an acquired peripheral neuropathy |
|
|
MONDO:0864693 |
qualitative or quantitative defects of protein o-mannose beta1,2n-acetylglucosaminyltransferase |
GARD:20421 |
MONDO:equivalentTo |
Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase |
|
|
MONDO:0864694 |
qualitative or quantitative defects of protein glycosyltransferase-like |
GARD:20422 |
MONDO:equivalentTo |
Qualitative or quantitative defects of protein glycosyltransferase-like |
|
|
MONDO:0864695 |
qualitative or quantitative defects of protein o-mannosyltransferase 1 |
GARD:20423 |
MONDO:equivalentTo |
Qualitative or quantitative defects of protein O-mannosyltransferase 1 |
|
|
MONDO:0864696 |
qualitative or quantitative defects of protein o-mannosyltransferase 2 |
GARD:20424 |
MONDO:equivalentTo |
Qualitative or quantitative defects of protein O-mannosyltransferase 2 |
|
|
MONDO:0864697 |
qualitative or quantitative defects of myofibrillar proteins |
GARD:20425 |
MONDO:equivalentTo |
Qualitative or quantitative defects of myofibrillar proteins |
|
|
MONDO:0864698 |
qualitative or quantitative defects of desmin |
GARD:20426 |
MONDO:equivalentTo |
Qualitative or quantitative defects of desmin |
|
|
MONDO:0864699 |
qualitative or quantitative defects of alphab-cristallin |
GARD:20427 |
MONDO:equivalentTo |
Qualitative or quantitative defects of alphaB-cristallin |
|
|
MONDO:0864700 |
qualitative or quantitative defects of filamin c |
GARD:20428 |
MONDO:equivalentTo |
Qualitative or quantitative defects of filamin C |
|
|
MONDO:0864701 |
qualitative or quantitative defects of protein zasp |
GARD:20429 |
MONDO:equivalentTo |
Qualitative or quantitative defects of protein ZASP |
|
|
MONDO:0864702 |
qualitative or quantitative defects of titin |
GARD:20430 |
MONDO:equivalentTo |
Qualitative or quantitative defects of titin |
|
|
MONDO:0864703 |
qualitative or quantitative defects of telethonin |
GARD:20431 |
MONDO:equivalentTo |
Qualitative or quantitative defects of telethonin |
|
|
MONDO:0864704 |
qualitative or quantitative defects of alpha-actin |
GARD:20432 |
MONDO:equivalentTo |
Qualitative or quantitative defects of alpha-actin |
|
|
MONDO:0864705 |
qualitative or quantitative defects of nebulin |
GARD:20433 |
MONDO:equivalentTo |
Qualitative or quantitative defects of nebulin |
|
|
MONDO:0864706 |
qualitative or quantitative defects of beta-myosin heavy chain (myh7) |
GARD:20434 |
MONDO:equivalentTo |
Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) |
|
|
MONDO:0864707 |
qualitative or quantitative defects of emerin |
GARD:20435 |
MONDO:equivalentTo |
Qualitative or quantitative defects of emerin |
|
|
MONDO:0864708 |
qualitative or quantitative defects of selenoprotein n1 |
GARD:20436 |
MONDO:equivalentTo |
Qualitative or quantitative defects of selenoprotein N1 |
|
|
MONDO:0864709 |
qualitative or quantitative defects of plectin |
GARD:20437 |
MONDO:equivalentTo |
Qualitative or quantitative defects of plectin |
|
|
MONDO:0864710 |
qualitative or quantitative defects of protein serca1 |
GARD:20438 |
MONDO:equivalentTo |
Qualitative or quantitative defects of protein SERCA1 |
|
|
MONDO:0864711 |
qualitative or quantitative defects of glucosamine (udp-n-acetyl)-2-epimerase/n-acetylmannosamine kinase - |
GARD:20439 |
MONDO:equivalentTo |
Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - |
|
|
MONDO:0864712 |
leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome |
GARD:2044 |
MONDO:equivalentTo |
Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome |
|
|
MONDO:0864713 |
myotilinopathy |
GARD:20440 |
MONDO:equivalentTo |
Myotilinopathy |
|
|
MONDO:0864714 |
hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency |
GARD:20441 |
MONDO:equivalentTo |
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency |
|
|
MONDO:0864715 |
idiopathic uveal effusion syndrome |
GARD:20442 |
MONDO:equivalentTo |
Idiopathic uveal effusion syndrome |
|
|
MONDO:0864716 |
phacoanaphylactic uveitis |
GARD:20443 |
MONDO:equivalentTo |
Phacoanaphylactic uveitis |
|
|
MONDO:0864717 |
solitary rectal ulcer syndrome |
GARD:20444 |
MONDO:equivalentTo |
Solitary rectal ulcer syndrome |
|
|
MONDO:0864718 |
benign nocturnal alternating hemiplegia of childhood |
GARD:20445 |
MONDO:equivalentTo |
Benign nocturnal alternating hemiplegia of childhood |
|
|
MONDO:0864719 |
alternating hemiplegia |
GARD:20446 |
MONDO:equivalentTo |
Alternating hemiplegia |
|
|
MONDO:0864720 |
non-papillary transitional cell carcinoma of the bladder |
GARD:20447 |
MONDO:equivalentTo |
Non-papillary transitional cell carcinoma of the bladder |
|
|
MONDO:0864721 |
leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome |
GARD:20448 |
MONDO:equivalentTo |
Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome |
|
|
MONDO:0864722 |
pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome |
GARD:20449 |
MONDO:equivalentTo |
Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome |
|
|
MONDO:0864723 |
ectodermal dysplasia-blindness syndrome |
GARD:2045 |
MONDO:equivalentTo |
Ectodermal dysplasia-blindness syndrome |
|
|
MONDO:0864724 |
congenital temporomandibular joint ankylosis |
GARD:20450 |
MONDO:equivalentTo |
Congenital temporomandibular joint ankylosis |
|
|
MONDO:0864725 |
temporomandibular joint anomaly |
GARD:20451 |
MONDO:equivalentTo |
Temporomandibular joint anomaly |
|
|
MONDO:0864726 |
spindle cell hemangioma |
GARD:20452 |
MONDO:equivalentTo |
Spindle cell hemangioma |
|
|
MONDO:0864727 |
infantile hemangioma of rare localization |
GARD:20453 |
MONDO:equivalentTo |
Infantile hemangioma of rare localization |
|
|
MONDO:0864728 |
autosomal dominant proximal spinal muscular atrophy |
GARD:20454 |
MONDO:equivalentTo |
Autosomal dominant proximal spinal muscular atrophy |
|
|
MONDO:0864729 |
specific learning disability |
GARD:20455 |
MONDO:equivalentTo |
Specific learning disability |
|
|
MONDO:0864730 |
specific language disorder |
GARD:20456 |
MONDO:equivalentTo |
Specific language disorder |
|
|
MONDO:0864731 |
hereditary episodic ataxia |
GARD:20457 |
MONDO:equivalentTo |
Hereditary episodic ataxia |
|
|
MONDO:0864732 |
rare vascular tumor |
GARD:20458 |
MONDO:equivalentTo |
Rare vascular tumor |
|
|
MONDO:0864733 |
genetic vascular anomaly |
GARD:20459 |
MONDO:equivalentTo |
Genetic vascular anomaly |
|
|
MONDO:0864734 |
simple vascular malformation |
GARD:20460 |
MONDO:equivalentTo |
Simple vascular malformation |
|
|
MONDO:0864735 |
rare capillary malformation |
GARD:20461 |
MONDO:equivalentTo |
Rare capillary malformation |
|
|
MONDO:0864736 |
rare venous malformation |
GARD:20462 |
MONDO:equivalentTo |
Rare venous malformation |
|
|
MONDO:0864737 |
rare lymphatic system anomaly |
GARD:20463 |
MONDO:equivalentTo |
Rare lymphatic system anomaly |
|
|
MONDO:0864738 |
rare arteriovenous malformation |
GARD:20464 |
MONDO:equivalentTo |
Rare arteriovenous malformation |
|
|
MONDO:0864739 |
complex vascular malformation with associated anomalies |
GARD:20465 |
MONDO:equivalentTo |
Complex vascular malformation with associated anomalies |
|
|
MONDO:0864740 |
adenocarcinoma of ovary |
GARD:20466 |
MONDO:equivalentTo |
Adenocarcinoma of ovary |
|
|
MONDO:0864741 |
familial ovarian cancer |
GARD:20467 |
MONDO:equivalentTo |
Familial ovarian cancer |
|
|
MONDO:0864742 |
hereditary site-specific ovarian cancer syndrome |
GARD:20468 |
MONDO:equivalentTo |
Hereditary site-specific ovarian cancer syndrome |
|
|
MONDO:0864743 |
rare uterine cancer |
GARD:20469 |
MONDO:equivalentTo |
Rare uterine cancer |
|
|
MONDO:0864744 |
rare cancer of corpus uteri |
GARD:20470 |
MONDO:equivalentTo |
Rare cancer of corpus uteri |
|
|
MONDO:0864745 |
rare variants of adenocarcinoma of the corpus uteri |
GARD:20471 |
MONDO:equivalentTo |
Rare variants of adenocarcinoma of the corpus uteri |
|
|
MONDO:0864746 |
malignant mixed epithelial and mesenchymal tumor of corpus uteri |
GARD:20472 |
MONDO:equivalentTo |
Malignant mixed epithelial and mesenchymal tumor of corpus uteri |
|
|
MONDO:0864747 |
adenosarcoma of the corpus uteri |
GARD:20473 |
MONDO:equivalentTo |
Adenosarcoma of the corpus uteri |
|
|
MONDO:0864748 |
carcinofibroma of the corpus uteri |
GARD:20474 |
MONDO:equivalentTo |
Carcinofibroma of the corpus uteri |
|
|
MONDO:0864749 |
rhabdomyosarcoma of the corpus uteri |
GARD:20475 |
MONDO:equivalentTo |
Rhabdomyosarcoma of the corpus uteri |
|
|
MONDO:0864750 |
sarcoma of the corpus uteri |
GARD:20476 |
MONDO:equivalentTo |
Sarcoma of the corpus uteri |
|
|
MONDO:0864751 |
leiomyosarcoma of the corpus uteri |
GARD:20477 |
MONDO:equivalentTo |
Leiomyosarcoma of the corpus uteri |
|
|
MONDO:0864752 |
primitive neuroectodermal tumor of the corpus uteri |
GARD:20478 |
MONDO:equivalentTo |
Primitive neuroectodermal tumor of the corpus uteri |
|
|
MONDO:0864753 |
squamous cell carcinoma of the corpus uteri |
GARD:20479 |
MONDO:equivalentTo |
Squamous cell carcinoma of the corpus uteri |
|
|
MONDO:0864754 |
autosomal dominant hypohidrotic ectodermal dysplasia |
GARD:2048 |
MONDO:equivalentTo |
Autosomal dominant hypohidrotic ectodermal dysplasia |
|
|
MONDO:0864755 |
undifferentiated carcinoma of the corpus uteri |
GARD:20480 |
MONDO:equivalentTo |
Undifferentiated carcinoma of the corpus uteri |
|
|
MONDO:0864756 |
serous carcinoma of the corpus uteri |
GARD:20481 |
MONDO:equivalentTo |
Serous carcinoma of the corpus uteri |
|
|
MONDO:0864757 |
high-grade neuroendocrine carcinoma of the corpus uteri |
GARD:20482 |
MONDO:equivalentTo |
High-grade neuroendocrine carcinoma of the corpus uteri |
|
|
MONDO:0864758 |
low-grade neuroendocrine tumor of the corpus uteri |
GARD:20483 |
MONDO:equivalentTo |
Low-grade neuroendocrine tumor of the corpus uteri |
|
|
MONDO:0864759 |
transitional cell carcinoma of the corpus uteri |
GARD:20484 |
MONDO:equivalentTo |
Transitional cell carcinoma of the corpus uteri |
|
|
MONDO:0864760 |
malignant germ cell tumor of the corpus uteri |
GARD:20485 |
MONDO:equivalentTo |
Malignant germ cell tumor of the corpus uteri |
|
|
MONDO:0864761 |
rare cancer of cervix uteri |
GARD:20486 |
MONDO:equivalentTo |
Rare cancer of cervix uteri |
|
|
MONDO:0864762 |
squamous cell carcinoma of the cervix uteri |
GARD:20487 |
MONDO:equivalentTo |
Squamous cell carcinoma of the cervix uteri |
|
|
MONDO:0864763 |
adenocarcinoma of the cervix uteri |
GARD:20488 |
MONDO:equivalentTo |
Adenocarcinoma of the cervix uteri |
|
|
MONDO:0864764 |
high-grade neuroendocrine carcinoma of the cervix uteri |
GARD:20489 |
MONDO:equivalentTo |
High-grade neuroendocrine carcinoma of the cervix uteri |
|
|
MONDO:0864765 |
hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome |
GARD:2049 |
MONDO:equivalentTo |
Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome |
|
|
MONDO:0864766 |
malignant mixed epithelial and mesenchymal tumor of cervix uteri |
GARD:20490 |
MONDO:equivalentTo |
Malignant mixed epithelial and mesenchymal tumor of cervix uteri |
|
|
MONDO:0864767 |
carcinosarcoma of the cervix uteri |
GARD:20491 |
MONDO:equivalentTo |
Carcinosarcoma of the cervix uteri |
|
|
MONDO:0864768 |
adenosarcoma of the cervix uteri |
GARD:20492 |
MONDO:equivalentTo |
Adenosarcoma of the cervix uteri |
|
|
MONDO:0864769 |
sarcoma of cervix uteri |
GARD:20493 |
MONDO:equivalentTo |
Sarcoma of cervix uteri |
|
|
MONDO:0864770 |
rhabdomyosarcoma of the cervix uteri |
GARD:20494 |
MONDO:equivalentTo |
Rhabdomyosarcoma of the cervix uteri |
|
|
MONDO:0864771 |
leiomyosarcoma of the cervix uteri |
GARD:20495 |
MONDO:equivalentTo |
Leiomyosarcoma of the cervix uteri |
|
|
MONDO:0864772 |
primitive neuroectodermal tumor of the cervix uteri |
GARD:20496 |
MONDO:equivalentTo |
Primitive neuroectodermal tumor of the cervix uteri |
|
|
MONDO:0864773 |
papillary carcinoma of the cervix uteri |
GARD:20497 |
MONDO:equivalentTo |
Papillary carcinoma of the cervix uteri |
|
|
MONDO:0864774 |
adenoid cystic carcinoma of the cervix uteri |
GARD:20498 |
MONDO:equivalentTo |
Adenoid cystic carcinoma of the cervix uteri |
|
|
MONDO:0864775 |
adenoid basal carcinoma of the cervix uteri |
GARD:20499 |
MONDO:equivalentTo |
Adenoid basal carcinoma of the cervix uteri |
|
|
MONDO:0864776 |
glassy cell carcinoma of the cervix uteri |
GARD:20500 |
MONDO:equivalentTo |
Glassy cell carcinoma of the cervix uteri |
|
|
MONDO:0864777 |
malignant germ cell tumor of the cervix uteri |
GARD:20501 |
MONDO:equivalentTo |
Malignant germ cell tumor of the cervix uteri |
|
|
MONDO:0864778 |
isolated congenitally uncorrected transposition of the great arteries |
GARD:20502 |
MONDO:equivalentTo |
Isolated congenitally uncorrected transposition of the great arteries |
|
|
MONDO:0864779 |
congenitally uncorrected transposition of the great arteries with cardiac malformation |
GARD:20503 |
MONDO:equivalentTo |
Congenitally uncorrected transposition of the great arteries with cardiac malformation |
|
|
MONDO:0864780 |
niemann-pick disease type c, severe perinatal form |
GARD:20504 |
MONDO:equivalentTo |
Niemann-Pick disease type C, severe perinatal form |
|
|
MONDO:0864781 |
niemann-pick disease type c, severe early infantile neurologic onset |
GARD:20505 |
MONDO:equivalentTo |
Niemann-Pick disease type C, severe early infantile neurologic onset |
|
|
MONDO:0864782 |
niemann-pick disease type c, late infantile neurologic onset |
GARD:20506 |
MONDO:equivalentTo |
Niemann-Pick disease type C, late infantile neurologic onset |
|
|
MONDO:0864783 |
niemann-pick disease type c, juvenile neurologic onset |
GARD:20507 |
MONDO:equivalentTo |
Niemann-Pick disease type C, juvenile neurologic onset |
|
|
MONDO:0864784 |
niemann-pick disease type c, adult neurologic onset |
GARD:20508 |
MONDO:equivalentTo |
Niemann-Pick disease type C, adult neurologic onset |
|
|
MONDO:0864785 |
5-fluorouracil poisoning |
GARD:20509 |
MONDO:equivalentTo |
5-fluorouracil poisoning |
|
|
MONDO:0864786 |
pouchitis |
GARD:20510 |
MONDO:equivalentTo |
Pouchitis |
|
|
MONDO:0864787 |
rare carcinoma of pancreas |
GARD:20511 |
MONDO:equivalentTo |
Rare carcinoma of pancreas |
|
|
MONDO:0864788 |
pulmonary fungal infections in patients deemed at risk |
GARD:20512 |
MONDO:equivalentTo |
Pulmonary fungal infections in patients deemed at risk |
|
|
MONDO:0864789 |
nmda receptor encephalitis |
GARD:20513 |
MONDO:equivalentTo |
NMDA receptor encephalitis |
|
|
MONDO:0864790 |
congenital insensitivity to pain-hyperhidrosis-absence of c-fiber innervation |
GARD:20514 |
MONDO:equivalentTo |
Congenital insensitivity to pain-hyperhidrosis-absence of C-fiber innervation |
|
|
MONDO:0864791 |
rare hereditary thrombophilia |
GARD:20515 |
MONDO:equivalentTo |
Rare hereditary thrombophilia |
|
|
MONDO:0864792 |
pulmonary interstitial glycogenosis |
GARD:20516 |
MONDO:equivalentTo |
Pulmonary interstitial glycogenosis |
|
|
MONDO:0864793 |
neuroendocrine cell hyperplasia of infancy |
GARD:20517 |
MONDO:equivalentTo |
Neuroendocrine cell hyperplasia of infancy |
|
|
MONDO:0864794 |
rare hypertrophic cardiomyopathy |
GARD:20518 |
MONDO:equivalentTo |
Rare hypertrophic cardiomyopathy |
|
|
MONDO:0864795 |
glycogen storage disease with hypertrophic cardiomyopathy |
GARD:20519 |
MONDO:equivalentTo |
Glycogen storage disease with hypertrophic cardiomyopathy |
|
|
MONDO:0864796 |
lysosomal disease with hypertrophic cardiomyopathy |
GARD:20520 |
MONDO:equivalentTo |
Lysosomal disease with hypertrophic cardiomyopathy |
|
|
MONDO:0864797 |
mitochondrial disease with hypertrophic cardiomyopathy |
GARD:20521 |
MONDO:equivalentTo |
Mitochondrial disease with hypertrophic cardiomyopathy |
|
|
MONDO:0864798 |
fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy |
GARD:20522 |
MONDO:equivalentTo |
Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy |
|
|
MONDO:0864799 |
syndrome associated with hypertrophic cardiomyopathy |
GARD:20523 |
MONDO:equivalentTo |
Syndrome associated with hypertrophic cardiomyopathy |
|
|
MONDO:0864800 |
non-familial hypertrophic cardiomyopathy |
GARD:20524 |
MONDO:equivalentTo |
Non-familial hypertrophic cardiomyopathy |
|
|
MONDO:0864801 |
familial dilated cardiomyopathy |
GARD:20525 |
MONDO:equivalentTo |
Familial dilated cardiomyopathy |
|
|
MONDO:0864802 |
neuromuscular disease with dilated cardiomyopathy |
GARD:20526 |
MONDO:equivalentTo |
Neuromuscular disease with dilated cardiomyopathy |
|
|
MONDO:0864803 |
mitochondrial disease with dilated cardiomyopathy |
GARD:20527 |
MONDO:equivalentTo |
Mitochondrial disease with dilated cardiomyopathy |
|
|
MONDO:0864804 |
fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy |
GARD:20528 |
MONDO:equivalentTo |
Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy |
|
|
MONDO:0864805 |
syndrome associated with dilated cardiomyopathy |
GARD:20529 |
MONDO:equivalentTo |
Syndrome associated with dilated cardiomyopathy |
|
|
MONDO:0864806 |
non-familial dilated cardiomyopathy |
GARD:20530 |
MONDO:equivalentTo |
Non-familial dilated cardiomyopathy |
|
|
MONDO:0864807 |
restrictive cardiomyopathy |
GARD:20531 |
MONDO:equivalentTo |
Restrictive cardiomyopathy |
|
|
MONDO:0864808 |
familial restrictive cardiomyopathy |
GARD:20532 |
MONDO:equivalentTo |
Familial restrictive cardiomyopathy |
|
|
MONDO:0864809 |
lysosomal disease with restrictive cardiomyopathy |
GARD:20533 |
MONDO:equivalentTo |
Lysosomal disease with restrictive cardiomyopathy |
|
|
MONDO:0864810 |
unclassified cardiomyopathy |
GARD:20534 |
MONDO:equivalentTo |
Unclassified cardiomyopathy |
|
|
MONDO:0864811 |
non-familial restrictive cardiomyopathy |
GARD:20535 |
MONDO:equivalentTo |
Non-familial restrictive cardiomyopathy |
|
|
MONDO:0864812 |
rare cardiac rhythm disease |
GARD:20536 |
MONDO:equivalentTo |
Rare cardiac rhythm disease |
|
|
MONDO:0864813 |
non-genetic cardiac rhythm disease |
GARD:20537 |
MONDO:equivalentTo |
Non-genetic cardiac rhythm disease |
|
|
MONDO:0864814 |
macrothrombocytopenia with mitral valve insufficiency |
GARD:20538 |
MONDO:equivalentTo |
Macrothrombocytopenia with mitral valve insufficiency |
|
|
MONDO:0864815 |
isolated hereditary giant platelet disorder |
GARD:20539 |
MONDO:equivalentTo |
Isolated hereditary giant platelet disorder |
|
|
MONDO:0864816 |
rare hereditary hemochromatosis |
GARD:20540 |
MONDO:equivalentTo |
Rare hereditary hemochromatosis |
|
|
MONDO:0864817 |
combined hyperactive dysfunction syndrome of the cranial nerves |
GARD:20541 |
MONDO:equivalentTo |
Combined hyperactive dysfunction syndrome of the cranial nerves |
|
|
MONDO:0864818 |
cranial neuralgia |
GARD:20542 |
MONDO:equivalentTo |
Cranial neuralgia |
|
|
MONDO:0864819 |
acquired peripheral movement disorder |
GARD:20543 |
MONDO:equivalentTo |
Acquired peripheral movement disorder |
|
|
MONDO:0864820 |
confetti-like macular atrophy |
GARD:20544 |
MONDO:equivalentTo |
Confetti-like macular atrophy |
|
|
MONDO:0864821 |
hereditary poikiloderma |
GARD:20545 |
MONDO:equivalentTo |
Hereditary poikiloderma |
|
|
MONDO:0864822 |
mitochondrial oxidative phosphorylation disorder |
GARD:20546 |
MONDO:equivalentTo |
Mitochondrial oxidative phosphorylation disorder |
|
|
MONDO:0864823 |
bone sarcoma |
GARD:20547 |
MONDO:equivalentTo |
Bone sarcoma |
|
|
MONDO:0864824 |
lymphoma |
GARD:20548 |
MONDO:equivalentTo |
Lymphoma |
|
|
MONDO:0864825 |
sporadic infantile bilateral striatal necrosis |
GARD:20549 |
MONDO:equivalentTo |
Sporadic infantile bilateral striatal necrosis |
|
|
MONDO:0864826 |
ectodermal dysplasia, trichoodontoonychial type |
GARD:2055 |
MONDO:equivalentTo |
Ectodermal dysplasia, trichoodontoonychial type |
|
|
MONDO:0864827 |
lysosomal disease with epilepsy |
GARD:20550 |
MONDO:equivalentTo |
Lysosomal disease with epilepsy |
|
|
MONDO:0864828 |
peroxisomal disease with epilepsy |
GARD:20551 |
MONDO:equivalentTo |
Peroxisomal disease with epilepsy |
|
|
MONDO:0864829 |
amino acid or protein metabolism disease with epilepsy |
GARD:20552 |
MONDO:equivalentTo |
Amino acid or protein metabolism disease with epilepsy |
|
|
MONDO:0864830 |
metal transport or utilization disorder with epilepsy |
GARD:20553 |
MONDO:equivalentTo |
Metal transport or utilization disorder with epilepsy |
|
|
MONDO:0864831 |
energy metabolism disorder with epilepsy |
GARD:20554 |
MONDO:equivalentTo |
Energy metabolism disorder with epilepsy |
|
|
MONDO:0864832 |
mitochondrial disease with epilepsy |
GARD:20555 |
MONDO:equivalentTo |
Mitochondrial disease with epilepsy |
|
|
MONDO:0864833 |
mitochondrial disease with peripheral neuropathy |
GARD:20556 |
MONDO:equivalentTo |
Mitochondrial disease with peripheral neuropathy |
|
|
MONDO:0864834 |
metabolic neurotransmission anomaly with epilepsy |
GARD:20557 |
MONDO:equivalentTo |
Metabolic neurotransmission anomaly with epilepsy |
|
|
MONDO:0864835 |
sterol metabolism disorder with epilepsy |
GARD:20558 |
MONDO:equivalentTo |
Sterol metabolism disorder with epilepsy |
|
|
MONDO:0864836 |
other metabolic disease with epilepsy |
GARD:20559 |
MONDO:equivalentTo |
Other metabolic disease with epilepsy |
|
|
MONDO:0864837 |
hidrotic ectodermal dysplasia |
GARD:2056 |
MONDO:equivalentTo |
Hidrotic ectodermal dysplasia |
|
|
MONDO:0864838 |
permanent congenital hypothyroidism |
GARD:20560 |
MONDO:equivalentTo |
Permanent congenital hypothyroidism |
|
|
MONDO:0864839 |
primary congenital hypothyroidism |
GARD:20561 |
MONDO:equivalentTo |
Primary congenital hypothyroidism |
|
|
MONDO:0864840 |
hypothyroidism due to deficient transcription factors involved in pituitary development or function |
GARD:20562 |
MONDO:equivalentTo |
Hypothyroidism due to deficient transcription factors involved in pituitary development or function |
|
|
MONDO:0864841 |
congenital hypothyroidism due to maternal intake of antithyroid drugs |
GARD:20563 |
MONDO:equivalentTo |
Congenital hypothyroidism due to maternal intake of antithyroid drugs |
|
|
MONDO:0864842 |
genetic transient congenital hypothyroidism |
GARD:20564 |
MONDO:equivalentTo |
Genetic transient congenital hypothyroidism |
|
|
MONDO:0864843 |
multiple system atrophy, cerebellar type |
GARD:20565 |
MONDO:equivalentTo |
Multiple system atrophy, cerebellar type |
|
|
MONDO:0864844 |
toxic oil syndrome |
GARD:20566 |
MONDO:equivalentTo |
Toxic oil syndrome |
|
|
MONDO:0864845 |
autoimmune polyendocrinopathy type 4 |
GARD:20567 |
MONDO:equivalentTo |
Autoimmune polyendocrinopathy type 4 |
|
|
MONDO:0864846 |
anal fistula |
GARD:20568 |
MONDO:equivalentTo |
Anal fistula |
|
|
MONDO:0864847 |
hughes-stovin syndrome |
GARD:20569 |
MONDO:equivalentTo |
Hughes-Stovin syndrome |
|
|
MONDO:0864848 |
autosomal recessive hypohidrotic ectodermal dysplasia |
GARD:2057 |
MONDO:equivalentTo |
Autosomal recessive hypohidrotic ectodermal dysplasia |
|
|
MONDO:0864849 |
fusariosis |
GARD:20570 |
MONDO:equivalentTo |
Fusariosis |
|
|
MONDO:0864850 |
multiple sclerosis variant |
GARD:20571 |
MONDO:equivalentTo |
Multiple sclerosis variant |
|
|
MONDO:0864851 |
marburg acute multiple sclerosis |
GARD:20572 |
MONDO:equivalentTo |
Marburg acute multiple sclerosis |
|
|
MONDO:0864852 |
heart-hand syndrome |
GARD:20573 |
MONDO:equivalentTo |
Heart-hand syndrome |
|
|
MONDO:0864853 |
genetic dermis elastic tissue disorder |
GARD:20574 |
MONDO:equivalentTo |
Genetic dermis elastic tissue disorder |
|
|
MONDO:0864854 |
acquired dermis elastic tissue disorder |
GARD:20575 |
MONDO:equivalentTo |
Acquired dermis elastic tissue disorder |
|
|
MONDO:0864855 |
acquired dermis elastic tissue disorder with decreased elastic tissue |
GARD:20576 |
MONDO:equivalentTo |
Acquired dermis elastic tissue disorder with decreased elastic tissue |
|
|
MONDO:0864856 |
acquired dermis elastic tissue disorder with increased elastic tissue |
GARD:20577 |
MONDO:equivalentTo |
Acquired dermis elastic tissue disorder with increased elastic tissue |
|
|
MONDO:0864857 |
late-onset focal dermal elastosis |
GARD:20578 |
MONDO:equivalentTo |
Late-onset focal dermal elastosis |
|
|
MONDO:0864858 |
linear focal elastosis |
GARD:20579 |
MONDO:equivalentTo |
Linear focal elastosis |
|
|
MONDO:0864859 |
elastofibroma dorsi |
GARD:20580 |
MONDO:equivalentTo |
Elastofibroma dorsi |
|
|
MONDO:0864860 |
acquired pseudoxanthoma elasticum |
GARD:20581 |
MONDO:equivalentTo |
Acquired pseudoxanthoma elasticum |
|
|
MONDO:0864861 |
elastoma |
GARD:20582 |
MONDO:equivalentTo |
Elastoma |
|
|
MONDO:0864862 |
papular elastorrhexis |
GARD:20583 |
MONDO:equivalentTo |
Papular elastorrhexis |
|
|
MONDO:0864863 |
primary anetoderma |
GARD:20584 |
MONDO:equivalentTo |
Primary anetoderma |
|
|
MONDO:0864864 |
familial anetoderma |
GARD:20585 |
MONDO:equivalentTo |
Familial anetoderma |
|
|
MONDO:0864865 |
acquired cutis laxa |
GARD:20586 |
MONDO:equivalentTo |
Acquired cutis laxa |
|
|
MONDO:0864866 |
white fibrous papulosis of the neck |
GARD:20587 |
MONDO:equivalentTo |
White fibrous papulosis of the neck |
|
|
MONDO:0864867 |
pseudoxanthoma elasticum-like papillary dermal elastolysis |
GARD:20588 |
MONDO:equivalentTo |
Pseudoxanthoma elasticum-like papillary dermal elastolysis |
|
|
MONDO:0864868 |
mid-dermal elastolysis |
GARD:20589 |
MONDO:equivalentTo |
Mid-dermal elastolysis |
|
|
MONDO:0864869 |
autoimmune hemolytic anemia, cold type |
GARD:20590 |
MONDO:equivalentTo |
Autoimmune hemolytic anemia, cold type |
|
|
MONDO:0864870 |
foodborne botulism |
GARD:20591 |
MONDO:equivalentTo |
Foodborne botulism |
|
|
MONDO:0864871 |
virus-associated trichodysplasia spinulosa |
GARD:20592 |
MONDO:equivalentTo |
Virus-associated trichodysplasia spinulosa |
|
|
MONDO:0864872 |
ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome |
GARD:20593 |
MONDO:equivalentTo |
Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome |
|
|
MONDO:0864873 |
polyvalvular heart disease syndrome |
GARD:20594 |
MONDO:equivalentTo |
Polyvalvular heart disease syndrome |
|
|
MONDO:0864874 |
5q35 microduplication syndrome |
GARD:20595 |
MONDO:equivalentTo |
5q35 microduplication syndrome |
|
|
MONDO:0864875 |
syndromic agammaglobulinemia |
GARD:20596 |
MONDO:equivalentTo |
Syndromic agammaglobulinemia |
|
|
MONDO:0864876 |
toxin-mediated infectious botulism |
GARD:20597 |
MONDO:equivalentTo |
Toxin-mediated infectious botulism |
|
|
MONDO:0864877 |
high-grade dysplasia in patients with barrett esophagus |
GARD:20598 |
MONDO:equivalentTo |
High-grade dysplasia in patients with Barrett esophagus |
|
|
MONDO:0864878 |
drug-induced lupus erythematosus |
GARD:20599 |
MONDO:equivalentTo |
Drug-induced lupus erythematosus |
|
|
MONDO:0864879 |
nephronophthisis |
GARD:206 |
MONDO:equivalentTo |
Nephronophthisis |
|
|
MONDO:0864880 |
beckwith-wiedemann syndrome due to imprinting defect of 11p15 |
GARD:20600 |
MONDO:equivalentTo |
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 |
|
|
MONDO:0864881 |
beckwith-wiedemann syndrome due to 11p15 microdeletion |
GARD:20601 |
MONDO:equivalentTo |
Beckwith-Wiedemann syndrome due to 11p15 microdeletion |
|
|
MONDO:0864882 |
beckwith-wiedemann syndrome due to 11p15 translocation/inversion |
GARD:20602 |
MONDO:equivalentTo |
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion |
|
|
MONDO:0864883 |
silver-russell syndrome due to 7p11.2p13 microduplication |
GARD:20603 |
MONDO:equivalentTo |
Silver-Russell syndrome due to 7p11.2p13 microduplication |
|
|
MONDO:0864884 |
silver-russell syndrome due to an imprinting defect of 11p15 |
GARD:20604 |
MONDO:equivalentTo |
Silver-Russell syndrome due to an imprinting defect of 11p15 |
|
|
MONDO:0864885 |
silver-russell syndrome due to 11p15 microduplication |
GARD:20605 |
MONDO:equivalentTo |
Silver-Russell syndrome due to 11p15 microduplication |
|
|
MONDO:0864886 |
silver-russell syndrome due to maternal uniparental disomy of chromosome 11 |
GARD:20606 |
MONDO:equivalentTo |
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 |
|
|
MONDO:0864887 |
beta-thalassemia associated with another hemoglobin anomaly |
GARD:20607 |
MONDO:equivalentTo |
Beta-thalassemia associated with another hemoglobin anomaly |
|
|
MONDO:0864888 |
hemoglobin c-beta-thalassemia syndrome |
GARD:20608 |
MONDO:equivalentTo |
Hemoglobin C-beta-thalassemia syndrome |
|
|
MONDO:0864889 |
hemoglobin e-beta-thalassemia syndrome |
GARD:20609 |
MONDO:equivalentTo |
Hemoglobin E-beta-thalassemia syndrome |
|
|
MONDO:0864890 |
beta-thalassemia with other manifestations |
GARD:20610 |
MONDO:equivalentTo |
Beta-thalassemia with other manifestations |
|
|
MONDO:0864891 |
variant of guillain-barré syndrome |
GARD:20611 |
MONDO:equivalentTo |
Variant of Guillain-Barré syndrome |
|
|
MONDO:0864892 |
regional variant of guillain-barré syndrome |
GARD:20612 |
MONDO:equivalentTo |
Regional variant of Guillain-Barré syndrome |
|
|
MONDO:0864893 |
functional variant of guillain-barré syndrome |
GARD:20613 |
MONDO:equivalentTo |
Functional variant of Guillain-Barré syndrome |
|
|
MONDO:0864894 |
pharyngeal-cervical-brachial variant of guillain-barré syndrome |
GARD:20614 |
MONDO:equivalentTo |
Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome |
|
|
MONDO:0864895 |
paraparetic variant of guillain-barré syndrome |
GARD:20615 |
MONDO:equivalentTo |
Paraparetic variant of Guillain-Barré syndrome |
|
|
MONDO:0864896 |
acute pure sensory neuropathy |
GARD:20616 |
MONDO:equivalentTo |
Acute pure sensory neuropathy |
|
|
MONDO:0864897 |
acute pandysautonomia |
GARD:20617 |
MONDO:equivalentTo |
Acute pandysautonomia |
|
|
MONDO:0864898 |
acute sensory ataxic neuropathy |
GARD:20618 |
MONDO:equivalentTo |
Acute sensory ataxic neuropathy |
|
|
MONDO:0864899 |
congenital erosive and vesicular dermatosis |
GARD:20619 |
MONDO:equivalentTo |
Congenital erosive and vesicular dermatosis |
|
|
MONDO:0864900 |
primary unilateral adrenal hyperplasia |
GARD:20620 |
MONDO:equivalentTo |
Primary unilateral adrenal hyperplasia |
|
|
MONDO:0864901 |
adrenocortical carcinoma with pure aldosterone hypersecretion |
GARD:20621 |
MONDO:equivalentTo |
Adrenocortical carcinoma with pure aldosterone hypersecretion |
|
|
MONDO:0864902 |
ectopic aldosterone-producing tumor |
GARD:20622 |
MONDO:equivalentTo |
Ectopic aldosterone-producing tumor |
|
|
MONDO:0864903 |
rare surgically correctable form of primary aldosteronism |
GARD:20623 |
MONDO:equivalentTo |
Rare surgically correctable form of primary aldosteronism |
|
|
MONDO:0864904 |
rare non surgically correctable form of primary aldosteronism |
GARD:20624 |
MONDO:equivalentTo |
Rare non surgically correctable form of primary aldosteronism |
|
|
MONDO:0864905 |
epibulbar lipodermoid-preauricular appendage-polythelia syndrome |
GARD:20625 |
MONDO:equivalentTo |
Epibulbar lipodermoid-preauricular appendage-polythelia syndrome |
|
|
MONDO:0864906 |
infectious embryofetopathy |
GARD:20626 |
MONDO:equivalentTo |
Infectious embryofetopathy |
|
|
MONDO:0864907 |
syndrome with alpha-thalassemia as a major feature |
GARD:20627 |
MONDO:equivalentTo |
Syndrome with alpha-thalassemia as a major feature |
|
|
MONDO:0864908 |
rare genetic vascular disease |
GARD:20628 |
MONDO:equivalentTo |
Rare genetic vascular disease |
|
|
MONDO:0864909 |
congenital vascular bone syndrome |
GARD:20629 |
MONDO:equivalentTo |
Congenital vascular bone syndrome |
|
|
MONDO:0864910 |
familial hyperaldosteronism |
GARD:20630 |
MONDO:equivalentTo |
Familial hyperaldosteronism |
|
|
MONDO:0864911 |
aapoaii amyloidosis |
GARD:20631 |
MONDO:equivalentTo |
AApoAII amyloidosis |
|
|
MONDO:0864912 |
infundibulo-neurohypophysitis |
GARD:20632 |
MONDO:equivalentTo |
Infundibulo-neurohypophysitis |
|
|
MONDO:0864913 |
lymphoproliferative syndrome |
GARD:20633 |
MONDO:equivalentTo |
Lymphoproliferative syndrome |
|
|
MONDO:0864914 |
hypotonia-cystinuria type 1 syndrome |
GARD:20634 |
MONDO:equivalentTo |
Hypotonia-cystinuria type 1 syndrome |
|
|
MONDO:0864915 |
congenital secondary polycythemia |
GARD:20635 |
MONDO:equivalentTo |
Congenital secondary polycythemia |
|
|
MONDO:0864916 |
acquired secondary polycythemia |
GARD:20636 |
MONDO:equivalentTo |
Acquired secondary polycythemia |
|
|
MONDO:0864917 |
ileal pouch anal anastomosis related faecal incontinence |
GARD:20637 |
MONDO:equivalentTo |
Ileal pouch anal anastomosis related faecal incontinence |
|
|
MONDO:0864918 |
megacystis-megaureter syndrome |
GARD:20638 |
MONDO:equivalentTo |
Megacystis-megaureter syndrome |
|
|
MONDO:0864919 |
primary megaureter, adult-onset form |
GARD:20639 |
MONDO:equivalentTo |
Primary megaureter, adult-onset form |
|
|
MONDO:0864920 |
congenital primary megaureter, obstructed form |
GARD:20640 |
MONDO:equivalentTo |
Congenital primary megaureter, obstructed form |
|
|
MONDO:0864921 |
congenital primary megaureter, refluxing form |
GARD:20641 |
MONDO:equivalentTo |
Congenital primary megaureter, refluxing form |
|
|
MONDO:0864922 |
congenital primary megaureter, nonrefluxing and unobstructed form |
GARD:20642 |
MONDO:equivalentTo |
Congenital primary megaureter, nonrefluxing and unobstructed form |
|
|
MONDO:0864923 |
isolated congenital hypogonadotropic hypogonadism |
GARD:20643 |
MONDO:equivalentTo |
Isolated congenital hypogonadotropic hypogonadism |
|
|
MONDO:0864924 |
neonatal iodine exposure |
GARD:20644 |
MONDO:equivalentTo |
Neonatal iodine exposure |
|
|
MONDO:0864925 |
transient congenital hypothyroidism due to maternal factor |
GARD:20645 |
MONDO:equivalentTo |
Transient congenital hypothyroidism due to maternal factor |
|
|
MONDO:0864926 |
transient congenital hypothyroidism due to neonatal factor |
GARD:20646 |
MONDO:equivalentTo |
Transient congenital hypothyroidism due to neonatal factor |
|
|
MONDO:0864927 |
progressive supranuclear palsy-pure akinesia with gait freezing syndrome |
GARD:20647 |
MONDO:equivalentTo |
Progressive supranuclear palsy-pure akinesia with gait freezing syndrome |
|
|
MONDO:0864928 |
progressive supranuclear palsy-corticobasal syndrome |
GARD:20648 |
MONDO:equivalentTo |
Progressive supranuclear palsy-corticobasal syndrome |
|
|
MONDO:0864929 |
progressive supranuclear palsy-progressive non-fluent aphasia syndrome |
GARD:20649 |
MONDO:equivalentTo |
Progressive supranuclear palsy-progressive non-fluent aphasia syndrome |
|
|
MONDO:0864930 |
syndromic obesity |
GARD:20650 |
MONDO:equivalentTo |
Syndromic obesity |
|
|
MONDO:0864931 |
de novo thrombotic microangiopathy after kidney transplantation |
GARD:20651 |
MONDO:equivalentTo |
De novo thrombotic microangiopathy after kidney transplantation |
|
|
MONDO:0864932 |
biliary atresia with splenic malformation syndrome |
GARD:20652 |
MONDO:equivalentTo |
Biliary atresia with splenic malformation syndrome |
|
|
MONDO:0864933 |
infantile mercury poisoning |
GARD:20653 |
MONDO:equivalentTo |
Infantile mercury poisoning |
|
|
MONDO:0864934 |
sporadic adult-onset ataxia of unknown etiology |
GARD:20654 |
MONDO:equivalentTo |
Sporadic adult-onset ataxia of unknown etiology |
|
|
MONDO:0864935 |
non-hereditary degenerative ataxia |
GARD:20655 |
MONDO:equivalentTo |
Non-hereditary degenerative ataxia |
|
|
MONDO:0864936 |
acquired ataxia |
GARD:20656 |
MONDO:equivalentTo |
Acquired ataxia |
|
|
MONDO:0864937 |
inhalational anthrax |
GARD:20657 |
MONDO:equivalentTo |
Inhalational anthrax |
|
|
MONDO:0864938 |
autosomal recessive secondary polycythemia not associated with vhl gene |
GARD:20658 |
MONDO:equivalentTo |
Autosomal recessive secondary polycythemia not associated with VHL gene |
|
|
MONDO:0864939 |
acute neonatal citrullinemia type i |
GARD:20659 |
MONDO:equivalentTo |
Acute neonatal citrullinemia type I |
|
|
MONDO:0864940 |
adult-onset citrullinemia type i |
GARD:20660 |
MONDO:equivalentTo |
Adult-onset citrullinemia type I |
|
|
MONDO:0864941 |
citrin deficiency |
GARD:20661 |
MONDO:equivalentTo |
Citrin deficiency |
|
|
MONDO:0864942 |
prenatal benign hypophosphatasia |
GARD:20662 |
MONDO:equivalentTo |
Prenatal benign hypophosphatasia |
|
|
MONDO:0864943 |
inflammatory myopathy with abundant macrophages |
GARD:20663 |
MONDO:equivalentTo |
Inflammatory myopathy with abundant macrophages |
|
|
MONDO:0864944 |
idiopathic eosinophilic myositis |
GARD:20664 |
MONDO:equivalentTo |
Idiopathic eosinophilic myositis |
|
|
MONDO:0864945 |
x-linked cerebellar ataxia |
GARD:20665 |
MONDO:equivalentTo |
X-linked cerebellar ataxia |
|
|
MONDO:0864946 |
autosomal recessive ataxia due to pex10 deficiency |
GARD:20666 |
MONDO:equivalentTo |
Autosomal recessive ataxia due to PEX10 deficiency |
|
|
MONDO:0864947 |
primary hypertrophic osteoarthropathy |
GARD:20667 |
MONDO:equivalentTo |
Primary hypertrophic osteoarthropathy |
|
|
MONDO:0864948 |
rare deficiency anemia |
GARD:20668 |
MONDO:equivalentTo |
Rare deficiency anemia |
|
|
MONDO:0864949 |
constitutional deficiency anemia |
GARD:20669 |
MONDO:equivalentTo |
Constitutional deficiency anemia |
|
|
MONDO:0864950 |
rare acquired deficiency anemia |
GARD:20670 |
MONDO:equivalentTo |
Rare acquired deficiency anemia |
|
|
MONDO:0864951 |
rare hemorrhagic disorder |
GARD:20671 |
MONDO:equivalentTo |
Rare hemorrhagic disorder |
|
|
MONDO:0864952 |
rare hemorrhagic disorder due to a coagulation factors defect |
GARD:20672 |
MONDO:equivalentTo |
Rare hemorrhagic disorder due to a coagulation factors defect |
|
|
MONDO:0864953 |
rare hemorrhagic disorder due to a platelet anomaly |
GARD:20673 |
MONDO:equivalentTo |
Rare hemorrhagic disorder due to a platelet anomaly |
|
|
MONDO:0864954 |
isolated delta-storage pool disease |
GARD:20674 |
MONDO:equivalentTo |
Isolated delta-storage pool disease |
|
|
MONDO:0864955 |
rare hemorrhagic disorder due to an acquired platelet anomaly |
GARD:20675 |
MONDO:equivalentTo |
Rare hemorrhagic disorder due to an acquired platelet anomaly |
|
|
MONDO:0864956 |
rare thrombotic disorder due to a coagulation factors defect |
GARD:20676 |
MONDO:equivalentTo |
Rare thrombotic disorder due to a coagulation factors defect |
|
|
MONDO:0864957 |
rare thrombotic disorder due to a constitutional coagulation factors defect |
GARD:20677 |
MONDO:equivalentTo |
Rare thrombotic disorder due to a constitutional coagulation factors defect |
|
|
MONDO:0864958 |
rare thrombotic disorder due to an acquired coagulation factors defect |
GARD:20678 |
MONDO:equivalentTo |
Rare thrombotic disorder due to an acquired coagulation factors defect |
|
|
MONDO:0864959 |
rare thrombotic disorder due to a platelet anomaly |
GARD:20679 |
MONDO:equivalentTo |
Rare thrombotic disorder due to a platelet anomaly |
|
|
MONDO:0864960 |
ectrodactyly-polydactyly syndrome |
GARD:2068 |
MONDO:equivalentTo |
Ectrodactyly-polydactyly syndrome |
|
|
MONDO:0864961 |
rare thrombotic disorder due to a constitutional platelet anomaly |
GARD:20680 |
MONDO:equivalentTo |
Rare thrombotic disorder due to a constitutional platelet anomaly |
|
|
MONDO:0864962 |
rare thrombotic disorder due to an acquired platelet anomaly |
GARD:20681 |
MONDO:equivalentTo |
Rare thrombotic disorder due to an acquired platelet anomaly |
|
|
MONDO:0864963 |
genetic polycythemia |
GARD:20682 |
MONDO:equivalentTo |
Genetic polycythemia |
|
|
MONDO:0864964 |
serpinopathy |
GARD:20683 |
MONDO:equivalentTo |
Serpinopathy |
|
|
MONDO:0864965 |
serpinopathy with toxic serpin polymerization |
GARD:20684 |
MONDO:equivalentTo |
Serpinopathy with toxic serpin polymerization |
|
|
MONDO:0864966 |
serpinopathy with loss of serpin function |
GARD:20685 |
MONDO:equivalentTo |
Serpinopathy with loss of serpin function |
|
|
MONDO:0864967 |
autosomal dominant optic atrophy and peripheral neuropathy |
GARD:20686 |
MONDO:equivalentTo |
Autosomal dominant optic atrophy and peripheral neuropathy |
|
|
MONDO:0864968 |
polymicrogyria with optic nerve hypoplasia |
GARD:20687 |
MONDO:equivalentTo |
Polymicrogyria with optic nerve hypoplasia |
|
|
MONDO:0864969 |
paternal uniparental disomy of chromosome 1 |
GARD:20688 |
MONDO:equivalentTo |
Paternal uniparental disomy of chromosome 1 |
|
|
MONDO:0864970 |
maternal uniparental disomy of chromosome 1 |
GARD:20689 |
MONDO:equivalentTo |
Maternal uniparental disomy of chromosome 1 |
|
|
MONDO:0864971 |
2q31.1 microdeletion syndrome |
GARD:20690 |
MONDO:equivalentTo |
2q31.1 microdeletion syndrome |
|
|
MONDO:0864972 |
6p22 microdeletion syndrome |
GARD:20691 |
MONDO:equivalentTo |
6p22 microdeletion syndrome |
|
|
MONDO:0864973 |
7q31 microdeletion syndrome |
GARD:20692 |
MONDO:equivalentTo |
7q31 microdeletion syndrome |
|
|
MONDO:0864974 |
8p11.2 deletion syndrome |
GARD:20693 |
MONDO:equivalentTo |
8p11.2 deletion syndrome |
|
|
MONDO:0864975 |
infantile onset panniculitis with uveitis and systemic granulomatosis |
GARD:20694 |
MONDO:equivalentTo |
Infantile onset panniculitis with uveitis and systemic granulomatosis |
|
|
MONDO:0864976 |
idiopathic recurrent pericarditis |
GARD:20695 |
MONDO:equivalentTo |
Idiopathic recurrent pericarditis |
|
|
MONDO:0864977 |
overlapping connective tissue disease |
GARD:20696 |
MONDO:equivalentTo |
Overlapping connective tissue disease |
|
|
MONDO:0864978 |
drug-induced vasculitis |
GARD:20697 |
MONDO:equivalentTo |
Drug-induced vasculitis |
|
|
MONDO:0864979 |
unclassified vasculitis |
GARD:20698 |
MONDO:equivalentTo |
Unclassified vasculitis |
|
|
MONDO:0864980 |
unexplained long-lasting fever/inflammatory syndrome |
GARD:20699 |
MONDO:equivalentTo |
Unexplained long-lasting fever/inflammatory syndrome |
|
|
MONDO:0864981 |
alveolar echinococcosis |
GARD:207 |
MONDO:equivalentTo |
Alveolar echinococcosis |
|
|
MONDO:0864982 |
sickle cell-hemoglobin e disease syndrome |
GARD:20700 |
MONDO:equivalentTo |
Sickle cell-hemoglobin E disease syndrome |
|
|
MONDO:0864983 |
toxic or drug-related embryofetopathy |
GARD:20701 |
MONDO:equivalentTo |
Toxic or drug-related embryofetopathy |
|
|
MONDO:0864984 |
maternal disease-related embryofetopathy |
GARD:20702 |
MONDO:equivalentTo |
Maternal disease-related embryofetopathy |
|
|
MONDO:0864985 |
rare tumor of neuroepithelial tissue |
GARD:20703 |
MONDO:equivalentTo |
Rare tumor of neuroepithelial tissue |
|
|
MONDO:0864986 |
high-grade astrocytoma |
GARD:20704 |
MONDO:equivalentTo |
High-grade astrocytoma |
|
|
MONDO:0864987 |
giant cell glioblastoma |
GARD:20705 |
MONDO:equivalentTo |
Giant cell glioblastoma |
|
|
MONDO:0864988 |
low-grade astrocytoma |
GARD:20706 |
MONDO:equivalentTo |
Low-grade astrocytoma |
|
|
MONDO:0864989 |
protoplasmic astrocytoma |
GARD:20707 |
MONDO:equivalentTo |
Protoplasmic astrocytoma |
|
|
MONDO:0864990 |
fibrillary astrocytoma |
GARD:20708 |
MONDO:equivalentTo |
Fibrillary astrocytoma |
|
|
MONDO:0864991 |
gemistocytic astrocytoma |
GARD:20709 |
MONDO:equivalentTo |
Gemistocytic astrocytoma |
|
|
MONDO:0864992 |
blepharo-cheilo-odontic syndrome |
GARD:2071 |
MONDO:equivalentTo |
Blepharo-cheilo-odontic syndrome |
|
|
MONDO:0864993 |
pilomyxoid astrocytoma |
GARD:20710 |
MONDO:equivalentTo |
Pilomyxoid astrocytoma |
|
|
MONDO:0864994 |
pituicytoma |
GARD:20711 |
MONDO:equivalentTo |
Pituicytoma |
|
|
MONDO:0864995 |
oligoastrocytic tumor |
GARD:20712 |
MONDO:equivalentTo |
Oligoastrocytic tumor |
|
|
MONDO:0864996 |
glial tumor of neuroepithelial tissue with unknown origin |
GARD:20713 |
MONDO:equivalentTo |
Glial tumor of neuroepithelial tissue with unknown origin |
|
|
MONDO:0864997 |
angiocentric glioma |
GARD:20714 |
MONDO:equivalentTo |
Angiocentric glioma |
|
|
MONDO:0864998 |
chordoid glioma |
GARD:20715 |
MONDO:equivalentTo |
Chordoid glioma |
|
|
MONDO:0864999 |
embryonal tumor of neuroepithelial tissue |
GARD:20716 |
MONDO:equivalentTo |
Embryonal tumor of neuroepithelial tissue |
|
|
MONDO:0865000 |
anaplastic/large cell medulloblastoma |
GARD:20717 |
MONDO:equivalentTo |
Anaplastic/large cell medulloblastoma |
|
|
MONDO:0865001 |
central nervous system embryonal tumor |
GARD:20718 |
MONDO:equivalentTo |
Central nervous system embryonal tumor |
|
|
MONDO:0865002 |
ganglioneuroblastoma |
GARD:20719 |
MONDO:equivalentTo |
Ganglioneuroblastoma |
|
|
MONDO:0865003 |
ependymoblastoma |
GARD:20720 |
MONDO:equivalentTo |
Ependymoblastoma |
|
|
MONDO:0865004 |
medulloepithelioma of the central nervous system |
GARD:20721 |
MONDO:equivalentTo |
Medulloepithelioma of the central nervous system |
|
|
MONDO:0865005 |
choroid plexus tumor |
GARD:20722 |
MONDO:equivalentTo |
Choroid plexus tumor |
|
|
MONDO:0865006 |
atypical papilloma of choroid plexus |
GARD:20723 |
MONDO:equivalentTo |
Atypical papilloma of choroid plexus |
|
|
MONDO:0865007 |
pineal tumor of neuroepithelial tissue |
GARD:20724 |
MONDO:equivalentTo |
Pineal tumor of neuroepithelial tissue |
|
|
MONDO:0865008 |
papillary tumor of the pineal region |
GARD:20725 |
MONDO:equivalentTo |
Papillary tumor of the pineal region |
|
|
MONDO:0865009 |
neuronal tumor |
GARD:20726 |
MONDO:equivalentTo |
Neuronal tumor |
|
|
MONDO:0865010 |
extraventricular neurocytoma |
GARD:20727 |
MONDO:equivalentTo |
Extraventricular neurocytoma |
|
|
MONDO:0865011 |
mixed neuronal-glial tumor |
GARD:20728 |
MONDO:equivalentTo |
Mixed neuronal-glial tumor |
|
|
MONDO:0865012 |
desmoplastic infantile astrocytoma/ganglioglioma |
GARD:20729 |
MONDO:equivalentTo |
Desmoplastic infantile astrocytoma/ganglioglioma |
|
|
MONDO:0865013 |
papillary glioneuronal tumor |
GARD:20730 |
MONDO:equivalentTo |
Papillary glioneuronal tumor |
|
|
MONDO:0865014 |
ganglioneuroma |
GARD:20731 |
MONDO:equivalentTo |
Ganglioneuroma |
|
|
MONDO:0865015 |
primary germ cell tumor of central nervous system |
GARD:20732 |
MONDO:equivalentTo |
Primary germ cell tumor of central nervous system |
|
|
MONDO:0865016 |
yolk sac tumor of central nervous system |
GARD:20733 |
MONDO:equivalentTo |
Yolk sac tumor of central nervous system |
|
|
MONDO:0865017 |
choriocarcinoma of the central nervous system |
GARD:20734 |
MONDO:equivalentTo |
Choriocarcinoma of the central nervous system |
|
|
MONDO:0865018 |
teratoma of the central nervous system |
GARD:20735 |
MONDO:equivalentTo |
Teratoma of the central nervous system |
|
|
MONDO:0865019 |
mixed germ cell tumor of central nervous system |
GARD:20736 |
MONDO:equivalentTo |
Mixed germ cell tumor of central nervous system |
|
|
MONDO:0865020 |
tumor of meninges |
GARD:20737 |
MONDO:equivalentTo |
Tumor of meninges |
|
|
MONDO:0865021 |
primary melanocytic tumor of central nervous system |
GARD:20738 |
MONDO:equivalentTo |
Primary melanocytic tumor of central nervous system |
|
|
MONDO:0865022 |
diffuse leptomeningeal melanocytosis |
GARD:20739 |
MONDO:equivalentTo |
Diffuse leptomeningeal melanocytosis |
|
|
MONDO:0865023 |
edinburgh malformation syndrome |
GARD:2074 |
MONDO:equivalentTo |
Edinburgh malformation syndrome |
|
|
MONDO:0865024 |
meningeal melanocytoma |
GARD:20740 |
MONDO:equivalentTo |
Meningeal melanocytoma |
|
|
MONDO:0865025 |
malignant peripheral nerve sheath tumor with perineurial differentiation |
GARD:20741 |
MONDO:equivalentTo |
Malignant peripheral nerve sheath tumor with perineurial differentiation |
|
|
MONDO:0865026 |
inherited nervous system cancer-predisposing syndrome |
GARD:20742 |
MONDO:equivalentTo |
Inherited nervous system cancer-predisposing syndrome |
|
|
MONDO:0865027 |
malignant triton tumor |
GARD:20743 |
MONDO:equivalentTo |
Malignant triton tumor |
|
|
MONDO:0865028 |
rare cutaneous lichen planus |
GARD:20744 |
MONDO:equivalentTo |
Rare cutaneous lichen planus |
|
|
MONDO:0865029 |
rare mucosal lichen planus |
GARD:20745 |
MONDO:equivalentTo |
Rare mucosal lichen planus |
|
|
MONDO:0865030 |
inhalational botulism |
GARD:20746 |
MONDO:equivalentTo |
Inhalational botulism |
|
|
MONDO:0865031 |
iatrogenic botulism |
GARD:20747 |
MONDO:equivalentTo |
Iatrogenic botulism |
|
|
MONDO:0865032 |
gestational trophoblastic disease |
GARD:20748 |
MONDO:equivalentTo |
Gestational trophoblastic disease |
|
|
MONDO:0865033 |
partial hydatidiform mole |
GARD:20749 |
MONDO:equivalentTo |
Partial hydatidiform mole |
|
|
MONDO:0865034 |
epithelioid trophoblastic tumor |
GARD:20750 |
MONDO:equivalentTo |
Epithelioid trophoblastic tumor |
|
|
MONDO:0865035 |
genetic hyperferritinemia without iron overload |
GARD:20751 |
MONDO:equivalentTo |
Genetic hyperferritinemia without iron overload |
|
|
MONDO:0865036 |
pyruvate metabolism disorder |
GARD:20752 |
MONDO:equivalentTo |
Pyruvate metabolism disorder |
|
|
MONDO:0865037 |
tricarboxylic acid cycle disorder |
GARD:20753 |
MONDO:equivalentTo |
Tricarboxylic acid cycle disorder |
|
|
MONDO:0865038 |
mitochondrial oxidative phosphorylation disorder due to mitochondrial dna anomalies |
GARD:20754 |
MONDO:equivalentTo |
Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies |
|
|
MONDO:0865039 |
mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial dna |
GARD:20755 |
MONDO:equivalentTo |
Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA |
|
|
MONDO:0865040 |
mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial dna |
GARD:20756 |
MONDO:equivalentTo |
Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA |
|
|
MONDO:0865041 |
mitochondrial dna-related mitochondrial myopathy |
GARD:20757 |
MONDO:equivalentTo |
Mitochondrial DNA-related mitochondrial myopathy |
|
|
MONDO:0865042 |
multiple mitochondrial dna deletion syndrome |
GARD:20758 |
MONDO:equivalentTo |
Multiple mitochondrial DNA deletion syndrome |
|
|
MONDO:0865043 |
ataxia neuropathy spectrum |
GARD:20759 |
MONDO:equivalentTo |
Ataxia neuropathy spectrum |
|
|
MONDO:0865044 |
eec syndrome |
GARD:2076 |
MONDO:equivalentTo |
EEC syndrome |
|
|
MONDO:0865045 |
mitochondrial oxidative phosphorylation disorder with no known mechanism |
GARD:20760 |
MONDO:equivalentTo |
Mitochondrial oxidative phosphorylation disorder with no known mechanism |
|
|
MONDO:0865046 |
mitochondrial membrane transport disorder |
GARD:20761 |
MONDO:equivalentTo |
Mitochondrial membrane transport disorder |
|
|
MONDO:0865047 |
mitochondrial substrate carrier disorder |
GARD:20762 |
MONDO:equivalentTo |
Mitochondrial substrate carrier disorder |
|
|
MONDO:0865048 |
mitochondrial protein import disorder |
GARD:20763 |
MONDO:equivalentTo |
Mitochondrial protein import disorder |
|
|
MONDO:0865049 |
unspecified mitochondrial disorder |
GARD:20764 |
MONDO:equivalentTo |
Unspecified mitochondrial disorder |
|
|
MONDO:0865050 |
exercise intolerance with lactic acidosis |
GARD:20765 |
MONDO:equivalentTo |
Exercise intolerance with lactic acidosis |
|
|
MONDO:0865051 |
isolated oxidative phosphorylation complex disorder |
GARD:20766 |
MONDO:equivalentTo |
Isolated oxidative phosphorylation complex disorder |
|
|
MONDO:0865052 |
mitochondrial dna-related dystonia |
GARD:20767 |
MONDO:equivalentTo |
Mitochondrial DNA-related dystonia |
|
|
MONDO:0865053 |
pure mitochondrial myopathy |
GARD:20768 |
MONDO:equivalentTo |
Pure mitochondrial myopathy |
|
|
MONDO:0865054 |
mitochondrial dna depletion syndrome, hepatocerebral form |
GARD:20769 |
MONDO:equivalentTo |
Mitochondrial DNA depletion syndrome, hepatocerebral form |
|
|
MONDO:0865055 |
distal 7q11.23 microduplication syndrome |
GARD:20770 |
MONDO:equivalentTo |
Distal 7q11.23 microduplication syndrome |
|
|
MONDO:0865056 |
foxg1 syndrome due to 14q12 microdeletion |
GARD:20771 |
MONDO:equivalentTo |
FOXG1 syndrome due to 14q12 microdeletion |
|
|
MONDO:0865057 |
16p11.2p12.2 microduplication syndrome |
GARD:20772 |
MONDO:equivalentTo |
16p11.2p12.2 microduplication syndrome |
|
|
MONDO:0865058 |
14q11.2 microduplication syndrome |
GARD:20773 |
MONDO:equivalentTo |
14q11.2 microduplication syndrome |
|
|
MONDO:0865059 |
16p13.11 microdeletion syndrome |
GARD:20774 |
MONDO:equivalentTo |
16p13.11 microdeletion syndrome |
|
|
MONDO:0865060 |
16p13.11 microduplication syndrome |
GARD:20775 |
MONDO:equivalentTo |
16p13.11 microduplication syndrome |
|
|
MONDO:0865061 |
distal 17p13.3 microdeletion syndrome |
GARD:20776 |
MONDO:equivalentTo |
Distal 17p13.3 microdeletion syndrome |
|
|
MONDO:0865062 |
paternal 20q13.2q13.3 microdeletion syndrome |
GARD:20777 |
MONDO:equivalentTo |
Paternal 20q13.2q13.3 microdeletion syndrome |
|
|
MONDO:0865063 |
20q13.33 microdeletion syndrome |
GARD:20778 |
MONDO:equivalentTo |
20q13.33 microdeletion syndrome |
|
|
MONDO:0865064 |
21q22.11q22.12 microdeletion syndrome |
GARD:20779 |
MONDO:equivalentTo |
21q22.11q22.12 microdeletion syndrome |
|
|
MONDO:0865065 |
eem syndrome |
GARD:2078 |
MONDO:equivalentTo |
EEM syndrome |
|
|
MONDO:0865066 |
distal 22q11.2 microduplication syndrome |
GARD:20780 |
MONDO:equivalentTo |
Distal 22q11.2 microduplication syndrome |
|
|
MONDO:0865067 |
trisomy 1q |
GARD:20781 |
MONDO:equivalentTo |
Trisomy 1q |
|
|
MONDO:0865068 |
atypical norrie disease due to xp11.3 microdeletion |
GARD:20782 |
MONDO:equivalentTo |
Atypical Norrie disease due to Xp11.3 microdeletion |
|
|
MONDO:0865069 |
maternal uniparental disomy of chromosome x |
GARD:20783 |
MONDO:equivalentTo |
Maternal uniparental disomy of chromosome X |
|
|
MONDO:0865070 |
paternal uniparental disomy of chromosome x |
GARD:20784 |
MONDO:equivalentTo |
Paternal uniparental disomy of chromosome X |
|
|
MONDO:0865071 |
ring chromosome y syndrome |
GARD:20785 |
MONDO:equivalentTo |
Ring chromosome Y syndrome |
|
|
MONDO:0865072 |
familial adenomatous polyposis due to 5q22.2 microdeletion |
GARD:20786 |
MONDO:equivalentTo |
Familial adenomatous polyposis due to 5q22.2 microdeletion |
|
|
MONDO:0865073 |
okihiro syndrome due to 20q13 microdeletion |
GARD:20787 |
MONDO:equivalentTo |
Okihiro syndrome due to 20q13 microdeletion |
|
|
MONDO:0865074 |
okihiro syndrome due to a point mutation |
GARD:20788 |
MONDO:equivalentTo |
Okihiro syndrome due to a point mutation |
|
|
MONDO:0865075 |
partial deletion of chromosome 1 |
GARD:20789 |
MONDO:equivalentTo |
Partial deletion of chromosome 1 |
|
|
MONDO:0865076 |
partial deletion of chromosome 2 |
GARD:20790 |
MONDO:equivalentTo |
Partial deletion of chromosome 2 |
|
|
MONDO:0865077 |
partial deletion of chromosome 3 |
GARD:20791 |
MONDO:equivalentTo |
Partial deletion of chromosome 3 |
|
|
MONDO:0865078 |
partial deletion of chromosome 4 |
GARD:20792 |
MONDO:equivalentTo |
Partial deletion of chromosome 4 |
|
|
MONDO:0865079 |
partial deletion of chromosome 5 |
GARD:20793 |
MONDO:equivalentTo |
Partial deletion of chromosome 5 |
|
|
MONDO:0865080 |
partial deletion of chromosome 6 |
GARD:20794 |
MONDO:equivalentTo |
Partial deletion of chromosome 6 |
|
|
MONDO:0865081 |
partial deletion of chromosome 7 |
GARD:20795 |
MONDO:equivalentTo |
Partial deletion of chromosome 7 |
|
|
MONDO:0865082 |
partial deletion of chromosome 8 |
GARD:20796 |
MONDO:equivalentTo |
Partial deletion of chromosome 8 |
|
|
MONDO:0865083 |
partial deletion of chromosome 9 |
GARD:20797 |
MONDO:equivalentTo |
Partial deletion of chromosome 9 |
|
|
MONDO:0865084 |
partial deletion of chromosome 10 |
GARD:20798 |
MONDO:equivalentTo |
Partial deletion of chromosome 10 |
|
|
MONDO:0865085 |
partial deletion of chromosome 11 |
GARD:20799 |
MONDO:equivalentTo |
Partial deletion of chromosome 11 |
|
|
MONDO:0865086 |
partial deletion of the long arm of chromosome 12 |
GARD:20800 |
MONDO:equivalentTo |
Partial deletion of the long arm of chromosome 12 |
|
|
MONDO:0865087 |
partial deletion of chromosome 16 |
GARD:20801 |
MONDO:equivalentTo |
Partial deletion of chromosome 16 |
|
|
MONDO:0865088 |
partial deletion of chromosome 17 |
GARD:20802 |
MONDO:equivalentTo |
Partial deletion of chromosome 17 |
|
|
MONDO:0865089 |
partial deletion of chromosome 18 |
GARD:20803 |
MONDO:equivalentTo |
Partial deletion of chromosome 18 |
|
|
MONDO:0865090 |
partial deletion of chromosome 19 |
GARD:20804 |
MONDO:equivalentTo |
Partial deletion of chromosome 19 |
|
|
MONDO:0865091 |
partial deletion of chromosome 20 |
GARD:20805 |
MONDO:equivalentTo |
Partial deletion of chromosome 20 |
|
|
MONDO:0865092 |
partial deletion of the short arm of chromosome 1 |
GARD:20806 |
MONDO:equivalentTo |
Partial deletion of the short arm of chromosome 1 |
|
|
MONDO:0865093 |
partial deletion of the short arm of chromosome 2 |
GARD:20807 |
MONDO:equivalentTo |
Partial deletion of the short arm of chromosome 2 |
|
|
MONDO:0865094 |
partial deletion of the short arm of chromosome 4 |
GARD:20808 |
MONDO:equivalentTo |
Partial deletion of the short arm of chromosome 4 |
|
|
MONDO:0865095 |
partial deletion of the short arm of chromosome 5 |
GARD:20809 |
MONDO:equivalentTo |
Partial deletion of the short arm of chromosome 5 |
|
|
MONDO:0865096 |
hypermobile ehlers-danlos syndrome |
GARD:2081 |
MONDO:equivalentTo |
Hypermobile Ehlers-Danlos syndrome |
|
|
MONDO:0865097 |
partial deletion of the short arm of chromosome 6 |
GARD:20810 |
MONDO:equivalentTo |
Partial deletion of the short arm of chromosome 6 |
|
|
MONDO:0865098 |
partial deletion of the short arm of chromosome 7 |
GARD:20811 |
MONDO:equivalentTo |
Partial deletion of the short arm of chromosome 7 |
|
|
MONDO:0865099 |
partial deletion of the short arm of chromosome 8 |
GARD:20812 |
MONDO:equivalentTo |
Partial deletion of the short arm of chromosome 8 |
|
|
MONDO:0865100 |
partial deletion of the short arm of chromosome 9 |
GARD:20813 |
MONDO:equivalentTo |
Partial deletion of the short arm of chromosome 9 |
|
|
MONDO:0865101 |
partial deletion of the short arm of chromosome 10 |
GARD:20814 |
MONDO:equivalentTo |
Partial deletion of the short arm of chromosome 10 |
|
|
MONDO:0865102 |
partial deletion of the short arm of chromosome 11 |
GARD:20815 |
MONDO:equivalentTo |
Partial deletion of the short arm of chromosome 11 |
|
|
MONDO:0865103 |
partial deletion of the short arm of chromosome 16 |
GARD:20816 |
MONDO:equivalentTo |
Partial deletion of the short arm of chromosome 16 |
|
|
MONDO:0865104 |
partial monosomy of the short arm of chromosome 17 |
GARD:20817 |
MONDO:equivalentTo |
Partial monosomy of the short arm of chromosome 17 |
|
|
MONDO:0865105 |
partial deletion of the short arm of chromosome 18 |
GARD:20818 |
MONDO:equivalentTo |
Partial deletion of the short arm of chromosome 18 |
|
|
MONDO:0865106 |
partial deletion of the short arm of chromosome 19 |
GARD:20819 |
MONDO:equivalentTo |
Partial deletion of the short arm of chromosome 19 |
|
|
MONDO:0865107 |
vascular ehlers-danlos syndrome |
GARD:2082 |
MONDO:equivalentTo |
Vascular Ehlers-Danlos syndrome |
|
|
MONDO:0865108 |
partial monosomy of the short arm of chromosome 20 |
GARD:20820 |
MONDO:equivalentTo |
Partial monosomy of the short arm of chromosome 20 |
|
|
MONDO:0865109 |
partial deletion of the long arm of chromosome 1 |
GARD:20821 |
MONDO:equivalentTo |
Partial deletion of the long arm of chromosome 1 |
|
|
MONDO:0865110 |
partial deletion of the long arm of chromosome 2 |
GARD:20822 |
MONDO:equivalentTo |
Partial deletion of the long arm of chromosome 2 |
|
|
MONDO:0865111 |
partial deletion of the long arm of chromosome 3 |
GARD:20823 |
MONDO:equivalentTo |
Partial deletion of the long arm of chromosome 3 |
|
|
MONDO:0865112 |
partial deletion of the long arm of chromosome 4 |
GARD:20824 |
MONDO:equivalentTo |
Partial deletion of the long arm of chromosome 4 |
|
|
MONDO:0865113 |
partial deletion of the long arm of chromosome 5 |
GARD:20825 |
MONDO:equivalentTo |
Partial deletion of the long arm of chromosome 5 |
|
|
MONDO:0865114 |
partial deletion of the long arm of chromosome 6 |
GARD:20826 |
MONDO:equivalentTo |
Partial deletion of the long arm of chromosome 6 |
|
|
MONDO:0865115 |
partial deletion of the long arm of chromosome 7 |
GARD:20827 |
MONDO:equivalentTo |
Partial deletion of the long arm of chromosome 7 |
|
|
MONDO:0865116 |
partial deletion of the long arm of chromosome 8 |
GARD:20828 |
MONDO:equivalentTo |
Partial deletion of the long arm of chromosome 8 |
|
|
MONDO:0865117 |
partial monosomy of the long arm of chromosome 9 |
GARD:20829 |
MONDO:equivalentTo |
Partial monosomy of the long arm of chromosome 9 |
|
|
MONDO:0865118 |
kyphoscoliotic ehlers-danlos syndrome |
GARD:2083 |
MONDO:equivalentTo |
Kyphoscoliotic Ehlers-Danlos syndrome |
|
|
MONDO:0865119 |
partial monosomy of the long arm of chromosome 10 |
GARD:20830 |
MONDO:equivalentTo |
Partial monosomy of the long arm of chromosome 10 |
|
|
MONDO:0865120 |
partial deletion of the long arm of chromosome 11 |
GARD:20831 |
MONDO:equivalentTo |
Partial deletion of the long arm of chromosome 11 |
|
|
MONDO:0865121 |
partial deletion of the long arm of chromosome 13 |
GARD:20832 |
MONDO:equivalentTo |
Partial deletion of the long arm of chromosome 13 |
|
|
MONDO:0865122 |
partial deletion of the long arm of chromosome 14 |
GARD:20833 |
MONDO:equivalentTo |
Partial deletion of the long arm of chromosome 14 |
|
|
MONDO:0865123 |
partial deletion of the long arm of chromosome 15 |
GARD:20834 |
MONDO:equivalentTo |
Partial deletion of the long arm of chromosome 15 |
|
|
MONDO:0865124 |
partial deletion of the long arm of chromosome 16 |
GARD:20835 |
MONDO:equivalentTo |
Partial deletion of the long arm of chromosome 16 |
|
|
MONDO:0865125 |
partial deletion of the long arm of chromosome 17 |
GARD:20836 |
MONDO:equivalentTo |
Partial deletion of the long arm of chromosome 17 |
|
|
MONDO:0865126 |
partial deletion of the long arm of chromosome 18 |
GARD:20837 |
MONDO:equivalentTo |
Partial deletion of the long arm of chromosome 18 |
|
|
MONDO:0865127 |
partial deletion of the long arm of chromosome 19 |
GARD:20838 |
MONDO:equivalentTo |
Partial deletion of the long arm of chromosome 19 |
|
|
MONDO:0865128 |
partial deletion of the long arm of chromosome 20 |
GARD:20839 |
MONDO:equivalentTo |
Partial deletion of the long arm of chromosome 20 |
|
|
MONDO:0865129 |
arthrochalasia ehlers-danlos syndrome |
GARD:2084 |
MONDO:equivalentTo |
Arthrochalasia Ehlers-Danlos syndrome |
|
|
MONDO:0865130 |
partial deletion of the long arm of chromosome 21 |
GARD:20840 |
MONDO:equivalentTo |
Partial deletion of the long arm of chromosome 21 |
|
|
MONDO:0865131 |
partial deletion of the long arm of chromosome 22 |
GARD:20841 |
MONDO:equivalentTo |
Partial deletion of the long arm of chromosome 22 |
|
|
MONDO:0865132 |
partial duplication of chromosome 1 |
GARD:20842 |
MONDO:equivalentTo |
Partial duplication of chromosome 1 |
|
|
MONDO:0865133 |
partial duplication of chromosome 2 |
GARD:20843 |
MONDO:equivalentTo |
Partial duplication of chromosome 2 |
|
|
MONDO:0865134 |
partial duplication of chromosome 3 |
GARD:20844 |
MONDO:equivalentTo |
Partial duplication of chromosome 3 |
|
|
MONDO:0865135 |
partial duplication of chromosome 4 |
GARD:20845 |
MONDO:equivalentTo |
Partial duplication of chromosome 4 |
|
|
MONDO:0865136 |
partial trisomy/tetrasomy of chromosome 5 |
GARD:20846 |
MONDO:equivalentTo |
Partial trisomy/tetrasomy of chromosome 5 |
|
|
MONDO:0865137 |
partial duplication of chromosome 6 |
GARD:20847 |
MONDO:equivalentTo |
Partial duplication of chromosome 6 |
|
|
MONDO:0865138 |
partial duplication of chromosome 7 |
GARD:20848 |
MONDO:equivalentTo |
Partial duplication of chromosome 7 |
|
|
MONDO:0865139 |
partial duplication of chromosome 8 |
GARD:20849 |
MONDO:equivalentTo |
Partial duplication of chromosome 8 |
|
|
MONDO:0865140 |
partial trisomy/tetrasomy of chromosome 9 |
GARD:20850 |
MONDO:equivalentTo |
Partial trisomy/tetrasomy of chromosome 9 |
|
|
MONDO:0865141 |
partial duplication of chromosome 10 |
GARD:20851 |
MONDO:equivalentTo |
Partial duplication of chromosome 10 |
|
|
MONDO:0865142 |
partial duplication of chromosome 11 |
GARD:20852 |
MONDO:equivalentTo |
Partial duplication of chromosome 11 |
|
|
MONDO:0865143 |
partial trisomy/tetrasomy of the short arm of chromosome 12 |
GARD:20853 |
MONDO:equivalentTo |
Partial trisomy/tetrasomy of the short arm of chromosome 12 |
|
|
MONDO:0865144 |
partial duplication of chromosome 16 |
GARD:20854 |
MONDO:equivalentTo |
Partial duplication of chromosome 16 |
|
|
MONDO:0865145 |
partial duplication of chromosome 17 |
GARD:20855 |
MONDO:equivalentTo |
Partial duplication of chromosome 17 |
|
|
MONDO:0865146 |
partial trisomy/tetrasomy of chromosome 18 |
GARD:20856 |
MONDO:equivalentTo |
Partial trisomy/tetrasomy of chromosome 18 |
|
|
MONDO:0865147 |
partial duplication of chromosome 19 |
GARD:20857 |
MONDO:equivalentTo |
Partial duplication of chromosome 19 |
|
|
MONDO:0865148 |
partial trisomy of chromosome 20 |
GARD:20858 |
MONDO:equivalentTo |
Partial trisomy of chromosome 20 |
|
|
MONDO:0865149 |
partial duplication of the short arm of chromosome 2 |
GARD:20859 |
MONDO:equivalentTo |
Partial duplication of the short arm of chromosome 2 |
|
|
MONDO:0865150 |
partial duplication of the short arm of chromosome 3 |
GARD:20860 |
MONDO:equivalentTo |
Partial duplication of the short arm of chromosome 3 |
|
|
MONDO:0865151 |
partial duplication of the short arm of chromosome 4 |
GARD:20861 |
MONDO:equivalentTo |
Partial duplication of the short arm of chromosome 4 |
|
|
MONDO:0865152 |
partial trisomy/tetrasomy of the short arm of chromosome 5 |
GARD:20862 |
MONDO:equivalentTo |
Partial trisomy/tetrasomy of the short arm of chromosome 5 |
|
|
MONDO:0865153 |
partial duplication of the short arm of chromosome 6 |
GARD:20863 |
MONDO:equivalentTo |
Partial duplication of the short arm of chromosome 6 |
|
|
MONDO:0865154 |
partial duplication of the short arm of chromosome 7 |
GARD:20864 |
MONDO:equivalentTo |
Partial duplication of the short arm of chromosome 7 |
|
|
MONDO:0865155 |
partial duplication of the short arm of chromosome 8 |
GARD:20865 |
MONDO:equivalentTo |
Partial duplication of the short arm of chromosome 8 |
|
|
MONDO:0865156 |
partial trisomy/tetrasomy of the short arm of chromosome 9 |
GARD:20866 |
MONDO:equivalentTo |
Partial trisomy/tetrasomy of the short arm of chromosome 9 |
|
|
MONDO:0865157 |
partial duplication of the short arm of chromosome 10 |
GARD:20867 |
MONDO:equivalentTo |
Partial duplication of the short arm of chromosome 10 |
|
|
MONDO:0865158 |
partial duplication of the short arm of chromosome 11 |
GARD:20868 |
MONDO:equivalentTo |
Partial duplication of the short arm of chromosome 11 |
|
|
MONDO:0865159 |
partial duplication of the short arm of chromosome 16 |
GARD:20869 |
MONDO:equivalentTo |
Partial duplication of the short arm of chromosome 16 |
|
|
MONDO:0865160 |
partial duplication of the short arm of chromosome 17 |
GARD:20870 |
MONDO:equivalentTo |
Partial duplication of the short arm of chromosome 17 |
|
|
MONDO:0865161 |
partial trisomy/tetrasomy of the short arm of chromosome 18 |
GARD:20871 |
MONDO:equivalentTo |
Partial trisomy/tetrasomy of the short arm of chromosome 18 |
|
|
MONDO:0865162 |
partial duplication of the long arm of chromosome 1 |
GARD:20872 |
MONDO:equivalentTo |
Partial duplication of the long arm of chromosome 1 |
|
|
MONDO:0865163 |
partial duplication of the long arm of chromosome 2 |
GARD:20873 |
MONDO:equivalentTo |
Partial duplication of the long arm of chromosome 2 |
|
|
MONDO:0865164 |
partial duplication of the long arm of chromosome 3 |
GARD:20874 |
MONDO:equivalentTo |
Partial duplication of the long arm of chromosome 3 |
|
|
MONDO:0865165 |
partial duplication of the long arm of chromosome 4 |
GARD:20875 |
MONDO:equivalentTo |
Partial duplication of the long arm of chromosome 4 |
|
|
MONDO:0865166 |
partial trisomy of the long arm of chromosome 5 |
GARD:20876 |
MONDO:equivalentTo |
Partial trisomy of the long arm of chromosome 5 |
|
|
MONDO:0865167 |
partial duplication of the long arm of chromosome 6 |
GARD:20877 |
MONDO:equivalentTo |
Partial duplication of the long arm of chromosome 6 |
|
|
MONDO:0865168 |
partial duplication of the long arm of chromosome 7 |
GARD:20878 |
MONDO:equivalentTo |
Partial duplication of the long arm of chromosome 7 |
|
|
MONDO:0865169 |
partial duplication of the long arm of chromosome 8 |
GARD:20879 |
MONDO:equivalentTo |
Partial duplication of the long arm of chromosome 8 |
|
|
MONDO:0865170 |
classical ehlers-danlos syndrome |
GARD:2088 |
MONDO:equivalentTo |
Classical Ehlers-Danlos syndrome |
|
|
MONDO:0865171 |
partial trisomy of the long arm of chromosome 9 |
GARD:20880 |
MONDO:equivalentTo |
Partial trisomy of the long arm of chromosome 9 |
|
|
MONDO:0865172 |
partial duplication of the long arm of chromosome 10 |
GARD:20881 |
MONDO:equivalentTo |
Partial duplication of the long arm of chromosome 10 |
|
|
MONDO:0865173 |
partial duplication of the long arm of chromosome 11 |
GARD:20882 |
MONDO:equivalentTo |
Partial duplication of the long arm of chromosome 11 |
|
|
MONDO:0865174 |
partial duplication of the long arm of chromosome 13 |
GARD:20883 |
MONDO:equivalentTo |
Partial duplication of the long arm of chromosome 13 |
|
|
MONDO:0865175 |
partial duplication of the long arm of chromosome 14 |
GARD:20884 |
MONDO:equivalentTo |
Partial duplication of the long arm of chromosome 14 |
|
|
MONDO:0865176 |
partial duplication of the long arm of chromosome 15 |
GARD:20885 |
MONDO:equivalentTo |
Partial duplication of the long arm of chromosome 15 |
|
|
MONDO:0865177 |
partial trisomy of the long arm of chromosome 16 |
GARD:20886 |
MONDO:equivalentTo |
Partial trisomy of the long arm of chromosome 16 |
|
|
MONDO:0865178 |
partial duplication of the long arm of chromosome 17 |
GARD:20887 |
MONDO:equivalentTo |
Partial duplication of the long arm of chromosome 17 |
|
|
MONDO:0865179 |
partial trisomy of the long arm of chromosome 18 |
GARD:20888 |
MONDO:equivalentTo |
Partial trisomy of the long arm of chromosome 18 |
|
|
MONDO:0865180 |
partial duplication of the long arm of chromosome 19 |
GARD:20889 |
MONDO:equivalentTo |
Partial duplication of the long arm of chromosome 19 |
|
|
MONDO:0865181 |
dermatosparaxis ehlers-danlos syndrome |
GARD:2089 |
MONDO:equivalentTo |
Dermatosparaxis Ehlers-Danlos syndrome |
|
|
MONDO:0865182 |
partial trisomy of the long arm of chromosome 20 |
GARD:20890 |
MONDO:equivalentTo |
Partial trisomy of the long arm of chromosome 20 |
|
|
MONDO:0865183 |
partial duplication of the long arm of chromosome 22 |
GARD:20891 |
MONDO:equivalentTo |
Partial duplication of the long arm of chromosome 22 |
|
|
MONDO:0865184 |
thymoma type a |
GARD:20892 |
MONDO:equivalentTo |
Thymoma type A |
|
|
MONDO:0865185 |
thymoma type b |
GARD:20893 |
MONDO:equivalentTo |
Thymoma type B |
|
|
MONDO:0865186 |
thymoma type ab |
GARD:20894 |
MONDO:equivalentTo |
Thymoma type AB |
|
|
MONDO:0865187 |
well-differentiated thymic neuroendocrine carcinoma |
GARD:20895 |
MONDO:equivalentTo |
Well-differentiated thymic neuroendocrine carcinoma |
|
|
MONDO:0865188 |
moderately-differentiated thymic neuroendocrine carcinoma |
GARD:20896 |
MONDO:equivalentTo |
Moderately-differentiated thymic neuroendocrine carcinoma |
|
|
MONDO:0865189 |
poorly differentiated thymic neuroendocrine carcinoma |
GARD:20897 |
MONDO:equivalentTo |
Poorly differentiated thymic neuroendocrine carcinoma |
|
|
MONDO:0865190 |
postcardiotomy right ventricular failure |
GARD:20898 |
MONDO:equivalentTo |
Postcardiotomy right ventricular failure |
|
|
MONDO:0865191 |
infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome |
GARD:20899 |
MONDO:equivalentTo |
Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome |
|
|
MONDO:0865192 |
angiosarcoma |
GARD:20900 |
MONDO:equivalentTo |
Angiosarcoma |
|
|
MONDO:0865193 |
nevus of ota |
GARD:20901 |
MONDO:equivalentTo |
Nevus of Ota |
|
|
MONDO:0865194 |
congenital smooth muscle hamartoma |
GARD:20902 |
MONDO:equivalentTo |
Congenital smooth muscle hamartoma |
|
|
MONDO:0865195 |
hyperinsulinism due to hnf4a deficiency |
GARD:20903 |
MONDO:equivalentTo |
Hyperinsulinism due to HNF4A deficiency |
|
|
MONDO:0865196 |
peeling skin syndrome type c |
GARD:20904 |
MONDO:equivalentTo |
Peeling skin syndrome type C |
|
|
MONDO:0865197 |
nk-cell enteropathy |
GARD:20905 |
MONDO:equivalentTo |
NK-cell enteropathy |
|
|
MONDO:0865198 |
complex chromosomal rearrangement |
GARD:20906 |
MONDO:equivalentTo |
Complex chromosomal rearrangement |
|
|
MONDO:0865199 |
x chromosome number anomaly |
GARD:20907 |
MONDO:equivalentTo |
X chromosome number anomaly |
|
|
MONDO:0865200 |
x chromosome number anomaly with female phenotype |
GARD:20908 |
MONDO:equivalentTo |
X chromosome number anomaly with female phenotype |
|
|
MONDO:0865201 |
x chromosome number anomaly with male phenotype |
GARD:20909 |
MONDO:equivalentTo |
X chromosome number anomaly with male phenotype |
|
|
MONDO:0865202 |
polysomy of x chromosome |
GARD:20910 |
MONDO:equivalentTo |
Polysomy of X chromosome |
|
|
MONDO:0865203 |
partial deletion of chromosome x |
GARD:20911 |
MONDO:equivalentTo |
Partial deletion of chromosome X |
|
|
MONDO:0865204 |
partial monosomy of the short arm of chromosome x |
GARD:20912 |
MONDO:equivalentTo |
Partial monosomy of the short arm of chromosome X |
|
|
MONDO:0865205 |
y chromosome number anomaly |
GARD:20913 |
MONDO:equivalentTo |
Y chromosome number anomaly |
|
|
MONDO:0865206 |
x and y chromosomal anomaly |
GARD:20914 |
MONDO:equivalentTo |
X and Y chromosomal anomaly |
|
|
MONDO:0865207 |
partial deletion of the long arm of chromosome x |
GARD:20915 |
MONDO:equivalentTo |
Partial deletion of the long arm of chromosome X |
|
|
MONDO:0865208 |
partial duplication of chromosome x |
GARD:20916 |
MONDO:equivalentTo |
Partial duplication of chromosome X |
|
|
MONDO:0865209 |
partial duplication of the long arm of chromosome x |
GARD:20917 |
MONDO:equivalentTo |
Partial duplication of the long arm of chromosome X |
|
|
MONDO:0865210 |
uniparental disomy of chromosome x |
GARD:20918 |
MONDO:equivalentTo |
Uniparental disomy of chromosome X |
|
|
MONDO:0865211 |
partial duplication of the short arm of chromosome 1 |
GARD:20919 |
MONDO:equivalentTo |
Partial duplication of the short arm of chromosome 1 |
|
|
MONDO:0865212 |
ehrlichiosis |
GARD:2092 |
MONDO:equivalentTo |
Ehrlichiosis |
|
|
MONDO:0865213 |
trisomy 8p |
GARD:20920 |
MONDO:equivalentTo |
Trisomy 8p |
|
|
MONDO:0865214 |
interstitial lung disease specific to childhood |
GARD:20921 |
MONDO:equivalentTo |
Interstitial lung disease specific to childhood |
|
|
MONDO:0865215 |
primary interstitial lung disease specific to childhood due to alveolar structure disorder |
GARD:20922 |
MONDO:equivalentTo |
Primary interstitial lung disease specific to childhood due to alveolar structure disorder |
|
|
MONDO:0865216 |
primary interstitial lung disease specific to childhood due to alveolar vascular disorder |
GARD:20923 |
MONDO:equivalentTo |
Primary interstitial lung disease specific to childhood due to alveolar vascular disorder |
|
|
MONDO:0865217 |
isolated pulmonary capillaritis |
GARD:20924 |
MONDO:equivalentTo |
Isolated pulmonary capillaritis |
|
|
MONDO:0865218 |
interstitial lung disease specific to infancy |
GARD:20925 |
MONDO:equivalentTo |
Interstitial lung disease specific to infancy |
|
|
MONDO:0865219 |
secondary interstitial lung disease specific to childhood associated with a systemic disease |
GARD:20926 |
MONDO:equivalentTo |
Secondary interstitial lung disease specific to childhood associated with a systemic disease |
|
|
MONDO:0865220 |
secondary interstitial lung disease specific to childhood associated with a connective tissue disease |
GARD:20927 |
MONDO:equivalentTo |
Secondary interstitial lung disease specific to childhood associated with a connective tissue disease |
|
|
MONDO:0865221 |
secondary interstitial lung disease specific to childhood associated with a systemic vasculitis |
GARD:20928 |
MONDO:equivalentTo |
Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis |
|
|
MONDO:0865222 |
secondary interstitial lung disease specific to childhood associated with a granulomatous disease |
GARD:20929 |
MONDO:equivalentTo |
Secondary interstitial lung disease specific to childhood associated with a granulomatous disease |
|
|
MONDO:0865223 |
secondary interstitial lung disease specific to childhood associated with a metabolic disease |
GARD:20930 |
MONDO:equivalentTo |
Secondary interstitial lung disease specific to childhood associated with a metabolic disease |
|
|
MONDO:0865224 |
interstitial lung disease specific to adulthood |
GARD:20931 |
MONDO:equivalentTo |
Interstitial lung disease specific to adulthood |
|
|
MONDO:0865225 |
primary interstitial lung disease specific to adulthood |
GARD:20932 |
MONDO:equivalentTo |
Primary interstitial lung disease specific to adulthood |
|
|
MONDO:0865226 |
secondary interstitial lung disease specific to adulthood associated with a systemic disease |
GARD:20933 |
MONDO:equivalentTo |
Secondary interstitial lung disease specific to adulthood associated with a systemic disease |
|
|
MONDO:0865227 |
interstitial lung disease in childhood and adulthood |
GARD:20934 |
MONDO:equivalentTo |
Interstitial lung disease in childhood and adulthood |
|
|
MONDO:0865228 |
primary interstitial lung disease in childhood and adulthood |
GARD:20935 |
MONDO:equivalentTo |
Primary interstitial lung disease in childhood and adulthood |
|
|
MONDO:0865229 |
primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder |
GARD:20936 |
MONDO:equivalentTo |
Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder |
|
|
MONDO:0865230 |
primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder |
GARD:20937 |
MONDO:equivalentTo |
Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder |
|
|
MONDO:0865231 |
secondary interstitial lung disease in childhood and adulthood |
GARD:20938 |
MONDO:equivalentTo |
Secondary interstitial lung disease in childhood and adulthood |
|
|
MONDO:0865232 |
secondary interstitial lung disease in childhood and adulthood associated with a systemic disease |
GARD:20939 |
MONDO:equivalentTo |
Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease |
|
|
MONDO:0865233 |
secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease |
GARD:20940 |
MONDO:equivalentTo |
Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease |
|
|
MONDO:0865234 |
secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis |
GARD:20941 |
MONDO:equivalentTo |
Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis |
|
|
MONDO:0865235 |
drug or radiation exposure-related interstitial lung disease |
GARD:20942 |
MONDO:equivalentTo |
Drug or radiation exposure-related interstitial lung disease |
|
|
MONDO:0865236 |
exposure-related interstitial lung disease |
GARD:20943 |
MONDO:equivalentTo |
Exposure-related interstitial lung disease |
|
|
MONDO:0865237 |
genetic interstitial lung disease |
GARD:20944 |
MONDO:equivalentTo |
Genetic interstitial lung disease |
|
|
MONDO:0865238 |
intraocular medulloepithelioma |
GARD:20945 |
MONDO:equivalentTo |
Intraocular medulloepithelioma |
|
|
MONDO:0865239 |
mycophenolate mofetil embryopathy |
GARD:20946 |
MONDO:equivalentTo |
Mycophenolate mofetil embryopathy |
|
|
MONDO:0865240 |
dyrk1a-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion |
GARD:20947 |
MONDO:equivalentTo |
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion |
|
|
MONDO:0865241 |
complication in hemodialysis |
GARD:20948 |
MONDO:equivalentTo |
Complication in hemodialysis |
|
|
MONDO:0865242 |
open iniencephaly |
GARD:20949 |
MONDO:equivalentTo |
Open iniencephaly |
|
|
MONDO:0865243 |
closed iniencephaly |
GARD:20950 |
MONDO:equivalentTo |
Closed iniencephaly |
|
|
MONDO:0865244 |
spina bifida aperta |
GARD:20951 |
MONDO:equivalentTo |
Spina bifida aperta |
|
|
MONDO:0865245 |
total spina bifida aperta |
GARD:20952 |
MONDO:equivalentTo |
Total spina bifida aperta |
|
|
MONDO:0865246 |
thoracolumbosacral spina bifida aperta |
GARD:20953 |
MONDO:equivalentTo |
Thoracolumbosacral spina bifida aperta |
|
|
MONDO:0865247 |
lumbosacral spina bifida aperta |
GARD:20954 |
MONDO:equivalentTo |
Lumbosacral spina bifida aperta |
|
|
MONDO:0865248 |
cervical spina bifida aperta |
GARD:20955 |
MONDO:equivalentTo |
Cervical spina bifida aperta |
|
|
MONDO:0865249 |
cervicothoracic spina bifida aperta |
GARD:20956 |
MONDO:equivalentTo |
Cervicothoracic spina bifida aperta |
|
|
MONDO:0865250 |
upper thoracic spina bifida aperta |
GARD:20957 |
MONDO:equivalentTo |
Upper thoracic spina bifida aperta |
|
|
MONDO:0865251 |
spina bifida cystica |
GARD:20958 |
MONDO:equivalentTo |
Spina bifida cystica |
|
|
MONDO:0865252 |
total spina bifida cystica |
GARD:20959 |
MONDO:equivalentTo |
Total spina bifida cystica |
|
|
MONDO:0865253 |
acrocephalopolydactyly |
GARD:2096 |
MONDO:equivalentTo |
Acrocephalopolydactyly |
|
|
MONDO:0865254 |
thoracolumbosacral spina bifida cystica |
GARD:20960 |
MONDO:equivalentTo |
Thoracolumbosacral spina bifida cystica |
|
|
MONDO:0865255 |
lumbosacral spina bifida cystica |
GARD:20961 |
MONDO:equivalentTo |
Lumbosacral spina bifida cystica |
|
|
MONDO:0865256 |
cervical spina bifida cystica |
GARD:20962 |
MONDO:equivalentTo |
Cervical spina bifida cystica |
|
|
MONDO:0865257 |
cervicothoracic spina bifida cystica |
GARD:20963 |
MONDO:equivalentTo |
Cervicothoracic spina bifida cystica |
|
|
MONDO:0865258 |
upper thoracic spina bifida cystica |
GARD:20964 |
MONDO:equivalentTo |
Upper thoracic spina bifida cystica |
|
|
MONDO:0865259 |
posterior meningocele |
GARD:20965 |
MONDO:equivalentTo |
Posterior meningocele |
|
|
MONDO:0865260 |
myelocystocele |
GARD:20966 |
MONDO:equivalentTo |
Myelocystocele |
|
|
MONDO:0865261 |
cephalocele |
GARD:20967 |
MONDO:equivalentTo |
Cephalocele |
|
|
MONDO:0865262 |
cranial meningocele |
GARD:20968 |
MONDO:equivalentTo |
Cranial meningocele |
|
|
MONDO:0865263 |
occipital encephalocele |
GARD:20969 |
MONDO:equivalentTo |
Occipital encephalocele |
|
|
MONDO:0865264 |
parietal encephalocele |
GARD:20970 |
MONDO:equivalentTo |
Parietal encephalocele |
|
|
MONDO:0865265 |
basal encephalocele |
GARD:20971 |
MONDO:equivalentTo |
Basal encephalocele |
|
|
MONDO:0865266 |
lipoma associated with neurospinal dysraphism |
GARD:20972 |
MONDO:equivalentTo |
Lipoma associated with neurospinal dysraphism |
|
|
MONDO:0865267 |
leptomyelolipoma |
GARD:20973 |
MONDO:equivalentTo |
Leptomyelolipoma |
|
|
MONDO:0865268 |
malformation of the neurenteric canal, spinal cord and column |
GARD:20974 |
MONDO:equivalentTo |
Malformation of the neurenteric canal, spinal cord and column |
|
|
MONDO:0865269 |
neurenteric cyst |
GARD:20975 |
MONDO:equivalentTo |
Neurenteric cyst |
|
|
MONDO:0865270 |
isolated amyelia |
GARD:20976 |
MONDO:equivalentTo |
Isolated amyelia |
|
|
MONDO:0865271 |
isolated megalencephaly |
GARD:20977 |
MONDO:equivalentTo |
Isolated megalencephaly |
|
|
MONDO:0865272 |
midline cerebral malformation |
GARD:20978 |
MONDO:equivalentTo |
Midline cerebral malformation |
|
|
MONDO:0865273 |
isolated arhinencephaly |
GARD:20979 |
MONDO:equivalentTo |
Isolated arhinencephaly |
|
|
MONDO:0865274 |
microcephaly-cardiac defect-lung malsegmentation syndrome |
GARD:2098 |
MONDO:equivalentTo |
Microcephaly-cardiac defect-lung malsegmentation syndrome |
|
|
MONDO:0865275 |
unilateral polymicrogyria |
GARD:20980 |
MONDO:equivalentTo |
Unilateral polymicrogyria |
|
|
MONDO:0865276 |
unilateral focal polymicrogyria |
GARD:20981 |
MONDO:equivalentTo |
Unilateral focal polymicrogyria |
|
|
MONDO:0865277 |
cerebral cortical dysplasia |
GARD:20982 |
MONDO:equivalentTo |
Cerebral cortical dysplasia |
|
|
MONDO:0865278 |
isolated focal cortical dysplasia type i |
GARD:20983 |
MONDO:equivalentTo |
Isolated focal cortical dysplasia type I |
|
|
MONDO:0865279 |
isolated focal cortical dysplasia type ia |
GARD:20984 |
MONDO:equivalentTo |
Isolated focal cortical dysplasia type Ia |
|
|
MONDO:0865280 |
isolated focal cortical dysplasia type ib |
GARD:20985 |
MONDO:equivalentTo |
Isolated focal cortical dysplasia type Ib |
|
|
MONDO:0865281 |
isolated focal cortical dysplasia type ic |
GARD:20986 |
MONDO:equivalentTo |
Isolated focal cortical dysplasia type Ic |
|
|
MONDO:0865282 |
encephaloclastic disorder |
GARD:20987 |
MONDO:equivalentTo |
Encephaloclastic disorder |
|
|
MONDO:0865283 |
central nervous system cystic malformation |
GARD:20988 |
MONDO:equivalentTo |
Central nervous system cystic malformation |
|
|
MONDO:0865284 |
glioependymal/ependymal cyst |
GARD:20989 |
MONDO:equivalentTo |
Glioependymal/ependymal cyst |
|
|
MONDO:0865285 |
isolated cerebellar vermis agenesis |
GARD:20990 |
MONDO:equivalentTo |
Isolated cerebellar vermis agenesis |
|
|
MONDO:0865286 |
isolated total cerebellar vermis agenesis |
GARD:20991 |
MONDO:equivalentTo |
Isolated total cerebellar vermis agenesis |
|
|
MONDO:0865287 |
isolated partial cerebellar vermis agenesis |
GARD:20992 |
MONDO:equivalentTo |
Isolated partial cerebellar vermis agenesis |
|
|
MONDO:0865288 |
isolated dandy-walker malformation with hydrocephalus |
GARD:20993 |
MONDO:equivalentTo |
Isolated Dandy-Walker malformation with hydrocephalus |
|
|
MONDO:0865289 |
isolated dandy-walker malformation without hydrocephalus |
GARD:20994 |
MONDO:equivalentTo |
Isolated Dandy-Walker malformation without hydrocephalus |
|
|
MONDO:0865290 |
isolated unilateral hemispheric cerebellar hypoplasia |
GARD:20995 |
MONDO:equivalentTo |
Isolated unilateral hemispheric cerebellar hypoplasia |
|
|
MONDO:0865291 |
isolated bilateral hemispheric cerebellar hypoplasia |
GARD:20996 |
MONDO:equivalentTo |
Isolated bilateral hemispheric cerebellar hypoplasia |
|
|
MONDO:0865292 |
global cerebellar malformation |
GARD:20997 |
MONDO:equivalentTo |
Global cerebellar malformation |
|
|
MONDO:0865293 |
congenital communicating hydrocephalus |
GARD:20998 |
MONDO:equivalentTo |
Congenital communicating hydrocephalus |
|
|
MONDO:0865294 |
syndrome with a cerebellar malformation as a major feature |
GARD:20999 |
MONDO:equivalentTo |
Syndrome with a cerebellar malformation as a major feature |
|
|
MONDO:0865295 |
syndrome with microcephaly as a major feature |
GARD:21000 |
MONDO:equivalentTo |
Syndrome with microcephaly as a major feature |
|
|
MONDO:0865296 |
other syndrome with a central nervous system malformation as a major feature |
GARD:21001 |
MONDO:equivalentTo |
Other syndrome with a central nervous system malformation as a major feature |
|
|
MONDO:0865297 |
syndrome with a dandy-walker malformation as a major feature |
GARD:21002 |
MONDO:equivalentTo |
Syndrome with a Dandy-Walker malformation as a major feature |
|
|
MONDO:0865298 |
genetic non-syndromic central nervous system malformation |
GARD:21003 |
MONDO:equivalentTo |
Genetic non-syndromic central nervous system malformation |
|
|
MONDO:0865299 |
genetic cerebral malformation |
GARD:21004 |
MONDO:equivalentTo |
Genetic cerebral malformation |
|
|
MONDO:0865300 |
genetic posterior fossa malformation |
GARD:21005 |
MONDO:equivalentTo |
Genetic posterior fossa malformation |
|
|
MONDO:0865301 |
genetic cerebellar malformation |
GARD:21006 |
MONDO:equivalentTo |
Genetic cerebellar malformation |
|
|
MONDO:0865302 |
genetic syndrome with a central nervous system malformation as a major feature |
GARD:21007 |
MONDO:equivalentTo |
Genetic syndrome with a central nervous system malformation as a major feature |
|
|
MONDO:0865303 |
genetic syndrome with a cerebellar malformation as a major feature |
GARD:21008 |
MONDO:equivalentTo |
Genetic syndrome with a cerebellar malformation as a major feature |
|
|
MONDO:0865304 |
genetic syndrome with a dandy-walker malformation as a major feature |
GARD:21009 |
MONDO:equivalentTo |
Genetic syndrome with a Dandy-Walker malformation as a major feature |
|
|
MONDO:0865305 |
genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature |
GARD:21010 |
MONDO:equivalentTo |
Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature |
|
|
MONDO:0865306 |
genetic soft tissue tumor |
GARD:21011 |
MONDO:equivalentTo |
Genetic soft tissue tumor |
|
|
MONDO:0865307 |
genetic digestive tract tumor |
GARD:21012 |
MONDO:equivalentTo |
Genetic digestive tract tumor |
|
|
MONDO:0865308 |
genetic cardiac tumor |
GARD:21013 |
MONDO:equivalentTo |
Genetic cardiac tumor |
|
|
MONDO:0865309 |
genetic urogenital tumor |
GARD:21014 |
MONDO:equivalentTo |
Genetic urogenital tumor |
|
|
MONDO:0865310 |
genetic neuroendocrine tumor |
GARD:21015 |
MONDO:equivalentTo |
Genetic neuroendocrine tumor |
|
|
MONDO:0865311 |
genetic cardiac anomaly |
GARD:21016 |
MONDO:equivalentTo |
Genetic cardiac anomaly |
|
|
MONDO:0865312 |
hereditary attr amyloidosis |
GARD:21017 |
MONDO:equivalentTo |
Hereditary ATTR amyloidosis |
|
|
MONDO:0865313 |
rare genetic systemic or rheumatologic disease |
GARD:21018 |
MONDO:equivalentTo |
Rare genetic systemic or rheumatologic disease |
|
|
MONDO:0865314 |
rare hemorrhagic disorder due to a constitutional thrombocytopenia |
GARD:21019 |
MONDO:equivalentTo |
Rare hemorrhagic disorder due to a constitutional thrombocytopenia |
|
|
MONDO:0865315 |
x-linked emery-dreifuss muscular dystrophy |
GARD:2102 |
MONDO:equivalentTo |
X-linked Emery-Dreifuss muscular dystrophy |
|
|
MONDO:0865316 |
rare hemorrhagic disorder due to a qualitative platelet defect |
GARD:21020 |
MONDO:equivalentTo |
Rare hemorrhagic disorder due to a qualitative platelet defect |
|
|
MONDO:0865317 |
genetic infertility |
GARD:21021 |
MONDO:equivalentTo |
Genetic infertility |
|
|
MONDO:0865318 |
alpha-thalassemia and related disorders |
GARD:21022 |
MONDO:equivalentTo |
Alpha-thalassemia and related disorders |
|
|
MONDO:0865319 |
beta-thalassemia and related diseases |
GARD:21023 |
MONDO:equivalentTo |
Beta-thalassemia and related diseases |
|
|
MONDO:0865320 |
sickle cell disease and related diseases |
GARD:21024 |
MONDO:equivalentTo |
Sickle cell disease and related diseases |
|
|
MONDO:0865321 |
idiopathic pulmonary arterial hypertension |
GARD:21025 |
MONDO:equivalentTo |
Idiopathic pulmonary arterial hypertension |
|
|
MONDO:0865322 |
drug- or toxin-induced pulmonary arterial hypertension |
GARD:21026 |
MONDO:equivalentTo |
Drug- or toxin-induced pulmonary arterial hypertension |
|
|
MONDO:0865323 |
pulmonary arterial hypertension associated with another disease |
GARD:21027 |
MONDO:equivalentTo |
Pulmonary arterial hypertension associated with another disease |
|
|
MONDO:0865324 |
pulmonary arterial hypertension associated with connective tissue disease |
GARD:21028 |
MONDO:equivalentTo |
Pulmonary arterial hypertension associated with connective tissue disease |
|
|
MONDO:0865325 |
pulmonary arterial hypertension associated with congenital heart disease |
GARD:21029 |
MONDO:equivalentTo |
Pulmonary arterial hypertension associated with congenital heart disease |
|
|
MONDO:0865326 |
pulmonary arterial hypertension associated with hiv infection |
GARD:21030 |
MONDO:equivalentTo |
Pulmonary arterial hypertension associated with HIV infection |
|
|
MONDO:0865327 |
pulmonary arterial hypertension associated with portal hypertension |
GARD:21031 |
MONDO:equivalentTo |
Pulmonary arterial hypertension associated with portal hypertension |
|
|
MONDO:0865328 |
pulmonary arterial hypertension associated with schistosomiasis |
GARD:21032 |
MONDO:equivalentTo |
Pulmonary arterial hypertension associated with schistosomiasis |
|
|
MONDO:0865329 |
pulmonary arterial hypertension associated with chronic hemolytic anemia |
GARD:21033 |
MONDO:equivalentTo |
Pulmonary arterial hypertension associated with chronic hemolytic anemia |
|
|
MONDO:0865330 |
pulmonary hypertension owing to lung disease and/or hypoxia |
GARD:21034 |
MONDO:equivalentTo |
Pulmonary hypertension owing to lung disease and/or hypoxia |
|
|
MONDO:0865331 |
pulmonary hypertension with unclear multifactorial mechanism |
GARD:21035 |
MONDO:equivalentTo |
Pulmonary hypertension with unclear multifactorial mechanism |
|
|
MONDO:0865332 |
syndrome with pulmonary hypertension as a major feature |
GARD:21036 |
MONDO:equivalentTo |
Syndrome with pulmonary hypertension as a major feature |
|
|
MONDO:0865333 |
hemolytic disease due to fetomaternal alloimmunization |
GARD:21037 |
MONDO:equivalentTo |
Hemolytic disease due to fetomaternal alloimmunization |
|
|
MONDO:0865334 |
hemolytic disease of the newborn with kell alloimmunization |
GARD:21038 |
MONDO:equivalentTo |
Hemolytic disease of the newborn with Kell alloimmunization |
|
|
MONDO:0865335 |
genetic neurodegenerative disease with dementia |
GARD:21039 |
MONDO:equivalentTo |
Genetic neurodegenerative disease with dementia |
|
|
MONDO:0865336 |
congenital lobar emphysema |
GARD:2104 |
MONDO:equivalentTo |
Congenital lobar emphysema |
|
|
MONDO:0865337 |
genetic frontotemporal degeneration with dementia |
GARD:21040 |
MONDO:equivalentTo |
Genetic frontotemporal degeneration with dementia |
|
|
MONDO:0865338 |
bile acid coa ligase deficiency and defective amidation |
GARD:21041 |
MONDO:equivalentTo |
Bile acid CoA ligase deficiency and defective amidation |
|
|
MONDO:0865339 |
rare tumor of salivary glands |
GARD:21042 |
MONDO:equivalentTo |
Rare tumor of salivary glands |
|
|
MONDO:0865340 |
malignant epithelial tumor of salivary glands |
GARD:21043 |
MONDO:equivalentTo |
Malignant epithelial tumor of salivary glands |
|
|
MONDO:0865341 |
multiple endocrine neoplasia |
GARD:21044 |
MONDO:equivalentTo |
Multiple endocrine neoplasia |
|
|
MONDO:0865342 |
idiopathic recurrent stupor |
GARD:21045 |
MONDO:equivalentTo |
Idiopathic recurrent stupor |
|
|
MONDO:0865343 |
mucopolysaccharidosis type 6, rapidly progressing |
GARD:21046 |
MONDO:equivalentTo |
Mucopolysaccharidosis type 6, rapidly progressing |
|
|
MONDO:0865344 |
mucopolysaccharidosis type 6, slowly progressing |
GARD:21047 |
MONDO:equivalentTo |
Mucopolysaccharidosis type 6, slowly progressing |
|
|
MONDO:0865345 |
machado-joseph disease type 1 |
GARD:21048 |
MONDO:equivalentTo |
Machado-Joseph disease type 1 |
|
|
MONDO:0865346 |
machado-joseph disease type 2 |
GARD:21049 |
MONDO:equivalentTo |
Machado-Joseph disease type 2 |
|
|
MONDO:0865347 |
machado-joseph disease type 3 |
GARD:21050 |
MONDO:equivalentTo |
Machado-Joseph disease type 3 |
|
|
MONDO:0865348 |
hemihyperplasia-multiple lipomatosis syndrome |
GARD:21051 |
MONDO:equivalentTo |
Hemihyperplasia-multiple lipomatosis syndrome |
|
|
MONDO:0865349 |
10q22.3q23.3 microduplication syndrome |
GARD:21052 |
MONDO:equivalentTo |
10q22.3q23.3 microduplication syndrome |
|
|
MONDO:0865350 |
familial hyperinsulinism |
GARD:21053 |
MONDO:equivalentTo |
Familial hyperinsulinism |
|
|
MONDO:0865351 |
hyperinsulinism due to ucp2 deficiency |
GARD:21054 |
MONDO:equivalentTo |
Hyperinsulinism due to UCP2 deficiency |
|
|
MONDO:0865352 |
diazoxide-resistant hyperinsulinism |
GARD:21055 |
MONDO:equivalentTo |
Diazoxide-resistant hyperinsulinism |
|
|
MONDO:0865353 |
non-insulinoma pancreatogenous hypoglycemia syndrome |
GARD:21056 |
MONDO:equivalentTo |
Non-insulinoma pancreatogenous hypoglycemia syndrome |
|
|
MONDO:0865354 |
symptomatic form of coffin-lowry syndrome in female carriers |
GARD:21057 |
MONDO:equivalentTo |
Symptomatic form of Coffin-Lowry syndrome in female carriers |
|
|
MONDO:0865355 |
spasmus nutans |
GARD:21058 |
MONDO:equivalentTo |
Spasmus nutans |
|
|
MONDO:0865356 |
acute endophthalmitis |
GARD:21059 |
MONDO:equivalentTo |
Acute endophthalmitis |
|
|
MONDO:0865357 |
chronic endophthalmitis |
GARD:21060 |
MONDO:equivalentTo |
Chronic endophthalmitis |
|
|
MONDO:0865358 |
toxic maculopathy due to antimalarial drugs |
GARD:21061 |
MONDO:equivalentTo |
Toxic maculopathy due to antimalarial drugs |
|
|
MONDO:0865359 |
primary oculocerebral lymphoma |
GARD:21062 |
MONDO:equivalentTo |
Primary oculocerebral lymphoma |
|
|
MONDO:0865360 |
primary intraocular lymphoma |
GARD:21063 |
MONDO:equivalentTo |
Primary intraocular lymphoma |
|
|
MONDO:0865361 |
primary organ-specific lymphoma |
GARD:21064 |
MONDO:equivalentTo |
Primary organ-specific lymphoma |
|
|
MONDO:0865362 |
intermediate uveitis |
GARD:21065 |
MONDO:equivalentTo |
Intermediate uveitis |
|
|
MONDO:0865363 |
infectious posterior uveitis |
GARD:21066 |
MONDO:equivalentTo |
Infectious posterior uveitis |
|
|
MONDO:0865364 |
infectious anterior uveitis |
GARD:21067 |
MONDO:equivalentTo |
Infectious anterior uveitis |
|
|
MONDO:0865365 |
infectious panuveitis |
GARD:21068 |
MONDO:equivalentTo |
Infectious panuveitis |
|
|
MONDO:0865366 |
paraneoplastic uveitis |
GARD:21069 |
MONDO:equivalentTo |
Paraneoplastic uveitis |
|
|
MONDO:0865367 |
calciphylaxis cutis |
GARD:21070 |
MONDO:equivalentTo |
Calciphylaxis cutis |
|
|
MONDO:0865368 |
visceral calciphylaxis |
GARD:21071 |
MONDO:equivalentTo |
Visceral calciphylaxis |
|
|
MONDO:0865369 |
laryngotracheoesophageal cleft type 0 |
GARD:21072 |
MONDO:equivalentTo |
Laryngotracheoesophageal cleft type 0 |
|
|
MONDO:0865370 |
pelizaeus-merzbacher disease, classic form |
GARD:21073 |
MONDO:equivalentTo |
Pelizaeus-Merzbacher disease, classic form |
|
|
MONDO:0865371 |
pelizaeus-merzbacher disease, transitional form |
GARD:21074 |
MONDO:equivalentTo |
Pelizaeus-Merzbacher disease, transitional form |
|
|
MONDO:0865372 |
pelizaeus-merzbacher disease in female carriers |
GARD:21075 |
MONDO:equivalentTo |
Pelizaeus-Merzbacher disease in female carriers |
|
|
MONDO:0865373 |
autoimmune pancreatitis type 1 |
GARD:21076 |
MONDO:equivalentTo |
Autoimmune pancreatitis type 1 |
|
|
MONDO:0865374 |
autoimmune pancreatitis type 2 |
GARD:21077 |
MONDO:equivalentTo |
Autoimmune pancreatitis type 2 |
|
|
MONDO:0865375 |
distal monosomy 12p |
GARD:21078 |
MONDO:equivalentTo |
Distal monosomy 12p |
|
|
MONDO:0865376 |
rare systemic or rheumatological disease of childhood |
GARD:21079 |
MONDO:equivalentTo |
Rare systemic or rheumatological disease of childhood |
|
|
MONDO:0865377 |
encephalocraniocutaneous lipomatosis |
GARD:2108 |
MONDO:equivalentTo |
Encephalocraniocutaneous lipomatosis |
|
|
MONDO:0865378 |
autosomal semi-dominant severe lipodystrophic laminopathy |
GARD:21080 |
MONDO:equivalentTo |
Autosomal semi-dominant severe lipodystrophic laminopathy |
|
|
MONDO:0865379 |
rare pediatric vasculitis |
GARD:21081 |
MONDO:equivalentTo |
Rare pediatric vasculitis |
|
|
MONDO:0865380 |
rare pediatric systemic disease |
GARD:21082 |
MONDO:equivalentTo |
Rare pediatric systemic disease |
|
|
MONDO:0865381 |
recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome |
GARD:21083 |
MONDO:equivalentTo |
Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome |
|
|
MONDO:0865382 |
familial alzheimer-like prion disease |
GARD:21084 |
MONDO:equivalentTo |
Familial Alzheimer-like prion disease |
|
|
MONDO:0865383 |
inherited human prion disease |
GARD:21085 |
MONDO:equivalentTo |
Inherited human prion disease |
|
|
MONDO:0865384 |
familial omphalocele syndrome with facial dysmorphism |
GARD:21086 |
MONDO:equivalentTo |
Familial omphalocele syndrome with facial dysmorphism |
|
|
MONDO:0865385 |
generalized essential telangiectasia |
GARD:21087 |
MONDO:equivalentTo |
Generalized essential telangiectasia |
|
|
MONDO:0865386 |
bullous diffuse cutaneous mastocytosis |
GARD:21088 |
MONDO:equivalentTo |
Bullous diffuse cutaneous mastocytosis |
|
|
MONDO:0865387 |
pseudoxanthomatous diffuse cutaneous mastocytosis |
GARD:21089 |
MONDO:equivalentTo |
Pseudoxanthomatous diffuse cutaneous mastocytosis |
|
|
MONDO:0865388 |
intralobar congenital pulmonary sequestration |
GARD:21090 |
MONDO:equivalentTo |
Intralobar congenital pulmonary sequestration |
|
|
MONDO:0865389 |
extralobar congenital pulmonary sequestration |
GARD:21091 |
MONDO:equivalentTo |
Extralobar congenital pulmonary sequestration |
|
|
MONDO:0865390 |
communicating congenital bronchopulmonary-foregut malformation |
GARD:21092 |
MONDO:equivalentTo |
Communicating congenital bronchopulmonary-foregut malformation |
|
|
MONDO:0865391 |
congenital pulmonary airway malformation type 0 |
GARD:21093 |
MONDO:equivalentTo |
Congenital pulmonary airway malformation type 0 |
|
|
MONDO:0865392 |
congenital pulmonary airway malformation type 1 |
GARD:21094 |
MONDO:equivalentTo |
Congenital pulmonary airway malformation type 1 |
|
|
MONDO:0865393 |
congenital pulmonary airway malformation type 2 |
GARD:21095 |
MONDO:equivalentTo |
Congenital pulmonary airway malformation type 2 |
|
|
MONDO:0865394 |
congenital pulmonary airway malformation type 3 |
GARD:21096 |
MONDO:equivalentTo |
Congenital pulmonary airway malformation type 3 |
|
|
MONDO:0865395 |
congenital pulmonary airway malformation type 4 |
GARD:21097 |
MONDO:equivalentTo |
Congenital pulmonary airway malformation type 4 |
|
|
MONDO:0865396 |
idiopathic anterior uveitis |
GARD:21098 |
MONDO:equivalentTo |
Idiopathic anterior uveitis |
|
|
MONDO:0865397 |
idiopathic posterior uveitis |
GARD:21099 |
MONDO:equivalentTo |
Idiopathic posterior uveitis |
|
|
MONDO:0865398 |
idiopathic panuveitis |
GARD:21100 |
MONDO:equivalentTo |
Idiopathic panuveitis |
|
|
MONDO:0865399 |
systemic diseases with anterior uveitis |
GARD:21101 |
MONDO:equivalentTo |
Systemic diseases with anterior uveitis |
|
|
MONDO:0865400 |
systemic diseases with posterior uveitis |
GARD:21102 |
MONDO:equivalentTo |
Systemic diseases with posterior uveitis |
|
|
MONDO:0865401 |
systemic diseases with panuveitis |
GARD:21103 |
MONDO:equivalentTo |
Systemic diseases with panuveitis |
|
|
MONDO:0865402 |
inherited non-syndromic ichthyosis |
GARD:21104 |
MONDO:equivalentTo |
Inherited non-syndromic ichthyosis |
|
|
MONDO:0865403 |
inherited ichthyosis syndromic form |
GARD:21105 |
MONDO:equivalentTo |
Inherited ichthyosis syndromic form |
|
|
MONDO:0865404 |
autosomal recessive congenital ichthyosis |
GARD:21106 |
MONDO:equivalentTo |
Autosomal recessive congenital ichthyosis |
|
|
MONDO:0865405 |
keratinopathic ichthyosis |
GARD:21107 |
MONDO:equivalentTo |
Keratinopathic ichthyosis |
|
|
MONDO:0865406 |
acral self-healing collodion baby |
GARD:21108 |
MONDO:equivalentTo |
Acral self-healing collodion baby |
|
|
MONDO:0865407 |
x-linked ichthyosis syndrome |
GARD:21109 |
MONDO:equivalentTo |
X-linked ichthyosis syndrome |
|
|
MONDO:0865408 |
autosomal ichthyosis syndrome |
GARD:21110 |
MONDO:equivalentTo |
Autosomal ichthyosis syndrome |
|
|
MONDO:0865409 |
autosomal ichthyosis syndrome with prominent hair abnormalities |
GARD:21111 |
MONDO:equivalentTo |
Autosomal ichthyosis syndrome with prominent hair abnormalities |
|
|
MONDO:0865410 |
autosomal ichthyosis syndrome with prominent neurologic signs |
GARD:21112 |
MONDO:equivalentTo |
Autosomal ichthyosis syndrome with prominent neurologic signs |
|
|
MONDO:0865411 |
autosomal ichthyosis syndrome with fatal disease course |
GARD:21113 |
MONDO:equivalentTo |
Autosomal ichthyosis syndrome with fatal disease course |
|
|
MONDO:0865412 |
autosomal ichthyosis syndrome with other associated signs |
GARD:21114 |
MONDO:equivalentTo |
Autosomal ichthyosis syndrome with other associated signs |
|
|
MONDO:0865413 |
partial deletion of chromosome 12 |
GARD:21115 |
MONDO:equivalentTo |
Partial deletion of chromosome 12 |
|
|
MONDO:0865414 |
autoimmune polyendocrinopathy |
GARD:21116 |
MONDO:equivalentTo |
Autoimmune polyendocrinopathy |
|
|
MONDO:0865415 |
xp22.13p22.2 duplication syndrome |
GARD:21117 |
MONDO:equivalentTo |
Xp22.13p22.2 duplication syndrome |
|
|
MONDO:0865416 |
fetal lung interstitial tumor |
GARD:21118 |
MONDO:equivalentTo |
Fetal lung interstitial tumor |
|
|
MONDO:0865417 |
familial intrahepatic cholestasis |
GARD:21119 |
MONDO:equivalentTo |
Familial intrahepatic cholestasis |
|
|
MONDO:0865418 |
well-differentiated fetal adenocarcinoma of the lung |
GARD:21120 |
MONDO:equivalentTo |
Well-differentiated fetal adenocarcinoma of the lung |
|
|
MONDO:0865419 |
acute annular outer retinopathy |
GARD:21121 |
MONDO:equivalentTo |
Acute annular outer retinopathy |
|
|
MONDO:0865420 |
qualitative or quantitative defects of troponin |
GARD:21122 |
MONDO:equivalentTo |
Qualitative or quantitative defects of troponin |
|
|
MONDO:0865421 |
qualitative or quantitative defects of tropomyosin |
GARD:21123 |
MONDO:equivalentTo |
Qualitative or quantitative defects of tropomyosin |
|
|
MONDO:0865422 |
ocular albinism |
GARD:21124 |
MONDO:equivalentTo |
Ocular albinism |
|
|
MONDO:0865423 |
syndromic oculocutaneous albinism |
GARD:21125 |
MONDO:equivalentTo |
Syndromic oculocutaneous albinism |
|
|
MONDO:0865424 |
disorder of phenylalanine metabolism |
GARD:21126 |
MONDO:equivalentTo |
Disorder of phenylalanine metabolism |
|
|
MONDO:0865425 |
disorder of tyrosine metabolism |
GARD:21127 |
MONDO:equivalentTo |
Disorder of tyrosine metabolism |
|
|
MONDO:0865426 |
neonatal marfan syndrome |
GARD:21128 |
MONDO:equivalentTo |
Neonatal Marfan syndrome |
|
|
MONDO:0865427 |
marfan syndrome and marfan-related disorders |
GARD:21129 |
MONDO:equivalentTo |
Marfan syndrome and Marfan-related disorders |
|
|
MONDO:0865428 |
bonnemann-meinecke-reich syndrome |
GARD:2113 |
MONDO:equivalentTo |
Bonnemann-Meinecke-Reich syndrome |
|
|
MONDO:0865429 |
rare disease with thoracic aortic aneurysm and aortic dissection |
GARD:21130 |
MONDO:equivalentTo |
Rare disease with thoracic aortic aneurysm and aortic dissection |
|
|
MONDO:0865430 |
disorder of folate metabolism and transport |
GARD:21131 |
MONDO:equivalentTo |
Disorder of folate metabolism and transport |
|
|
MONDO:0865431 |
disorders of vitamin d metabolism |
GARD:21132 |
MONDO:equivalentTo |
Disorders of vitamin D metabolism |
|
|
MONDO:0865432 |
hypocalcemic rickets |
GARD:21133 |
MONDO:equivalentTo |
Hypocalcemic rickets |
|
|
MONDO:0865433 |
early-onset epileptic encephalopathy and intellectual disability due to grin2a mutation |
GARD:21134 |
MONDO:equivalentTo |
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation |
|
|
MONDO:0865434 |
infective dermatitis associated with htlv-1 |
GARD:21135 |
MONDO:equivalentTo |
Infective dermatitis associated with HTLV-1 |
|
|
MONDO:0865435 |
primary non-gestational choriocarcinoma of ovary |
GARD:21136 |
MONDO:equivalentTo |
Primary non-gestational choriocarcinoma of ovary |
|
|
MONDO:0865436 |
non-central nervous system-localized embryonal carcinoma |
GARD:21137 |
MONDO:equivalentTo |
Non-central nervous system-localized embryonal carcinoma |
|
|
MONDO:0865437 |
malignancy diagnosed during pregnancy |
GARD:21138 |
MONDO:equivalentTo |
Malignancy diagnosed during pregnancy |
|
|
MONDO:0865438 |
pyoderma gangrenosum-acne-suppurative hidradenitis syndrome |
GARD:21139 |
MONDO:equivalentTo |
Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome |
|
|
MONDO:0865439 |
4h leukodystrophy |
GARD:21140 |
MONDO:equivalentTo |
4H leukodystrophy |
|
|
MONDO:0865440 |
12q15q21.1 microdeletion syndrome |
GARD:21141 |
MONDO:equivalentTo |
12q15q21.1 microdeletion syndrome |
|
|
MONDO:0865441 |
microtriplication 11q24.1 |
GARD:21142 |
MONDO:equivalentTo |
Microtriplication 11q24.1 |
|
|
MONDO:0865442 |
inherited isolated adrenal insufficiency due to partial cyp11a1 deficiency |
GARD:21143 |
MONDO:equivalentTo |
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency |
|
|
MONDO:0865443 |
juvenile nasopharyngeal angiofibroma |
GARD:21144 |
MONDO:equivalentTo |
Juvenile nasopharyngeal angiofibroma |
|
|
MONDO:0865444 |
rare virus associated tumor |
GARD:21145 |
MONDO:equivalentTo |
Rare virus associated tumor |
|
|
MONDO:0865445 |
epstein-barr virus-related tumor |
GARD:21146 |
MONDO:equivalentTo |
Epstein-Barr Virus-related tumor |
|
|
MONDO:0865446 |
epstein-barr virus-associated malignant lymphoproliferative disorder |
GARD:21147 |
MONDO:equivalentTo |
Epstein-Barr virus-associated malignant lymphoproliferative disorder |
|
|
MONDO:0865447 |
epstein-barr virus-associated carcinoma |
GARD:21148 |
MONDO:equivalentTo |
Epstein-Barr Virus-associated carcinoma |
|
|
MONDO:0865448 |
epstein-barr virus-associated mesenchymal tumor |
GARD:21149 |
MONDO:equivalentTo |
Epstein-Barr Virus-associated mesenchymal tumor |
|
|
MONDO:0865449 |
epstein-barr virus-positive diffuse large b-cell lymphoma of the elderly |
GARD:21150 |
MONDO:equivalentTo |
Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly |
|
|
MONDO:0865450 |
lymphoepithelial-like carcinoma |
GARD:21151 |
MONDO:equivalentTo |
Lymphoepithelial-like carcinoma |
|
|
MONDO:0865451 |
myopericytoma |
GARD:21152 |
MONDO:equivalentTo |
Myopericytoma |
|
|
MONDO:0865452 |
late-onset primary lymphedema without systemic or visceral involvement |
GARD:21153 |
MONDO:equivalentTo |
Late-onset primary lymphedema without systemic or visceral involvement |
|
|
MONDO:0865453 |
disorder of tryptophan metabolism |
GARD:21154 |
MONDO:equivalentTo |
Disorder of tryptophan metabolism |
|
|
MONDO:0865454 |
disorder of lysine and hydroxylysine metabolism |
GARD:21155 |
MONDO:equivalentTo |
Disorder of lysine and hydroxylysine metabolism |
|
|
MONDO:0865455 |
disorder of glutamine metabolism |
GARD:21156 |
MONDO:equivalentTo |
Disorder of glutamine metabolism |
|
|
MONDO:0865456 |
disorder of proline metabolism |
GARD:21157 |
MONDO:equivalentTo |
Disorder of proline metabolism |
|
|
MONDO:0865457 |
disorder of ornithine metabolism |
GARD:21158 |
MONDO:equivalentTo |
Disorder of ornithine metabolism |
|
|
MONDO:0865458 |
transient hyperammonemia of the newborn |
GARD:21159 |
MONDO:equivalentTo |
Transient hyperammonemia of the newborn |
|
|
MONDO:0865459 |
systemic disease with skin involvement |
GARD:21160 |
MONDO:equivalentTo |
Systemic disease with skin involvement |
|
|
MONDO:0865460 |
autoinflammatory syndrome with immune deficiency |
GARD:21161 |
MONDO:equivalentTo |
Autoinflammatory syndrome with immune deficiency |
|
|
MONDO:0865461 |
autoinflammatory syndrome with skin involvement |
GARD:21162 |
MONDO:equivalentTo |
Autoinflammatory syndrome with skin involvement |
|
|
MONDO:0865462 |
rare head and neck tumor |
GARD:21163 |
MONDO:equivalentTo |
Rare head and neck tumor |
|
|
MONDO:0865463 |
acute generalized exanthematous pustulosis |
GARD:21164 |
MONDO:equivalentTo |
Acute generalized exanthematous pustulosis |
|
|
MONDO:0865464 |
pleomorphic rhabdomyosarcoma |
GARD:21165 |
MONDO:equivalentTo |
Pleomorphic rhabdomyosarcoma |
|
|
MONDO:0865465 |
tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria |
GARD:21166 |
MONDO:equivalentTo |
Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria |
|
|
MONDO:0865466 |
grayson-wilbrandt corneal dystrophy |
GARD:21167 |
MONDO:equivalentTo |
Grayson-Wilbrandt corneal dystrophy |
|
|
MONDO:0865467 |
pre-descemet corneal dystrophy |
GARD:21168 |
MONDO:equivalentTo |
Pre-Descemet corneal dystrophy |
|
|
MONDO:0865468 |
ketamine-induced biliary dilatation |
GARD:21169 |
MONDO:equivalentTo |
Ketamine-induced biliary dilatation |
|
|
MONDO:0865469 |
fixed drug eruption |
GARD:21170 |
MONDO:equivalentTo |
Fixed drug eruption |
|
|
MONDO:0865470 |
toxic dermatosis |
GARD:21171 |
MONDO:equivalentTo |
Toxic dermatosis |
|
|
MONDO:0865471 |
constitutional dyserythropoietic anemia |
GARD:21172 |
MONDO:equivalentTo |
Constitutional dyserythropoietic anemia |
|
|
MONDO:0865472 |
1p21.3 microdeletion syndrome |
GARD:21173 |
MONDO:equivalentTo |
1p21.3 microdeletion syndrome |
|
|
MONDO:0865473 |
hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome |
GARD:21174 |
MONDO:equivalentTo |
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome |
|
|
MONDO:0865474 |
syndactyly-nystagmus syndrome due to 2q31.1 microduplication |
GARD:21175 |
MONDO:equivalentTo |
Syndactyly-nystagmus syndrome due to 2q31.1 microduplication |
|
|
MONDO:0865475 |
rare nevus |
GARD:21176 |
MONDO:equivalentTo |
Rare nevus |
|
|
MONDO:0865476 |
multiple pterygium syndrome |
GARD:21177 |
MONDO:equivalentTo |
Multiple pterygium syndrome |
|
|
MONDO:0865477 |
chronic intestinal failure |
GARD:21178 |
MONDO:equivalentTo |
Chronic intestinal failure |
|
|
MONDO:0865478 |
amelia |
GARD:21179 |
MONDO:equivalentTo |
Amelia |
|
|
MONDO:0865479 |
intercalary limb defects |
GARD:21180 |
MONDO:equivalentTo |
Intercalary limb defects |
|
|
MONDO:0865480 |
congenital deformities of limbs |
GARD:21181 |
MONDO:equivalentTo |
Congenital deformities of limbs |
|
|
MONDO:0865481 |
congenital deformities of fingers |
GARD:21182 |
MONDO:equivalentTo |
Congenital deformities of fingers |
|
|
MONDO:0865482 |
joint formation defects |
GARD:21183 |
MONDO:equivalentTo |
Joint formation defects |
|
|
MONDO:0865483 |
congenital joint dislocations |
GARD:21184 |
MONDO:equivalentTo |
Congenital joint dislocations |
|
|
MONDO:0865484 |
non syndromic limb overgrowth |
GARD:21185 |
MONDO:equivalentTo |
Non syndromic limb overgrowth |
|
|
MONDO:0865485 |
syndrome with limb reduction defects |
GARD:21186 |
MONDO:equivalentTo |
Syndrome with limb reduction defects |
|
|
MONDO:0865486 |
dysostosis with combined reduction defects of upper and lower limbs |
GARD:21187 |
MONDO:equivalentTo |
Dysostosis with combined reduction defects of upper and lower limbs |
|
|
MONDO:0865487 |
syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy |
GARD:21188 |
MONDO:equivalentTo |
Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy |
|
|
MONDO:0865488 |
popliteal pterygium syndrome |
GARD:21189 |
MONDO:equivalentTo |
Popliteal pterygium syndrome |
|
|
MONDO:0865489 |
amelia of upper limb |
GARD:21190 |
MONDO:equivalentTo |
Amelia of upper limb |
|
|
MONDO:0865490 |
amelia of lower limb |
GARD:21191 |
MONDO:equivalentTo |
Amelia of lower limb |
|
|
MONDO:0865491 |
humeral agenesis/hypoplasia |
GARD:21192 |
MONDO:equivalentTo |
Humeral agenesis/hypoplasia |
|
|
MONDO:0865492 |
congenital absence of thigh and lower leg with foot present |
GARD:21193 |
MONDO:equivalentTo |
Congenital absence of thigh and lower leg with foot present |
|
|
MONDO:0865493 |
congenital absence of both forearm and hand |
GARD:21194 |
MONDO:equivalentTo |
Congenital absence of both forearm and hand |
|
|
MONDO:0865494 |
congenital absence of both lower leg and foot |
GARD:21195 |
MONDO:equivalentTo |
Congenital absence of both lower leg and foot |
|
|
MONDO:0865495 |
acheiria |
GARD:21196 |
MONDO:equivalentTo |
Acheiria |
|
|
MONDO:0865496 |
apodia |
GARD:21197 |
MONDO:equivalentTo |
Apodia |
|
|
MONDO:0865497 |
congenital hypoplasia of thumb |
GARD:21198 |
MONDO:equivalentTo |
Congenital hypoplasia of thumb |
|
|
MONDO:0865498 |
hyperphalangy |
GARD:21199 |
MONDO:equivalentTo |
Hyperphalangy |
|
|
MONDO:0865499 |
oculodental syndrome, rutherfurd type |
GARD:212 |
MONDO:equivalentTo |
Oculodental syndrome, Rutherfurd type |
|
|
MONDO:0865500 |
central polydactyly |
GARD:21200 |
MONDO:equivalentTo |
Central polydactyly |
|
|
MONDO:0865501 |
syndactyly type 6 |
GARD:21201 |
MONDO:equivalentTo |
Syndactyly type 6 |
|
|
MONDO:0865502 |
familial isolated clinodactyly of fingers |
GARD:21202 |
MONDO:equivalentTo |
Familial isolated clinodactyly of fingers |
|
|
MONDO:0865503 |
congenital pseudoarthrosis of the tibia |
GARD:21203 |
MONDO:equivalentTo |
Congenital pseudoarthrosis of the tibia |
|
|
MONDO:0865504 |
congenital pseudoarthrosis of the femur |
GARD:21204 |
MONDO:equivalentTo |
Congenital pseudoarthrosis of the femur |
|
|
MONDO:0865505 |
congenital pseudoarthrosis of the fibula |
GARD:21205 |
MONDO:equivalentTo |
Congenital pseudoarthrosis of the fibula |
|
|
MONDO:0865506 |
congenital pseudoarthrosis of the radius |
GARD:21206 |
MONDO:equivalentTo |
Congenital pseudoarthrosis of the radius |
|
|
MONDO:0865507 |
congenital pseudoarthrosis of the ulna |
GARD:21207 |
MONDO:equivalentTo |
Congenital pseudoarthrosis of the ulna |
|
|
MONDO:0865508 |
tibio-fibular synostosis |
GARD:21208 |
MONDO:equivalentTo |
Tibio-fibular synostosis |
|
|
MONDO:0865509 |
true congenital shoulder dislocation |
GARD:21209 |
MONDO:equivalentTo |
True congenital shoulder dislocation |
|
|
MONDO:0865510 |
isolated congenital radial head dislocation |
GARD:21210 |
MONDO:equivalentTo |
Isolated congenital radial head dislocation |
|
|
MONDO:0865511 |
congenital knee dislocation |
GARD:21211 |
MONDO:equivalentTo |
Congenital knee dislocation |
|
|
MONDO:0865512 |
upper limb hypertrophy |
GARD:21212 |
MONDO:equivalentTo |
Upper limb hypertrophy |
|
|
MONDO:0865513 |
lower limb hypertrophy |
GARD:21213 |
MONDO:equivalentTo |
Lower limb hypertrophy |
|
|
MONDO:0865514 |
zygodactyly type 2 |
GARD:21214 |
MONDO:equivalentTo |
Zygodactyly type 2 |
|
|
MONDO:0865515 |
zygodactyly type 3 |
GARD:21215 |
MONDO:equivalentTo |
Zygodactyly type 3 |
|
|
MONDO:0865516 |
zygodactyly type 4 |
GARD:21216 |
MONDO:equivalentTo |
Zygodactyly type 4 |
|
|
MONDO:0865517 |
congenital vertical talus, unilateral |
GARD:21217 |
MONDO:equivalentTo |
Congenital vertical talus, unilateral |
|
|
MONDO:0865518 |
congenital vertical talus, bilateral |
GARD:21218 |
MONDO:equivalentTo |
Congenital vertical talus, bilateral |
|
|
MONDO:0865519 |
humero-ulnar synostosis, unilateral |
GARD:21219 |
MONDO:equivalentTo |
Humero-ulnar synostosis, unilateral |
|
|
MONDO:0865520 |
humero-ulnar synostosis, bilateral |
GARD:21220 |
MONDO:equivalentTo |
Humero-ulnar synostosis, bilateral |
|
|
MONDO:0865521 |
radio-ulnar synostosis, unilateral |
GARD:21221 |
MONDO:equivalentTo |
Radio-ulnar synostosis, unilateral |
|
|
MONDO:0865522 |
radio-ulnar synostosis, bilateral |
GARD:21222 |
MONDO:equivalentTo |
Radio-ulnar synostosis, bilateral |
|
|
MONDO:0865523 |
congenital elbow dislocation, unilateral |
GARD:21223 |
MONDO:equivalentTo |
Congenital elbow dislocation, unilateral |
|
|
MONDO:0865524 |
congenital elbow dislocation, bilateral |
GARD:21224 |
MONDO:equivalentTo |
Congenital elbow dislocation, bilateral |
|
|
MONDO:0865525 |
congenital genu recurvatum |
GARD:21225 |
MONDO:equivalentTo |
Congenital genu recurvatum |
|
|
MONDO:0865526 |
congenital genu flexum |
GARD:21226 |
MONDO:equivalentTo |
Congenital genu flexum |
|
|
MONDO:0865527 |
macrodactyly of fingers, unilateral |
GARD:21227 |
MONDO:equivalentTo |
Macrodactyly of fingers, unilateral |
|
|
MONDO:0865528 |
macrodactyly of fingers, bilateral |
GARD:21228 |
MONDO:equivalentTo |
Macrodactyly of fingers, bilateral |
|
|
MONDO:0865529 |
macrodactyly of toes, unilateral |
GARD:21229 |
MONDO:equivalentTo |
Macrodactyly of toes, unilateral |
|
|
MONDO:0865530 |
eng-strom syndrome |
GARD:2123 |
MONDO:equivalentTo |
Eng-Strom syndrome |
|
|
MONDO:0865531 |
macrodactyly of toes, bilateral |
GARD:21230 |
MONDO:equivalentTo |
Macrodactyly of toes, bilateral |
|
|
MONDO:0865532 |
disorder of thiamine metabolism and transport |
GARD:21231 |
MONDO:equivalentTo |
Disorder of thiamine metabolism and transport |
|
|
MONDO:0865533 |
11p15.4 microduplication syndrome |
GARD:21232 |
MONDO:equivalentTo |
11p15.4 microduplication syndrome |
|
|
MONDO:0865534 |
sagliker syndrome |
GARD:21233 |
MONDO:equivalentTo |
Sagliker syndrome |
|
|
MONDO:0865535 |
onychomatricoma |
GARD:21234 |
MONDO:equivalentTo |
Onychomatricoma |
|
|
MONDO:0865536 |
rare nail tumor |
GARD:21235 |
MONDO:equivalentTo |
Rare nail tumor |
|
|
MONDO:0865537 |
follicular cholangitis and pancreatitis |
GARD:21236 |
MONDO:equivalentTo |
Follicular cholangitis and pancreatitis |
|
|
MONDO:0865538 |
carcinoma of the ampulla of vater |
GARD:21237 |
MONDO:equivalentTo |
Carcinoma of the ampulla of Vater |
|
|
MONDO:0865539 |
combined pulmonary fibrosis-emphysema syndrome |
GARD:21238 |
MONDO:equivalentTo |
Combined pulmonary fibrosis-emphysema syndrome |
|
|
MONDO:0865540 |
staphylococcal toxemia |
GARD:21239 |
MONDO:equivalentTo |
Staphylococcal toxemia |
|
|
MONDO:0865541 |
laminopathy with striated muscle involvement |
GARD:21240 |
MONDO:equivalentTo |
Laminopathy with striated muscle involvement |
|
|
MONDO:0865542 |
laminopathy with peripheral neuropathy |
GARD:21241 |
MONDO:equivalentTo |
Laminopathy with peripheral neuropathy |
|
|
MONDO:0865543 |
laminopathy with lipodystrophy |
GARD:21242 |
MONDO:equivalentTo |
Laminopathy with lipodystrophy |
|
|
MONDO:0865544 |
laminopathy with premature aging |
GARD:21243 |
MONDO:equivalentTo |
Laminopathy with premature aging |
|
|
MONDO:0865545 |
indolent b-cell non-hodgkin lymphoma |
GARD:21244 |
MONDO:equivalentTo |
Indolent B-cell non-Hodgkin lymphoma |
|
|
MONDO:0865546 |
aggressive b-cell non-hodgkin lymphoma |
GARD:21245 |
MONDO:equivalentTo |
Aggressive B-cell non-Hodgkin lymphoma |
|
|
MONDO:0865547 |
diffuse large b-cell lymphoma of the central nervous system |
GARD:21246 |
MONDO:equivalentTo |
Diffuse large B-cell lymphoma of the central nervous system |
|
|
MONDO:0865548 |
primary cutaneous anaplastic large cell lymphoma |
GARD:21247 |
MONDO:equivalentTo |
Primary cutaneous anaplastic large cell lymphoma |
|
|
MONDO:0865549 |
splenic diffuse red pulp small b-cell lymphoma |
GARD:21248 |
MONDO:equivalentTo |
Splenic diffuse red pulp small B-cell lymphoma |
|
|
MONDO:0865550 |
hairy cell leukemia variant |
GARD:21249 |
MONDO:equivalentTo |
Hairy cell leukemia variant |
|
|
MONDO:0865551 |
glycogen storage disease due to muscle beta-enolase deficiency |
GARD:2125 |
MONDO:equivalentTo |
Glycogen storage disease due to muscle beta-enolase deficiency |
|
|
MONDO:0865552 |
diffuse large b-cell lymphoma with chronic inflammation |
GARD:21250 |
MONDO:equivalentTo |
Diffuse large B-cell lymphoma with chronic inflammation |
|
|
MONDO:0865553 |
alk-positive anaplastic large cell lymphoma |
GARD:21251 |
MONDO:equivalentTo |
ALK-positive anaplastic large cell lymphoma |
|
|
MONDO:0865554 |
alk-negative anaplastic large cell lymphoma |
GARD:21252 |
MONDO:equivalentTo |
ALK-negative anaplastic large cell lymphoma |
|
|
MONDO:0865555 |
pituitary tumor |
GARD:21253 |
MONDO:equivalentTo |
Pituitary tumor |
|
|
MONDO:0865556 |
primary hypomagnesemia with hypercalciuria and nephrocalcinosis |
GARD:21254 |
MONDO:equivalentTo |
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis |
|
|
MONDO:0865557 |
myospherulosis |
GARD:21255 |
MONDO:equivalentTo |
Myospherulosis |
|
|
MONDO:0865558 |
rare tumor of gallbladder and extrahepatic biliary tract |
GARD:21256 |
MONDO:equivalentTo |
Rare tumor of gallbladder and extrahepatic biliary tract |
|
|
MONDO:0865559 |
rare tumor of liver and intrahepatic biliary tract |
GARD:21257 |
MONDO:equivalentTo |
Rare tumor of liver and intrahepatic biliary tract |
|
|
MONDO:0865560 |
rare intoxication due to medical products |
GARD:21258 |
MONDO:equivalentTo |
Rare intoxication due to medical products |
|
|
MONDO:0865561 |
complication after organ transplantation |
GARD:21259 |
MONDO:equivalentTo |
Complication after organ transplantation |
|
|
MONDO:0865562 |
non-infectious anterior uveitis |
GARD:21260 |
MONDO:equivalentTo |
Non-infectious anterior uveitis |
|
|
MONDO:0865563 |
rare parkinsonian syndrome due to neurodegenerative disease |
GARD:21261 |
MONDO:equivalentTo |
Rare parkinsonian syndrome due to neurodegenerative disease |
|
|
MONDO:0865564 |
hemiparkinsonism-hemiatrophy syndrome |
GARD:21262 |
MONDO:equivalentTo |
Hemiparkinsonism-hemiatrophy syndrome |
|
|
MONDO:0865565 |
rare parkinsonian syndrome due to intoxication |
GARD:21263 |
MONDO:equivalentTo |
Rare parkinsonian syndrome due to intoxication |
|
|
MONDO:0865566 |
manganese poisoning |
GARD:21264 |
MONDO:equivalentTo |
Manganese poisoning |
|
|
MONDO:0865567 |
delayed encephalopathy due to carbon monoxide poisoning |
GARD:21265 |
MONDO:equivalentTo |
Delayed encephalopathy due to carbon monoxide poisoning |
|
|
MONDO:0865568 |
cyanide-induced parkinsonism-dystonia |
GARD:21266 |
MONDO:equivalentTo |
Cyanide-induced parkinsonism-dystonia |
|
|
MONDO:0865569 |
miscellaneous movement disorder due to neurodegenerative disease |
GARD:21267 |
MONDO:equivalentTo |
Miscellaneous movement disorder due to neurodegenerative disease |
|
|
MONDO:0865570 |
frontotemporal neurodegeneration with movement disorder |
GARD:21268 |
MONDO:equivalentTo |
Frontotemporal neurodegeneration with movement disorder |
|
|
MONDO:0865571 |
rare tremor disorder |
GARD:21269 |
MONDO:equivalentTo |
Rare tremor disorder |
|
|
MONDO:0865572 |
rare choreic movement disorder |
GARD:21270 |
MONDO:equivalentTo |
Rare choreic movement disorder |
|
|
MONDO:0865573 |
neurodegenerative disease with chorea |
GARD:21271 |
MONDO:equivalentTo |
Neurodegenerative disease with chorea |
|
|
MONDO:0865574 |
postinfectious autoimmune disease with chorea |
GARD:21272 |
MONDO:equivalentTo |
Postinfectious autoimmune disease with chorea |
|
|
MONDO:0865575 |
hemidystonia-hemiatrophy syndrome |
GARD:21273 |
MONDO:equivalentTo |
Hemidystonia-hemiatrophy syndrome |
|
|
MONDO:0865576 |
rare myoclonus |
GARD:21274 |
MONDO:equivalentTo |
Rare myoclonus |
|
|
MONDO:0865577 |
primary myoclonus |
GARD:21275 |
MONDO:equivalentTo |
Primary myoclonus |
|
|
MONDO:0865578 |
rare disease with myoclonus as a major feature |
GARD:21276 |
MONDO:equivalentTo |
Rare disease with myoclonus as a major feature |
|
|
MONDO:0865579 |
epilepsy and/or ataxia with myoclonus as a major feature |
GARD:21277 |
MONDO:equivalentTo |
Epilepsy and/or ataxia with myoclonus as a major feature |
|
|
MONDO:0865580 |
non progressive epilepsy and/or ataxia with myoclonus as a major feature |
GARD:21278 |
MONDO:equivalentTo |
Non progressive epilepsy and/or ataxia with myoclonus as a major feature |
|
|
MONDO:0865581 |
motor stereotypies |
GARD:21279 |
MONDO:equivalentTo |
Motor stereotypies |
|
|
MONDO:0865582 |
rare paroxysmal movement disorder |
GARD:21280 |
MONDO:equivalentTo |
Rare paroxysmal movement disorder |
|
|
MONDO:0865583 |
hyperekplexia |
GARD:21281 |
MONDO:equivalentTo |
Hyperekplexia |
|
|
MONDO:0865584 |
sporadic hyperekplexia |
GARD:21282 |
MONDO:equivalentTo |
Sporadic hyperekplexia |
|
|
MONDO:0865585 |
rare genetic parkinsonian disorder |
GARD:21283 |
MONDO:equivalentTo |
Rare genetic parkinsonian disorder |
|
|
MONDO:0865586 |
rare parkinsonian syndrome due to genetic neurodegenerative disease |
GARD:21284 |
MONDO:equivalentTo |
Rare parkinsonian syndrome due to genetic neurodegenerative disease |
|
|
MONDO:0865587 |
miscellaneous movement disorder due to genetic neurodegenerative disease |
GARD:21285 |
MONDO:equivalentTo |
Miscellaneous movement disorder due to genetic neurodegenerative disease |
|
|
MONDO:0865588 |
rare genetic tremor disorder |
GARD:21286 |
MONDO:equivalentTo |
Rare genetic tremor disorder |
|
|
MONDO:0865589 |
rare genetic myoclonus |
GARD:21287 |
MONDO:equivalentTo |
Rare genetic myoclonus |
|
|
MONDO:0865590 |
rare genetic disease with myoclonus as a major feature |
GARD:21288 |
MONDO:equivalentTo |
Rare genetic disease with myoclonus as a major feature |
|
|
MONDO:0865591 |
diffuse palmoplantar keratoderma |
GARD:21289 |
MONDO:equivalentTo |
Diffuse palmoplantar keratoderma |
|
|
MONDO:0865592 |
isolated diffuse palmoplantar keratoderma |
GARD:21290 |
MONDO:equivalentTo |
Isolated diffuse palmoplantar keratoderma |
|
|
MONDO:0865593 |
disease with diffuse palmoplantar keratoderma as a major feature |
GARD:21291 |
MONDO:equivalentTo |
Disease with diffuse palmoplantar keratoderma as a major feature |
|
|
MONDO:0865594 |
autosomal dominant diffuse mutilating palmoplantar keratoderma |
GARD:21292 |
MONDO:equivalentTo |
Autosomal dominant diffuse mutilating palmoplantar keratoderma |
|
|
MONDO:0865595 |
autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature |
GARD:21293 |
MONDO:equivalentTo |
Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature |
|
|
MONDO:0865596 |
focal palmoplantar keratoderma |
GARD:21294 |
MONDO:equivalentTo |
Focal palmoplantar keratoderma |
|
|
MONDO:0865597 |
isolated focal palmoplantar keratoderma |
GARD:21295 |
MONDO:equivalentTo |
Isolated focal palmoplantar keratoderma |
|
|
MONDO:0865598 |
disease with focal palmoplantar keratoderma as a major feature |
GARD:21296 |
MONDO:equivalentTo |
Disease with focal palmoplantar keratoderma as a major feature |
|
|
MONDO:0865599 |
punctate palmoplantar keratoderma |
GARD:21297 |
MONDO:equivalentTo |
Punctate palmoplantar keratoderma |
|
|
MONDO:0865600 |
marginal papular palmoplantar keratoderma |
GARD:21298 |
MONDO:equivalentTo |
Marginal papular palmoplantar keratoderma |
|
|
MONDO:0865601 |
focal acral hyperkeratosis |
GARD:21299 |
MONDO:equivalentTo |
Focal acral hyperkeratosis |
|
|
MONDO:0865602 |
axial mesodermal dysplasia spectrum |
GARD:213 |
MONDO:equivalentTo |
Axial mesodermal dysplasia spectrum |
|
|
MONDO:0865603 |
congenital enterovirus infection |
GARD:2130 |
MONDO:equivalentTo |
Congenital enterovirus infection |
|
|
MONDO:0865604 |
disease with punctate palmoplantar keratoderma as a major feature |
GARD:21300 |
MONDO:equivalentTo |
Disease with punctate palmoplantar keratoderma as a major feature |
|
|
MONDO:0865605 |
autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature |
GARD:21301 |
MONDO:equivalentTo |
Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature |
|
|
MONDO:0865606 |
autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature |
GARD:21302 |
MONDO:equivalentTo |
Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature |
|
|
MONDO:0865607 |
disorder of beta and omega amino acid metabolism |
GARD:21303 |
MONDO:equivalentTo |
Disorder of beta and omega amino acid metabolism |
|
|
MONDO:0865608 |
aminoacylase deficiency |
GARD:21304 |
MONDO:equivalentTo |
Aminoacylase deficiency |
|
|
MONDO:0865609 |
disorder of neutral amino acid transport |
GARD:21305 |
MONDO:equivalentTo |
Disorder of neutral amino acid transport |
|
|
MONDO:0865610 |
disorder of glycolysis |
GARD:21306 |
MONDO:equivalentTo |
Disorder of glycolysis |
|
|
MONDO:0865611 |
disorder of fructose metabolism |
GARD:21307 |
MONDO:equivalentTo |
Disorder of fructose metabolism |
|
|
MONDO:0865612 |
disorder of galactose metabolism |
GARD:21308 |
MONDO:equivalentTo |
Disorder of galactose metabolism |
|
|
MONDO:0865613 |
glycogen storage disease due to glycogen synthase deficiency |
GARD:21309 |
MONDO:equivalentTo |
Glycogen storage disease due to glycogen synthase deficiency |
|
|
MONDO:0865614 |
glycogen storage disease due to acid maltase deficiency, infantile onset |
GARD:21310 |
MONDO:equivalentTo |
Glycogen storage disease due to acid maltase deficiency, infantile onset |
|
|
MONDO:0865615 |
glycerol kinase deficiency |
GARD:21311 |
MONDO:equivalentTo |
Glycerol kinase deficiency |
|
|
MONDO:0865616 |
disorder of glyoxylate metabolism |
GARD:21312 |
MONDO:equivalentTo |
Disorder of glyoxylate metabolism |
|
|
MONDO:0865617 |
disorder of carbohydrate absorption and transport |
GARD:21313 |
MONDO:equivalentTo |
Disorder of carbohydrate absorption and transport |
|
|
MONDO:0865618 |
disorder of lipid metabolism |
GARD:21314 |
MONDO:equivalentTo |
Disorder of lipid metabolism |
|
|
MONDO:0865619 |
mevalonate kinase deficiency |
GARD:21315 |
MONDO:equivalentTo |
Mevalonate kinase deficiency |
|
|
MONDO:0865620 |
disorder of lipid absorption and transport |
GARD:21316 |
MONDO:equivalentTo |
Disorder of lipid absorption and transport |
|
|
MONDO:0865621 |
disorder of fatty acid oxidation and ketogenesis |
GARD:21317 |
MONDO:equivalentTo |
Disorder of fatty acid oxidation and ketogenesis |
|
|
MONDO:0865622 |
acyl-coa dehydrogenase deficiency |
GARD:21318 |
MONDO:equivalentTo |
Acyl-CoA dehydrogenase deficiency |
|
|
MONDO:0865623 |
3-hydroxyacyl-coa dehydrogenase deficiency |
GARD:21319 |
MONDO:equivalentTo |
3-hydroxyacyl-CoA dehydrogenase deficiency |
|
|
MONDO:0865624 |
disorder of carnitine cycle and carnitine transport |
GARD:21320 |
MONDO:equivalentTo |
Disorder of carnitine cycle and carnitine transport |
|
|
MONDO:0865625 |
metabolic disease due to other fatty acid oxidation disorder |
GARD:21321 |
MONDO:equivalentTo |
Metabolic disease due to other fatty acid oxidation disorder |
|
|
MONDO:0865626 |
mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes |
GARD:21322 |
MONDO:equivalentTo |
Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes |
|
|
MONDO:0865627 |
gm2 gangliosidosis |
GARD:21323 |
MONDO:equivalentTo |
GM2 gangliosidosis |
|
|
MONDO:0865628 |
tay-sachs disease, b variant, infantile form |
GARD:21324 |
MONDO:equivalentTo |
Tay-Sachs disease, B variant, infantile form |
|
|
MONDO:0865629 |
tay-sachs disease, b variant, juvenile form |
GARD:21325 |
MONDO:equivalentTo |
Tay-Sachs disease, B variant, juvenile form |
|
|
MONDO:0865630 |
tay-sachs disease, b variant, adult form |
GARD:21326 |
MONDO:equivalentTo |
Tay-Sachs disease, B variant, adult form |
|
|
MONDO:0865631 |
tay-sachs disease, b1 variant |
GARD:21327 |
MONDO:equivalentTo |
Tay-Sachs disease, B1 variant |
|
|
MONDO:0865632 |
metachromatic leukodystrophy, late infantile form |
GARD:21328 |
MONDO:equivalentTo |
Metachromatic leukodystrophy, late infantile form |
|
|
MONDO:0865633 |
metachromatic leukodystrophy, juvenile form |
GARD:21329 |
MONDO:equivalentTo |
Metachromatic leukodystrophy, juvenile form |
|
|
MONDO:0865634 |
metachromatic leukodystrophy, adult form |
GARD:21330 |
MONDO:equivalentTo |
Metachromatic leukodystrophy, adult form |
|
|
MONDO:0865635 |
sialidosis |
GARD:21331 |
MONDO:equivalentTo |
Sialidosis |
|
|
MONDO:0865636 |
disorder of sialic acid metabolism |
GARD:21332 |
MONDO:equivalentTo |
Disorder of sialic acid metabolism |
|
|
MONDO:0865637 |
lysosomal glycogen storage disease |
GARD:21333 |
MONDO:equivalentTo |
Lysosomal glycogen storage disease |
|
|
MONDO:0865638 |
disorder of lysosomal-related organelles |
GARD:21334 |
MONDO:equivalentTo |
Disorder of lysosomal-related organelles |
|
|
MONDO:0865639 |
disorder of protein n-glycosylation |
GARD:21335 |
MONDO:equivalentTo |
Disorder of protein N-glycosylation |
|
|
MONDO:0865640 |
disorder of protein o-glycosylation |
GARD:21336 |
MONDO:equivalentTo |
Disorder of protein O-glycosylation |
|
|
MONDO:0865641 |
disorder of o-xylosylglycan synthesis |
GARD:21337 |
MONDO:equivalentTo |
Disorder of O-xylosylglycan synthesis |
|
|
MONDO:0865642 |
disorder of o-n-acetylgalactosaminylglycan synthesis |
GARD:21338 |
MONDO:equivalentTo |
Disorder of O-N-acetylgalactosaminylglycan synthesis |
|
|
MONDO:0865643 |
disorder of o-xylosyl/n-acetylgalactosaminylglycan synthesis |
GARD:21339 |
MONDO:equivalentTo |
Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis |
|
|
MONDO:0865644 |
disorder of o-mannosylglycan synthesis |
GARD:21340 |
MONDO:equivalentTo |
Disorder of O-mannosylglycan synthesis |
|
|
MONDO:0865645 |
disorder of fucoglycosan synthesis |
GARD:21341 |
MONDO:equivalentTo |
Disorder of fucoglycosan synthesis |
|
|
MONDO:0865646 |
disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation |
GARD:21342 |
MONDO:equivalentTo |
Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation |
|
|
MONDO:0865647 |
disorder of multiple glycosylation |
GARD:21343 |
MONDO:equivalentTo |
Disorder of multiple glycosylation |
|
|
MONDO:0865648 |
defect in conserved oligomeric golgi complex |
GARD:21344 |
MONDO:equivalentTo |
Defect in conserved oligomeric Golgi complex |
|
|
MONDO:0865649 |
defect in v-atpase |
GARD:21345 |
MONDO:equivalentTo |
Defect in V-ATPase |
|
|
MONDO:0865650 |
disorder of porphyrin and heme metabolism |
GARD:21346 |
MONDO:equivalentTo |
Disorder of porphyrin and heme metabolism |
|
|
MONDO:0865651 |
disorder of bilirubin metabolism and excretion |
GARD:21347 |
MONDO:equivalentTo |
Disorder of bilirubin metabolism and excretion |
|
|
MONDO:0865652 |
disorder of pterin metabolism |
GARD:21348 |
MONDO:equivalentTo |
Disorder of pterin metabolism |
|
|
MONDO:0865653 |
disorder of metabolite absorption and transport |
GARD:21349 |
MONDO:equivalentTo |
Disorder of metabolite absorption and transport |
|
|
MONDO:0865654 |
disorder of vitamin and non-protein cofactor absorption and transport |
GARD:21350 |
MONDO:equivalentTo |
Disorder of vitamin and non-protein cofactor absorption and transport |
|
|
MONDO:0865655 |
disorder of catecholamine synthesis |
GARD:21351 |
MONDO:equivalentTo |
Disorder of catecholamine synthesis |
|
|
MONDO:0865656 |
disorder of other vitamins and cofactors metabolism and transport |
GARD:21352 |
MONDO:equivalentTo |
Disorder of other vitamins and cofactors metabolism and transport |
|
|
MONDO:0865657 |
disorder of mineral absorption and transport |
GARD:21353 |
MONDO:equivalentTo |
Disorder of mineral absorption and transport |
|
|
MONDO:0865658 |
disorder of copper metabolism |
GARD:21354 |
MONDO:equivalentTo |
Disorder of copper metabolism |
|
|
MONDO:0865659 |
disorder of iron metabolism and transport |
GARD:21355 |
MONDO:equivalentTo |
Disorder of iron metabolism and transport |
|
|
MONDO:0865660 |
disorder of zinc metabolism and transport |
GARD:21356 |
MONDO:equivalentTo |
Disorder of zinc metabolism and transport |
|
|
MONDO:0865661 |
disorder of magnesium transport |
GARD:21357 |
MONDO:equivalentTo |
Disorder of magnesium transport |
|
|
MONDO:0865662 |
disorder of manganese transport |
GARD:21358 |
MONDO:equivalentTo |
Disorder of manganese transport |
|
|
MONDO:0865663 |
acquired immunodeficiency |
GARD:21359 |
MONDO:equivalentTo |
Acquired immunodeficiency |
|
|
MONDO:0865664 |
20p13 microdeletion syndrome |
GARD:21360 |
MONDO:equivalentTo |
20p13 microdeletion syndrome |
|
|
MONDO:0865665 |
congenital pancreatic cyst |
GARD:21361 |
MONDO:equivalentTo |
Congenital pancreatic cyst |
|
|
MONDO:0865666 |
epstein-barr virus-associated gastric carcinoma |
GARD:21362 |
MONDO:equivalentTo |
Epstein-Barr virus-associated gastric carcinoma |
|
|
MONDO:0865667 |
2q23.1 microduplication syndrome |
GARD:21363 |
MONDO:equivalentTo |
2q23.1 microduplication syndrome |
|
|
MONDO:0865668 |
contractures-webbed neck-micrognathia-hypoplastic nipples syndrome |
GARD:21364 |
MONDO:equivalentTo |
Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome |
|
|
MONDO:0865669 |
idiopathic linear interstitial keratitis |
GARD:21365 |
MONDO:equivalentTo |
Idiopathic linear interstitial keratitis |
|
|
MONDO:0865670 |
high bone mass osteogenesis imperfecta |
GARD:21366 |
MONDO:equivalentTo |
High bone mass osteogenesis imperfecta |
|
|
MONDO:0865671 |
7p22.1 microduplication syndrome |
GARD:21367 |
MONDO:equivalentTo |
7p22.1 microduplication syndrome |
|
|
MONDO:0865672 |
marfanoid habitus-inguinal hernia-advanced bone age syndrome |
GARD:21368 |
MONDO:equivalentTo |
Marfanoid habitus-inguinal hernia-advanced bone age syndrome |
|
|
MONDO:0865673 |
xq12-q13.3 duplication syndrome |
GARD:21369 |
MONDO:equivalentTo |
Xq12-q13.3 duplication syndrome |
|
|
MONDO:0865674 |
epidermolysis bullosa simplex with muscular dystrophy |
GARD:2137 |
MONDO:equivalentTo |
Epidermolysis bullosa simplex with muscular dystrophy |
|
|
MONDO:0865675 |
rare odontogenic tumor |
GARD:21370 |
MONDO:equivalentTo |
Rare odontogenic tumor |
|
|
MONDO:0865676 |
spigelian hernia-cryptorchidism syndrome |
GARD:21371 |
MONDO:equivalentTo |
Spigelian hernia-cryptorchidism syndrome |
|
|
MONDO:0865677 |
meigs syndrome |
GARD:21372 |
MONDO:equivalentTo |
Meigs syndrome |
|
|
MONDO:0865678 |
pseudo-meigs syndrome |
GARD:21373 |
MONDO:equivalentTo |
Pseudo-Meigs syndrome |
|
|
MONDO:0865679 |
atypical meigs syndrome |
GARD:21374 |
MONDO:equivalentTo |
Atypical Meigs syndrome |
|
|
MONDO:0865680 |
ovarian fibroma |
GARD:21375 |
MONDO:equivalentTo |
Ovarian fibroma |
|
|
MONDO:0865681 |
ovarian fibrothecoma |
GARD:21376 |
MONDO:equivalentTo |
Ovarian fibrothecoma |
|
|
MONDO:0865682 |
primary progressive apraxia of speech |
GARD:21377 |
MONDO:equivalentTo |
Primary progressive apraxia of speech |
|
|
MONDO:0865683 |
autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome |
GARD:21378 |
MONDO:equivalentTo |
Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome |
|
|
MONDO:0865684 |
intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome |
GARD:21379 |
MONDO:equivalentTo |
Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome |
|
|
MONDO:0865685 |
growing teratoma syndrome |
GARD:21380 |
MONDO:equivalentTo |
Growing teratoma syndrome |
|
|
MONDO:0865686 |
duplication of the pituitary gland |
GARD:21381 |
MONDO:equivalentTo |
Duplication of the pituitary gland |
|
|
MONDO:0865687 |
variant abeta2m amyloidosis |
GARD:21382 |
MONDO:equivalentTo |
Variant ABeta2M amyloidosis |
|
|
MONDO:0865688 |
severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion |
GARD:21383 |
MONDO:equivalentTo |
Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion |
|
|
MONDO:0865689 |
segmental progressive overgrowth syndrome with fibroadipose hyperplasia |
GARD:21384 |
MONDO:equivalentTo |
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia |
|
|
MONDO:0865690 |
primary bone lymphoma |
GARD:21385 |
MONDO:equivalentTo |
Primary bone lymphoma |
|
|
MONDO:0865691 |
acquired porencephaly |
GARD:21386 |
MONDO:equivalentTo |
Acquired porencephaly |
|
|
MONDO:0865692 |
primary localized amyloidosis |
GARD:21387 |
MONDO:equivalentTo |
Primary localized amyloidosis |
|
|
MONDO:0865693 |
rare disease with cushing syndrome as a major feature |
GARD:21388 |
MONDO:equivalentTo |
Rare disease with Cushing syndrome as a major feature |
|
|
MONDO:0865694 |
functioning pituitary adenoma |
GARD:21389 |
MONDO:equivalentTo |
Functioning pituitary adenoma |
|
|
MONDO:0865695 |
autosomal dominant generalized dystrophic epidermolysis bullosa |
GARD:2139 |
MONDO:equivalentTo |
Autosomal dominant generalized dystrophic epidermolysis bullosa |
|
|
MONDO:0865696 |
mixed functioning pituitary adenoma |
GARD:21390 |
MONDO:equivalentTo |
Mixed functioning pituitary adenoma |
|
|
MONDO:0865697 |
somatomammotropinoma |
GARD:21391 |
MONDO:equivalentTo |
Somatomammotropinoma |
|
|
MONDO:0865698 |
silent pituitary adenoma |
GARD:21392 |
MONDO:equivalentTo |
Silent pituitary adenoma |
|
|
MONDO:0865699 |
null pituitary adenoma |
GARD:21393 |
MONDO:equivalentTo |
Null pituitary adenoma |
|
|
MONDO:0865700 |
autosomal dominant proximal renal tubular acidosis |
GARD:21394 |
MONDO:equivalentTo |
Autosomal dominant proximal renal tubular acidosis |
|
|
MONDO:0865701 |
primary hypereosinophilic syndrome |
GARD:21395 |
MONDO:equivalentTo |
Primary hypereosinophilic syndrome |
|
|
MONDO:0865702 |
secondary hypereosinophilic syndrome |
GARD:21396 |
MONDO:equivalentTo |
Secondary hypereosinophilic syndrome |
|
|
MONDO:0865703 |
lymphocytic hypereosinophilic syndrome |
GARD:21397 |
MONDO:equivalentTo |
Lymphocytic hypereosinophilic syndrome |
|
|
MONDO:0865704 |
classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form |
GARD:21398 |
MONDO:equivalentTo |
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form |
|
|
MONDO:0865705 |
classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form |
GARD:21399 |
MONDO:equivalentTo |
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form |
|
|
MONDO:0865706 |
autoimmune disease with skin involvement |
GARD:21400 |
MONDO:equivalentTo |
Autoimmune disease with skin involvement |
|
|
MONDO:0865707 |
spastic ataxia |
GARD:21401 |
MONDO:equivalentTo |
Spastic ataxia |
|
|
MONDO:0865708 |
autosomal dominant spastic ataxia |
GARD:21402 |
MONDO:equivalentTo |
Autosomal dominant spastic ataxia |
|
|
MONDO:0865709 |
autosomal recessive spastic ataxia |
GARD:21403 |
MONDO:equivalentTo |
Autosomal recessive spastic ataxia |
|
|
MONDO:0865710 |
partial deletion of the short arm of chromosome 12 |
GARD:21404 |
MONDO:equivalentTo |
Partial deletion of the short arm of chromosome 12 |
|
|
MONDO:0865711 |
t-b+ severe combined immunodeficiency |
GARD:21405 |
MONDO:equivalentTo |
T-B+ severe combined immunodeficiency |
|
|
MONDO:0865712 |
t-b- severe combined immunodeficiency |
GARD:21406 |
MONDO:equivalentTo |
T-B- severe combined immunodeficiency |
|
|
MONDO:0865713 |
diencephalic-mesencephalic junction dysplasia |
GARD:21407 |
MONDO:equivalentTo |
Diencephalic-mesencephalic junction dysplasia |
|
|
MONDO:0865714 |
chondroectodermal dysplasia with night blindness |
GARD:21408 |
MONDO:equivalentTo |
Chondroectodermal dysplasia with night blindness |
|
|
MONDO:0865715 |
bilateral massive adrenal hemorrhage |
GARD:21409 |
MONDO:equivalentTo |
Bilateral massive adrenal hemorrhage |
|
|
MONDO:0865716 |
autosomal dominant generalized epidermolysis bullosa simplex, severe form |
GARD:2141 |
MONDO:equivalentTo |
Autosomal dominant generalized epidermolysis bullosa simplex, severe form |
|
|
MONDO:0865717 |
lujo hemorrhagic fever |
GARD:21410 |
MONDO:equivalentTo |
Lujo hemorrhagic fever |
|
|
MONDO:0865718 |
argentine hemorrhagic fever |
GARD:21411 |
MONDO:equivalentTo |
Argentine hemorrhagic fever |
|
|
MONDO:0865719 |
bolivian hemorrhagic fever |
GARD:21412 |
MONDO:equivalentTo |
Bolivian hemorrhagic fever |
|
|
MONDO:0865720 |
venezuelan hemorrhagic fever |
GARD:21413 |
MONDO:equivalentTo |
Venezuelan hemorrhagic fever |
|
|
MONDO:0865721 |
brazilian hemorrhagic fever |
GARD:21414 |
MONDO:equivalentTo |
Brazilian hemorrhagic fever |
|
|
MONDO:0865722 |
chapare hemorrhagic fever |
GARD:21415 |
MONDO:equivalentTo |
Chapare hemorrhagic fever |
|
|
MONDO:0865723 |
rift valley fever |
GARD:21416 |
MONDO:equivalentTo |
Rift valley fever |
|
|
MONDO:0865724 |
multilocular cystic renal neoplasm of low malignant potential |
GARD:21417 |
MONDO:equivalentTo |
Multilocular cystic renal neoplasm of low malignant potential |
|
|
MONDO:0865725 |
mucinous tubular and spindle cell renal carcinoma |
GARD:21418 |
MONDO:equivalentTo |
Mucinous tubular and spindle cell renal carcinoma |
|
|
MONDO:0865726 |
tubulocystic renal cell carcinoma |
GARD:21419 |
MONDO:equivalentTo |
Tubulocystic renal cell carcinoma |
|
|
MONDO:0865727 |
inherited renal cancer-predisposing syndrome |
GARD:21420 |
MONDO:equivalentTo |
Inherited renal cancer-predisposing syndrome |
|
|
MONDO:0865728 |
familial nonmedullary thyroid carcinoma |
GARD:21421 |
MONDO:equivalentTo |
Familial nonmedullary thyroid carcinoma |
|
|
MONDO:0865729 |
autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency |
GARD:21422 |
MONDO:equivalentTo |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency |
|
|
MONDO:0865730 |
autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency |
GARD:21423 |
MONDO:equivalentTo |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency |
|
|
MONDO:0865731 |
autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency |
GARD:21424 |
MONDO:equivalentTo |
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency |
|
|
MONDO:0865732 |
autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiency |
GARD:21425 |
MONDO:equivalentTo |
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency |
|
|
MONDO:0865733 |
primary lymphoma of the conjunctiva |
GARD:21426 |
MONDO:equivalentTo |
Primary lymphoma of the conjunctiva |
|
|
MONDO:0865734 |
autoinflammatory syndrome of childhood |
GARD:21427 |
MONDO:equivalentTo |
Autoinflammatory syndrome of childhood |
|
|
MONDO:0865735 |
x-linked pure spastic paraplegia |
GARD:21428 |
MONDO:equivalentTo |
X-linked pure spastic paraplegia |
|
|
MONDO:0865736 |
pure or complex hereditary spastic paraplegia |
GARD:21429 |
MONDO:equivalentTo |
Pure or complex hereditary spastic paraplegia |
|
|
MONDO:0865737 |
junctional epidermolysis bullosa inversa |
GARD:2143 |
MONDO:equivalentTo |
Junctional epidermolysis bullosa inversa |
|
|
MONDO:0865738 |
pure or complex autosomal dominant spastic paraplegia |
GARD:21430 |
MONDO:equivalentTo |
Pure or complex autosomal dominant spastic paraplegia |
|
|
MONDO:0865739 |
pure or complex autosomal recessive spastic paraplegia |
GARD:21431 |
MONDO:equivalentTo |
Pure or complex autosomal recessive spastic paraplegia |
|
|
MONDO:0865740 |
pure or complex x-linked spastic paraplegia |
GARD:21432 |
MONDO:equivalentTo |
Pure or complex X-linked spastic paraplegia |
|
|
MONDO:0865741 |
mt-atp6-related mitochondrial spastic paraplegia |
GARD:21433 |
MONDO:equivalentTo |
MT-ATP6-related mitochondrial spastic paraplegia |
|
|
MONDO:0865742 |
genetic tumor of hematopoietic and lymphoid tissues |
GARD:21434 |
MONDO:equivalentTo |
Genetic tumor of hematopoietic and lymphoid tissues |
|
|
MONDO:0865743 |
multiple paragangliomas associated with polycythemia |
GARD:21435 |
MONDO:equivalentTo |
Multiple paragangliomas associated with polycythemia |
|
|
MONDO:0865744 |
severe lateral tibial bowing with short stature |
GARD:21436 |
MONDO:equivalentTo |
Severe lateral tibial bowing with short stature |
|
|
MONDO:0865745 |
9p13 microdeletion syndrome |
GARD:21437 |
MONDO:equivalentTo |
9p13 microdeletion syndrome |
|
|
MONDO:0865746 |
congenital achiasma |
GARD:21438 |
MONDO:equivalentTo |
Congenital achiasma |
|
|
MONDO:0865747 |
mixed sclerosing bone dystrophy with extra-skeletal manifestations |
GARD:21439 |
MONDO:equivalentTo |
Mixed sclerosing bone dystrophy with extra-skeletal manifestations |
|
|
MONDO:0865748 |
hereditary inclusion body myopathy type 4 |
GARD:21440 |
MONDO:equivalentTo |
Hereditary inclusion body myopathy type 4 |
|
|
MONDO:0865749 |
muscular hypertrophy-hepatomegaly-polyhydramnios syndrome |
GARD:21441 |
MONDO:equivalentTo |
Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome |
|
|
MONDO:0865750 |
hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial dna mutation |
GARD:21442 |
MONDO:equivalentTo |
Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation |
|
|
MONDO:0865751 |
aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome |
GARD:21443 |
MONDO:equivalentTo |
Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome |
|
|
MONDO:0865752 |
hyperinsulinism due to hnf1a deficiency |
GARD:21444 |
MONDO:equivalentTo |
Hyperinsulinism due to HNF1A deficiency |
|
|
MONDO:0865753 |
benign samaritan congenital myopathy |
GARD:21445 |
MONDO:equivalentTo |
Benign Samaritan congenital myopathy |
|
|
MONDO:0865754 |
autosomal dominant intermediate charcot-marie-tooth disease with neuropathic pain |
GARD:21446 |
MONDO:equivalentTo |
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain |
|
|
MONDO:0865755 |
autosomal dominant charcot-marie-tooth disease type 2 due to kif5a mutation |
GARD:21447 |
MONDO:equivalentTo |
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation |
|
|
MONDO:0865756 |
hendra virus infection |
GARD:21448 |
MONDO:equivalentTo |
Hendra virus infection |
|
|
MONDO:0865757 |
invasive non-typhoidal salmonellosis |
GARD:21449 |
MONDO:equivalentTo |
Invasive non-typhoidal salmonellosis |
|
|
MONDO:0865758 |
microcephalic primordial dwarfism |
GARD:21450 |
MONDO:equivalentTo |
Microcephalic primordial dwarfism |
|
|
MONDO:0865759 |
trichorhinophalangeal syndrome |
GARD:21451 |
MONDO:equivalentTo |
Trichorhinophalangeal syndrome |
|
|
MONDO:0865760 |
non-familial rare disease with dilated cardiomyopathy |
GARD:21452 |
MONDO:equivalentTo |
Non-familial rare disease with dilated cardiomyopathy |
|
|
MONDO:0865761 |
hereditary periodic fever syndrome |
GARD:21453 |
MONDO:equivalentTo |
Hereditary periodic fever syndrome |
|
|
MONDO:0865762 |
pyogenic autoinflammatory syndrome |
GARD:21454 |
MONDO:equivalentTo |
Pyogenic autoinflammatory syndrome |
|
|
MONDO:0865763 |
granulomatous autoinflammatory syndrome |
GARD:21455 |
MONDO:equivalentTo |
Granulomatous autoinflammatory syndrome |
|
|
MONDO:0865764 |
mixed autoinflammatory and autoimmune syndrome |
GARD:21456 |
MONDO:equivalentTo |
Mixed autoinflammatory and autoimmune syndrome |
|
|
MONDO:0865765 |
unclassified autoinflammatory syndrome |
GARD:21457 |
MONDO:equivalentTo |
Unclassified autoinflammatory syndrome |
|
|
MONDO:0865766 |
periodic fever syndrome of childhood |
GARD:21458 |
MONDO:equivalentTo |
Periodic fever syndrome of childhood |
|
|
MONDO:0865767 |
pyogenic autoinflammatory syndrome of childhood |
GARD:21459 |
MONDO:equivalentTo |
Pyogenic autoinflammatory syndrome of childhood |
|
|
MONDO:0865768 |
localized epidermolysis bullosa simplex |
GARD:2146 |
MONDO:equivalentTo |
Localized epidermolysis bullosa simplex |
|
|
MONDO:0865769 |
granulomatous autoinflammatory syndrome of childhood |
GARD:21460 |
MONDO:equivalentTo |
Granulomatous autoinflammatory syndrome of childhood |
|
|
MONDO:0865770 |
unclassified autoinflammatory syndrome of childhood |
GARD:21461 |
MONDO:equivalentTo |
Unclassified autoinflammatory syndrome of childhood |
|
|
MONDO:0865771 |
unexplained periodic fever syndrome of childhood |
GARD:21462 |
MONDO:equivalentTo |
Unexplained periodic fever syndrome of childhood |
|
|
MONDO:0865772 |
46,xx disorder of gonadal development |
GARD:21463 |
MONDO:equivalentTo |
46,XX disorder of gonadal development |
|
|
MONDO:0865773 |
46,xx disorder of sex development induced by fetoplacental androgens excess |
GARD:21464 |
MONDO:equivalentTo |
46,XX disorder of sex development induced by fetoplacental androgens excess |
|
|
MONDO:0865774 |
46,xx disorder of sex development induced by endogenous maternal-derived androgen |
GARD:21465 |
MONDO:equivalentTo |
46,XX disorder of sex development induced by endogenous maternal-derived androgen |
|
|
MONDO:0865775 |
46,xx disorder of sex development induced by exogenous maternal-derived androgen |
GARD:21466 |
MONDO:equivalentTo |
46,XX disorder of sex development induced by exogenous maternal-derived androgen |
|
|
MONDO:0865776 |
syndrome with 46,xx disorder of sex development |
GARD:21467 |
MONDO:equivalentTo |
Syndrome with 46,XX disorder of sex development |
|
|
MONDO:0865777 |
46,xy disorder of gonadal development |
GARD:21468 |
MONDO:equivalentTo |
46,XY disorder of gonadal development |
|
|
MONDO:0865778 |
46,xy ovotesticular disorder of sex development |
GARD:21469 |
MONDO:equivalentTo |
46,XY ovotesticular disorder of sex development |
|
|
MONDO:0865779 |
autosomal dominant generalized epidermolysis bullosa simplex, intermediate form |
GARD:2147 |
MONDO:equivalentTo |
Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form |
|
|
MONDO:0865780 |
46,xy disorder of sex development of endocrine origin |
GARD:21470 |
MONDO:equivalentTo |
46,XY disorder of sex development of endocrine origin |
|
|
MONDO:0865781 |
46,xy disorder of sex development due to impaired androgen production |
GARD:21471 |
MONDO:equivalentTo |
46,XY disorder of sex development due to impaired androgen production |
|
|
MONDO:0865782 |
46,xy disorder of sex development due to a cholesterol synthesis defect |
GARD:21472 |
MONDO:equivalentTo |
46,XY disorder of sex development due to a cholesterol synthesis defect |
|
|
MONDO:0865783 |
classic congenital lipoid adrenal hyperplasia due to star deficency |
GARD:21473 |
MONDO:equivalentTo |
Classic congenital lipoid adrenal hyperplasia due to STAR deficency |
|
|
MONDO:0865784 |
non-classic congenital lipoid adrenal hyperplasia due to star deficency |
GARD:21474 |
MONDO:equivalentTo |
Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency |
|
|
MONDO:0865785 |
46,xy disorder of sex development induced by maternal exposure to endocrine disruptors |
GARD:21475 |
MONDO:equivalentTo |
46,XY disorder of sex development induced by maternal exposure to endocrine disruptors |
|
|
MONDO:0865786 |
sex chromosome disorder of sex development |
GARD:21476 |
MONDO:equivalentTo |
Sex chromosome disorder of sex development |
|
|
MONDO:0865787 |
disorder of sex development of gynecological interest |
GARD:21477 |
MONDO:equivalentTo |
Disorder of sex development of gynecological interest |
|
|
MONDO:0865788 |
46,xy disorder of sex development of gynecological interest |
GARD:21478 |
MONDO:equivalentTo |
46,XY disorder of sex development of gynecological interest |
|
|
MONDO:0865789 |
syndrome with disorder of sex development of gynecological interest |
GARD:21479 |
MONDO:equivalentTo |
Syndrome with disorder of sex development of gynecological interest |
|
|
MONDO:0865790 |
plec-related intermediate epidermolysis bullosa simplex without extracutaneous involvement |
GARD:2148 |
MONDO:equivalentTo |
PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement |
|
|
MONDO:0865791 |
genetic disorder of sex development of gynecological interest |
GARD:21480 |
MONDO:equivalentTo |
Genetic disorder of sex development of gynecological interest |
|
|
MONDO:0865792 |
genetic disorder of sex development |
GARD:21481 |
MONDO:equivalentTo |
Genetic disorder of sex development |
|
|
MONDO:0865793 |
genetic 46,xx disorder of sex development |
GARD:21482 |
MONDO:equivalentTo |
Genetic 46,XX disorder of sex development |
|
|
MONDO:0865794 |
genetic 46,xy disorder of sex development |
GARD:21483 |
MONDO:equivalentTo |
Genetic 46,XY disorder of sex development |
|
|
MONDO:0865795 |
genetic 46,xy disorder of sex development of endocrine origin |
GARD:21484 |
MONDO:equivalentTo |
Genetic 46,XY disorder of sex development of endocrine origin |
|
|
MONDO:0865796 |
cerebral sinovenous thrombosis |
GARD:21485 |
MONDO:equivalentTo |
Cerebral sinovenous thrombosis |
|
|
MONDO:0865797 |
severe early-onset obesity-insulin resistance syndrome due to sh2b1 deficiency |
GARD:21486 |
MONDO:equivalentTo |
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency |
|
|
MONDO:0865798 |
thrombocythemia with distal limb defects |
GARD:21487 |
MONDO:equivalentTo |
Thrombocythemia with distal limb defects |
|
|
MONDO:0865799 |
inverse klippel-trénaunay syndrome |
GARD:21488 |
MONDO:equivalentTo |
Inverse Klippel-Trénaunay syndrome |
|
|
MONDO:0865800 |
autosomal recessive frontotemporal pachygyria |
GARD:21489 |
MONDO:equivalentTo |
Autosomal recessive frontotemporal pachygyria |
|
|
MONDO:0865801 |
acute megakaryoblastic leukemia without down syndrome |
GARD:21490 |
MONDO:equivalentTo |
Acute megakaryoblastic leukemia without Down syndrome |
|
|
MONDO:0865802 |
spastic paraplegia-paget disease of bone syndrome |
GARD:21491 |
MONDO:equivalentTo |
Spastic paraplegia-Paget disease of bone syndrome |
|
|
MONDO:0865803 |
adult-onset distal myopathy due to vcp mutation |
GARD:21492 |
MONDO:equivalentTo |
Adult-onset distal myopathy due to VCP mutation |
|
|
MONDO:0865804 |
mosaic genome-wide paternal uniparental disomy |
GARD:21493 |
MONDO:equivalentTo |
Mosaic genome-wide paternal uniparental disomy |
|
|
MONDO:0865805 |
idiopathic giant cell myocarditis |
GARD:21494 |
MONDO:equivalentTo |
Idiopathic giant cell myocarditis |
|
|
MONDO:0865806 |
non-hypoproteinemic hypertrophic gastropathy |
GARD:21495 |
MONDO:equivalentTo |
Non-hypoproteinemic hypertrophic gastropathy |
|
|
MONDO:0865807 |
juvenile idiopathic inflammatory myopathy |
GARD:21496 |
MONDO:equivalentTo |
Juvenile idiopathic inflammatory myopathy |
|
|
MONDO:0865808 |
juvenile overlap myositis |
GARD:21497 |
MONDO:equivalentTo |
Juvenile overlap myositis |
|
|
MONDO:0865809 |
transient neonatal multiple acyl-coa dehydrogenase deficiency |
GARD:21498 |
MONDO:equivalentTo |
Transient neonatal multiple acyl-CoA dehydrogenase deficiency |
|
|
MONDO:0865810 |
intermittent hydrarthrosis |
GARD:21499 |
MONDO:equivalentTo |
Intermittent hydrarthrosis |
|
|
MONDO:0865811 |
familial caudal dysgenesis |
GARD:215 |
MONDO:equivalentTo |
Familial caudal dysgenesis |
|
|
MONDO:0865812 |
dystrophic epidermolysis bullosa |
GARD:2150 |
MONDO:equivalentTo |
Dystrophic epidermolysis bullosa |
|
|
MONDO:0865813 |
classic neuroendocrine tumor of appendix |
GARD:21500 |
MONDO:equivalentTo |
Classic neuroendocrine tumor of appendix |
|
|
MONDO:0865814 |
wild type attr amyloidosis |
GARD:21501 |
MONDO:equivalentTo |
Wild type ATTR amyloidosis |
|
|
MONDO:0865815 |
high altitude pulmonary edema |
GARD:21502 |
MONDO:equivalentTo |
High altitude pulmonary edema |
|
|
MONDO:0865816 |
lead poisoning |
GARD:21503 |
MONDO:equivalentTo |
Lead poisoning |
|
|
MONDO:0865817 |
hypotrichosis-deafness syndrome |
GARD:21504 |
MONDO:equivalentTo |
Hypotrichosis-deafness syndrome |
|
|
MONDO:0865818 |
hemoglobin lepore-beta-thalassemia syndrome |
GARD:21505 |
MONDO:equivalentTo |
Hemoglobin Lepore-beta-thalassemia syndrome |
|
|
MONDO:0865819 |
chronic actinic dermatitis |
GARD:21506 |
MONDO:equivalentTo |
Chronic actinic dermatitis |
|
|
MONDO:0865820 |
genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability |
GARD:21507 |
MONDO:equivalentTo |
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability |
|
|
MONDO:0865821 |
constitutional neutropenia with extra-hematopoietic manifestations |
GARD:21508 |
MONDO:equivalentTo |
Constitutional neutropenia with extra-hematopoietic manifestations |
|
|
MONDO:0865822 |
other immunodeficiency syndromes due to defects in innate immunity |
GARD:21509 |
MONDO:equivalentTo |
Other immunodeficiency syndromes due to defects in innate immunity |
|
|
MONDO:0865823 |
syndrome with combined immunodeficiency |
GARD:21510 |
MONDO:equivalentTo |
Syndrome with combined immunodeficiency |
|
|
MONDO:0865824 |
immunodeficiency due to absence of thymus |
GARD:21511 |
MONDO:equivalentTo |
Immunodeficiency due to absence of thymus |
|
|
MONDO:0865825 |
immunodeficiency with isotype or light chain deficiencies with normal number of b-cells |
GARD:21512 |
MONDO:equivalentTo |
Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells |
|
|
MONDO:0865826 |
immunodeficiency with severe reduction in serum igg and iga with normal/elevated igm and normal number of b-cells |
GARD:21513 |
MONDO:equivalentTo |
Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells |
|
|
MONDO:0865827 |
other immunodeficiency syndrome with predominantly antibody defects |
GARD:21514 |
MONDO:equivalentTo |
Other immunodeficiency syndrome with predominantly antibody defects |
|
|
MONDO:0865828 |
immunodeficiency syndrome with hypopigmentation |
GARD:21515 |
MONDO:equivalentTo |
Immunodeficiency syndrome with hypopigmentation |
|
|
MONDO:0865829 |
disorder of phospholipids, sphingolipids and fatty acids biosynthesis |
GARD:21516 |
MONDO:equivalentTo |
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis |
|
|
MONDO:0865830 |
disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement |
GARD:21517 |
MONDO:equivalentTo |
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement |
|
|
MONDO:0865831 |
disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement |
GARD:21518 |
MONDO:equivalentTo |
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement |
|
|
MONDO:0865832 |
disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement |
GARD:21519 |
MONDO:equivalentTo |
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement |
|
|
MONDO:0865833 |
junctional epidermolysis bullosa |
GARD:2152 |
MONDO:equivalentTo |
Junctional epidermolysis bullosa |
|
|
MONDO:0865834 |
mitochondrial dna maintenance syndrome |
GARD:21520 |
MONDO:equivalentTo |
Mitochondrial DNA maintenance syndrome |
|
|
MONDO:0865835 |
intellectual disability-obesity-brain malformations-facial dysmorphism syndrome |
GARD:21521 |
MONDO:equivalentTo |
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome |
|
|
MONDO:0865836 |
focal epilepsy-intellectual disability-cerebro-cerebellar malformation |
GARD:21522 |
MONDO:equivalentTo |
Focal epilepsy-intellectual disability-cerebro-cerebellar malformation |
|
|
MONDO:0865837 |
16q24.1 microdeletion syndrome |
GARD:21523 |
MONDO:equivalentTo |
16q24.1 microdeletion syndrome |
|
|
MONDO:0865838 |
phalangeal microgeodic syndrome |
GARD:21524 |
MONDO:equivalentTo |
Phalangeal microgeodic syndrome |
|
|
MONDO:0865839 |
autosomal recessive cerebellar ataxia with late-onset spasticity |
GARD:21525 |
MONDO:equivalentTo |
Autosomal recessive cerebellar ataxia with late-onset spasticity |
|
|
MONDO:0865840 |
neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion |
GARD:21526 |
MONDO:equivalentTo |
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion |
|
|
MONDO:0865841 |
attenuated chédiak-higashi syndrome |
GARD:21527 |
MONDO:equivalentTo |
Attenuated Chédiak-Higashi syndrome |
|
|
MONDO:0865842 |
disorder of melanin metabolism |
GARD:21528 |
MONDO:equivalentTo |
Disorder of melanin metabolism |
|
|
MONDO:0865843 |
minimal pigment oculocutaneous albinism type 1 |
GARD:21529 |
MONDO:equivalentTo |
Minimal pigment oculocutaneous albinism type 1 |
|
|
MONDO:0865844 |
severe generalized junctional epidermolysis bullosa |
GARD:2153 |
MONDO:equivalentTo |
Severe generalized junctional epidermolysis bullosa |
|
|
MONDO:0865845 |
congenital retinal arteriovenous communication |
GARD:21530 |
MONDO:equivalentTo |
Congenital retinal arteriovenous communication |
|
|
MONDO:0865846 |
idiopathic macular telangiectasia type 1 |
GARD:21531 |
MONDO:equivalentTo |
Idiopathic macular telangiectasia type 1 |
|
|
MONDO:0865847 |
idiopathic macular telangiectasia type 3 |
GARD:21532 |
MONDO:equivalentTo |
Idiopathic macular telangiectasia type 3 |
|
|
MONDO:0865848 |
vasoproliferative tumor of the retina |
GARD:21533 |
MONDO:equivalentTo |
Vasoproliferative tumor of the retina |
|
|
MONDO:0865849 |
3q26q27 microdeletion syndrome |
GARD:21534 |
MONDO:equivalentTo |
3q26q27 microdeletion syndrome |
|
|
MONDO:0865850 |
arterial thoracic outlet syndrome |
GARD:21535 |
MONDO:equivalentTo |
Arterial thoracic outlet syndrome |
|
|
MONDO:0865851 |
venous thoracic outlet syndrome |
GARD:21536 |
MONDO:equivalentTo |
Venous thoracic outlet syndrome |
|
|
MONDO:0865852 |
primary essential cutis verticis gyrata |
GARD:21537 |
MONDO:equivalentTo |
Primary essential cutis verticis gyrata |
|
|
MONDO:0865853 |
primary non-essential cutis verticis gyrata |
GARD:21538 |
MONDO:equivalentTo |
Primary non-essential cutis verticis gyrata |
|
|
MONDO:0865854 |
idiopathic nephrotic syndrome |
GARD:21539 |
MONDO:equivalentTo |
Idiopathic nephrotic syndrome |
|
|
MONDO:0865855 |
genetic non-syndromic renal or urinary tract malformation |
GARD:21540 |
MONDO:equivalentTo |
Genetic non-syndromic renal or urinary tract malformation |
|
|
MONDO:0865856 |
congenital anomaly of the great veins |
GARD:21541 |
MONDO:equivalentTo |
Congenital anomaly of the great veins |
|
|
MONDO:0865857 |
ring chromosome |
GARD:21542 |
MONDO:equivalentTo |
Ring chromosome |
|
|
MONDO:0865858 |
genetic progeroid syndrome |
GARD:21543 |
MONDO:equivalentTo |
Genetic progeroid syndrome |
|
|
MONDO:0865859 |
ciliopathy |
GARD:21544 |
MONDO:equivalentTo |
Ciliopathy |
|
|
MONDO:0865860 |
genetic syndromic pierre robin syndrome |
GARD:21545 |
MONDO:equivalentTo |
Genetic syndromic Pierre Robin syndrome |
|
|
MONDO:0865861 |
genetic intractable diarrhea of infancy |
GARD:21546 |
MONDO:equivalentTo |
Genetic intractable diarrhea of infancy |
|
|
MONDO:0865862 |
genetic intestinal disease due to fat malabsorption |
GARD:21547 |
MONDO:equivalentTo |
Genetic intestinal disease due to fat malabsorption |
|
|
MONDO:0865863 |
genetic intestinal polyposis |
GARD:21548 |
MONDO:equivalentTo |
Genetic intestinal polyposis |
|
|
MONDO:0865864 |
tumor of testis and paratestis |
GARD:21549 |
MONDO:equivalentTo |
Tumor of testis and paratestis |
|
|
MONDO:0865865 |
localized dystrophic epidermolysis bullosa, pretibial form |
GARD:2155 |
MONDO:equivalentTo |
Localized dystrophic epidermolysis bullosa, pretibial form |
|
|
MONDO:0865866 |
paratesticular adenocarcinoma |
GARD:21550 |
MONDO:equivalentTo |
Paratesticular adenocarcinoma |
|
|
MONDO:0865867 |
sex cord-stromal tumor of testis |
GARD:21551 |
MONDO:equivalentTo |
Sex cord-stromal tumor of testis |
|
|
MONDO:0865868 |
acute encephalopathy with biphasic seizures and late reduced diffusion |
GARD:21552 |
MONDO:equivalentTo |
Acute encephalopathy with biphasic seizures and late reduced diffusion |
|
|
MONDO:0865869 |
acute encephalopathy with inflammation-mediated status epilepticus |
GARD:21553 |
MONDO:equivalentTo |
Acute encephalopathy with inflammation-mediated status epilepticus |
|
|
MONDO:0865870 |
gonadal germ cell tumor |
GARD:21554 |
MONDO:equivalentTo |
Gonadal germ cell tumor |
|
|
MONDO:0865871 |
lmna-related cardiocutaneous progeria syndrome |
GARD:21555 |
MONDO:equivalentTo |
LMNA-related cardiocutaneous progeria syndrome |
|
|
MONDO:0865872 |
20q11.2 microduplication syndrome |
GARD:21556 |
MONDO:equivalentTo |
20q11.2 microduplication syndrome |
|
|
MONDO:0865873 |
2p13.2 microdeletion syndrome |
GARD:21557 |
MONDO:equivalentTo |
2p13.2 microdeletion syndrome |
|
|
MONDO:0865874 |
balint syndrome |
GARD:21558 |
MONDO:equivalentTo |
Balint syndrome |
|
|
MONDO:0865875 |
koolen-de vries syndrome due to a point mutation |
GARD:21559 |
MONDO:equivalentTo |
Koolen-De Vries syndrome due to a point mutation |
|
|
MONDO:0865876 |
autosomal recessive cerebral atrophy |
GARD:21560 |
MONDO:equivalentTo |
Autosomal recessive cerebral atrophy |
|
|
MONDO:0865877 |
immune hydrops fetalis |
GARD:21561 |
MONDO:equivalentTo |
Immune hydrops fetalis |
|
|
MONDO:0865878 |
systemic epstein-barr virus-positive t-cell lymphoproliferative disease of childhood |
GARD:21562 |
MONDO:equivalentTo |
Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood |
|
|
MONDO:0865879 |
hydroa vacciniforme-like lymphoma |
GARD:21563 |
MONDO:equivalentTo |
Hydroa vacciniforme-like lymphoma |
|
|
MONDO:0865880 |
alk-positive large b-cell lymphoma |
GARD:21564 |
MONDO:equivalentTo |
ALK-positive large B-cell lymphoma |
|
|
MONDO:0865881 |
severe early-childhood-onset retinal dystrophy |
GARD:21565 |
MONDO:equivalentTo |
Severe early-childhood-onset retinal dystrophy |
|
|
MONDO:0865882 |
bipartite talus |
GARD:21566 |
MONDO:equivalentTo |
Bipartite talus |
|
|
MONDO:0865883 |
primary bone dysplasia |
GARD:21567 |
MONDO:equivalentTo |
Primary bone dysplasia |
|
|
MONDO:0865884 |
primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments |
GARD:21568 |
MONDO:equivalentTo |
Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments |
|
|
MONDO:0865885 |
primary bone dysplasia with micromelia |
GARD:21569 |
MONDO:equivalentTo |
Primary bone dysplasia with micromelia |
|
|
MONDO:0865886 |
otopalatodigital syndrome spectrum disorder |
GARD:21570 |
MONDO:equivalentTo |
Otopalatodigital syndrome spectrum disorder |
|
|
MONDO:0865887 |
dysostosis |
GARD:21571 |
MONDO:equivalentTo |
Dysostosis |
|
|
MONDO:0865888 |
dysostosis with limb anomaly as a major feature |
GARD:21572 |
MONDO:equivalentTo |
Dysostosis with limb anomaly as a major feature |
|
|
MONDO:0865889 |
dysostosis with limb and face anomalies as a major feature |
GARD:21573 |
MONDO:equivalentTo |
Dysostosis with limb and face anomalies as a major feature |
|
|
MONDO:0865890 |
acrofacial dysostosis |
GARD:21574 |
MONDO:equivalentTo |
Acrofacial dysostosis |
|
|
MONDO:0865891 |
rare bone disease related to a common gene or pathway defect |
GARD:21575 |
MONDO:equivalentTo |
Rare bone disease related to a common gene or pathway defect |
|
|
MONDO:0865892 |
aggrecan-related bone disorder |
GARD:21576 |
MONDO:equivalentTo |
Aggrecan-related bone disorder |
|
|
MONDO:0865893 |
trpv4-related bone disorder |
GARD:21577 |
MONDO:equivalentTo |
TRPV4-related bone disorder |
|
|
MONDO:0865894 |
primary short bowel syndrome |
GARD:21578 |
MONDO:equivalentTo |
Primary short bowel syndrome |
|
|
MONDO:0865895 |
intellectual disability-hyperkinetic movement-truncal ataxia syndrome |
GARD:21579 |
MONDO:equivalentTo |
Intellectual disability-hyperkinetic movement-truncal ataxia syndrome |
|
|
MONDO:0865896 |
obesity due to sim1 deficiency |
GARD:21580 |
MONDO:equivalentTo |
Obesity due to SIM1 deficiency |
|
|
MONDO:0865897 |
2p21 microdeletion syndrome without cystinuria |
GARD:21581 |
MONDO:equivalentTo |
2p21 microdeletion syndrome without cystinuria |
|
|
MONDO:0865898 |
homozygous 2p21 microdeletion syndrome |
GARD:21582 |
MONDO:equivalentTo |
Homozygous 2p21 microdeletion syndrome |
|
|
MONDO:0865899 |
intellectual disability-seizures-macrocephaly-obesity syndrome |
GARD:21583 |
MONDO:equivalentTo |
Intellectual disability-seizures-macrocephaly-obesity syndrome |
|
|
MONDO:0865900 |
finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome |
GARD:21584 |
MONDO:equivalentTo |
Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome |
|
|
MONDO:0865901 |
intellectual disability-facial dysmorphism-hand anomalies syndrome |
GARD:21585 |
MONDO:equivalentTo |
Intellectual disability-facial dysmorphism-hand anomalies syndrome |
|
|
MONDO:0865902 |
spondyloepimetaphyseal dysplasia, isidor type |
GARD:21586 |
MONDO:equivalentTo |
Spondyloepimetaphyseal dysplasia, Isidor type |
|
|
MONDO:0865903 |
spondylometaphyseal dysplasia, czarny-ratajczak type |
GARD:21587 |
MONDO:equivalentTo |
Spondylometaphyseal dysplasia, Czarny-Ratajczak type |
|
|
MONDO:0865904 |
acute myeloid leukemia with t(8;16)(p11;p13) translocation |
GARD:21588 |
MONDO:equivalentTo |
Acute myeloid leukemia with t(8;16)(p11;p13) translocation |
|
|
MONDO:0865905 |
familial syringomyelia |
GARD:21589 |
MONDO:equivalentTo |
Familial syringomyelia |
|
|
MONDO:0865906 |
angora hair nevus |
GARD:21590 |
MONDO:equivalentTo |
Angora hair nevus |
|
|
MONDO:0865907 |
didymosis aplasticosebacea |
GARD:21591 |
MONDO:equivalentTo |
Didymosis aplasticosebacea |
|
|
MONDO:0865908 |
scalp syndrome |
GARD:21592 |
MONDO:equivalentTo |
SCALP syndrome |
|
|
MONDO:0865909 |
nevada syndrome |
GARD:21593 |
MONDO:equivalentTo |
NEVADA syndrome |
|
|
MONDO:0865910 |
fetal anticonvulsant syndrome |
GARD:21594 |
MONDO:equivalentTo |
Fetal anticonvulsant syndrome |
|
|
MONDO:0865911 |
fetal carbamazepine syndrome |
GARD:21595 |
MONDO:equivalentTo |
Fetal carbamazepine syndrome |
|
|
MONDO:0865912 |
rare disorder with dystonia and other neurologic or systemic manifestation |
GARD:21596 |
MONDO:equivalentTo |
Rare disorder with dystonia and other neurologic or systemic manifestation |
|
|
MONDO:0865913 |
ataxia-telangiectasia variant |
GARD:21597 |
MONDO:equivalentTo |
Ataxia-telangiectasia variant |
|
|
MONDO:0865914 |
medich giant platelet syndrome |
GARD:21598 |
MONDO:equivalentTo |
Medich giant platelet syndrome |
|
|
MONDO:0865915 |
xylt1-cdg |
GARD:21599 |
MONDO:equivalentTo |
XYLT1-CDG |
|
|
MONDO:0865916 |
camptodactyly-joint contractures-facial skeletal defects syndrome |
GARD:216 |
MONDO:equivalentTo |
Camptodactyly-joint contractures-facial skeletal defects syndrome |
|
|
MONDO:0865917 |
congenital muscular dystrophy with hyperlaxity |
GARD:21600 |
MONDO:equivalentTo |
Congenital muscular dystrophy with hyperlaxity |
|
|
MONDO:0865918 |
qualitative or quantitative defects of alpha-dystroglycan |
GARD:21601 |
MONDO:equivalentTo |
Qualitative or quantitative defects of alpha-dystroglycan |
|
|
MONDO:0865919 |
primary qualitative or quantitative defects of alpha-dystroglycan |
GARD:21602 |
MONDO:equivalentTo |
Primary qualitative or quantitative defects of alpha-dystroglycan |
|
|
MONDO:0865920 |
congenital disorder of glycosylation with neurological involvement |
GARD:21603 |
MONDO:equivalentTo |
Congenital disorder of glycosylation with neurological involvement |
|
|
MONDO:0865921 |
congenital disorder of glycosylation with epilepsy as a major feature |
GARD:21604 |
MONDO:equivalentTo |
Congenital disorder of glycosylation with epilepsy as a major feature |
|
|
MONDO:0865922 |
congenital disorder of glycosylation with hepatic involvement |
GARD:21605 |
MONDO:equivalentTo |
Congenital disorder of glycosylation with hepatic involvement |
|
|
MONDO:0865923 |
congenital disorder of glycosylation with dilated cardiomyopathy |
GARD:21606 |
MONDO:equivalentTo |
Congenital disorder of glycosylation with dilated cardiomyopathy |
|
|
MONDO:0865924 |
congenital disorder of glycosylation with cardiac malformation as a major feature |
GARD:21607 |
MONDO:equivalentTo |
Congenital disorder of glycosylation with cardiac malformation as a major feature |
|
|
MONDO:0865925 |
congenital disorder of glycosylation with intestinal involvement |
GARD:21608 |
MONDO:equivalentTo |
Congenital disorder of glycosylation with intestinal involvement |
|
|
MONDO:0865926 |
congenital disorder of glycosylation-related bone disorder |
GARD:21609 |
MONDO:equivalentTo |
Congenital disorder of glycosylation-related bone disorder |
|
|
MONDO:0865927 |
congenital disorder of glycosylation with skin involvement |
GARD:21610 |
MONDO:equivalentTo |
Congenital disorder of glycosylation with skin involvement |
|
|
MONDO:0865928 |
congenital disorder of glycosylation with nephropathy as a major feature |
GARD:21611 |
MONDO:equivalentTo |
Congenital disorder of glycosylation with nephropathy as a major feature |
|
|
MONDO:0865929 |
congenital disorder of glycosylation with deafness as a major feature |
GARD:21612 |
MONDO:equivalentTo |
Congenital disorder of glycosylation with deafness as a major feature |
|
|
MONDO:0865930 |
genetic periodic paralysis |
GARD:21613 |
MONDO:equivalentTo |
Genetic periodic paralysis |
|
|
MONDO:0865931 |
genetic neurovascular malformation |
GARD:21614 |
MONDO:equivalentTo |
Genetic neurovascular malformation |
|
|
MONDO:0865932 |
sphingolipidosis with epilepsy |
GARD:21615 |
MONDO:equivalentTo |
Sphingolipidosis with epilepsy |
|
|
MONDO:0865933 |
genetic syndromic esophageal malformation |
GARD:21616 |
MONDO:equivalentTo |
Genetic syndromic esophageal malformation |
|
|
MONDO:0865934 |
genetic hyperaldosteronism |
GARD:21617 |
MONDO:equivalentTo |
Genetic hyperaldosteronism |
|
|
MONDO:0865935 |
generalized isolated dystonia |
GARD:21618 |
MONDO:equivalentTo |
Generalized isolated dystonia |
|
|
MONDO:0865936 |
infantile-onset mesial temporal lobe epilepsy with severe cognitive regression |
GARD:21619 |
MONDO:equivalentTo |
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression |
|
|
MONDO:0865937 |
juvenile absence epilepsy |
GARD:2162 |
MONDO:equivalentTo |
Juvenile absence epilepsy |
|
|
MONDO:0865938 |
fatal post-viral neurodegenerative disorder |
GARD:21620 |
MONDO:equivalentTo |
Fatal post-viral neurodegenerative disorder |
|
|
MONDO:0865939 |
growth retardation-mild developmental delay-chronic hepatitis syndrome |
GARD:21621 |
MONDO:equivalentTo |
Growth retardation-mild developmental delay-chronic hepatitis syndrome |
|
|
MONDO:0865940 |
disorder of asparagine metabolism |
GARD:21622 |
MONDO:equivalentTo |
Disorder of asparagine metabolism |
|
|
MONDO:0865941 |
adult-onset myasthenia gravis |
GARD:21623 |
MONDO:equivalentTo |
Adult-onset myasthenia gravis |
|
|
MONDO:0865942 |
juvenile myasthenia gravis |
GARD:21624 |
MONDO:equivalentTo |
Juvenile myasthenia gravis |
|
|
MONDO:0865943 |
transient neonatal myasthenia gravis |
GARD:21625 |
MONDO:equivalentTo |
Transient neonatal myasthenia gravis |
|
|
MONDO:0865944 |
glomus tumor |
GARD:21626 |
MONDO:equivalentTo |
Glomus tumor |
|
|
MONDO:0865945 |
off-periods in parkinson disease not responding to oral treatment |
GARD:21627 |
MONDO:equivalentTo |
Off-periods in Parkinson disease not responding to oral treatment |
|
|
MONDO:0865946 |
persistent combined dystonia |
GARD:21628 |
MONDO:equivalentTo |
Persistent combined dystonia |
|
|
MONDO:0865947 |
mucinous adenocarcinoma of the appendix |
GARD:21629 |
MONDO:equivalentTo |
Mucinous adenocarcinoma of the appendix |
|
|
MONDO:0865948 |
rare genetic dystonia |
GARD:21630 |
MONDO:equivalentTo |
Rare genetic dystonia |
|
|
MONDO:0865949 |
deep dermatophytosis |
GARD:21631 |
MONDO:equivalentTo |
Deep dermatophytosis |
|
|
MONDO:0865950 |
prp systemic amyloidosis |
GARD:21632 |
MONDO:equivalentTo |
PrP systemic amyloidosis |
|
|
MONDO:0865951 |
3q27.3 microdeletion syndrome |
GARD:21633 |
MONDO:equivalentTo |
3q27.3 microdeletion syndrome |
|
|
MONDO:0865952 |
periodic paralysis with later-onset distal motor neuropathy |
GARD:21634 |
MONDO:equivalentTo |
Periodic paralysis with later-onset distal motor neuropathy |
|
|
MONDO:0865953 |
periodic paralysis with transient compartment-like syndrome |
GARD:21635 |
MONDO:equivalentTo |
Periodic paralysis with transient compartment-like syndrome |
|
|
MONDO:0865954 |
t+ b+ severe combined immunodeficiency |
GARD:21636 |
MONDO:equivalentTo |
T+ B+ severe combined immunodeficiency |
|
|
MONDO:0865955 |
ferro-cerebro-cutaneous syndrome |
GARD:21637 |
MONDO:equivalentTo |
Ferro-cerebro-cutaneous syndrome |
|
|
MONDO:0865956 |
adenocarcinoma of the penis |
GARD:21638 |
MONDO:equivalentTo |
Adenocarcinoma of the penis |
|
|
MONDO:0865957 |
squamous cell carcinoma of the penis |
GARD:21639 |
MONDO:equivalentTo |
Squamous cell carcinoma of the penis |
|
|
MONDO:0865958 |
refractory celiac disease |
GARD:21640 |
MONDO:equivalentTo |
Refractory celiac disease |
|
|
MONDO:0865959 |
prader-willi-like syndrome |
GARD:21641 |
MONDO:equivalentTo |
Prader-Willi-like syndrome |
|
|
MONDO:0865960 |
sim1-related prader-willi-like syndrome |
GARD:21642 |
MONDO:equivalentTo |
SIM1-related Prader-Willi-like syndrome |
|
|
MONDO:0865961 |
secondary neonatal autoimmune disease |
GARD:21643 |
MONDO:equivalentTo |
Secondary neonatal autoimmune disease |
|
|
MONDO:0865962 |
neonatal antiphospholipid syndrome |
GARD:21644 |
MONDO:equivalentTo |
Neonatal antiphospholipid syndrome |
|
|
MONDO:0865963 |
neonatal autoimmune hemolytic anemia |
GARD:21645 |
MONDO:equivalentTo |
Neonatal autoimmune hemolytic anemia |
|
|
MONDO:0865964 |
neonatal dermatomyositis |
GARD:21646 |
MONDO:equivalentTo |
Neonatal dermatomyositis |
|
|
MONDO:0865965 |
neonatal lupus erythematosus |
GARD:21647 |
MONDO:equivalentTo |
Neonatal lupus erythematosus |
|
|
MONDO:0865966 |
neonatal scleroderma |
GARD:21648 |
MONDO:equivalentTo |
Neonatal scleroderma |
|
|
MONDO:0865967 |
persistent idiopathic facial pain |
GARD:21649 |
MONDO:equivalentTo |
Persistent idiopathic facial pain |
|
|
MONDO:0865968 |
malignant non-epithelial tumor of ovary |
GARD:21650 |
MONDO:equivalentTo |
Malignant non-epithelial tumor of ovary |
|
|
MONDO:0865969 |
mucinous adenocarcinoma of ovary |
GARD:21651 |
MONDO:equivalentTo |
Mucinous adenocarcinoma of ovary |
|
|
MONDO:0865970 |
clear cell adenocarcinoma of the ovary |
GARD:21652 |
MONDO:equivalentTo |
Clear cell adenocarcinoma of the ovary |
|
|
MONDO:0865971 |
primary peritoneal serous/papillary carcinoma |
GARD:21653 |
MONDO:equivalentTo |
Primary peritoneal serous/papillary carcinoma |
|
|
MONDO:0865972 |
malignant teratoma of ovary |
GARD:21654 |
MONDO:equivalentTo |
Malignant teratoma of ovary |
|
|
MONDO:0865973 |
klhl9-related early-onset distal myopathy |
GARD:21655 |
MONDO:equivalentTo |
KLHL9-related early-onset distal myopathy |
|
|
MONDO:0865974 |
distal nebulin myopathy |
GARD:21656 |
MONDO:equivalentTo |
Distal nebulin myopathy |
|
|
MONDO:0865975 |
osteonecrosis |
GARD:21657 |
MONDO:equivalentTo |
Osteonecrosis |
|
|
MONDO:0865976 |
avascular necrosis |
GARD:21658 |
MONDO:equivalentTo |
Avascular necrosis |
|
|
MONDO:0865977 |
secondary avascular necrosis |
GARD:21659 |
MONDO:equivalentTo |
Secondary avascular necrosis |
|
|
MONDO:0865978 |
celiac disease-epilepsy-cerebral calcification syndrome |
GARD:2166 |
MONDO:equivalentTo |
Celiac disease-epilepsy-cerebral calcification syndrome |
|
|
MONDO:0865979 |
traumatic avascular necrosis |
GARD:21660 |
MONDO:equivalentTo |
Traumatic avascular necrosis |
|
|
MONDO:0865980 |
secondary non-traumatic avascular necrosis |
GARD:21661 |
MONDO:equivalentTo |
Secondary non-traumatic avascular necrosis |
|
|
MONDO:0865981 |
rare hereditary disease with avascular necrosis |
GARD:21662 |
MONDO:equivalentTo |
Rare hereditary disease with avascular necrosis |
|
|
MONDO:0865982 |
osteonecrosis of the jaw |
GARD:21663 |
MONDO:equivalentTo |
Osteonecrosis of the jaw |
|
|
MONDO:0865983 |
primary avascular necrosis |
GARD:21664 |
MONDO:equivalentTo |
Primary avascular necrosis |
|
|
MONDO:0865984 |
idiopathic avascular necrosis |
GARD:21665 |
MONDO:equivalentTo |
Idiopathic avascular necrosis |
|
|
MONDO:0865985 |
epiphysiolysis of the hip |
GARD:21666 |
MONDO:equivalentTo |
Epiphysiolysis of the hip |
|
|
MONDO:0865986 |
osteonecrosis of genetic origin |
GARD:21667 |
MONDO:equivalentTo |
Osteonecrosis of genetic origin |
|
|
MONDO:0865987 |
avascular necrosis of genetic origin |
GARD:21668 |
MONDO:equivalentTo |
Avascular necrosis of genetic origin |
|
|
MONDO:0865988 |
osteochondrosis of genetic origin |
GARD:21669 |
MONDO:equivalentTo |
Osteochondrosis of genetic origin |
|
|
MONDO:0865989 |
progressive myoclonic epilepsy type 3 |
GARD:2167 |
MONDO:equivalentTo |
Progressive myoclonic epilepsy type 3 |
|
|
MONDO:0865990 |
rare male infertility due to hypothalamic-pituitary-gonadal axis disorder |
GARD:21670 |
MONDO:equivalentTo |
Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder |
|
|
MONDO:0865991 |
rare male infertility due to adrenal disorder |
GARD:21671 |
MONDO:equivalentTo |
Rare male infertility due to adrenal disorder |
|
|
MONDO:0865992 |
rare male infertility due to testicular endocrine disorder |
GARD:21672 |
MONDO:equivalentTo |
Rare male infertility due to testicular endocrine disorder |
|
|
MONDO:0865993 |
male infertility due to gonadal dysgenesis or sperm disorder |
GARD:21673 |
MONDO:equivalentTo |
Male infertility due to gonadal dysgenesis or sperm disorder |
|
|
MONDO:0865994 |
male infertility due to sperm disorder |
GARD:21674 |
MONDO:equivalentTo |
Male infertility due to sperm disorder |
|
|
MONDO:0865995 |
male infertility with spermatogenesis disorder |
GARD:21675 |
MONDO:equivalentTo |
Male infertility with spermatogenesis disorder |
|
|
MONDO:0865996 |
male infertility due to sperm motility disorder |
GARD:21676 |
MONDO:equivalentTo |
Male infertility due to sperm motility disorder |
|
|
MONDO:0865997 |
rare disorder with obstructive azoospermia |
GARD:21677 |
MONDO:equivalentTo |
Rare disorder with obstructive azoospermia |
|
|
MONDO:0865998 |
rare female infertility due to hypothalamic-pituitary-gonadal axis disorder |
GARD:21678 |
MONDO:equivalentTo |
Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder |
|
|
MONDO:0865999 |
rare female infertility due to a congenital hypogonadotropic hypogonadism |
GARD:21679 |
MONDO:equivalentTo |
Rare female infertility due to a congenital hypogonadotropic hypogonadism |
|
|
MONDO:0866000 |
epilepsy-telangiectasia syndrome |
GARD:2168 |
MONDO:equivalentTo |
Epilepsy-telangiectasia syndrome |
|
|
MONDO:0866001 |
rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism |
GARD:21680 |
MONDO:equivalentTo |
Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism |
|
|
MONDO:0866002 |
rare female infertility due to an adrenal disorder |
GARD:21681 |
MONDO:equivalentTo |
Rare female infertility due to an adrenal disorder |
|
|
MONDO:0866003 |
rare female infertility due to an anomaly of ovarian function |
GARD:21682 |
MONDO:equivalentTo |
Rare female infertility due to an anomaly of ovarian function |
|
|
MONDO:0866004 |
rare female infertility due to gonadal dysgenesis |
GARD:21683 |
MONDO:equivalentTo |
Rare female infertility due to gonadal dysgenesis |
|
|
MONDO:0866005 |
rare female infertility due to an implantation defect |
GARD:21684 |
MONDO:equivalentTo |
Rare female infertility due to an implantation defect |
|
|
MONDO:0866006 |
rare genetic male infertility |
GARD:21685 |
MONDO:equivalentTo |
Rare genetic male infertility |
|
|
MONDO:0866007 |
rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin |
GARD:21686 |
MONDO:equivalentTo |
Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin |
|
|
MONDO:0866008 |
rare male infertility due to adrenal disorder of genetic origin |
GARD:21687 |
MONDO:equivalentTo |
Rare male infertility due to adrenal disorder of genetic origin |
|
|
MONDO:0866009 |
male infertility due to obstructive azoospermia of genetic origin |
GARD:21688 |
MONDO:equivalentTo |
Male infertility due to obstructive azoospermia of genetic origin |
|
|
MONDO:0866010 |
rare genetic disorder with obstructive azoospermia |
GARD:21689 |
MONDO:equivalentTo |
Rare genetic disorder with obstructive azoospermia |
|
|
MONDO:0866011 |
myoclonic-astatic epilepsy |
GARD:2169 |
MONDO:equivalentTo |
Myoclonic-astatic epilepsy |
|
|
MONDO:0866012 |
rare genetic female infertility |
GARD:21690 |
MONDO:equivalentTo |
Rare genetic female infertility |
|
|
MONDO:0866013 |
rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin |
GARD:21691 |
MONDO:equivalentTo |
Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin |
|
|
MONDO:0866014 |
rare female infertility due to adrenal disorder of genetic origin |
GARD:21692 |
MONDO:equivalentTo |
Rare female infertility due to adrenal disorder of genetic origin |
|
|
MONDO:0866015 |
rare female infertility due to an anomaly of ovarian function of genetic origin |
GARD:21693 |
MONDO:equivalentTo |
Rare female infertility due to an anomaly of ovarian function of genetic origin |
|
|
MONDO:0866016 |
female infertility due to an implantation defect of genetic origin |
GARD:21694 |
MONDO:equivalentTo |
Female infertility due to an implantation defect of genetic origin |
|
|
MONDO:0866017 |
autosomal recessive spastic paraplegia type 59 |
GARD:21695 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 59 |
|
|
MONDO:0866018 |
autosomal recessive spastic paraplegia type 60 |
GARD:21696 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 60 |
|
|
MONDO:0866019 |
autosomal recessive spastic paraplegia type 66 |
GARD:21697 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 66 |
|
|
MONDO:0866020 |
autosomal recessive spastic paraplegia type 67 |
GARD:21698 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 67 |
|
|
MONDO:0866021 |
autosomal recessive spastic paraplegia type 69 |
GARD:21699 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 69 |
|
|
MONDO:0866022 |
benign occipital epilepsy |
GARD:2170 |
MONDO:equivalentTo |
Benign occipital epilepsy |
|
|
MONDO:0866023 |
autosomal recessive spastic paraplegia type 70 |
GARD:21700 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 70 |
|
|
MONDO:0866024 |
autosomal recessive spastic paraplegia type 71 |
GARD:21701 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 71 |
|
|
MONDO:0866025 |
huntington disease-like syndrome due to c9orf72 expansions |
GARD:21702 |
MONDO:equivalentTo |
Huntington disease-like syndrome due to C9ORF72 expansions |
|
|
MONDO:0866026 |
axin2-related attenuated familial adenomatous polyposis |
GARD:21703 |
MONDO:equivalentTo |
AXIN2-related attenuated familial adenomatous polyposis |
|
|
MONDO:0866027 |
fibrolamellar hepatocellular carcinoma |
GARD:21704 |
MONDO:equivalentTo |
Fibrolamellar hepatocellular carcinoma |
|
|
MONDO:0866028 |
9q31.1q31.3 microdeletion syndrome |
GARD:21705 |
MONDO:equivalentTo |
9q31.1q31.3 microdeletion syndrome |
|
|
MONDO:0866029 |
14q24.1q24.3 microdeletion syndrome |
GARD:21706 |
MONDO:equivalentTo |
14q24.1q24.3 microdeletion syndrome |
|
|
MONDO:0866030 |
partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome |
GARD:21707 |
MONDO:equivalentTo |
Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome |
|
|
MONDO:0866031 |
cold-induced sweating syndrome-hyperthermia spectrum |
GARD:21708 |
MONDO:equivalentTo |
Cold-induced sweating syndrome-hyperthermia spectrum |
|
|
MONDO:0866032 |
lichen myxedematosus |
GARD:21709 |
MONDO:equivalentTo |
Lichen myxedematosus |
|
|
MONDO:0866033 |
acute myeloid leukemia with t(6;9)(p23;q34) |
GARD:21710 |
MONDO:equivalentTo |
Acute myeloid leukemia with t(6;9)(p23;q34) |
|
|
MONDO:0866034 |
acute myeloid leukemia with t(9;11)(p22;q23) |
GARD:21711 |
MONDO:equivalentTo |
Acute myeloid leukemia with t(9;11)(p22;q23) |
|
|
MONDO:0866035 |
megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) |
GARD:21712 |
MONDO:equivalentTo |
Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) |
|
|
MONDO:0866036 |
acute myeloid leukemia with npm1 somatic mutations |
GARD:21713 |
MONDO:equivalentTo |
Acute myeloid leukemia with NPM1 somatic mutations |
|
|
MONDO:0866037 |
primary eosinophilic gastrointestinal disease |
GARD:21714 |
MONDO:equivalentTo |
Primary eosinophilic gastrointestinal disease |
|
|
MONDO:0866038 |
eosinophilic colitis |
GARD:21715 |
MONDO:equivalentTo |
Eosinophilic colitis |
|
|
MONDO:0866039 |
hepatitis delta |
GARD:21716 |
MONDO:equivalentTo |
Hepatitis delta |
|
|
MONDO:0866040 |
fbln1-related developmental delay-central nervous system anomaly-syndactyly syndrome |
GARD:21717 |
MONDO:equivalentTo |
FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome |
|
|
MONDO:0866041 |
rare female infertility due to oocyte maturation defect |
GARD:21718 |
MONDO:equivalentTo |
Rare female infertility due to oocyte maturation defect |
|
|
MONDO:0866042 |
autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome |
GARD:21719 |
MONDO:equivalentTo |
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome |
|
|
MONDO:0866043 |
chondromyxoid fibroma |
GARD:21720 |
MONDO:equivalentTo |
Chondromyxoid fibroma |
|
|
MONDO:0866044 |
clear cell papillary renal cell carcinoma |
GARD:21721 |
MONDO:equivalentTo |
Clear cell papillary renal cell carcinoma |
|
|
MONDO:0866045 |
acquired cystic disease-associated renal cell carcinoma |
GARD:21722 |
MONDO:equivalentTo |
Acquired cystic disease-associated renal cell carcinoma |
|
|
MONDO:0866046 |
spinal muscular atrophy with respiratory distress type 2 |
GARD:21723 |
MONDO:equivalentTo |
Spinal muscular atrophy with respiratory distress type 2 |
|
|
MONDO:0866047 |
x-linked distal hereditary motor neuropathy |
GARD:21724 |
MONDO:equivalentTo |
X-linked distal hereditary motor neuropathy |
|
|
MONDO:0866048 |
dysostosis of genetic origin |
GARD:21725 |
MONDO:equivalentTo |
Dysostosis of genetic origin |
|
|
MONDO:0866049 |
dysostosis of genetic origin with limb anomaly as a major feature |
GARD:21726 |
MONDO:equivalentTo |
Dysostosis of genetic origin with limb anomaly as a major feature |
|
|
MONDO:0866050 |
genetic syndrome with limb reduction defects |
GARD:21727 |
MONDO:equivalentTo |
Genetic syndrome with limb reduction defects |
|
|
MONDO:0866051 |
genetic syndrome with limb malformations as a major feature |
GARD:21728 |
MONDO:equivalentTo |
Genetic syndrome with limb malformations as a major feature |
|
|
MONDO:0866052 |
polyarticular juvenile idiopathic arthritis |
GARD:21729 |
MONDO:equivalentTo |
Polyarticular juvenile idiopathic arthritis |
|
|
MONDO:0866053 |
familial partial epilepsy |
GARD:2173 |
MONDO:equivalentTo |
Familial partial epilepsy |
|
|
MONDO:0866054 |
rare genetic bone development disorder |
GARD:21730 |
MONDO:equivalentTo |
Rare genetic bone development disorder |
|
|
MONDO:0866055 |
williams-campbell syndrome |
GARD:21731 |
MONDO:equivalentTo |
Williams-Campbell syndrome |
|
|
MONDO:0866056 |
angelman syndrome due to a point mutation |
GARD:21732 |
MONDO:equivalentTo |
Angelman syndrome due to a point mutation |
|
|
MONDO:0866057 |
angelman syndrome due to imprinting defect in 15q11-q13 |
GARD:21733 |
MONDO:equivalentTo |
Angelman syndrome due to imprinting defect in 15q11-q13 |
|
|
MONDO:0866058 |
central retinal vein occlusion |
GARD:21734 |
MONDO:equivalentTo |
Central retinal vein occlusion |
|
|
MONDO:0866059 |
proton-pump inhibitor-responsive esophageal eosinophilia |
GARD:21735 |
MONDO:equivalentTo |
Proton-pump inhibitor-responsive esophageal eosinophilia |
|
|
MONDO:0866060 |
generalized eruptive keratoacanthoma |
GARD:21736 |
MONDO:equivalentTo |
Generalized eruptive keratoacanthoma |
|
|
MONDO:0866061 |
13q12.3 microdeletion syndrome |
GARD:21737 |
MONDO:equivalentTo |
13q12.3 microdeletion syndrome |
|
|
MONDO:0866062 |
prkar1b-related neurodegenerative dementia with intermediate filaments |
GARD:21738 |
MONDO:equivalentTo |
PRKAR1B-related neurodegenerative dementia with intermediate filaments |
|
|
MONDO:0866063 |
dystonia-aphonia syndrome |
GARD:21739 |
MONDO:equivalentTo |
Dystonia-aphonia syndrome |
|
|
MONDO:0866064 |
genetic facial cleft |
GARD:21740 |
MONDO:equivalentTo |
Genetic facial cleft |
|
|
MONDO:0866065 |
carcinoma of esophagus, salivary gland type |
GARD:21741 |
MONDO:equivalentTo |
Carcinoma of esophagus, salivary gland type |
|
|
MONDO:0866066 |
undifferentiated carcinoma of esophagus |
GARD:21742 |
MONDO:equivalentTo |
Undifferentiated carcinoma of esophagus |
|
|
MONDO:0866067 |
squamous cell carcinoma of the stomach |
GARD:21743 |
MONDO:equivalentTo |
Squamous cell carcinoma of the stomach |
|
|
MONDO:0866068 |
secondary pulmonary alveolar proteinosis |
GARD:21744 |
MONDO:equivalentTo |
Secondary pulmonary alveolar proteinosis |
|
|
MONDO:0866069 |
semicircular canal dehiscence syndrome |
GARD:21745 |
MONDO:equivalentTo |
Semicircular canal dehiscence syndrome |
|
|
MONDO:0866070 |
glycogen storage disease due to acid maltase deficiency, late-onset |
GARD:21746 |
MONDO:equivalentTo |
Glycogen storage disease due to acid maltase deficiency, late-onset |
|
|
MONDO:0866071 |
autosomal recessive severe congenital neutropenia due to cxcr2 deficiency |
GARD:21747 |
MONDO:equivalentTo |
Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency |
|
|
MONDO:0866072 |
rare genetic odontal or periodontal disorder |
GARD:21748 |
MONDO:equivalentTo |
Rare genetic odontal or periodontal disorder |
|
|
MONDO:0866073 |
autoimmune encephalopathy with parasomnia and obstructive sleep apnea |
GARD:21749 |
MONDO:equivalentTo |
Autoimmune encephalopathy with parasomnia and obstructive sleep apnea |
|
|
MONDO:0866074 |
cono-spondylar dysplasia |
GARD:21750 |
MONDO:equivalentTo |
Cono-spondylar dysplasia |
|
|
MONDO:0866075 |
microcephaly-short stature-intellectual disability-facial dysmorphism syndrome |
GARD:21751 |
MONDO:equivalentTo |
Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome |
|
|
MONDO:0866076 |
x-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome |
GARD:21752 |
MONDO:equivalentTo |
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome |
|
|
MONDO:0866077 |
arx-related encephalopathy-brain malformation spectrum |
GARD:21753 |
MONDO:equivalentTo |
ARX-related encephalopathy-brain malformation spectrum |
|
|
MONDO:0866078 |
rare autonomic nervous system disorder |
GARD:21754 |
MONDO:equivalentTo |
Rare autonomic nervous system disorder |
|
|
MONDO:0866079 |
double outlet right ventricle with subaortic or doubly committed ventricular septal defect |
GARD:21755 |
MONDO:equivalentTo |
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect |
|
|
MONDO:0866080 |
double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy |
GARD:21756 |
MONDO:equivalentTo |
Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy |
|
|
MONDO:0866081 |
rare carcinoma of stomach |
GARD:21757 |
MONDO:equivalentTo |
Rare carcinoma of stomach |
|
|
MONDO:0866082 |
hereditary gastric cancer |
GARD:21758 |
MONDO:equivalentTo |
Hereditary gastric cancer |
|
|
MONDO:0866083 |
undifferentiated carcinoma of stomach |
GARD:21759 |
MONDO:equivalentTo |
Undifferentiated carcinoma of stomach |
|
|
MONDO:0866084 |
rare tumor of small intestine |
GARD:21760 |
MONDO:equivalentTo |
Rare tumor of small intestine |
|
|
MONDO:0866085 |
mesenchymal tumor of small intestine |
GARD:21761 |
MONDO:equivalentTo |
Mesenchymal tumor of small intestine |
|
|
MONDO:0866086 |
microcephaly-complex motor and sensory axonal neuropathy syndrome |
GARD:21762 |
MONDO:equivalentTo |
Microcephaly-complex motor and sensory axonal neuropathy syndrome |
|
|
MONDO:0866087 |
rare carcinoma of small intestine |
GARD:21763 |
MONDO:equivalentTo |
Rare carcinoma of small intestine |
|
|
MONDO:0866088 |
squamous cell carcinoma of the small intestine |
GARD:21764 |
MONDO:equivalentTo |
Squamous cell carcinoma of the small intestine |
|
|
MONDO:0866089 |
neuroendocrine tumor of the small intestine |
GARD:21765 |
MONDO:equivalentTo |
Neuroendocrine tumor of the small intestine |
|
|
MONDO:0866090 |
epithelial tumor of the appendix |
GARD:21766 |
MONDO:equivalentTo |
Epithelial tumor of the appendix |
|
|
MONDO:0866091 |
rare epithelial tumor of colon |
GARD:21767 |
MONDO:equivalentTo |
Rare epithelial tumor of colon |
|
|
MONDO:0866092 |
squamous cell carcinoma of the colon |
GARD:21768 |
MONDO:equivalentTo |
Squamous cell carcinoma of the colon |
|
|
MONDO:0866093 |
rare epithelial tumor of rectum |
GARD:21769 |
MONDO:equivalentTo |
Rare epithelial tumor of rectum |
|
|
MONDO:0866094 |
squamous cell carcinoma of the rectum |
GARD:21770 |
MONDO:equivalentTo |
Squamous cell carcinoma of the rectum |
|
|
MONDO:0866095 |
epithelial tumor of anal canal |
GARD:21771 |
MONDO:equivalentTo |
Epithelial tumor of anal canal |
|
|
MONDO:0866096 |
carcinoma of the anal canal |
GARD:21772 |
MONDO:equivalentTo |
Carcinoma of the anal canal |
|
|
MONDO:0866097 |
adenocarcinoma of the anal canal |
GARD:21773 |
MONDO:equivalentTo |
Adenocarcinoma of the anal canal |
|
|
MONDO:0866098 |
squamous cell carcinoma of the anal canal |
GARD:21774 |
MONDO:equivalentTo |
Squamous cell carcinoma of the anal canal |
|
|
MONDO:0866099 |
rare epithelial tumor of pancreas |
GARD:21775 |
MONDO:equivalentTo |
Rare epithelial tumor of pancreas |
|
|
MONDO:0866100 |
squamous cell carcinoma of pancreas |
GARD:21776 |
MONDO:equivalentTo |
Squamous cell carcinoma of pancreas |
|
|
MONDO:0866101 |
acinar cell carcinoma of pancreas |
GARD:21777 |
MONDO:equivalentTo |
Acinar cell carcinoma of pancreas |
|
|
MONDO:0866102 |
mucinous cystadenocarcinoma of the pancreas |
GARD:21778 |
MONDO:equivalentTo |
Mucinous cystadenocarcinoma of the pancreas |
|
|
MONDO:0866103 |
intraductal papillary mucinous carcinoma of pancreas |
GARD:21779 |
MONDO:equivalentTo |
Intraductal papillary mucinous carcinoma of pancreas |
|
|
MONDO:0866104 |
epiphyseal dysplasia-hearing loss-dysmorphism syndrome |
GARD:2178 |
MONDO:equivalentTo |
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome |
|
|
MONDO:0866105 |
solid pseudopapillary carcinoma of pancreas |
GARD:21780 |
MONDO:equivalentTo |
Solid pseudopapillary carcinoma of pancreas |
|
|
MONDO:0866106 |
serous cystadenocarcinoma of pancreas |
GARD:21781 |
MONDO:equivalentTo |
Serous cystadenocarcinoma of pancreas |
|
|
MONDO:0866107 |
osteoclastic giant cell tumor of pancreas |
GARD:21782 |
MONDO:equivalentTo |
Osteoclastic giant cell tumor of pancreas |
|
|
MONDO:0866108 |
congenital myopathy with myasthenic-like onset |
GARD:21783 |
MONDO:equivalentTo |
Congenital myopathy with myasthenic-like onset |
|
|
MONDO:0866109 |
qualitative or quantitative defects of torsin-1a-interacting protein 1 |
GARD:21784 |
MONDO:equivalentTo |
Qualitative or quantitative defects of Torsin-1A-interacting protein 1 |
|
|
MONDO:0866110 |
rare malignant epithelial tumor of liver and intrahepatic biliary tract |
GARD:21785 |
MONDO:equivalentTo |
Rare malignant epithelial tumor of liver and intrahepatic biliary tract |
|
|
MONDO:0866111 |
carcinoma of liver and intrahepatic biliary tract |
GARD:21786 |
MONDO:equivalentTo |
Carcinoma of liver and intrahepatic biliary tract |
|
|
MONDO:0866112 |
adenocarcinoma of the liver and intrahepatic biliary tract |
GARD:21787 |
MONDO:equivalentTo |
Adenocarcinoma of the liver and intrahepatic biliary tract |
|
|
MONDO:0866113 |
undifferentiated carcinoma of liver and intrahepatic biliary tract |
GARD:21788 |
MONDO:equivalentTo |
Undifferentiated carcinoma of liver and intrahepatic biliary tract |
|
|
MONDO:0866114 |
squamous cell carcinoma of liver and intrahepatic biliary tract |
GARD:21789 |
MONDO:equivalentTo |
Squamous cell carcinoma of liver and intrahepatic biliary tract |
|
|
MONDO:0866115 |
biliary cystadenocarcinoma |
GARD:21790 |
MONDO:equivalentTo |
Biliary cystadenocarcinoma |
|
|
MONDO:0866116 |
adenocarcinoma of the gallbladder and extrahepatic biliary tract |
GARD:21791 |
MONDO:equivalentTo |
Adenocarcinoma of the gallbladder and extrahepatic biliary tract |
|
|
MONDO:0866117 |
squamous cell carcinoma of gallbladder and extrahepatic biliary tract |
GARD:21792 |
MONDO:equivalentTo |
Squamous cell carcinoma of gallbladder and extrahepatic biliary tract |
|
|
MONDO:0866118 |
inherited digestive cancer-predisposing syndrome |
GARD:21793 |
MONDO:equivalentTo |
Inherited digestive cancer-predisposing syndrome |
|
|
MONDO:0866119 |
rare epithelial tumor of small intestine |
GARD:21794 |
MONDO:equivalentTo |
Rare epithelial tumor of small intestine |
|
|
MONDO:0866120 |
primary immunodeficiency with predisposition to severe viral infection |
GARD:21795 |
MONDO:equivalentTo |
Primary immunodeficiency with predisposition to severe viral infection |
|
|
MONDO:0866121 |
late-onset scapuloperoneal muscular dystrophy with hyaline bodies |
GARD:21796 |
MONDO:equivalentTo |
Late-onset scapuloperoneal muscular dystrophy with hyaline bodies |
|
|
MONDO:0866122 |
spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder |
GARD:21797 |
MONDO:equivalentTo |
Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder |
|
|
MONDO:0866123 |
patent urachus |
GARD:21798 |
MONDO:equivalentTo |
Patent urachus |
|
|
MONDO:0866124 |
urachal sinus |
GARD:21799 |
MONDO:equivalentTo |
Urachal sinus |
|
|
MONDO:0866125 |
rotor syndrome |
GARD:218 |
MONDO:equivalentTo |
Rotor syndrome |
|
|
MONDO:0866126 |
multiple epiphyseal dysplasia type 1 |
GARD:2180 |
MONDO:equivalentTo |
Multiple epiphyseal dysplasia type 1 |
|
|
MONDO:0866127 |
urachal diverticulum |
GARD:21800 |
MONDO:equivalentTo |
Urachal diverticulum |
|
|
MONDO:0866128 |
pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis |
GARD:21801 |
MONDO:equivalentTo |
Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis |
|
|
MONDO:0866129 |
rare genetic autonomic nervous system disorder |
GARD:21802 |
MONDO:equivalentTo |
Rare genetic autonomic nervous system disorder |
|
|
MONDO:0866130 |
syndrome with woolly hair |
GARD:21803 |
MONDO:equivalentTo |
Syndrome with woolly hair |
|
|
MONDO:0866131 |
fetal lower urinary tract obstruction |
GARD:21804 |
MONDO:equivalentTo |
Fetal lower urinary tract obstruction |
|
|
MONDO:0866132 |
anterior urethral valve |
GARD:21805 |
MONDO:equivalentTo |
Anterior urethral valve |
|
|
MONDO:0866133 |
genetic precocious puberty |
GARD:21806 |
MONDO:equivalentTo |
Genetic precocious puberty |
|
|
MONDO:0866134 |
precocious puberty in female |
GARD:21807 |
MONDO:equivalentTo |
Precocious puberty in female |
|
|
MONDO:0866135 |
genetic precocious puberty in female |
GARD:21808 |
MONDO:equivalentTo |
Genetic precocious puberty in female |
|
|
MONDO:0866136 |
genetic otorhinolaryngological malformation |
GARD:21809 |
MONDO:equivalentTo |
Genetic otorhinolaryngological malformation |
|
|
MONDO:0866137 |
genetic nose and cavum anomaly |
GARD:21810 |
MONDO:equivalentTo |
Genetic nose and cavum anomaly |
|
|
MONDO:0866138 |
genetic larynx anomaly |
GARD:21811 |
MONDO:equivalentTo |
Genetic larynx anomaly |
|
|
MONDO:0866139 |
genetic tracheal anomaly |
GARD:21812 |
MONDO:equivalentTo |
Genetic tracheal anomaly |
|
|
MONDO:0866140 |
3p25.3 microdeletion syndrome |
GARD:21813 |
MONDO:equivalentTo |
3p25.3 microdeletion syndrome |
|
|
MONDO:0866141 |
congenital urachal anomaly |
GARD:21814 |
MONDO:equivalentTo |
Congenital urachal anomaly |
|
|
MONDO:0866142 |
autosomal dominant charcot-marie-tooth disease type 2 due to tfg mutation |
GARD:21815 |
MONDO:equivalentTo |
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation |
|
|
MONDO:0866143 |
contractures-developmental delay-pierre robin syndrome |
GARD:21816 |
MONDO:equivalentTo |
Contractures-developmental delay-Pierre Robin syndrome |
|
|
MONDO:0866144 |
severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome |
GARD:21817 |
MONDO:equivalentTo |
Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome |
|
|
MONDO:0866145 |
intrauterine growth restriction-short stature-early adult-onset diabetes syndrome |
GARD:21818 |
MONDO:equivalentTo |
Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome |
|
|
MONDO:0866146 |
non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy |
GARD:21819 |
MONDO:equivalentTo |
Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy |
|
|
MONDO:0866147 |
pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa |
GARD:21820 |
MONDO:equivalentTo |
Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa |
|
|
MONDO:0866148 |
disorder of keton body transport |
GARD:21821 |
MONDO:equivalentTo |
Disorder of keton body transport |
|
|
MONDO:0866149 |
human infection by orthopoxvirus |
GARD:21822 |
MONDO:equivalentTo |
Human infection by orthopoxvirus |
|
|
MONDO:0866150 |
placental insufficiency |
GARD:21823 |
MONDO:equivalentTo |
Placental insufficiency |
|
|
MONDO:0866151 |
pediatric arterial ischemic stroke |
GARD:21824 |
MONDO:equivalentTo |
Pediatric arterial ischemic stroke |
|
|
MONDO:0866152 |
zinc-responsive necrolytic acral erythema |
GARD:21825 |
MONDO:equivalentTo |
Zinc-responsive necrolytic acral erythema |
|
|
MONDO:0866153 |
non-recovering obstetric brachial plexus lesion |
GARD:21826 |
MONDO:equivalentTo |
Non-recovering obstetric brachial plexus lesion |
|
|
MONDO:0866154 |
alect2 amyloidosis |
GARD:21827 |
MONDO:equivalentTo |
ALECT2 amyloidosis |
|
|
MONDO:0866155 |
aapoaiv amyloidosis |
GARD:21828 |
MONDO:equivalentTo |
AApoAIV amyloidosis |
|
|
MONDO:0866156 |
abeta2m amyloidosis |
GARD:21829 |
MONDO:equivalentTo |
ABeta2M amyloidosis |
|
|
MONDO:0866157 |
primary polyarteritis nodosa |
GARD:21830 |
MONDO:equivalentTo |
Primary polyarteritis nodosa |
|
|
MONDO:0866158 |
secondary polyarteritis nodosa |
GARD:21831 |
MONDO:equivalentTo |
Secondary polyarteritis nodosa |
|
|
MONDO:0866159 |
single-organ polyarteritis nodosa |
GARD:21832 |
MONDO:equivalentTo |
Single-organ polyarteritis nodosa |
|
|
MONDO:0866160 |
systemic polyarteritis nodosa |
GARD:21833 |
MONDO:equivalentTo |
Systemic polyarteritis nodosa |
|
|
MONDO:0866161 |
autosomal recessive severe congenital neutropenia |
GARD:21834 |
MONDO:equivalentTo |
Autosomal recessive severe congenital neutropenia |
|
|
MONDO:0866162 |
plastic bronchitis |
GARD:21835 |
MONDO:equivalentTo |
Plastic bronchitis |
|
|
MONDO:0866163 |
congenital oculomotor nerve palsy |
GARD:21836 |
MONDO:equivalentTo |
Congenital oculomotor nerve palsy |
|
|
MONDO:0866164 |
congenital abducens nerve palsy |
GARD:21837 |
MONDO:equivalentTo |
Congenital abducens nerve palsy |
|
|
MONDO:0866165 |
autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome |
GARD:21838 |
MONDO:equivalentTo |
Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome |
|
|
MONDO:0866166 |
necrotizing soft tissue infection |
GARD:21839 |
MONDO:equivalentTo |
Necrotizing soft tissue infection |
|
|
MONDO:0866167 |
familial colorectal cancer type x |
GARD:21840 |
MONDO:equivalentTo |
Familial colorectal cancer Type X |
|
|
MONDO:0866168 |
disorders of pentose/polyol metabolism |
GARD:21841 |
MONDO:equivalentTo |
Disorders of pentose/polyol metabolism |
|
|
MONDO:0866169 |
extensive peripapillary myelinated nerve fibers |
GARD:21842 |
MONDO:equivalentTo |
Extensive peripapillary myelinated nerve fibers |
|
|
MONDO:0866170 |
combined hamartoma of the retina and retinal pigment epithelium |
GARD:21843 |
MONDO:equivalentTo |
Combined hamartoma of the retina and retinal pigment epithelium |
|
|
MONDO:0866171 |
isolated agenesis of gallbladder |
GARD:21844 |
MONDO:equivalentTo |
Isolated agenesis of gallbladder |
|
|
MONDO:0866172 |
syndromic hereditary optic neuropathy |
GARD:21845 |
MONDO:equivalentTo |
Syndromic hereditary optic neuropathy |
|
|
MONDO:0866173 |
early-onset posterior subcapsular cataract |
GARD:21846 |
MONDO:equivalentTo |
Early-onset posterior subcapsular cataract |
|
|
MONDO:0866174 |
ah amyloidosis |
GARD:21847 |
MONDO:equivalentTo |
AH amyloidosis |
|
|
MONDO:0866175 |
46,xy disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect |
GARD:21848 |
MONDO:equivalentTo |
46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect |
|
|
MONDO:0866176 |
hyperinsulinemic hypoglycaemia |
GARD:21849 |
MONDO:equivalentTo |
Hyperinsulinemic hypoglycaemia |
|
|
MONDO:0866177 |
hypothalamic adipsic hypernatraemia syndrome |
GARD:21850 |
MONDO:equivalentTo |
Hypothalamic adipsic hypernatraemia syndrome |
|
|
MONDO:0866178 |
lymphoplasmacytic lymphoma without igm production |
GARD:21851 |
MONDO:equivalentTo |
Lymphoplasmacytic lymphoma without IgM production |
|
|
MONDO:0866179 |
nut midline carcinoma |
GARD:21852 |
MONDO:equivalentTo |
NUT midline carcinoma |
|
|
MONDO:0866180 |
postpartum psychosis |
GARD:21853 |
MONDO:equivalentTo |
Postpartum psychosis |
|
|
MONDO:0866181 |
spontaneous intracranial hypotension |
GARD:21854 |
MONDO:equivalentTo |
Spontaneous intracranial hypotension |
|
|
MONDO:0866182 |
paratyphoid fever |
GARD:21855 |
MONDO:equivalentTo |
Paratyphoid fever |
|
|
MONDO:0866183 |
acth-independent cushing syndrome due to rare cortisol-producing adrenal tumor |
GARD:21856 |
MONDO:equivalentTo |
ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor |
|
|
MONDO:0866184 |
hiv-associated cancer |
GARD:21857 |
MONDO:equivalentTo |
HIV-associated cancer |
|
|
MONDO:0866185 |
11q22.2q22.3 microdeletion syndrome |
GARD:21858 |
MONDO:equivalentTo |
11q22.2q22.3 microdeletion syndrome |
|
|
MONDO:0866186 |
20q11.2 microdeletion syndrome |
GARD:21859 |
MONDO:equivalentTo |
20q11.2 microdeletion syndrome |
|
|
MONDO:0866187 |
idiopathic phalangeal acro-osteolysis |
GARD:21860 |
MONDO:equivalentTo |
Idiopathic phalangeal acro-osteolysis |
|
|
MONDO:0866188 |
pseudohypoaldosteronism |
GARD:21861 |
MONDO:equivalentTo |
Pseudohypoaldosteronism |
|
|
MONDO:0866189 |
caudal regression-sirenomelia spectrum |
GARD:21862 |
MONDO:equivalentTo |
Caudal regression-sirenomelia spectrum |
|
|
MONDO:0866190 |
secondary vasculitis |
GARD:21863 |
MONDO:equivalentTo |
Secondary vasculitis |
|
|
MONDO:0866191 |
nik deficiency |
GARD:21864 |
MONDO:equivalentTo |
NIK deficiency |
|
|
MONDO:0866192 |
susceptibility to localized juvenile periodontitis |
GARD:21865 |
MONDO:equivalentTo |
Susceptibility to localized juvenile periodontitis |
|
|
MONDO:0866193 |
autosomal dominant spastic paraplegia type 9b |
GARD:21866 |
MONDO:equivalentTo |
Autosomal dominant spastic paraplegia type 9B |
|
|
MONDO:0866194 |
igg4-related sclerosing cholangitis |
GARD:21867 |
MONDO:equivalentTo |
IgG4-related sclerosing cholangitis |
|
|
MONDO:0866195 |
sclerosing cholangitis |
GARD:21868 |
MONDO:equivalentTo |
Sclerosing cholangitis |
|
|
MONDO:0866196 |
secondary sclerosing cholangitis |
GARD:21869 |
MONDO:equivalentTo |
Secondary sclerosing cholangitis |
|
|
MONDO:0866197 |
keratocystic odontogenic tumor |
GARD:21870 |
MONDO:equivalentTo |
Keratocystic odontogenic tumor |
|
|
MONDO:0866198 |
cerebral visual impairment |
GARD:21871 |
MONDO:equivalentTo |
Cerebral visual impairment |
|
|
MONDO:0866199 |
lipoyl transferase 2 deficiency |
GARD:21872 |
MONDO:equivalentTo |
Lipoyl transferase 2 deficiency |
|
|
MONDO:0866200 |
biological anomaly without phenotypic characterization |
GARD:21873 |
MONDO:equivalentTo |
Biological anomaly without phenotypic characterization |
|
|
MONDO:0866201 |
idiopathic dropped head syndrome |
GARD:21874 |
MONDO:equivalentTo |
Idiopathic dropped head syndrome |
|
|
MONDO:0866202 |
19p13.3 microduplication syndrome |
GARD:21875 |
MONDO:equivalentTo |
19p13.3 microduplication syndrome |
|
|
MONDO:0866203 |
partial duplication of the short arm of chromosome 19 |
GARD:21876 |
MONDO:equivalentTo |
Partial duplication of the short arm of chromosome 19 |
|
|
MONDO:0866204 |
ectopia cordis |
GARD:21877 |
MONDO:equivalentTo |
Ectopia cordis |
|
|
MONDO:0866205 |
genetic primary orthostatic hypotension |
GARD:21878 |
MONDO:equivalentTo |
Genetic primary orthostatic hypotension |
|
|
MONDO:0866206 |
pleural empyema |
GARD:21879 |
MONDO:equivalentTo |
Pleural empyema |
|
|
MONDO:0866207 |
erosive pustular dermatosis of the scalp |
GARD:2188 |
MONDO:equivalentTo |
Erosive pustular dermatosis of the scalp |
|
|
MONDO:0866208 |
scedosporiosis |
GARD:21880 |
MONDO:equivalentTo |
Scedosporiosis |
|
|
MONDO:0866209 |
snakebite envenomation |
GARD:21881 |
MONDO:equivalentTo |
Snakebite envenomation |
|
|
MONDO:0866210 |
igg4-related kidney disease |
GARD:21882 |
MONDO:equivalentTo |
IgG4-related kidney disease |
|
|
MONDO:0866211 |
igg4-related aortitis |
GARD:21883 |
MONDO:equivalentTo |
IgG4-related aortitis |
|
|
MONDO:0866212 |
igg4-related submandibular gland disease |
GARD:21884 |
MONDO:equivalentTo |
IgG4-related submandibular gland disease |
|
|
MONDO:0866213 |
igg4-related ophthalmic disease |
GARD:21885 |
MONDO:equivalentTo |
IgG4-related ophthalmic disease |
|
|
MONDO:0866214 |
eosinophilic angiocentric fibrosis |
GARD:21886 |
MONDO:equivalentTo |
Eosinophilic angiocentric fibrosis |
|
|
MONDO:0866215 |
polyclonal hyperviscosity syndrome |
GARD:21887 |
MONDO:equivalentTo |
Polyclonal hyperviscosity syndrome |
|
|
MONDO:0866216 |
primary cutaneous plasmacytosis |
GARD:21888 |
MONDO:equivalentTo |
Primary cutaneous plasmacytosis |
|
|
MONDO:0866217 |
cutaneous pseudolymphoma |
GARD:21889 |
MONDO:equivalentTo |
Cutaneous pseudolymphoma |
|
|
MONDO:0866218 |
congenital insensitivity to pain with severe intellectual disability |
GARD:21890 |
MONDO:equivalentTo |
Congenital insensitivity to pain with severe intellectual disability |
|
|
MONDO:0866219 |
progressive muscular atrophy |
GARD:21891 |
MONDO:equivalentTo |
Progressive muscular atrophy |
|
|
MONDO:0866220 |
anti-p200 pemphigoid |
GARD:21892 |
MONDO:equivalentTo |
Anti-p200 pemphigoid |
|
|
MONDO:0866221 |
endometrioid carcinoma of ovary |
GARD:21893 |
MONDO:equivalentTo |
Endometrioid carcinoma of ovary |
|
|
MONDO:0866222 |
variably protease-sensitive prionopathy |
GARD:21894 |
MONDO:equivalentTo |
Variably protease-sensitive prionopathy |
|
|
MONDO:0866223 |
isolated tracheoesophageal fistula |
GARD:21895 |
MONDO:equivalentTo |
Isolated tracheoesophageal fistula |
|
|
MONDO:0866224 |
acute radiation syndrome |
GARD:21896 |
MONDO:equivalentTo |
Acute radiation syndrome |
|
|
MONDO:0866225 |
avian influenza |
GARD:21897 |
MONDO:equivalentTo |
Avian influenza |
|
|
MONDO:0866226 |
1p35.2 microdeletion syndrome |
GARD:21898 |
MONDO:equivalentTo |
1p35.2 microdeletion syndrome |
|
|
MONDO:0866227 |
hereditary neuroendocrine tumor of small intestine |
GARD:21899 |
MONDO:equivalentTo |
Hereditary neuroendocrine tumor of small intestine |
|
|
MONDO:0866228 |
pseudohypoparathyroidism without albright hereditary osteodystrophy |
GARD:21900 |
MONDO:equivalentTo |
Pseudohypoparathyroidism without Albright hereditary osteodystrophy |
|
|
MONDO:0866229 |
congenital nemaline myopathy |
GARD:21901 |
MONDO:equivalentTo |
Congenital nemaline myopathy |
|
|
MONDO:0866230 |
tafro syndrome |
GARD:21902 |
MONDO:equivalentTo |
TAFRO syndrome |
|
|
MONDO:0866231 |
isolated splenogonadal fusion |
GARD:21903 |
MONDO:equivalentTo |
Isolated splenogonadal fusion |
|
|
MONDO:0866232 |
infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome |
GARD:21904 |
MONDO:equivalentTo |
Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome |
|
|
MONDO:0866233 |
clear cell sarcoma of kidney |
GARD:21905 |
MONDO:equivalentTo |
Clear cell sarcoma of kidney |
|
|
MONDO:0866234 |
intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome |
GARD:21906 |
MONDO:equivalentTo |
Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome |
|
|
MONDO:0866235 |
composite hemangioendothelioma |
GARD:21907 |
MONDO:equivalentTo |
Composite hemangioendothelioma |
|
|
MONDO:0866236 |
retiform hemangioendothelioma |
GARD:21908 |
MONDO:equivalentTo |
Retiform hemangioendothelioma |
|
|
MONDO:0866237 |
primary intralymphatic angioendothelioma |
GARD:21909 |
MONDO:equivalentTo |
Primary intralymphatic angioendothelioma |
|
|
MONDO:0866238 |
congenital hemangioma |
GARD:21910 |
MONDO:equivalentTo |
Congenital hemangioma |
|
|
MONDO:0866239 |
partially involuting congenital hemangioma |
GARD:21911 |
MONDO:equivalentTo |
Partially involuting congenital hemangioma |
|
|
MONDO:0866240 |
mixed cystic lymphatic malformation |
GARD:21912 |
MONDO:equivalentTo |
Mixed cystic lymphatic malformation |
|
|
MONDO:0866241 |
vascular tumor with associated anomalies |
GARD:21913 |
MONDO:equivalentTo |
Vascular tumor with associated anomalies |
|
|
MONDO:0866242 |
rare capillary malformation with associated anomalies |
GARD:21914 |
MONDO:equivalentTo |
Rare capillary malformation with associated anomalies |
|
|
MONDO:0866243 |
common cystic lymphatic malformation |
GARD:21915 |
MONDO:equivalentTo |
Common cystic lymphatic malformation |
|
|
MONDO:0866244 |
rare combined vascular malformation |
GARD:21916 |
MONDO:equivalentTo |
Rare combined vascular malformation |
|
|
MONDO:0866245 |
rare vascular malformation of major vessels |
GARD:21917 |
MONDO:equivalentTo |
Rare vascular malformation of major vessels |
|
|
MONDO:0866246 |
corpus callosum agenesis-macrocephaly-hypertelorism syndrome |
GARD:21918 |
MONDO:equivalentTo |
Corpus callosum agenesis-macrocephaly-hypertelorism syndrome |
|
|
MONDO:0866247 |
immunodeficiency due to a complement cascade component deficiency |
GARD:21919 |
MONDO:equivalentTo |
Immunodeficiency due to a complement cascade component deficiency |
|
|
MONDO:0866248 |
congenital lethal erythroderma |
GARD:2192 |
MONDO:equivalentTo |
Congenital lethal erythroderma |
|
|
MONDO:0866249 |
immunodeficiency due to a complement regulatory deficiency |
GARD:21920 |
MONDO:equivalentTo |
Immunodeficiency due to a complement regulatory deficiency |
|
|
MONDO:0866250 |
rare genetic capillary malformation |
GARD:21921 |
MONDO:equivalentTo |
Rare genetic capillary malformation |
|
|
MONDO:0866251 |
genetic complex vascular malformation with associated anomalies |
GARD:21922 |
MONDO:equivalentTo |
Genetic complex vascular malformation with associated anomalies |
|
|
MONDO:0866252 |
rare genetic vascular tumor |
GARD:21923 |
MONDO:equivalentTo |
Rare genetic vascular tumor |
|
|
MONDO:0866253 |
rare genetic venous malformation |
GARD:21924 |
MONDO:equivalentTo |
Rare genetic venous malformation |
|
|
MONDO:0866254 |
lethal multiple congenital anomalies/dysmorphic syndrome |
GARD:21925 |
MONDO:equivalentTo |
Lethal multiple congenital anomalies/dysmorphic syndrome |
|
|
MONDO:0866255 |
intellectual disability syndrome due to a dyrk1a point mutation |
GARD:21926 |
MONDO:equivalentTo |
Intellectual disability syndrome due to a DYRK1A point mutation |
|
|
MONDO:0866256 |
verrucous hemangioma |
GARD:21927 |
MONDO:equivalentTo |
Verrucous hemangioma |
|
|
MONDO:0866257 |
benign metanephric tumor |
GARD:21928 |
MONDO:equivalentTo |
Benign metanephric tumor |
|
|
MONDO:0866258 |
neonatal alloimmune neutropenia |
GARD:21929 |
MONDO:equivalentTo |
Neonatal alloimmune neutropenia |
|
|
MONDO:0866259 |
acquired methemoglobinemia |
GARD:21930 |
MONDO:equivalentTo |
Acquired methemoglobinemia |
|
|
MONDO:0866260 |
paracetamol poisoning |
GARD:21931 |
MONDO:equivalentTo |
Paracetamol poisoning |
|
|
MONDO:0866261 |
familial gastric type 1 neuroendocrine tumor |
GARD:21932 |
MONDO:equivalentTo |
Familial gastric type 1 neuroendocrine tumor |
|
|
MONDO:0866262 |
immune-mediated acquired neuromuscular junction disease |
GARD:21933 |
MONDO:equivalentTo |
Immune-mediated acquired neuromuscular junction disease |
|
|
MONDO:0866263 |
genetic hemoglobinopathy |
GARD:21934 |
MONDO:equivalentTo |
Genetic hemoglobinopathy |
|
|
MONDO:0866264 |
genetic otorhinolaryngologic disease |
GARD:21935 |
MONDO:equivalentTo |
Genetic otorhinolaryngologic disease |
|
|
MONDO:0866265 |
exercise-induced malignant hyperthermia |
GARD:21936 |
MONDO:equivalentTo |
Exercise-induced malignant hyperthermia |
|
|
MONDO:0866266 |
rare disease with malignant hyperthermia |
GARD:21937 |
MONDO:equivalentTo |
Rare disease with malignant hyperthermia |
|
|
MONDO:0866267 |
cyanide poisoning |
GARD:21938 |
MONDO:equivalentTo |
Cyanide poisoning |
|
|
MONDO:0866268 |
scorpion envenomation |
GARD:21939 |
MONDO:equivalentTo |
Scorpion envenomation |
|
|
MONDO:0866269 |
euthyroid graves orbitopathy |
GARD:21940 |
MONDO:equivalentTo |
Euthyroid Graves orbitopathy |
|
|
MONDO:0866270 |
supratip dysplasia |
GARD:21941 |
MONDO:equivalentTo |
Supratip dysplasia |
|
|
MONDO:0866271 |
childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome |
GARD:21942 |
MONDO:equivalentTo |
Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome |
|
|
MONDO:0866272 |
smarca4-deficient sarcoma of thorax |
GARD:21943 |
MONDO:equivalentTo |
SMARCA4-deficient sarcoma of thorax |
|
|
MONDO:0866273 |
tubulinopathy-associated dysgyria |
GARD:21944 |
MONDO:equivalentTo |
Tubulinopathy-associated dysgyria |
|
|
MONDO:0866274 |
cryptogenic multifocal ulcerous stenosing enteritis |
GARD:21945 |
MONDO:equivalentTo |
Cryptogenic multifocal ulcerous stenosing enteritis |
|
|
MONDO:0866275 |
chronic enteropathy associated with slco2a1 gene |
GARD:21946 |
MONDO:equivalentTo |
Chronic enteropathy associated with SLCO2A1 gene |
|
|
MONDO:0866276 |
genetic lethal multiple congenital anomalies/dysmorphic syndrome |
GARD:21947 |
MONDO:equivalentTo |
Genetic lethal multiple congenital anomalies/dysmorphic syndrome |
|
|
MONDO:0866277 |
rare congenital anomaly of ventricular septum |
GARD:21948 |
MONDO:equivalentTo |
Rare congenital anomaly of ventricular septum |
|
|
MONDO:0866278 |
autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome |
GARD:21949 |
MONDO:equivalentTo |
Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome |
|
|
MONDO:0866279 |
thickened earlobes-conductive deafness syndrome |
GARD:2195 |
MONDO:equivalentTo |
Thickened earlobes-conductive deafness syndrome |
|
|
MONDO:0866280 |
erythrokeratodermia-cardiomyopathy syndrome |
GARD:21950 |
MONDO:equivalentTo |
Erythrokeratodermia-cardiomyopathy syndrome |
|
|
MONDO:0866281 |
axonal hereditary motor and sensory neuropathy |
GARD:21951 |
MONDO:equivalentTo |
Axonal hereditary motor and sensory neuropathy |
|
|
MONDO:0866282 |
demyelinating hereditary motor and sensory neuropathy |
GARD:21952 |
MONDO:equivalentTo |
Demyelinating hereditary motor and sensory neuropathy |
|
|
MONDO:0866283 |
autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome |
GARD:21953 |
MONDO:equivalentTo |
Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome |
|
|
MONDO:0866284 |
intermediate charcot-marie-tooth disease |
GARD:21954 |
MONDO:equivalentTo |
Intermediate Charcot-Marie-Tooth disease |
|
|
MONDO:0866285 |
hypercontractile muscle stiffness syndrome |
GARD:21955 |
MONDO:equivalentTo |
Hypercontractile muscle stiffness syndrome |
|
|
MONDO:0866286 |
congenital generalized hypercontractile muscle stiffness syndrome |
GARD:21956 |
MONDO:equivalentTo |
Congenital generalized hypercontractile muscle stiffness syndrome |
|
|
MONDO:0866287 |
type 1 interferonopathy |
GARD:21957 |
MONDO:equivalentTo |
Type 1 interferonopathy |
|
|
MONDO:0866288 |
fibroblastic rheumatism |
GARD:21958 |
MONDO:equivalentTo |
Fibroblastic rheumatism |
|
|
MONDO:0866289 |
nodular fasciitis |
GARD:21959 |
MONDO:equivalentTo |
Nodular fasciitis |
|
|
MONDO:0866290 |
genetic cerebral small vessel disease |
GARD:21960 |
MONDO:equivalentTo |
Genetic cerebral small vessel disease |
|
|
MONDO:0866291 |
col4a1 or col4a2-related cerebral small vessel disease |
GARD:21961 |
MONDO:equivalentTo |
COL4A1 or COL4A2-related cerebral small vessel disease |
|
|
MONDO:0866292 |
col4a1 or col4a2-related cerebral small vessel disease with ischemic tendancy |
GARD:21962 |
MONDO:equivalentTo |
COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy |
|
|
MONDO:0866293 |
col4a1 or col4a2-related cerebral small vessel disease with hemorrhagic tendancy |
GARD:21963 |
MONDO:equivalentTo |
COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy |
|
|
MONDO:0866294 |
moyamoya angiopathy |
GARD:21964 |
MONDO:equivalentTo |
Moyamoya angiopathy |
|
|
MONDO:0866295 |
rare disorder with a moyamoya angiopathy |
GARD:21965 |
MONDO:equivalentTo |
Rare disorder with a moyamoya angiopathy |
|
|
MONDO:0866296 |
primary condylar hyperplasia |
GARD:21966 |
MONDO:equivalentTo |
Primary condylar hyperplasia |
|
|
MONDO:0866297 |
syndromic constitutional thrombocytopenia |
GARD:21967 |
MONDO:equivalentTo |
Syndromic constitutional thrombocytopenia |
|
|
MONDO:0866298 |
isolated constitutional thrombocytopenia |
GARD:21968 |
MONDO:equivalentTo |
Isolated constitutional thrombocytopenia |
|
|
MONDO:0866299 |
genetic cardiac malformation |
GARD:21969 |
MONDO:equivalentTo |
Genetic cardiac malformation |
|
|
MONDO:0866300 |
esthesioneuroblastoma |
GARD:2197 |
MONDO:equivalentTo |
Esthesioneuroblastoma |
|
|
MONDO:0866301 |
other genetic dermis disorder |
GARD:21970 |
MONDO:equivalentTo |
Other genetic dermis disorder |
|
|
MONDO:0866302 |
rare hypercholesterolemia |
GARD:21971 |
MONDO:equivalentTo |
Rare hypercholesterolemia |
|
|
MONDO:0866303 |
myo5b-related progressive familial intrahepatic cholestasis |
GARD:21972 |
MONDO:equivalentTo |
MYO5B-related progressive familial intrahepatic cholestasis |
|
|
MONDO:0866304 |
choledochal cyst |
GARD:21973 |
MONDO:equivalentTo |
Choledochal cyst |
|
|
MONDO:0866305 |
primary intrahepatic lithiasis |
GARD:21974 |
MONDO:equivalentTo |
Primary intrahepatic lithiasis |
|
|
MONDO:0866306 |
idiopathic ductopenia |
GARD:21975 |
MONDO:equivalentTo |
Idiopathic ductopenia |
|
|
MONDO:0866307 |
caroli syndrome |
GARD:21976 |
MONDO:equivalentTo |
Caroli syndrome |
|
|
MONDO:0866308 |
idiopathic peliosis hepatis |
GARD:21977 |
MONDO:equivalentTo |
Idiopathic peliosis hepatis |
|
|
MONDO:0866309 |
lethal hydranencephaly-diaphragmatic hernia syndrome |
GARD:21978 |
MONDO:equivalentTo |
Lethal hydranencephaly-diaphragmatic hernia syndrome |
|
|
MONDO:0866310 |
congenital portosystemic shunt |
GARD:21979 |
MONDO:equivalentTo |
Congenital portosystemic shunt |
|
|
MONDO:0866311 |
ethylmalonic encephalopathy |
GARD:2198 |
MONDO:equivalentTo |
Ethylmalonic encephalopathy |
|
|
MONDO:0866312 |
high grade b-cell lymphoma with myc and/ or bcl2 and/or bcl6 rearrangement |
GARD:21980 |
MONDO:equivalentTo |
High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement |
|
|
MONDO:0866313 |
non-severe combined immunodeficiency |
GARD:21981 |
MONDO:equivalentTo |
Non-severe combined immunodeficiency |
|
|
MONDO:0866314 |
aneurysmal bone cyst |
GARD:21982 |
MONDO:equivalentTo |
Aneurysmal bone cyst |
|
|
MONDO:0866315 |
isolated neonatal sclerosing cholangitis |
GARD:21983 |
MONDO:equivalentTo |
Isolated neonatal sclerosing cholangitis |
|
|
MONDO:0866316 |
facial diplegia with paresthesias |
GARD:21984 |
MONDO:equivalentTo |
Facial diplegia with paresthesias |
|
|
MONDO:0866317 |
gastroenteric neuroendocrine neoplasm |
GARD:21985 |
MONDO:equivalentTo |
Gastroenteric neuroendocrine neoplasm |
|
|
MONDO:0866318 |
type 1 interferonopathy of childhood |
GARD:21986 |
MONDO:equivalentTo |
Type 1 interferonopathy of childhood |
|
|
MONDO:0866319 |
genetic alopecia |
GARD:21987 |
MONDO:equivalentTo |
Genetic alopecia |
|
|
MONDO:0866320 |
htra1-related cerebral small vessel disease |
GARD:21988 |
MONDO:equivalentTo |
HTRA1-related cerebral small vessel disease |
|
|
MONDO:0866321 |
rare idiopathic macular telangiectasia |
GARD:21989 |
MONDO:equivalentTo |
Rare idiopathic macular telangiectasia |
|
|
MONDO:0866322 |
x-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome |
GARD:21990 |
MONDO:equivalentTo |
X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome |
|
|
MONDO:0866323 |
propylthiouracil embryofetopathy |
GARD:21991 |
MONDO:equivalentTo |
Propylthiouracil embryofetopathy |
|
|
MONDO:0866324 |
genetic non-acquired premature ovarian failure |
GARD:21992 |
MONDO:equivalentTo |
Genetic non-acquired premature ovarian failure |
|
|
MONDO:0866325 |
16p12.1p12.3 triplication syndrome |
GARD:21993 |
MONDO:equivalentTo |
16p12.1p12.3 triplication syndrome |
|
|
MONDO:0866326 |
emilin-1-related connective tissue disease |
GARD:21994 |
MONDO:equivalentTo |
EMILIN-1-related connective tissue disease |
|
|
MONDO:0866327 |
isolated congenital hepatic fibrosis |
GARD:21995 |
MONDO:equivalentTo |
Isolated congenital hepatic fibrosis |
|
|
MONDO:0866328 |
congenital bile acid synthesis defect |
GARD:21996 |
MONDO:equivalentTo |
Congenital bile acid synthesis defect |
|
|
MONDO:0866329 |
rare pediatric rheumatologic disease |
GARD:21997 |
MONDO:equivalentTo |
Rare pediatric rheumatologic disease |
|
|
MONDO:0866330 |
pediatric collagenous gastritis |
GARD:21998 |
MONDO:equivalentTo |
Pediatric collagenous gastritis |
|
|
MONDO:0866331 |
autosomal dominant charcot-marie-tooth disease type 2 due to dgat2 mutation |
GARD:21999 |
MONDO:equivalentTo |
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation |
|
|
MONDO:0866332 |
björnstad syndrome |
GARD:22 |
MONDO:equivalentTo |
Björnstad syndrome |
|
|
MONDO:0866333 |
peripartum cardiomyopathy |
GARD:220 |
MONDO:equivalentTo |
Peripartum cardiomyopathy |
|
|
MONDO:0866334 |
acute macular neuroretinopathy |
GARD:22000 |
MONDO:equivalentTo |
Acute macular neuroretinopathy |
|
|
MONDO:0866335 |
six2-related frontonasal dysplasia |
GARD:22001 |
MONDO:equivalentTo |
SIX2-related frontonasal dysplasia |
|
|
MONDO:0866336 |
congenital amyoplasia |
GARD:22002 |
MONDO:equivalentTo |
Congenital amyoplasia |
|
|
MONDO:0866337 |
extracranial carotid artery aneurysm |
GARD:22003 |
MONDO:equivalentTo |
Extracranial carotid artery aneurysm |
|
|
MONDO:0866338 |
idiopathic pleuroparenchymal fibroelastosis |
GARD:22004 |
MONDO:equivalentTo |
Idiopathic pleuroparenchymal fibroelastosis |
|
|
MONDO:0866339 |
vulvar squamous cell carcinoma |
GARD:22005 |
MONDO:equivalentTo |
Vulvar squamous cell carcinoma |
|
|
MONDO:0866340 |
vulvar basal cell carcinoma |
GARD:22006 |
MONDO:equivalentTo |
Vulvar basal cell carcinoma |
|
|
MONDO:0866341 |
vulvar adenocarcinoma |
GARD:22007 |
MONDO:equivalentTo |
Vulvar adenocarcinoma |
|
|
MONDO:0866342 |
rare hyperkinetic movement disorder |
GARD:22008 |
MONDO:equivalentTo |
Rare hyperkinetic movement disorder |
|
|
MONDO:0866343 |
9q33.3q34.11 microdeletion syndrome |
GARD:22009 |
MONDO:equivalentTo |
9q33.3q34.11 microdeletion syndrome |
|
|
MONDO:0866344 |
congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome |
GARD:22010 |
MONDO:equivalentTo |
Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome |
|
|
MONDO:0866345 |
congenital agenesis of the scrotum |
GARD:22011 |
MONDO:equivalentTo |
Congenital agenesis of the scrotum |
|
|
MONDO:0866346 |
kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome |
GARD:22012 |
MONDO:equivalentTo |
Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome |
|
|
MONDO:0866347 |
rare genetic hyperkinetic movement disorder |
GARD:22013 |
MONDO:equivalentTo |
Rare genetic hyperkinetic movement disorder |
|
|
MONDO:0866348 |
non-inflammatory vasculopathy |
GARD:22014 |
MONDO:equivalentTo |
Non-inflammatory vasculopathy |
|
|
MONDO:0866349 |
c12orf65-related combined oxidative phosphorylation defect |
GARD:22015 |
MONDO:equivalentTo |
C12ORF65-related combined oxidative phosphorylation defect |
|
|
MONDO:0866350 |
epidermolytic nevus |
GARD:22016 |
MONDO:equivalentTo |
Epidermolytic nevus |
|
|
MONDO:0866351 |
menstrual cycle-dependent periodic fever |
GARD:22017 |
MONDO:equivalentTo |
Menstrual cycle-dependent periodic fever |
|
|
MONDO:0866352 |
biliary atresia and associated disorders |
GARD:22018 |
MONDO:equivalentTo |
Biliary atresia and associated disorders |
|
|
MONDO:0866353 |
syndromic biliary atresia |
GARD:22019 |
MONDO:equivalentTo |
Syndromic biliary atresia |
|
|
MONDO:0866354 |
exostoses-anetodermia-brachydactyly type e syndrome |
GARD:2202 |
MONDO:equivalentTo |
Exostoses-anetodermia-brachydactyly type E syndrome |
|
|
MONDO:0866355 |
genetic inflammatory or rheumatoid-like osteoarthropathy |
GARD:22020 |
MONDO:equivalentTo |
Genetic inflammatory or rheumatoid-like osteoarthropathy |
|
|
MONDO:0866356 |
overgrowth or tall stature syndrome with skeletal involvement |
GARD:22021 |
MONDO:equivalentTo |
Overgrowth or tall stature syndrome with skeletal involvement |
|
|
MONDO:0866357 |
dysostosis with brachydactyly without extraskeletal manifestations |
GARD:22022 |
MONDO:equivalentTo |
Dysostosis with brachydactyly without extraskeletal manifestations |
|
|
MONDO:0866358 |
dysostosis with brachydactyly with extraskeletal manifestations |
GARD:22023 |
MONDO:equivalentTo |
Dysostosis with brachydactyly with extraskeletal manifestations |
|
|
MONDO:0866359 |
longitudinal limb defect |
GARD:22024 |
MONDO:equivalentTo |
Longitudinal limb defect |
|
|
MONDO:0866360 |
terminal transverse limb defect |
GARD:22025 |
MONDO:equivalentTo |
Terminal transverse limb defect |
|
|
MONDO:0866361 |
non-syndromic preaxial polydactyly |
GARD:22026 |
MONDO:equivalentTo |
Non-syndromic preaxial polydactyly |
|
|
MONDO:0866362 |
non-syndromic postaxial polydactyly |
GARD:22027 |
MONDO:equivalentTo |
Non-syndromic postaxial polydactyly |
|
|
MONDO:0866363 |
non-syndromic complex polydactyly |
GARD:22028 |
MONDO:equivalentTo |
Non-syndromic complex polydactyly |
|
|
MONDO:0866364 |
hyaline fibromatosis syndrome |
GARD:22029 |
MONDO:equivalentTo |
Hyaline fibromatosis syndrome |
|
|
MONDO:0866365 |
ectrodactyly with and without other manifestations |
GARD:22030 |
MONDO:equivalentTo |
Ectrodactyly with and without other manifestations |
|
|
MONDO:0866366 |
lrp5-related primary osteoporosis |
GARD:22031 |
MONDO:equivalentTo |
LRP5-related primary osteoporosis |
|
|
MONDO:0866367 |
overgrowth syndrome with 2q37 translocation |
GARD:22032 |
MONDO:equivalentTo |
Overgrowth syndrome with 2q37 translocation |
|
|
MONDO:0866368 |
complete hemimelia |
GARD:22033 |
MONDO:equivalentTo |
Complete hemimelia |
|
|
MONDO:0866369 |
mirror-image polydactyly |
GARD:22034 |
MONDO:equivalentTo |
Mirror-image polydactyly |
|
|
MONDO:0866370 |
mybpc1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome |
GARD:22035 |
MONDO:equivalentTo |
MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome |
|
|
MONDO:0866371 |
congenital syphilis |
GARD:22036 |
MONDO:equivalentTo |
Congenital syphilis |
|
|
MONDO:0866372 |
autoimmune/inflammatory optic neuropathy |
GARD:22037 |
MONDO:equivalentTo |
Autoimmune/inflammatory optic neuropathy |
|
|
MONDO:0866373 |
chronic relapsing inflammatory optic neuropathy |
GARD:22038 |
MONDO:equivalentTo |
Chronic relapsing inflammatory optic neuropathy |
|
|
MONDO:0866374 |
isolated optic neuritis |
GARD:22039 |
MONDO:equivalentTo |
Isolated optic neuritis |
|
|
MONDO:0866375 |
recurrent idiopathic neuroretinitis |
GARD:22040 |
MONDO:equivalentTo |
Recurrent idiopathic neuroretinitis |
|
|
MONDO:0866376 |
idiopathic optic perineuritis |
GARD:22041 |
MONDO:equivalentTo |
Idiopathic optic perineuritis |
|
|
MONDO:0866377 |
pilomatrix carcinoma |
GARD:22042 |
MONDO:equivalentTo |
Pilomatrix carcinoma |
|
|
MONDO:0866378 |
witteveen-kolk syndrome |
GARD:22043 |
MONDO:equivalentTo |
Witteveen-Kolk syndrome |
|
|
MONDO:0866379 |
cochleovestibular malformation |
GARD:22044 |
MONDO:equivalentTo |
Cochleovestibular malformation |
|
|
MONDO:0866380 |
cochlear nerve deficiency |
GARD:22045 |
MONDO:equivalentTo |
Cochlear nerve deficiency |
|
|
MONDO:0866381 |
squamous cell carcinoma of oral cavity and lip |
GARD:22046 |
MONDO:equivalentTo |
Squamous cell carcinoma of oral cavity and lip |
|
|
MONDO:0866382 |
metopic ridging-ptosis-facial dysmorphism syndrome |
GARD:22047 |
MONDO:equivalentTo |
Metopic ridging-ptosis-facial dysmorphism syndrome |
|
|
MONDO:0866383 |
4q25 proximal deletion syndrome |
GARD:22048 |
MONDO:equivalentTo |
4q25 proximal deletion syndrome |
|
|
MONDO:0866384 |
erythema multiforme major |
GARD:22049 |
MONDO:equivalentTo |
Erythema multiforme major |
|
|
MONDO:0866385 |
3-methylglutaconic aciduria type 8 |
GARD:22050 |
MONDO:equivalentTo |
3-methylglutaconic aciduria type 8 |
|
|
MONDO:0866386 |
ventilator-induced diaphragmatic dysfunction |
GARD:22051 |
MONDO:equivalentTo |
Ventilator-induced diaphragmatic dysfunction |
|
|
MONDO:0866387 |
neuroendocrine neoplasm of pancreas |
GARD:22052 |
MONDO:equivalentTo |
Neuroendocrine neoplasm of pancreas |
|
|
MONDO:0866388 |
functioning neuroendocrine tumor of pancreas |
GARD:22053 |
MONDO:equivalentTo |
Functioning neuroendocrine tumor of pancreas |
|
|
MONDO:0866389 |
non-functioning neuroendocrine tumor of pancreas |
GARD:22054 |
MONDO:equivalentTo |
Non-functioning neuroendocrine tumor of pancreas |
|
|
MONDO:0866390 |
serotonin-producing neuroendocrine tumor of pancreas |
GARD:22055 |
MONDO:equivalentTo |
Serotonin-producing neuroendocrine tumor of pancreas |
|
|
MONDO:0866391 |
neuroendocrine carcinoma of pancreas |
GARD:22056 |
MONDO:equivalentTo |
Neuroendocrine carcinoma of pancreas |
|
|
MONDO:0866392 |
mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas |
GARD:22057 |
MONDO:equivalentTo |
Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas |
|
|
MONDO:0866393 |
neuroendocrine neoplasm of esophagus |
GARD:22058 |
MONDO:equivalentTo |
Neuroendocrine neoplasm of esophagus |
|
|
MONDO:0866394 |
rare disorder potentially indicated for transplant |
GARD:22059 |
MONDO:equivalentTo |
Rare disorder potentially indicated for transplant |
|
|
MONDO:0866395 |
rare disorder potentially indicated for liver transplant |
GARD:22060 |
MONDO:equivalentTo |
Rare disorder potentially indicated for liver transplant |
|
|
MONDO:0866396 |
rare disorder potentially indicated for kidney transplant |
GARD:22061 |
MONDO:equivalentTo |
Rare disorder potentially indicated for kidney transplant |
|
|
MONDO:0866397 |
rare disorder potentially indicated for bowel transplant |
GARD:22062 |
MONDO:equivalentTo |
Rare disorder potentially indicated for bowel transplant |
|
|
MONDO:0866398 |
rare disorder potentially indicated for hematopoietic stem cell transplant |
GARD:22063 |
MONDO:equivalentTo |
Rare disorder potentially indicated for hematopoietic stem cell transplant |
|
|
MONDO:0866399 |
rare disorder potentially indicated for lung transplant |
GARD:22064 |
MONDO:equivalentTo |
Rare disorder potentially indicated for lung transplant |
|
|
MONDO:0866400 |
rare disorder potentially indicated for heart transplant |
GARD:22065 |
MONDO:equivalentTo |
Rare disorder potentially indicated for heart transplant |
|
|
MONDO:0866401 |
stevens-johnson syndrome/toxic epidermal necrolysis overlap syndrome |
GARD:22066 |
MONDO:equivalentTo |
Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome |
|
|
MONDO:0866402 |
familial intestinal malrotation |
GARD:22067 |
MONDO:equivalentTo |
Familial intestinal malrotation |
|
|
MONDO:0866403 |
cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome |
GARD:22068 |
MONDO:equivalentTo |
Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome |
|
|
MONDO:0866404 |
oral-facial-digital syndrome with short stature and brachymesophalangy |
GARD:22069 |
MONDO:equivalentTo |
Oral-facial-digital syndrome with short stature and brachymesophalangy |
|
|
MONDO:0866405 |
exstrophy-epispadias complex |
GARD:2207 |
MONDO:equivalentTo |
Exstrophy-epispadias complex |
|
|
MONDO:0866406 |
skeletal dysplasia-t-cell immunodeficiency-developmental delay syndrome |
GARD:22070 |
MONDO:equivalentTo |
Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome |
|
|
MONDO:0866407 |
congenital progressive bone marrow failure-b-cell immunodeficiency-skeletal dysplasia syndrome |
GARD:22071 |
MONDO:equivalentTo |
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome |
|
|
MONDO:0866408 |
chronic lymphoproliferative disorder of natural killer cells |
GARD:22072 |
MONDO:equivalentTo |
Chronic lymphoproliferative disorder of natural killer cells |
|
|
MONDO:0866409 |
large granular lymphocyte leukemia |
GARD:22073 |
MONDO:equivalentTo |
Large granular lymphocyte leukemia |
|
|
MONDO:0866410 |
autosomal recessive epidermolytic ichthyosis |
GARD:22074 |
MONDO:equivalentTo |
Autosomal recessive epidermolytic ichthyosis |
|
|
MONDO:0866411 |
congenital cerebellar ataxia due to rnu12 mutation |
GARD:22075 |
MONDO:equivalentTo |
Congenital cerebellar ataxia due to RNU12 mutation |
|
|
MONDO:0866412 |
congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome |
GARD:22076 |
MONDO:equivalentTo |
Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome |
|
|
MONDO:0866413 |
atp13a2-related parkinsonism |
GARD:22077 |
MONDO:equivalentTo |
ATP13A2-related parkinsonism |
|
|
MONDO:0866414 |
inflammatory/autoimmune disorder involving the lacrimal system |
GARD:22078 |
MONDO:equivalentTo |
Inflammatory/autoimmune disorder involving the lacrimal system |
|
|
MONDO:0866415 |
rare disorder of the ocular adnexa |
GARD:22079 |
MONDO:equivalentTo |
Rare disorder of the ocular adnexa |
|
|
MONDO:0866416 |
rare disorder with ectropion |
GARD:22080 |
MONDO:equivalentTo |
Rare disorder with ectropion |
|
|
MONDO:0866417 |
rare disorder with entropion |
GARD:22081 |
MONDO:equivalentTo |
Rare disorder with entropion |
|
|
MONDO:0866418 |
structural developmental eye defect |
GARD:22082 |
MONDO:equivalentTo |
Structural developmental eye defect |
|
|
MONDO:0866419 |
syndromic lacrimal system disorder |
GARD:22083 |
MONDO:equivalentTo |
Syndromic lacrimal system disorder |
|
|
MONDO:0866420 |
anterior segment developmental abnormality with extraocular manifestations |
GARD:22084 |
MONDO:equivalentTo |
Anterior segment developmental abnormality with extraocular manifestations |
|
|
MONDO:0866421 |
infective keratitis |
GARD:22085 |
MONDO:equivalentTo |
Infective keratitis |
|
|
MONDO:0866422 |
rare conjunctivitis |
GARD:22086 |
MONDO:equivalentTo |
Rare conjunctivitis |
|
|
MONDO:0866423 |
rare corneal disorder |
GARD:22087 |
MONDO:equivalentTo |
Rare corneal disorder |
|
|
MONDO:0866424 |
rare disorder of the anterior segment of the eye |
GARD:22088 |
MONDO:equivalentTo |
Rare disorder of the anterior segment of the eye |
|
|
MONDO:0866425 |
rare disorder of the pupil |
GARD:22089 |
MONDO:equivalentTo |
Rare disorder of the pupil |
|
|
MONDO:0866426 |
rare disorder with corneal involvement as a major feature |
GARD:22090 |
MONDO:equivalentTo |
Rare disorder with corneal involvement as a major feature |
|
|
MONDO:0866427 |
rare inflammatory/autoimmune corneal disorder |
GARD:22091 |
MONDO:equivalentTo |
Rare inflammatory/autoimmune corneal disorder |
|
|
MONDO:0866428 |
syndromic ectopia lentis |
GARD:22092 |
MONDO:equivalentTo |
Syndromic ectopia lentis |
|
|
MONDO:0866429 |
syndromic microspherophakia |
GARD:22093 |
MONDO:equivalentTo |
Syndromic microspherophakia |
|
|
MONDO:0866430 |
rare disorder with pigmented sclera |
GARD:22094 |
MONDO:equivalentTo |
Rare disorder with pigmented sclera |
|
|
MONDO:0866431 |
rare scleral disorder |
GARD:22095 |
MONDO:equivalentTo |
Rare scleral disorder |
|
|
MONDO:0866432 |
isolated chorioretinal dystrophy |
GARD:22096 |
MONDO:equivalentTo |
Isolated chorioretinal dystrophy |
|
|
MONDO:0866433 |
isolated macular dystrophy |
GARD:22097 |
MONDO:equivalentTo |
Isolated macular dystrophy |
|
|
MONDO:0866434 |
isolated vitreoretinopathy |
GARD:22098 |
MONDO:equivalentTo |
Isolated vitreoretinopathy |
|
|
MONDO:0866435 |
isolated progressive inherited retinal disorder |
GARD:22099 |
MONDO:equivalentTo |
Isolated progressive inherited retinal disorder |
|
|
MONDO:0866436 |
dilated cardiomyopathy |
GARD:221 |
MONDO:equivalentTo |
Dilated cardiomyopathy |
|
|
MONDO:0866437 |
rare choroidal disorder |
GARD:22100 |
MONDO:equivalentTo |
Rare choroidal disorder |
|
|
MONDO:0866438 |
rare disorder of the posterior segment of the eye |
GARD:22101 |
MONDO:equivalentTo |
Rare disorder of the posterior segment of the eye |
|
|
MONDO:0866439 |
rare macular disorder |
GARD:22102 |
MONDO:equivalentTo |
Rare macular disorder |
|
|
MONDO:0866440 |
rare retinal disorder |
GARD:22103 |
MONDO:equivalentTo |
Rare retinal disorder |
|
|
MONDO:0866441 |
rare retinal vasculopathy |
GARD:22104 |
MONDO:equivalentTo |
Rare retinal vasculopathy |
|
|
MONDO:0866442 |
isolated stationary inherited retinal disorder |
GARD:22105 |
MONDO:equivalentTo |
Isolated stationary inherited retinal disorder |
|
|
MONDO:0866443 |
syndromic chorioretinal dystrophy |
GARD:22106 |
MONDO:equivalentTo |
Syndromic chorioretinal dystrophy |
|
|
MONDO:0866444 |
syndromic macular dystrophy |
GARD:22107 |
MONDO:equivalentTo |
Syndromic macular dystrophy |
|
|
MONDO:0866445 |
syndromic inherited retinal disorder |
GARD:22108 |
MONDO:equivalentTo |
Syndromic inherited retinal disorder |
|
|
MONDO:0866446 |
syndromic vitreoretinopathy |
GARD:22109 |
MONDO:equivalentTo |
Syndromic vitreoretinopathy |
|
|
MONDO:0866447 |
rare disorder involving multiple structures of the eye |
GARD:22110 |
MONDO:equivalentTo |
Rare disorder involving multiple structures of the eye |
|
|
MONDO:0866448 |
secondary early-onset glaucoma |
GARD:22111 |
MONDO:equivalentTo |
Secondary early-onset glaucoma |
|
|
MONDO:0866449 |
congenital optic disc excavation |
GARD:22112 |
MONDO:equivalentTo |
Congenital optic disc excavation |
|
|
MONDO:0866450 |
disorder with optic nerve compression |
GARD:22113 |
MONDO:equivalentTo |
Disorder with optic nerve compression |
|
|
MONDO:0866451 |
pseudopapilledema |
GARD:22114 |
MONDO:equivalentTo |
Pseudopapilledema |
|
|
MONDO:0866452 |
rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature |
GARD:22115 |
MONDO:equivalentTo |
Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature |
|
|
MONDO:0866453 |
rare ophthalmic disorder with cortical involvement |
GARD:22116 |
MONDO:equivalentTo |
Rare ophthalmic disorder with cortical involvement |
|
|
MONDO:0866454 |
rare disorder with optic disc malformation |
GARD:22117 |
MONDO:equivalentTo |
Rare disorder with optic disc malformation |
|
|
MONDO:0866455 |
rare neuromuscular disorder with ocular motility/alignment anomaly |
GARD:22118 |
MONDO:equivalentTo |
Rare neuromuscular disorder with ocular motility/alignment anomaly |
|
|
MONDO:0866456 |
rare ophthalmic disorder with cranial nerve involvement |
GARD:22119 |
MONDO:equivalentTo |
Rare ophthalmic disorder with cranial nerve involvement |
|
|
MONDO:0866457 |
rare optic nerve disorder |
GARD:22120 |
MONDO:equivalentTo |
Rare optic nerve disorder |
|
|
MONDO:0866458 |
rare trochlear nerve disorder |
GARD:22121 |
MONDO:equivalentTo |
Rare trochlear nerve disorder |
|
|
MONDO:0866459 |
rare ocular motility/alignment disorder |
GARD:22122 |
MONDO:equivalentTo |
Rare ocular motility/alignment disorder |
|
|
MONDO:0866460 |
isolated congenital entropion |
GARD:22123 |
MONDO:equivalentTo |
Isolated congenital entropion |
|
|
MONDO:0866461 |
isolated blepharochalasis |
GARD:22124 |
MONDO:equivalentTo |
Isolated blepharochalasis |
|
|
MONDO:0866462 |
isolated iridoschisis |
GARD:22125 |
MONDO:equivalentTo |
Isolated iridoschisis |
|
|
MONDO:0866463 |
isolated microspherophakia |
GARD:22126 |
MONDO:equivalentTo |
Isolated microspherophakia |
|
|
MONDO:0866464 |
isolated foveal hypoplasia |
GARD:22127 |
MONDO:equivalentTo |
Isolated foveal hypoplasia |
|
|
MONDO:0866465 |
peripapillary staphyloma |
GARD:22128 |
MONDO:equivalentTo |
Peripapillary staphyloma |
|
|
MONDO:0866466 |
isolated megalopapilla |
GARD:22129 |
MONDO:equivalentTo |
Isolated megalopapilla |
|
|
MONDO:0866467 |
extrasystoles-short stature-hyperpigmentation-microcephaly syndrome |
GARD:2213 |
MONDO:equivalentTo |
Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome |
|
|
MONDO:0866468 |
optic disc pit |
GARD:22130 |
MONDO:equivalentTo |
Optic disc pit |
|
|
MONDO:0866469 |
thygeson superficial punctate keratitis |
GARD:22131 |
MONDO:equivalentTo |
Thygeson superficial punctate keratitis |
|
|
MONDO:0866470 |
mooren ulcer |
GARD:22132 |
MONDO:equivalentTo |
Mooren ulcer |
|
|
MONDO:0866471 |
terrien marginal degeneration |
GARD:22133 |
MONDO:equivalentTo |
Terrien marginal degeneration |
|
|
MONDO:0866472 |
fungal keratitis |
GARD:22134 |
MONDO:equivalentTo |
Fungal keratitis |
|
|
MONDO:0866473 |
rare disorder of the visual organs |
GARD:22135 |
MONDO:equivalentTo |
Rare disorder of the visual organs |
|
|
MONDO:0866474 |
isolated inherited retinal disorder |
GARD:22136 |
MONDO:equivalentTo |
Isolated inherited retinal disorder |
|
|
MONDO:0866475 |
radiation-induced plexopathy |
GARD:22137 |
MONDO:equivalentTo |
Radiation-induced plexopathy |
|
|
MONDO:0866476 |
osteoradionecrosis of the mandible |
GARD:22138 |
MONDO:equivalentTo |
Osteoradionecrosis of the mandible |
|
|
MONDO:0866477 |
radiation-induced disorder |
GARD:22139 |
MONDO:equivalentTo |
Radiation-induced disorder |
|
|
MONDO:0866478 |
genetic primary orthostatic disorder |
GARD:22140 |
MONDO:equivalentTo |
Genetic primary orthostatic disorder |
|
|
MONDO:0866479 |
primary orthostatic disorder |
GARD:22141 |
MONDO:equivalentTo |
Primary orthostatic disorder |
|
|
MONDO:0866480 |
frontonasal dysplasia-bifid nose-upper limb anomalies syndrome |
GARD:22142 |
MONDO:equivalentTo |
Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome |
|
|
MONDO:0866481 |
autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect |
GARD:22143 |
MONDO:equivalentTo |
Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect |
|
|
MONDO:0866482 |
congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome |
GARD:22144 |
MONDO:equivalentTo |
Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome |
|
|
MONDO:0866483 |
microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome |
GARD:22145 |
MONDO:equivalentTo |
Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome |
|
|
MONDO:0866484 |
lama5-related multisystemic syndrome |
GARD:22146 |
MONDO:equivalentTo |
LAMA5-related multisystemic syndrome |
|
|
MONDO:0866485 |
primary autoimmune enteropathy |
GARD:22147 |
MONDO:equivalentTo |
Primary autoimmune enteropathy |
|
|
MONDO:0866486 |
syndromic autoimmune enteropathy |
GARD:22148 |
MONDO:equivalentTo |
Syndromic autoimmune enteropathy |
|
|
MONDO:0866487 |
rare genetic disorder of the visual organs |
GARD:22149 |
MONDO:equivalentTo |
Rare genetic disorder of the visual organs |
|
|
MONDO:0866488 |
rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature |
GARD:22150 |
MONDO:equivalentTo |
Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature |
|
|
MONDO:0866489 |
rare genetic ophthalmic disorder with cortical involvement |
GARD:22151 |
MONDO:equivalentTo |
Rare genetic ophthalmic disorder with cortical involvement |
|
|
MONDO:0866490 |
rare genetic ophthalmic disorder with cranial nerve involvement |
GARD:22152 |
MONDO:equivalentTo |
Rare genetic ophthalmic disorder with cranial nerve involvement |
|
|
MONDO:0866491 |
rare genetic optic nerve disorder |
GARD:22153 |
MONDO:equivalentTo |
Rare genetic optic nerve disorder |
|
|
MONDO:0866492 |
congenital optic disc excavation of genetic origin |
GARD:22154 |
MONDO:equivalentTo |
Congenital optic disc excavation of genetic origin |
|
|
MONDO:0866493 |
rare genetic ocular motility/alignment disorder |
GARD:22155 |
MONDO:equivalentTo |
Rare genetic ocular motility/alignment disorder |
|
|
MONDO:0866494 |
rare genetic disorder with strabismus |
GARD:22156 |
MONDO:equivalentTo |
Rare genetic disorder with strabismus |
|
|
MONDO:0866495 |
syndromic genetic disorder with strabismus |
GARD:22157 |
MONDO:equivalentTo |
Syndromic genetic disorder with strabismus |
|
|
MONDO:0866496 |
rare genetic neuromuscular disorder with ocular motility/alignment anomaly |
GARD:22158 |
MONDO:equivalentTo |
Rare genetic neuromuscular disorder with ocular motility/alignment anomaly |
|
|
MONDO:0866497 |
rare genetic disorder of the ocular adnexa |
GARD:22159 |
MONDO:equivalentTo |
Rare genetic disorder of the ocular adnexa |
|
|
MONDO:0866498 |
eyebrow duplication-syndactyly syndrome |
GARD:2216 |
MONDO:equivalentTo |
Eyebrow duplication-syndactyly syndrome |
|
|
MONDO:0866499 |
rare genetic palpebral disorder |
GARD:22160 |
MONDO:equivalentTo |
Rare genetic palpebral disorder |
|
|
MONDO:0866500 |
rare genetic eyelid malposition disorder |
GARD:22161 |
MONDO:equivalentTo |
Rare genetic eyelid malposition disorder |
|
|
MONDO:0866501 |
rare genetic disorder with entropion |
GARD:22162 |
MONDO:equivalentTo |
Rare genetic disorder with entropion |
|
|
MONDO:0866502 |
rare genetic disorder of the lacrimal apparatus |
GARD:22163 |
MONDO:equivalentTo |
Rare genetic disorder of the lacrimal apparatus |
|
|
MONDO:0866503 |
lacrimal drainage system anomaly of genetic origin |
GARD:22164 |
MONDO:equivalentTo |
Lacrimal drainage system anomaly of genetic origin |
|
|
MONDO:0866504 |
structural developmental eye defect of genetic origin |
GARD:22165 |
MONDO:equivalentTo |
Structural developmental eye defect of genetic origin |
|
|
MONDO:0866505 |
rare genetic disorder of the anterior segment of the eye |
GARD:22166 |
MONDO:equivalentTo |
Rare genetic disorder of the anterior segment of the eye |
|
|
MONDO:0866506 |
anterior segment developmental anomaly of genetic origin |
GARD:22167 |
MONDO:equivalentTo |
Anterior segment developmental anomaly of genetic origin |
|
|
MONDO:0866507 |
rare genetic disorder with conjunctival involvement as a major feature |
GARD:22168 |
MONDO:equivalentTo |
Rare genetic disorder with conjunctival involvement as a major feature |
|
|
MONDO:0866508 |
rare genetic disorder with lens opacification |
GARD:22169 |
MONDO:equivalentTo |
Rare genetic disorder with lens opacification |
|
|
MONDO:0866509 |
syndromic genetic cataract |
GARD:22170 |
MONDO:equivalentTo |
Syndromic genetic cataract |
|
|
MONDO:0866510 |
lens size anomaly of genetic origin |
GARD:22171 |
MONDO:equivalentTo |
Lens size anomaly of genetic origin |
|
|
MONDO:0866511 |
lens position anomaly of genetic origin |
GARD:22172 |
MONDO:equivalentTo |
Lens position anomaly of genetic origin |
|
|
MONDO:0866512 |
syndromic genetic ectopia lentis |
GARD:22173 |
MONDO:equivalentTo |
Syndromic genetic ectopia lentis |
|
|
MONDO:0866513 |
rare genetic corneal disorder |
GARD:22174 |
MONDO:equivalentTo |
Rare genetic corneal disorder |
|
|
MONDO:0866514 |
rare genetic disorder with corneal involvement as a major feature |
GARD:22175 |
MONDO:equivalentTo |
Rare genetic disorder with corneal involvement as a major feature |
|
|
MONDO:0866515 |
genetic corneal dystrophy |
GARD:22176 |
MONDO:equivalentTo |
Genetic corneal dystrophy |
|
|
MONDO:0866516 |
genetic superficial corneal dystrophy |
GARD:22177 |
MONDO:equivalentTo |
Genetic superficial corneal dystrophy |
|
|
MONDO:0866517 |
syndromic genetic keratoconus |
GARD:22178 |
MONDO:equivalentTo |
Syndromic genetic keratoconus |
|
|
MONDO:0866518 |
rare genetic inflammatory/autoimmune corneal disorder |
GARD:22179 |
MONDO:equivalentTo |
Rare genetic inflammatory/autoimmune corneal disorder |
|
|
MONDO:0866519 |
rare genetic disorder of the pupil |
GARD:22180 |
MONDO:equivalentTo |
Rare genetic disorder of the pupil |
|
|
MONDO:0866520 |
rare genetic disorder of the posterior segment of the eye |
GARD:22181 |
MONDO:equivalentTo |
Rare genetic disorder of the posterior segment of the eye |
|
|
MONDO:0866521 |
rare genetic retinal disorder |
GARD:22182 |
MONDO:equivalentTo |
Rare genetic retinal disorder |
|
|
MONDO:0866522 |
rare genetic macular disorder |
GARD:22183 |
MONDO:equivalentTo |
Rare genetic macular disorder |
|
|
MONDO:0866523 |
rare genetic retinal vasculopathy |
GARD:22184 |
MONDO:equivalentTo |
Rare genetic retinal vasculopathy |
|
|
MONDO:0866524 |
rare genetic disorder involving multiple structures of the eye |
GARD:22185 |
MONDO:equivalentTo |
Rare genetic disorder involving multiple structures of the eye |
|
|
MONDO:0866525 |
secondary early-onset glaucoma of genetic origin |
GARD:22186 |
MONDO:equivalentTo |
Secondary early-onset glaucoma of genetic origin |
|
|
MONDO:0866526 |
rare genetic choroidal disorder |
GARD:22187 |
MONDO:equivalentTo |
Rare genetic choroidal disorder |
|
|
MONDO:0866527 |
pediatric-onset glaucoma |
GARD:22188 |
MONDO:equivalentTo |
Pediatric-onset glaucoma |
|
|
MONDO:0866528 |
genetic congenital malformation of the eye with glaucoma as a major feature |
GARD:22189 |
MONDO:equivalentTo |
Genetic congenital malformation of the eye with glaucoma as a major feature |
|
|
MONDO:0866529 |
pediatric-onset graves disease |
GARD:22190 |
MONDO:equivalentTo |
Pediatric-onset Graves disease |
|
|
MONDO:0866530 |
prepubertal anorexia nervosa |
GARD:22191 |
MONDO:equivalentTo |
Prepubertal anorexia nervosa |
|
|
MONDO:0866531 |
encephalopathy due to mitochondrial and peroxisomal fission defect |
GARD:22192 |
MONDO:equivalentTo |
Encephalopathy due to mitochondrial and peroxisomal fission defect |
|
|
MONDO:0866532 |
diaphragmatic hernia-short bowel-asplenia syndrome |
GARD:22193 |
MONDO:equivalentTo |
Diaphragmatic hernia-short bowel-asplenia syndrome |
|
|
MONDO:0866533 |
hereditary angioedema with c1inh deficiency |
GARD:22194 |
MONDO:equivalentTo |
Hereditary angioedema with C1Inh deficiency |
|
|
MONDO:0866534 |
hereditary angioedema with normal c1inh |
GARD:22195 |
MONDO:equivalentTo |
Hereditary angioedema with normal C1Inh |
|
|
MONDO:0866535 |
acquired angioedema with c1inh deficiency |
GARD:22196 |
MONDO:equivalentTo |
Acquired angioedema with C1Inh deficiency |
|
|
MONDO:0866536 |
acute bilirubin encephalopathy |
GARD:22197 |
MONDO:equivalentTo |
Acute bilirubin encephalopathy |
|
|
MONDO:0866537 |
chronic bilirubin encephalopathy |
GARD:22198 |
MONDO:equivalentTo |
Chronic bilirubin encephalopathy |
|
|
MONDO:0866538 |
letrozole toxicity |
GARD:22199 |
MONDO:equivalentTo |
Letrozole toxicity |
|
|
MONDO:0866539 |
combined hepatocellular carcinoma and cholangiocarcinoma |
GARD:22200 |
MONDO:equivalentTo |
Combined hepatocellular carcinoma and cholangiocarcinoma |
|
|
MONDO:0866540 |
secondary erythromelalgia |
GARD:22201 |
MONDO:equivalentTo |
Secondary erythromelalgia |
|
|
MONDO:0866541 |
17q24.2 microdeletion syndrome |
GARD:22202 |
MONDO:equivalentTo |
17q24.2 microdeletion syndrome |
|
|
MONDO:0866542 |
immune dysregulation with inflammatory bowel disease |
GARD:22203 |
MONDO:equivalentTo |
Immune dysregulation with inflammatory bowel disease |
|
|
MONDO:0866543 |
immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome |
GARD:22204 |
MONDO:equivalentTo |
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome |
|
|
MONDO:0866544 |
inflammatory bowel disease-recurrent sinopulmonary infections syndrome |
GARD:22205 |
MONDO:equivalentTo |
Inflammatory bowel disease-recurrent sinopulmonary infections syndrome |
|
|
MONDO:0866545 |
dermoid or epidermoid cyst of the central nervous system |
GARD:22206 |
MONDO:equivalentTo |
Dermoid or epidermoid cyst of the central nervous system |
|
|
MONDO:0866546 |
progressive myoclonic epilepsy with neuroserpin inclusion bodies |
GARD:22207 |
MONDO:equivalentTo |
Progressive myoclonic epilepsy with neuroserpin inclusion bodies |
|
|
MONDO:0866547 |
progressive dementia with neuroserpin inclusion bodies |
GARD:22208 |
MONDO:equivalentTo |
Progressive dementia with neuroserpin inclusion bodies |
|
|
MONDO:0866548 |
pik3ca-related overgrowth syndrome |
GARD:22209 |
MONDO:equivalentTo |
PIK3CA-related overgrowth syndrome |
|
|
MONDO:0866549 |
facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome |
GARD:2221 |
MONDO:equivalentTo |
Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome |
|
|
MONDO:0866550 |
rela fusion-positive ependymoma |
GARD:22210 |
MONDO:equivalentTo |
RELA fusion-positive ependymoma |
|
|
MONDO:0866551 |
lamb-shaffer syndrome |
GARD:22211 |
MONDO:equivalentTo |
Lamb-Shaffer syndrome |
|
|
MONDO:0866552 |
9q21.13 microdeletion syndrome |
GARD:22212 |
MONDO:equivalentTo |
9q21.13 microdeletion syndrome |
|
|
MONDO:0866553 |
rasopathy |
GARD:22213 |
MONDO:equivalentTo |
RASopathy |
|
|
MONDO:0866554 |
spondylodysplastic ehlers-danlos syndrome |
GARD:22214 |
MONDO:equivalentTo |
Spondylodysplastic Ehlers-Danlos syndrome |
|
|
MONDO:0866555 |
myopathic ehlers-danlos syndrome |
GARD:22215 |
MONDO:equivalentTo |
Myopathic Ehlers-Danlos syndrome |
|
|
MONDO:0866556 |
kyphoscoliotic ehlers-danlos syndrome due to lysyl hydroxylase 1 deficiency |
GARD:22216 |
MONDO:equivalentTo |
Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency |
|
|
MONDO:0866557 |
plg-related hereditary angioedema with normal c1inh |
GARD:22217 |
MONDO:equivalentTo |
PLG-related hereditary angioedema with normal C1Inh |
|
|
MONDO:0866558 |
congenital axonal neuropathy with encephalopathy |
GARD:22218 |
MONDO:equivalentTo |
Congenital axonal neuropathy with encephalopathy |
|
|
MONDO:0866559 |
neurological channelopathy of the central nervous system due to a genetic chloride channel defect |
GARD:22219 |
MONDO:equivalentTo |
Neurological channelopathy of the central nervous system due to a genetic chloride channel defect |
|
|
MONDO:0866560 |
facial dysmorphism-macrocephaly-myopia-dandy-walker malformation syndrome |
GARD:2222 |
MONDO:equivalentTo |
Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome |
|
|
MONDO:0866561 |
classic pyoderma gangrenosum |
GARD:22220 |
MONDO:equivalentTo |
Classic pyoderma gangrenosum |
|
|
MONDO:0866562 |
pustular pyoderma gangrenosum |
GARD:22221 |
MONDO:equivalentTo |
Pustular pyoderma gangrenosum |
|
|
MONDO:0866563 |
bullous pyoderma gangrenosum |
GARD:22222 |
MONDO:equivalentTo |
Bullous pyoderma gangrenosum |
|
|
MONDO:0866564 |
vegetative pyoderma gangrenosum |
GARD:22223 |
MONDO:equivalentTo |
Vegetative pyoderma gangrenosum |
|
|
MONDO:0866565 |
anomalous aortic origin of the left coronary artery |
GARD:22224 |
MONDO:equivalentTo |
Anomalous aortic origin of the left coronary artery |
|
|
MONDO:0866566 |
anomalous aortic origin of the right coronary artery |
GARD:22225 |
MONDO:equivalentTo |
Anomalous aortic origin of the right coronary artery |
|
|
MONDO:0866567 |
anomalous aortic origin of coronary artery |
GARD:22226 |
MONDO:equivalentTo |
Anomalous aortic origin of coronary artery |
|
|
MONDO:0866568 |
anomalous origin of coronary artery from the pulmonary artery |
GARD:22227 |
MONDO:equivalentTo |
Anomalous origin of coronary artery from the pulmonary artery |
|
|
MONDO:0866569 |
car t cell therapy-associated cytokine release syndrome |
GARD:22228 |
MONDO:equivalentTo |
CAR T cell therapy-associated cytokine release syndrome |
|
|
MONDO:0866570 |
quadricuspid aortic valve |
GARD:22229 |
MONDO:equivalentTo |
Quadricuspid aortic valve |
|
|
MONDO:0866571 |
anomaly of the coronary ostia |
GARD:22230 |
MONDO:equivalentTo |
Anomaly of the coronary ostia |
|
|
MONDO:0866572 |
optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome |
GARD:22231 |
MONDO:equivalentTo |
Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome |
|
|
MONDO:0866573 |
syngap1-related developmental and epileptic encephalopathy |
GARD:22232 |
MONDO:equivalentTo |
SYNGAP1-related developmental and epileptic encephalopathy |
|
|
MONDO:0866574 |
hemolytic uremic syndrome |
GARD:22233 |
MONDO:equivalentTo |
Hemolytic uremic syndrome |
|
|
MONDO:0866575 |
infection-related hemolytic uremic syndrome |
GARD:22234 |
MONDO:equivalentTo |
Infection-related hemolytic uremic syndrome |
|
|
MONDO:0866576 |
streptococcus pneumoniae-associated hemolytic uremic syndrome |
GARD:22235 |
MONDO:equivalentTo |
Streptococcus pneumoniae-associated hemolytic uremic syndrome |
|
|
MONDO:0866577 |
congenital primary megaureter, refluxing and obstructed form |
GARD:22236 |
MONDO:equivalentTo |
Congenital primary megaureter, refluxing and obstructed form |
|
|
MONDO:0866578 |
collagen-related glomerular basement membrane disease |
GARD:22237 |
MONDO:equivalentTo |
Collagen-related glomerular basement membrane disease |
|
|
MONDO:0866579 |
atypical fanconi syndrome-neonatal hyperinsulinism syndrome |
GARD:22238 |
MONDO:equivalentTo |
Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome |
|
|
MONDO:0866580 |
fibrohistiocytic inflammatory pseudotumor of the liver |
GARD:22239 |
MONDO:equivalentTo |
Fibrohistiocytic inflammatory pseudotumor of the liver |
|
|
MONDO:0866581 |
lymphoplasmacytic inflammatory pseudotumor of the liver |
GARD:22240 |
MONDO:equivalentTo |
Lymphoplasmacytic inflammatory pseudotumor of the liver |
|
|
MONDO:0866582 |
congenital tricuspid valve dysplasia |
GARD:22241 |
MONDO:equivalentTo |
Congenital tricuspid valve dysplasia |
|
|
MONDO:0866583 |
iga pemphigus |
GARD:22242 |
MONDO:equivalentTo |
IgA pemphigus |
|
|
MONDO:0866584 |
early-onset familial hypoaldosteronism |
GARD:22243 |
MONDO:equivalentTo |
Early-onset familial hypoaldosteronism |
|
|
MONDO:0866585 |
late-onset familial hypoaldosteronism |
GARD:22244 |
MONDO:equivalentTo |
Late-onset familial hypoaldosteronism |
|
|
MONDO:0866586 |
rare disorder due to poisoning |
GARD:22245 |
MONDO:equivalentTo |
Rare disorder due to poisoning |
|
|
MONDO:0866587 |
early-onset calcifying leukoencephalopathy-skeletal dysplasia |
GARD:22246 |
MONDO:equivalentTo |
Early-onset calcifying leukoencephalopathy-skeletal dysplasia |
|
|
MONDO:0866588 |
spastic ataxia-dysarthria due to glutaminase deficiency |
GARD:22247 |
MONDO:equivalentTo |
Spastic ataxia-dysarthria due to glutaminase deficiency |
|
|
MONDO:0866589 |
rare disorder with hirschsprung disease as a major feature |
GARD:22248 |
MONDO:equivalentTo |
Rare disorder with Hirschsprung disease as a major feature |
|
|
MONDO:0866590 |
idiopathic gastroparesis |
GARD:22249 |
MONDO:equivalentTo |
Idiopathic gastroparesis |
|
|
MONDO:0866591 |
primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome |
GARD:22250 |
MONDO:equivalentTo |
Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome |
|
|
MONDO:0866592 |
autoimmune hepatitis type 1 |
GARD:22251 |
MONDO:equivalentTo |
Autoimmune hepatitis type 1 |
|
|
MONDO:0866593 |
autoimmune hepatitis type 2 |
GARD:22252 |
MONDO:equivalentTo |
Autoimmune hepatitis type 2 |
|
|
MONDO:0866594 |
seronegative autoimmune hepatitis |
GARD:22253 |
MONDO:equivalentTo |
Seronegative autoimmune hepatitis |
|
|
MONDO:0866595 |
isolated anencephaly |
GARD:22254 |
MONDO:equivalentTo |
Isolated anencephaly |
|
|
MONDO:0866596 |
isolated exencephaly |
GARD:22255 |
MONDO:equivalentTo |
Isolated exencephaly |
|
|
MONDO:0866597 |
serous cystadenoma of childhood |
GARD:22256 |
MONDO:equivalentTo |
Serous cystadenoma of childhood |
|
|
MONDO:0866598 |
mucinous cystadenoma of childhood |
GARD:22257 |
MONDO:equivalentTo |
Mucinous cystadenoma of childhood |
|
|
MONDO:0866599 |
seromucinous cystadenoma of childhood |
GARD:22258 |
MONDO:equivalentTo |
Seromucinous cystadenoma of childhood |
|
|
MONDO:0866600 |
furuncular myiasis due to dermatobia hominis |
GARD:22259 |
MONDO:equivalentTo |
Furuncular myiasis due to Dermatobia hominis |
|
|
MONDO:0866601 |
furuncular myiasis due to cordylobia anthropophaga |
GARD:22260 |
MONDO:equivalentTo |
Furuncular myiasis due to Cordylobia anthropophaga |
|
|
MONDO:0866602 |
furuncular myiasis due to cordylobia rodhaini |
GARD:22261 |
MONDO:equivalentTo |
Furuncular myiasis due to Cordylobia rodhaini |
|
|
MONDO:0866603 |
syndromic congenital sodium diarrhea |
GARD:22262 |
MONDO:equivalentTo |
Syndromic congenital sodium diarrhea |
|
|
MONDO:0866604 |
isolated congenital aglossia |
GARD:22263 |
MONDO:equivalentTo |
Isolated congenital aglossia |
|
|
MONDO:0866605 |
isolated congenital hypoglossia |
GARD:22264 |
MONDO:equivalentTo |
Isolated congenital hypoglossia |
|
|
MONDO:0866606 |
genetic nephrotic syndrome |
GARD:22265 |
MONDO:equivalentTo |
Genetic nephrotic syndrome |
|
|
MONDO:0866607 |
primary hypomagnesemia-refractory seizures-intellectual disability syndrome |
GARD:22266 |
MONDO:equivalentTo |
Primary hypomagnesemia-refractory seizures-intellectual disability syndrome |
|
|
MONDO:0866608 |
triglyceride deposit cardiomyovasculopathy |
GARD:22267 |
MONDO:equivalentTo |
Triglyceride deposit cardiomyovasculopathy |
|
|
MONDO:0866609 |
primary desmosis coli |
GARD:22268 |
MONDO:equivalentTo |
Primary desmosis coli |
|
|
MONDO:0866610 |
methotrexate toxicity |
GARD:22269 |
MONDO:equivalentTo |
Methotrexate toxicity |
|
|
MONDO:0866611 |
laminin subunit alpha 2-related limb-girdle muscular dystrophy r23 |
GARD:22270 |
MONDO:equivalentTo |
Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 |
|
|
MONDO:0866612 |
pomgnt2-related limb-girdle muscular dystrophy r24 |
GARD:22271 |
MONDO:equivalentTo |
POMGNT2-related limb-girdle muscular dystrophy R24 |
|
|
MONDO:0866613 |
calpain-3-related limb-girdle muscular dystrophy d4 |
GARD:22272 |
MONDO:equivalentTo |
Calpain-3-related limb-girdle muscular dystrophy D4 |
|
|
MONDO:0866614 |
cebpe-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome |
GARD:22273 |
MONDO:equivalentTo |
CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome |
|
|
MONDO:0866615 |
congenital autosomal recessive small-platelet thrombocytopenia |
GARD:22274 |
MONDO:equivalentTo |
Congenital autosomal recessive small-platelet thrombocytopenia |
|
|
MONDO:0866616 |
resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha |
GARD:22275 |
MONDO:equivalentTo |
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha |
|
|
MONDO:0866617 |
acute mast cell leukemia |
GARD:22276 |
MONDO:equivalentTo |
Acute mast cell leukemia |
|
|
MONDO:0866618 |
chronic mast cell leukemia |
GARD:22277 |
MONDO:equivalentTo |
Chronic mast cell leukemia |
|
|
MONDO:0866619 |
liver adenomatosis |
GARD:22278 |
MONDO:equivalentTo |
Liver adenomatosis |
|
|
MONDO:0866620 |
aprosencephaly/atelencephaly spectrum |
GARD:22279 |
MONDO:equivalentTo |
Aprosencephaly/atelencephaly spectrum |
|
|
MONDO:0866621 |
atelencephaly |
GARD:22280 |
MONDO:equivalentTo |
Atelencephaly |
|
|
MONDO:0866622 |
aprosencephaly |
GARD:22281 |
MONDO:equivalentTo |
Aprosencephaly |
|
|
MONDO:0866623 |
left sided atrial isomerism |
GARD:22282 |
MONDO:equivalentTo |
Left sided atrial isomerism |
|
|
MONDO:0866624 |
mueller-weiss syndrome |
GARD:22283 |
MONDO:equivalentTo |
Mueller-Weiss syndrome |
|
|
MONDO:0866625 |
b-cell immunodeficiency-limb anomaly-urogenital malformation syndrome |
GARD:22284 |
MONDO:equivalentTo |
B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome |
|
|
MONDO:0866626 |
idiopathic non-lupus full-house nephropathy |
GARD:22285 |
MONDO:equivalentTo |
Idiopathic non-lupus full-house nephropathy |
|
|
MONDO:0866627 |
idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance |
GARD:22286 |
MONDO:equivalentTo |
Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance |
|
|
MONDO:0866628 |
idiopathic multidrug-resistant nephrotic syndrome |
GARD:22287 |
MONDO:equivalentTo |
Idiopathic multidrug-resistant nephrotic syndrome |
|
|
MONDO:0866629 |
idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy |
GARD:22288 |
MONDO:equivalentTo |
Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy |
|
|
MONDO:0866630 |
systemic disease with glomerulopathy as a major feature |
GARD:22289 |
MONDO:equivalentTo |
Systemic disease with glomerulopathy as a major feature |
|
|
MONDO:0866631 |
lethal faciocardiomelic dysplasia |
GARD:2229 |
MONDO:equivalentTo |
Lethal faciocardiomelic dysplasia |
|
|
MONDO:0866632 |
genetic systemic disease with glomerulopathy as a major feature |
GARD:22290 |
MONDO:equivalentTo |
Genetic systemic disease with glomerulopathy as a major feature |
|
|
MONDO:0866633 |
non-genetic systemic disease with glomerulopathy as a major feature |
GARD:22291 |
MONDO:equivalentTo |
Non-genetic systemic disease with glomerulopathy as a major feature |
|
|
MONDO:0866634 |
systemic vasculitis associated with glomerulopathy |
GARD:22292 |
MONDO:equivalentTo |
Systemic vasculitis associated with glomerulopathy |
|
|
MONDO:0866635 |
disorder with multisystemic involvement and glomerulopathy |
GARD:22293 |
MONDO:equivalentTo |
Disorder with multisystemic involvement and glomerulopathy |
|
|
MONDO:0866636 |
nephrotic syndrome without extrarenal manifestations |
GARD:22294 |
MONDO:equivalentTo |
Nephrotic syndrome without extrarenal manifestations |
|
|
MONDO:0866637 |
parenteral nutrition-associated cholestasis |
GARD:22295 |
MONDO:equivalentTo |
Parenteral nutrition-associated cholestasis |
|
|
MONDO:0866638 |
primary lymphedema without systemic or visceral involvement |
GARD:22296 |
MONDO:equivalentTo |
Primary lymphedema without systemic or visceral involvement |
|
|
MONDO:0866639 |
primary lymphedema with systemic or visceral involvement |
GARD:22297 |
MONDO:equivalentTo |
Primary lymphedema with systemic or visceral involvement |
|
|
MONDO:0866640 |
disorder with multisystemic involvement and primary lymphedema |
GARD:22298 |
MONDO:equivalentTo |
Disorder with multisystemic involvement and primary lymphedema |
|
|
MONDO:0866641 |
gjc2-related late-onset primary lymphedema |
GARD:22299 |
MONDO:equivalentTo |
GJC2-related late-onset primary lymphedema |
|
|
MONDO:0866642 |
vestibular schwannoma |
GARD:223 |
MONDO:equivalentTo |
Vestibular schwannoma |
|
|
MONDO:0866643 |
faciocardiorenal syndrome |
GARD:2230 |
MONDO:equivalentTo |
Faciocardiorenal syndrome |
|
|
MONDO:0866644 |
warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome |
GARD:22300 |
MONDO:equivalentTo |
Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome |
|
|
MONDO:0866645 |
piezo1-related generalized lymphatic dysplasia with non-immune hydrops fetalis |
GARD:22301 |
MONDO:equivalentTo |
PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis |
|
|
MONDO:0866646 |
ephb4-related lymphatic-related hydrops fetalis |
GARD:22302 |
MONDO:equivalentTo |
EPHB4-related lymphatic-related hydrops fetalis |
|
|
MONDO:0866647 |
angiomatoid fibrous histiocytoma |
GARD:22303 |
MONDO:equivalentTo |
Angiomatoid fibrous histiocytoma |
|
|
MONDO:0866648 |
microcystic stromal tumor |
GARD:22304 |
MONDO:equivalentTo |
Microcystic stromal tumor |
|
|
MONDO:0866649 |
multiple mitochondrial dysfunctions syndrome type 5 |
GARD:22305 |
MONDO:equivalentTo |
Multiple mitochondrial dysfunctions syndrome type 5 |
|
|
MONDO:0866650 |
celsr1-related late-onset primary lymphedema |
GARD:22306 |
MONDO:equivalentTo |
CELSR1-related late-onset primary lymphedema |
|
|
MONDO:0866651 |
congenital primary lymphedema of gordon |
GARD:22307 |
MONDO:equivalentTo |
Congenital primary lymphedema of Gordon |
|
|
MONDO:0866652 |
bartter syndrome type 5 |
GARD:22308 |
MONDO:equivalentTo |
Bartter syndrome type 5 |
|
|
MONDO:0866653 |
idiopathic multicentric castleman disease |
GARD:22309 |
MONDO:equivalentTo |
Idiopathic multicentric Castleman disease |
|
|
MONDO:0866654 |
hhv-8-associated multicentric castleman disease |
GARD:22310 |
MONDO:equivalentTo |
HHV-8-associated multicentric Castleman disease |
|
|
MONDO:0866655 |
ricin poisoning |
GARD:22311 |
MONDO:equivalentTo |
Ricin poisoning |
|
|
MONDO:0866656 |
blepharophimosis-ptosis-epicanthus inversus syndrome plus |
GARD:22312 |
MONDO:equivalentTo |
Blepharophimosis-ptosis-epicanthus inversus syndrome plus |
|
|
MONDO:0866657 |
infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia |
GARD:22313 |
MONDO:equivalentTo |
Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia |
|
|
MONDO:0866658 |
donson-related microcephaly-short stature-limb abnormalities spectrum |
GARD:22314 |
MONDO:equivalentTo |
DONSON-related microcephaly-short stature-limb abnormalities spectrum |
|
|
MONDO:0866659 |
pheochromocytoma-paraganglioma |
GARD:22315 |
MONDO:equivalentTo |
Pheochromocytoma-paraganglioma |
|
|
MONDO:0866660 |
split cord malformation type ii |
GARD:22316 |
MONDO:equivalentTo |
Split cord malformation type II |
|
|
MONDO:0866661 |
split cord malformation |
GARD:22317 |
MONDO:equivalentTo |
Split cord malformation |
|
|
MONDO:0866662 |
predisposition to severe viral infection due to irf7 deficiency |
GARD:22318 |
MONDO:equivalentTo |
Predisposition to severe viral infection due to IRF7 deficiency |
|
|
MONDO:0866663 |
autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency |
GARD:22319 |
MONDO:equivalentTo |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency |
|
|
MONDO:0866664 |
cathepsin a-related arteriopathy-strokes-leukoencephalopathy |
GARD:22320 |
MONDO:equivalentTo |
Cathepsin A-related arteriopathy-strokes-leukoencephalopathy |
|
|
MONDO:0866665 |
middle east respiratory syndrome |
GARD:22321 |
MONDO:equivalentTo |
Middle East respiratory syndrome |
|
|
MONDO:0866666 |
complete atrioventricular septal defect without ventricular hypoplasia |
GARD:22322 |
MONDO:equivalentTo |
Complete atrioventricular septal defect without ventricular hypoplasia |
|
|
MONDO:0866667 |
partial atrioventricular septal defect with ventricular hypoplasia |
GARD:22323 |
MONDO:equivalentTo |
Partial atrioventricular septal defect with ventricular hypoplasia |
|
|
MONDO:0866668 |
partial atrioventricular septal defect without ventricular hypoplasia |
GARD:22324 |
MONDO:equivalentTo |
Partial atrioventricular septal defect without ventricular hypoplasia |
|
|
MONDO:0866669 |
intermediate atrioventricular septal defect |
GARD:22325 |
MONDO:equivalentTo |
Intermediate atrioventricular septal defect |
|
|
MONDO:0866670 |
satb2-associated syndrome |
GARD:22326 |
MONDO:equivalentTo |
SATB2-associated syndrome |
|
|
MONDO:0866671 |
sporadic human prion disease |
GARD:22327 |
MONDO:equivalentTo |
Sporadic human prion disease |
|
|
MONDO:0866672 |
acquired human prion disease |
GARD:22328 |
MONDO:equivalentTo |
Acquired human prion disease |
|
|
MONDO:0866673 |
iatrogenic creutzfeldt-jakob disease |
GARD:22329 |
MONDO:equivalentTo |
Iatrogenic Creutzfeldt-Jakob disease |
|
|
MONDO:0866674 |
genetic hemolytic uremic syndrome |
GARD:22330 |
MONDO:equivalentTo |
Genetic hemolytic uremic syndrome |
|
|
MONDO:0866675 |
intraductal tubulopapillary neoplasm of pancreas |
GARD:22331 |
MONDO:equivalentTo |
Intraductal tubulopapillary neoplasm of pancreas |
|
|
MONDO:0866676 |
lethal brain and heart developmental defects |
GARD:22332 |
MONDO:equivalentTo |
Lethal brain and heart developmental defects |
|
|
MONDO:0866677 |
congenital infiltrating lipomatosis of the face |
GARD:22333 |
MONDO:equivalentTo |
Congenital infiltrating lipomatosis of the face |
|
|
MONDO:0866678 |
serine biosynthesis pathway deficiency, infantile/juvenile form |
GARD:22334 |
MONDO:equivalentTo |
Serine biosynthesis pathway deficiency, infantile/juvenile form |
|
|
MONDO:0866679 |
neu-laxova syndrome due to phosphoserine aminotransferase deficiency |
GARD:22335 |
MONDO:equivalentTo |
Neu-laxova syndrome due to phosphoserine aminotransferase deficiency |
|
|
MONDO:0866680 |
neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency |
GARD:22336 |
MONDO:equivalentTo |
Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency |
|
|
MONDO:0866681 |
neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency |
GARD:22337 |
MONDO:equivalentTo |
Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency |
|
|
MONDO:0866682 |
isolated splenic vein thrombosis |
GARD:22338 |
MONDO:equivalentTo |
Isolated splenic vein thrombosis |
|
|
MONDO:0866683 |
isolated mesenteric vein thrombosis |
GARD:22339 |
MONDO:equivalentTo |
Isolated mesenteric vein thrombosis |
|
|
MONDO:0866684 |
acute myeloid leukemia with t(9;22)(q34.1;q11.2) |
GARD:22340 |
MONDO:equivalentTo |
Acute myeloid leukemia with t(9;22)(q34.1;q11.2) |
|
|
MONDO:0866685 |
b-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality |
GARD:22341 |
MONDO:equivalentTo |
B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality |
|
|
MONDO:0866686 |
b-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) |
GARD:22342 |
MONDO:equivalentTo |
B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) |
|
|
MONDO:0866687 |
b-lymphoblastic leukemia/lymphoma with t(v;11q23.3) |
GARD:22343 |
MONDO:equivalentTo |
B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) |
|
|
MONDO:0866688 |
b-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) |
GARD:22344 |
MONDO:equivalentTo |
B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) |
|
|
MONDO:0866689 |
b-lymphoblastic leukemia/lymphoma with hyperdiploidy |
GARD:22345 |
MONDO:equivalentTo |
B-lymphoblastic leukemia/lymphoma with hyperdiploidy |
|
|
MONDO:0866690 |
b-lymphoblastic leukemia/lymphoma with hypodiploidy |
GARD:22346 |
MONDO:equivalentTo |
B-lymphoblastic leukemia/lymphoma with hypodiploidy |
|
|
MONDO:0866691 |
b-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) |
GARD:22347 |
MONDO:equivalentTo |
B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) |
|
|
MONDO:0866692 |
b-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) |
GARD:22348 |
MONDO:equivalentTo |
B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) |
|
|
MONDO:0866693 |
sporadic fatal insomnia |
GARD:22349 |
MONDO:equivalentTo |
Sporadic fatal insomnia |
|
|
MONDO:0866694 |
short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome |
GARD:22350 |
MONDO:equivalentTo |
Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome |
|
|
MONDO:0866695 |
pum1-associated developmental disability-ataxia-seizure syndrome |
GARD:22351 |
MONDO:equivalentTo |
PUM1-associated developmental disability-ataxia-seizure syndrome |
|
|
MONDO:0866696 |
spinocerebellar ataxia type 46 |
GARD:22352 |
MONDO:equivalentTo |
Spinocerebellar ataxia type 46 |
|
|
MONDO:0866697 |
spinocerebellar ataxia type 45 |
GARD:22353 |
MONDO:equivalentTo |
Spinocerebellar ataxia type 45 |
|
|
MONDO:0866698 |
mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) |
GARD:22354 |
MONDO:equivalentTo |
Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) |
|
|
MONDO:0866699 |
myeloid/lymphoid neoplasm associated with jak2 rearrangement |
GARD:22355 |
MONDO:equivalentTo |
Myeloid/lymphoid neoplasm associated with JAK2 rearrangement |
|
|
MONDO:0866700 |
grin2b-related developmental delay, intellectual disability and autism spectrum disorder |
GARD:22356 |
MONDO:equivalentTo |
GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder |
|
|
MONDO:0866701 |
mixed phenotype acute leukemia with t(v;11q23.3) |
GARD:22357 |
MONDO:equivalentTo |
Mixed phenotype acute leukemia with t(v;11q23.3) |
|
|
MONDO:0866702 |
linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies |
GARD:22358 |
MONDO:equivalentTo |
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies |
|
|
MONDO:0866703 |
dystonia 28 |
GARD:22359 |
MONDO:equivalentTo |
Dystonia 28 |
|
|
MONDO:0866704 |
inherited gynecological cancer-predisposing syndrome |
GARD:22360 |
MONDO:equivalentTo |
Inherited gynecological cancer-predisposing syndrome |
|
|
MONDO:0866705 |
congenital-onset steinert myotonic dystrophy |
GARD:22361 |
MONDO:equivalentTo |
Congenital-onset Steinert myotonic dystrophy |
|
|
MONDO:0866706 |
childhood-onset steinert myotonic dystrophy |
GARD:22362 |
MONDO:equivalentTo |
Childhood-onset Steinert myotonic dystrophy |
|
|
MONDO:0866707 |
juvenile-onset steinert myotonic dystrophy |
GARD:22363 |
MONDO:equivalentTo |
Juvenile-onset Steinert myotonic dystrophy |
|
|
MONDO:0866708 |
adult-onset steinert myotonic dystrophy |
GARD:22364 |
MONDO:equivalentTo |
Adult-onset Steinert myotonic dystrophy |
|
|
MONDO:0866709 |
late-onset steinert myotonic dystrophy |
GARD:22365 |
MONDO:equivalentTo |
Late-onset Steinert myotonic dystrophy |
|
|
MONDO:0866710 |
choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome |
GARD:22366 |
MONDO:equivalentTo |
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome |
|
|
MONDO:0866711 |
phip-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome |
GARD:22367 |
MONDO:equivalentTo |
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome |
|
|
MONDO:0866712 |
isolated melanotic schwannoma |
GARD:22368 |
MONDO:equivalentTo |
Isolated melanotic schwannoma |
|
|
MONDO:0866713 |
gnao1-related developmental delay-seizures-movement disorder spectrum |
GARD:22369 |
MONDO:equivalentTo |
GNAO1-related developmental delay-seizures-movement disorder spectrum |
|
|
MONDO:0866714 |
congenital factor v deficiency |
GARD:2237 |
MONDO:equivalentTo |
Congenital factor V deficiency |
|
|
MONDO:0866715 |
traf7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome |
GARD:22370 |
MONDO:equivalentTo |
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome |
|
|
MONDO:0866716 |
menke-hennekam syndrome |
GARD:22371 |
MONDO:equivalentTo |
Menke-Hennekam syndrome |
|
|
MONDO:0866717 |
neuromyelitis optica spectrum disorder with anti-aqp4 antibodies |
GARD:22372 |
MONDO:equivalentTo |
Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies |
|
|
MONDO:0866718 |
neuromyelitis optica spectrum disorder with anti-mog antibodies |
GARD:22373 |
MONDO:equivalentTo |
Neuromyelitis optica spectrum disorder with anti-MOG antibodies |
|
|
MONDO:0866719 |
neuromyelitis optica spectrum disorder without anti-mog and without anti-aqp4 antibodies |
GARD:22374 |
MONDO:equivalentTo |
Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies |
|
|
MONDO:0866720 |
acute transverse myelitis with anti-mog antibodies |
GARD:22375 |
MONDO:equivalentTo |
Acute transverse myelitis with anti-MOG antibodies |
|
|
MONDO:0866721 |
isolated optic neuritis without anti-mog antibodies |
GARD:22376 |
MONDO:equivalentTo |
Isolated optic neuritis without anti-MOG antibodies |
|
|
MONDO:0866722 |
isolated optic neuritis with anti-mog antibodies |
GARD:22377 |
MONDO:equivalentTo |
Isolated optic neuritis with anti-MOG antibodies |
|
|
MONDO:0866723 |
acute disseminated encephalomyelitis with anti-mog antibodies |
GARD:22378 |
MONDO:equivalentTo |
Acute disseminated encephalomyelitis with anti-MOG antibodies |
|
|
MONDO:0866724 |
acute disseminated encephalomyelitis without anti-mog antibodies |
GARD:22379 |
MONDO:equivalentTo |
Acute disseminated encephalomyelitis without anti-MOG antibodies |
|
|
MONDO:0866725 |
congenital factor vii deficiency |
GARD:2238 |
MONDO:equivalentTo |
Congenital factor VII deficiency |
|
|
MONDO:0866726 |
timothy syndrome type 1 |
GARD:22380 |
MONDO:equivalentTo |
Timothy syndrome type 1 |
|
|
MONDO:0866727 |
timothy syndrome type 2 |
GARD:22381 |
MONDO:equivalentTo |
Timothy syndrome type 2 |
|
|
MONDO:0866728 |
atypical timothy syndrome |
GARD:22382 |
MONDO:equivalentTo |
Atypical Timothy syndrome |
|
|
MONDO:0866729 |
perivascular epithelioid cell neoplasm |
GARD:22383 |
MONDO:equivalentTo |
Perivascular epithelioid cell neoplasm |
|
|
MONDO:0866730 |
fibrous dysplasia/mccune-albright syndrome |
GARD:22384 |
MONDO:equivalentTo |
Fibrous dysplasia/McCune-Albright syndrome |
|
|
MONDO:0866731 |
adrenal hypoplasia congenita |
GARD:22385 |
MONDO:equivalentTo |
Adrenal hypoplasia congenita |
|
|
MONDO:0866732 |
epidermolysis bullosa simplex without extracutaneous involvement |
GARD:22386 |
MONDO:equivalentTo |
Epidermolysis bullosa simplex without extracutaneous involvement |
|
|
MONDO:0866733 |
epidermolysis bullosa simplex with extracutaneous involvement |
GARD:22387 |
MONDO:equivalentTo |
Epidermolysis bullosa simplex with extracutaneous involvement |
|
|
MONDO:0866734 |
localized dystrophic epidermolysis bullosa |
GARD:22388 |
MONDO:equivalentTo |
Localized dystrophic epidermolysis bullosa |
|
|
MONDO:0866735 |
antley-bixler syndrome without genital anomaly or disorder of steroidogenesis |
GARD:22389 |
MONDO:equivalentTo |
Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis |
|
|
MONDO:0866736 |
syndrome of reduced sensitivity to thyroid hormone |
GARD:22390 |
MONDO:equivalentTo |
Syndrome of reduced sensitivity to thyroid hormone |
|
|
MONDO:0866737 |
igg4-related systemic disease |
GARD:22391 |
MONDO:equivalentTo |
IgG4-related systemic disease |
|
|
MONDO:0866738 |
combined immunodeficiency due to rela haploinsufficiency |
GARD:22392 |
MONDO:equivalentTo |
Combined immunodeficiency due to RELA haploinsufficiency |
|
|
MONDO:0866739 |
portosinusoidal vascular disease |
GARD:22393 |
MONDO:equivalentTo |
Portosinusoidal vascular disease |
|
|
MONDO:0866740 |
incomplete septal cirrhosis |
GARD:22394 |
MONDO:equivalentTo |
Incomplete septal cirrhosis |
|
|
MONDO:0866741 |
trim22-related inflammatory bowel disease |
GARD:22395 |
MONDO:equivalentTo |
TRIM22-related inflammatory bowel disease |
|
|
MONDO:0866742 |
irf2bpl-related regressive neurodevelopmental disorder-dystonia-seizures syndrome |
GARD:22396 |
MONDO:equivalentTo |
IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome |
|
|
MONDO:0866743 |
setd2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome |
GARD:22397 |
MONDO:equivalentTo |
SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome |
|
|
MONDO:0866744 |
blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome |
GARD:22398 |
MONDO:equivalentTo |
Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome |
|
|
MONDO:0866745 |
kat6b-related multiple congenital anomalies syndrome |
GARD:22399 |
MONDO:equivalentTo |
KAT6B-related multiple congenital anomalies syndrome |
|
|
MONDO:0866746 |
radio-renal syndrome |
GARD:224 |
MONDO:equivalentTo |
Radio-renal syndrome |
|
|
MONDO:0866747 |
alpi-related inflammatory bowel disease |
GARD:22400 |
MONDO:equivalentTo |
ALPI-related inflammatory bowel disease |
|
|
MONDO:0866748 |
euthyroid dysprealbuminemic hyperthyroxinemia |
GARD:22401 |
MONDO:equivalentTo |
Euthyroid dysprealbuminemic hyperthyroxinemia |
|
|
MONDO:0866749 |
foxg1 syndrome due to intragenic alteration |
GARD:22402 |
MONDO:equivalentTo |
FOXG1 syndrome due to intragenic alteration |
|
|
MONDO:0866750 |
multisystem inflammatory syndrome in children and adults |
GARD:22403 |
MONDO:equivalentTo |
Multisystem inflammatory syndrome in children and adults |
|
|
MONDO:0866751 |
stxbp1-related encephalopathy |
GARD:22404 |
MONDO:equivalentTo |
STXBP1-related encephalopathy |
|
|
MONDO:0866752 |
hypomyelination of early myelinating structures |
GARD:22405 |
MONDO:equivalentTo |
Hypomyelination of early myelinating structures |
|
|
MONDO:0866753 |
hereditary angioedema with normal c1inh not related to f12 or plg variant |
GARD:22406 |
MONDO:equivalentTo |
Hereditary angioedema with normal C1Inh not related to F12 or PLG variant |
|
|
MONDO:0866754 |
acquired hemophilia b |
GARD:22407 |
MONDO:equivalentTo |
Acquired hemophilia B |
|
|
MONDO:0866755 |
acquired factor v deficiency |
GARD:22408 |
MONDO:equivalentTo |
Acquired factor V deficiency |
|
|
MONDO:0866756 |
acquired factor vii deficiency |
GARD:22409 |
MONDO:equivalentTo |
Acquired factor VII deficiency |
|
|
MONDO:0866757 |
acquired factor x deficiency |
GARD:22410 |
MONDO:equivalentTo |
Acquired factor X deficiency |
|
|
MONDO:0866758 |
acquired factor xi deficiency |
GARD:22411 |
MONDO:equivalentTo |
Acquired factor XI deficiency |
|
|
MONDO:0866759 |
acquired factor xiii deficiency |
GARD:22412 |
MONDO:equivalentTo |
Acquired factor XIII deficiency |
|
|
MONDO:0866760 |
factor v short isoforms-related bleeding disorder |
GARD:22413 |
MONDO:equivalentTo |
Factor V short isoforms-related bleeding disorder |
|
|
MONDO:0866761 |
factor v amsterdam bleeding disorder |
GARD:22414 |
MONDO:equivalentTo |
Factor V Amsterdam bleeding disorder |
|
|
MONDO:0866762 |
factor v atlanta bleeding disorder |
GARD:22415 |
MONDO:equivalentTo |
Factor V Atlanta bleeding disorder |
|
|
MONDO:0866763 |
nrxn1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance |
GARD:22416 |
MONDO:equivalentTo |
NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance |
|
|
MONDO:0866764 |
ccnk-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome |
GARD:22417 |
MONDO:equivalentTo |
CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome |
|
|
MONDO:0866765 |
combined deficiency of factor vii and factor x |
GARD:22418 |
MONDO:equivalentTo |
Combined deficiency of factor VII and factor X |
|
|
MONDO:0866766 |
legionellosis |
GARD:22419 |
MONDO:equivalentTo |
Legionellosis |
|
|
MONDO:0866767 |
non-syndromic anorectal malformation with perineal fistula |
GARD:22420 |
MONDO:equivalentTo |
Non-syndromic anorectal malformation with perineal fistula |
|
|
MONDO:0866768 |
non-syndromic anorectal malformation with rectourethral fistula |
GARD:22421 |
MONDO:equivalentTo |
Non-syndromic anorectal malformation with rectourethral fistula |
|
|
MONDO:0866769 |
non-syndromic anorectal malformation with rectourethral fistula, bulbar type |
GARD:22422 |
MONDO:equivalentTo |
Non-syndromic anorectal malformation with rectourethral fistula, bulbar type |
|
|
MONDO:0866770 |
non-syndromic anorectal malformation with rectourethral fistula, prostatic type |
GARD:22423 |
MONDO:equivalentTo |
Non-syndromic anorectal malformation with rectourethral fistula, prostatic type |
|
|
MONDO:0866771 |
non-syndromic anorectal malformation with rectovesical fistula |
GARD:22424 |
MONDO:equivalentTo |
Non-syndromic anorectal malformation with rectovesical fistula |
|
|
MONDO:0866772 |
non-syndromic anorectal malformation with vestibular fistula |
GARD:22425 |
MONDO:equivalentTo |
Non-syndromic anorectal malformation with vestibular fistula |
|
|
MONDO:0866773 |
non-syndromic cloacal malformation |
GARD:22426 |
MONDO:equivalentTo |
Non-syndromic cloacal malformation |
|
|
MONDO:0866774 |
non-syndromic anorectal malformation without fistula |
GARD:22427 |
MONDO:equivalentTo |
Non-syndromic anorectal malformation without fistula |
|
|
MONDO:0866775 |
non-syndromic anorectal malformation with anal stenosis |
GARD:22428 |
MONDO:equivalentTo |
Non-syndromic anorectal malformation with anal stenosis |
|
|
MONDO:0866776 |
non-syndromic anorectal malformation with pouch colon |
GARD:22429 |
MONDO:equivalentTo |
Non-syndromic anorectal malformation with pouch colon |
|
|
MONDO:0866777 |
non-syndromic anorectal malformation with rectal atresia |
GARD:22430 |
MONDO:equivalentTo |
Non-syndromic anorectal malformation with rectal atresia |
|
|
MONDO:0866778 |
non-syndromic anorectal malformation with rectal stenosis |
GARD:22431 |
MONDO:equivalentTo |
Non-syndromic anorectal malformation with rectal stenosis |
|
|
MONDO:0866779 |
non-syndromic anorectal malformation with rectovaginal fistula |
GARD:22432 |
MONDO:equivalentTo |
Non-syndromic anorectal malformation with rectovaginal fistula |
|
|
MONDO:0866780 |
non-syndromic anorectal malformation with h-type fistula |
GARD:22433 |
MONDO:equivalentTo |
Non-syndromic anorectal malformation with H-type fistula |
|
|
MONDO:0866781 |
isolated female hypospadias |
GARD:22434 |
MONDO:equivalentTo |
Isolated female hypospadias |
|
|
MONDO:0866782 |
klhl7-related bohring-opitz-like/cold-induced sweating-like overlap syndrome |
GARD:22435 |
MONDO:equivalentTo |
KLHL7-related Bohring-Opitz-like/Cold-induced sweating-like overlap syndrome |
|
|
MONDO:0866783 |
klhl7-related bohring-opitz-like syndrome |
GARD:22436 |
MONDO:equivalentTo |
KLHL7-related Bohring-Opitz-like syndrome |
|
|
MONDO:0866784 |
klhl7-related cold-induced sweating-like syndrome |
GARD:22437 |
MONDO:equivalentTo |
KLHL7-related cold-induced sweating-like syndrome |
|
|
MONDO:0866785 |
klhl7-related disorder |
GARD:22438 |
MONDO:equivalentTo |
KLHL7-related disorder |
|
|
MONDO:0866786 |
symptomatic form of x-linked centronuclear myopathy in female carriers |
GARD:22439 |
MONDO:equivalentTo |
Symptomatic form of X-linked centronuclear myopathy in female carriers |
|
|
MONDO:0866787 |
rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome |
GARD:22440 |
MONDO:equivalentTo |
Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome |
|
|
MONDO:0866788 |
genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability |
GARD:22441 |
MONDO:equivalentTo |
Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability |
|
|
MONDO:0866789 |
granuloma faciale |
GARD:22442 |
MONDO:equivalentTo |
Granuloma faciale |
|
|
MONDO:0866790 |
chronic intervillositis of unknown etiology |
GARD:22443 |
MONDO:equivalentTo |
Chronic intervillositis of unknown etiology |
|
|
MONDO:0866791 |
rare disorder without a determined diagnosis after full investigation |
GARD:22444 |
MONDO:equivalentTo |
Rare disorder without a determined diagnosis after full investigation |
|
|
MONDO:0866792 |
twin anemia-polycythemia sequence |
GARD:22445 |
MONDO:equivalentTo |
Twin anemia-polycythemia sequence |
|
|
MONDO:0866793 |
twin-reversed arterial perfusion sequence |
GARD:22446 |
MONDO:equivalentTo |
Twin-reversed arterial perfusion sequence |
|
|
MONDO:0866794 |
selective intrauterine growth restriction |
GARD:22447 |
MONDO:equivalentTo |
Selective intrauterine growth restriction |
|
|
MONDO:0866795 |
amniotic fluid embolism |
GARD:22448 |
MONDO:equivalentTo |
Amniotic fluid embolism |
|
|
MONDO:0866796 |
rare disorder related to monochorionic twin pregnancy |
GARD:22449 |
MONDO:equivalentTo |
Rare disorder related to monochorionic twin pregnancy |
|
|
MONDO:0866797 |
tetralogy of fallot |
GARD:2245 |
MONDO:equivalentTo |
Tetralogy of Fallot |
|
|
MONDO:0866798 |
rare disorder due to unbalanced inter-twin blood transfusion |
GARD:22450 |
MONDO:equivalentTo |
Rare disorder due to unbalanced inter-twin blood transfusion |
|
|
MONDO:0866799 |
rare disorder due to inadequate sharing of the placenta |
GARD:22451 |
MONDO:equivalentTo |
Rare disorder due to inadequate sharing of the placenta |
|
|
MONDO:0866800 |
classic eosinophilic pustular folliculitis |
GARD:22452 |
MONDO:equivalentTo |
Classic eosinophilic pustular folliculitis |
|
|
MONDO:0866801 |
congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome |
GARD:22453 |
MONDO:equivalentTo |
Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome |
|
|
MONDO:0866802 |
f12-associated cold autoinflammatory syndrome |
GARD:22454 |
MONDO:equivalentTo |
F12-associated cold autoinflammatory syndrome |
|
|
MONDO:0866803 |
hemophilia b leyden |
GARD:22455 |
MONDO:equivalentTo |
Hemophilia B Leyden |
|
|
MONDO:0866804 |
chronic neurovisceral acid sphingomyelinase deficiency |
GARD:22456 |
MONDO:equivalentTo |
Chronic neurovisceral acid sphingomyelinase deficiency |
|
|
MONDO:0866805 |
acid sphingomyelinase deficiency |
GARD:22457 |
MONDO:equivalentTo |
Acid sphingomyelinase deficiency |
|
|
MONDO:0866806 |
hereditary persistence of fetal hemoglobin-intellectual disability syndrome |
GARD:22458 |
MONDO:equivalentTo |
Hereditary persistence of fetal hemoglobin-intellectual disability syndrome |
|
|
MONDO:0866807 |
rare hereditary connective tissue disease |
GARD:22459 |
MONDO:equivalentTo |
Rare hereditary connective tissue disease |
|
|
MONDO:0866808 |
narcolepsy |
GARD:22460 |
MONDO:equivalentTo |
Narcolepsy |
|
|
MONDO:0866809 |
inherited hematologic cancer-predisposing syndrome |
GARD:22461 |
MONDO:equivalentTo |
Inherited hematologic cancer-predisposing syndrome |
|
|
MONDO:0866810 |
neonatal-onset severe multisystemic autoinflammatory disease with increased il18 |
GARD:22462 |
MONDO:equivalentTo |
Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 |
|
|
MONDO:0866811 |
samd9l-associated autoinflammatory syndrome |
GARD:22463 |
MONDO:equivalentTo |
SAMD9L-associated autoinflammatory syndrome |
|
|
MONDO:0866812 |
immune deficiency due to impaired neutrophil phagocytosis and migration |
GARD:22464 |
MONDO:equivalentTo |
Immune deficiency due to impaired neutrophil phagocytosis and migration |
|
|
MONDO:0866813 |
early-onset autoimmunity-autoinflammation-immunodeficiency syndrome |
GARD:22465 |
MONDO:equivalentTo |
Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome |
|
|
MONDO:0866814 |
familial hyperinflammatory lymphoproliferative immunodeficiency |
GARD:22466 |
MONDO:equivalentTo |
Familial hyperinflammatory lymphoproliferative immunodeficiency |
|
|
MONDO:0866815 |
cadins disease |
GARD:22467 |
MONDO:equivalentTo |
CADINS disease |
|
|
MONDO:0866816 |
developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome |
GARD:22468 |
MONDO:equivalentTo |
Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome |
|
|
MONDO:0866817 |
non-syndromic unisutural craniosynostosis |
GARD:22469 |
MONDO:equivalentTo |
Non-syndromic unisutural craniosynostosis |
|
|
MONDO:0866818 |
non-syndromic unicoronal craniosynostosis |
GARD:22470 |
MONDO:equivalentTo |
Non-syndromic unicoronal craniosynostosis |
|
|
MONDO:0866819 |
non-syndromic unilambdoid craniosynostosis |
GARD:22471 |
MONDO:equivalentTo |
Non-syndromic unilambdoid craniosynostosis |
|
|
MONDO:0866820 |
non-syndromic unifrontosphenoidal craniosynostosis |
GARD:22472 |
MONDO:equivalentTo |
Non-syndromic unifrontosphenoidal craniosynostosis |
|
|
MONDO:0866821 |
non-syndromic unisquamosal craniosynostosis |
GARD:22473 |
MONDO:equivalentTo |
Non-syndromic unisquamosal craniosynostosis |
|
|
MONDO:0866822 |
non-syndromic multisutural craniosynostosis |
GARD:22474 |
MONDO:equivalentTo |
Non-syndromic multisutural craniosynostosis |
|
|
MONDO:0866823 |
non-syndromic non-specific multisutural craniosynostosis |
GARD:22475 |
MONDO:equivalentTo |
Non-syndromic non-specific multisutural craniosynostosis |
|
|
MONDO:0866824 |
non-syndromic bilambdoid craniosynostosis |
GARD:22476 |
MONDO:equivalentTo |
Non-syndromic bilambdoid craniosynostosis |
|
|
MONDO:0866825 |
non-syndromic unicoronal and sagittal craniosynostosis |
GARD:22477 |
MONDO:equivalentTo |
Non-syndromic unicoronal and sagittal craniosynostosis |
|
|
MONDO:0866826 |
non-syndromic metopic and sagittal craniosynostosis |
GARD:22478 |
MONDO:equivalentTo |
Non-syndromic metopic and sagittal craniosynostosis |
|
|
MONDO:0866827 |
non-syndromic bicoronal and metopic craniosynostosis |
GARD:22479 |
MONDO:equivalentTo |
Non-syndromic bicoronal and metopic craniosynostosis |
|
|
MONDO:0866828 |
non-syndromic bicoronal and sagittal craniosynostosis |
GARD:22480 |
MONDO:equivalentTo |
Non-syndromic bicoronal and sagittal craniosynostosis |
|
|
MONDO:0866829 |
non-syndromic pansynostosis |
GARD:22481 |
MONDO:equivalentTo |
Non-syndromic pansynostosis |
|
|
MONDO:0866830 |
bartter syndrome type 1 |
GARD:22482 |
MONDO:equivalentTo |
Bartter syndrome type 1 |
|
|
MONDO:0866831 |
bartter syndrome type 2 |
GARD:22483 |
MONDO:equivalentTo |
Bartter syndrome type 2 |
|
|
MONDO:0866832 |
primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome |
GARD:22484 |
MONDO:equivalentTo |
Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome |
|
|
MONDO:0866833 |
egf-related primary hypomagnesemia with intellectual disability |
GARD:22485 |
MONDO:equivalentTo |
EGF-related primary hypomagnesemia with intellectual disability |
|
|
MONDO:0866834 |
gitelman-like kidney tubulopathy due to mitochondrial dna mutation |
GARD:22486 |
MONDO:equivalentTo |
Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation |
|
|
MONDO:0866835 |
fibrosis-neurodegeneration-cerebral angiomatosis syndrome |
GARD:22487 |
MONDO:equivalentTo |
Fibrosis-neurodegeneration-cerebral angiomatosis syndrome |
|
|
MONDO:0866836 |
genetic autoinflammatory syndrome with skin involvement |
GARD:22488 |
MONDO:equivalentTo |
Genetic autoinflammatory syndrome with skin involvement |
|
|
MONDO:0866837 |
rare genetic nevus |
GARD:22489 |
MONDO:equivalentTo |
Rare genetic nevus |
|
|
MONDO:0866838 |
familial thoracic aortic aneurysm and aortic dissection |
GARD:2249 |
MONDO:equivalentTo |
Familial thoracic aortic aneurysm and aortic dissection |
|
|
MONDO:0866839 |
x-linked severe syndromic thoracic aortic aneurysm and dissection |
GARD:22490 |
MONDO:equivalentTo |
X-linked severe syndromic thoracic aortic aneurysm and dissection |
|
|
MONDO:0866840 |
sbds-related severe neonatal spondylometaphyseal dysplasia |
GARD:22491 |
MONDO:equivalentTo |
SBDS-related severe neonatal spondylometaphyseal dysplasia |
|
|
MONDO:0866841 |
autoimmune limbic encephalitis |
GARD:22492 |
MONDO:equivalentTo |
Autoimmune limbic encephalitis |
|
|
MONDO:0866842 |
paraneoplastic cerebellar degeneration |
GARD:22493 |
MONDO:equivalentTo |
Paraneoplastic cerebellar degeneration |
|
|
MONDO:0866843 |
immune-mediated cerebellar ataxia |
GARD:22494 |
MONDO:equivalentTo |
Immune-mediated cerebellar ataxia |
|
|
MONDO:0866844 |
mir140-related spondyloepiphyseal dysplasia |
GARD:22495 |
MONDO:equivalentTo |
MIR140-related spondyloepiphyseal dysplasia |
|
|
MONDO:0866845 |
body integrity dysphoria |
GARD:22496 |
MONDO:equivalentTo |
Body integrity dysphoria |
|
|
MONDO:0866846 |
non-specific autoimmune supratentorial encephalitis with characteristic antibodies |
GARD:22497 |
MONDO:equivalentTo |
Non-specific autoimmune supratentorial encephalitis with characteristic antibodies |
|
|
MONDO:0866847 |
non-specific autoimmune supratentorial encephalitis without characteristic antibodies |
GARD:22498 |
MONDO:equivalentTo |
Non-specific autoimmune supratentorial encephalitis without characteristic antibodies |
|
|
MONDO:0866848 |
paraneoplastic isolated brainstem encephalitis |
GARD:22499 |
MONDO:equivalentTo |
Paraneoplastic isolated brainstem encephalitis |
|
|
MONDO:0866849 |
radial hemimelia |
GARD:225 |
MONDO:equivalentTo |
Radial hemimelia |
|
|
MONDO:0866850 |
non-specific autoimmune brainstem encephalitis with characteristic antibodies |
GARD:22500 |
MONDO:equivalentTo |
Non-specific autoimmune brainstem encephalitis with characteristic antibodies |
|
|
MONDO:0866851 |
non-specific autoimmune brainstem encephalitis without characteristic antibodies |
GARD:22501 |
MONDO:equivalentTo |
Non-specific autoimmune brainstem encephalitis without characteristic antibodies |
|
|
MONDO:0866852 |
postinfectious cerebellitis |
GARD:22502 |
MONDO:equivalentTo |
Postinfectious cerebellitis |
|
|
MONDO:0866853 |
non-specific autoimmune cerebellar ataxia with characteristic antibodies |
GARD:22503 |
MONDO:equivalentTo |
Non-specific autoimmune cerebellar ataxia with characteristic antibodies |
|
|
MONDO:0866854 |
non-specific autoimmune cerebellar ataxia without characteristic antibodies |
GARD:22504 |
MONDO:equivalentTo |
Non-specific autoimmune cerebellar ataxia without characteristic antibodies |
|
|
MONDO:0866855 |
rare teratologic disease |
GARD:22505 |
MONDO:equivalentTo |
Rare teratologic disease |
|
|
MONDO:0866856 |
rare hepatic disease |
GARD:22506 |
MONDO:equivalentTo |
Rare hepatic disease |
|
|
MONDO:0866857 |
rare maxillo-facial surgical disease |
GARD:22507 |
MONDO:equivalentTo |
Rare maxillo-facial surgical disease |
|
|
MONDO:0866858 |
rare inborn errors of metabolism |
GARD:22508 |
MONDO:equivalentTo |
Rare inborn errors of metabolism |
|
|
MONDO:0866859 |
rare infectious disease |
GARD:22509 |
MONDO:equivalentTo |
Rare infectious disease |
|
|
MONDO:0866860 |
rare skin disease |
GARD:22510 |
MONDO:equivalentTo |
Rare skin disease |
|
|
MONDO:0866861 |
rare bone disease |
GARD:22511 |
MONDO:equivalentTo |
Rare bone disease |
|
|
MONDO:0866862 |
rare renal disease |
GARD:22512 |
MONDO:equivalentTo |
Rare renal disease |
|
|
MONDO:0866863 |
rare developmental defect during embryogenesis |
GARD:22513 |
MONDO:equivalentTo |
Rare developmental defect during embryogenesis |
|
|
MONDO:0866864 |
rare gynecologic or obstetric disease |
GARD:22514 |
MONDO:equivalentTo |
Rare gynecologic or obstetric disease |
|
|
MONDO:0866865 |
rare cardiac disease |
GARD:22515 |
MONDO:equivalentTo |
Rare cardiac disease |
|
|
MONDO:0866866 |
rare gastroenterologic disease |
GARD:22516 |
MONDO:equivalentTo |
Rare gastroenterologic disease |
|
|
MONDO:0866867 |
rare respiratory disease |
GARD:22517 |
MONDO:equivalentTo |
Rare respiratory disease |
|
|
MONDO:0866868 |
rare surgical thoracic disease |
GARD:22518 |
MONDO:equivalentTo |
Rare surgical thoracic disease |
|
|
MONDO:0866869 |
rare surgical cardiac disease |
GARD:22519 |
MONDO:equivalentTo |
Rare surgical cardiac disease |
|
|
MONDO:0866870 |
non-acquired combined pituitary hormone deficiency |
GARD:2252 |
MONDO:equivalentTo |
Non-acquired combined pituitary hormone deficiency |
|
|
MONDO:0866871 |
rare ophthalmic disorder |
GARD:22520 |
MONDO:equivalentTo |
Rare ophthalmic disorder |
|
|
MONDO:0866872 |
rare endocrine disease |
GARD:22521 |
MONDO:equivalentTo |
Rare endocrine disease |
|
|
MONDO:0866873 |
rare hematologic disease |
GARD:22522 |
MONDO:equivalentTo |
Rare hematologic disease |
|
|
MONDO:0866874 |
rare immune disease |
GARD:22523 |
MONDO:equivalentTo |
Rare immune disease |
|
|
MONDO:0866875 |
rare neurologic disease |
GARD:22524 |
MONDO:equivalentTo |
Rare neurologic disease |
|
|
MONDO:0866876 |
rare systemic or rheumatologic disease |
GARD:22525 |
MONDO:equivalentTo |
Rare systemic or rheumatologic disease |
|
|
MONDO:0866877 |
rare odontologic disease |
GARD:22526 |
MONDO:equivalentTo |
Rare odontologic disease |
|
|
MONDO:0866878 |
rare circulatory system disease |
GARD:22527 |
MONDO:equivalentTo |
Rare circulatory system disease |
|
|
MONDO:0866879 |
rare otorhinolaryngologic disease |
GARD:22528 |
MONDO:equivalentTo |
Rare otorhinolaryngologic disease |
|
|
MONDO:0866880 |
rare infertility |
GARD:22529 |
MONDO:equivalentTo |
Rare infertility |
|
|
MONDO:0866881 |
rare allergic disease |
GARD:22530 |
MONDO:equivalentTo |
Rare allergic disease |
|
|
MONDO:0866882 |
rare genetic disease |
GARD:22531 |
MONDO:equivalentTo |
Rare genetic disease |
|
|
MONDO:0866883 |
rare urogenital disease |
GARD:22532 |
MONDO:equivalentTo |
Rare urogenital disease |
|
|
MONDO:0866884 |
rare disorder due to toxic effects |
GARD:22533 |
MONDO:equivalentTo |
Rare disorder due to toxic effects |
|
|
MONDO:0866885 |
rare abdominal surgical disease |
GARD:22534 |
MONDO:equivalentTo |
Rare abdominal surgical disease |
|
|
MONDO:0866886 |
rare neoplastic disease |
GARD:22535 |
MONDO:equivalentTo |
Rare neoplastic disease |
|
|
MONDO:0866887 |
rare disorder potentially indicated for transplant or complication after transplantation |
GARD:22536 |
MONDO:equivalentTo |
Rare disorder potentially indicated for transplant or complication after transplantation |
|
|
MONDO:0866888 |
familial nasal acilia |
GARD:2254 |
MONDO:equivalentTo |
Familial nasal acilia |
|
|
MONDO:0866889 |
polydactyly of an index finger |
GARD:2256 |
MONDO:equivalentTo |
Polydactyly of an index finger |
|
|
MONDO:0866890 |
autosomal dominant epilepsy with auditory features |
GARD:2257 |
MONDO:equivalentTo |
Autosomal dominant epilepsy with auditory features |
|
|
MONDO:0866891 |
familial porencephaly |
GARD:2258 |
MONDO:equivalentTo |
Familial porencephaly |
|
|
MONDO:0866892 |
familial supernumerary nipples |
GARD:2259 |
MONDO:equivalentTo |
Familial supernumerary nipples |
|
|
MONDO:0866893 |
rabson-mendenhall syndrome |
GARD:226 |
MONDO:equivalentTo |
Rabson-Mendenhall syndrome |
|
|
MONDO:0866894 |
fanconi-bickel syndrome |
GARD:2268 |
MONDO:equivalentTo |
Fanconi-Bickel syndrome |
|
|
MONDO:0866895 |
posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome |
GARD:2276 |
MONDO:equivalentTo |
Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome |
|
|
MONDO:0866896 |
atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome |
GARD:2279 |
MONDO:equivalentTo |
Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome |
|
|
MONDO:0866897 |
gollop-wolfgang complex |
GARD:2285 |
MONDO:equivalentTo |
Gollop-Wolfgang complex |
|
|
MONDO:0866898 |
femur-fibula-ulna complex |
GARD:2286 |
MONDO:equivalentTo |
Femur-fibula-ulna complex |
|
|
MONDO:0866899 |
ataxia-photosensitivity-short stature syndrome |
GARD:2287 |
MONDO:equivalentTo |
Ataxia-photosensitivity-short stature syndrome |
|
|
MONDO:0866900 |
gómez-lópez-hernández syndrome |
GARD:229 |
MONDO:equivalentTo |
Gómez-López-Hernández syndrome |
|
|
MONDO:0866901 |
aminopterin/methotrexate embryofetopathy |
GARD:2294 |
MONDO:equivalentTo |
Aminopterin/methotrexate embryofetopathy |
|
|
MONDO:0866902 |
fetal and neonatal alloimmune thrombocytopenia |
GARD:2295 |
MONDO:equivalentTo |
Fetal and neonatal alloimmune thrombocytopenia |
|
|
MONDO:0866903 |
blepharophimosis-ptosis-epicanthus inversus syndrome |
GARD:23 |
MONDO:equivalentTo |
Blepharophimosis-ptosis-epicanthus inversus syndrome |
|
|
MONDO:0866904 |
microcephaly-deafness-intellectual disability syndrome |
GARD:230 |
MONDO:equivalentTo |
Microcephaly-deafness-intellectual disability syndrome |
|
|
MONDO:0866905 |
indomethacin embryofetopathy |
GARD:2303 |
MONDO:equivalentTo |
Indomethacin embryofetopathy |
|
|
MONDO:0866906 |
fetal iodine syndrome |
GARD:2304 |
MONDO:equivalentTo |
Fetal iodine syndrome |
|
|
MONDO:0866907 |
congenital left ventricular aneurysm |
GARD:2305 |
MONDO:equivalentTo |
Congenital left ventricular aneurysm |
|
|
MONDO:0866908 |
fetal minoxidil syndrome |
GARD:2308 |
MONDO:equivalentTo |
Fetal minoxidil syndrome |
|
|
MONDO:0866909 |
cach syndrome |
GARD:231 |
MONDO:equivalentTo |
CACH syndrome |
|
|
MONDO:0866910 |
thalidomide embryopathy |
GARD:2313 |
MONDO:equivalentTo |
Thalidomide embryopathy |
|
|
MONDO:0866911 |
fg syndrome type 1 |
GARD:2317 |
MONDO:equivalentTo |
FG syndrome type 1 |
|
|
MONDO:0866912 |
medullary sponge kidney |
GARD:232 |
MONDO:equivalentTo |
Medullary sponge kidney |
|
|
MONDO:0866913 |
congenital fibrinogen deficiency |
GARD:2320 |
MONDO:equivalentTo |
Congenital fibrinogen deficiency |
|
|
MONDO:0866914 |
fibrochondrogenesis |
GARD:2321 |
MONDO:equivalentTo |
Fibrochondrogenesis |
|
|
MONDO:0866915 |
birt-hogg-dubé syndrome |
GARD:2322 |
MONDO:equivalentTo |
Birt-Hogg-Dubé syndrome |
|
|
MONDO:0866916 |
gingival fibromatosis-hypertrichosis syndrome |
GARD:2324 |
MONDO:equivalentTo |
Gingival fibromatosis-hypertrichosis syndrome |
|
|
MONDO:0866917 |
fibrosarcoma |
GARD:2327 |
MONDO:equivalentTo |
Fibrosarcoma |
|
|
MONDO:0866918 |
fibular aplasia-ectrodactyly syndrome |
GARD:2331 |
MONDO:equivalentTo |
Fibular aplasia-ectrodactyly syndrome |
|
|
MONDO:0866919 |
absence of fingerprints-congenital milia syndrome |
GARD:2336 |
MONDO:equivalentTo |
Absence of fingerprints-congenital milia syndrome |
|
|
MONDO:0866920 |
agel amyloidosis |
GARD:2339 |
MONDO:equivalentTo |
AGel amyloidosis |
|
|
MONDO:0866921 |
d-glyceric aciduria |
GARD:234 |
MONDO:equivalentTo |
D-glyceric aciduria |
|
|
MONDO:0866922 |
spastic paraplegia-nephritis-deafness syndrome |
GARD:2342 |
MONDO:equivalentTo |
Spastic paraplegia-nephritis-deafness syndrome |
|
|
MONDO:0866923 |
paraplegia-intellectual disability-hyperkeratosis syndrome |
GARD:2344 |
MONDO:equivalentTo |
Paraplegia-intellectual disability-hyperkeratosis syndrome |
|
|
MONDO:0866924 |
flotch syndrome |
GARD:2346 |
MONDO:equivalentTo |
FLOTCH syndrome |
|
|
MONDO:0866925 |
flynn-aird syndrome |
GARD:2347 |
MONDO:equivalentTo |
Flynn-Aird syndrome |
|
|
MONDO:0866926 |
foix-chavany-marie syndrome |
GARD:2351 |
MONDO:equivalentTo |
Foix-Chavany-Marie syndrome |
|
|
MONDO:0866927 |
follicular lymphoma |
GARD:2356 |
MONDO:equivalentTo |
Follicular lymphoma |
|
|
MONDO:0866928 |
hydrocephalus-blue sclerae-nephropathy syndrome |
GARD:236 |
MONDO:equivalentTo |
Hydrocephalus-blue sclerae-nephropathy syndrome |
|
|
MONDO:0866929 |
cardiospondylocarpofacial syndrome |
GARD:2362 |
MONDO:equivalentTo |
Cardiospondylocarpofacial syndrome |
|
|
MONDO:0866930 |
fowler urethral sphincter dysfunction syndrome |
GARD:2365 |
MONDO:equivalentTo |
Fowler urethral sphincter dysfunction syndrome |
|
|
MONDO:0866931 |
dahlberg-borer-newcomer syndrome |
GARD:237 |
MONDO:equivalentTo |
Dahlberg-Borer-Newcomer syndrome |
|
|
MONDO:0866932 |
frasier syndrome |
GARD:2375 |
MONDO:equivalentTo |
Frasier syndrome |
|
|
MONDO:0866933 |
fraxe intellectual disability |
GARD:2378 |
MONDO:equivalentTo |
FRAXE intellectual disability |
|
|
MONDO:0866934 |
odontomatosis-aortae esophagus stenosis syndrome |
GARD:238 |
MONDO:equivalentTo |
Odontomatosis-aortae esophagus stenosis syndrome |
|
|
MONDO:0866935 |
osteochondrosis of the metatarsal bone |
GARD:2380 |
MONDO:equivalentTo |
Osteochondrosis of the metatarsal bone |
|
|
MONDO:0866936 |
odontotrichomelic syndrome |
GARD:2381 |
MONDO:equivalentTo |
Odontotrichomelic syndrome |
|
|
MONDO:0866937 |
14q22q23 microdeletion syndrome |
GARD:2384 |
MONDO:equivalentTo |
14q22q23 microdeletion syndrome |
|
|
MONDO:0866938 |
say-barber-miller syndrome |
GARD:239 |
MONDO:equivalentTo |
Say-Barber-Miller syndrome |
|
|
MONDO:0866939 |
frontofacionasal dysplasia |
GARD:2390 |
MONDO:equivalentTo |
Frontofacionasal dysplasia |
|
|
MONDO:0866940 |
frontonasal dysplasia |
GARD:2392 |
MONDO:equivalentTo |
Frontonasal dysplasia |
|
|
MONDO:0866941 |
diaphragmatic defect-limb deficiency-skull defect syndrome |
GARD:2397 |
MONDO:equivalentTo |
Diaphragmatic defect-limb deficiency-skull defect syndrome |
|
|
MONDO:0866942 |
fructose-1,6-bisphosphatase deficiency |
GARD:2400 |
MONDO:equivalentTo |
Fructose-1,6-bisphosphatase deficiency |
|
|
MONDO:0866943 |
upper limb mesomelic dysplasia |
GARD:2408 |
MONDO:equivalentTo |
Upper limb mesomelic dysplasia |
|
|
MONDO:0866944 |
fryns-smeets-thiry syndrome |
GARD:2409 |
MONDO:equivalentTo |
Fryns-Smeets-Thiry syndrome |
|
|
MONDO:0866945 |
scalp defects-postaxial polydactyly syndrome |
GARD:241 |
MONDO:equivalentTo |
Scalp defects-postaxial polydactyly syndrome |
|
|
MONDO:0866946 |
fuhrmann syndrome |
GARD:2410 |
MONDO:equivalentTo |
Fuhrmann syndrome |
|
|
MONDO:0866947 |
muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome |
GARD:2417 |
MONDO:equivalentTo |
Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome |
|
|
MONDO:0866948 |
furuncular myiasis |
GARD:2418 |
MONDO:equivalentTo |
Furuncular myiasis |
|
|
MONDO:0866949 |
fused mandibular incisors |
GARD:2419 |
MONDO:equivalentTo |
Fused mandibular incisors |
|
|
MONDO:0866950 |
galactokinase deficiency |
GARD:2422 |
MONDO:equivalentTo |
Galactokinase deficiency |
|
|
MONDO:0866951 |
galactosemia |
GARD:2424 |
MONDO:equivalentTo |
Galactosemia |
|
|
MONDO:0866952 |
growth delay-hydrocephaly-lung hypoplasia syndrome |
GARD:2427 |
MONDO:equivalentTo |
Growth delay-hydrocephaly-lung hypoplasia syndrome |
|
|
MONDO:0866953 |
cystathioninuria |
GARD:2428 |
MONDO:equivalentTo |
Cystathioninuria |
|
|
MONDO:0866954 |
gamma-sarcoglycan-related limb-girdle muscular dystrophy r5 |
GARD:2429 |
MONDO:equivalentTo |
Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 |
|
|
MONDO:0866955 |
trigonocephaly-short stature-developmental delay syndrome |
GARD:243 |
MONDO:equivalentTo |
Trigonocephaly-short stature-developmental delay syndrome |
|
|
MONDO:0866956 |
ganglioglioma |
GARD:2430 |
MONDO:equivalentTo |
Ganglioglioma |
|
|
MONDO:0866957 |
gm1 gangliosidosis type 3 |
GARD:2431 |
MONDO:equivalentTo |
GM1 gangliosidosis type 3 |
|
|
MONDO:0866958 |
x-linked alport syndrome-diffuse leiomyomatosis |
GARD:2432 |
MONDO:equivalentTo |
X-linked Alport syndrome-diffuse leiomyomatosis |
|
|
MONDO:0866959 |
ménétrier disease |
GARD:2436 |
MONDO:equivalentTo |
Ménétrier disease |
|
|
MONDO:0866960 |
gastroenteropancreatic neuroendocrine neoplasm |
GARD:2437 |
MONDO:equivalentTo |
Gastroenteropancreatic neuroendocrine neoplasm |
|
|
MONDO:0866961 |
gastrocutaneous syndrome |
GARD:2438 |
MONDO:equivalentTo |
Gastrocutaneous syndrome |
|
|
MONDO:0866962 |
gaucher disease type 1 |
GARD:2441 |
MONDO:equivalentTo |
Gaucher disease type 1 |
|
|
MONDO:0866963 |
gaucher disease type 2 |
GARD:2442 |
MONDO:equivalentTo |
Gaucher disease type 2 |
|
|
MONDO:0866964 |
gaucher disease type 3 |
GARD:2443 |
MONDO:equivalentTo |
Gaucher disease type 3 |
|
|
MONDO:0866965 |
geleophysic dysplasia |
GARD:2449 |
MONDO:equivalentTo |
Geleophysic dysplasia |
|
|
MONDO:0866966 |
gemignani syndrome |
GARD:2451 |
MONDO:equivalentTo |
Gemignani syndrome |
|
|
MONDO:0866967 |
glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome |
GARD:2452 |
MONDO:equivalentTo |
Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome |
|
|
MONDO:0866968 |
holoprosencephaly-craniosynostosis syndrome |
GARD:2454 |
MONDO:equivalentTo |
Holoprosencephaly-craniosynostosis syndrome |
|
|
MONDO:0866969 |
schisis association |
GARD:246 |
MONDO:equivalentTo |
Schisis association |
|
|
MONDO:0866970 |
genitopalatocardiac syndrome |
GARD:2460 |
MONDO:equivalentTo |
Genitopalatocardiac syndrome |
|
|
MONDO:0866971 |
german syndrome |
GARD:2462 |
MONDO:equivalentTo |
German syndrome |
|
|
MONDO:0866972 |
large congenital melanocytic nevus |
GARD:2469 |
MONDO:equivalentTo |
Large congenital melanocytic nevus |
|
|
MONDO:0866973 |
scarf syndrome |
GARD:247 |
MONDO:equivalentTo |
SCARF syndrome |
|
|
MONDO:0866974 |
bernard-soulier syndrome |
GARD:2470 |
MONDO:equivalentTo |
Bernard-Soulier syndrome |
|
|
MONDO:0866975 |
glanzmann thrombasthenia |
GARD:2478 |
MONDO:equivalentTo |
Glanzmann thrombasthenia |
|
|
MONDO:0866976 |
cataract-deafness-hypogonadism syndrome |
GARD:248 |
MONDO:equivalentTo |
Cataract-deafness-hypogonadism syndrome |
|
|
MONDO:0866977 |
glaucoma-sleep apnea syndrome |
GARD:2483 |
MONDO:equivalentTo |
Glaucoma-sleep apnea syndrome |
|
|
MONDO:0866978 |
congenital glaucoma |
GARD:2485 |
MONDO:equivalentTo |
Congenital glaucoma |
|
|
MONDO:0866979 |
pediatric-onset glaucoma of genetic origin |
GARD:2486 |
MONDO:equivalentTo |
Pediatric-onset glaucoma of genetic origin |
|
|
MONDO:0866980 |
glioblastoma |
GARD:2491 |
MONDO:equivalentTo |
Glioblastoma |
|
|
MONDO:0866981 |
glucagonoma |
GARD:2496 |
MONDO:equivalentTo |
Glucagonoma |
|
|
MONDO:0866982 |
familial glucocorticoid deficiency |
GARD:2498 |
MONDO:equivalentTo |
Familial glucocorticoid deficiency |
|
|
MONDO:0866983 |
generalized glucocorticoid resistance syndrome |
GARD:2499 |
MONDO:equivalentTo |
Generalized glucocorticoid resistance syndrome |
|
|
MONDO:0866984 |
schwartz-jampel syndrome |
GARD:250 |
MONDO:equivalentTo |
Schwartz-Jampel syndrome |
|
|
MONDO:0866985 |
glycogen storage disease due to hepatic glycogen synthase deficiency |
GARD:2513 |
MONDO:equivalentTo |
Glycogen storage disease due to hepatic glycogen synthase deficiency |
|
|
MONDO:0866986 |
glycogen storage disease due to glucose-6-phosphatase deficiency type ib |
GARD:2515 |
MONDO:equivalentTo |
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib |
|
|
MONDO:0866987 |
glycogen storage disease due to glycogen branching enzyme deficiency |
GARD:2520 |
MONDO:equivalentTo |
Glycogen storage disease due to glycogen branching enzyme deficiency |
|
|
MONDO:0866988 |
sandhoff disease |
GARD:2521 |
MONDO:equivalentTo |
Sandhoff disease |
|
|
MONDO:0866989 |
gms syndrome |
GARD:2523 |
MONDO:equivalentTo |
GMS syndrome |
|
|
MONDO:0866990 |
xy type gonadal dysgenesis-associated anomalies syndrome |
GARD:2541 |
MONDO:equivalentTo |
XY type gonadal dysgenesis-associated anomalies syndrome |
|
|
MONDO:0866991 |
perrault syndrome |
GARD:2542 |
MONDO:equivalentTo |
Perrault syndrome |
|
|
MONDO:0866992 |
gonococcal conjunctivitis |
GARD:2546 |
MONDO:equivalentTo |
Gonococcal conjunctivitis |
|
|
MONDO:0866993 |
goodman syndrome |
GARD:2549 |
MONDO:equivalentTo |
Goodman syndrome |
|
|
MONDO:0866994 |
anti-glomerular basement membrane disease |
GARD:2551 |
MONDO:equivalentTo |
Anti-glomerular basement membrane disease |
|
|
MONDO:0866995 |
gordon syndrome |
GARD:2553 |
MONDO:equivalentTo |
Gordon syndrome |
|
|
MONDO:0866996 |
cystic hamartoma of lung and kidney |
GARD:2557 |
MONDO:equivalentTo |
Cystic hamartoma of lung and kidney |
|
|
MONDO:0866997 |
grant syndrome |
GARD:2559 |
MONDO:equivalentTo |
Grant syndrome |
|
|
MONDO:0866998 |
gray platelet syndrome |
GARD:2562 |
MONDO:equivalentTo |
Gray platelet syndrome |
|
|
MONDO:0866999 |
griscelli syndrome type 1 |
GARD:2566 |
MONDO:equivalentTo |
Griscelli syndrome type 1 |
|
|
MONDO:0867000 |
deafness-small bowel diverticulosis-neuropathy syndrome |
GARD:2568 |
MONDO:equivalentTo |
Deafness-small bowel diverticulosis-neuropathy syndrome |
|
|
MONDO:0867001 |
intellectual disability-balding-patella luxation-acromicria syndrome |
GARD:257 |
MONDO:equivalentTo |
Intellectual disability-balding-patella luxation-acromicria syndrome |
|
|
MONDO:0867002 |
myhre syndrome |
GARD:2572 |
MONDO:equivalentTo |
Myhre syndrome |
|
|
MONDO:0867003 |
grubben-de cock-borghgraef syndrome |
GARD:2576 |
MONDO:equivalentTo |
Grubben-de Cock-Borghgraef syndrome |
|
|
MONDO:0867004 |
guanidinoacetate methyltransferase deficiency |
GARD:2578 |
MONDO:equivalentTo |
Guanidinoacetate methyltransferase deficiency |
|
|
MONDO:0867005 |
radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome |
GARD:258 |
MONDO:equivalentTo |
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome |
|
|
MONDO:0867006 |
x-linked corneal dermoid |
GARD:2580 |
MONDO:equivalentTo |
X-linked corneal dermoid |
|
|
MONDO:0867007 |
hall-riggs syndrome |
GARD:2586 |
MONDO:equivalentTo |
Hall-Riggs syndrome |
|
|
MONDO:0867008 |
digital extensor muscle aplasia-polyneuropathy |
GARD:2589 |
MONDO:equivalentTo |
Digital extensor muscle aplasia-polyneuropathy |
|
|
MONDO:0867009 |
nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome |
GARD:259 |
MONDO:equivalentTo |
Nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome |
|
|
MONDO:0867010 |
emery-nelson syndrome |
GARD:2593 |
MONDO:equivalentTo |
Emery-Nelson syndrome |
|
|
MONDO:0867011 |
hand-foot-genital syndrome |
GARD:2594 |
MONDO:equivalentTo |
Hand-foot-genital syndrome |
|
|
MONDO:0867012 |
extensor tendons of finger anomalies |
GARD:2597 |
MONDO:equivalentTo |
Extensor tendons of finger anomalies |
|
|
MONDO:0867013 |
parana hard skin syndrome |
GARD:2598 |
MONDO:equivalentTo |
Parana hard skin syndrome |
|
|
MONDO:0867014 |
walker-warburg syndrome |
GARD:2599 |
MONDO:equivalentTo |
Walker-Warburg syndrome |
|
|
MONDO:0867015 |
cat-eye syndrome |
GARD:26 |
MONDO:equivalentTo |
Cat-eye syndrome |
|
|
MONDO:0867016 |
early-onset cerebellar ataxia with retained tendon reflexes |
GARD:2600 |
MONDO:equivalentTo |
Early-onset cerebellar ataxia with retained tendon reflexes |
|
|
MONDO:0867017 |
harrod syndrome |
GARD:2601 |
MONDO:equivalentTo |
Harrod syndrome |
|
|
MONDO:0867018 |
short stature-craniofacial anomalies-genital hypoplasia syndrome |
GARD:2605 |
MONDO:equivalentTo |
Short stature-craniofacial anomalies-genital hypoplasia syndrome |
|
|
MONDO:0867019 |
heart defects-limb shortening syndrome |
GARD:2613 |
MONDO:equivalentTo |
Heart defects-limb shortening syndrome |
|
|
MONDO:0867020 |
heart-hand syndrome type 3 |
GARD:2614 |
MONDO:equivalentTo |
Heart-hand syndrome type 3 |
|
|
MONDO:0867021 |
narp syndrome |
GARD:262 |
MONDO:equivalentTo |
NARP syndrome |
|
|
MONDO:0867022 |
hec syndrome |
GARD:2620 |
MONDO:equivalentTo |
HEC syndrome |
|
|
MONDO:0867023 |
trismus-pseudocamptodactyly syndrome |
GARD:2621 |
MONDO:equivalentTo |
Trismus-pseudocamptodactyly syndrome |
|
|
MONDO:0867024 |
fatco syndrome |
GARD:2622 |
MONDO:equivalentTo |
FATCO syndrome |
|
|
MONDO:0867025 |
isolated hemihyperplasia |
GARD:2630 |
MONDO:equivalentTo |
Isolated hemihyperplasia |
|
|
MONDO:0867026 |
bencze syndrome |
GARD:2633 |
MONDO:equivalentTo |
Bencze syndrome |
|
|
MONDO:0867027 |
hemimegalencephaly |
GARD:2637 |
MONDO:equivalentTo |
Hemimegalencephaly |
|
|
MONDO:0867028 |
lowry-wood syndrome |
GARD:264 |
MONDO:equivalentTo |
Lowry-Wood syndrome |
|
|
MONDO:0867029 |
hemoglobin c disease |
GARD:2640 |
MONDO:equivalentTo |
Hemoglobin C disease |
|
|
MONDO:0867030 |
hemoglobin e disease |
GARD:2641 |
MONDO:equivalentTo |
Hemoglobin E disease |
|
|
MONDO:0867031 |
lethal hemolytic anemia-genital anomalies syndrome |
GARD:2642 |
MONDO:equivalentTo |
Lethal hemolytic anemia-genital anomalies syndrome |
|
|
MONDO:0867032 |
trichodental syndrome |
GARD:265 |
MONDO:equivalentTo |
Trichodental syndrome |
|
|
MONDO:0867033 |
heparin-induced thrombocytopenia |
GARD:2650 |
MONDO:equivalentTo |
Heparin-induced thrombocytopenia |
|
|
MONDO:0867034 |
hepatic cystic hamartoma |
GARD:2651 |
MONDO:equivalentTo |
Hepatic cystic hamartoma |
|
|
MONDO:0867035 |
hepatoblastoma |
GARD:2657 |
MONDO:equivalentTo |
Hepatoblastoma |
|
|
MONDO:0867036 |
tyrosinemia type 1 |
GARD:2658 |
MONDO:equivalentTo |
Tyrosinemia type 1 |
|
|
MONDO:0867037 |
hereditary methemoglobinemia |
GARD:2659 |
MONDO:equivalentTo |
Hereditary methemoglobinemia |
|
|
MONDO:0867038 |
keipert syndrome |
GARD:267 |
MONDO:equivalentTo |
Keipert syndrome |
|
|
MONDO:0867039 |
hidrotic ectodermal dysplasia, christianson-fourie type |
GARD:2682 |
MONDO:equivalentTo |
Hidrotic ectodermal dysplasia, Christianson-Fourie type |
|
|
MONDO:0867040 |
congenital high-molecular-weight kininogen deficiency |
GARD:2684 |
MONDO:equivalentTo |
Congenital high-molecular-weight kininogen deficiency |
|
|
MONDO:0867041 |
ivic syndrome |
GARD:269 |
MONDO:equivalentTo |
IVIC syndrome |
|
|
MONDO:0867042 |
hip dysplasia, beukes type |
GARD:2690 |
MONDO:equivalentTo |
Hip dysplasia, Beukes type |
|
|
MONDO:0867043 |
hirschsprung disease-ganglioneuroblastoma syndrome |
GARD:2695 |
MONDO:equivalentTo |
Hirschsprung disease-ganglioneuroblastoma syndrome |
|
|
MONDO:0867044 |
cat-scratch disease |
GARD:27 |
MONDO:equivalentTo |
Cat-scratch disease |
|
|
MONDO:0867045 |
nicolaides-baraitser syndrome |
GARD:270 |
MONDO:equivalentTo |
Nicolaides-Baraitser syndrome |
|
|
MONDO:0867046 |
hirschsprung disease-type d brachydactyly syndrome |
GARD:2700 |
MONDO:equivalentTo |
Hirschsprung disease-type D brachydactyly syndrome |
|
|
MONDO:0867047 |
his bundle tachycardia |
GARD:2706 |
MONDO:equivalentTo |
His bundle tachycardia |
|
|
MONDO:0867048 |
histidinuria-renal tubular defect syndrome |
GARD:2708 |
MONDO:equivalentTo |
Histidinuria-renal tubular defect syndrome |
|
|
MONDO:0867049 |
3-hydroxy-3-methylglutaryl-coa synthase deficiency |
GARD:2712 |
MONDO:equivalentTo |
3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
|
|
MONDO:0867050 |
hodgkin lymphoma |
GARD:2714 |
MONDO:equivalentTo |
Hodgkin lymphoma |
|
|
MONDO:0867051 |
vacterl with hydrocephalus |
GARD:272 |
MONDO:equivalentTo |
VACTERL with hydrocephalus |
|
|
MONDO:0867052 |
holocarboxylase synthetase deficiency |
GARD:2721 |
MONDO:equivalentTo |
Holocarboxylase synthetase deficiency |
|
|
MONDO:0867053 |
holoprosencephaly-caudal dysgenesis syndrome |
GARD:2722 |
MONDO:equivalentTo |
Holoprosencephaly-caudal dysgenesis syndrome |
|
|
MONDO:0867054 |
hartsfield syndrome |
GARD:2725 |
MONDO:equivalentTo |
Hartsfield syndrome |
|
|
MONDO:0867055 |
holoprosencephaly-radial heart renal anomalies syndrome |
GARD:2727 |
MONDO:equivalentTo |
Holoprosencephaly-radial heart renal anomalies syndrome |
|
|
MONDO:0867056 |
holzgreve syndrome |
GARD:2728 |
MONDO:equivalentTo |
Holzgreve syndrome |
|
|
MONDO:0867057 |
wrinkly skin syndrome |
GARD:273 |
MONDO:equivalentTo |
Wrinkly skin syndrome |
|
|
MONDO:0867058 |
homocystinuria due to methylene tetrahydrofolate reductase deficiency |
GARD:2734 |
MONDO:equivalentTo |
Homocystinuria due to methylene tetrahydrofolate reductase deficiency |
|
|
MONDO:0867059 |
x-linked immunoneurologic disorder |
GARD:274 |
MONDO:equivalentTo |
X-linked immunoneurologic disorder |
|
|
MONDO:0867060 |
atrioventricular defect-blepharophimosis-radial and anal defect syndrome |
GARD:2742 |
MONDO:equivalentTo |
Atrioventricular defect-blepharophimosis-radial and anal defect syndrome |
|
|
MONDO:0867061 |
humero-radial synostosis |
GARD:2748 |
MONDO:equivalentTo |
Humero-radial synostosis |
|
|
MONDO:0867062 |
humero-radio-ulnar synostosis |
GARD:2749 |
MONDO:equivalentTo |
Humero-radio-ulnar synostosis |
|
|
MONDO:0867063 |
humerus trochlea aplasia |
GARD:2750 |
MONDO:equivalentTo |
Humerus trochlea aplasia |
|
|
MONDO:0867064 |
hunter-mcalpine syndrome |
GARD:2754 |
MONDO:equivalentTo |
Hunter-McAlpine syndrome |
|
|
MONDO:0867065 |
trigonocephaly-broad thumbs syndrome |
GARD:2756 |
MONDO:equivalentTo |
Trigonocephaly-broad thumbs syndrome |
|
|
MONDO:0867066 |
cystic echinococcosis |
GARD:2764 |
MONDO:equivalentTo |
Cystic echinococcosis |
|
|
MONDO:0867067 |
x-linked intellectual disability-plagiocephaly syndrome |
GARD:2765 |
MONDO:equivalentTo |
X-linked intellectual disability-plagiocephaly syndrome |
|
|
MONDO:0867068 |
pilodental dysplasia-refractive errors syndrome |
GARD:277 |
MONDO:equivalentTo |
Pilodental dysplasia-refractive errors syndrome |
|
|
MONDO:0867069 |
hydrocephalus-obesity-hypogonadism syndrome |
GARD:2775 |
MONDO:equivalentTo |
Hydrocephalus-obesity-hypogonadism syndrome |
|
|
MONDO:0867070 |
hydrops fetalis |
GARD:2783 |
MONDO:equivalentTo |
Hydrops fetalis |
|
|
MONDO:0867071 |
hymenolepiasis |
GARD:2787 |
MONDO:equivalentTo |
Hymenolepiasis |
|
|
MONDO:0867072 |
hyperimmunoglobulinemia d with periodic fever |
GARD:2788 |
MONDO:equivalentTo |
Hyperimmunoglobulinemia D with periodic fever |
|
|
MONDO:0867073 |
familial hyperaldosteronism type ii |
GARD:2789 |
MONDO:equivalentTo |
Familial hyperaldosteronism type II |
|
|
MONDO:0867074 |
familial hyperaldosteronism type i |
GARD:2790 |
MONDO:equivalentTo |
Familial hyperaldosteronism type I |
|
|
MONDO:0867075 |
transient familial neonatal hyperbilirubinemia |
GARD:2791 |
MONDO:equivalentTo |
Transient familial neonatal hyperbilirubinemia |
|
|
MONDO:0867076 |
dubin-johnson syndrome |
GARD:2793 |
MONDO:equivalentTo |
Dubin-Johnson syndrome |
|
|
MONDO:0867077 |
familial hypocalciuric hypercalcemia type 1 |
GARD:2796 |
MONDO:equivalentTo |
Familial hypocalciuric hypercalcemia type 1 |
|
|
MONDO:0867078 |
catel-manzke syndrome |
GARD:28 |
MONDO:equivalentTo |
Catel-Manzke syndrome |
|
|
MONDO:0867079 |
hidrotic ectodermal dysplasia, halal type |
GARD:280 |
MONDO:equivalentTo |
Hidrotic ectodermal dysplasia, Halal type |
|
|
MONDO:0867080 |
hypereosinophilic syndrome |
GARD:2804 |
MONDO:equivalentTo |
Hypereosinophilic syndrome |
|
|
MONDO:0867081 |
hereditary hyperferritinemia-cataract syndrome |
GARD:2806 |
MONDO:equivalentTo |
Hereditary hyperferritinemia-cataract syndrome |
|
|
MONDO:0867082 |
isolated glycerol kinase deficiency |
GARD:2807 |
MONDO:equivalentTo |
Isolated glycerol kinase deficiency |
|
|
MONDO:0867083 |
combined immunodeficiency due to dock8 deficiency |
GARD:2816 |
MONDO:equivalentTo |
Combined immunodeficiency due to DOCK8 deficiency |
|
|
MONDO:0867084 |
hyperinsulinism due to glucokinase deficiency |
GARD:2818 |
MONDO:equivalentTo |
Hyperinsulinism due to glucokinase deficiency |
|
|
MONDO:0867085 |
lethal osteosclerotic bone dysplasia |
GARD:282 |
MONDO:equivalentTo |
Lethal osteosclerotic bone dysplasia |
|
|
MONDO:0867086 |
hyperkeratosis lenticularis perstans |
GARD:2824 |
MONDO:equivalentTo |
Hyperkeratosis lenticularis perstans |
|
|
MONDO:0867087 |
epidermolytic palmoplantar keratoderma |
GARD:2826 |
MONDO:equivalentTo |
Epidermolytic palmoplantar keratoderma |
|
|
MONDO:0867088 |
hyperlysinemia |
GARD:2828 |
MONDO:equivalentTo |
Hyperlysinemia |
|
|
MONDO:0867089 |
hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
GARD:2830 |
MONDO:equivalentTo |
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
|
|
MONDO:0867090 |
juvenile paget disease |
GARD:2831 |
MONDO:equivalentTo |
Juvenile Paget disease |
|
|
MONDO:0867091 |
hyperostosis corticalis generalisata |
GARD:2833 |
MONDO:equivalentTo |
Hyperostosis corticalis generalisata |
|
|
MONDO:0867092 |
primary hyperoxaluria type 1 |
GARD:2835 |
MONDO:equivalentTo |
Primary hyperoxaluria type 1 |
|
|
MONDO:0867093 |
primary hyperoxaluria type 2 |
GARD:2836 |
MONDO:equivalentTo |
Primary hyperoxaluria type 2 |
|
|
MONDO:0867094 |
familial primary hyperparathyroidism |
GARD:2837 |
MONDO:equivalentTo |
Familial primary hyperparathyroidism |
|
|
MONDO:0867095 |
neonatal severe primary hyperparathyroidism |
GARD:2838 |
MONDO:equivalentTo |
Neonatal severe primary hyperparathyroidism |
|
|
MONDO:0867096 |
lymphedema-atrial septal defects-facial changes syndrome |
GARD:284 |
MONDO:equivalentTo |
Lymphedema-atrial septal defects-facial changes syndrome |
|
|
MONDO:0867097 |
pterin-4 alpha-carbinolamine dehydratase deficiency |
GARD:2843 |
MONDO:equivalentTo |
Pterin-4 alpha-carbinolamine dehydratase deficiency |
|
|
MONDO:0867098 |
gtp cyclohydrolase i deficiency |
GARD:2844 |
MONDO:equivalentTo |
GTP cyclohydrolase I deficiency |
|
|
MONDO:0867099 |
hyperprolinemia type 1 |
GARD:2847 |
MONDO:equivalentTo |
Hyperprolinemia type 1 |
|
|
MONDO:0867100 |
maternal hyperthermia-induced birth defects |
GARD:2856 |
MONDO:equivalentTo |
Maternal hyperthermia-induced birth defects |
|
|
MONDO:0867101 |
familial hyperthyroidism due to mutations in tsh receptor |
GARD:2858 |
MONDO:equivalentTo |
Familial hyperthyroidism due to mutations in TSH receptor |
|
|
MONDO:0867102 |
x-linked congenital generalized hypertrichosis |
GARD:2863 |
MONDO:equivalentTo |
X-linked congenital generalized hypertrichosis |
|
|
MONDO:0867103 |
acquired hypertrichosis lanuginosa |
GARD:2864 |
MONDO:equivalentTo |
Acquired hypertrichosis lanuginosa |
|
|
MONDO:0867104 |
hypertrichosis lanuginosa congenita |
GARD:2865 |
MONDO:equivalentTo |
Hypertrichosis lanuginosa congenita |
|
|
MONDO:0867105 |
hypertelorism-hypospadias-polysyndactyly syndrome |
GARD:287 |
MONDO:equivalentTo |
Hypertelorism-hypospadias-polysyndactyly syndrome |
|
|
MONDO:0867106 |
hypertryptophanemia |
GARD:2871 |
MONDO:equivalentTo |
Hypertryptophanemia |
|
|
MONDO:0867107 |
apolipoprotein a-i deficiency |
GARD:2872 |
MONDO:equivalentTo |
Apolipoprotein A-I deficiency |
|
|
MONDO:0867108 |
autosomal dominant hypocalcemia |
GARD:2877 |
MONDO:equivalentTo |
Autosomal dominant hypocalcemia |
|
|
MONDO:0867109 |
familial hypocalciuric hypercalcemia type 3 |
GARD:2878 |
MONDO:equivalentTo |
Familial hypocalciuric hypercalcemia type 3 |
|
|
MONDO:0867110 |
hallermann-streiff syndrome |
GARD:288 |
MONDO:equivalentTo |
Hallermann-Streiff syndrome |
|
|
MONDO:0867111 |
achondrogenesis |
GARD:2882 |
MONDO:equivalentTo |
Achondrogenesis |
|
|
MONDO:0867112 |
familial hypofibrinogenemia |
GARD:2887 |
MONDO:equivalentTo |
Familial hypofibrinogenemia |
|
|
MONDO:0867113 |
charge syndrome |
GARD:29 |
MONDO:equivalentTo |
CHARGE syndrome |
|
|
MONDO:0867114 |
hallermann-streiff-like syndrome |
GARD:290 |
MONDO:equivalentTo |
Hallermann-Streiff-like syndrome |
|
|
MONDO:0867115 |
familial isolated dilated cardiomyopathy |
GARD:2905 |
MONDO:equivalentTo |
Familial isolated dilated cardiomyopathy |
|
|
MONDO:0867116 |
primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement |
GARD:2906 |
MONDO:equivalentTo |
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement |
|
|
MONDO:0867117 |
hypomandibular faciocranial dysostosis |
GARD:2907 |
MONDO:equivalentTo |
Hypomandibular faciocranial dysostosis |
|
|
MONDO:0867118 |
müllerian duct anomalies-limb anomalies syndrome |
GARD:2908 |
MONDO:equivalentTo |
Müllerian duct anomalies-limb anomalies syndrome |
|
|
MONDO:0867119 |
familial isolated hypoparathyroidism |
GARD:2910 |
MONDO:equivalentTo |
Familial isolated hypoparathyroidism |
|
|
MONDO:0867120 |
hypoparathyroidism-sensorineural deafness-renal disease syndrome |
GARD:2911 |
MONDO:equivalentTo |
Hypoparathyroidism-sensorineural deafness-renal disease syndrome |
|
|
MONDO:0867121 |
ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome |
GARD:292 |
MONDO:equivalentTo |
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome |
|
|
MONDO:0867122 |
hypoplastic right heart syndrome |
GARD:2922 |
MONDO:equivalentTo |
Hypoplastic right heart syndrome |
|
|
MONDO:0867123 |
congenital factor ii deficiency |
GARD:2926 |
MONDO:equivalentTo |
Congenital factor II deficiency |
|
|
MONDO:0867124 |
hypospadias-intellectual disability, goldblatt type syndrome |
GARD:2928 |
MONDO:equivalentTo |
Hypospadias-intellectual disability, Goldblatt type syndrome |
|
|
MONDO:0867125 |
schilbach-rott syndrome |
GARD:2930 |
MONDO:equivalentTo |
Schilbach-Rott syndrome |
|
|
MONDO:0867126 |
hypoxanthine-guanine phosphoribosyltransferase deficiency |
GARD:2943 |
MONDO:equivalentTo |
Hypoxanthine-guanine phosphoribosyltransferase deficiency |
|
|
MONDO:0867127 |
icf syndrome |
GARD:2945 |
MONDO:equivalentTo |
ICF syndrome |
|
|
MONDO:0867128 |
ichthyosis follicularis-alopecia-photophobia syndrome |
GARD:2952 |
MONDO:equivalentTo |
Ichthyosis follicularis-alopecia-photophobia syndrome |
|
|
MONDO:0867129 |
ichthyosis hystrix of curth-macklin |
GARD:2954 |
MONDO:equivalentTo |
Ichthyosis hystrix of Curth-Macklin |
|
|
MONDO:0867130 |
short tarsus-absence of lower eyelashes syndrome |
GARD:296 |
MONDO:equivalentTo |
Short tarsus-absence of lower eyelashes syndrome |
|
|
MONDO:0867131 |
ichthyosis-oral and digital anomalies syndrome |
GARD:2960 |
MONDO:equivalentTo |
Ichthyosis-oral and digital anomalies syndrome |
|
|
MONDO:0867132 |
superficial epidermolytic ichthyosis |
GARD:2966 |
MONDO:equivalentTo |
Superficial epidermolytic ichthyosis |
|
|
MONDO:0867133 |
hypergonadotropic hypogonadism-cataract syndrome |
GARD:298 |
MONDO:equivalentTo |
Hypergonadotropic hypogonadism-cataract syndrome |
|
|
MONDO:0867134 |
short-limb skeletal dysplasia with severe combined immunodeficiency |
GARD:2988 |
MONDO:equivalentTo |
Short-limb skeletal dysplasia with severe combined immunodeficiency |
|
|
MONDO:0867135 |
imperforate oropharynx-costovertebral anomalies syndrome |
GARD:2989 |
MONDO:equivalentTo |
Imperforate oropharynx-costovertebral anomalies syndrome |
|
|
MONDO:0867136 |
late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome |
GARD:299 |
MONDO:equivalentTo |
Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome |
|
|
MONDO:0867137 |
early-onset progressive encephalopathy with migrant continuous myoclonus |
GARD:2995 |
MONDO:equivalentTo |
Early-onset progressive encephalopathy with migrant continuous myoclonus |
|
|
MONDO:0867138 |
infantile myofibromatosis |
GARD:2998 |
MONDO:equivalentTo |
Infantile myofibromatosis |
|
|
MONDO:0867139 |
ablepharon macrostomia syndrome |
GARD:3 |
MONDO:equivalentTo |
Ablepharon macrostomia syndrome |
|
|
MONDO:0867140 |
rare to-be-classified gard diseases |
GARD:30000 |
MONDO:equivalentTo |
Rare to-be-classified GARD Diseases |
|
|
MONDO:0867141 |
infantile spasms-broad thumbs syndrome |
GARD:3002 |
MONDO:equivalentTo |
Infantile spasms-broad thumbs syndrome |
|
|
MONDO:0867142 |
hereditary sensory and autonomic neuropathy type 4 |
GARD:3006 |
MONDO:equivalentTo |
Hereditary sensory and autonomic neuropathy type 4 |
|
|
MONDO:0867143 |
mosaic variegated aneuploidy syndrome |
GARD:3007 |
MONDO:equivalentTo |
Mosaic variegated aneuploidy syndrome |
|
|
MONDO:0867144 |
insulin-resistance syndrome type a |
GARD:3008 |
MONDO:equivalentTo |
Insulin-resistance syndrome type A |
|
|
MONDO:0867145 |
insulin-resistance syndrome type b |
GARD:3009 |
MONDO:equivalentTo |
Insulin-resistance syndrome type B |
|
|
MONDO:0867146 |
insulinoma |
GARD:3010 |
MONDO:equivalentTo |
Insulinoma |
|
|
MONDO:0867147 |
internal carotid absence |
GARD:3012 |
MONDO:equivalentTo |
Internal carotid absence |
|
|
MONDO:0867148 |
multiple intestinal atresia |
GARD:3013 |
MONDO:equivalentTo |
Multiple intestinal atresia |
|
|
MONDO:0867149 |
kostmann syndrome |
GARD:302 |
MONDO:equivalentTo |
Kostmann syndrome |
|
|
MONDO:0867150 |
cerebral arteriovenous malformation |
GARD:3020 |
MONDO:equivalentTo |
Cerebral arteriovenous malformation |
|
|
MONDO:0867151 |
congenital intrinsic factor deficiency |
GARD:3024 |
MONDO:equivalentTo |
Congenital intrinsic factor deficiency |
|
|
MONDO:0867152 |
coxopodopatellar syndrome |
GARD:3030 |
MONDO:equivalentTo |
Coxopodopatellar syndrome |
|
|
MONDO:0867153 |
isosporiasis |
GARD:3033 |
MONDO:equivalentTo |
Isosporiasis |
|
|
MONDO:0867154 |
blau syndrome |
GARD:304 |
MONDO:equivalentTo |
Blau syndrome |
|
|
MONDO:0867155 |
cln2 disease |
GARD:3045 |
MONDO:equivalentTo |
CLN2 disease |
|
|
MONDO:0867156 |
spondylometaphyseal dysplasia, kozlowski type |
GARD:3047 |
MONDO:equivalentTo |
Spondylometaphyseal dysplasia, Kozlowski type |
|
|
MONDO:0867157 |
jervell and lange-nielsen syndrome |
GARD:3048 |
MONDO:equivalentTo |
Jervell and Lange-Nielsen syndrome |
|
|
MONDO:0867158 |
jeune syndrome |
GARD:3049 |
MONDO:equivalentTo |
Jeune syndrome |
|
|
MONDO:0867159 |
conductive deafness-ptosis-skeletal anomalies syndrome |
GARD:305 |
MONDO:equivalentTo |
Conductive deafness-ptosis-skeletal anomalies syndrome |
|
|
MONDO:0867160 |
aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome |
GARD:3051 |
MONDO:equivalentTo |
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome |
|
|
MONDO:0867161 |
arthrogryposis-hyperkeratosis syndrome, lethal form |
GARD:3053 |
MONDO:equivalentTo |
Arthrogryposis-hyperkeratosis syndrome, lethal form |
|
|
MONDO:0867162 |
familial articular hypermobility syndrome |
GARD:3054 |
MONDO:equivalentTo |
Familial articular hypermobility syndrome |
|
|
MONDO:0867163 |
gingival fibromatosis-progressive deafness syndrome |
GARD:3056 |
MONDO:equivalentTo |
Gingival fibromatosis-progressive deafness syndrome |
|
|
MONDO:0867164 |
camptodactyly-arthropathy-coxa-vara-pericarditis syndrome |
GARD:306 |
MONDO:equivalentTo |
Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome |
|
|
MONDO:0867165 |
juberg-hayward syndrome |
GARD:3060 |
MONDO:equivalentTo |
Juberg-Hayward syndrome |
|
|
MONDO:0867166 |
jung syndrome |
GARD:3062 |
MONDO:equivalentTo |
Jung syndrome |
|
|
MONDO:0867167 |
juvenile polyposis syndrome |
GARD:3065 |
MONDO:equivalentTo |
Juvenile polyposis syndrome |
|
|
MONDO:0867168 |
hypotrichosis with juvenile macular degeneration |
GARD:3066 |
MONDO:equivalentTo |
Hypotrichosis with juvenile macular degeneration |
|
|
MONDO:0867169 |
juvenile temporal arteritis |
GARD:3068 |
MONDO:equivalentTo |
Juvenile temporal arteritis |
|
|
MONDO:0867170 |
jacobsen syndrome |
GARD:307 |
MONDO:equivalentTo |
Jacobsen syndrome |
|
|
MONDO:0867171 |
mesomelic dysplasia, kantaputra type |
GARD:3074 |
MONDO:equivalentTo |
Mesomelic dysplasia, Kantaputra type |
|
|
MONDO:0867172 |
acrocraniofacial dysostosis |
GARD:3075 |
MONDO:equivalentTo |
Acrocraniofacial dysostosis |
|
|
MONDO:0867173 |
kaposiform hemangioendothelioma |
GARD:3077 |
MONDO:equivalentTo |
Kaposiform hemangioendothelioma |
|
|
MONDO:0867174 |
kapur-toriello syndrome |
GARD:3078 |
MONDO:equivalentTo |
Kapur-Toriello syndrome |
|
|
MONDO:0867175 |
oculocerebrofacial syndrome, kaufman type |
GARD:3084 |
MONDO:equivalentTo |
Oculocerebrofacial syndrome, Kaufman type |
|
|
MONDO:0867176 |
pagod syndrome |
GARD:3086 |
MONDO:equivalentTo |
PAGOD syndrome |
|
|
MONDO:0867177 |
autosomal dominant keratitis |
GARD:3089 |
MONDO:equivalentTo |
Autosomal dominant keratitis |
|
|
MONDO:0867178 |
multiple self-healing squamous epithelioma |
GARD:3090 |
MONDO:equivalentTo |
Multiple self-healing squamous epithelioma |
|
|
MONDO:0867179 |
keratoderma hereditarium mutilans |
GARD:3092 |
MONDO:equivalentTo |
Keratoderma hereditarium mutilans |
|
|
MONDO:0867180 |
palmoplantar keratoderma-deafness syndrome |
GARD:3094 |
MONDO:equivalentTo |
Palmoplantar keratoderma-deafness syndrome |
|
|
MONDO:0867181 |
palmoplantar keratoderma-spastic paralysis syndrome |
GARD:3095 |
MONDO:equivalentTo |
Palmoplantar keratoderma-spastic paralysis syndrome |
|
|
MONDO:0867182 |
transgrediens et progrediens palmoplantar keratoderma |
GARD:3096 |
MONDO:equivalentTo |
Transgrediens et progrediens palmoplantar keratoderma |
|
|
MONDO:0867183 |
focal palmoplantar and gingival keratoderma |
GARD:3098 |
MONDO:equivalentTo |
Focal palmoplantar and gingival keratoderma |
|
|
MONDO:0867184 |
keratosis follicularis-dwarfism-cerebral atrophy syndrome |
GARD:3099 |
MONDO:equivalentTo |
Keratosis follicularis-dwarfism-cerebral atrophy syndrome |
|
|
MONDO:0867185 |
serpiginous choroiditis |
GARD:31 |
MONDO:equivalentTo |
Serpiginous choroiditis |
|
|
MONDO:0867186 |
chime syndrome |
GARD:310 |
MONDO:equivalentTo |
CHIME syndrome |
|
|
MONDO:0867187 |
papillon-lefèvre syndrome |
GARD:3100 |
MONDO:equivalentTo |
Papillon-Lefèvre syndrome |
|
|
MONDO:0867188 |
palmoplantar keratoderma-esophageal carcinoma syndrome |
GARD:3102 |
MONDO:equivalentTo |
Palmoplantar keratoderma-esophageal carcinoma syndrome |
|
|
MONDO:0867189 |
punctate palmoplantar keratoderma type 1 |
GARD:3103 |
MONDO:equivalentTo |
Punctate palmoplantar keratoderma type 1 |
|
|
MONDO:0867190 |
tyrosinemia type 2 |
GARD:3105 |
MONDO:equivalentTo |
Tyrosinemia type 2 |
|
|
MONDO:0867191 |
kerion celsi |
GARD:3109 |
MONDO:equivalentTo |
Kerion celsi |
|
|
MONDO:0867192 |
anaplastic large cell lymphoma |
GARD:3112 |
MONDO:equivalentTo |
Anaplastic large cell lymphoma |
|
|
MONDO:0867193 |
kid syndrome |
GARD:3113 |
MONDO:equivalentTo |
KID syndrome |
|
|
MONDO:0867194 |
kleine-levin syndrome |
GARD:3117 |
MONDO:equivalentTo |
Kleine-Levin syndrome |
|
|
MONDO:0867195 |
hallux varus-preaxial polysyndactyly syndrome |
GARD:3118 |
MONDO:equivalentTo |
Hallux varus-preaxial polysyndactyly syndrome |
|
|
MONDO:0867196 |
robinow syndrome |
GARD:312 |
MONDO:equivalentTo |
Robinow syndrome |
|
|
MONDO:0867197 |
angioosteohypertrophic syndrome |
GARD:3122 |
MONDO:equivalentTo |
Angioosteohypertrophic syndrome |
|
|
MONDO:0867198 |
lethal kniest-like dysplasia |
GARD:3124 |
MONDO:equivalentTo |
Lethal Kniest-like dysplasia |
|
|
MONDO:0867199 |
knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome |
GARD:3125 |
MONDO:equivalentTo |
Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome |
|
|
MONDO:0867200 |
familial partial lipodystrophy, dunnigan type |
GARD:3126 |
MONDO:equivalentTo |
Familial partial lipodystrophy, Dunnigan type |
|
|
MONDO:0867201 |
amelocerebrohypohidrotic syndrome |
GARD:3128 |
MONDO:equivalentTo |
Amelocerebrohypohidrotic syndrome |
|
|
MONDO:0867202 |
hereditary hyperekplexia |
GARD:3129 |
MONDO:equivalentTo |
Hereditary hyperekplexia |
|
|
MONDO:0867203 |
saccharopinuria |
GARD:314 |
MONDO:equivalentTo |
Saccharopinuria |
|
|
MONDO:0867204 |
intellectual disability-polydactyly-uncombable hair syndrome |
GARD:3141 |
MONDO:equivalentTo |
Intellectual disability-polydactyly-uncombable hair syndrome |
|
|
MONDO:0867205 |
kuskokwim syndrome |
GARD:3150 |
MONDO:equivalentTo |
Kuskokwim syndrome |
|
|
MONDO:0867206 |
glycogen storage disease due to lactate dehydrogenase deficiency |
GARD:3159 |
MONDO:equivalentTo |
Glycogen storage disease due to lactate dehydrogenase deficiency |
|
|
MONDO:0867207 |
glycogen storage disease due to lactate dehydrogenase m-subunit deficiency |
GARD:3160 |
MONDO:equivalentTo |
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency |
|
|
MONDO:0867208 |
glycogen storage disease due to lactate dehydrogenase h-subunit deficiency |
GARD:3161 |
MONDO:equivalentTo |
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency |
|
|
MONDO:0867209 |
fatal infantile lactic acidosis with methylmalonic aciduria |
GARD:3163 |
MONDO:equivalentTo |
Fatal infantile lactic acidosis with methylmalonic aciduria |
|
|
MONDO:0867210 |
lambert syndrome |
GARD:3169 |
MONDO:equivalentTo |
Lambert syndrome |
|
|
MONDO:0867211 |
diffuse large b-cell lymphoma |
GARD:3178 |
MONDO:equivalentTo |
Diffuse large B-cell lymphoma |
|
|
MONDO:0867212 |
lethal larsen-like syndrome |
GARD:3181 |
MONDO:equivalentTo |
Lethal Larsen-like syndrome |
|
|
MONDO:0867213 |
laryngotracheoesophageal cleft |
GARD:3188 |
MONDO:equivalentTo |
Laryngotracheoesophageal cleft |
|
|
MONDO:0867214 |
sacrococcygeal teratoma |
GARD:319 |
MONDO:equivalentTo |
Sacrococcygeal teratoma |
|
|
MONDO:0867215 |
laryngocele |
GARD:3191 |
MONDO:equivalentTo |
Laryngocele |
|
|
MONDO:0867216 |
larynx atresia |
GARD:3194 |
MONDO:equivalentTo |
Larynx atresia |
|
|
MONDO:0867217 |
graham little-piccardi-lassueur syndrome |
GARD:3195 |
MONDO:equivalentTo |
Graham Little-Piccardi-Lassueur syndrome |
|
|
MONDO:0867218 |
fibulo-ulnar hypoplasia-renal anomalies syndrome |
GARD:320 |
MONDO:equivalentTo |
Fibulo-ulnar hypoplasia-renal anomalies syndrome |
|
|
MONDO:0867219 |
early-onset parkinsonism-intellectual disability syndrome |
GARD:3203 |
MONDO:equivalentTo |
Early-onset parkinsonism-intellectual disability syndrome |
|
|
MONDO:0867220 |
nail-patella-like renal disease |
GARD:321 |
MONDO:equivalentTo |
Nail-patella-like renal disease |
|
|
MONDO:0867221 |
branchio-oculo-facial syndrome |
GARD:3212 |
MONDO:equivalentTo |
Branchio-oculo-facial syndrome |
|
|
MONDO:0867222 |
senior-loken syndrome |
GARD:322 |
MONDO:equivalentTo |
Senior-Loken syndrome |
|
|
MONDO:0867223 |
lenz-majewski hyperostotic dwarfism |
GARD:3223 |
MONDO:equivalentTo |
Lenz-Majewski hyperostotic dwarfism |
|
|
MONDO:0867224 |
léri-weill dyschondrosteosis |
GARD:3224 |
MONDO:equivalentTo |
Léri-Weill dyschondrosteosis |
|
|
MONDO:0867225 |
lethal congenital contracture syndrome type 1 |
GARD:3227 |
MONDO:equivalentTo |
Lethal congenital contracture syndrome type 1 |
|
|
MONDO:0867226 |
maple syrup urine disease |
GARD:3228 |
MONDO:equivalentTo |
Maple syrup urine disease |
|
|
MONDO:0867227 |
metachromatic leukodystrophy |
GARD:3230 |
MONDO:equivalentTo |
Metachromatic leukodystrophy |
|
|
MONDO:0867228 |
ravine syndrome |
GARD:3231 |
MONDO:equivalentTo |
Ravine syndrome |
|
|
MONDO:0867229 |
leukoencephalopathy-palmoplantar keratoderma syndrome |
GARD:3232 |
MONDO:equivalentTo |
Leukoencephalopathy-palmoplantar keratoderma syndrome |
|
|
MONDO:0867230 |
ophthalmoplegia-intellectual disability-lingua scrotalis syndrome |
GARD:3236 |
MONDO:equivalentTo |
Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome |
|
|
MONDO:0867231 |
hypogonadotropic hypogonadism-frontoparietal alopecia syndrome |
GARD:324 |
MONDO:equivalentTo |
Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome |
|
|
MONDO:0867232 |
autosomal dominant popliteal pterygium syndrome |
GARD:3242 |
MONDO:equivalentTo |
Autosomal dominant popliteal pterygium syndrome |
|
|
MONDO:0867233 |
leydig cell hypoplasia |
GARD:3244 |
MONDO:equivalentTo |
Leydig cell hypoplasia |
|
|
MONDO:0867234 |
lichen planopilaris |
GARD:3247 |
MONDO:equivalentTo |
Lichen planopilaris |
|
|
MONDO:0867235 |
lichtenstein syndrome |
GARD:3248 |
MONDO:equivalentTo |
Lichtenstein syndrome |
|
|
MONDO:0867236 |
twin to twin transfusion syndrome |
GARD:325 |
MONDO:equivalentTo |
Twin to twin transfusion syndrome |
|
|
MONDO:0867237 |
limb body wall complex |
GARD:3251 |
MONDO:equivalentTo |
Limb body wall complex |
|
|
MONDO:0867238 |
distal limb deficiencies-micrognathia syndrome |
GARD:3252 |
MONDO:equivalentTo |
Distal limb deficiencies-micrognathia syndrome |
|
|
MONDO:0867239 |
linear verrucous nevus syndrome |
GARD:3259 |
MONDO:equivalentTo |
Linear verrucous nevus syndrome |
|
|
MONDO:0867240 |
neutral lipid storage disease |
GARD:3262 |
MONDO:equivalentTo |
Neutral lipid storage disease |
|
|
MONDO:0867241 |
pyruvate dehydrogenase e3 deficiency |
GARD:3263 |
MONDO:equivalentTo |
Pyruvate dehydrogenase E3 deficiency |
|
|
MONDO:0867242 |
lipoid proteinosis |
GARD:3268 |
MONDO:equivalentTo |
Lipoid proteinosis |
|
|
MONDO:0867243 |
cobblestone lissencephaly |
GARD:3277 |
MONDO:equivalentTo |
Cobblestone lissencephaly |
|
|
MONDO:0867244 |
loiasis |
GARD:3283 |
MONDO:equivalentTo |
Loiasis |
|
|
MONDO:0867245 |
romano-ward syndrome |
GARD:3284 |
MONDO:equivalentTo |
Romano-Ward syndrome |
|
|
MONDO:0867246 |
loose anagen syndrome |
GARD:3287 |
MONDO:equivalentTo |
Loose anagen syndrome |
|
|
MONDO:0867247 |
wells syndrome |
GARD:329 |
MONDO:equivalentTo |
Wells syndrome |
|
|
MONDO:0867248 |
oculocerebrorenal syndrome of lowe |
GARD:3295 |
MONDO:equivalentTo |
Oculocerebrorenal syndrome of Lowe |
|
|
MONDO:0867249 |
wiedemann-rautenstrauch syndrome |
GARD:330 |
MONDO:equivalentTo |
Wiedemann-Rautenstrauch syndrome |
|
|
MONDO:0867250 |
lowry-maclean syndrome |
GARD:3300 |
MONDO:equivalentTo |
Lowry-MacLean syndrome |
|
|
MONDO:0867251 |
cystic fibrosis-gastritis-megaloblastic anemia syndrome |
GARD:3303 |
MONDO:equivalentTo |
Cystic fibrosis-gastritis-megaloblastic anemia syndrome |
|
|
MONDO:0867252 |
lujan-fryns syndrome |
GARD:3307 |
MONDO:equivalentTo |
Lujan-Fryns syndrome |
|
|
MONDO:0867253 |
yunis-varon syndrome |
GARD:331 |
MONDO:equivalentTo |
Yunis-Varon syndrome |
|
|
MONDO:0867254 |
cerebellar ataxia-hypogonadism syndrome |
GARD:3314 |
MONDO:equivalentTo |
Cerebellar ataxia-hypogonadism syndrome |
|
|
MONDO:0867255 |
hennekam syndrome |
GARD:3318 |
MONDO:equivalentTo |
Hennekam syndrome |
|
|
MONDO:0867256 |
lymphangioleiomyomatosis |
GARD:3319 |
MONDO:equivalentTo |
Lymphangioleiomyomatosis |
|
|
MONDO:0867257 |
cutis gyrata-acanthosis nigricans-craniosynostosis syndrome |
GARD:332 |
MONDO:equivalentTo |
Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome |
|
|
MONDO:0867258 |
lymphatic filariasis |
GARD:3321 |
MONDO:equivalentTo |
Lymphatic filariasis |
|
|
MONDO:0867259 |
meige disease |
GARD:3324 |
MONDO:equivalentTo |
Meige disease |
|
|
MONDO:0867260 |
lymphedema-distichiasis syndrome |
GARD:333 |
MONDO:equivalentTo |
Lymphedema-distichiasis syndrome |
|
|
MONDO:0867261 |
lysinuric protein intolerance |
GARD:3335 |
MONDO:equivalentTo |
Lysinuric protein intolerance |
|
|
MONDO:0867262 |
dyschromatosis symmetrica hereditaria |
GARD:334 |
MONDO:equivalentTo |
Dyschromatosis symmetrica hereditaria |
|
|
MONDO:0867263 |
macroglossia |
GARD:3342 |
MONDO:equivalentTo |
Macroglossia |
|
|
MONDO:0867264 |
beckwith-wiedemann syndrome |
GARD:3343 |
MONDO:equivalentTo |
Beckwith-Wiedemann syndrome |
|
|
MONDO:0867265 |
hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome |
GARD:3347 |
MONDO:equivalentTo |
Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome |
|
|
MONDO:0867266 |
blepharophimosis-intellectual disability syndrome, ohdo type |
GARD:3348 |
MONDO:equivalentTo |
Blepharophimosis-intellectual disability syndrome, Ohdo type |
|
|
MONDO:0867267 |
autosomal dominant primary hypomagnesemia with hypocalciuria |
GARD:3350 |
MONDO:equivalentTo |
Autosomal dominant primary hypomagnesemia with hypocalciuria |
|
|
MONDO:0867268 |
autosomal recessive spastic paraplegia type 23 |
GARD:336 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 23 |
|
|
MONDO:0867269 |
multiple pterygium-malignant hyperthermia syndrome |
GARD:3361 |
MONDO:equivalentTo |
Multiple pterygium-malignant hyperthermia syndrome |
|
|
MONDO:0867270 |
malonic aciduria |
GARD:3371 |
MONDO:equivalentTo |
Malonic aciduria |
|
|
MONDO:0867271 |
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome |
GARD:3373 |
MONDO:equivalentTo |
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome |
|
|
MONDO:0867272 |
mandibuloacral dysplasia with type a lipodystrophy |
GARD:3374 |
MONDO:equivalentTo |
Mandibuloacral dysplasia with type A lipodystrophy |
|
|
MONDO:0867273 |
lung agenesis-heart defect-thumb anomalies syndrome |
GARD:3378 |
MONDO:equivalentTo |
Lung agenesis-heart defect-thumb anomalies syndrome |
|
|
MONDO:0867274 |
van den ende-gupta syndrome |
GARD:3382 |
MONDO:equivalentTo |
Van den Ende-Gupta syndrome |
|
|
MONDO:0867275 |
marfanoid habitus-autosomal recessive intellectual disability syndrome |
GARD:3388 |
MONDO:equivalentTo |
Marfanoid habitus-autosomal recessive intellectual disability syndrome |
|
|
MONDO:0867276 |
marie unna hereditary hypotrichosis |
GARD:3390 |
MONDO:equivalentTo |
Marie Unna hereditary hypotrichosis |
|
|
MONDO:0867277 |
oculotrichoanal syndrome |
GARD:3395 |
MONDO:equivalentTo |
Oculotrichoanal syndrome |
|
|
MONDO:0867278 |
osteocraniostenosis |
GARD:3396 |
MONDO:equivalentTo |
Osteocraniostenosis |
|
|
MONDO:0867279 |
lethal recessive chondrodysplasia |
GARD:3399 |
MONDO:equivalentTo |
Lethal recessive chondrodysplasia |
|
|
MONDO:0867280 |
marfanoid syndrome, de silva type |
GARD:3401 |
MONDO:equivalentTo |
Marfanoid syndrome, De Silva type |
|
|
MONDO:0867281 |
cataract-intellectual disability-hypogonadism syndrome |
GARD:3406 |
MONDO:equivalentTo |
Cataract-intellectual disability-hypogonadism syndrome |
|
|
MONDO:0867282 |
hennekam-beemer syndrome |
GARD:3409 |
MONDO:equivalentTo |
Hennekam-Beemer syndrome |
|
|
MONDO:0867283 |
young syndrome |
GARD:341 |
MONDO:equivalentTo |
Young syndrome |
|
|
MONDO:0867284 |
maternal phenylketonuria |
GARD:3413 |
MONDO:equivalentTo |
Maternal phenylketonuria |
|
|
MONDO:0867285 |
mcdonough syndrome |
GARD:3424 |
MONDO:equivalentTo |
McDonough syndrome |
|
|
MONDO:0867286 |
familial scaphocephaly syndrome, mcgillivray type |
GARD:3426 |
MONDO:equivalentTo |
Familial scaphocephaly syndrome, McGillivray type |
|
|
MONDO:0867287 |
mckusick-kaufman syndrome |
GARD:3427 |
MONDO:equivalentTo |
McKusick-Kaufman syndrome |
|
|
MONDO:0867288 |
pontocerebellar hypoplasia type 4 |
GARD:343 |
MONDO:equivalentTo |
Pontocerebellar hypoplasia type 4 |
|
|
MONDO:0867289 |
cleft lip/palate-intestinal malrotation-cardiopathy syndrome |
GARD:3430 |
MONDO:equivalentTo |
Cleft lip/palate-intestinal malrotation-cardiopathy syndrome |
|
|
MONDO:0867290 |
meacham syndrome |
GARD:3432 |
MONDO:equivalentTo |
Meacham syndrome |
|
|
MONDO:0867291 |
meckel syndrome |
GARD:3436 |
MONDO:equivalentTo |
Meckel syndrome |
|
|
MONDO:0867292 |
dysraphism-cleft lip/palate-limb reduction defects syndrome |
GARD:3438 |
MONDO:equivalentTo |
Dysraphism-cleft lip/palate-limb reduction defects syndrome |
|
|
MONDO:0867293 |
pai syndrome |
GARD:3439 |
MONDO:equivalentTo |
Pai syndrome |
|
|
MONDO:0867294 |
holoprosencephaly-postaxial polydactyly syndrome |
GARD:344 |
MONDO:equivalentTo |
Holoprosencephaly-postaxial polydactyly syndrome |
|
|
MONDO:0867295 |
median nodule of the upper lip |
GARD:3440 |
MONDO:equivalentTo |
Median nodule of the upper lip |
|
|
MONDO:0867296 |
megacystis-microcolon-intestinal hypoperistalsis syndrome |
GARD:3442 |
MONDO:equivalentTo |
Megacystis-microcolon-intestinal hypoperistalsis syndrome |
|
|
MONDO:0867297 |
familial visceral myopathy |
GARD:3443 |
MONDO:equivalentTo |
Familial visceral myopathy |
|
|
MONDO:0867298 |
megalencephalic leukoencephalopathy with subcortical cysts |
GARD:3445 |
MONDO:equivalentTo |
Megalencephalic leukoencephalopathy with subcortical cysts |
|
|
MONDO:0867299 |
megalocornea-intellectual disability syndrome |
GARD:3448 |
MONDO:equivalentTo |
Megalocornea-intellectual disability syndrome |
|
|
MONDO:0867300 |
delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome |
GARD:3449 |
MONDO:equivalentTo |
Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome |
|
|
MONDO:0867301 |
x-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome |
GARD:345 |
MONDO:equivalentTo |
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome |
|
|
MONDO:0867302 |
primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement |
GARD:3451 |
MONDO:equivalentTo |
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement |
|
|
MONDO:0867303 |
hoyeraal-hreidarsson syndrome |
GARD:346 |
MONDO:equivalentTo |
Hoyeraal-Hreidarsson syndrome |
|
|
MONDO:0867304 |
familial melanoma |
GARD:3460 |
MONDO:equivalentTo |
Familial melanoma |
|
|
MONDO:0867305 |
melhem-fahl syndrome |
GARD:3462 |
MONDO:equivalentTo |
Melhem-Fahl syndrome |
|
|
MONDO:0867306 |
pancreatic hypoplasia-diabetes-congenital heart disease syndrome |
GARD:347 |
MONDO:equivalentTo |
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome |
|
|
MONDO:0867307 |
myelomeningocele |
GARD:3475 |
MONDO:equivalentTo |
Myelomeningocele |
|
|
MONDO:0867308 |
yolk sac tumor |
GARD:348 |
MONDO:equivalentTo |
Yolk sac tumor |
|
|
MONDO:0867309 |
cerebrooculonasal syndrome |
GARD:3480 |
MONDO:equivalentTo |
Cerebrooculonasal syndrome |
|
|
MONDO:0867310 |
severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome |
GARD:3482 |
MONDO:equivalentTo |
Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome |
|
|
MONDO:0867311 |
intellectual disability, buenos-aires type |
GARD:3485 |
MONDO:equivalentTo |
Intellectual disability, Buenos-Aires type |
|
|
MONDO:0867312 |
hernández-aguirre negrete syndrome |
GARD:3491 |
MONDO:equivalentTo |
Hernández-Aguirre Negrete syndrome |
|
|
MONDO:0867313 |
tetrasomy 18p |
GARD:35 |
MONDO:equivalentTo |
Tetrasomy 18p |
|
|
MONDO:0867314 |
skeletal dysplasia-epilepsy-short stature syndrome |
GARD:350 |
MONDO:equivalentTo |
Skeletal dysplasia-epilepsy-short stature syndrome |
|
|
MONDO:0867315 |
severe intellectual disability-progressive spastic diplegia syndrome |
GARD:3505 |
MONDO:equivalentTo |
Severe intellectual disability-progressive spastic diplegia syndrome |
|
|
MONDO:0867316 |
x-linked intellectual disability-psychosis-macroorchidism syndrome |
GARD:3506 |
MONDO:equivalentTo |
X-linked intellectual disability-psychosis-macroorchidism syndrome |
|
|
MONDO:0867317 |
dacryocystitis-osteopoikilosis syndrome |
GARD:351 |
MONDO:equivalentTo |
Dacryocystitis-osteopoikilosis syndrome |
|
|
MONDO:0867318 |
intellectual disability-short stature-hypertelorism syndrome |
GARD:3514 |
MONDO:equivalentTo |
Intellectual disability-short stature-hypertelorism syndrome |
|
|
MONDO:0867319 |
metaphyseal acroscyphodysplasia |
GARD:3519 |
MONDO:equivalentTo |
Metaphyseal acroscyphodysplasia |
|
|
MONDO:0867320 |
x-linked skeletal dysplasia-intellectual disability syndrome |
GARD:3520 |
MONDO:equivalentTo |
X-linked skeletal dysplasia-intellectual disability syndrome |
|
|
MONDO:0867321 |
intellectual disability-spasticity-ectrodactyly syndrome |
GARD:3523 |
MONDO:equivalentTo |
Intellectual disability-spasticity-ectrodactyly syndrome |
|
|
MONDO:0867322 |
mietens syndrome |
GARD:3524 |
MONDO:equivalentTo |
Mietens syndrome |
|
|
MONDO:0867323 |
intellectual disability, wolff type |
GARD:3530 |
MONDO:equivalentTo |
Intellectual disability, Wolff type |
|
|
MONDO:0867324 |
monoamine oxidase a deficiency |
GARD:3531 |
MONDO:equivalentTo |
Monoamine oxidase A deficiency |
|
|
MONDO:0867325 |
atkin-flaitz syndrome |
GARD:3537 |
MONDO:equivalentTo |
Atkin-Flaitz syndrome |
|
|
MONDO:0867326 |
osteopenia-intellectual disability-sparse hair syndrome |
GARD:354 |
MONDO:equivalentTo |
Osteopenia-intellectual disability-sparse hair syndrome |
|
|
MONDO:0867327 |
mesomelic dwarfism-cleft palate-camptodactyly syndrome |
GARD:3552 |
MONDO:equivalentTo |
Mesomelic dwarfism-cleft palate-camptodactyly syndrome |
|
|
MONDO:0867328 |
langer mesomelic dysplasia |
GARD:3553 |
MONDO:equivalentTo |
Langer mesomelic dysplasia |
|
|
MONDO:0867329 |
mesomelic dysplasia, nievergelt type |
GARD:3554 |
MONDO:equivalentTo |
Mesomelic dysplasia, Nievergelt type |
|
|
MONDO:0867330 |
mesomelic dwarfism, reinhardt-pfeiffer type |
GARD:3555 |
MONDO:equivalentTo |
Mesomelic dwarfism, Reinhardt-Pfeiffer type |
|
|
MONDO:0867331 |
syndactyly type 8 |
GARD:3559 |
MONDO:equivalentTo |
Syndactyly type 8 |
|
|
MONDO:0867332 |
metachondromatosis |
GARD:3560 |
MONDO:equivalentTo |
Metachondromatosis |
|
|
MONDO:0867333 |
metaphyseal anadysplasia |
GARD:3562 |
MONDO:equivalentTo |
Metaphyseal anadysplasia |
|
|
MONDO:0867334 |
metaphyseal chondrodysplasia, spahr type |
GARD:3563 |
MONDO:equivalentTo |
Metaphyseal chondrodysplasia, Spahr type |
|
|
MONDO:0867335 |
metaphyseal dysostosis-intellectual disability-conductive deafness syndrome |
GARD:3566 |
MONDO:equivalentTo |
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome |
|
|
MONDO:0867336 |
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome |
GARD:3568 |
MONDO:equivalentTo |
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome |
|
|
MONDO:0867337 |
metatropic dysplasia |
GARD:3571 |
MONDO:equivalentTo |
Metatropic dysplasia |
|
|
MONDO:0867338 |
methimazole embryofetopathy |
GARD:3573 |
MONDO:equivalentTo |
Methimazole embryofetopathy |
|
|
MONDO:0867339 |
fetal methylmercury syndrome |
GARD:3575 |
MONDO:equivalentTo |
Fetal methylmercury syndrome |
|
|
MONDO:0867340 |
methylcobalamin deficiency type cble |
GARD:3576 |
MONDO:equivalentTo |
Methylcobalamin deficiency type cblE |
|
|
MONDO:0867341 |
methylcobalamin deficiency type cblg |
GARD:3577 |
MONDO:equivalentTo |
Methylcobalamin deficiency type cblG |
|
|
MONDO:0867342 |
methylmalonic acidemia with homocystinuria |
GARD:3579 |
MONDO:equivalentTo |
Methylmalonic acidemia with homocystinuria |
|
|
MONDO:0867343 |
w syndrome |
GARD:358 |
MONDO:equivalentTo |
W syndrome |
|
|
MONDO:0867344 |
methylmalonic acidemia with homocystinuria, type cbld |
GARD:3582 |
MONDO:equivalentTo |
Methylmalonic acidemia with homocystinuria, type cblD |
|
|
MONDO:0867345 |
methylmalonic acidemia with homocystinuria type cblf |
GARD:3584 |
MONDO:equivalentTo |
Methylmalonic acidemia with homocystinuria type cblF |
|
|
MONDO:0867346 |
vitamin b12-unresponsive methylmalonic acidemia |
GARD:3586 |
MONDO:equivalentTo |
Vitamin B12-unresponsive methylmalonic acidemia |
|
|
MONDO:0867347 |
mevalonic aciduria |
GARD:3588 |
MONDO:equivalentTo |
Mevalonic aciduria |
|
|
MONDO:0867348 |
multiple benign circumferential skin creases on limbs |
GARD:3589 |
MONDO:equivalentTo |
Multiple benign circumferential skin creases on limbs |
|
|
MONDO:0867349 |
cranioectodermal dysplasia |
GARD:359 |
MONDO:equivalentTo |
Cranioectodermal dysplasia |
|
|
MONDO:0867350 |
microbrachycephaly-ptosis-cleft lip syndrome |
GARD:3596 |
MONDO:equivalentTo |
Microbrachycephaly-ptosis-cleft lip syndrome |
|
|
MONDO:0867351 |
abruzzo-erickson syndrome |
GARD:360 |
MONDO:equivalentTo |
Abruzzo-Erickson syndrome |
|
|
MONDO:0867352 |
microcephalic primordial dwarfism, toriello type |
GARD:3602 |
MONDO:equivalentTo |
Microcephalic primordial dwarfism, Toriello type |
|
|
MONDO:0867353 |
isolated congenital microcephaly |
GARD:3603 |
MONDO:equivalentTo |
Isolated congenital microcephaly |
|
|
MONDO:0867354 |
microcephaly-albinism-digital anomalies syndrome |
GARD:3604 |
MONDO:equivalentTo |
Microcephaly-albinism-digital anomalies syndrome |
|
|
MONDO:0867355 |
autosomal dominant primary microcephaly |
GARD:3605 |
MONDO:equivalentTo |
Autosomal dominant primary microcephaly |
|
|
MONDO:0867356 |
microcephaly-brain defect-spasticity-hypernatremia syndrome |
GARD:3607 |
MONDO:equivalentTo |
Microcephaly-brain defect-spasticity-hypernatremia syndrome |
|
|
MONDO:0867357 |
microcephaly-cardiomyopathy syndrome |
GARD:3609 |
MONDO:equivalentTo |
Microcephaly-cardiomyopathy syndrome |
|
|
MONDO:0867358 |
acalvaria |
GARD:361 |
MONDO:equivalentTo |
Acalvaria |
|
|
MONDO:0867359 |
microcephaly-cervical spine fusion anomalies syndrome |
GARD:3610 |
MONDO:equivalentTo |
Microcephaly-cervical spine fusion anomalies syndrome |
|
|
MONDO:0867360 |
microcephaly-glomerulonephritis-marfanoid habitus syndrome |
GARD:3615 |
MONDO:equivalentTo |
Microcephaly-glomerulonephritis-marfanoid habitus syndrome |
|
|
MONDO:0867361 |
mikati-najjar-sahli syndrome |
GARD:3617 |
MONDO:equivalentTo |
Mikati-Najjar-Sahli syndrome |
|
|
MONDO:0867362 |
microcephaly-lymphedema-chorioretinopathy syndrome |
GARD:3622 |
MONDO:equivalentTo |
Microcephaly-lymphedema-chorioretinopathy syndrome |
|
|
MONDO:0867363 |
microcephaly-microcornea syndrome, seemanova type |
GARD:3627 |
MONDO:equivalentTo |
Microcephaly-microcornea syndrome, Seemanova type |
|
|
MONDO:0867364 |
acatalasemia |
GARD:363 |
MONDO:equivalentTo |
Acatalasemia |
|
|
MONDO:0867365 |
congenital microcoria |
GARD:3635 |
MONDO:equivalentTo |
Congenital microcoria |
|
|
MONDO:0867366 |
microcornea-glaucoma-absent frontal sinuses syndrome |
GARD:3637 |
MONDO:equivalentTo |
Microcornea-glaucoma-absent frontal sinuses syndrome |
|
|
MONDO:0867367 |
isolated arrhinia |
GARD:364 |
MONDO:equivalentTo |
Isolated arrhinia |
|
|
MONDO:0867368 |
microgastria-limb reduction defect syndrome |
GARD:3640 |
MONDO:equivalentTo |
Microgastria-limb reduction defect syndrome |
|
|
MONDO:0867369 |
autosomal dominant omodysplasia |
GARD:3643 |
MONDO:equivalentTo |
Autosomal dominant omodysplasia |
|
|
MONDO:0867370 |
colobomatous microphthalmia |
GARD:3644 |
MONDO:equivalentTo |
Colobomatous microphthalmia |
|
|
MONDO:0867371 |
microphthalmia with brain and digit anomalies |
GARD:3645 |
MONDO:equivalentTo |
Microphthalmia with brain and digit anomalies |
|
|
MONDO:0867372 |
aromatase deficiency |
GARD:365 |
MONDO:equivalentTo |
Aromatase deficiency |
|
|
MONDO:0867373 |
microphthalmia-microtia-fetal akinesia syndrome |
GARD:3650 |
MONDO:equivalentTo |
Microphthalmia-microtia-fetal akinesia syndrome |
|
|
MONDO:0867374 |
microscopic polyangiitis |
GARD:3652 |
MONDO:equivalentTo |
Microscopic polyangiitis |
|
|
MONDO:0867375 |
oculoauriculovertebral spectrum with radial defects |
GARD:3653 |
MONDO:equivalentTo |
Oculoauriculovertebral spectrum with radial defects |
|
|
MONDO:0867376 |
microsporidiosis |
GARD:3655 |
MONDO:equivalentTo |
Microsporidiosis |
|
|
MONDO:0867377 |
microphthalmia with linear skin defects syndrome |
GARD:3659 |
MONDO:equivalentTo |
Microphthalmia with linear skin defects syndrome |
|
|
MONDO:0867378 |
miller fisher syndrome |
GARD:3668 |
MONDO:equivalentTo |
Miller Fisher syndrome |
|
|
MONDO:0867379 |
miller-dieker syndrome |
GARD:3669 |
MONDO:equivalentTo |
Miller-Dieker syndrome |
|
|
MONDO:0867380 |
mitochondrial dna-associated leigh syndrome |
GARD:3671 |
MONDO:equivalentTo |
Mitochondrial DNA-associated Leigh syndrome |
|
|
MONDO:0867381 |
non-spherocytic hemolytic anemia due to hexokinase deficiency |
GARD:3672 |
MONDO:equivalentTo |
Non-spherocytic hemolytic anemia due to hexokinase deficiency |
|
|
MONDO:0867382 |
laryngo-onycho-cutaneous syndrome |
GARD:368 |
MONDO:equivalentTo |
Laryngo-onycho-cutaneous syndrome |
|
|
MONDO:0867383 |
mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria |
GARD:3681 |
MONDO:equivalentTo |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria |
|
|
MONDO:0867384 |
mitochondrial myopathy-lactic acidosis-deafness syndrome |
GARD:3682 |
MONDO:equivalentTo |
Mitochondrial myopathy-lactic acidosis-deafness syndrome |
|
|
MONDO:0867385 |
mitochondrial trifunctional protein deficiency |
GARD:3684 |
MONDO:equivalentTo |
Mitochondrial trifunctional protein deficiency |
|
|
MONDO:0867386 |
mitral atresia |
GARD:3685 |
MONDO:equivalentTo |
Mitral atresia |
|
|
MONDO:0867387 |
familial mitral valve prolapse |
GARD:3687 |
MONDO:equivalentTo |
Familial mitral valve prolapse |
|
|
MONDO:0867388 |
xq21 microdeletion syndrome |
GARD:369 |
MONDO:equivalentTo |
Xq21 microdeletion syndrome |
|
|
MONDO:0867389 |
melorheostosis with osteopoikilosis |
GARD:3690 |
MONDO:equivalentTo |
Melorheostosis with osteopoikilosis |
|
|
MONDO:0867390 |
syndromic microphthalmia type 5 |
GARD:3692 |
MONDO:equivalentTo |
Syndromic microphthalmia type 5 |
|
|
MONDO:0867391 |
mmep syndrome |
GARD:3693 |
MONDO:equivalentTo |
MMEP syndrome |
|
|
MONDO:0867392 |
mody |
GARD:3697 |
MONDO:equivalentTo |
MODY |
|
|
MONDO:0867393 |
moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome |
GARD:3698 |
MONDO:equivalentTo |
Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome |
|
|
MONDO:0867394 |
fryns syndrome |
GARD:3699 |
MONDO:equivalentTo |
Fryns syndrome |
|
|
MONDO:0867395 |
partial deletion of the short arm of chromosome 3 |
GARD:37 |
MONDO:equivalentTo |
Partial deletion of the short arm of chromosome 3 |
|
|
MONDO:0867396 |
cholestasis-lymphedema syndrome |
GARD:370 |
MONDO:equivalentTo |
Cholestasis-lymphedema syndrome |
|
|
MONDO:0867397 |
orofaciodigital syndrome type 2 |
GARD:3701 |
MONDO:equivalentTo |
Orofaciodigital syndrome type 2 |
|
|
MONDO:0867398 |
choroidal atrophy-alopecia syndrome |
GARD:3704 |
MONDO:equivalentTo |
Choroidal atrophy-alopecia syndrome |
|
|
MONDO:0867399 |
sulfite oxidase deficiency due to molybdenum cofactor deficiency |
GARD:3705 |
MONDO:equivalentTo |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency |
|
|
MONDO:0867400 |
tetramelic monodactyly |
GARD:3707 |
MONDO:equivalentTo |
Tetramelic monodactyly |
|
|
MONDO:0867401 |
qazi-markouizos syndrome |
GARD:371 |
MONDO:equivalentTo |
Qazi-Markouizos syndrome |
|
|
MONDO:0867402 |
distal monosomy 10q |
GARD:3711 |
MONDO:equivalentTo |
Distal monosomy 10q |
|
|
MONDO:0867403 |
neurofibromatosis-noonan syndrome |
GARD:372 |
MONDO:equivalentTo |
Neurofibromatosis-Noonan syndrome |
|
|
MONDO:0867404 |
quinquaud folliculitis decalvans |
GARD:373 |
MONDO:equivalentTo |
Quinquaud folliculitis decalvans |
|
|
MONDO:0867405 |
1q41q42 microdeletion syndrome |
GARD:3738 |
MONDO:equivalentTo |
1q41q42 microdeletion syndrome |
|
|
MONDO:0867406 |
pectus excavatum-macrocephaly-dysplastic nails syndrome |
GARD:374 |
MONDO:equivalentTo |
Pectus excavatum-macrocephaly-dysplastic nails syndrome |
|
|
MONDO:0867407 |
2q24 microdeletion syndrome |
GARD:3746 |
MONDO:equivalentTo |
2q24 microdeletion syndrome |
|
|
MONDO:0867408 |
cleft lip/palate-ectodermal dysplasia syndrome |
GARD:375 |
MONDO:equivalentTo |
Cleft lip/palate-ectodermal dysplasia syndrome |
|
|
MONDO:0867409 |
distal monosomy 3p |
GARD:3750 |
MONDO:equivalentTo |
Distal monosomy 3p |
|
|
MONDO:0867410 |
acheiropodia |
GARD:376 |
MONDO:equivalentTo |
Acheiropodia |
|
|
MONDO:0867411 |
6q25 microdeletion syndrome |
GARD:3764 |
MONDO:equivalentTo |
6q25 microdeletion syndrome |
|
|
MONDO:0867412 |
familial monosomy 7 syndrome |
GARD:3765 |
MONDO:equivalentTo |
Familial monosomy 7 syndrome |
|
|
MONDO:0867413 |
8p23.1 microdeletion syndrome |
GARD:3769 |
MONDO:equivalentTo |
8p23.1 microdeletion syndrome |
|
|
MONDO:0867414 |
congenital absence/hypoplasia of fingers excluding thumb, unilateral |
GARD:377 |
MONDO:equivalentTo |
Congenital absence/hypoplasia of fingers excluding thumb, unilateral |
|
|
MONDO:0867415 |
monosomy 9p |
GARD:3773 |
MONDO:equivalentTo |
Monosomy 9p |
|
|
MONDO:0867416 |
johnson neuroectodermal syndrome |
GARD:378 |
MONDO:equivalentTo |
Johnson neuroectodermal syndrome |
|
|
MONDO:0867417 |
mucopolysaccharidosis type 4a |
GARD:3785 |
MONDO:equivalentTo |
Mucopolysaccharidosis type 4A |
|
|
MONDO:0867418 |
mucopolysaccharidosis type 4b |
GARD:3786 |
MONDO:equivalentTo |
Mucopolysaccharidosis type 4B |
|
|
MONDO:0867419 |
vipoma |
GARD:3787 |
MONDO:equivalentTo |
VIPoma |
|
|
MONDO:0867420 |
lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome |
GARD:3788 |
MONDO:equivalentTo |
Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome |
|
|
MONDO:0867421 |
renal tubular dysgenesis |
GARD:379 |
MONDO:equivalentTo |
Renal tubular dysgenesis |
|
|
MONDO:0867422 |
peripheral motor neuropathy-dysautonomia syndrome |
GARD:3791 |
MONDO:equivalentTo |
Peripheral motor neuropathy-dysautonomia syndrome |
|
|
MONDO:0867423 |
mounier-kühn syndrome |
GARD:3793 |
MONDO:equivalentTo |
Mounier-Kühn syndrome |
|
|
MONDO:0867424 |
spastic ataxia-corneal dystrophy syndrome |
GARD:3795 |
MONDO:equivalentTo |
Spastic ataxia-corneal dystrophy syndrome |
|
|
MONDO:0867425 |
knobloch syndrome |
GARD:380 |
MONDO:equivalentTo |
Knobloch syndrome |
|
|
MONDO:0867426 |
mucolipidosis type iii |
GARD:3806 |
MONDO:equivalentTo |
Mucolipidosis type III |
|
|
MONDO:0867427 |
mucopolysaccharidosis type 3 |
GARD:3807 |
MONDO:equivalentTo |
Mucopolysaccharidosis type 3 |
|
|
MONDO:0867428 |
arachnodactyly-abnormal ossification-intellectual disability syndrome |
GARD:381 |
MONDO:equivalentTo |
Arachnodactyly-abnormal ossification-intellectual disability syndrome |
|
|
MONDO:0867429 |
multicentric carpo-tarsal osteolysis with or without nephropathy |
GARD:3818 |
MONDO:equivalentTo |
Multicentric carpo-tarsal osteolysis with or without nephropathy |
|
|
MONDO:0867430 |
multiple carboxylase deficiency |
GARD:3824 |
MONDO:equivalentTo |
Multiple carboxylase deficiency |
|
|
MONDO:0867431 |
multiple endocrine neoplasia type 1 |
GARD:3829 |
MONDO:equivalentTo |
Multiple endocrine neoplasia type 1 |
|
|
MONDO:0867432 |
albers-schönberg osteopetrosis |
GARD:383 |
MONDO:equivalentTo |
Albers-Schönberg osteopetrosis |
|
|
MONDO:0867433 |
multiple endocrine neoplasia type 2 |
GARD:3830 |
MONDO:equivalentTo |
Multiple endocrine neoplasia type 2 |
|
|
MONDO:0867434 |
lethal multiple pterygium syndrome |
GARD:3834 |
MONDO:equivalentTo |
Lethal multiple pterygium syndrome |
|
|
MONDO:0867435 |
multiple synostoses syndrome |
GARD:3836 |
MONDO:equivalentTo |
Multiple synostoses syndrome |
|
|
MONDO:0867436 |
adult syndrome |
GARD:384 |
MONDO:equivalentTo |
ADULT syndrome |
|
|
MONDO:0867437 |
laminin subunit alpha 2-related congenital muscular dystrophy |
GARD:3843 |
MONDO:equivalentTo |
Laminin subunit alpha 2-related congenital muscular dystrophy |
|
|
MONDO:0867438 |
trim32-related limb-girdle muscular dystrophy r8 |
GARD:3844 |
MONDO:equivalentTo |
TRIM32-related limb-girdle muscular dystrophy R8 |
|
|
MONDO:0867439 |
zimmermann-laband syndrome |
GARD:385 |
MONDO:equivalentTo |
Zimmermann-Laband syndrome |
|
|
MONDO:0867440 |
beta-sarcoglycan-related limb-girdle muscular dystrophy r4 |
GARD:3851 |
MONDO:equivalentTo |
Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 |
|
|
MONDO:0867441 |
becker nevus syndrome |
GARD:3856 |
MONDO:equivalentTo |
Becker nevus syndrome |
|
|
MONDO:0867442 |
glycogen storage disease due to muscle phosphorylase kinase deficiency |
GARD:3858 |
MONDO:equivalentTo |
Glycogen storage disease due to muscle phosphorylase kinase deficiency |
|
|
MONDO:0867443 |
tetraamelia-multiple malformations syndrome |
GARD:386 |
MONDO:equivalentTo |
Tetraamelia-multiple malformations syndrome |
|
|
MONDO:0867444 |
mycetoma |
GARD:3862 |
MONDO:equivalentTo |
Mycetoma |
|
|
MONDO:0867445 |
classic mycosis fungoides |
GARD:3863 |
MONDO:equivalentTo |
Classic mycosis fungoides |
|
|
MONDO:0867446 |
ataxia-pancytopenia syndrome |
GARD:3865 |
MONDO:equivalentTo |
Ataxia-pancytopenia syndrome |
|
|
MONDO:0867447 |
myeloperoxidase deficiency |
GARD:3868 |
MONDO:equivalentTo |
Myeloperoxidase deficiency |
|
|
MONDO:0867448 |
combined immunodeficiency due to zap70 deficiency |
GARD:387 |
MONDO:equivalentTo |
Combined immunodeficiency due to ZAP70 deficiency |
|
|
MONDO:0867449 |
progressive myoclonic epilepsy type 6 |
GARD:3872 |
MONDO:equivalentTo |
Progressive myoclonic epilepsy type 6 |
|
|
MONDO:0867450 |
myoclonus-cerebellar ataxia-deafness syndrome |
GARD:3873 |
MONDO:equivalentTo |
Myoclonus-cerebellar ataxia-deafness syndrome |
|
|
MONDO:0867451 |
spinal muscular atrophy-progressive myoclonic epilepsy syndrome |
GARD:3875 |
MONDO:equivalentTo |
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome |
|
|
MONDO:0867452 |
progressive myoclonic epilepsy type 1 |
GARD:3876 |
MONDO:equivalentTo |
Progressive myoclonic epilepsy type 1 |
|
|
MONDO:0867453 |
myopathy and diabetes mellitus |
GARD:3881 |
MONDO:equivalentTo |
Myopathy and diabetes mellitus |
|
|
MONDO:0867454 |
tubular aggregate myopathy |
GARD:3884 |
MONDO:equivalentTo |
Tubular aggregate myopathy |
|
|
MONDO:0867455 |
mitochondrial myopathy and sideroblastic anemia |
GARD:3885 |
MONDO:equivalentTo |
Mitochondrial myopathy and sideroblastic anemia |
|
|
MONDO:0867456 |
carey-fineman-ziter syndrome |
GARD:3889 |
MONDO:equivalentTo |
Carey-Fineman-Ziter syndrome |
|
|
MONDO:0867457 |
x-linked myopathy with excessive autophagy |
GARD:3892 |
MONDO:equivalentTo |
X-linked myopathy with excessive autophagy |
|
|
MONDO:0867458 |
inclusion body myositis |
GARD:3896 |
MONDO:equivalentTo |
Inclusion body myositis |
|
|
MONDO:0867459 |
wt limb-blood syndrome |
GARD:39 |
MONDO:equivalentTo |
WT limb-blood syndrome |
|
|
MONDO:0867460 |
endosteal hyperostosis, worth type |
GARD:390 |
MONDO:equivalentTo |
Endosteal hyperostosis, Worth type |
|
|
MONDO:0867461 |
n syndrome |
GARD:3902 |
MONDO:equivalentTo |
N syndrome |
|
|
MONDO:0867462 |
alpha-n-acetylgalactosaminidase deficiency type 3 |
GARD:3903 |
MONDO:equivalentTo |
Alpha-N-acetylgalactosaminidase deficiency type 3 |
|
|
MONDO:0867463 |
nijmegen breakage syndrome |
GARD:3904 |
MONDO:equivalentTo |
Nijmegen breakage syndrome |
|
|
MONDO:0867464 |
isolated complex i deficiency |
GARD:3908 |
MONDO:equivalentTo |
Isolated complex I deficiency |
|
|
MONDO:0867465 |
osteomesopyknosis |
GARD:391 |
MONDO:equivalentTo |
Osteomesopyknosis |
|
|
MONDO:0867466 |
naegeli-franceschetti-jadassohn syndrome |
GARD:3912 |
MONDO:equivalentTo |
Naegeli-Franceschetti-Jadassohn syndrome |
|
|
MONDO:0867467 |
isolated growth hormone deficiency type ib |
GARD:3919 |
MONDO:equivalentTo |
Isolated growth hormone deficiency type IB |
|
|
MONDO:0867468 |
isolated growth hormone deficiency type iii |
GARD:3921 |
MONDO:equivalentTo |
Isolated growth hormone deficiency type III |
|
|
MONDO:0867469 |
growth hormone insensitivity syndrome |
GARD:3924 |
MONDO:equivalentTo |
Growth hormone insensitivity syndrome |
|
|
MONDO:0867470 |
nasopalpebral lipoma-coloboma syndrome |
GARD:3927 |
MONDO:equivalentTo |
Nasopalpebral lipoma-coloboma syndrome |
|
|
MONDO:0867471 |
neuronal intestinal pseudoobstruction |
GARD:3928 |
MONDO:equivalentTo |
Neuronal intestinal pseudoobstruction |
|
|
MONDO:0867472 |
nathalie syndrome |
GARD:3929 |
MONDO:equivalentTo |
Nathalie syndrome |
|
|
MONDO:0867473 |
tungiasis |
GARD:393 |
MONDO:equivalentTo |
Tungiasis |
|
|
MONDO:0867474 |
rheumatoid factor-negative polyarticular juvenile idiopathic arthritis |
GARD:3931 |
MONDO:equivalentTo |
Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis |
|
|
MONDO:0867475 |
perlman syndrome |
GARD:3936 |
MONDO:equivalentTo |
Perlman syndrome |
|
|
MONDO:0867476 |
radioulnar synostosis-microcephaly-scoliosis syndrome |
GARD:394 |
MONDO:equivalentTo |
Radioulnar synostosis-microcephaly-scoliosis syndrome |
|
|
MONDO:0867477 |
nephropathy-deafness-hyperparathyroidism syndrome |
GARD:3940 |
MONDO:equivalentTo |
Nephropathy-deafness-hyperparathyroidism syndrome |
|
|
MONDO:0867478 |
nephrosis-deafness-urinary tract-digital malformations syndrome |
GARD:3943 |
MONDO:equivalentTo |
Nephrosis-deafness-urinary tract-digital malformations syndrome |
|
|
MONDO:0867479 |
genetic steroid-resistant nephrotic syndrome |
GARD:3946 |
MONDO:equivalentTo |
Genetic steroid-resistant nephrotic syndrome |
|
|
MONDO:0867480 |
congenital isolated hyperinsulinism |
GARD:3947 |
MONDO:equivalentTo |
Congenital isolated hyperinsulinism |
|
|
MONDO:0867481 |
tremor-nystagmus-duodenal ulcer syndrome |
GARD:3948 |
MONDO:equivalentTo |
Tremor-nystagmus-duodenal ulcer syndrome |
|
|
MONDO:0867482 |
neuhauser-eichner-opitz syndrome |
GARD:3949 |
MONDO:equivalentTo |
Neuhauser-Eichner-Opitz syndrome |
|
|
MONDO:0867483 |
retinal degeneration-nanophthalmos-glaucoma syndrome |
GARD:395 |
MONDO:equivalentTo |
Retinal degeneration-nanophthalmos-glaucoma syndrome |
|
|
MONDO:0867484 |
galactosialidosis |
GARD:3953 |
MONDO:equivalentTo |
Galactosialidosis |
|
|
MONDO:0867485 |
choreoacanthocytosis |
GARD:3956 |
MONDO:equivalentTo |
Choreoacanthocytosis |
|
|
MONDO:0867486 |
infantile neuroaxonal dystrophy |
GARD:3957 |
MONDO:equivalentTo |
Infantile neuroaxonal dystrophy |
|
|
MONDO:0867487 |
tularemia |
GARD:396 |
MONDO:equivalentTo |
Tularemia |
|
|
MONDO:0867488 |
neurofaciodigitorenal syndrome |
GARD:3964 |
MONDO:equivalentTo |
Neurofaciodigitorenal syndrome |
|
|
MONDO:0867489 |
neurofibromatosis type 6 |
GARD:3967 |
MONDO:equivalentTo |
Neurofibromatosis type 6 |
|
|
MONDO:0867490 |
neuronal intranuclear inclusion disease |
GARD:3971 |
MONDO:equivalentTo |
Neuronal intranuclear inclusion disease |
|
|
MONDO:0867491 |
navajo neurohepatopathy |
GARD:3972 |
MONDO:equivalentTo |
Navajo neurohepatopathy |
|
|
MONDO:0867492 |
charcot-marie-tooth disease type 4d |
GARD:3973 |
MONDO:equivalentTo |
Charcot-Marie-Tooth disease type 4D |
|
|
MONDO:0867493 |
hereditary sensory and autonomic neuropathy type 2 |
GARD:3976 |
MONDO:equivalentTo |
Hereditary sensory and autonomic neuropathy type 2 |
|
|
MONDO:0867494 |
neutral lipid storage disease with ichthyosis |
GARD:3979 |
MONDO:equivalentTo |
Neutral lipid storage disease with ichthyosis |
|
|
MONDO:0867495 |
x-linked severe congenital neutropenia |
GARD:3981 |
MONDO:equivalentTo |
X-linked severe congenital neutropenia |
|
|
MONDO:0867496 |
neutropenia-monocytopenia-deafness syndrome |
GARD:3982 |
MONDO:equivalentTo |
Neutropenia-monocytopenia-deafness syndrome |
|
|
MONDO:0867497 |
familial multiple nevi flammei |
GARD:3986 |
MONDO:equivalentTo |
Familial multiple nevi flammei |
|
|
MONDO:0867498 |
46,xx testicular disorder of sex development |
GARD:399 |
MONDO:equivalentTo |
46,XX testicular disorder of sex development |
|
|
MONDO:0867499 |
night blindness-skeletal anomalies-dysmorphism syndrome |
GARD:3994 |
MONDO:equivalentTo |
Night blindness-skeletal anomalies-dysmorphism syndrome |
|
|
MONDO:0867500 |
congenital stationary night blindness |
GARD:3995 |
MONDO:equivalentTo |
Congenital stationary night blindness |
|
|
MONDO:0867501 |
ectopia lentis-chorioretinal dystrophy-myopia syndrome |
GARD:3999 |
MONDO:equivalentTo |
Ectopia lentis-chorioretinal dystrophy-myopia syndrome |
|
|
MONDO:0867502 |
gapo syndrome |
GARD:400 |
MONDO:equivalentTo |
GAPO syndrome |
|
|
MONDO:0867503 |
noma |
GARD:4001 |
MONDO:equivalentTo |
Noma |
|
|
MONDO:0867504 |
maternally-inherited diabetes and deafness |
GARD:4003 |
MONDO:equivalentTo |
Maternally-inherited diabetes and deafness |
|
|
MONDO:0867505 |
progressive epilepsy-intellectual disability syndrome, finnish type |
GARD:4010 |
MONDO:equivalentTo |
Progressive epilepsy-intellectual disability syndrome, Finnish type |
|
|
MONDO:0867506 |
familial lcat deficiency |
GARD:4011 |
MONDO:equivalentTo |
Familial LCAT deficiency |
|
|
MONDO:0867507 |
port-wine nevi-mega cisterna magna-hydrocephalus syndrome |
GARD:4014 |
MONDO:equivalentTo |
Port-wine nevi-mega cisterna magna-hydrocephalus syndrome |
|
|
MONDO:0867508 |
occipital horn syndrome |
GARD:4017 |
MONDO:equivalentTo |
Occipital horn syndrome |
|
|
MONDO:0867509 |
primary tethered cord syndrome |
GARD:4018 |
MONDO:equivalentTo |
Primary tethered cord syndrome |
|
|
MONDO:0867510 |
oculoauriculofrontonasal syndrome |
GARD:4031 |
MONDO:equivalentTo |
Oculoauriculofrontonasal syndrome |
|
|
MONDO:0867511 |
oculocerebral hypopigmentation syndrome, preus type |
GARD:4034 |
MONDO:equivalentTo |
Oculocerebral hypopigmentation syndrome, Preus type |
|
|
MONDO:0867512 |
oculocutaneous albinism type 1 |
GARD:4037 |
MONDO:equivalentTo |
Oculocutaneous albinism type 1 |
|
|
MONDO:0867513 |
oculocutaneous albinism type 2 |
GARD:4038 |
MONDO:equivalentTo |
Oculocutaneous albinism type 2 |
|
|
MONDO:0867514 |
oculocutaneous albinism type 3 |
GARD:4039 |
MONDO:equivalentTo |
Oculocutaneous albinism type 3 |
|
|
MONDO:0867515 |
osteoporosis-oculocutaneous hypopigmentation syndrome |
GARD:404 |
MONDO:equivalentTo |
Osteoporosis-oculocutaneous hypopigmentation syndrome |
|
|
MONDO:0867516 |
oculomaxillofacial dysostosis |
GARD:4046 |
MONDO:equivalentTo |
Oculomaxillofacial dysostosis |
|
|
MONDO:0867517 |
arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome |
GARD:4047 |
MONDO:equivalentTo |
Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome |
|
|
MONDO:0867518 |
subaortic stenosis-short stature syndrome |
GARD:405 |
MONDO:equivalentTo |
Subaortic stenosis-short stature syndrome |
|
|
MONDO:0867519 |
severe oculo-renal-cerebellar syndrome |
GARD:4050 |
MONDO:equivalentTo |
Severe oculo-renal-cerebellar syndrome |
|
|
MONDO:0867520 |
odonto-onycho dysplasia-alopecia syndrome |
GARD:4051 |
MONDO:equivalentTo |
Odonto-onycho dysplasia-alopecia syndrome |
|
|
MONDO:0867521 |
odontomicronychial dysplasia |
GARD:4053 |
MONDO:equivalentTo |
Odontomicronychial dysplasia |
|
|
MONDO:0867522 |
odonto-onycho-dermal dysplasia |
GARD:4054 |
MONDO:equivalentTo |
Odonto-onycho-dermal dysplasia |
|
|
MONDO:0867523 |
foveal hypoplasia-presenile cataract syndrome |
GARD:406 |
MONDO:equivalentTo |
Foveal hypoplasia-presenile cataract syndrome |
|
|
MONDO:0867524 |
orofaciodigital syndrome type 8 |
GARD:4060 |
MONDO:equivalentTo |
Orofaciodigital syndrome type 8 |
|
|
MONDO:0867525 |
orofaciodigital syndrome type 10 |
GARD:4061 |
MONDO:equivalentTo |
Orofaciodigital syndrome type 10 |
|
|
MONDO:0867526 |
infantile-onset spinocerebellar ataxia |
GARD:4062 |
MONDO:equivalentTo |
Infantile-onset spinocerebellar ataxia |
|
|
MONDO:0867527 |
okamoto syndrome |
GARD:4064 |
MONDO:equivalentTo |
Okamoto syndrome |
|
|
MONDO:0867528 |
postaxial tetramelic oligodactyly |
GARD:4065 |
MONDO:equivalentTo |
Postaxial tetramelic oligodactyly |
|
|
MONDO:0867529 |
oligomeganephronia |
GARD:4066 |
MONDO:equivalentTo |
Oligomeganephronia |
|
|
MONDO:0867530 |
oliver syndrome |
GARD:4069 |
MONDO:equivalentTo |
Oliver syndrome |
|
|
MONDO:0867531 |
ermine phenotype |
GARD:407 |
MONDO:equivalentTo |
Ermine phenotype |
|
|
MONDO:0867532 |
olivopontocerebellar atrophy-deafness syndrome |
GARD:4070 |
MONDO:equivalentTo |
Olivopontocerebellar atrophy-deafness syndrome |
|
|
MONDO:0867533 |
spinocerebellar ataxia type 1 |
GARD:4071 |
MONDO:equivalentTo |
Spinocerebellar ataxia type 1 |
|
|
MONDO:0867534 |
spinocerebellar ataxia type 2 |
GARD:4072 |
MONDO:equivalentTo |
Spinocerebellar ataxia type 2 |
|
|
MONDO:0867535 |
mutilating palmoplantar keratoderma with periorificial keratotic plaques |
GARD:4075 |
MONDO:equivalentTo |
Mutilating palmoplantar keratoderma with periorificial keratotic plaques |
|
|
MONDO:0867536 |
autosomal recessive omodysplasia |
GARD:4076 |
MONDO:equivalentTo |
Autosomal recessive omodysplasia |
|
|
MONDO:0867537 |
lethal omphalocele-cleft palate syndrome |
GARD:4079 |
MONDO:equivalentTo |
Lethal omphalocele-cleft palate syndrome |
|
|
MONDO:0867538 |
short stature due to growth hormone qualitative anomaly |
GARD:408 |
MONDO:equivalentTo |
Short stature due to growth hormone qualitative anomaly |
|
|
MONDO:0867539 |
cloacal exstrophy |
GARD:4080 |
MONDO:equivalentTo |
Cloacal exstrophy |
|
|
MONDO:0867540 |
omphalomesenteric cyst |
GARD:4081 |
MONDO:equivalentTo |
Omphalomesenteric cyst |
|
|
MONDO:0867541 |
cooks syndrome |
GARD:4083 |
MONDO:equivalentTo |
Cooks syndrome |
|
|
MONDO:0867542 |
poikiloderma with neutropenia |
GARD:4085 |
MONDO:equivalentTo |
Poikiloderma with neutropenia |
|
|
MONDO:0867543 |
pachygyria-intellectual disability-epilepsy syndrome |
GARD:409 |
MONDO:equivalentTo |
Pachygyria-intellectual disability-epilepsy syndrome |
|
|
MONDO:0867544 |
opsismodysplasia |
GARD:4098 |
MONDO:equivalentTo |
Opsismodysplasia |
|
|
MONDO:0867545 |
renal coloboma syndrome |
GARD:4106 |
MONDO:equivalentTo |
Renal coloboma syndrome |
|
|
MONDO:0867546 |
optic pathway glioma |
GARD:4107 |
MONDO:equivalentTo |
Optic pathway glioma |
|
|
MONDO:0867547 |
sanjad-sakati syndrome |
GARD:411 |
MONDO:equivalentTo |
Sanjad-Sakati syndrome |
|
|
MONDO:0867548 |
oromandibular-limb hypogenesis syndrome |
GARD:4116 |
MONDO:equivalentTo |
Oromandibular-limb hypogenesis syndrome |
|
|
MONDO:0867549 |
orofaciodigital syndrome type 11 |
GARD:4118 |
MONDO:equivalentTo |
Orofaciodigital syndrome type 11 |
|
|
MONDO:0867550 |
x-linked intellectual disability, shashi type |
GARD:4119 |
MONDO:equivalentTo |
X-linked intellectual disability, Shashi type |
|
|
MONDO:0867551 |
cheilitis glandularis |
GARD:412 |
MONDO:equivalentTo |
Cheilitis glandularis |
|
|
MONDO:0867552 |
orofaciodigital syndrome type 5 |
GARD:4120 |
MONDO:equivalentTo |
Orofaciodigital syndrome type 5 |
|
|
MONDO:0867553 |
orofaciodigital syndrome type 1 |
GARD:4121 |
MONDO:equivalentTo |
Orofaciodigital syndrome type 1 |
|
|
MONDO:0867554 |
oslam syndrome |
GARD:4129 |
MONDO:equivalentTo |
OSLAM syndrome |
|
|
MONDO:0867555 |
geroderma osteodysplastica |
GARD:413 |
MONDO:equivalentTo |
Geroderma osteodysplastica |
|
|
MONDO:0867556 |
otospondylomegaepiphyseal dysplasia |
GARD:4130 |
MONDO:equivalentTo |
Otospondylomegaepiphyseal dysplasia |
|
|
MONDO:0867557 |
thiemann disease, familial form |
GARD:4131 |
MONDO:equivalentTo |
Thiemann disease, familial form |
|
|
MONDO:0867558 |
familial osteochondritis dissecans |
GARD:4133 |
MONDO:equivalentTo |
Familial osteochondritis dissecans |
|
|
MONDO:0867559 |
familial osteodysplasia, anderson type |
GARD:4136 |
MONDO:equivalentTo |
Familial osteodysplasia, Anderson type |
|
|
MONDO:0867560 |
congenital osteogenesis imperfecta-microcephaly-cataracts syndrome |
GARD:4139 |
MONDO:equivalentTo |
Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome |
|
|
MONDO:0867561 |
bamforth-lazarus syndrome |
GARD:414 |
MONDO:equivalentTo |
Bamforth-Lazarus syndrome |
|
|
MONDO:0867562 |
osteoglosphonic dysplasia |
GARD:4142 |
MONDO:equivalentTo |
Osteoglosphonic dysplasia |
|
|
MONDO:0867563 |
osteopathia striata-cranial sclerosis syndrome |
GARD:4148 |
MONDO:equivalentTo |
Osteopathia striata-cranial sclerosis syndrome |
|
|
MONDO:0867564 |
pseudoprogeria syndrome |
GARD:415 |
MONDO:equivalentTo |
Pseudoprogeria syndrome |
|
|
MONDO:0867565 |
autosomal dominant osteopetrosis type 1 |
GARD:4151 |
MONDO:equivalentTo |
Autosomal dominant osteopetrosis type 1 |
|
|
MONDO:0867566 |
osteopetrosis with renal tubular acidosis |
GARD:4154 |
MONDO:equivalentTo |
Osteopetrosis with renal tubular acidosis |
|
|
MONDO:0867567 |
osteopetrosis and related disorders |
GARD:4155 |
MONDO:equivalentTo |
Osteopetrosis and related disorders |
|
|
MONDO:0867568 |
intermediate osteopetrosis |
GARD:4156 |
MONDO:equivalentTo |
Intermediate osteopetrosis |
|
|
MONDO:0867569 |
osteoporosis-pseudoglioma syndrome |
GARD:4160 |
MONDO:equivalentTo |
Osteoporosis-pseudoglioma syndrome |
|
|
MONDO:0867570 |
foix-alajouanine syndrome |
GARD:4163 |
MONDO:equivalentTo |
Foix-Alajouanine syndrome |
|
|
MONDO:0867571 |
heart defect-tongue hamartoma-polysyndactyly syndrome |
GARD:4166 |
MONDO:equivalentTo |
Heart defect-tongue hamartoma-polysyndactyly syndrome |
|
|
MONDO:0867572 |
otodental syndrome |
GARD:4168 |
MONDO:equivalentTo |
Otodental syndrome |
|
|
MONDO:0867573 |
otofaciocervical syndrome |
GARD:4169 |
MONDO:equivalentTo |
Otofaciocervical syndrome |
|
|
MONDO:0867574 |
otoonychoperoneal syndrome |
GARD:4170 |
MONDO:equivalentTo |
Otoonychoperoneal syndrome |
|
|
MONDO:0867575 |
benign paroxysmal tonic upgaze of childhood with ataxia |
GARD:4176 |
MONDO:equivalentTo |
Benign paroxysmal tonic upgaze of childhood with ataxia |
|
|
MONDO:0867576 |
pentosuria |
GARD:418 |
MONDO:equivalentTo |
Pentosuria |
|
|
MONDO:0867577 |
overhydrated hereditary stomatocytosis |
GARD:4183 |
MONDO:equivalentTo |
Overhydrated hereditary stomatocytosis |
|
|
MONDO:0867578 |
epiphyseal stippling-osteoclastic hyperplasia syndrome |
GARD:4189 |
MONDO:equivalentTo |
Epiphyseal stippling-osteoclastic hyperplasia syndrome |
|
|
MONDO:0867579 |
extramammary paget disease |
GARD:4192 |
MONDO:equivalentTo |
Extramammary Paget disease |
|
|
MONDO:0867580 |
hydrocephaly-low insertion umbilicus syndrome |
GARD:4199 |
MONDO:equivalentTo |
Hydrocephaly-low insertion umbilicus syndrome |
|
|
MONDO:0867581 |
tetrasomy 9p |
GARD:42 |
MONDO:equivalentTo |
Tetrasomy 9p |
|
|
MONDO:0867582 |
partial pancreatic agenesis |
GARD:4203 |
MONDO:equivalentTo |
Partial pancreatic agenesis |
|
|
MONDO:0867583 |
adenoma of pancreas |
GARD:4204 |
MONDO:equivalentTo |
Adenoma of pancreas |
|
|
MONDO:0867584 |
familial pancreatic carcinoma |
GARD:4206 |
MONDO:equivalentTo |
Familial pancreatic carcinoma |
|
|
MONDO:0867585 |
pancreatoblastoma |
GARD:4210 |
MONDO:equivalentTo |
Pancreatoblastoma |
|
|
MONDO:0867586 |
polyostotic fibrous dysplasia |
GARD:4213 |
MONDO:equivalentTo |
Polyostotic fibrous dysplasia |
|
|
MONDO:0867587 |
papilloma of choroid plexus |
GARD:4214 |
MONDO:equivalentTo |
Papilloma of choroid plexus |
|
|
MONDO:0867588 |
autosomal dominant spastic paraplegia type 17 |
GARD:4219 |
MONDO:equivalentTo |
Autosomal dominant spastic paraplegia type 17 |
|
|
MONDO:0867589 |
parastremmatic dwarfism |
GARD:4222 |
MONDO:equivalentTo |
Parastremmatic dwarfism |
|
|
MONDO:0867590 |
parc syndrome |
GARD:4223 |
MONDO:equivalentTo |
PARC syndrome |
|
|
MONDO:0867591 |
paris-trousseau thrombocytopenia |
GARD:4224 |
MONDO:equivalentTo |
Paris-Trousseau thrombocytopenia |
|
|
MONDO:0867592 |
idiopathic ventricular fibrillation, non brugada type |
GARD:4227 |
MONDO:equivalentTo |
Idiopathic ventricular fibrillation, non Brugada type |
|
|
MONDO:0867593 |
neuralgic amyotrophy |
GARD:4228 |
MONDO:equivalentTo |
Neuralgic amyotrophy |
|
|
MONDO:0867594 |
partial atrioventricular septal defect |
GARD:4229 |
MONDO:equivalentTo |
Partial atrioventricular septal defect |
|
|
MONDO:0867595 |
partington syndrome |
GARD:4235 |
MONDO:equivalentTo |
Partington syndrome |
|
|
MONDO:0867596 |
fetal parvovirus syndrome |
GARD:4236 |
MONDO:equivalentTo |
Fetal parvovirus syndrome |
|
|
MONDO:0867597 |
blepharonasofacial malformation syndrome |
GARD:4238 |
MONDO:equivalentTo |
Blepharonasofacial malformation syndrome |
|
|
MONDO:0867598 |
xk aprosencephaly syndrome |
GARD:424 |
MONDO:equivalentTo |
XK aprosencephaly syndrome |
|
|
MONDO:0867599 |
tufted angioma |
GARD:425 |
MONDO:equivalentTo |
Tufted angioma |
|
|
MONDO:0867600 |
pseudoleprechaunism syndrome, patterson type |
GARD:4259 |
MONDO:equivalentTo |
Pseudoleprechaunism syndrome, Patterson type |
|
|
MONDO:0867601 |
patterson-stevenson-fontaine syndrome |
GARD:4260 |
MONDO:equivalentTo |
Patterson-Stevenson-Fontaine syndrome |
|
|
MONDO:0867602 |
oligoarticular juvenile idiopathic arthritis |
GARD:4261 |
MONDO:equivalentTo |
Oligoarticular juvenile idiopathic arthritis |
|
|
MONDO:0867603 |
peho syndrome |
GARD:4264 |
MONDO:equivalentTo |
PEHO syndrome |
|
|
MONDO:0867604 |
pelizaeus-merzbacher disease |
GARD:4265 |
MONDO:equivalentTo |
Pelizaeus-Merzbacher disease |
|
|
MONDO:0867605 |
pelizaeus-merzbacher-like disease due to aimp1 mutation |
GARD:4266 |
MONDO:equivalentTo |
Pelizaeus-Merzbacher-like disease due to AIMP1 mutation |
|
|
MONDO:0867606 |
pelvic dysplasia-arthrogryposis of lower limbs syndrome |
GARD:4269 |
MONDO:equivalentTo |
Pelvic dysplasia-arthrogryposis of lower limbs syndrome |
|
|
MONDO:0867607 |
ptosis-vocal cord paralysis syndrome |
GARD:427 |
MONDO:equivalentTo |
Ptosis-vocal cord paralysis syndrome |
|
|
MONDO:0867608 |
pendred syndrome |
GARD:4271 |
MONDO:equivalentTo |
Pendred syndrome |
|
|
MONDO:0867609 |
penile agenesis |
GARD:4272 |
MONDO:equivalentTo |
Penile agenesis |
|
|
MONDO:0867610 |
penoscrotal transposition |
GARD:4273 |
MONDO:equivalentTo |
Penoscrotal transposition |
|
|
MONDO:0867611 |
acroosteolysis-keloid-like lesions-premature aging syndrome |
GARD:4276 |
MONDO:equivalentTo |
Acroosteolysis-keloid-like lesions-premature aging syndrome |
|
|
MONDO:0867612 |
craniofrontonasal dysplasia-poland anomaly syndrome |
GARD:428 |
MONDO:equivalentTo |
Craniofrontonasal dysplasia-Poland anomaly syndrome |
|
|
MONDO:0867613 |
constriction rings syndrome |
GARD:429 |
MONDO:equivalentTo |
Constriction rings syndrome |
|
|
MONDO:0867614 |
autosomal recessive distal osteolysis syndrome |
GARD:4299 |
MONDO:equivalentTo |
Autosomal recessive distal osteolysis syndrome |
|
|
MONDO:0867615 |
mosaic trisomy 9 |
GARD:43 |
MONDO:equivalentTo |
Mosaic trisomy 9 |
|
|
MONDO:0867616 |
mesomelia-synostoses syndrome |
GARD:4302 |
MONDO:equivalentTo |
Mesomelia-synostoses syndrome |
|
|
MONDO:0867617 |
deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome |
GARD:4303 |
MONDO:equivalentTo |
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome |
|
|
MONDO:0867618 |
preaxial polydactyly-colobomata-intellectual disability syndrome |
GARD:4304 |
MONDO:equivalentTo |
Preaxial polydactyly-colobomata-intellectual disability syndrome |
|
|
MONDO:0867619 |
pfeiffer-palm-teller syndrome |
GARD:4305 |
MONDO:equivalentTo |
Pfeiffer-Palm-Teller syndrome |
|
|
MONDO:0867620 |
microtia |
GARD:431 |
MONDO:equivalentTo |
Microtia |
|
|
MONDO:0867621 |
phakomatosis pigmentokeratotica |
GARD:4311 |
MONDO:equivalentTo |
Phakomatosis pigmentokeratotica |
|
|
MONDO:0867622 |
phakomatosis pigmentovascularis |
GARD:4312 |
MONDO:equivalentTo |
Phakomatosis pigmentovascularis |
|
|
MONDO:0867623 |
phenobarbital embryopathy |
GARD:4315 |
MONDO:equivalentTo |
Phenobarbital embryopathy |
|
|
MONDO:0867624 |
dihydropteridine reductase deficiency |
GARD:4319 |
MONDO:equivalentTo |
Dihydropteridine reductase deficiency |
|
|
MONDO:0867625 |
phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome |
GARD:4323 |
MONDO:equivalentTo |
Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome |
|
|
MONDO:0867626 |
pgm1-cdg |
GARD:4329 |
MONDO:equivalentTo |
PGM1-CDG |
|
|
MONDO:0867627 |
apparent mineralocorticoid excess |
GARD:433 |
MONDO:equivalentTo |
Apparent mineralocorticoid excess |
|
|
MONDO:0867628 |
pgm3-cdg |
GARD:4331 |
MONDO:equivalentTo |
PGM3-CDG |
|
|
MONDO:0867629 |
phosphoribosylpyrophosphate synthetase superactivity |
GARD:4337 |
MONDO:equivalentTo |
Phosphoribosylpyrophosphate synthetase superactivity |
|
|
MONDO:0867630 |
hydrocephalus with stenosis of the aqueduct of sylvius |
GARD:434 |
MONDO:equivalentTo |
Hydrocephalus with stenosis of the aqueduct of Sylvius |
|
|
MONDO:0867631 |
piebaldism |
GARD:4344 |
MONDO:equivalentTo |
Piebaldism |
|
|
MONDO:0867632 |
autosomal dominant cerebellar ataxia |
GARD:4346 |
MONDO:equivalentTo |
Autosomal dominant cerebellar ataxia |
|
|
MONDO:0867633 |
isolated pierre robin syndrome |
GARD:4347 |
MONDO:equivalentTo |
Isolated Pierre Robin syndrome |
|
|
MONDO:0867634 |
cleft lip-retinopathy syndrome |
GARD:435 |
MONDO:equivalentTo |
Cleft lip-retinopathy syndrome |
|
|
MONDO:0867635 |
late-onset retinal degeneration |
GARD:4357 |
MONDO:equivalentTo |
Late-onset retinal degeneration |
|
|
MONDO:0867636 |
severe combined immunodeficiency due to foxn1 deficiency |
GARD:4358 |
MONDO:equivalentTo |
Severe combined immunodeficiency due to FOXN1 deficiency |
|
|
MONDO:0867637 |
ringed hair disease |
GARD:4359 |
MONDO:equivalentTo |
Ringed hair disease |
|
|
MONDO:0867638 |
adult-onset still disease |
GARD:436 |
MONDO:equivalentTo |
Adult-onset Still disease |
|
|
MONDO:0867639 |
pili torti |
GARD:4361 |
MONDO:equivalentTo |
Pili torti |
|
|
MONDO:0867640 |
pili torti-developmental delay-neurological abnormalities syndrome |
GARD:4362 |
MONDO:equivalentTo |
Pili torti-developmental delay-neurological abnormalities syndrome |
|
|
MONDO:0867641 |
pili torti-onychodysplasia syndrome |
GARD:4364 |
MONDO:equivalentTo |
Pili torti-onychodysplasia syndrome |
|
|
MONDO:0867642 |
ophthalmomandibulomelic dysplasia |
GARD:4365 |
MONDO:equivalentTo |
Ophthalmomandibulomelic dysplasia |
|
|
MONDO:0867643 |
trichodermodysplasia-dental alterations syndrome |
GARD:4369 |
MONDO:equivalentTo |
Trichodermodysplasia-dental alterations syndrome |
|
|
MONDO:0867644 |
pitt-hopkins syndrome |
GARD:4372 |
MONDO:equivalentTo |
Pitt-Hopkins syndrome |
|
|
MONDO:0867645 |
thumb stiffness-brachydactyly-intellectual disability syndrome |
GARD:4375 |
MONDO:equivalentTo |
Thumb stiffness-brachydactyly-intellectual disability syndrome |
|
|
MONDO:0867646 |
alpha-sarcoglycan-related limb-girdle muscular dystrophy r3 |
GARD:438 |
MONDO:equivalentTo |
Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 |
|
|
MONDO:0867647 |
hypoplasminogenemia |
GARD:4380 |
MONDO:equivalentTo |
Hypoplasminogenemia |
|
|
MONDO:0867648 |
congenital plasminogen activator inhibitor type 1 deficiency |
GARD:4381 |
MONDO:equivalentTo |
Congenital plasminogen activator inhibitor type 1 deficiency |
|
|
MONDO:0867649 |
platyspondylic dysplasia, torrance type |
GARD:4382 |
MONDO:equivalentTo |
Platyspondylic dysplasia, Torrance type |
|
|
MONDO:0867650 |
pneumocystosis |
GARD:4386 |
MONDO:equivalentTo |
Pneumocystosis |
|
|
MONDO:0867651 |
kindler epidermolysis bullosa |
GARD:4391 |
MONDO:equivalentTo |
Kindler epidermolysis bullosa |
|
|
MONDO:0867652 |
rothmund-thomson syndrome |
GARD:4392 |
MONDO:equivalentTo |
Rothmund-Thomson syndrome |
|
|
MONDO:0867653 |
haim-munk syndrome |
GARD:44 |
MONDO:equivalentTo |
Haim-Munk syndrome |
|
|
MONDO:0867654 |
non-syndromic polydactyly |
GARD:4410 |
MONDO:equivalentTo |
Non-syndromic polydactyly |
|
|
MONDO:0867655 |
orofaciodigital syndrome type 6 |
GARD:4412 |
MONDO:equivalentTo |
Orofaciodigital syndrome type 6 |
|
|
MONDO:0867656 |
polydactyly-myopia syndrome |
GARD:4413 |
MONDO:equivalentTo |
Polydactyly-myopia syndrome |
|
|
MONDO:0867657 |
polydactyly of a biphalangeal thumb |
GARD:4417 |
MONDO:equivalentTo |
Polydactyly of a biphalangeal thumb |
|
|
MONDO:0867658 |
catecholaminergic polymorphic ventricular tachycardia |
GARD:4421 |
MONDO:equivalentTo |
Catecholaminergic polymorphic ventricular tachycardia |
|
|
MONDO:0867659 |
polyneuropathy-intellectual disability-acromicria-premature menopause syndrome |
GARD:4424 |
MONDO:equivalentTo |
Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome |
|
|
MONDO:0867660 |
cronkhite-canada syndrome |
GARD:4427 |
MONDO:equivalentTo |
Cronkhite-Canada syndrome |
|
|
MONDO:0867661 |
polysyndactyly-cardiac malformation syndrome |
GARD:4428 |
MONDO:equivalentTo |
Polysyndactyly-cardiac malformation syndrome |
|
|
MONDO:0867662 |
syndactyly type 4 |
GARD:4434 |
MONDO:equivalentTo |
Syndactyly type 4 |
|
|
MONDO:0867663 |
bartsocas-papas syndrome |
GARD:4436 |
MONDO:equivalentTo |
Bartsocas-Papas syndrome |
|
|
MONDO:0867664 |
porencephaly-cerebellar hypoplasia-internal malformations syndrome |
GARD:4437 |
MONDO:equivalentTo |
Porencephaly-cerebellar hypoplasia-internal malformations syndrome |
|
|
MONDO:0867665 |
porokeratosis of mibelli |
GARD:4438 |
MONDO:equivalentTo |
Porokeratosis of Mibelli |
|
|
MONDO:0867666 |
punctate palmoplantar keratoderma type 2 |
GARD:4439 |
MONDO:equivalentTo |
Punctate palmoplantar keratoderma type 2 |
|
|
MONDO:0867667 |
congenital erythropoietic porphyria |
GARD:4446 |
MONDO:equivalentTo |
Congenital erythropoietic porphyria |
|
|
MONDO:0867668 |
postpoliomyelitis syndrome |
GARD:4454 |
MONDO:equivalentTo |
Postpoliomyelitis syndrome |
|
|
MONDO:0867669 |
posterior uveitis |
GARD:4457 |
MONDO:equivalentTo |
Posterior uveitis |
|
|
MONDO:0867670 |
potassium-aggravated myotonia |
GARD:4459 |
MONDO:equivalentTo |
Potassium-aggravated myotonia |
|
|
MONDO:0867671 |
phaver syndrome |
GARD:4465 |
MONDO:equivalentTo |
PHAVER syndrome |
|
|
MONDO:0867672 |
guttmacher syndrome |
GARD:4470 |
MONDO:equivalentTo |
Guttmacher syndrome |
|
|
MONDO:0867673 |
familial male-limited precocious puberty |
GARD:4475 |
MONDO:equivalentTo |
Familial male-limited precocious puberty |
|
|
MONDO:0867674 |
congenital prekallikrein deficiency |
GARD:4477 |
MONDO:equivalentTo |
Congenital prekallikrein deficiency |
|
|
MONDO:0867675 |
vici syndrome |
GARD:448 |
MONDO:equivalentTo |
Vici syndrome |
|
|
MONDO:0867676 |
x-linked intellectual disability-dysmorphism-cerebral atrophy syndrome |
GARD:4482 |
MONDO:equivalentTo |
X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome |
|
|
MONDO:0867677 |
griscelli syndrome type 2 |
GARD:4483 |
MONDO:equivalentTo |
Griscelli syndrome type 2 |
|
|
MONDO:0867678 |
primary ciliary dyskinesia |
GARD:4484 |
MONDO:equivalentTo |
Primary ciliary dyskinesia |
|
|
MONDO:0867679 |
juvenile primary lateral sclerosis |
GARD:4485 |
MONDO:equivalentTo |
Juvenile primary lateral sclerosis |
|
|
MONDO:0867680 |
intellectual disability-cataracts-calcified pinnae-myopathy syndrome |
GARD:4488 |
MONDO:equivalentTo |
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome |
|
|
MONDO:0867681 |
progeria-short stature-pigmented nevi syndrome |
GARD:4494 |
MONDO:equivalentTo |
Progeria-short stature-pigmented nevi syndrome |
|
|
MONDO:0867682 |
progeroid syndrome, petty type |
GARD:4497 |
MONDO:equivalentTo |
Progeroid syndrome, Petty type |
|
|
MONDO:0867683 |
congenital varicella syndrome |
GARD:45 |
MONDO:equivalentTo |
Congenital varicella syndrome |
|
|
MONDO:0867684 |
acromelanosis |
GARD:4500 |
MONDO:equivalentTo |
Acromelanosis |
|
|
MONDO:0867685 |
progressive external ophthalmoplegia |
GARD:4503 |
MONDO:equivalentTo |
Progressive external ophthalmoplegia |
|
|
MONDO:0867686 |
atypical progressive supranuclear palsy syndrome |
GARD:4507 |
MONDO:equivalentTo |
Atypical progressive supranuclear palsy syndrome |
|
|
MONDO:0867687 |
prolactinoma |
GARD:4508 |
MONDO:equivalentTo |
Prolactinoma |
|
|
MONDO:0867688 |
proliferating trichilemmal cyst |
GARD:4509 |
MONDO:equivalentTo |
Proliferating trichilemmal cyst |
|
|
MONDO:0867689 |
properdin deficiency |
GARD:4513 |
MONDO:equivalentTo |
Properdin deficiency |
|
|
MONDO:0867690 |
aprosencephaly cerebellar dysgenesis |
GARD:4518 |
MONDO:equivalentTo |
Aprosencephaly cerebellar dysgenesis |
|
|
MONDO:0867691 |
familial prostate cancer |
GARD:4520 |
MONDO:equivalentTo |
Familial prostate cancer |
|
|
MONDO:0867692 |
transcobalamin i deficiency |
GARD:4522 |
MONDO:equivalentTo |
Transcobalamin I deficiency |
|
|
MONDO:0867693 |
autosomal erythropoietic protoporphyria |
GARD:4527 |
MONDO:equivalentTo |
Autosomal erythropoietic protoporphyria |
|
|
MONDO:0867694 |
corpus callosum agenesis-abnormal genitalia syndrome |
GARD:4528 |
MONDO:equivalentTo |
Corpus callosum agenesis-abnormal genitalia syndrome |
|
|
MONDO:0867695 |
acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome |
GARD:453 |
MONDO:equivalentTo |
Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome |
|
|
MONDO:0867696 |
proximal spinal muscular atrophy |
GARD:4531 |
MONDO:equivalentTo |
Proximal spinal muscular atrophy |
|
|
MONDO:0867697 |
pseudopelade of brocq |
GARD:4536 |
MONDO:equivalentTo |
Pseudopelade of Brocq |
|
|
MONDO:0867698 |
bifunctional enzyme deficiency |
GARD:4539 |
MONDO:equivalentTo |
Bifunctional enzyme deficiency |
|
|
MONDO:0867699 |
accessory pancreas |
GARD:454 |
MONDO:equivalentTo |
Accessory pancreas |
|
|
MONDO:0867700 |
pseudoachondroplasia |
GARD:4540 |
MONDO:equivalentTo |
Pseudoachondroplasia |
|
|
MONDO:0867701 |
peroxisomal acyl-coa oxidase deficiency |
GARD:4543 |
MONDO:equivalentTo |
Peroxisomal acyl-CoA oxidase deficiency |
|
|
MONDO:0867702 |
pseudoaminopterin syndrome |
GARD:4544 |
MONDO:equivalentTo |
Pseudoaminopterin syndrome |
|
|
MONDO:0867703 |
disorder of sex development-intellectual disability syndrome |
GARD:4550 |
MONDO:equivalentTo |
Disorder of sex development-intellectual disability syndrome |
|
|
MONDO:0867704 |
generalized pseudohypoaldosteronism type 1 |
GARD:4552 |
MONDO:equivalentTo |
Generalized pseudohypoaldosteronism type 1 |
|
|
MONDO:0867705 |
pseudohypoaldosteronism type 2 |
GARD:4553 |
MONDO:equivalentTo |
Pseudohypoaldosteronism type 2 |
|
|
MONDO:0867706 |
acrootoocular syndrome |
GARD:4559 |
MONDO:equivalentTo |
Acrootoocular syndrome |
|
|
MONDO:0867707 |
achalasia-microcephaly syndrome |
GARD:456 |
MONDO:equivalentTo |
Achalasia-microcephaly syndrome |
|
|
MONDO:0867708 |
idiopathic intracranial hypertension |
GARD:4561 |
MONDO:equivalentTo |
Idiopathic intracranial hypertension |
|
|
MONDO:0867709 |
pterygium colli-intellectual disability-digital anomalies syndrome |
GARD:4568 |
MONDO:equivalentTo |
Pterygium colli-intellectual disability-digital anomalies syndrome |
|
|
MONDO:0867710 |
familial pterygium of the conjunctiva |
GARD:4569 |
MONDO:equivalentTo |
Familial pterygium of the conjunctiva |
|
|
MONDO:0867711 |
triple a syndrome |
GARD:457 |
MONDO:equivalentTo |
Triple A syndrome |
|
|
MONDO:0867712 |
antecubital pterygium syndrome |
GARD:4570 |
MONDO:equivalentTo |
Antecubital pterygium syndrome |
|
|
MONDO:0867713 |
x-linked lethal multiple pterygium syndrome |
GARD:4573 |
MONDO:equivalentTo |
X-linked lethal multiple pterygium syndrome |
|
|
MONDO:0867714 |
ptosis-strabismus-ectopic pupils syndrome |
GARD:4577 |
MONDO:equivalentTo |
Ptosis-strabismus-ectopic pupils syndrome |
|
|
MONDO:0867715 |
spondylometaphyseal dysplasia, a4 type |
GARD:458 |
MONDO:equivalentTo |
Spondylometaphyseal dysplasia, A4 type |
|
|
MONDO:0867716 |
hereditary pulmonary alveolar proteinosis |
GARD:4582 |
MONDO:equivalentTo |
Hereditary pulmonary alveolar proteinosis |
|
|
MONDO:0867717 |
pulmonary arteriovenous malformation |
GARD:4584 |
MONDO:equivalentTo |
Pulmonary arteriovenous malformation |
|
|
MONDO:0867718 |
abnormal origin of right or left pulmonary artery from the aorta |
GARD:4586 |
MONDO:equivalentTo |
Abnormal origin of right or left pulmonary artery from the aorta |
|
|
MONDO:0867719 |
pulmonary atresia with ventricular septal defect |
GARD:4588 |
MONDO:equivalentTo |
Pulmonary atresia with ventricular septal defect |
|
|
MONDO:0867720 |
peripheral pulmonary stenosis |
GARD:4589 |
MONDO:equivalentTo |
Peripheral pulmonary stenosis |
|
|
MONDO:0867721 |
achondrogenesis type 1a |
GARD:459 |
MONDO:equivalentTo |
Achondrogenesis type 1A |
|
|
MONDO:0867722 |
congenital pulmonary sequestration |
GARD:4593 |
MONDO:equivalentTo |
Congenital pulmonary sequestration |
|
|
MONDO:0867723 |
supravalvular pulmonary stenosis |
GARD:4594 |
MONDO:equivalentTo |
Supravalvular pulmonary stenosis |
|
|
MONDO:0867724 |
pulmonary valve agenesis |
GARD:4597 |
MONDO:equivalentTo |
Pulmonary valve agenesis |
|
|
MONDO:0867725 |
congenital pulmonary veins atresia or stenosis |
GARD:4598 |
MONDO:equivalentTo |
Congenital pulmonary veins atresia or stenosis |
|
|
MONDO:0867726 |
congenital pulmonary venous return anomaly |
GARD:4599 |
MONDO:equivalentTo |
Congenital pulmonary venous return anomaly |
|
|
MONDO:0867727 |
achondrogenesis type 1b |
GARD:460 |
MONDO:equivalentTo |
Achondrogenesis type 1B |
|
|
MONDO:0867728 |
pulmonary atresia-intact ventricular septum syndrome |
GARD:4600 |
MONDO:equivalentTo |
Pulmonary atresia-intact ventricular septum syndrome |
|
|
MONDO:0867729 |
punctate acrokeratoderma freckle-like pigmentation |
GARD:4603 |
MONDO:equivalentTo |
Punctate acrokeratoderma freckle-like pigmentation |
|
|
MONDO:0867730 |
purine nucleoside phosphorylase deficiency |
GARD:4606 |
MONDO:equivalentTo |
Purine nucleoside phosphorylase deficiency |
|
|
MONDO:0867731 |
immune-mediated thrombotic thrombocytopenic purpura |
GARD:4607 |
MONDO:equivalentTo |
Immune-mediated thrombotic thrombocytopenic purpura |
|
|
MONDO:0867732 |
pyknoachondrogenesis |
GARD:4610 |
MONDO:equivalentTo |
Pyknoachondrogenesis |
|
|
MONDO:0867733 |
pycnodysostosis |
GARD:4611 |
MONDO:equivalentTo |
Pycnodysostosis |
|
|
MONDO:0867734 |
pyle disease |
GARD:4612 |
MONDO:equivalentTo |
Pyle disease |
|
|
MONDO:0867735 |
pyomyositis |
GARD:4614 |
MONDO:equivalentTo |
Pyomyositis |
|
|
MONDO:0867736 |
pyruvate dehydrogenase e1-alpha deficiency |
GARD:4620 |
MONDO:equivalentTo |
Pyruvate dehydrogenase E1-alpha deficiency |
|
|
MONDO:0867737 |
radial ray hypoplasia-choanal atresia syndrome |
GARD:4627 |
MONDO:equivalentTo |
Radial ray hypoplasia-choanal atresia syndrome |
|
|
MONDO:0867738 |
oculofaciocardiodental syndrome |
GARD:4628 |
MONDO:equivalentTo |
Oculofaciocardiodental syndrome |
|
|
MONDO:0867739 |
absent radius-anogenital anomalies syndrome |
GARD:4633 |
MONDO:equivalentTo |
Absent radius-anogenital anomalies syndrome |
|
|
MONDO:0867740 |
leukocyte adhesion deficiency type ii |
GARD:4634 |
MONDO:equivalentTo |
Leukocyte adhesion deficiency type II |
|
|
MONDO:0867741 |
retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome |
GARD:4635 |
MONDO:equivalentTo |
Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome |
|
|
MONDO:0867742 |
ramos-arroyo syndrome |
GARD:4636 |
MONDO:equivalentTo |
Ramos-Arroyo syndrome |
|
|
MONDO:0867743 |
rapadilino syndrome |
GARD:4637 |
MONDO:equivalentTo |
RAPADILINO syndrome |
|
|
MONDO:0867744 |
external auditory canal atresia-vertical talus-hypertelorism syndrome |
GARD:4638 |
MONDO:equivalentTo |
External auditory canal atresia-vertical talus-hypertelorism syndrome |
|
|
MONDO:0867745 |
ichthyosis-intellectual disability-dwarfism-renal impairment syndrome |
GARD:4641 |
MONDO:equivalentTo |
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome |
|
|
MONDO:0867746 |
ataxia-deafness-intellectual disability syndrome |
GARD:4644 |
MONDO:equivalentTo |
Ataxia-deafness-intellectual disability syndrome |
|
|
MONDO:0867747 |
complex regional pain syndrome |
GARD:4647 |
MONDO:equivalentTo |
Complex regional pain syndrome |
|
|
MONDO:0867748 |
infantile refsum disease |
GARD:4648 |
MONDO:equivalentTo |
Infantile Refsum disease |
|
|
MONDO:0867749 |
isovaleric acidemia |
GARD:465 |
MONDO:equivalentTo |
Isovaleric acidemia |
|
|
MONDO:0867750 |
renal caliceal diverticuli-deafness syndrome |
GARD:4655 |
MONDO:equivalentTo |
Renal caliceal diverticuli-deafness syndrome |
|
|
MONDO:0867751 |
nphp3-related meckel-like syndrome |
GARD:4665 |
MONDO:equivalentTo |
NPHP3-related Meckel-like syndrome |
|
|
MONDO:0867752 |
autosomal recessive distal renal tubular acidosis |
GARD:4666 |
MONDO:equivalentTo |
Autosomal recessive distal renal tubular acidosis |
|
|
MONDO:0867753 |
distal renal tubular acidosis |
GARD:4667 |
MONDO:equivalentTo |
Distal renal tubular acidosis |
|
|
MONDO:0867754 |
autosomal dominant distal renal tubular acidosis |
GARD:4668 |
MONDO:equivalentTo |
Autosomal dominant distal renal tubular acidosis |
|
|
MONDO:0867755 |
propionic acidemia |
GARD:467 |
MONDO:equivalentTo |
Propionic acidemia |
|
|
MONDO:0867756 |
x-linked retinal dysplasia |
GARD:4680 |
MONDO:equivalentTo |
X-linked retinal dysplasia |
|
|
MONDO:0867757 |
retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome |
GARD:4683 |
MONDO:equivalentTo |
Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome |
|
|
MONDO:0867758 |
pyramidal molars-abnormal upper lip syndrome |
GARD:469 |
MONDO:equivalentTo |
Pyramidal molars-abnormal upper lip syndrome |
|
|
MONDO:0867759 |
x-linked retinoschisis |
GARD:4690 |
MONDO:equivalentTo |
X-linked retinoschisis |
|
|
MONDO:0867760 |
atypical rett syndrome |
GARD:4694 |
MONDO:equivalentTo |
Atypical Rett syndrome |
|
|
MONDO:0867761 |
revesz syndrome |
GARD:4695 |
MONDO:equivalentTo |
Revesz syndrome |
|
|
MONDO:0867762 |
reynolds syndrome |
GARD:4697 |
MONDO:equivalentTo |
Reynolds syndrome |
|
|
MONDO:0867763 |
crigler-najjar syndrome type 1 |
GARD:47 |
MONDO:equivalentTo |
Crigler-Najjar syndrome type 1 |
|
|
MONDO:0867764 |
alveolar rhabdomyosarcoma |
GARD:4701 |
MONDO:equivalentTo |
Alveolar rhabdomyosarcoma |
|
|
MONDO:0867765 |
embryonal rhabdomyosarcoma |
GARD:4702 |
MONDO:equivalentTo |
Embryonal rhabdomyosarcoma |
|
|
MONDO:0867766 |
rhizomelic dysplasia, patterson-lowry type |
GARD:4703 |
MONDO:equivalentTo |
Rhizomelic dysplasia, Patterson-Lowry type |
|
|
MONDO:0867767 |
polymyalgia rheumatica |
GARD:4704 |
MONDO:equivalentTo |
Polymyalgia rheumatica |
|
|
MONDO:0867768 |
rhizomelic syndrome, urbach type |
GARD:4705 |
MONDO:equivalentTo |
Rhizomelic syndrome, Urbach type |
|
|
MONDO:0867769 |
richieri costa-da silva syndrome |
GARD:4709 |
MONDO:equivalentTo |
Richieri Costa-da Silva syndrome |
|
|
MONDO:0867770 |
richieri costa-pereira syndrome |
GARD:4718 |
MONDO:equivalentTo |
Richieri Costa-Pereira syndrome |
|
|
MONDO:0867771 |
isolated right ventricular hypoplasia |
GARD:4721 |
MONDO:equivalentTo |
Isolated right ventricular hypoplasia |
|
|
MONDO:0867772 |
8q22.1 microdeletion syndrome |
GARD:4722 |
MONDO:equivalentTo |
8q22.1 microdeletion syndrome |
|
|
MONDO:0867773 |
rigid spine syndrome |
GARD:4723 |
MONDO:equivalentTo |
Rigid spine syndrome |
|
|
MONDO:0867774 |
ring chromosome 17 syndrome |
GARD:4724 |
MONDO:equivalentTo |
Ring chromosome 17 syndrome |
|
|
MONDO:0867775 |
robin sequence-oligodactyly syndrome |
GARD:4729 |
MONDO:equivalentTo |
Robin sequence-oligodactyly syndrome |
|
|
MONDO:0867776 |
autosomal dominant deafness-onychodystrophy syndrome |
GARD:4732 |
MONDO:equivalentTo |
Autosomal dominant deafness-onychodystrophy syndrome |
|
|
MONDO:0867777 |
roch-leri mesosomatous lipomatosis |
GARD:4733 |
MONDO:equivalentTo |
Roch-Leri mesosomatous lipomatosis |
|
|
MONDO:0867778 |
mayer-rokitansky-küster-hauser syndrome type 1 |
GARD:4737 |
MONDO:equivalentTo |
Mayer-Rokitansky-Küster-Hauser syndrome type 1 |
|
|
MONDO:0867779 |
rombo syndrome |
GARD:4738 |
MONDO:equivalentTo |
Rombo syndrome |
|
|
MONDO:0867780 |
ulna metaphyseal dysplasia syndrome |
GARD:4740 |
MONDO:equivalentTo |
Ulna metaphyseal dysplasia syndrome |
|
|
MONDO:0867781 |
roussy-lévy syndrome |
GARD:4741 |
MONDO:equivalentTo |
Roussy-Lévy syndrome |
|
|
MONDO:0867782 |
congenital rubella syndrome |
GARD:4744 |
MONDO:equivalentTo |
Congenital rubella syndrome |
|
|
MONDO:0867783 |
ruvalcaba syndrome |
GARD:4748 |
MONDO:equivalentTo |
Ruvalcaba syndrome |
|
|
MONDO:0867784 |
acquired prothrombin deficiency |
GARD:475 |
MONDO:equivalentTo |
Acquired prothrombin deficiency |
|
|
MONDO:0867785 |
kousseff syndrome |
GARD:4752 |
MONDO:equivalentTo |
Kousseff syndrome |
|
|
MONDO:0867786 |
salla disease |
GARD:4754 |
MONDO:equivalentTo |
Salla disease |
|
|
MONDO:0867787 |
acquired ichthyosis |
GARD:476 |
MONDO:equivalentTo |
Acquired ichthyosis |
|
|
MONDO:0867788 |
benign schwannoma |
GARD:4767 |
MONDO:equivalentTo |
Benign schwannoma |
|
|
MONDO:0867789 |
schwannomatosis |
GARD:4768 |
MONDO:equivalentTo |
Schwannomatosis |
|
|
MONDO:0867790 |
congenital muscular dystrophy, ullrich type |
GARD:4769 |
MONDO:equivalentTo |
Congenital muscular dystrophy, Ullrich type |
|
|
MONDO:0867791 |
sclerosteosis |
GARD:4771 |
MONDO:equivalentTo |
Sclerosteosis |
|
|
MONDO:0867792 |
succinyl-coa:3-oxoacid coa transferase deficiency |
GARD:4774 |
MONDO:equivalentTo |
Succinyl-CoA:3-oxoacid CoA transferase deficiency |
|
|
MONDO:0867793 |
aarskog-scott syndrome |
GARD:4775 |
MONDO:equivalentTo |
Aarskog-Scott syndrome |
|
|
MONDO:0867794 |
craniodigital-intellectual disability syndrome |
GARD:4776 |
MONDO:equivalentTo |
Craniodigital-intellectual disability syndrome |
|
|
MONDO:0867795 |
scott syndrome |
GARD:4777 |
MONDO:equivalentTo |
Scott syndrome |
|
|
MONDO:0867796 |
facial dysmorphism-shawl scrotum-joint laxity syndrome |
GARD:4778 |
MONDO:equivalentTo |
Facial dysmorphism-shawl scrotum-joint laxity syndrome |
|
|
MONDO:0867797 |
testicular seminomatous germ cell tumor |
GARD:4792 |
MONDO:equivalentTo |
Testicular seminomatous germ cell tumor |
|
|
MONDO:0867798 |
isolated cytochrome c oxidase deficiency |
GARD:48 |
MONDO:equivalentTo |
Isolated cytochrome C oxidase deficiency |
|
|
MONDO:0867799 |
acro-renal-mandibular syndrome |
GARD:480 |
MONDO:equivalentTo |
Acro-renal-mandibular syndrome |
|
|
MONDO:0867800 |
spontaneous periodic hypothermia |
GARD:4815 |
MONDO:equivalentTo |
Spontaneous periodic hypothermia |
|
|
MONDO:0867801 |
shigellosis |
GARD:4818 |
MONDO:equivalentTo |
Shigellosis |
|
|
MONDO:0867802 |
short chain acyl-coa dehydrogenase deficiency |
GARD:4822 |
MONDO:equivalentTo |
Short chain acyl-CoA dehydrogenase deficiency |
|
|
MONDO:0867803 |
short rib-polydactyly syndrome, beemer-langer type |
GARD:4832 |
MONDO:equivalentTo |
Short rib-polydactyly syndrome, Beemer-Langer type |
|
|
MONDO:0867804 |
short rib-polydactyly syndrome, majewski type |
GARD:4833 |
MONDO:equivalentTo |
Short rib-polydactyly syndrome, Majewski type |
|
|
MONDO:0867805 |
short rib-polydactyly syndrome, saldino-noonan type |
GARD:4834 |
MONDO:equivalentTo |
Short rib-polydactyly syndrome, Saldino-Noonan type |
|
|
MONDO:0867806 |
short rib-polydactyly syndrome, verma-naumoff type |
GARD:4835 |
MONDO:equivalentTo |
Short rib-polydactyly syndrome, Verma-Naumoff type |
|
|
MONDO:0867807 |
short stature, brussels type |
GARD:4838 |
MONDO:equivalentTo |
Short stature, Brussels type |
|
|
MONDO:0867808 |
acrofrontofacionasal dysostosis |
GARD:484 |
MONDO:equivalentTo |
Acrofrontofacionasal dysostosis |
|
|
MONDO:0867809 |
short stature-deafness-neutrophil dysfunction-dysmorphism syndrome |
GARD:4841 |
MONDO:equivalentTo |
Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome |
|
|
MONDO:0867810 |
short stature-wormian bones-dextrocardia syndrome |
GARD:4856 |
MONDO:equivalentTo |
Short stature-wormian bones-dextrocardia syndrome |
|
|
MONDO:0867811 |
shprintzen-goldberg syndrome |
GARD:4861 |
MONDO:equivalentTo |
Shprintzen-Goldberg syndrome |
|
|
MONDO:0867812 |
shwachman-diamond syndrome |
GARD:4863 |
MONDO:equivalentTo |
Shwachman-Diamond syndrome |
|
|
MONDO:0867813 |
sialuria |
GARD:4865 |
MONDO:equivalentTo |
Sialuria |
|
|
MONDO:0867814 |
siegler-brewer-carey syndrome |
GARD:4867 |
MONDO:equivalentTo |
Siegler-Brewer-Carey syndrome |
|
|
MONDO:0867815 |
sillence syndrome |
GARD:4869 |
MONDO:equivalentTo |
Sillence syndrome |
|
|
MONDO:0867816 |
silver-russell syndrome |
GARD:4870 |
MONDO:equivalentTo |
Silver-Russell syndrome |
|
|
MONDO:0867817 |
flat face-microstomia-ear anomaly syndrome |
GARD:4873 |
MONDO:equivalentTo |
Flat face-microstomia-ear anomaly syndrome |
|
|
MONDO:0867818 |
multiple endocrine neoplasia type 2a |
GARD:4881 |
MONDO:equivalentTo |
Multiple endocrine neoplasia type 2A |
|
|
MONDO:0867819 |
situs inversus totalis |
GARD:4883 |
MONDO:equivalentTo |
Situs inversus totalis |
|
|
MONDO:0867820 |
mononen-karnes-senac syndrome |
GARD:4886 |
MONDO:equivalentTo |
Mononen-Karnes-Senac syndrome |
|
|
MONDO:0867821 |
leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome |
GARD:4891 |
MONDO:equivalentTo |
Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome |
|
|
MONDO:0867822 |
soft tissue sarcoma |
GARD:4898 |
MONDO:equivalentTo |
Soft tissue sarcoma |
|
|
MONDO:0867823 |
male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome |
GARD:4899 |
MONDO:equivalentTo |
Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome |
|
|
MONDO:0867824 |
de barsy syndrome |
GARD:49 |
MONDO:equivalentTo |
De Barsy syndrome |
|
|
MONDO:0867825 |
somatostatinoma |
GARD:4900 |
MONDO:equivalentTo |
Somatostatinoma |
|
|
MONDO:0867826 |
congenital heart defect-round face-developmental delay syndrome |
GARD:4905 |
MONDO:equivalentTo |
Congenital heart defect-round face-developmental delay syndrome |
|
|
MONDO:0867827 |
acrodysplasia scoliosis |
GARD:491 |
MONDO:equivalentTo |
Acrodysplasia scoliosis |
|
|
MONDO:0867828 |
autosomal recessive spastic ataxia of charlevoix-saguenay |
GARD:4910 |
MONDO:equivalentTo |
Autosomal recessive spastic ataxia of Charlevoix-Saguenay |
|
|
MONDO:0867829 |
infantile-onset ascending hereditary spastic paralysis |
GARD:4914 |
MONDO:equivalentTo |
Infantile-onset ascending hereditary spastic paralysis |
|
|
MONDO:0867830 |
spastic paraplegia-precocious puberty syndrome |
GARD:4918 |
MONDO:equivalentTo |
Spastic paraplegia-precocious puberty syndrome |
|
|
MONDO:0867831 |
autosomal recessive spastic paraplegia type 11 |
GARD:4919 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 11 |
|
|
MONDO:0867832 |
spastic paraplegia-neuropathy-poikiloderma syndrome |
GARD:4921 |
MONDO:equivalentTo |
Spastic paraplegia-neuropathy-poikiloderma syndrome |
|
|
MONDO:0867833 |
autosomal recessive spastic paraplegia type 18 |
GARD:4922 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 18 |
|
|
MONDO:0867834 |
spastic paraplegia type 2 |
GARD:4923 |
MONDO:equivalentTo |
Spastic paraplegia type 2 |
|
|
MONDO:0867835 |
autosomal recessive spastic paraplegia type 39 |
GARD:4924 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 39 |
|
|
MONDO:0867836 |
autosomal dominant spastic paraplegia type 4 |
GARD:4925 |
MONDO:equivalentTo |
Autosomal dominant spastic paraplegia type 4 |
|
|
MONDO:0867837 |
autosomal recessive spastic paraplegia type 5a |
GARD:4926 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 5A |
|
|
MONDO:0867838 |
spastic paraplegia type 7 |
GARD:4927 |
MONDO:equivalentTo |
Spastic paraplegia type 7 |
|
|
MONDO:0867839 |
autosomal dominant spastic paraplegia type 6 |
GARD:4928 |
MONDO:equivalentTo |
Autosomal dominant spastic paraplegia type 6 |
|
|
MONDO:0867840 |
spastic paraplegia-glaucoma-intellectual disability syndrome |
GARD:4931 |
MONDO:equivalentTo |
Spastic paraplegia-glaucoma-intellectual disability syndrome |
|
|
MONDO:0867841 |
spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome |
GARD:4932 |
MONDO:equivalentTo |
Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome |
|
|
MONDO:0867842 |
weill-marchesani syndrome |
GARD:4936 |
MONDO:equivalentTo |
Weill-Marchesani syndrome |
|
|
MONDO:0867843 |
juvenile neuronal ceroid lipofuscinosis |
GARD:4938 |
MONDO:equivalentTo |
Juvenile neuronal ceroid lipofuscinosis |
|
|
MONDO:0867844 |
acrofacial dysostosis, catania type |
GARD:494 |
MONDO:equivalentTo |
Acrofacial dysostosis, Catania type |
|
|
MONDO:0867845 |
spina bifida-hypospadias syndrome |
GARD:4940 |
MONDO:equivalentTo |
Spina bifida-hypospadias syndrome |
|
|
MONDO:0867846 |
spinal atrophy-ophthalmoplegia-pyramidal syndrome |
GARD:4942 |
MONDO:equivalentTo |
Spinal atrophy-ophthalmoplegia-pyramidal syndrome |
|
|
MONDO:0867847 |
proximal spinal muscular atrophy type 2 |
GARD:4945 |
MONDO:equivalentTo |
Proximal spinal muscular atrophy type 2 |
|
|
MONDO:0867848 |
spinocerebellar ataxia type 30 |
GARD:4950 |
MONDO:equivalentTo |
Spinocerebellar ataxia type 30 |
|
|
MONDO:0867849 |
autosomal recessive cerebellar ataxia-movement disorder syndrome |
GARD:4952 |
MONDO:equivalentTo |
Autosomal recessive cerebellar ataxia-movement disorder syndrome |
|
|
MONDO:0867850 |
spinocerebellar ataxia type 5 |
GARD:4953 |
MONDO:equivalentTo |
Spinocerebellar ataxia type 5 |
|
|
MONDO:0867851 |
infantile-onset autosomal recessive nonprogressive cerebellar ataxia |
GARD:4954 |
MONDO:equivalentTo |
Infantile-onset autosomal recessive nonprogressive cerebellar ataxia |
|
|
MONDO:0867852 |
spinocerebellar ataxia type 7 |
GARD:4955 |
MONDO:equivalentTo |
Spinocerebellar ataxia type 7 |
|
|
MONDO:0867853 |
spinocerebellar ataxia type 8 |
GARD:4956 |
MONDO:equivalentTo |
Spinocerebellar ataxia type 8 |
|
|
MONDO:0867854 |
spinocerebellar ataxia-dysmorphism syndrome |
GARD:4958 |
MONDO:equivalentTo |
Spinocerebellar ataxia-dysmorphism syndrome |
|
|
MONDO:0867855 |
acrofacial dysostosis, rodríguez type |
GARD:496 |
MONDO:equivalentTo |
Acrofacial dysostosis, Rodríguez type |
|
|
MONDO:0867856 |
splenogonadal fusion-limb defects-micrognathia syndrome |
GARD:4963 |
MONDO:equivalentTo |
Splenogonadal fusion-limb defects-micrognathia syndrome |
|
|
MONDO:0867857 |
karsch-neugebauer syndrome |
GARD:4967 |
MONDO:equivalentTo |
Karsch-Neugebauer syndrome |
|
|
MONDO:0867858 |
czeizel-losonci syndrome |
GARD:4969 |
MONDO:equivalentTo |
Czeizel-Losonci syndrome |
|
|
MONDO:0867859 |
acrofacial dysostosis, weyers type |
GARD:497 |
MONDO:equivalentTo |
Acrofacial dysostosis, Weyers type |
|
|
MONDO:0867860 |
sponastrime dysplasia |
GARD:4970 |
MONDO:equivalentTo |
SPONASTRIME dysplasia |
|
|
MONDO:0867861 |
spondylocamptodactyly syndrome |
GARD:4972 |
MONDO:equivalentTo |
Spondylocamptodactyly syndrome |
|
|
MONDO:0867862 |
spondylocarpotarsal synostosis |
GARD:4974 |
MONDO:equivalentTo |
Spondylocarpotarsal synostosis |
|
|
MONDO:0867863 |
spondyloenchondrodysplasia |
GARD:4978 |
MONDO:equivalentTo |
Spondyloenchondrodysplasia |
|
|
MONDO:0867864 |
x-linked spondyloepimetaphyseal dysplasia |
GARD:4979 |
MONDO:equivalentTo |
X-linked spondyloepimetaphyseal dysplasia |
|
|
MONDO:0867865 |
nager syndrome |
GARD:498 |
MONDO:equivalentTo |
Nager syndrome |
|
|
MONDO:0867866 |
spondyloepimetaphyseal dysplasia, shohat type |
GARD:4980 |
MONDO:equivalentTo |
Spondyloepimetaphyseal dysplasia, Shohat type |
|
|
MONDO:0867867 |
spondyloepimetaphyseal dysplasia with joint laxity |
GARD:4982 |
MONDO:equivalentTo |
Spondyloepimetaphyseal dysplasia with joint laxity |
|
|
MONDO:0867868 |
schimke immuno-osseous dysplasia |
GARD:4984 |
MONDO:equivalentTo |
Schimke immuno-osseous dysplasia |
|
|
MONDO:0867869 |
spondyloepiphyseal dysplasia congenita |
GARD:4987 |
MONDO:equivalentTo |
Spondyloepiphyseal dysplasia congenita |
|
|
MONDO:0867870 |
acrofacial dysostosis, palagonia type |
GARD:499 |
MONDO:equivalentTo |
Acrofacial dysostosis, Palagonia type |
|
|
MONDO:0867871 |
spondylometaphyseal dysplasia, 'corner fracture' type |
GARD:4991 |
MONDO:equivalentTo |
Spondylometaphyseal dysplasia, 'corner fracture' type |
|
|
MONDO:0867872 |
spondylometaphyseal dysplasia, sedaghatian type |
GARD:4993 |
MONDO:equivalentTo |
Spondylometaphyseal dysplasia, Sedaghatian type |
|
|
MONDO:0867873 |
spondyloperipheral dysplasia-short ulna syndrome |
GARD:4994 |
MONDO:equivalentTo |
Spondyloperipheral dysplasia-short ulna syndrome |
|
|
MONDO:0867874 |
familial spontaneous pneumothorax |
GARD:4997 |
MONDO:equivalentTo |
Familial spontaneous pneumothorax |
|
|
MONDO:0867875 |
abetalipoproteinemia |
GARD:5 |
MONDO:equivalentTo |
Abetalipoproteinemia |
|
|
MONDO:0867876 |
sebocystomatosis |
GARD:5003 |
MONDO:equivalentTo |
Sebocystomatosis |
|
|
MONDO:0867877 |
steatocystoma multiplex-natal teeth syndrome |
GARD:5004 |
MONDO:equivalentTo |
Steatocystoma multiplex-natal teeth syndrome |
|
|
MONDO:0867878 |
sternal cleft |
GARD:5012 |
MONDO:equivalentTo |
Sternal cleft |
|
|
MONDO:0867879 |
steroid dehydrogenase deficiency-dental anomalies syndrome |
GARD:5015 |
MONDO:equivalentTo |
Steroid dehydrogenase deficiency-dental anomalies syndrome |
|
|
MONDO:0867880 |
stickler syndrome type 1 |
GARD:5018 |
MONDO:equivalentTo |
Stickler syndrome type 1 |
|
|
MONDO:0867881 |
stickler syndrome type 2 |
GARD:5020 |
MONDO:equivalentTo |
Stickler syndrome type 2 |
|
|
MONDO:0867882 |
autosomal dominant otospondylomegaepiphyseal dysplasia |
GARD:5021 |
MONDO:equivalentTo |
Autosomal dominant otospondylomegaepiphyseal dysplasia |
|
|
MONDO:0867883 |
stiff person spectrum disorder |
GARD:5023 |
MONDO:equivalentTo |
Stiff person spectrum disorder |
|
|
MONDO:0867884 |
stiff skin syndrome |
GARD:5025 |
MONDO:equivalentTo |
Stiff skin syndrome |
|
|
MONDO:0867885 |
stimmler syndrome |
GARD:5026 |
MONDO:equivalentTo |
Stimmler syndrome |
|
|
MONDO:0867886 |
non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome |
GARD:5027 |
MONDO:equivalentTo |
Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome |
|
|
MONDO:0867887 |
arthrogryposis-ectodermal dysplasia syndrome |
GARD:5029 |
MONDO:equivalentTo |
Arthrogryposis-ectodermal dysplasia syndrome |
|
|
MONDO:0867888 |
alpha delta granule deficiency |
GARD:5034 |
MONDO:equivalentTo |
Alpha delta granule deficiency |
|
|
MONDO:0867889 |
brachydactyly-mesomelia-intellectual disability-heart defects syndrome |
GARD:5036 |
MONDO:equivalentTo |
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome |
|
|
MONDO:0867890 |
spondylometaphyseal dysplasia, schmidt type |
GARD:504 |
MONDO:equivalentTo |
Spondylometaphyseal dysplasia, Schmidt type |
|
|
MONDO:0867891 |
infantile bilateral striatal necrosis |
GARD:5040 |
MONDO:equivalentTo |
Infantile bilateral striatal necrosis |
|
|
MONDO:0867892 |
autosomal dominant spastic paraplegia type 3 |
GARD:5041 |
MONDO:equivalentTo |
Autosomal dominant spastic paraplegia type 3 |
|
|
MONDO:0867893 |
stüve-wiedemann syndrome |
GARD:5045 |
MONDO:equivalentTo |
Stüve-Wiedemann syndrome |
|
|
MONDO:0867894 |
classic lissencephaly |
GARD:5049 |
MONDO:equivalentTo |
Classic lissencephaly |
|
|
MONDO:0867895 |
subependymal nodular heterotopia |
GARD:5050 |
MONDO:equivalentTo |
Subependymal nodular heterotopia |
|
|
MONDO:0867896 |
subpulmonary stenosis |
GARD:5051 |
MONDO:equivalentTo |
Subpulmonary stenosis |
|
|
MONDO:0867897 |
isolated succinate-coq reductase deficiency |
GARD:5053 |
MONDO:equivalentTo |
Isolated succinate-CoQ reductase deficiency |
|
|
MONDO:0867898 |
sugarman brachydactyly |
GARD:5058 |
MONDO:equivalentTo |
Sugarman brachydactyly |
|
|
MONDO:0867899 |
acromesomelic dysplasia, hunter-thompson type |
GARD:506 |
MONDO:equivalentTo |
Acromesomelic dysplasia, Hunter-Thompson type |
|
|
MONDO:0867900 |
multiple sulfatase deficiency |
GARD:5061 |
MONDO:equivalentTo |
Multiple sulfatase deficiency |
|
|
MONDO:0867901 |
isolated sulfite oxidase deficiency |
GARD:5062 |
MONDO:equivalentTo |
Isolated sulfite oxidase deficiency |
|
|
MONDO:0867902 |
microphthalmia-ankyloblepharon-intellectual disability syndrome |
GARD:5066 |
MONDO:equivalentTo |
Microphthalmia-ankyloblepharon-intellectual disability syndrome |
|
|
MONDO:0867903 |
46,xy complete gonadal dysgenesis |
GARD:5068 |
MONDO:equivalentTo |
46,XY complete gonadal dysgenesis |
|
|
MONDO:0867904 |
acromesomelic dysplasia, maroteaux type |
GARD:507 |
MONDO:equivalentTo |
Acromesomelic dysplasia, Maroteaux type |
|
|
MONDO:0867905 |
symmetrical thalamic calcifications |
GARD:5070 |
MONDO:equivalentTo |
Symmetrical thalamic calcifications |
|
|
MONDO:0867906 |
distal symphalangism |
GARD:5074 |
MONDO:equivalentTo |
Distal symphalangism |
|
|
MONDO:0867907 |
symphalangism with multiple anomalies of hands and feet |
GARD:5077 |
MONDO:equivalentTo |
Symphalangism with multiple anomalies of hands and feet |
|
|
MONDO:0867908 |
hajdu-cheney syndrome |
GARD:508 |
MONDO:equivalentTo |
Hajdu-Cheney syndrome |
|
|
MONDO:0867909 |
syndactyly type 1 |
GARD:5081 |
MONDO:equivalentTo |
Syndactyly type 1 |
|
|
MONDO:0867910 |
cenani-lenz syndrome |
GARD:5084 |
MONDO:equivalentTo |
Cenani-Lenz syndrome |
|
|
MONDO:0867911 |
syndactyly type 2 |
GARD:5087 |
MONDO:equivalentTo |
Syndactyly type 2 |
|
|
MONDO:0867912 |
syndactyly type 3 |
GARD:5088 |
MONDO:equivalentTo |
Syndactyly type 3 |
|
|
MONDO:0867913 |
syndactyly type 5 |
GARD:5089 |
MONDO:equivalentTo |
Syndactyly type 5 |
|
|
MONDO:0867914 |
syndactyly-polydactyly-ear lobe syndrome |
GARD:5090 |
MONDO:equivalentTo |
Syndactyly-polydactyly-ear lobe syndrome |
|
|
MONDO:0867915 |
syngnathia-cleft palate syndrome |
GARD:5091 |
MONDO:equivalentTo |
Syngnathia-cleft palate syndrome |
|
|
MONDO:0867916 |
dobrow syndrome |
GARD:5092 |
MONDO:equivalentTo |
Dobrow syndrome |
|
|
MONDO:0867917 |
syringocystadenoma papilliferum |
GARD:5100 |
MONDO:equivalentTo |
Syringocystadenoma papilliferum |
|
|
MONDO:0867918 |
systemic primary carnitine deficiency |
GARD:5104 |
MONDO:equivalentTo |
Systemic primary carnitine deficiency |
|
|
MONDO:0867919 |
thrombocytopenia-absent radius syndrome |
GARD:5116 |
MONDO:equivalentTo |
Thrombocytopenia-absent radius syndrome |
|
|
MONDO:0867920 |
acropectorovertebral dysplasia |
GARD:512 |
MONDO:equivalentTo |
Acropectorovertebral dysplasia |
|
|
MONDO:0867921 |
microcephalic osteodysplastic primordial dwarfism types i and iii |
GARD:5120 |
MONDO:equivalentTo |
Microcephalic osteodysplastic primordial dwarfism types I and III |
|
|
MONDO:0867922 |
otopalatodigital syndrome type 1 |
GARD:5121 |
MONDO:equivalentTo |
Otopalatodigital syndrome type 1 |
|
|
MONDO:0867923 |
anonychia-microcephaly syndrome |
GARD:5123 |
MONDO:equivalentTo |
Anonychia-microcephaly syndrome |
|
|
MONDO:0867924 |
autosomal recessive faciodigitogenital syndrome |
GARD:5124 |
MONDO:equivalentTo |
Autosomal recessive faciodigitogenital syndrome |
|
|
MONDO:0867925 |
teebi-shaltout syndrome |
GARD:5125 |
MONDO:equivalentTo |
Teebi-Shaltout syndrome |
|
|
MONDO:0867926 |
trigonocephaly-bifid nose-acral anomalies syndrome |
GARD:5126 |
MONDO:equivalentTo |
Trigonocephaly-bifid nose-acral anomalies syndrome |
|
|
MONDO:0867927 |
tel hashomer camptodactyly syndrome |
GARD:5128 |
MONDO:equivalentTo |
Tel Hashomer camptodactyly syndrome |
|
|
MONDO:0867928 |
piebald trait-neurologic defects syndrome |
GARD:5133 |
MONDO:equivalentTo |
Piebald trait-neurologic defects syndrome |
|
|
MONDO:0867929 |
familial temporal lobe epilepsy |
GARD:5135 |
MONDO:equivalentTo |
Familial temporal lobe epilepsy |
|
|
MONDO:0867930 |
frank-ter haar syndrome |
GARD:5138 |
MONDO:equivalentTo |
Frank-Ter Haar syndrome |
|
|
MONDO:0867931 |
acrorenal syndrome |
GARD:514 |
MONDO:equivalentTo |
Acrorenal syndrome |
|
|
MONDO:0867932 |
embryonal carcinoma |
GARD:5140 |
MONDO:equivalentTo |
Embryonal carcinoma |
|
|
MONDO:0867933 |
tetanus |
GARD:5144 |
MONDO:equivalentTo |
Tetanus |
|
|
MONDO:0867934 |
tetra-amelia |
GARD:5148 |
MONDO:equivalentTo |
Tetra-amelia |
|
|
MONDO:0867935 |
tetraploidy |
GARD:5151 |
MONDO:equivalentTo |
Tetraploidy |
|
|
MONDO:0867936 |
inverted duplicated chromosome 15 syndrome |
GARD:5153 |
MONDO:equivalentTo |
Inverted duplicated chromosome 15 syndrome |
|
|
MONDO:0867937 |
thakker-donnai syndrome |
GARD:5158 |
MONDO:equivalentTo |
Thakker-Donnai syndrome |
|
|
MONDO:0867938 |
progressive deafness with stapes fixation |
GARD:5170 |
MONDO:equivalentTo |
Progressive deafness with stapes fixation |
|
|
MONDO:0867939 |
thomas syndrome |
GARD:5175 |
MONDO:equivalentTo |
Thomas syndrome |
|
|
MONDO:0867940 |
x-linked thrombocytopenia with normal platelets |
GARD:5176 |
MONDO:equivalentTo |
X-linked thrombocytopenia with normal platelets |
|
|
MONDO:0867941 |
hepatic fibrosis-renal cysts-intellectual disability syndrome |
GARD:5177 |
MONDO:equivalentTo |
Hepatic fibrosis-renal cysts-intellectual disability syndrome |
|
|
MONDO:0867942 |
thoracic dysplasia-hydrocephalus syndrome |
GARD:5180 |
MONDO:equivalentTo |
Thoracic dysplasia-hydrocephalus syndrome |
|
|
MONDO:0867943 |
thoraco-abdominal enteric duplication |
GARD:5181 |
MONDO:equivalentTo |
Thoraco-abdominal enteric duplication |
|
|
MONDO:0867944 |
thoracolaryngopelvic dysplasia |
GARD:5184 |
MONDO:equivalentTo |
Thoracolaryngopelvic dysplasia |
|
|
MONDO:0867945 |
krt1-related diffuse nonepidermolytic keratoderma |
GARD:5186 |
MONDO:equivalentTo |
KRT1-related diffuse nonepidermolytic keratoderma |
|
|
MONDO:0867946 |
stormorken-sjaastad-langslet syndrome |
GARD:5188 |
MONDO:equivalentTo |
Stormorken-Sjaastad-Langslet syndrome |
|
|
MONDO:0867947 |
idiopathic acute eosinophilic pneumonia |
GARD:519 |
MONDO:equivalentTo |
Idiopathic acute eosinophilic pneumonia |
|
|
MONDO:0867948 |
immune thrombocytopenia |
GARD:5194 |
MONDO:equivalentTo |
Immune thrombocytopenia |
|
|
MONDO:0867949 |
familial thrombomodulin anomalies |
GARD:5195 |
MONDO:equivalentTo |
Familial thrombomodulin anomalies |
|
|
MONDO:0867950 |
thumb deformity-alopecia-pigmentation anomaly syndrome |
GARD:5199 |
MONDO:equivalentTo |
Thumb deformity-alopecia-pigmentation anomaly syndrome |
|
|
MONDO:0867951 |
thymic epithelial neoplasm |
GARD:5201 |
MONDO:equivalentTo |
Thymic epithelial neoplasm |
|
|
MONDO:0867952 |
thymic-renal-anal-lung dysplasia |
GARD:5202 |
MONDO:equivalentTo |
Thymic-renal-anal-lung dysplasia |
|
|
MONDO:0867953 |
familial thyroglossal duct cyst |
GARD:5204 |
MONDO:equivalentTo |
Familial thyroglossal duct cyst |
|
|
MONDO:0867954 |
sweet syndrome |
GARD:521 |
MONDO:equivalentTo |
Sweet syndrome |
|
|
MONDO:0867955 |
absent tibia-polydactyly-arachnoid cyst syndrome |
GARD:5210 |
MONDO:equivalentTo |
Absent tibia-polydactyly-arachnoid cyst syndrome |
|
|
MONDO:0867956 |
tick-borne encephalitis |
GARD:5216 |
MONDO:equivalentTo |
Tick-borne encephalitis |
|
|
MONDO:0867957 |
acute lymphoblastic leukemia |
GARD:522 |
MONDO:equivalentTo |
Acute lymphoblastic leukemia |
|
|
MONDO:0867958 |
hereditary neuropathy with liability to pressure palsies |
GARD:5221 |
MONDO:equivalentTo |
Hereditary neuropathy with liability to pressure palsies |
|
|
MONDO:0867959 |
toriello-carey syndrome |
GARD:5225 |
MONDO:equivalentTo |
Toriello-Carey syndrome |
|
|
MONDO:0867960 |
torticollis-keloids-cryptorchidism-renal dysplasia syndrome |
GARD:5230 |
MONDO:equivalentTo |
Torticollis-keloids-cryptorchidism-renal dysplasia syndrome |
|
|
MONDO:0867961 |
skin fragility-woolly hair-palmoplantar keratoderma syndrome |
GARD:5231 |
MONDO:equivalentTo |
Skin fragility-woolly hair-palmoplantar keratoderma syndrome |
|
|
MONDO:0867962 |
weismann-netter syndrome |
GARD:5232 |
MONDO:equivalentTo |
Weismann-Netter syndrome |
|
|
MONDO:0867963 |
tracheal agenesis |
GARD:5233 |
MONDO:equivalentTo |
Tracheal agenesis |
|
|
MONDO:0867964 |
tracheobronchopathia osteochondroplastica |
GARD:5235 |
MONDO:equivalentTo |
Tracheobronchopathia osteochondroplastica |
|
|
MONDO:0867965 |
hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome |
GARD:5237 |
MONDO:equivalentTo |
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome |
|
|
MONDO:0867966 |
x-linked intellectual disability-seizures-psoriasis syndrome |
GARD:5238 |
MONDO:equivalentTo |
X-linked intellectual disability-seizures-psoriasis syndrome |
|
|
MONDO:0867967 |
acute megakaryoblastic leukemia |
GARD:524 |
MONDO:equivalentTo |
Acute megakaryoblastic leukemia |
|
|
MONDO:0867968 |
autosomal dominant optic atrophy plus syndrome |
GARD:5243 |
MONDO:equivalentTo |
Autosomal dominant optic atrophy plus syndrome |
|
|
MONDO:0867969 |
acute monoblastic/monocytic leukemia |
GARD:525 |
MONDO:equivalentTo |
Acute monoblastic/monocytic leukemia |
|
|
MONDO:0867970 |
trichinellosis |
GARD:5250 |
MONDO:equivalentTo |
Trichinellosis |
|
|
MONDO:0867971 |
syndromic diarrhea |
GARD:5258 |
MONDO:equivalentTo |
Syndromic diarrhea |
|
|
MONDO:0867972 |
acute myeloblastic leukemia without maturation |
GARD:526 |
MONDO:equivalentTo |
Acute myeloblastic leukemia without maturation |
|
|
MONDO:0867973 |
trichodysplasia-xeroderma syndrome |
GARD:5261 |
MONDO:equivalentTo |
Trichodysplasia-xeroderma syndrome |
|
|
MONDO:0867974 |
trichofolliculoma |
GARD:5263 |
MONDO:equivalentTo |
Trichofolliculoma |
|
|
MONDO:0867975 |
trichomegaly-retina pigmentary degeneration-dwarfism syndrome |
GARD:5266 |
MONDO:equivalentTo |
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome |
|
|
MONDO:0867976 |
trichoodontoonychial dysplasia |
GARD:5267 |
MONDO:equivalentTo |
Trichoodontoonychial dysplasia |
|
|
MONDO:0867977 |
acute myeloblastic leukemia with maturation |
GARD:527 |
MONDO:equivalentTo |
Acute myeloblastic leukemia with maturation |
|
|
MONDO:0867978 |
tricuspid atresia |
GARD:5274 |
MONDO:equivalentTo |
Tricuspid atresia |
|
|
MONDO:0867979 |
baraitser-winter cerebrofrontofacial syndrome |
GARD:5279 |
MONDO:equivalentTo |
Baraitser-Winter cerebrofrontofacial syndrome |
|
|
MONDO:0867980 |
triopia |
GARD:5286 |
MONDO:equivalentTo |
Triopia |
|
|
MONDO:0867981 |
triose phosphate-isomerase deficiency |
GARD:5287 |
MONDO:equivalentTo |
Triose phosphate-isomerase deficiency |
|
|
MONDO:0867982 |
polydactyly of a triphalangeal thumb |
GARD:5289 |
MONDO:equivalentTo |
Polydactyly of a triphalangeal thumb |
|
|
MONDO:0867983 |
acute myelomonocytic leukemia |
GARD:529 |
MONDO:equivalentTo |
Acute myelomonocytic leukemia |
|
|
MONDO:0867984 |
triphalangeal thumbs-brachyectrodactyly syndrome |
GARD:5290 |
MONDO:equivalentTo |
Triphalangeal thumbs-brachyectrodactyly syndrome |
|
|
MONDO:0867985 |
triploidy |
GARD:5295 |
MONDO:equivalentTo |
Triploidy |
|
|
MONDO:0867986 |
trisomy 10p |
GARD:5299 |
MONDO:equivalentTo |
Trisomy 10p |
|
|
MONDO:0867987 |
mosaic trisomy 12 |
GARD:5304 |
MONDO:equivalentTo |
Mosaic trisomy 12 |
|
|
MONDO:0867988 |
trisomy 12p |
GARD:5305 |
MONDO:equivalentTo |
Trisomy 12p |
|
|
MONDO:0867989 |
mosaic trisomy 15 |
GARD:5313 |
MONDO:equivalentTo |
Mosaic trisomy 15 |
|
|
MONDO:0867990 |
mosaic trisomy 17 |
GARD:5317 |
MONDO:equivalentTo |
Mosaic trisomy 17 |
|
|
MONDO:0867991 |
trisomy 17p |
GARD:5318 |
MONDO:equivalentTo |
Trisomy 17p |
|
|
MONDO:0867992 |
trisomy 18p |
GARD:5323 |
MONDO:equivalentTo |
Trisomy 18p |
|
|
MONDO:0867993 |
mosaic trisomy 2 |
GARD:5331 |
MONDO:equivalentTo |
Mosaic trisomy 2 |
|
|
MONDO:0867994 |
trisomy 20p |
GARD:5333 |
MONDO:equivalentTo |
Trisomy 20p |
|
|
MONDO:0867995 |
mosaic trisomy 3 |
GARD:5342 |
MONDO:equivalentTo |
Mosaic trisomy 3 |
|
|
MONDO:0867996 |
mosaic trisomy 7 |
GARD:5354 |
MONDO:equivalentTo |
Mosaic trisomy 7 |
|
|
MONDO:0867997 |
mosaic trisomy 8 |
GARD:5359 |
MONDO:equivalentTo |
Mosaic trisomy 8 |
|
|
MONDO:0867998 |
acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) |
GARD:536 |
MONDO:equivalentTo |
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) |
|
|
MONDO:0867999 |
trisomy 8q |
GARD:5362 |
MONDO:equivalentTo |
Trisomy 8q |
|
|
MONDO:0868000 |
autosomal recessive spastic paraplegia type 20 |
GARD:5372 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 20 |
|
|
MONDO:0868001 |
acute promyelocytic leukemia |
GARD:538 |
MONDO:equivalentTo |
Acute promyelocytic leukemia |
|
|
MONDO:0868002 |
transient tyrosinemia of the newborn |
GARD:5388 |
MONDO:equivalentTo |
Transient tyrosinemia of the newborn |
|
|
MONDO:0868003 |
galactose epimerase deficiency |
GARD:5392 |
MONDO:equivalentTo |
Galactose epimerase deficiency |
|
|
MONDO:0868004 |
uhl anomaly |
GARD:5393 |
MONDO:equivalentTo |
Uhl anomaly |
|
|
MONDO:0868005 |
ulbright-hodes syndrome |
GARD:5394 |
MONDO:equivalentTo |
Ulbright-Hodes syndrome |
|
|
MONDO:0868006 |
ulerythema ophryogenesis |
GARD:5395 |
MONDO:equivalentTo |
Ulerythema ophryogenesis |
|
|
MONDO:0868007 |
ulna hypoplasia-intellectual disability syndrome |
GARD:5398 |
MONDO:equivalentTo |
Ulna hypoplasia-intellectual disability syndrome |
|
|
MONDO:0868008 |
duodenal atresia |
GARD:54 |
MONDO:equivalentTo |
Duodenal atresia |
|
|
MONDO:0868009 |
medium chain acyl-coa dehydrogenase deficiency |
GARD:540 |
MONDO:equivalentTo |
Medium chain acyl-CoA dehydrogenase deficiency |
|
|
MONDO:0868010 |
ulnar hypoplasia-split foot syndrome |
GARD:5400 |
MONDO:equivalentTo |
Ulnar hypoplasia-split foot syndrome |
|
|
MONDO:0868011 |
umbilical cord ulceration-intestinal atresia syndrome |
GARD:5403 |
MONDO:equivalentTo |
Umbilical cord ulceration-intestinal atresia syndrome |
|
|
MONDO:0868012 |
uncombable hair syndrome |
GARD:5404 |
MONDO:equivalentTo |
Uncombable hair syndrome |
|
|
MONDO:0868013 |
17q11 microdeletion syndrome |
GARD:5408 |
MONDO:equivalentTo |
17q11 microdeletion syndrome |
|
|
MONDO:0868014 |
kagami-ogata syndrome due to paternal uniparental disomy of chromosome 14 |
GARD:5409 |
MONDO:equivalentTo |
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 |
|
|
MONDO:0868015 |
upington disease |
GARD:5421 |
MONDO:equivalentTo |
Upington disease |
|
|
MONDO:0868016 |
urachal cyst |
GARD:5425 |
MONDO:equivalentTo |
Urachal cyst |
|
|
MONDO:0868017 |
urban-rogers-meyer syndrome |
GARD:5426 |
MONDO:equivalentTo |
Urban-Rogers-Meyer syndrome |
|
|
MONDO:0868018 |
hereditary mucoepithelial dysplasia |
GARD:5427 |
MONDO:equivalentTo |
Hereditary mucoepithelial dysplasia |
|
|
MONDO:0868019 |
hereditary orotic aciduria |
GARD:5429 |
MONDO:equivalentTo |
Hereditary orotic aciduria |
|
|
MONDO:0868020 |
müllerian derivatives-lymphangiectasia-polydactyly syndrome |
GARD:5430 |
MONDO:equivalentTo |
Müllerian derivatives-lymphangiectasia-polydactyly syndrome |
|
|
MONDO:0868021 |
usher syndrome type 1 |
GARD:5435 |
MONDO:equivalentTo |
Usher syndrome type 1 |
|
|
MONDO:0868022 |
usher syndrome type 2 |
GARD:5440 |
MONDO:equivalentTo |
Usher syndrome type 2 |
|
|
MONDO:0868023 |
usher syndrome type 3 |
GARD:5442 |
MONDO:equivalentTo |
Usher syndrome type 3 |
|
|
MONDO:0868024 |
vacterl/vater association |
GARD:5443 |
MONDO:equivalentTo |
VACTERL/VATER association |
|
|
MONDO:0868025 |
mayer-rokitansky-küster-hauser syndrome |
GARD:5445 |
MONDO:equivalentTo |
Mayer-Rokitansky-Küster-Hauser syndrome |
|
|
MONDO:0868026 |
fetal valproate spectrum disorder |
GARD:5447 |
MONDO:equivalentTo |
Fetal valproate spectrum disorder |
|
|
MONDO:0868027 |
van den bosch syndrome |
GARD:5453 |
MONDO:equivalentTo |
Van den Bosch syndrome |
|
|
MONDO:0868028 |
cerebrofacioarticular syndrome |
GARD:5456 |
MONDO:equivalentTo |
Cerebrofacioarticular syndrome |
|
|
MONDO:0868029 |
adenine phosphoribosyltransferase deficiency |
GARD:546 |
MONDO:equivalentTo |
Adenine phosphoribosyltransferase deficiency |
|
|
MONDO:0868030 |
congenital bilateral absence of vas deferens |
GARD:5461 |
MONDO:equivalentTo |
Congenital bilateral absence of vas deferens |
|
|
MONDO:0868031 |
vein of galen aneurysmal malformation |
GARD:5467 |
MONDO:equivalentTo |
Vein of Galen aneurysmal malformation |
|
|
MONDO:0868032 |
velo-facial-skeletal syndrome |
GARD:5469 |
MONDO:equivalentTo |
Velo-facial-skeletal syndrome |
|
|
MONDO:0868033 |
adenosine monophosphate deaminase deficiency |
GARD:547 |
MONDO:equivalentTo |
Adenosine monophosphate deaminase deficiency |
|
|
MONDO:0868034 |
congenital velopharyngeal incompetence |
GARD:5470 |
MONDO:equivalentTo |
Congenital velopharyngeal incompetence |
|
|
MONDO:0868035 |
ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome |
GARD:5472 |
MONDO:equivalentTo |
Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome |
|
|
MONDO:0868036 |
congenitally uncorrected transposition of the great arteries |
GARD:5476 |
MONDO:equivalentTo |
Congenitally uncorrected transposition of the great arteries |
|
|
MONDO:0868037 |
brachyolmia-amelogenesis imperfecta syndrome |
GARD:5478 |
MONDO:equivalentTo |
Brachyolmia-amelogenesis imperfecta syndrome |
|
|
MONDO:0868038 |
microspherophakia-metaphyseal dysplasia syndrome |
GARD:5481 |
MONDO:equivalentTo |
Microspherophakia-metaphyseal dysplasia syndrome |
|
|
MONDO:0868039 |
verloove vanhorick-brubakk syndrome |
GARD:5482 |
MONDO:equivalentTo |
Verloove Vanhorick-Brubakk syndrome |
|
|
MONDO:0868040 |
inflammatory linear verrucous epidermal nevus |
GARD:5484 |
MONDO:equivalentTo |
Inflammatory linear verrucous epidermal nevus |
|
|
MONDO:0868041 |
acanthokeratolytic verrucous nevus |
GARD:5485 |
MONDO:equivalentTo |
Acanthokeratolytic verrucous nevus |
|
|
MONDO:0868042 |
congenital vertical talus |
GARD:5488 |
MONDO:equivalentTo |
Congenital vertical talus |
|
|
MONDO:0868043 |
microcephaly-brachydactyly-kyphoscoliosis syndrome |
GARD:5490 |
MONDO:equivalentTo |
Microcephaly-brachydactyly-kyphoscoliosis syndrome |
|
|
MONDO:0868044 |
viral hemorrhagic fever |
GARD:5494 |
MONDO:equivalentTo |
Viral hemorrhagic fever |
|
|
MONDO:0868045 |
malignant sertoli-leydig cell tumor of the ovary |
GARD:5495 |
MONDO:equivalentTo |
Malignant Sertoli-Leydig cell tumor of the ovary |
|
|
MONDO:0868046 |
oculogastrointestinal muscular dystrophy |
GARD:5496 |
MONDO:equivalentTo |
Oculogastrointestinal muscular dystrophy |
|
|
MONDO:0868047 |
adenylosuccinate lyase deficiency |
GARD:550 |
MONDO:equivalentTo |
Adenylosuccinate lyase deficiency |
|
|
MONDO:0868048 |
vitamin b12-responsive methylmalonic acidemia type cbla |
GARD:5500 |
MONDO:equivalentTo |
Vitamin B12-responsive methylmalonic acidemia type cblA |
|
|
MONDO:0868049 |
autosomal dominant vitreoretinochoroidopathy |
GARD:5507 |
MONDO:equivalentTo |
Autosomal dominant vitreoretinochoroidopathy |
|
|
MONDO:0868050 |
very long chain acyl-coa dehydrogenase deficiency |
GARD:5508 |
MONDO:equivalentTo |
Very long chain acyl-CoA dehydrogenase deficiency |
|
|
MONDO:0868051 |
laryngeal abductor paralysis |
GARD:5509 |
MONDO:equivalentTo |
Laryngeal abductor paralysis |
|
|
MONDO:0868052 |
mayer-rokitansky-küster-hauser syndrome type 2 |
GARD:5513 |
MONDO:equivalentTo |
Mayer-Rokitansky-Küster-Hauser syndrome type 2 |
|
|
MONDO:0868053 |
hydrocephalus-costovertebral dysplasia-sprengel anomaly syndrome |
GARD:5518 |
MONDO:equivalentTo |
Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome |
|
|
MONDO:0868054 |
waardenburg syndrome type 1 |
GARD:5519 |
MONDO:equivalentTo |
Waardenburg syndrome type 1 |
|
|
MONDO:0868055 |
waardenburg syndrome type 2 |
GARD:5520 |
MONDO:equivalentTo |
Waardenburg syndrome type 2 |
|
|
MONDO:0868056 |
waardenburg syndrome type 3 |
GARD:5523 |
MONDO:equivalentTo |
Waardenburg syndrome type 3 |
|
|
MONDO:0868057 |
waardenburg-shah syndrome |
GARD:5524 |
MONDO:equivalentTo |
Waardenburg-Shah syndrome |
|
|
MONDO:0868058 |
waardenburg syndrome |
GARD:5525 |
MONDO:equivalentTo |
Waardenburg syndrome |
|
|
MONDO:0868059 |
wagr syndrome |
GARD:5528 |
MONDO:equivalentTo |
WAGR syndrome |
|
|
MONDO:0868060 |
aniridia-intellectual disability syndrome |
GARD:5530 |
MONDO:equivalentTo |
Aniridia-intellectual disability syndrome |
|
|
MONDO:0868061 |
cleidorhizomelic syndrome |
GARD:5532 |
MONDO:equivalentTo |
Cleidorhizomelic syndrome |
|
|
MONDO:0868062 |
micro syndrome |
GARD:5534 |
MONDO:equivalentTo |
Micro syndrome |
|
|
MONDO:0868063 |
deaf blind hypopigmentation syndrome, yemenite type |
GARD:5535 |
MONDO:equivalentTo |
Deaf blind hypopigmentation syndrome, Yemenite type |
|
|
MONDO:0868064 |
craniosynostosis, boston type |
GARD:5538 |
MONDO:equivalentTo |
Craniosynostosis, Boston type |
|
|
MONDO:0868065 |
acromelic frontonasal dysplasia |
GARD:5539 |
MONDO:equivalentTo |
Acromelic frontonasal dysplasia |
|
|
MONDO:0868066 |
weaver-williams syndrome |
GARD:5545 |
MONDO:equivalentTo |
Weaver-Williams syndrome |
|
|
MONDO:0868067 |
x-linked adrenal hypoplasia congenita |
GARD:555 |
MONDO:equivalentTo |
X-linked adrenal hypoplasia congenita |
|
|
MONDO:0868068 |
distal myopathy, welander type |
GARD:5552 |
MONDO:equivalentTo |
Distal myopathy, Welander type |
|
|
MONDO:0868069 |
cataract-aberrant oral frenula-growth delay syndrome |
GARD:5554 |
MONDO:equivalentTo |
Cataract-aberrant oral frenula-growth delay syndrome |
|
|
MONDO:0868070 |
spastic paraparesis-deafness syndrome |
GARD:5555 |
MONDO:equivalentTo |
Spastic paraparesis-deafness syndrome |
|
|
MONDO:0868071 |
white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome |
GARD:5560 |
MONDO:equivalentTo |
White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome |
|
|
MONDO:0868072 |
osteopathia striata-pigmentary dermopathy-white forelock syndrome |
GARD:5562 |
MONDO:equivalentTo |
Osteopathia striata-pigmentary dermopathy-white forelock syndrome |
|
|
MONDO:0868073 |
wiedemann-steiner syndrome |
GARD:5565 |
MONDO:equivalentTo |
Wiedemann-Steiner syndrome |
|
|
MONDO:0868074 |
wildervanck syndrome |
GARD:5569 |
MONDO:equivalentTo |
Wildervanck syndrome |
|
|
MONDO:0868075 |
acquired von willebrand syndrome |
GARD:5573 |
MONDO:equivalentTo |
Acquired von Willebrand syndrome |
|
|
MONDO:0868076 |
prader-willi syndrome |
GARD:5575 |
MONDO:equivalentTo |
Prader-Willi syndrome |
|
|
MONDO:0868077 |
denys-drash syndrome |
GARD:5576 |
MONDO:equivalentTo |
Denys-Drash syndrome |
|
|
MONDO:0868078 |
wilson-turner syndrome |
GARD:5579 |
MONDO:equivalentTo |
Wilson-Turner syndrome |
|
|
MONDO:0868079 |
adrenocortical carcinoma |
GARD:558 |
MONDO:equivalentTo |
Adrenocortical carcinoma |
|
|
MONDO:0868080 |
curry-jones syndrome |
GARD:5584 |
MONDO:equivalentTo |
Curry-Jones syndrome |
|
|
MONDO:0868081 |
hypodontia-dysplasia of nails syndrome |
GARD:5587 |
MONDO:equivalentTo |
Hypodontia-dysplasia of nails syndrome |
|
|
MONDO:0868082 |
wolcott-rallison syndrome |
GARD:5589 |
MONDO:equivalentTo |
Wolcott-Rallison syndrome |
|
|
MONDO:0868083 |
neonatal adrenoleukodystrophy |
GARD:559 |
MONDO:equivalentTo |
Neonatal adrenoleukodystrophy |
|
|
MONDO:0868084 |
woodhouse-sakati syndrome |
GARD:5592 |
MONDO:equivalentTo |
Woodhouse-Sakati syndrome |
|
|
MONDO:0868085 |
carvajal syndrome |
GARD:5595 |
MONDO:equivalentTo |
Carvajal syndrome |
|
|
MONDO:0868086 |
woolly hair |
GARD:5597 |
MONDO:equivalentTo |
Woolly hair |
|
|
MONDO:0868087 |
worster-drought syndrome |
GARD:5598 |
MONDO:equivalentTo |
Worster-Drought syndrome |
|
|
MONDO:0868088 |
severe x-linked intellectual disability, gustavson type |
GARD:5611 |
MONDO:equivalentTo |
Severe X-linked intellectual disability, Gustavson type |
|
|
MONDO:0868089 |
x-linked intellectual disability, snyder type |
GARD:5615 |
MONDO:equivalentTo |
X-linked intellectual disability, Snyder type |
|
|
MONDO:0868090 |
allan-herndon-dudley syndrome |
GARD:5617 |
MONDO:equivalentTo |
Allan-Herndon-Dudley syndrome |
|
|
MONDO:0868091 |
t-b+ severe combined immunodeficiency due to gamma chain deficiency |
GARD:5618 |
MONDO:equivalentTo |
T-B+ severe combined immunodeficiency due to gamma chain deficiency |
|
|
MONDO:0868092 |
adrenomyodystrophy |
GARD:562 |
MONDO:equivalentTo |
Adrenomyodystrophy |
|
|
MONDO:0868093 |
xanthinuria type ii |
GARD:5620 |
MONDO:equivalentTo |
Xanthinuria type II |
|
|
MONDO:0868094 |
xanthinuria type i |
GARD:5621 |
MONDO:equivalentTo |
Xanthinuria type I |
|
|
MONDO:0868095 |
cerebrotendinous xanthomatosis |
GARD:5622 |
MONDO:equivalentTo |
Cerebrotendinous xanthomatosis |
|
|
MONDO:0868096 |
dehydrated hereditary stomatocytosis |
GARD:5623 |
MONDO:equivalentTo |
Dehydrated hereditary stomatocytosis |
|
|
MONDO:0868097 |
xeroderma pigmentosum variant |
GARD:5630 |
MONDO:equivalentTo |
Xeroderma pigmentosum variant |
|
|
MONDO:0868098 |
proximal spinal muscular atrophy type 4 |
GARD:564 |
MONDO:equivalentTo |
Proximal spinal muscular atrophy type 4 |
|
|
MONDO:0868099 |
aase-smith syndrome |
GARD:5642 |
MONDO:equivalentTo |
Aase-Smith syndrome |
|
|
MONDO:0868100 |
dentatorubral pallidoluysian atrophy |
GARD:5643 |
MONDO:equivalentTo |
Dentatorubral pallidoluysian atrophy |
|
|
MONDO:0868101 |
photosensitive epilepsy |
GARD:5648 |
MONDO:equivalentTo |
Photosensitive epilepsy |
|
|
MONDO:0868102 |
gliosarcoma |
GARD:5653 |
MONDO:equivalentTo |
Gliosarcoma |
|
|
MONDO:0868103 |
alveolar soft tissue sarcoma |
GARD:5654 |
MONDO:equivalentTo |
Alveolar soft tissue sarcoma |
|
|
MONDO:0868104 |
pfapa syndrome |
GARD:5657 |
MONDO:equivalentTo |
PFAPA syndrome |
|
|
MONDO:0868105 |
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency |
GARD:5658 |
MONDO:equivalentTo |
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency |
|
|
MONDO:0868106 |
46,xy disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency |
GARD:5659 |
MONDO:equivalentTo |
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency |
|
|
MONDO:0868107 |
d-2-hydroxyglutaric aciduria |
GARD:5661 |
MONDO:equivalentTo |
D-2-hydroxyglutaric aciduria |
|
|
MONDO:0868108 |
3-hydroxyisobutyric aciduria |
GARD:5662 |
MONDO:equivalentTo |
3-hydroxyisobutyric aciduria |
|
|
MONDO:0868109 |
3-methylglutaconic aciduria type 3 |
GARD:5663 |
MONDO:equivalentTo |
3-methylglutaconic aciduria type 3 |
|
|
MONDO:0868110 |
3c syndrome |
GARD:5666 |
MONDO:equivalentTo |
3C syndrome |
|
|
MONDO:0868111 |
3m syndrome |
GARD:5667 |
MONDO:equivalentTo |
3M syndrome |
|
|
MONDO:0868112 |
hawkinsinuria |
GARD:5668 |
MONDO:equivalentTo |
Hawkinsinuria |
|
|
MONDO:0868113 |
46,xx gonadal dysgenesis |
GARD:5671 |
MONDO:equivalentTo |
46,XX gonadal dysgenesis |
|
|
MONDO:0868114 |
trisomy x |
GARD:5672 |
MONDO:equivalentTo |
Trisomy X |
|
|
MONDO:0868115 |
47,xyy syndrome |
GARD:5674 |
MONDO:equivalentTo |
47,XYY syndrome |
|
|
MONDO:0868116 |
48,xxxy syndrome |
GARD:5676 |
MONDO:equivalentTo |
48,XXXY syndrome |
|
|
MONDO:0868117 |
48,xxyy syndrome |
GARD:5677 |
MONDO:equivalentTo |
48,XXYY syndrome |
|
|
MONDO:0868118 |
pentasomy x |
GARD:5678 |
MONDO:equivalentTo |
Pentasomy X |
|
|
MONDO:0868119 |
49,xxxxy syndrome |
GARD:5679 |
MONDO:equivalentTo |
49,XXXXY syndrome |
|
|
MONDO:0868120 |
46,xy disorder of sex development due to 5-alpha-reductase 2 deficiency |
GARD:5680 |
MONDO:equivalentTo |
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency |
|
|
MONDO:0868121 |
5-oxoprolinase deficiency |
GARD:5681 |
MONDO:equivalentTo |
5-oxoprolinase deficiency |
|
|
MONDO:0868122 |
6-pyruvoyl-tetrahydropterin synthase deficiency |
GARD:5682 |
MONDO:equivalentTo |
6-pyruvoyl-tetrahydropterin synthase deficiency |
|
|
MONDO:0868123 |
smith-lemli-opitz syndrome |
GARD:5683 |
MONDO:equivalentTo |
Smith-Lemli-Opitz syndrome |
|
|
MONDO:0868124 |
glycogen storage disease due to muscle phosphofructokinase deficiency |
GARD:5686 |
MONDO:equivalentTo |
Glycogen storage disease due to muscle phosphofructokinase deficiency |
|
|
MONDO:0868125 |
temtamy syndrome |
GARD:5688 |
MONDO:equivalentTo |
Temtamy syndrome |
|
|
MONDO:0868126 |
refsum disease |
GARD:5691 |
MONDO:equivalentTo |
Refsum disease |
|
|
MONDO:0868127 |
partial androgen insensitivity syndrome |
GARD:5692 |
MONDO:equivalentTo |
Partial androgen insensitivity syndrome |
|
|
MONDO:0868128 |
reactive arthritis |
GARD:5693 |
MONDO:equivalentTo |
Reactive arthritis |
|
|
MONDO:0868129 |
retinitis pigmentosa |
GARD:5694 |
MONDO:equivalentTo |
Retinitis pigmentosa |
|
|
MONDO:0868130 |
retinopathy of prematurity |
GARD:5695 |
MONDO:equivalentTo |
Retinopathy of prematurity |
|
|
MONDO:0868131 |
rett syndrome |
GARD:5696 |
MONDO:equivalentTo |
Rett syndrome |
|
|
MONDO:0868132 |
rheumatic fever |
GARD:5699 |
MONDO:equivalentTo |
Rheumatic fever |
|
|
MONDO:0868133 |
axenfeld-rieger syndrome |
GARD:5701 |
MONDO:equivalentTo |
Axenfeld-Rieger syndrome |
|
|
MONDO:0868134 |
idiopathic achalasia |
GARD:5708 |
MONDO:equivalentTo |
Idiopathic achalasia |
|
|
MONDO:0868135 |
glycogen storage disease due to acid maltase deficiency |
GARD:5714 |
MONDO:equivalentTo |
Glycogen storage disease due to acid maltase deficiency |
|
|
MONDO:0868136 |
acrocallosal syndrome |
GARD:5721 |
MONDO:equivalentTo |
Acrocallosal syndrome |
|
|
MONDO:0868137 |
acrodermatitis enteropathica |
GARD:5723 |
MONDO:equivalentTo |
Acrodermatitis enteropathica |
|
|
MONDO:0868138 |
acrodysostosis |
GARD:5724 |
MONDO:equivalentTo |
Acrodysostosis |
|
|
MONDO:0868139 |
acromegaly |
GARD:5725 |
MONDO:equivalentTo |
Acromegaly |
|
|
MONDO:0868140 |
congenital isolated acth deficiency |
GARD:5727 |
MONDO:equivalentTo |
Congenital isolated ACTH deficiency |
|
|
MONDO:0868141 |
actinomycosis |
GARD:5728 |
MONDO:equivalentTo |
Actinomycosis |
|
|
MONDO:0868142 |
acute intermittent porphyria |
GARD:5732 |
MONDO:equivalentTo |
Acute intermittent porphyria |
|
|
MONDO:0868143 |
adams-oliver syndrome |
GARD:5739 |
MONDO:equivalentTo |
Adams-Oliver syndrome |
|
|
MONDO:0868144 |
addison disease |
GARD:5740 |
MONDO:equivalentTo |
Addison disease |
|
|
MONDO:0868145 |
ameloblastoma |
GARD:5747 |
MONDO:equivalentTo |
Ameloblastoma |
|
|
MONDO:0868146 |
severe combined immunodeficiency due to adenosine deaminase deficiency |
GARD:5748 |
MONDO:equivalentTo |
Severe combined immunodeficiency due to adenosine deaminase deficiency |
|
|
MONDO:0868147 |
holmes-adie syndrome |
GARD:5749 |
MONDO:equivalentTo |
Holmes-Adie syndrome |
|
|
MONDO:0868148 |
aicardi-goutières syndrome |
GARD:575 |
MONDO:equivalentTo |
Aicardi-Goutières syndrome |
|
|
MONDO:0868149 |
adiposis dolorosa |
GARD:5750 |
MONDO:equivalentTo |
Adiposis dolorosa |
|
|
MONDO:0868150 |
x-linked adrenoleukodystrophy |
GARD:5758 |
MONDO:equivalentTo |
X-linked adrenoleukodystrophy |
|
|
MONDO:0868151 |
familial afibrinogenemia |
GARD:5761 |
MONDO:equivalentTo |
Familial afibrinogenemia |
|
|
MONDO:0868152 |
aicardi syndrome |
GARD:5764 |
MONDO:equivalentTo |
Aicardi syndrome |
|
|
MONDO:0868153 |
pseudohypoparathyroidism with albright hereditary osteodystrophy |
GARD:5770 |
MONDO:equivalentTo |
Pseudohypoparathyroidism with Albright hereditary osteodystrophy |
|
|
MONDO:0868154 |
alexander disease |
GARD:5774 |
MONDO:equivalentTo |
Alexander disease |
|
|
MONDO:0868155 |
alkaptonuria |
GARD:5775 |
MONDO:equivalentTo |
Alkaptonuria |
|
|
MONDO:0868156 |
alpers-huttenlocher syndrome |
GARD:5783 |
MONDO:equivalentTo |
Alpers-Huttenlocher syndrome |
|
|
MONDO:0868157 |
alpha-1-antitrypsin deficiency |
GARD:5784 |
MONDO:equivalentTo |
Alpha-1-antitrypsin deficiency |
|
|
MONDO:0868158 |
alport syndrome |
GARD:5785 |
MONDO:equivalentTo |
Alport syndrome |
|
|
MONDO:0868159 |
amyotrophic lateral sclerosis |
GARD:5786 |
MONDO:equivalentTo |
Amyotrophic lateral sclerosis |
|
|
MONDO:0868160 |
alström syndrome |
GARD:5787 |
MONDO:equivalentTo |
Alström syndrome |
|
|
MONDO:0868161 |
amelogenesis imperfecta |
GARD:5791 |
MONDO:equivalentTo |
Amelogenesis imperfecta |
|
|
MONDO:0868162 |
al amyloidosis |
GARD:5797 |
MONDO:equivalentTo |
AL amyloidosis |
|
|
MONDO:0868163 |
otopalatodigital syndrome type 2 |
GARD:5802 |
MONDO:equivalentTo |
Otopalatodigital syndrome type 2 |
|
|
MONDO:0868164 |
androgen insensitivity syndrome |
GARD:5803 |
MONDO:equivalentTo |
Androgen insensitivity syndrome |
|
|
MONDO:0868165 |
isolated anencephaly/exencephaly |
GARD:5808 |
MONDO:equivalentTo |
Isolated anencephaly/exencephaly |
|
|
MONDO:0868166 |
angelman syndrome |
GARD:5810 |
MONDO:equivalentTo |
Angelman syndrome |
|
|
MONDO:0868167 |
isolated aniridia |
GARD:5816 |
MONDO:equivalentTo |
Isolated aniridia |
|
|
MONDO:0868168 |
anodontia |
GARD:5818 |
MONDO:equivalentTo |
Anodontia |
|
|
MONDO:0868169 |
testicular agenesis |
GARD:5819 |
MONDO:equivalentTo |
Testicular agenesis |
|
|
MONDO:0868170 |
antiphospholipid syndrome |
GARD:5824 |
MONDO:equivalentTo |
Antiphospholipid syndrome |
|
|
MONDO:0868171 |
antley-bixler syndrome |
GARD:5826 |
MONDO:equivalentTo |
Antley-Bixler syndrome |
|
|
MONDO:0868172 |
aorta coarctation |
GARD:5828 |
MONDO:equivalentTo |
Aorta coarctation |
|
|
MONDO:0868173 |
short stature-webbed neck-heart disease syndrome |
GARD:583 |
MONDO:equivalentTo |
Short stature-webbed neck-heart disease syndrome |
|
|
MONDO:0868174 |
apert syndrome |
GARD:5833 |
MONDO:equivalentTo |
Apert syndrome |
|
|
MONDO:0868175 |
aplasia cutis congenita |
GARD:5835 |
MONDO:equivalentTo |
Aplasia cutis congenita |
|
|
MONDO:0868176 |
idiopathic aplastic anemia |
GARD:5836 |
MONDO:equivalentTo |
Idiopathic aplastic anemia |
|
|
MONDO:0868177 |
arachnoiditis |
GARD:5839 |
MONDO:equivalentTo |
Arachnoiditis |
|
|
MONDO:0868178 |
hirschsprung disease-nail hypoplasia-dysmorphism syndrome |
GARD:584 |
MONDO:equivalentTo |
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome |
|
|
MONDO:0868179 |
argininemia |
GARD:5840 |
MONDO:equivalentTo |
Argininemia |
|
|
MONDO:0868180 |
argininosuccinic aciduria |
GARD:5843 |
MONDO:equivalentTo |
Argininosuccinic aciduria |
|
|
MONDO:0868181 |
arrhythmogenic right ventricular cardiomyopathy |
GARD:5847 |
MONDO:equivalentTo |
Arrhythmogenic right ventricular cardiomyopathy |
|
|
MONDO:0868182 |
asbestos intoxication |
GARD:5852 |
MONDO:equivalentTo |
Asbestos intoxication |
|
|
MONDO:0868183 |
asherman syndrome |
GARD:5853 |
MONDO:equivalentTo |
Asherman syndrome |
|
|
MONDO:0868184 |
aspartylglucosaminuria |
GARD:5854 |
MONDO:equivalentTo |
Aspartylglucosaminuria |
|
|
MONDO:0868185 |
aspergillosis |
GARD:5856 |
MONDO:equivalentTo |
Aspergillosis |
|
|
MONDO:0868186 |
anaplastic astrocytoma |
GARD:5860 |
MONDO:equivalentTo |
Anaplastic astrocytoma |
|
|
MONDO:0868187 |
ataxia-telangiectasia |
GARD:5862 |
MONDO:equivalentTo |
Ataxia-telangiectasia |
|
|
MONDO:0868188 |
alpha-thalassemia-x-linked intellectual disability syndrome |
GARD:5864 |
MONDO:equivalentTo |
Alpha-thalassemia-X-linked intellectual disability syndrome |
|
|
MONDO:0868189 |
atrial septal defect, ostium secundum type |
GARD:5865 |
MONDO:equivalentTo |
Atrial septal defect, ostium secundum type |
|
|
MONDO:0868190 |
localized lipodystrophy |
GARD:5867 |
MONDO:equivalentTo |
Localized lipodystrophy |
|
|
MONDO:0868191 |
osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome |
GARD:587 |
MONDO:equivalentTo |
Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome |
|
|
MONDO:0868192 |
autoimmune hemolytic anemia |
GARD:5870 |
MONDO:equivalentTo |
Autoimmune hemolytic anemia |
|
|
MONDO:0868193 |
autoimmune hepatitis |
GARD:5871 |
MONDO:equivalentTo |
Autoimmune hepatitis |
|
|
MONDO:0868194 |
babesiosis |
GARD:5878 |
MONDO:equivalentTo |
Babesiosis |
|
|
MONDO:0868195 |
alar cartilages hypoplasia-coloboma-telecanthus syndrome |
GARD:588 |
MONDO:equivalentTo |
Alar cartilages hypoplasia-coloboma-telecanthus syndrome |
|
|
MONDO:0868196 |
baló concentric sclerosis |
GARD:5885 |
MONDO:equivalentTo |
Baló concentric sclerosis |
|
|
MONDO:0868197 |
bannayan-riley-ruvalcaba syndrome |
GARD:5887 |
MONDO:equivalentTo |
Bannayan-Riley-Ruvalcaba syndrome |
|
|
MONDO:0868198 |
albinism-deafness syndrome |
GARD:589 |
MONDO:equivalentTo |
Albinism-deafness syndrome |
|
|
MONDO:0868199 |
barth syndrome |
GARD:5890 |
MONDO:equivalentTo |
Barth syndrome |
|
|
MONDO:0868200 |
bartter syndrome |
GARD:5893 |
MONDO:equivalentTo |
Bartter syndrome |
|
|
MONDO:0868201 |
cln3 disease |
GARD:5897 |
MONDO:equivalentTo |
CLN3 disease |
|
|
MONDO:0868202 |
congenital myopathy |
GARD:5898 |
MONDO:equivalentTo |
Congenital myopathy |
|
|
MONDO:0868203 |
congenital contractural arachnodactyly |
GARD:5899 |
MONDO:equivalentTo |
Congenital contractural arachnodactyly |
|
|
MONDO:0868204 |
spinocerebellar ataxia type 34 |
GARD:59 |
MONDO:equivalentTo |
Spinocerebellar ataxia type 34 |
|
|
MONDO:0868205 |
becker muscular dystrophy |
GARD:5900 |
MONDO:equivalentTo |
Becker muscular dystrophy |
|
|
MONDO:0868206 |
diffuse astrocytoma |
GARD:5907 |
MONDO:equivalentTo |
Diffuse astrocytoma |
|
|
MONDO:0868207 |
mucous membrane pemphigoid |
GARD:5913 |
MONDO:equivalentTo |
Mucous membrane pemphigoid |
|
|
MONDO:0868208 |
ocular albinism with late-onset sensorineural deafness |
GARD:592 |
MONDO:equivalentTo |
Ocular albinism with late-onset sensorineural deafness |
|
|
MONDO:0868209 |
birdshot chorioretinopathy |
GARD:5926 |
MONDO:equivalentTo |
Birdshot chorioretinopathy |
|
|
MONDO:0868210 |
blue diaper syndrome |
GARD:5939 |
MONDO:equivalentTo |
Blue diaper syndrome |
|
|
MONDO:0868211 |
oculocutaneous albinism type 1b |
GARD:594 |
MONDO:equivalentTo |
Oculocutaneous albinism type 1B |
|
|
MONDO:0868212 |
blue rubber bleb nevus |
GARD:5940 |
MONDO:equivalentTo |
Blue rubber bleb nevus |
|
|
MONDO:0868213 |
bowen-conradi syndrome |
GARD:5950 |
MONDO:equivalentTo |
Bowen-Conradi syndrome |
|
|
MONDO:0868214 |
bronchiolitis obliterans with obstructive pulmonary disease |
GARD:5961 |
MONDO:equivalentTo |
Bronchiolitis obliterans with obstructive pulmonary disease |
|
|
MONDO:0868215 |
bronchopulmonary dysplasia |
GARD:5962 |
MONDO:equivalentTo |
Bronchopulmonary dysplasia |
|
|
MONDO:0868216 |
brucellosis |
GARD:5966 |
MONDO:equivalentTo |
Brucellosis |
|
|
MONDO:0868217 |
budd-chiari syndrome |
GARD:5968 |
MONDO:equivalentTo |
Budd-Chiari syndrome |
|
|
MONDO:0868218 |
buerger disease |
GARD:5969 |
MONDO:equivalentTo |
Buerger disease |
|
|
MONDO:0868219 |
bullous pemphigoid |
GARD:5972 |
MONDO:equivalentTo |
Bullous pemphigoid |
|
|
MONDO:0868220 |
burkitt lymphoma |
GARD:5973 |
MONDO:equivalentTo |
Burkitt lymphoma |
|
|
MONDO:0868221 |
burning mouth syndrome |
GARD:5974 |
MONDO:equivalentTo |
Burning mouth syndrome |
|
|
MONDO:0868222 |
scleredema |
GARD:5975 |
MONDO:equivalentTo |
Scleredema |
|
|
MONDO:0868223 |
c syndrome |
GARD:5978 |
MONDO:equivalentTo |
C syndrome |
|
|
MONDO:0868224 |
hereditary angioedema |
GARD:5979 |
MONDO:equivalentTo |
Hereditary angioedema |
|
|
MONDO:0868225 |
calciphylaxis |
GARD:5980 |
MONDO:equivalentTo |
Calciphylaxis |
|
|
MONDO:0868226 |
canavan disease |
GARD:5984 |
MONDO:equivalentTo |
Canavan disease |
|
|
MONDO:0868227 |
fetal alcohol syndrome |
GARD:599 |
MONDO:equivalentTo |
Fetal alcohol syndrome |
|
|
MONDO:0868228 |
carcinoid syndrome |
GARD:5994 |
MONDO:equivalentTo |
Carcinoid syndrome |
|
|
MONDO:0868229 |
acromesomelic dysplasia |
GARD:6 |
MONDO:equivalentTo |
Acromesomelic dysplasia |
|
|
MONDO:0868230 |
iridocorneal endothelial syndrome |
GARD:60 |
MONDO:equivalentTo |
Iridocorneal endothelial syndrome |
|
|
MONDO:0868231 |
glycogen storage disease due to aldolase a deficiency |
GARD:600 |
MONDO:equivalentTo |
Glycogen storage disease due to aldolase A deficiency |
|
|
MONDO:0868232 |
carnosinase deficiency |
GARD:6001 |
MONDO:equivalentTo |
Carnosinase deficiency |
|
|
MONDO:0868233 |
caroli disease |
GARD:6002 |
MONDO:equivalentTo |
Caroli disease |
|
|
MONDO:0868234 |
carpenter syndrome |
GARD:6003 |
MONDO:equivalentTo |
Carpenter syndrome |
|
|
MONDO:0868235 |
unicentric castleman disease |
GARD:6005 |
MONDO:equivalentTo |
Unicentric Castleman disease |
|
|
MONDO:0868236 |
caudal regression syndrome |
GARD:6007 |
MONDO:equivalentTo |
Caudal regression syndrome |
|
|
MONDO:0868237 |
macrocystic lymphatic malformation |
GARD:6010 |
MONDO:equivalentTo |
Macrocystic lymphatic malformation |
|
|
MONDO:0868238 |
bilateral perisylvian polymicrogyria |
GARD:6011 |
MONDO:equivalentTo |
Bilateral perisylvian polymicrogyria |
|
|
MONDO:0868239 |
central core disease |
GARD:6014 |
MONDO:equivalentTo |
Central core disease |
|
|
MONDO:0868240 |
central diabetes insipidus |
GARD:6015 |
MONDO:equivalentTo |
Central diabetes insipidus |
|
|
MONDO:0868241 |
allergic bronchopulmonary aspergillosis |
GARD:602 |
MONDO:equivalentTo |
Allergic bronchopulmonary aspergillosis |
|
|
MONDO:0868242 |
cerebrocostomandibular syndrome |
GARD:6026 |
MONDO:equivalentTo |
Cerebrocostomandibular syndrome |
|
|
MONDO:0868243 |
cofs syndrome |
GARD:6027 |
MONDO:equivalentTo |
COFS syndrome |
|
|
MONDO:0868244 |
chandler syndrome |
GARD:6033 |
MONDO:equivalentTo |
Chandler syndrome |
|
|
MONDO:0868245 |
charcot-marie-tooth disease/hereditary motor and sensory neuropathy |
GARD:6034 |
MONDO:equivalentTo |
Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy |
|
|
MONDO:0868246 |
chédiak-higashi syndrome |
GARD:6035 |
MONDO:equivalentTo |
Chédiak-Higashi syndrome |
|
|
MONDO:0868247 |
cherubism |
GARD:6036 |
MONDO:equivalentTo |
Cherubism |
|
|
MONDO:0868248 |
chikungunya |
GARD:6038 |
MONDO:equivalentTo |
Chikungunya |
|
|
MONDO:0868249 |
child syndrome |
GARD:6039 |
MONDO:equivalentTo |
CHILD syndrome |
|
|
MONDO:0868250 |
autosomal dominant palmoplantar keratoderma and congenital alopecia |
GARD:604 |
MONDO:equivalentTo |
Autosomal dominant palmoplantar keratoderma and congenital alopecia |
|
|
MONDO:0868251 |
childhood disintegrative disorder |
GARD:6040 |
MONDO:equivalentTo |
Childhood disintegrative disorder |
|
|
MONDO:0868252 |
cholera |
GARD:6043 |
MONDO:equivalentTo |
Cholera |
|
|
MONDO:0868253 |
rhizomelic chondrodysplasia punctata type 1 |
GARD:6049 |
MONDO:equivalentTo |
Rhizomelic chondrodysplasia punctata type 1 |
|
|
MONDO:0868254 |
alopecia-contractures-dwarfism-intellectual disability syndrome |
GARD:605 |
MONDO:equivalentTo |
Alopecia-contractures-dwarfism-intellectual disability syndrome |
|
|
MONDO:0868255 |
chondrosarcoma |
GARD:6055 |
MONDO:equivalentTo |
Chondrosarcoma |
|
|
MONDO:0868256 |
moynahan syndrome |
GARD:606 |
MONDO:equivalentTo |
Moynahan syndrome |
|
|
MONDO:0868257 |
choroideremia |
GARD:6061 |
MONDO:equivalentTo |
Choroideremia |
|
|
MONDO:0868258 |
chromophobe renal cell carcinoma |
GARD:6064 |
MONDO:equivalentTo |
Chromophobe renal cell carcinoma |
|
|
MONDO:0868259 |
ring chromosome 13 syndrome |
GARD:6069 |
MONDO:equivalentTo |
Ring chromosome 13 syndrome |
|
|
MONDO:0868260 |
alopecia-epilepsy-pyorrhea-intellectual disability syndrome |
GARD:607 |
MONDO:equivalentTo |
Alopecia-epilepsy-pyorrhea-intellectual disability syndrome |
|
|
MONDO:0868261 |
ring chromosome 14 syndrome |
GARD:6072 |
MONDO:equivalentTo |
Ring chromosome 14 syndrome |
|
|
MONDO:0868262 |
ring chromosome 18 syndrome |
GARD:6077 |
MONDO:equivalentTo |
Ring chromosome 18 syndrome |
|
|
MONDO:0868263 |
1p36 deletion syndrome |
GARD:6082 |
MONDO:equivalentTo |
1p36 deletion syndrome |
|
|
MONDO:0868264 |
ring chromosome 21 syndrome |
GARD:6083 |
MONDO:equivalentTo |
Ring chromosome 21 syndrome |
|
|
MONDO:0868265 |
mosaic trisomy 22 |
GARD:6085 |
MONDO:equivalentTo |
Mosaic trisomy 22 |
|
|
MONDO:0868266 |
trisomy 4p |
GARD:6091 |
MONDO:equivalentTo |
Trisomy 4p |
|
|
MONDO:0868267 |
trisomy 5p |
GARD:6093 |
MONDO:equivalentTo |
Trisomy 5p |
|
|
MONDO:0868268 |
ring chromosome 6 syndrome |
GARD:6095 |
MONDO:equivalentTo |
Ring chromosome 6 syndrome |
|
|
MONDO:0868269 |
femoral-facial syndrome |
GARD:61 |
MONDO:equivalentTo |
Femoral-facial syndrome |
|
|
MONDO:0868270 |
chronic granulomatous disease |
GARD:6100 |
MONDO:equivalentTo |
Chronic granulomatous disease |
|
|
MONDO:0868271 |
chronic inflammatory demyelinating polyneuropathy |
GARD:6102 |
MONDO:equivalentTo |
Chronic inflammatory demyelinating polyneuropathy |
|
|
MONDO:0868272 |
b-cell chronic lymphocytic leukemia |
GARD:6104 |
MONDO:equivalentTo |
B-cell chronic lymphocytic leukemia |
|
|
MONDO:0868273 |
chronic myeloid leukemia |
GARD:6105 |
MONDO:equivalentTo |
Chronic myeloid leukemia |
|
|
MONDO:0868274 |
chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis |
GARD:6108 |
MONDO:equivalentTo |
Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis |
|
|
MONDO:0868275 |
eosinophilic granulomatosis with polyangiitis |
GARD:6111 |
MONDO:equivalentTo |
Eosinophilic granulomatosis with polyangiitis |
|
|
MONDO:0868276 |
citrullinemia type i |
GARD:6114 |
MONDO:equivalentTo |
Citrullinemia type I |
|
|
MONDO:0868277 |
cleidocranial dysplasia |
GARD:6118 |
MONDO:equivalentTo |
Cleidocranial dysplasia |
|
|
MONDO:0868278 |
alopecia-intellectual disability syndrome |
GARD:612 |
MONDO:equivalentTo |
Alopecia-intellectual disability syndrome |
|
|
MONDO:0868279 |
coats disease |
GARD:6121 |
MONDO:equivalentTo |
Coats disease |
|
|
MONDO:0868280 |
cockayne syndrome |
GARD:6122 |
MONDO:equivalentTo |
Cockayne syndrome |
|
|
MONDO:0868281 |
coffin-lowry syndrome |
GARD:6123 |
MONDO:equivalentTo |
Coffin-Lowry syndrome |
|
|
MONDO:0868282 |
coffin-siris syndrome |
GARD:6124 |
MONDO:equivalentTo |
Coffin-Siris syndrome |
|
|
MONDO:0868283 |
cogan-reese syndrome |
GARD:6125 |
MONDO:equivalentTo |
Cogan-Reese syndrome |
|
|
MONDO:0868284 |
cohen syndrome |
GARD:6126 |
MONDO:equivalentTo |
Cohen syndrome |
|
|
MONDO:0868285 |
alopecia totalis |
GARD:613 |
MONDO:equivalentTo |
Alopecia totalis |
|
|
MONDO:0868286 |
cold agglutinin disease |
GARD:6130 |
MONDO:equivalentTo |
Cold agglutinin disease |
|
|
MONDO:0868287 |
alopecia universalis |
GARD:614 |
MONDO:equivalentTo |
Alopecia universalis |
|
|
MONDO:0868288 |
common variable immunodeficiency |
GARD:6140 |
MONDO:equivalentTo |
Common variable immunodeficiency |
|
|
MONDO:0868289 |
hereditary thrombophilia due to congenital antithrombin deficiency |
GARD:6148 |
MONDO:equivalentTo |
Hereditary thrombophilia due to congenital antithrombin deficiency |
|
|
MONDO:0868290 |
congenital fiber-type disproportion myopathy |
GARD:6161 |
MONDO:equivalentTo |
Congenital fiber-type disproportion myopathy |
|
|
MONDO:0868291 |
congenital heart block |
GARD:6164 |
MONDO:equivalentTo |
Congenital heart block |
|
|
MONDO:0868292 |
hepatoerythropoietic porphyria |
GARD:6169 |
MONDO:equivalentTo |
Hepatoerythropoietic porphyria |
|
|
MONDO:0868293 |
oxoglutaric aciduria |
GARD:617 |
MONDO:equivalentTo |
Oxoglutaric aciduria |
|
|
MONDO:0868294 |
x-linked dominant chondrodysplasia punctata |
GARD:6189 |
MONDO:equivalentTo |
X-linked dominant chondrodysplasia punctata |
|
|
MONDO:0868295 |
triatrial heart |
GARD:6194 |
MONDO:equivalentTo |
Triatrial heart |
|
|
MONDO:0868296 |
congenital hereditary endothelial dystrophy type ii |
GARD:6196 |
MONDO:equivalentTo |
Congenital hereditary endothelial dystrophy type II |
|
|
MONDO:0868297 |
filippi syndrome |
GARD:62 |
MONDO:equivalentTo |
Filippi syndrome |
|
|
MONDO:0868298 |
cowden syndrome |
GARD:6202 |
MONDO:equivalentTo |
Cowden syndrome |
|
|
MONDO:0868299 |
cramp-fasciculation syndrome |
GARD:6205 |
MONDO:equivalentTo |
Cramp-fasciculation syndrome |
|
|
MONDO:0868300 |
crouzon syndrome |
GARD:6206 |
MONDO:equivalentTo |
Crouzon syndrome |
|
|
MONDO:0868301 |
craniosynostosis |
GARD:6209 |
MONDO:equivalentTo |
Craniosynostosis |
|
|
MONDO:0868302 |
alpha-thalassemia |
GARD:621 |
MONDO:equivalentTo |
Alpha-thalassemia |
|
|
MONDO:0868303 |
monosomy 5p |
GARD:6213 |
MONDO:equivalentTo |
Monosomy 5p |
|
|
MONDO:0868304 |
simple cryoglobulinemia |
GARD:6217 |
MONDO:equivalentTo |
Simple cryoglobulinemia |
|
|
MONDO:0868305 |
cryptococcosis |
GARD:6218 |
MONDO:equivalentTo |
Cryptococcosis |
|
|
MONDO:0868306 |
cushing syndrome |
GARD:6224 |
MONDO:equivalentTo |
Cushing syndrome |
|
|
MONDO:0868307 |
rare cutaneous lupus erythematosus |
GARD:6225 |
MONDO:equivalentTo |
Rare cutaneous lupus erythematosus |
|
|
MONDO:0868308 |
primary cutaneous t-cell lymphoma |
GARD:6226 |
MONDO:equivalentTo |
Primary cutaneous T-cell lymphoma |
|
|
MONDO:0868309 |
cutis laxa |
GARD:6227 |
MONDO:equivalentTo |
Cutis laxa |
|
|
MONDO:0868310 |
cutis marmorata telangiectatica congenita |
GARD:6228 |
MONDO:equivalentTo |
Cutis marmorata telangiectatica congenita |
|
|
MONDO:0868311 |
cyclic neutropenia |
GARD:6229 |
MONDO:equivalentTo |
Cyclic neutropenia |
|
|
MONDO:0868312 |
cystic fibrosis |
GARD:6233 |
MONDO:equivalentTo |
Cystic fibrosis |
|
|
MONDO:0868313 |
cystinosis |
GARD:6236 |
MONDO:equivalentTo |
Cystinosis |
|
|
MONDO:0868314 |
cystinuria |
GARD:6237 |
MONDO:equivalentTo |
Cystinuria |
|
|
MONDO:0868315 |
autosomal dominant alport syndrome |
GARD:624 |
MONDO:equivalentTo |
Autosomal dominant Alport syndrome |
|
|
MONDO:0868316 |
isolated dandy-walker malformation |
GARD:6242 |
MONDO:equivalentTo |
Isolated Dandy-Walker malformation |
|
|
MONDO:0868317 |
darier disease |
GARD:6243 |
MONDO:equivalentTo |
Darier disease |
|
|
MONDO:0868318 |
malignant atrophic papulosis |
GARD:6249 |
MONDO:equivalentTo |
Malignant atrophic papulosis |
|
|
MONDO:0868319 |
autosomal recessive alport syndrome |
GARD:625 |
MONDO:equivalentTo |
Autosomal recessive Alport syndrome |
|
|
MONDO:0868320 |
dengue fever |
GARD:6254 |
MONDO:equivalentTo |
Dengue fever |
|
|
MONDO:0868321 |
dentinogenesis imperfecta |
GARD:6258 |
MONDO:equivalentTo |
Dentinogenesis imperfecta |
|
|
MONDO:0868322 |
dermatomyositis |
GARD:6263 |
MONDO:equivalentTo |
Dermatomyositis |
|
|
MONDO:0868323 |
desmoplastic small round cell tumor |
GARD:6265 |
MONDO:equivalentTo |
Desmoplastic small round cell tumor |
|
|
MONDO:0868324 |
neuromyelitis optica spectrum disorder |
GARD:6267 |
MONDO:equivalentTo |
Neuromyelitis optica spectrum disorder |
|
|
MONDO:0868325 |
blackfan-diamond anemia |
GARD:6274 |
MONDO:equivalentTo |
Blackfan-Diamond anemia |
|
|
MONDO:0868326 |
diastrophic dysplasia |
GARD:6275 |
MONDO:equivalentTo |
Diastrophic dysplasia |
|
|
MONDO:0868327 |
diencephalic syndrome |
GARD:6276 |
MONDO:equivalentTo |
Diencephalic syndrome |
|
|
MONDO:0868328 |
dracunculiasis |
GARD:6286 |
MONDO:equivalentTo |
Dracunculiasis |
|
|
MONDO:0868329 |
duane retraction syndrome |
GARD:6288 |
MONDO:equivalentTo |
Duane retraction syndrome |
|
|
MONDO:0868330 |
dubowitz syndrome |
GARD:6290 |
MONDO:equivalentTo |
Dubowitz syndrome |
|
|
MONDO:0868331 |
duchenne muscular dystrophy |
GARD:6291 |
MONDO:equivalentTo |
Duchenne muscular dystrophy |
|
|
MONDO:0868332 |
dyggve-melchior-clausen disease |
GARD:6295 |
MONDO:equivalentTo |
Dyggve-Melchior-Clausen disease |
|
|
MONDO:0868333 |
autosomal recessive generalized dystrophic epidermolysis bullosa, severe form |
GARD:6308 |
MONDO:equivalentTo |
Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form |
|
|
MONDO:0868334 |
eales disease |
GARD:6309 |
MONDO:equivalentTo |
Eales disease |
|
|
MONDO:0868335 |
ebstein malformation of the tricuspid valve |
GARD:6313 |
MONDO:equivalentTo |
Ebstein malformation of the tricuspid valve |
|
|
MONDO:0868336 |
ectodermal dysplasia syndrome |
GARD:6317 |
MONDO:equivalentTo |
Ectodermal dysplasia syndrome |
|
|
MONDO:0868337 |
isolated split hand-split foot malformation |
GARD:6319 |
MONDO:equivalentTo |
Isolated split hand-split foot malformation |
|
|
MONDO:0868338 |
trisomy 18 |
GARD:6321 |
MONDO:equivalentTo |
Trisomy 18 |
|
|
MONDO:0868339 |
ehlers-danlos syndrome |
GARD:6322 |
MONDO:equivalentTo |
Ehlers-Danlos syndrome |
|
|
MONDO:0868340 |
eisenmenger syndrome |
GARD:6323 |
MONDO:equivalentTo |
Eisenmenger syndrome |
|
|
MONDO:0868341 |
emery-dreifuss muscular dystrophy |
GARD:6329 |
MONDO:equivalentTo |
Emery-Dreifuss muscular dystrophy |
|
|
MONDO:0868342 |
encephalitis lethargica |
GARD:6332 |
MONDO:equivalentTo |
Encephalitis lethargica |
|
|
MONDO:0868343 |
isolated encephalocele |
GARD:6333 |
MONDO:equivalentTo |
Isolated encephalocele |
|
|
MONDO:0868344 |
endocardial fibroelastosis |
GARD:6336 |
MONDO:equivalentTo |
Endocardial fibroelastosis |
|
|
MONDO:0868345 |
infective endocarditis |
GARD:6337 |
MONDO:equivalentTo |
Infective endocarditis |
|
|
MONDO:0868346 |
endometrial stromal sarcoma |
GARD:6339 |
MONDO:equivalentTo |
Endometrial stromal sarcoma |
|
|
MONDO:0868347 |
leber congenital amaurosis |
GARD:634 |
MONDO:equivalentTo |
Leber congenital amaurosis |
|
|
MONDO:0868348 |
eosinophilic fasciitis |
GARD:6351 |
MONDO:equivalentTo |
Eosinophilic fasciitis |
|
|
MONDO:0868349 |
ependymoma |
GARD:6353 |
MONDO:equivalentTo |
Ependymoma |
|
|
MONDO:0868350 |
epidermodysplasia verruciformis |
GARD:6357 |
MONDO:equivalentTo |
Epidermodysplasia verruciformis |
|
|
MONDO:0868351 |
epidermolysis bullosa acquisita |
GARD:6360 |
MONDO:equivalentTo |
Epidermolysis bullosa acquisita |
|
|
MONDO:0868352 |
erdheim-chester disease |
GARD:6369 |
MONDO:equivalentTo |
Erdheim-Chester disease |
|
|
MONDO:0868353 |
amaurosis-hypertrichosis syndrome |
GARD:637 |
MONDO:equivalentTo |
Amaurosis-hypertrichosis syndrome |
|
|
MONDO:0868354 |
primary erythromelalgia |
GARD:6377 |
MONDO:equivalentTo |
Primary erythromelalgia |
|
|
MONDO:0868355 |
esophageal atresia |
GARD:6381 |
MONDO:equivalentTo |
Esophageal atresia |
|
|
MONDO:0868356 |
carcinoma of esophagus |
GARD:6383 |
MONDO:equivalentTo |
Carcinoma of esophagus |
|
|
MONDO:0868357 |
cryoglobulinemic vasculitis |
GARD:6386 |
MONDO:equivalentTo |
Cryoglobulinemic vasculitis |
|
|
MONDO:0868358 |
evans syndrome |
GARD:6389 |
MONDO:equivalentTo |
Evans syndrome |
|
|
MONDO:0868359 |
skeletal ewing sarcoma |
GARD:6390 |
MONDO:equivalentTo |
Skeletal Ewing sarcoma |
|
|
MONDO:0868360 |
bladder exstrophy |
GARD:6398 |
MONDO:equivalentTo |
Bladder exstrophy |
|
|
MONDO:0868361 |
fountain syndrome |
GARD:64 |
MONDO:equivalentTo |
Fountain syndrome |
|
|
MONDO:0868362 |
congenital amegakaryocytic thrombocytopenia |
GARD:640 |
MONDO:equivalentTo |
Congenital amegakaryocytic thrombocytopenia |
|
|
MONDO:0868363 |
fabry disease |
GARD:6400 |
MONDO:equivalentTo |
Fabry disease |
|
|
MONDO:0868364 |
congenital factor x deficiency |
GARD:6404 |
MONDO:equivalentTo |
Congenital factor X deficiency |
|
|
MONDO:0868365 |
acquired hemophilia a |
GARD:6405 |
MONDO:equivalentTo |
Acquired hemophilia A |
|
|
MONDO:0868366 |
bilateral striopallidodentate calcinosis |
GARD:6406 |
MONDO:equivalentTo |
Bilateral striopallidodentate calcinosis |
|
|
MONDO:0868367 |
familial adenomatous polyposis |
GARD:6408 |
MONDO:equivalentTo |
Familial adenomatous polyposis |
|
|
MONDO:0868368 |
familial chylomicronemia syndrome |
GARD:6414 |
MONDO:equivalentTo |
Familial chylomicronemia syndrome |
|
|
MONDO:0868369 |
familial mediterranean fever |
GARD:6421 |
MONDO:equivalentTo |
Familial Mediterranean fever |
|
|
MONDO:0868370 |
fanconi anemia |
GARD:6425 |
MONDO:equivalentTo |
Fanconi anemia |
|
|
MONDO:0868371 |
farber disease |
GARD:6426 |
MONDO:equivalentTo |
Farber disease |
|
|
MONDO:0868372 |
farmer's lung disease |
GARD:6427 |
MONDO:equivalentTo |
Farmer's lung disease |
|
|
MONDO:0868373 |
fatal familial insomnia |
GARD:6429 |
MONDO:equivalentTo |
Fatal familial insomnia |
|
|
MONDO:0868374 |
fetal hydantoin syndrome |
GARD:6435 |
MONDO:equivalentTo |
Fetal hydantoin syndrome |
|
|
MONDO:0868375 |
fibrous dysplasia of bone |
GARD:6444 |
MONDO:equivalentTo |
Fibrous dysplasia of bone |
|
|
MONDO:0868376 |
fibrodysplasia ossificans progressiva |
GARD:6445 |
MONDO:equivalentTo |
Fibrodysplasia ossificans progressiva |
|
|
MONDO:0868377 |
severe primary trimethylaminuria |
GARD:6447 |
MONDO:equivalentTo |
Severe primary trimethylaminuria |
|
|
MONDO:0868378 |
hypoplastic amelogenesis imperfecta |
GARD:645 |
MONDO:equivalentTo |
Hypoplastic amelogenesis imperfecta |
|
|
MONDO:0868379 |
fish-eye disease |
GARD:6450 |
MONDO:equivalentTo |
Fish-eye disease |
|
|
MONDO:0868380 |
floating-harbor syndrome |
GARD:6455 |
MONDO:equivalentTo |
Floating-Harbor syndrome |
|
|
MONDO:0868381 |
focal dermal hypoplasia |
GARD:6457 |
MONDO:equivalentTo |
Focal dermal hypoplasia |
|
|
MONDO:0868382 |
enamel-renal syndrome |
GARD:646 |
MONDO:equivalentTo |
Enamel-renal syndrome |
|
|
MONDO:0868383 |
fragile x syndrome |
GARD:6464 |
MONDO:equivalentTo |
Fragile X syndrome |
|
|
MONDO:0868384 |
fraser syndrome |
GARD:6465 |
MONDO:equivalentTo |
Fraser syndrome |
|
|
MONDO:0868385 |
freeman-sheldon syndrome |
GARD:6466 |
MONDO:equivalentTo |
Freeman-Sheldon syndrome |
|
|
MONDO:0868386 |
friedreich ataxia |
GARD:6468 |
MONDO:equivalentTo |
Friedreich ataxia |
|
|
MONDO:0868387 |
amelo-onycho-hypohidrotic syndrome |
GARD:647 |
MONDO:equivalentTo |
Amelo-onycho-hypohidrotic syndrome |
|
|
MONDO:0868388 |
essential fructosuria |
GARD:6471 |
MONDO:equivalentTo |
Essential fructosuria |
|
|
MONDO:0868389 |
fucosidosis |
GARD:6473 |
MONDO:equivalentTo |
Fucosidosis |
|
|
MONDO:0868390 |
congenital muscular dystrophy, fukuyama type |
GARD:6475 |
MONDO:equivalentTo |
Congenital muscular dystrophy, Fukuyama type |
|
|
MONDO:0868391 |
fumaric aciduria |
GARD:6476 |
MONDO:equivalentTo |
Fumaric aciduria |
|
|
MONDO:0868392 |
gm1 gangliosidosis type 1 |
GARD:6479 |
MONDO:equivalentTo |
GM1 gangliosidosis type 1 |
|
|
MONDO:0868393 |
autoerythrocyte sensitization syndrome |
GARD:6481 |
MONDO:equivalentTo |
Autoerythrocyte sensitization syndrome |
|
|
MONDO:0868394 |
gardner syndrome |
GARD:6482 |
MONDO:equivalentTo |
Gardner syndrome |
|
|
MONDO:0868395 |
malt lymphoma |
GARD:6485 |
MONDO:equivalentTo |
MALT lymphoma |
|
|
MONDO:0868396 |
pemphigoid gestationis |
GARD:6497 |
MONDO:equivalentTo |
Pemphigoid gestationis |
|
|
MONDO:0868397 |
gestational trophoblastic neoplasm |
GARD:6498 |
MONDO:equivalentTo |
Gestational trophoblastic neoplasm |
|
|
MONDO:0868398 |
galloway-mowat syndrome |
GARD:65 |
MONDO:equivalentTo |
Galloway-Mowat syndrome |
|
|
MONDO:0868399 |
giant axonal neuropathy |
GARD:6500 |
MONDO:equivalentTo |
Giant axonal neuropathy |
|
|
MONDO:0868400 |
pituitary gigantism |
GARD:6506 |
MONDO:equivalentTo |
Pituitary gigantism |
|
|
MONDO:0868401 |
glial tumor |
GARD:6513 |
MONDO:equivalentTo |
Glial tumor |
|
|
MONDO:0868402 |
gliomatosis cerebri |
GARD:6514 |
MONDO:equivalentTo |
Gliomatosis cerebri |
|
|
MONDO:0868403 |
glossopharyngeal neuralgia |
GARD:6519 |
MONDO:equivalentTo |
Glossopharyngeal neuralgia |
|
|
MONDO:0868404 |
class i glucose-6-phosphate dehydrogenase deficiency |
GARD:6520 |
MONDO:equivalentTo |
Class I glucose-6-phosphate dehydrogenase deficiency |
|
|
MONDO:0868405 |
glucose-galactose malabsorption |
GARD:6521 |
MONDO:equivalentTo |
Glucose-galactose malabsorption |
|
|
MONDO:0868406 |
glutaryl-coa dehydrogenase deficiency |
GARD:6522 |
MONDO:equivalentTo |
Glutaryl-CoA dehydrogenase deficiency |
|
|
MONDO:0868407 |
multiple acyl-coa dehydrogenase deficiency |
GARD:6523 |
MONDO:equivalentTo |
Multiple acyl-CoA dehydrogenase deficiency |
|
|
MONDO:0868408 |
glycogen storage disease due to muscle glycogen phosphorylase deficiency |
GARD:6528 |
MONDO:equivalentTo |
Glycogen storage disease due to muscle glycogen phosphorylase deficiency |
|
|
MONDO:0868409 |
glycogen storage disease due to liver glycogen phosphorylase deficiency |
GARD:6529 |
MONDO:equivalentTo |
Glycogen storage disease due to liver glycogen phosphorylase deficiency |
|
|
MONDO:0868410 |
beta-mercaptolactate cysteine disulfiduria |
GARD:654 |
MONDO:equivalentTo |
Beta-mercaptolactate cysteine disulfiduria |
|
|
MONDO:0868411 |
gorham-stout disease |
GARD:6542 |
MONDO:equivalentTo |
Gorham-Stout disease |
|
|
MONDO:0868412 |
acrogeria |
GARD:6543 |
MONDO:equivalentTo |
Acrogeria |
|
|
MONDO:0868413 |
acute graft versus host disease |
GARD:6544 |
MONDO:equivalentTo |
Acute graft versus host disease |
|
|
MONDO:0868414 |
greig cephalopolysyndactyly syndrome |
GARD:6550 |
MONDO:equivalentTo |
Greig cephalopolysyndactyly syndrome |
|
|
MONDO:0868415 |
guillain-barré syndrome |
GARD:6554 |
MONDO:equivalentTo |
Guillain-Barré syndrome |
|
|
MONDO:0868416 |
gyrate atrophy of choroid and retina |
GARD:6556 |
MONDO:equivalentTo |
Gyrate atrophy of choroid and retina |
|
|
MONDO:0868417 |
congenital factor xii deficiency |
GARD:6558 |
MONDO:equivalentTo |
Congenital factor XII deficiency |
|
|
MONDO:0868418 |
familial benign chronic pemphigus |
GARD:6559 |
MONDO:equivalentTo |
Familial benign chronic pemphigus |
|
|
MONDO:0868419 |
classic hairy cell leukemia |
GARD:6560 |
MONDO:equivalentTo |
Classic hairy cell leukemia |
|
|
MONDO:0868420 |
pantothenate kinase-associated neurodegeneration |
GARD:6564 |
MONDO:equivalentTo |
Pantothenate kinase-associated neurodegeneration |
|
|
MONDO:0868421 |
harlequin ichthyosis |
GARD:6568 |
MONDO:equivalentTo |
Harlequin ichthyosis |
|
|
MONDO:0868422 |
hartnup disease |
GARD:6569 |
MONDO:equivalentTo |
Hartnup disease |
|
|
MONDO:0868423 |
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome |
GARD:6571 |
MONDO:equivalentTo |
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome |
|
|
MONDO:0868424 |
sickle cell-hemoglobin c disease syndrome |
GARD:6584 |
MONDO:equivalentTo |
Sickle cell-hemoglobin C disease syndrome |
|
|
MONDO:0868425 |
shiga toxin-associated hemolytic uremic syndrome |
GARD:6588 |
MONDO:equivalentTo |
Shiga toxin-associated hemolytic uremic syndrome |
|
|
MONDO:0868426 |
familial hemophagocytic lymphohistiocytosis |
GARD:6589 |
MONDO:equivalentTo |
Familial hemophagocytic lymphohistiocytosis |
|
|
MONDO:0868427 |
hemophilia a |
GARD:6591 |
MONDO:equivalentTo |
Hemophilia A |
|
|
MONDO:0868428 |
essential thrombocythemia |
GARD:6594 |
MONDO:equivalentTo |
Essential thrombocythemia |
|
|
MONDO:0868429 |
gorlin-chaudhry-moss syndrome |
GARD:66 |
MONDO:equivalentTo |
Gorlin-Chaudhry-Moss syndrome |
|
|
MONDO:0868430 |
adult hepatocellular carcinoma |
GARD:6608 |
MONDO:equivalentTo |
Adult hepatocellular carcinoma |
|
|
MONDO:0868431 |
hereditary amyloidosis |
GARD:6611 |
MONDO:equivalentTo |
Hereditary amyloidosis |
|
|
MONDO:0868432 |
cln9 disease |
GARD:6618 |
MONDO:equivalentTo |
CLN9 disease |
|
|
MONDO:0868433 |
hereditary coproporphyria |
GARD:6619 |
MONDO:equivalentTo |
Hereditary coproporphyria |
|
|
MONDO:0868434 |
hereditary elliptocytosis |
GARD:6621 |
MONDO:equivalentTo |
Hereditary elliptocytosis |
|
|
MONDO:0868435 |
hereditary fructose intolerance |
GARD:6622 |
MONDO:equivalentTo |
Hereditary fructose intolerance |
|
|
MONDO:0868436 |
hereditary hemorrhagic telangiectasia |
GARD:6626 |
MONDO:equivalentTo |
Hereditary hemorrhagic telangiectasia |
|
|
MONDO:0868437 |
hereditary chronic pancreatitis |
GARD:6632 |
MONDO:equivalentTo |
Hereditary chronic pancreatitis |
|
|
MONDO:0868438 |
hereditary sensory and autonomic neuropathy type 1 |
GARD:6635 |
MONDO:equivalentTo |
Hereditary sensory and autonomic neuropathy type 1 |
|
|
MONDO:0868439 |
hereditary spastic paraplegia |
GARD:6637 |
MONDO:equivalentTo |
Hereditary spastic paraplegia |
|
|
MONDO:0868440 |
hereditary spherocytosis |
GARD:6639 |
MONDO:equivalentTo |
Hereditary spherocytosis |
|
|
MONDO:0868441 |
anaplastic thyroid carcinoma |
GARD:664 |
MONDO:equivalentTo |
Anaplastic thyroid carcinoma |
|
|
MONDO:0868442 |
hermansky-pudlak syndrome |
GARD:6643 |
MONDO:equivalentTo |
Hermansky-Pudlak syndrome |
|
|
MONDO:0868443 |
herpes simplex virus encephalitis |
GARD:6649 |
MONDO:equivalentTo |
Herpes simplex virus encephalitis |
|
|
MONDO:0868444 |
chronic hiccup |
GARD:6657 |
MONDO:equivalentTo |
Chronic hiccup |
|
|
MONDO:0868445 |
hirschsprung disease |
GARD:6660 |
MONDO:equivalentTo |
Hirschsprung disease |
|
|
MONDO:0868446 |
histidinemia |
GARD:6661 |
MONDO:equivalentTo |
Histidinemia |
|
|
MONDO:0868447 |
holoprosencephaly |
GARD:6665 |
MONDO:equivalentTo |
Holoprosencephaly |
|
|
MONDO:0868448 |
holt-oram syndrome |
GARD:6666 |
MONDO:equivalentTo |
Holt-Oram syndrome |
|
|
MONDO:0868449 |
classic homocystinuria |
GARD:6667 |
MONDO:equivalentTo |
Classic homocystinuria |
|
|
MONDO:0868450 |
congenital horner syndrome |
GARD:6670 |
MONDO:equivalentTo |
Congenital Horner syndrome |
|
|
MONDO:0868451 |
mucopolysaccharidosis type 2 |
GARD:6675 |
MONDO:equivalentTo |
Mucopolysaccharidosis type 2 |
|
|
MONDO:0868452 |
huntington disease |
GARD:6677 |
MONDO:equivalentTo |
Huntington disease |
|
|
MONDO:0868453 |
x-linked sideroblastic anemia and spinocerebellar ataxia |
GARD:668 |
MONDO:equivalentTo |
X-linked sideroblastic anemia and spinocerebellar ataxia |
|
|
MONDO:0868454 |
hydranencephaly |
GARD:6681 |
MONDO:equivalentTo |
Hydranencephaly |
|
|
MONDO:0868455 |
congenital hydrocephalus |
GARD:6682 |
MONDO:equivalentTo |
Congenital hydrocephalus |
|
|
MONDO:0868456 |
hydrolethalus |
GARD:6683 |
MONDO:equivalentTo |
Hydrolethalus |
|
|
MONDO:0868457 |
aneurysm of sinus of valsalva |
GARD:670 |
MONDO:equivalentTo |
Aneurysm of sinus of Valsalva |
|
|
MONDO:0868458 |
dysbetalipoproteinemia |
GARD:6703 |
MONDO:equivalentTo |
Dysbetalipoproteinemia |
|
|
MONDO:0868459 |
familial apolipoprotein a5 deficiency |
GARD:6704 |
MONDO:equivalentTo |
Familial apolipoprotein A5 deficiency |
|
|
MONDO:0868460 |
angel-shaped phalango-epiphyseal dysplasia |
GARD:671 |
MONDO:equivalentTo |
Angel-shaped phalango-epiphyseal dysplasia |
|
|
MONDO:0868461 |
hyperprolinemia type 2 |
GARD:6710 |
MONDO:equivalentTo |
Hyperprolinemia type 2 |
|
|
MONDO:0868462 |
hypochondroplasia |
GARD:6724 |
MONDO:equivalentTo |
Hypochondroplasia |
|
|
MONDO:0868463 |
hypocomplementemic urticarial vasculitis |
GARD:6725 |
MONDO:equivalentTo |
Hypocomplementemic urticarial vasculitis |
|
|
MONDO:0868464 |
hypokalemic periodic paralysis |
GARD:6729 |
MONDO:equivalentTo |
Hypokalemic periodic paralysis |
|
|
MONDO:0868465 |
hypophosphatasia |
GARD:6734 |
MONDO:equivalentTo |
Hypophosphatasia |
|
|
MONDO:0868466 |
hypophosphatemic rickets |
GARD:6735 |
MONDO:equivalentTo |
Hypophosphatemic rickets |
|
|
MONDO:0868467 |
hypoplastic left heart syndrome |
GARD:6739 |
MONDO:equivalentTo |
Hypoplastic left heart syndrome |
|
|
MONDO:0868468 |
mucolipidosis type ii |
GARD:6749 |
MONDO:equivalentTo |
Mucolipidosis type II |
|
|
MONDO:0868469 |
idiopathic pulmonary artery dilatation |
GARD:6757 |
MONDO:equivalentTo |
Idiopathic pulmonary artery dilatation |
|
|
MONDO:0868470 |
hereditary neurocutaneous malformation |
GARD:676 |
MONDO:equivalentTo |
Hereditary neurocutaneous malformation |
|
|
MONDO:0868471 |
idiopathic juvenile osteoporosis |
GARD:6760 |
MONDO:equivalentTo |
Idiopathic juvenile osteoporosis |
|
|
MONDO:0868472 |
idiopathic pulmonary hemosiderosis |
GARD:6763 |
MONDO:equivalentTo |
Idiopathic pulmonary hemosiderosis |
|
|
MONDO:0868473 |
incontinentia pigmenti |
GARD:6778 |
MONDO:equivalentTo |
Incontinentia pigmenti |
|
|
MONDO:0868474 |
infantile apnea |
GARD:6779 |
MONDO:equivalentTo |
Infantile apnea |
|
|
MONDO:0868475 |
fuchs heterochromic iridocyclitis |
GARD:6791 |
MONDO:equivalentTo |
Fuchs heterochromic iridocyclitis |
|
|
MONDO:0868476 |
isaacs syndrome |
GARD:6793 |
MONDO:equivalentTo |
Isaacs syndrome |
|
|
MONDO:0868477 |
right sided atrial isomerism |
GARD:6795 |
MONDO:equivalentTo |
Right sided atrial isomerism |
|
|
MONDO:0868478 |
jackson-weiss syndrome |
GARD:6796 |
MONDO:equivalentTo |
Jackson-Weiss syndrome |
|
|
MONDO:0868479 |
japanese encephalitis |
GARD:6797 |
MONDO:equivalentTo |
Japanese encephalitis |
|
|
MONDO:0868480 |
autosomal recessive spondylocostal dysostosis |
GARD:6798 |
MONDO:equivalentTo |
Autosomal recessive spondylocostal dysostosis |
|
|
MONDO:0868481 |
hypoglossia-hypodactyly syndrome |
GARD:68 |
MONDO:equivalentTo |
Hypoglossia-hypodactyly syndrome |
|
|
MONDO:0868482 |
autosomal dominant hyper-ige syndrome |
GARD:6800 |
MONDO:equivalentTo |
Autosomal dominant hyper-IgE syndrome |
|
|
MONDO:0868483 |
spinocerebellar ataxia type 3 |
GARD:6801 |
MONDO:equivalentTo |
Spinocerebellar ataxia type 3 |
|
|
MONDO:0868484 |
joubert syndrome |
GARD:6802 |
MONDO:equivalentTo |
Joubert syndrome |
|
|
MONDO:0868485 |
juvenile dermatomyositis |
GARD:6805 |
MONDO:equivalentTo |
Juvenile dermatomyositis |
|
|
MONDO:0868486 |
infantile systemic hyalinosis |
GARD:6807 |
MONDO:equivalentTo |
Infantile systemic hyalinosis |
|
|
MONDO:0868487 |
juvenile myoclonic epilepsy |
GARD:6808 |
MONDO:equivalentTo |
Juvenile myoclonic epilepsy |
|
|
MONDO:0868488 |
kabuki syndrome |
GARD:6810 |
MONDO:equivalentTo |
Kabuki syndrome |
|
|
MONDO:0868489 |
kaposi sarcoma |
GARD:6814 |
MONDO:equivalentTo |
Kaposi sarcoma |
|
|
MONDO:0868490 |
kawasaki disease |
GARD:6816 |
MONDO:equivalentTo |
Kawasaki disease |
|
|
MONDO:0868491 |
kearns-sayre syndrome |
GARD:6817 |
MONDO:equivalentTo |
Kearns-Sayre syndrome |
|
|
MONDO:0868492 |
kennedy disease |
GARD:6818 |
MONDO:equivalentTo |
Kennedy disease |
|
|
MONDO:0868493 |
muir-torre syndrome |
GARD:6821 |
MONDO:equivalentTo |
Muir-Torre syndrome |
|
|
MONDO:0868494 |
keratosis follicularis spinulosa decalvans |
GARD:6829 |
MONDO:equivalentTo |
Keratosis follicularis spinulosa decalvans |
|
|
MONDO:0868495 |
angiostrongyliasis |
GARD:683 |
MONDO:equivalentTo |
Angiostrongyliasis |
|
|
MONDO:0868496 |
bilirubin encephalopathy |
GARD:6830 |
MONDO:equivalentTo |
Bilirubin encephalopathy |
|
|
MONDO:0868497 |
kikuchi-fujimoto disease |
GARD:6834 |
MONDO:equivalentTo |
Kikuchi-Fujimoto disease |
|
|
MONDO:0868498 |
kimura disease |
GARD:6835 |
MONDO:equivalentTo |
Kimura disease |
|
|
MONDO:0868499 |
klüver-bucy syndrome |
GARD:6840 |
MONDO:equivalentTo |
Klüver-Bucy syndrome |
|
|
MONDO:0868500 |
kniest dysplasia |
GARD:6841 |
MONDO:equivalentTo |
Kniest dysplasia |
|
|
MONDO:0868501 |
osteochondrosis of the tarsal bone |
GARD:6842 |
MONDO:equivalentTo |
Osteochondrosis of the tarsal bone |
|
|
MONDO:0868502 |
krabbe disease |
GARD:6844 |
MONDO:equivalentTo |
Krabbe disease |
|
|
MONDO:0868503 |
cln4a disease |
GARD:6845 |
MONDO:equivalentTo |
CLN4A disease |
|
|
MONDO:0868504 |
lacrimoauriculodentodigital syndrome |
GARD:6848 |
MONDO:equivalentTo |
Lacrimoauriculodentodigital syndrome |
|
|
MONDO:0868505 |
aniridia-absent patella syndrome |
GARD:685 |
MONDO:equivalentTo |
Aniridia-absent patella syndrome |
|
|
MONDO:0868506 |
lambert-eaton myasthenic syndrome |
GARD:6851 |
MONDO:equivalentTo |
Lambert-Eaton myasthenic syndrome |
|
|
MONDO:0868507 |
landau-kleffner syndrome |
GARD:6855 |
MONDO:equivalentTo |
Landau-Kleffner syndrome |
|
|
MONDO:0868508 |
langerhans cell histiocytosis |
GARD:6858 |
MONDO:equivalentTo |
Langerhans cell histiocytosis |
|
|
MONDO:0868509 |
laron syndrome |
GARD:6859 |
MONDO:equivalentTo |
Laron syndrome |
|
|
MONDO:0868510 |
larsen syndrome |
GARD:6860 |
MONDO:equivalentTo |
Larsen syndrome |
|
|
MONDO:0868511 |
congenital laryngomalacia |
GARD:6865 |
MONDO:equivalentTo |
Congenital laryngomalacia |
|
|
MONDO:0868512 |
bardet-biedl syndrome |
GARD:6866 |
MONDO:equivalentTo |
Bardet-Biedl syndrome |
|
|
MONDO:0868513 |
long chain 3-hydroxyacyl-coa dehydrogenase deficiency |
GARD:6867 |
MONDO:equivalentTo |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
|
|
MONDO:0868514 |
leber hereditary optic neuropathy |
GARD:6870 |
MONDO:equivalentTo |
Leber hereditary optic neuropathy |
|
|
MONDO:0868515 |
ledderhose disease |
GARD:6873 |
MONDO:equivalentTo |
Ledderhose disease |
|
|
MONDO:0868516 |
legg-calvé-perthes disease |
GARD:6874 |
MONDO:equivalentTo |
Legg-Calvé-Perthes disease |
|
|
MONDO:0868517 |
legionnaires disease |
GARD:6876 |
MONDO:equivalentTo |
Legionnaires disease |
|
|
MONDO:0868518 |
leigh syndrome |
GARD:6877 |
MONDO:equivalentTo |
Leigh syndrome |
|
|
MONDO:0868519 |
erythroderma desquamativum |
GARD:6878 |
MONDO:equivalentTo |
Erythroderma desquamativum |
|
|
MONDO:0868520 |
leiomyosarcoma |
GARD:6880 |
MONDO:equivalentTo |
Leiomyosarcoma |
|
|
MONDO:0868521 |
leishmaniasis |
GARD:6881 |
MONDO:equivalentTo |
Leishmaniasis |
|
|
MONDO:0868522 |
lemierre syndrome |
GARD:6882 |
MONDO:equivalentTo |
Lemierre syndrome |
|
|
MONDO:0868523 |
leprechaunism |
GARD:6885 |
MONDO:equivalentTo |
Leprechaunism |
|
|
MONDO:0868524 |
leprosy |
GARD:6886 |
MONDO:equivalentTo |
Leprosy |
|
|
MONDO:0868525 |
aniridia-ptosis-intellectual disability-familial obesity syndrome |
GARD:689 |
MONDO:equivalentTo |
Aniridia-ptosis-intellectual disability-familial obesity syndrome |
|
|
MONDO:0868526 |
leukocyte adhesion deficiency type i |
GARD:6893 |
MONDO:equivalentTo |
Leukocyte adhesion deficiency type I |
|
|
MONDO:0868527 |
leukodystrophy |
GARD:6895 |
MONDO:equivalentTo |
Leukodystrophy |
|
|
MONDO:0868528 |
hantavirus pulmonary syndrome |
GARD:69 |
MONDO:equivalentTo |
Hantavirus pulmonary syndrome |
|
|
MONDO:0868529 |
aniridia-renal agenesis-psychomotor retardation syndrome |
GARD:690 |
MONDO:equivalentTo |
Aniridia-renal agenesis-psychomotor retardation syndrome |
|
|
MONDO:0868530 |
lhermitte-duclos disease |
GARD:6901 |
MONDO:equivalentTo |
Lhermitte-Duclos disease |
|
|
MONDO:0868531 |
li-fraumeni syndrome |
GARD:6902 |
MONDO:equivalentTo |
Li-Fraumeni syndrome |
|
|
MONDO:0868532 |
light chain deposition disease |
GARD:6906 |
MONDO:equivalentTo |
Light chain deposition disease |
|
|
MONDO:0868533 |
limb-girdle muscular dystrophy |
GARD:6907 |
MONDO:equivalentTo |
Limb-girdle muscular dystrophy |
|
|
MONDO:0868534 |
liposarcoma |
GARD:6913 |
MONDO:equivalentTo |
Liposarcoma |
|
|
MONDO:0868535 |
lissencephaly type 1 due to doublecortin gene mutation |
GARD:6914 |
MONDO:equivalentTo |
Lissencephaly type 1 due to doublecortin gene mutation |
|
|
MONDO:0868536 |
listeriosis |
GARD:6915 |
MONDO:equivalentTo |
Listeriosis |
|
|
MONDO:0868537 |
locked-in syndrome |
GARD:6919 |
MONDO:equivalentTo |
Locked-in syndrome |
|
|
MONDO:0868538 |
anisakiasis |
GARD:693 |
MONDO:equivalentTo |
Anisakiasis |
|
|
MONDO:0868539 |
jessner lymphocytic infiltration of the skin |
GARD:6940 |
MONDO:equivalentTo |
Jessner lymphocytic infiltration of the skin |
|
|
MONDO:0868540 |
lymphomatoid granulomatosis |
GARD:6943 |
MONDO:equivalentTo |
Lymphomatoid granulomatosis |
|
|
MONDO:0868541 |
lymphomatoid papulosis |
GARD:6944 |
MONDO:equivalentTo |
Lymphomatoid papulosis |
|
|
MONDO:0868542 |
megalencephaly-capillary malformation-polymicrogyria syndrome |
GARD:6950 |
MONDO:equivalentTo |
Megalencephaly-capillary malformation-polymicrogyria syndrome |
|
|
MONDO:0868543 |
macrodactyly of toes |
GARD:6951 |
MONDO:equivalentTo |
Macrodactyly of toes |
|
|
MONDO:0868544 |
macular corneal dystrophy |
GARD:6953 |
MONDO:equivalentTo |
Macular corneal dystrophy |
|
|
MONDO:0868545 |
sporadic creutzfeldt-jakob disease |
GARD:6956 |
MONDO:equivalentTo |
Sporadic Creutzfeldt-Jakob disease |
|
|
MONDO:0868546 |
multiple symmetric lipomatosis |
GARD:6957 |
MONDO:equivalentTo |
Multiple symmetric lipomatosis |
|
|
MONDO:0868547 |
maffucci syndrome |
GARD:6958 |
MONDO:equivalentTo |
Maffucci syndrome |
|
|
MONDO:0868548 |
mal de débarquement |
GARD:6959 |
MONDO:equivalentTo |
Mal de débarquement |
|
|
MONDO:0868549 |
ankyloblepharon filiforme adnatum-cleft palate syndrome |
GARD:696 |
MONDO:equivalentTo |
Ankyloblepharon filiforme adnatum-cleft palate syndrome |
|
|
MONDO:0868550 |
malakoplakia |
GARD:6960 |
MONDO:equivalentTo |
Malakoplakia |
|
|
MONDO:0868551 |
malaria |
GARD:6961 |
MONDO:equivalentTo |
Malaria |
|
|
MONDO:0868552 |
undifferentiated pleomorphic sarcoma |
GARD:6963 |
MONDO:equivalentTo |
Undifferentiated pleomorphic sarcoma |
|
|
MONDO:0868553 |
malignant hyperthermia of anesthesia |
GARD:6964 |
MONDO:equivalentTo |
Malignant hyperthermia of anesthesia |
|
|
MONDO:0868554 |
alpha-mannosidosis |
GARD:6968 |
MONDO:equivalentTo |
Alpha-mannosidosis |
|
|
MONDO:0868555 |
mantle cell lymphoma |
GARD:6969 |
MONDO:equivalentTo |
Mantle cell lymphoma |
|
|
MONDO:0868556 |
ankyloblepharon filiforme adnatum-imperforate anus syndrome |
GARD:697 |
MONDO:equivalentTo |
Ankyloblepharon filiforme adnatum-imperforate anus syndrome |
|
|
MONDO:0868557 |
marchiafava-bignami disease |
GARD:6971 |
MONDO:equivalentTo |
Marchiafava-Bignami disease |
|
|
MONDO:0868558 |
marcus-gunn syndrome |
GARD:6972 |
MONDO:equivalentTo |
Marcus-Gunn syndrome |
|
|
MONDO:0868559 |
marden-walker syndrome |
GARD:6973 |
MONDO:equivalentTo |
Marden-Walker syndrome |
|
|
MONDO:0868560 |
marfan syndrome type 1 |
GARD:6975 |
MONDO:equivalentTo |
Marfan syndrome type 1 |
|
|
MONDO:0868561 |
marshall syndrome |
GARD:6984 |
MONDO:equivalentTo |
Marshall syndrome |
|
|
MONDO:0868562 |
marshall-smith syndrome |
GARD:6985 |
MONDO:equivalentTo |
Marshall-Smith syndrome |
|
|
MONDO:0868563 |
masa syndrome |
GARD:6986 |
MONDO:equivalentTo |
MASA syndrome |
|
|
MONDO:0868564 |
mastocytosis |
GARD:6987 |
MONDO:equivalentTo |
Mastocytosis |
|
|
MONDO:0868565 |
maxillonasal dysplasia |
GARD:6992 |
MONDO:equivalentTo |
Maxillonasal dysplasia |
|
|
MONDO:0868566 |
mccune-albright syndrome |
GARD:6995 |
MONDO:equivalentTo |
McCune-Albright syndrome |
|
|
MONDO:0868567 |
cartilage-hair hypoplasia |
GARD:6996 |
MONDO:equivalentTo |
Cartilage-hair hypoplasia |
|
|
MONDO:0868568 |
acromicric dysplasia |
GARD:7 |
MONDO:equivalentTo |
Acromicric dysplasia |
|
|
MONDO:0868569 |
kasabach-merritt syndrome |
GARD:70 |
MONDO:equivalentTo |
Kasabach-Merritt syndrome |
|
|
MONDO:0868570 |
muc1-related autosomal dominant tubulointerstitial kidney disease |
GARD:7002 |
MONDO:equivalentTo |
MUC1-related autosomal dominant tubulointerstitial kidney disease |
|
|
MONDO:0868571 |
medullary thyroid carcinoma |
GARD:7004 |
MONDO:equivalentTo |
Medullary thyroid carcinoma |
|
|
MONDO:0868572 |
medulloblastoma |
GARD:7005 |
MONDO:equivalentTo |
Medulloblastoma |
|
|
MONDO:0868573 |
imerslund-gräsbeck syndrome |
GARD:7006 |
MONDO:equivalentTo |
Imerslund-Gräsbeck syndrome |
|
|
MONDO:0868574 |
blepharospasm-oromandibular dystonia syndrome |
GARD:7008 |
MONDO:equivalentTo |
Blepharospasm-oromandibular dystonia syndrome |
|
|
MONDO:0868575 |
melas |
GARD:7009 |
MONDO:equivalentTo |
MELAS |
|
|
MONDO:0868576 |
dental ankylosis |
GARD:701 |
MONDO:equivalentTo |
Dental ankylosis |
|
|
MONDO:0868577 |
melkersson-rosenthal syndrome |
GARD:7010 |
MONDO:equivalentTo |
Melkersson-Rosenthal syndrome |
|
|
MONDO:0868578 |
melnick-needles syndrome |
GARD:7011 |
MONDO:equivalentTo |
Melnick-Needles syndrome |
|
|
MONDO:0868579 |
meningioma |
GARD:7015 |
MONDO:equivalentTo |
Meningioma |
|
|
MONDO:0868580 |
mercury poisoning |
GARD:7021 |
MONDO:equivalentTo |
Mercury poisoning |
|
|
MONDO:0868581 |
pleural mesothelioma |
GARD:7026 |
MONDO:equivalentTo |
Pleural mesothelioma |
|
|
MONDO:0868582 |
metaphyseal chondrodysplasia, schmid type |
GARD:7029 |
MONDO:equivalentTo |
Metaphyseal chondrodysplasia, Schmid type |
|
|
MONDO:0868583 |
multiple osteochondromas |
GARD:7035 |
MONDO:equivalentTo |
Multiple osteochondromas |
|
|
MONDO:0868584 |
microvillus inclusion disease |
GARD:7039 |
MONDO:equivalentTo |
Microvillus inclusion disease |
|
|
MONDO:0868585 |
extranodal nasal nk/t cell lymphoma |
GARD:7041 |
MONDO:equivalentTo |
Extranodal nasal NK/T cell lymphoma |
|
|
MONDO:0868586 |
igg4-related dacryoadenitis and sialadenitis |
GARD:7043 |
MONDO:equivalentTo |
IgG4-related dacryoadenitis and sialadenitis |
|
|
MONDO:0868587 |
annular pancreas |
GARD:705 |
MONDO:equivalentTo |
Annular pancreas |
|
|
MONDO:0868588 |
mixed connective tissue disease |
GARD:7051 |
MONDO:equivalentTo |
Mixed connective tissue disease |
|
|
MONDO:0868589 |
localized scleroderma |
GARD:7058 |
MONDO:equivalentTo |
Localized scleroderma |
|
|
MONDO:0868590 |
moyamoya disease |
GARD:7064 |
MONDO:equivalentTo |
Moyamoya disease |
|
|
MONDO:0868591 |
mucopolysaccharidosis |
GARD:7065 |
MONDO:equivalentTo |
Mucopolysaccharidosis |
|
|
MONDO:0868592 |
sanfilippo syndrome type a |
GARD:7071 |
MONDO:equivalentTo |
Sanfilippo syndrome type A |
|
|
MONDO:0868593 |
sanfilippo syndrome type b |
GARD:7072 |
MONDO:equivalentTo |
Sanfilippo syndrome type B |
|
|
MONDO:0868594 |
sanfilippo syndrome type c |
GARD:7073 |
MONDO:equivalentTo |
Sanfilippo syndrome type C |
|
|
MONDO:0868595 |
sanfilippo syndrome type d |
GARD:7074 |
MONDO:equivalentTo |
Sanfilippo syndrome type D |
|
|
MONDO:0868596 |
multiple system atrophy |
GARD:7079 |
MONDO:equivalentTo |
Multiple system atrophy |
|
|
MONDO:0868597 |
mucopolysaccharidosis type 6 |
GARD:7095 |
MONDO:equivalentTo |
Mucopolysaccharidosis type 6 |
|
|
MONDO:0868598 |
mucopolysaccharidosis type 7 |
GARD:7096 |
MONDO:equivalentTo |
Mucopolysaccharidosis type 7 |
|
|
MONDO:0868599 |
muenke syndrome |
GARD:7097 |
MONDO:equivalentTo |
Muenke syndrome |
|
|
MONDO:0868600 |
anonychia-onychodystrophy syndrome |
GARD:710 |
MONDO:equivalentTo |
Anonychia-onychodystrophy syndrome |
|
|
MONDO:0868601 |
müllerian aplasia |
GARD:7100 |
MONDO:equivalentTo |
Müllerian aplasia |
|
|
MONDO:0868602 |
multicentric reticulohistiocytosis |
GARD:7103 |
MONDO:equivalentTo |
Multicentric reticulohistiocytosis |
|
|
MONDO:0868603 |
multiple myeloma |
GARD:7108 |
MONDO:equivalentTo |
Multiple myeloma |
|
|
MONDO:0868604 |
autosomal recessive multiple pterygium syndrome |
GARD:7111 |
MONDO:equivalentTo |
Autosomal recessive multiple pterygium syndrome |
|
|
MONDO:0868605 |
myasthenia gravis |
GARD:7122 |
MONDO:equivalentTo |
Myasthenia gravis |
|
|
MONDO:0868606 |
matthew-wood syndrome |
GARD:713 |
MONDO:equivalentTo |
Matthew-Wood syndrome |
|
|
MONDO:0868607 |
myelodysplastic syndrome |
GARD:7132 |
MONDO:equivalentTo |
Myelodysplastic syndrome |
|
|
MONDO:0868608 |
myoclonus-dystonia syndrome |
GARD:7139 |
MONDO:equivalentTo |
Myoclonus-dystonia syndrome |
|
|
MONDO:0868609 |
progressive myoclonic epilepsy |
GARD:7140 |
MONDO:equivalentTo |
Progressive myoclonic epilepsy |
|
|
MONDO:0868610 |
merrf |
GARD:7144 |
MONDO:equivalentTo |
MERRF |
|
|
MONDO:0868611 |
inflammatory myofibroblastic tumor |
GARD:7146 |
MONDO:equivalentTo |
Inflammatory myofibroblastic tumor |
|
|
MONDO:0868612 |
hyaline body myopathy |
GARD:7148 |
MONDO:equivalentTo |
Hyaline body myopathy |
|
|
MONDO:0868613 |
myxoid/round cell liposarcoma |
GARD:7157 |
MONDO:equivalentTo |
Myxoid/round cell liposarcoma |
|
|
MONDO:0868614 |
hyperammonemia due to n-acetylglutamate synthase deficiency |
GARD:7158 |
MONDO:equivalentTo |
Hyperammonemia due to N-acetylglutamate synthase deficiency |
|
|
MONDO:0868615 |
nail-patella syndrome |
GARD:7160 |
MONDO:equivalentTo |
Nail-patella syndrome |
|
|
MONDO:0868616 |
nance-horan syndrome |
GARD:7161 |
MONDO:equivalentTo |
Nance-Horan syndrome |
|
|
MONDO:0868617 |
narcolepsy type 1 |
GARD:7162 |
MONDO:equivalentTo |
Narcolepsy type 1 |
|
|
MONDO:0868618 |
nasopharyngeal carcinoma |
GARD:7163 |
MONDO:equivalentTo |
Nasopharyngeal carcinoma |
|
|
MONDO:0868619 |
gorlin syndrome |
GARD:7166 |
MONDO:equivalentTo |
Gorlin syndrome |
|
|
MONDO:0868620 |
anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome |
GARD:717 |
MONDO:equivalentTo |
Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome |
|
|
MONDO:0868621 |
nelson syndrome |
GARD:7170 |
MONDO:equivalentTo |
Nelson syndrome |
|
|
MONDO:0868622 |
childhood-onset nemaline myopathy |
GARD:7171 |
MONDO:equivalentTo |
Childhood-onset nemaline myopathy |
|
|
MONDO:0868623 |
neonatal hemochromatosis |
GARD:7172 |
MONDO:equivalentTo |
Neonatal hemochromatosis |
|
|
MONDO:0868624 |
nephrogenic diabetes insipidus |
GARD:7178 |
MONDO:equivalentTo |
Nephrogenic diabetes insipidus |
|
|
MONDO:0868625 |
benign peripheral nerve sheath tumor |
GARD:7180 |
MONDO:equivalentTo |
Benign peripheral nerve sheath tumor |
|
|
MONDO:0868626 |
netherton syndrome |
GARD:7182 |
MONDO:equivalentTo |
Netherton syndrome |
|
|
MONDO:0868627 |
sialidosis type 2 |
GARD:7183 |
MONDO:equivalentTo |
Sialidosis type 2 |
|
|
MONDO:0868628 |
neuroblastoma |
GARD:7185 |
MONDO:equivalentTo |
Neuroblastoma |
|
|
MONDO:0868629 |
neurocutaneous melanocytosis |
GARD:7186 |
MONDO:equivalentTo |
Neurocutaneous melanocytosis |
|
|
MONDO:0868630 |
anophthalmia plus syndrome |
GARD:719 |
MONDO:equivalentTo |
Anophthalmia plus syndrome |
|
|
MONDO:0868631 |
neurofibroma |
GARD:7191 |
MONDO:equivalentTo |
Neurofibroma |
|
|
MONDO:0868632 |
neurofibromatosis type 2 |
GARD:7193 |
MONDO:equivalentTo |
Neurofibromatosis type 2 |
|
|
MONDO:0868633 |
neuroleptic malignant syndrome |
GARD:7195 |
MONDO:equivalentTo |
Neuroleptic malignant syndrome |
|
|
MONDO:0868634 |
thymic aplasia |
GARD:7201 |
MONDO:equivalentTo |
Thymic aplasia |
|
|
MONDO:0868635 |
infantile neurovisceral acid sphingomyelinase deficiency |
GARD:7206 |
MONDO:equivalentTo |
Infantile neurovisceral acid sphingomyelinase deficiency |
|
|
MONDO:0868636 |
niemann-pick disease type c |
GARD:7207 |
MONDO:equivalentTo |
Niemann-Pick disease type C |
|
|
MONDO:0868637 |
nocardiosis |
GARD:7210 |
MONDO:equivalentTo |
Nocardiosis |
|
|
MONDO:0868638 |
glycine encephalopathy |
GARD:7219 |
MONDO:equivalentTo |
Glycine encephalopathy |
|
|
MONDO:0868639 |
microphthalmia with limb anomalies |
GARD:722 |
MONDO:equivalentTo |
Microphthalmia with limb anomalies |
|
|
MONDO:0868640 |
milroy disease |
GARD:7220 |
MONDO:equivalentTo |
Milroy disease |
|
|
MONDO:0868641 |
norrie disease |
GARD:7224 |
MONDO:equivalentTo |
Norrie disease |
|
|
MONDO:0868642 |
lesch-nyhan syndrome |
GARD:7226 |
MONDO:equivalentTo |
Lesch-Nyhan syndrome |
|
|
MONDO:0868643 |
oculodentodigital dysplasia |
GARD:7239 |
MONDO:equivalentTo |
Oculodentodigital dysplasia |
|
|
MONDO:0868644 |
oculopharyngeal muscular dystrophy |
GARD:7245 |
MONDO:equivalentTo |
Oculopharyngeal muscular dystrophy |
|
|
MONDO:0868645 |
ollier disease |
GARD:7251 |
MONDO:equivalentTo |
Ollier disease |
|
|
MONDO:0868646 |
onchocerciasis |
GARD:7252 |
MONDO:equivalentTo |
Onchocerciasis |
|
|
MONDO:0868647 |
oral submucous fibrosis |
GARD:7264 |
MONDO:equivalentTo |
Oral submucous fibrosis |
|
|
MONDO:0868648 |
carbamoyl-phosphate synthetase 1 deficiency |
GARD:7269 |
MONDO:equivalentTo |
Carbamoyl-phosphate synthetase 1 deficiency |
|
|
MONDO:0868649 |
osteosarcoma |
GARD:7284 |
MONDO:equivalentTo |
Osteosarcoma |
|
|
MONDO:0868650 |
ovarian cancer |
GARD:7295 |
MONDO:equivalentTo |
Ovarian cancer |
|
|
MONDO:0868651 |
malignant mixed müllerian tumor of the ovary |
GARD:7296 |
MONDO:equivalentTo |
Malignant mixed Müllerian tumor of the ovary |
|
|
MONDO:0868652 |
pachydermoperiostosis |
GARD:7299 |
MONDO:equivalentTo |
Pachydermoperiostosis |
|
|
MONDO:0868653 |
x-linked hyper-igm syndrome |
GARD:73 |
MONDO:equivalentTo |
X-linked hyper-IgM syndrome |
|
|
MONDO:0868654 |
anti-hla hyperimmunization |
GARD:730 |
MONDO:equivalentTo |
Anti-HLA hyperimmunization |
|
|
MONDO:0868655 |
paget disease of the nipple |
GARD:7303 |
MONDO:equivalentTo |
Paget disease of the nipple |
|
|
MONDO:0868656 |
pallister-hall syndrome |
GARD:7305 |
MONDO:equivalentTo |
Pallister-Hall syndrome |
|
|
MONDO:0868657 |
congenital alpha2-antiplasmin deficiency |
GARD:731 |
MONDO:equivalentTo |
Congenital alpha2-antiplasmin deficiency |
|
|
MONDO:0868658 |
pandas |
GARD:7312 |
MONDO:equivalentTo |
PANDAS |
|
|
MONDO:0868659 |
localized lichen myxedematosus |
GARD:7321 |
MONDO:equivalentTo |
Localized lichen myxedematosus |
|
|
MONDO:0868660 |
paracoccidioidomycosis |
GARD:7323 |
MONDO:equivalentTo |
Paracoccidioidomycosis |
|
|
MONDO:0868661 |
paramyotonia congenita of von eulenburg |
GARD:7325 |
MONDO:equivalentTo |
Paramyotonia congenita of Von Eulenburg |
|
|
MONDO:0868662 |
paraneoplastic neurologic syndrome |
GARD:7326 |
MONDO:equivalentTo |
Paraneoplastic neurologic syndrome |
|
|
MONDO:0868663 |
parathyroid carcinoma |
GARD:7329 |
MONDO:equivalentTo |
Parathyroid carcinoma |
|
|
MONDO:0868664 |
paroxysmal cold hemoglobinuria |
GARD:7335 |
MONDO:equivalentTo |
Paroxysmal cold hemoglobinuria |
|
|
MONDO:0868665 |
paroxysmal nocturnal hemoglobinuria |
GARD:7337 |
MONDO:equivalentTo |
Paroxysmal nocturnal hemoglobinuria |
|
|
MONDO:0868666 |
progressive hemifacial atrophy |
GARD:7338 |
MONDO:equivalentTo |
Progressive hemifacial atrophy |
|
|
MONDO:0868667 |
trisomy 13 |
GARD:7341 |
MONDO:equivalentTo |
Trisomy 13 |
|
|
MONDO:0868668 |
pearson syndrome |
GARD:7343 |
MONDO:equivalentTo |
Pearson syndrome |
|
|
MONDO:0868669 |
peeling skin syndrome |
GARD:7347 |
MONDO:equivalentTo |
Peeling skin syndrome |
|
|
MONDO:0868670 |
antisynthetase syndrome |
GARD:735 |
MONDO:equivalentTo |
Antisynthetase syndrome |
|
|
MONDO:0868671 |
pemphigus foliaceus |
GARD:7354 |
MONDO:equivalentTo |
Pemphigus foliaceus |
|
|
MONDO:0868672 |
pemphigus vulgaris |
GARD:7355 |
MONDO:equivalentTo |
Pemphigus vulgaris |
|
|
MONDO:0868673 |
pentalogy of cantrell |
GARD:7359 |
MONDO:equivalentTo |
Pentalogy of Cantrell |
|
|
MONDO:0868674 |
polyarteritis nodosa |
GARD:7360 |
MONDO:equivalentTo |
Polyarteritis nodosa |
|
|
MONDO:0868675 |
peters anomaly |
GARD:7377 |
MONDO:equivalentTo |
Peters anomaly |
|
|
MONDO:0868676 |
peutz-jeghers syndrome |
GARD:7378 |
MONDO:equivalentTo |
Peutz-Jeghers syndrome |
|
|
MONDO:0868677 |
congenital aortopulmonary window |
GARD:738 |
MONDO:equivalentTo |
Congenital aortopulmonary window |
|
|
MONDO:0868678 |
pfeiffer syndrome |
GARD:7380 |
MONDO:equivalentTo |
Pfeiffer syndrome |
|
|
MONDO:0868679 |
liddle syndrome |
GARD:7381 |
MONDO:equivalentTo |
Liddle syndrome |
|
|
MONDO:0868680 |
phenylketonuria |
GARD:7383 |
MONDO:equivalentTo |
Phenylketonuria |
|
|
MONDO:0868681 |
sporadic pheochromocytoma/secreting paraganglioma |
GARD:7385 |
MONDO:equivalentTo |
Sporadic pheochromocytoma/secreting paraganglioma |
|
|
MONDO:0868682 |
roberts syndrome |
GARD:7387 |
MONDO:equivalentTo |
Roberts syndrome |
|
|
MONDO:0868683 |
glycogen storage disease due to phosphoglycerate kinase 1 deficiency |
GARD:7389 |
MONDO:equivalentTo |
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency |
|
|
MONDO:0868684 |
aortic arch anomaly-facial dysmorphism-intellectual disability syndrome |
GARD:739 |
MONDO:equivalentTo |
Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome |
|
|
MONDO:0868685 |
behavioral variant of frontotemporal dementia |
GARD:7392 |
MONDO:equivalentTo |
Behavioral variant of frontotemporal dementia |
|
|
MONDO:0868686 |
tenosynovial giant cell tumor |
GARD:7396 |
MONDO:equivalentTo |
Tenosynovial giant cell tumor |
|
|
MONDO:0868687 |
isolated growth hormone deficiency type ia |
GARD:7399 |
MONDO:equivalentTo |
Isolated growth hormone deficiency type IA |
|
|
MONDO:0868688 |
aortic arch interruption |
GARD:740 |
MONDO:equivalentTo |
Aortic arch interruption |
|
|
MONDO:0868689 |
pityriasis rubra pilaris |
GARD:7401 |
MONDO:equivalentTo |
Pityriasis rubra pilaris |
|
|
MONDO:0868690 |
placental site trophoblastic tumor |
GARD:7403 |
MONDO:equivalentTo |
Placental site trophoblastic tumor |
|
|
MONDO:0868691 |
aortic arch defects |
GARD:741 |
MONDO:equivalentTo |
Aortic arch defects |
|
|
MONDO:0868692 |
poems syndrome |
GARD:7411 |
MONDO:equivalentTo |
POEMS syndrome |
|
|
MONDO:0868693 |
poland syndrome |
GARD:7412 |
MONDO:equivalentTo |
Poland syndrome |
|
|
MONDO:0868694 |
poliomyelitis |
GARD:7413 |
MONDO:equivalentTo |
Poliomyelitis |
|
|
MONDO:0868695 |
cutaneous polyarteritis nodosa |
GARD:7415 |
MONDO:equivalentTo |
Cutaneous polyarteritis nodosa |
|
|
MONDO:0868696 |
relapsing polychondritis |
GARD:7417 |
MONDO:equivalentTo |
Relapsing polychondritis |
|
|
MONDO:0868697 |
polycythemia vera |
GARD:7422 |
MONDO:equivalentTo |
Polycythemia vera |
|
|
MONDO:0868698 |
polymyositis |
GARD:7425 |
MONDO:equivalentTo |
Polymyositis |
|
|
MONDO:0868699 |
supravalvular aortic stenosis |
GARD:743 |
MONDO:equivalentTo |
Supravalvular aortic stenosis |
|
|
MONDO:0868700 |
porencephaly |
GARD:7430 |
MONDO:equivalentTo |
Porencephaly |
|
|
MONDO:0868701 |
porphyria cutanea tarda |
GARD:7433 |
MONDO:equivalentTo |
Porphyria cutanea tarda |
|
|
MONDO:0868702 |
posterior urethral valve |
GARD:7439 |
MONDO:equivalentTo |
Posterior urethral valve |
|
|
MONDO:0868703 |
rare precocious puberty |
GARD:7446 |
MONDO:equivalentTo |
Rare precocious puberty |
|
|
MONDO:0868704 |
primary biliary cholangitis |
GARD:7459 |
MONDO:equivalentTo |
Primary biliary cholangitis |
|
|
MONDO:0868705 |
hutchinson-gilford progeria syndrome |
GARD:7467 |
MONDO:equivalentTo |
Hutchinson-Gilford progeria syndrome |
|
|
MONDO:0868706 |
progressive multifocal leukoencephalopathy |
GARD:7468 |
MONDO:equivalentTo |
Progressive multifocal leukoencephalopathy |
|
|
MONDO:0868707 |
progressive supranuclear palsy |
GARD:7471 |
MONDO:equivalentTo |
Progressive supranuclear palsy |
|
|
MONDO:0868708 |
prolidase deficiency |
GARD:7473 |
MONDO:equivalentTo |
Prolidase deficiency |
|
|
MONDO:0868709 |
proteus syndrome |
GARD:7475 |
MONDO:equivalentTo |
Proteus syndrome |
|
|
MONDO:0868710 |
prune belly syndrome |
GARD:7479 |
MONDO:equivalentTo |
Prune belly syndrome |
|
|
MONDO:0868711 |
aphalangy-syndactyly-microcephaly syndrome |
GARD:748 |
MONDO:equivalentTo |
Aphalangy-syndactyly-microcephaly syndrome |
|
|
MONDO:0868712 |
butyrylcholinesterase deficiency |
GARD:7482 |
MONDO:equivalentTo |
Butyrylcholinesterase deficiency |
|
|
MONDO:0868713 |
pseudohypoparathyroidism type 1a |
GARD:7486 |
MONDO:equivalentTo |
Pseudohypoparathyroidism type 1A |
|
|
MONDO:0868714 |
pseudomyxoma peritonei |
GARD:7488 |
MONDO:equivalentTo |
Pseudomyxoma peritonei |
|
|
MONDO:0868715 |
autoimmune pulmonary alveolar proteinosis |
GARD:7499 |
MONDO:equivalentTo |
Autoimmune pulmonary alveolar proteinosis |
|
|
MONDO:0868716 |
pulmonary arterial hypertension |
GARD:7501 |
MONDO:equivalentTo |
Pulmonary arterial hypertension |
|
|
MONDO:0868717 |
punctate inner choroidopathy |
GARD:7503 |
MONDO:equivalentTo |
Punctate inner choroidopathy |
|
|
MONDO:0868718 |
pyoderma gangrenosum |
GARD:7510 |
MONDO:equivalentTo |
Pyoderma gangrenosum |
|
|
MONDO:0868719 |
pyruvate carboxylase deficiency |
GARD:7512 |
MONDO:equivalentTo |
Pyruvate carboxylase deficiency |
|
|
MONDO:0868720 |
pyruvate dehydrogenase deficiency |
GARD:7513 |
MONDO:equivalentTo |
Pyruvate dehydrogenase deficiency |
|
|
MONDO:0868721 |
hemolytic anemia due to red cell pyruvate kinase deficiency |
GARD:7514 |
MONDO:equivalentTo |
Hemolytic anemia due to red cell pyruvate kinase deficiency |
|
|
MONDO:0868722 |
q fever |
GARD:7515 |
MONDO:equivalentTo |
Q fever |
|
|
MONDO:0868723 |
rabies |
GARD:7516 |
MONDO:equivalentTo |
Rabies |
|
|
MONDO:0868724 |
ramon syndrome |
GARD:7523 |
MONDO:equivalentTo |
Ramon syndrome |
|
|
MONDO:0868725 |
ramsay hunt syndrome |
GARD:7525 |
MONDO:equivalentTo |
Ramsay Hunt syndrome |
|
|
MONDO:0868726 |
aplasia cutis congenita-intestinal lymphangiectasia syndrome |
GARD:753 |
MONDO:equivalentTo |
Aplasia cutis congenita-intestinal lymphangiectasia syndrome |
|
|
MONDO:0868727 |
familial renal glucosuria |
GARD:7548 |
MONDO:equivalentTo |
Familial renal glucosuria |
|
|
MONDO:0868728 |
primary renal tubular acidosis |
GARD:7552 |
MONDO:equivalentTo |
Primary renal tubular acidosis |
|
|
MONDO:0868729 |
aplasia cutis-myopia syndrome |
GARD:756 |
MONDO:equivalentTo |
Aplasia cutis-myopia syndrome |
|
|
MONDO:0868730 |
retinoblastoma |
GARD:7563 |
MONDO:equivalentTo |
Retinoblastoma |
|
|
MONDO:0868731 |
reye syndrome |
GARD:7570 |
MONDO:equivalentTo |
Reye syndrome |
|
|
MONDO:0868732 |
rhabdoid tumor |
GARD:7572 |
MONDO:equivalentTo |
Rhabdoid tumor |
|
|
MONDO:0868733 |
familial dysautonomia |
GARD:7581 |
MONDO:equivalentTo |
Familial dysautonomia |
|
|
MONDO:0868734 |
rocky mountain spotted fever |
GARD:7585 |
MONDO:equivalentTo |
Rocky Mountain spotted fever |
|
|
MONDO:0868735 |
rosaï-dorfman disease |
GARD:7588 |
MONDO:equivalentTo |
Rosaï-Dorfman disease |
|
|
MONDO:0868736 |
familial apolipoprotein c-ii deficiency |
GARD:759 |
MONDO:equivalentTo |
Familial apolipoprotein C-II deficiency |
|
|
MONDO:0868737 |
rubinstein-taybi syndrome |
GARD:7593 |
MONDO:equivalentTo |
Rubinstein-Taybi syndrome |
|
|
MONDO:0868738 |
saethre-chotzen syndrome |
GARD:7598 |
MONDO:equivalentTo |
Saethre-Chotzen syndrome |
|
|
MONDO:0868739 |
hypohidrotic ectodermal dysplasia |
GARD:76 |
MONDO:equivalentTo |
Hypohidrotic ectodermal dysplasia |
|
|
MONDO:0868740 |
sandhoff disease, infantile form |
GARD:7604 |
MONDO:equivalentTo |
Sandhoff disease, infantile form |
|
|
MONDO:0868741 |
sapho syndrome |
GARD:7606 |
MONDO:equivalentTo |
SAPHO syndrome |
|
|
MONDO:0868742 |
sarcoidosis |
GARD:7607 |
MONDO:equivalentTo |
Sarcoidosis |
|
|
MONDO:0868743 |
x-linked scapuloperoneal muscular dystrophy |
GARD:7608 |
MONDO:equivalentTo |
X-linked scapuloperoneal muscular dystrophy |
|
|
MONDO:0868744 |
familial scheuermann disease |
GARD:7610 |
MONDO:equivalentTo |
Familial Scheuermann disease |
|
|
MONDO:0868745 |
autoimmune polyendocrinopathy type 2 |
GARD:7611 |
MONDO:equivalentTo |
Autoimmune polyendocrinopathy type 2 |
|
|
MONDO:0868746 |
scleromyxedema |
GARD:7615 |
MONDO:equivalentTo |
Scleromyxedema |
|
|
MONDO:0868747 |
kuru |
GARD:7617 |
MONDO:equivalentTo |
Kuru |
|
|
MONDO:0868748 |
septo-optic dysplasia spectrum |
GARD:7627 |
MONDO:equivalentTo |
Septo-optic dysplasia spectrum |
|
|
MONDO:0868749 |
severe combined immunodeficiency |
GARD:7628 |
MONDO:equivalentTo |
Severe combined immunodeficiency |
|
|
MONDO:0868750 |
sézary syndrome |
GARD:7629 |
MONDO:equivalentTo |
Sézary syndrome |
|
|
MONDO:0868751 |
sheehan syndrome |
GARD:7630 |
MONDO:equivalentTo |
Sheehan syndrome |
|
|
MONDO:0868752 |
short syndrome |
GARD:7633 |
MONDO:equivalentTo |
SHORT syndrome |
|
|
MONDO:0868753 |
sialidosis type 1 |
GARD:7639 |
MONDO:equivalentTo |
Sialidosis type 1 |
|
|
MONDO:0868754 |
arachnodactyly-intellectual disability-dysmorphism syndrome |
GARD:764 |
MONDO:equivalentTo |
Arachnodactyly-intellectual disability-dysmorphism syndrome |
|
|
MONDO:0868755 |
simpson-golabi-behmel syndrome |
GARD:7649 |
MONDO:equivalentTo |
Simpson-Golabi-Behmel syndrome |
|
|
MONDO:0868756 |
sirenomelia |
GARD:7652 |
MONDO:equivalentTo |
Sirenomelia |
|
|
MONDO:0868757 |
sitosterolemia |
GARD:7653 |
MONDO:equivalentTo |
Sitosterolemia |
|
|
MONDO:0868758 |
sjögren-larsson syndrome |
GARD:7654 |
MONDO:equivalentTo |
Sjögren-Larsson syndrome |
|
|
MONDO:0868759 |
sneddon syndrome |
GARD:7664 |
MONDO:equivalentTo |
Sneddon syndrome |
|
|
MONDO:0868760 |
sphingolipidosis |
GARD:7672 |
MONDO:equivalentTo |
Sphingolipidosis |
|
|
MONDO:0868761 |
isolated spina bifida |
GARD:7673 |
MONDO:equivalentTo |
Isolated spina bifida |
|
|
MONDO:0868762 |
spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia |
GARD:7687 |
MONDO:equivalentTo |
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia |
|
|
MONDO:0868763 |
gerstmann-straussler-scheinker syndrome |
GARD:7690 |
MONDO:equivalentTo |
Gerstmann-Straussler-Scheinker syndrome |
|
|
MONDO:0868764 |
sporotrichosis |
GARD:7692 |
MONDO:equivalentTo |
Sporotrichosis |
|
|
MONDO:0868765 |
sprengel deformity |
GARD:7693 |
MONDO:equivalentTo |
Sprengel deformity |
|
|
MONDO:0868766 |
succinic semialdehyde dehydrogenase deficiency |
GARD:7695 |
MONDO:equivalentTo |
Succinic semialdehyde dehydrogenase deficiency |
|
|
MONDO:0868767 |
aromatic l-amino acid decarboxylase deficiency |
GARD:770 |
MONDO:equivalentTo |
Aromatic L-amino acid decarboxylase deficiency |
|
|
MONDO:0868768 |
stevens-johnson syndrome |
GARD:7700 |
MONDO:equivalentTo |
Stevens-Johnson syndrome |
|
|
MONDO:0868769 |
sturge-weber syndrome |
GARD:7706 |
MONDO:equivalentTo |
Sturge-Weber syndrome |
|
|
MONDO:0868770 |
subacute sclerosing leukoencephalitis |
GARD:7708 |
MONDO:equivalentTo |
Subacute sclerosing leukoencephalitis |
|
|
MONDO:0868771 |
congenital sucrase-isomaltase deficiency |
GARD:7710 |
MONDO:equivalentTo |
Congenital sucrase-isomaltase deficiency |
|
|
MONDO:0868772 |
superior mesenteric artery syndrome |
GARD:7712 |
MONDO:equivalentTo |
Superior mesenteric artery syndrome |
|
|
MONDO:0868773 |
susac syndrome |
GARD:7713 |
MONDO:equivalentTo |
Susac syndrome |
|
|
MONDO:0868774 |
sydenham chorea |
GARD:7716 |
MONDO:equivalentTo |
Sydenham chorea |
|
|
MONDO:0868775 |
synovial sarcoma |
GARD:7721 |
MONDO:equivalentTo |
Synovial sarcoma |
|
|
MONDO:0868776 |
syringomyelia |
GARD:7725 |
MONDO:equivalentTo |
Syringomyelia |
|
|
MONDO:0868777 |
takayasu arteritis |
GARD:7730 |
MONDO:equivalentTo |
Takayasu arteritis |
|
|
MONDO:0868778 |
tangier disease |
GARD:7731 |
MONDO:equivalentTo |
Tangier disease |
|
|
MONDO:0868779 |
tay-sachs disease |
GARD:7737 |
MONDO:equivalentTo |
Tay-Sachs disease |
|
|
MONDO:0868780 |
arterial tortuosity syndrome |
GARD:774 |
MONDO:equivalentTo |
Arterial tortuosity syndrome |
|
|
MONDO:0868781 |
stevens-johnson syndrome/toxic epidermal necrolysis spectrum |
GARD:7743 |
MONDO:equivalentTo |
Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum |
|
|
MONDO:0868782 |
hyperphenylalaninemia due to tetrahydrobiopterin deficiency |
GARD:7751 |
MONDO:equivalentTo |
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency |
|
|
MONDO:0868783 |
tetrasomy x |
GARD:7754 |
MONDO:equivalentTo |
Tetrasomy X |
|
|
MONDO:0868784 |
thoracic outlet syndrome |
GARD:7759 |
MONDO:equivalentTo |
Thoracic outlet syndrome |
|
|
MONDO:0868785 |
arthrogryposis multiplex congenita |
GARD:777 |
MONDO:equivalentTo |
Arthrogryposis multiplex congenita |
|
|
MONDO:0868786 |
tietz syndrome |
GARD:7772 |
MONDO:equivalentTo |
Tietz syndrome |
|
|
MONDO:0868787 |
tolosa-hunt syndrome |
GARD:7777 |
MONDO:equivalentTo |
Tolosa-Hunt syndrome |
|
|
MONDO:0868788 |
townes-brocks syndrome |
GARD:7784 |
MONDO:equivalentTo |
Townes-Brocks syndrome |
|
|
MONDO:0868789 |
transient erythroblastopenia of childhood |
GARD:7793 |
MONDO:equivalentTo |
Transient erythroblastopenia of childhood |
|
|
MONDO:0868790 |
transposition of the great arteries |
GARD:7795 |
MONDO:equivalentTo |
Transposition of the great arteries |
|
|
MONDO:0868791 |
tricho-dento-osseous syndrome |
GARD:7799 |
MONDO:equivalentTo |
Tricho-dento-osseous syndrome |
|
|
MONDO:0868792 |
trichorhinophalangeal syndrome type 2 |
GARD:7801 |
MONDO:equivalentTo |
Trichorhinophalangeal syndrome type 2 |
|
|
MONDO:0868793 |
trigeminal neuralgia |
GARD:7805 |
MONDO:equivalentTo |
Trigeminal neuralgia |
|
|
MONDO:0868794 |
african trypanosomiasis |
GARD:7826 |
MONDO:equivalentTo |
African trypanosomiasis |
|
|
MONDO:0868795 |
tuberculosis |
GARD:7827 |
MONDO:equivalentTo |
Tuberculosis |
|
|
MONDO:0868796 |
tuberculous meningitis |
GARD:7828 |
MONDO:equivalentTo |
Tuberculous meningitis |
|
|
MONDO:0868797 |
tuberous sclerosis complex |
GARD:7830 |
MONDO:equivalentTo |
Tuberous sclerosis complex |
|
|
MONDO:0868798 |
turner syndrome |
GARD:7831 |
MONDO:equivalentTo |
Turner syndrome |
|
|
MONDO:0868799 |
disorder of urea cycle metabolism and ammonia detoxification |
GARD:7837 |
MONDO:equivalentTo |
Disorder of urea cycle metabolism and ammonia detoxification |
|
|
MONDO:0868800 |
arthrogryposis-like hand anomaly-sensorineural deafness syndrome |
GARD:784 |
MONDO:equivalentTo |
Arthrogryposis-like hand anomaly-sensorineural deafness syndrome |
|
|
MONDO:0868801 |
cutaneous mastocytosis |
GARD:7842 |
MONDO:equivalentTo |
Cutaneous mastocytosis |
|
|
MONDO:0868802 |
usher syndrome |
GARD:7843 |
MONDO:equivalentTo |
Usher syndrome |
|
|
MONDO:0868803 |
porphyria variegata |
GARD:7848 |
MONDO:equivalentTo |
Porphyria variegata |
|
|
MONDO:0868804 |
cutaneous small vessel vasculitis |
GARD:7851 |
MONDO:equivalentTo |
Cutaneous small vessel vasculitis |
|
|
MONDO:0868805 |
vernal keratoconjunctivitis |
GARD:7854 |
MONDO:equivalentTo |
Vernal keratoconjunctivitis |
|
|
MONDO:0868806 |
von hippel-lindau disease |
GARD:7855 |
MONDO:equivalentTo |
Von Hippel-Lindau disease |
|
|
MONDO:0868807 |
hemophagocytic syndrome associated with an infection |
GARD:7857 |
MONDO:equivalentTo |
Hemophagocytic syndrome associated with an infection |
|
|
MONDO:0868808 |
distal arthrogryposis |
GARD:786 |
MONDO:equivalentTo |
Distal arthrogryposis |
|
|
MONDO:0868809 |
pseudopseudohypoparathyroidism |
GARD:7860 |
MONDO:equivalentTo |
Pseudopseudohypoparathyroidism |
|
|
MONDO:0868810 |
vogt-koyanagi-harada disease |
GARD:7862 |
MONDO:equivalentTo |
Vogt-Koyanagi-Harada disease |
|
|
MONDO:0868811 |
glycogen storage disease due to glucose-6-phosphatase deficiency type ia |
GARD:7864 |
MONDO:equivalentTo |
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia |
|
|
MONDO:0868812 |
neurofibromatosis type 1 |
GARD:7866 |
MONDO:equivalentTo |
Neurofibromatosis type 1 |
|
|
MONDO:0868813 |
von willebrand disease |
GARD:7867 |
MONDO:equivalentTo |
Von Willebrand disease |
|
|
MONDO:0868814 |
distal arthrogryposis type 1 |
GARD:787 |
MONDO:equivalentTo |
Distal arthrogryposis type 1 |
|
|
MONDO:0868815 |
wagner disease |
GARD:7871 |
MONDO:equivalentTo |
Wagner disease |
|
|
MONDO:0868816 |
waldenström macroglobulinemia |
GARD:7872 |
MONDO:equivalentTo |
Waldenström macroglobulinemia |
|
|
MONDO:0868817 |
primary intestinal lymphangiectasia |
GARD:7873 |
MONDO:equivalentTo |
Primary intestinal lymphangiectasia |
|
|
MONDO:0868818 |
autoimmune hemolytic anemia, warm type |
GARD:7876 |
MONDO:equivalentTo |
Autoimmune hemolytic anemia, warm type |
|
|
MONDO:0868819 |
weaver syndrome |
GARD:7878 |
MONDO:equivalentTo |
Weaver syndrome |
|
|
MONDO:0868820 |
nodular non-suppurative panniculitis |
GARD:7879 |
MONDO:equivalentTo |
Nodular non-suppurative panniculitis |
|
|
MONDO:0868821 |
granulomatosis with polyangiitis |
GARD:7880 |
MONDO:equivalentTo |
Granulomatosis with polyangiitis |
|
|
MONDO:0868822 |
leptospirosis |
GARD:7881 |
MONDO:equivalentTo |
Leptospirosis |
|
|
MONDO:0868823 |
proximal spinal muscular atrophy type 1 |
GARD:7883 |
MONDO:equivalentTo |
Proximal spinal muscular atrophy type 1 |
|
|
MONDO:0868824 |
werner syndrome |
GARD:7885 |
MONDO:equivalentTo |
Werner syndrome |
|
|
MONDO:0868825 |
infantile spasms syndrome |
GARD:7887 |
MONDO:equivalentTo |
Infantile spasms syndrome |
|
|
MONDO:0868826 |
western equine encephalitis |
GARD:7888 |
MONDO:equivalentTo |
Western equine encephalitis |
|
|
MONDO:0868827 |
whipple disease |
GARD:7889 |
MONDO:equivalentTo |
Whipple disease |
|
|
MONDO:0868828 |
intellectual disability-developmental delay-contractures syndrome |
GARD:7890 |
MONDO:equivalentTo |
Intellectual disability-developmental delay-contractures syndrome |
|
|
MONDO:0868829 |
williams syndrome |
GARD:7891 |
MONDO:equivalentTo |
Williams syndrome |
|
|
MONDO:0868830 |
nephroblastoma |
GARD:7892 |
MONDO:equivalentTo |
Nephroblastoma |
|
|
MONDO:0868831 |
wilson disease |
GARD:7893 |
MONDO:equivalentTo |
Wilson disease |
|
|
MONDO:0868832 |
wiskott-aldrich syndrome |
GARD:7895 |
MONDO:equivalentTo |
Wiskott-Aldrich syndrome |
|
|
MONDO:0868833 |
wolf-hirschhorn syndrome |
GARD:7896 |
MONDO:equivalentTo |
Wolf-Hirschhorn syndrome |
|
|
MONDO:0868834 |
wolfram syndrome |
GARD:7898 |
MONDO:equivalentTo |
Wolfram syndrome |
|
|
MONDO:0868835 |
wolman disease |
GARD:7899 |
MONDO:equivalentTo |
Wolman disease |
|
|
MONDO:0868836 |
metaphyseal chondrodysplasia, jansen type |
GARD:79 |
MONDO:equivalentTo |
Metaphyseal chondrodysplasia, Jansen type |
|
|
MONDO:0868837 |
neurogenic arthrogryposis multiplex congenita |
GARD:790 |
MONDO:equivalentTo |
Neurogenic arthrogryposis multiplex congenita |
|
|
MONDO:0868838 |
wyburn-mason syndrome |
GARD:7900 |
MONDO:equivalentTo |
Wyburn-Mason syndrome |
|
|
MONDO:0868839 |
recessive x-linked ichthyosis |
GARD:7904 |
MONDO:equivalentTo |
Recessive X-linked ichthyosis |
|
|
MONDO:0868840 |
x-linked lymphoproliferative disease due to sh2d1a deficiency |
GARD:7906 |
MONDO:equivalentTo |
X-linked lymphoproliferative disease due to SH2D1A deficiency |
|
|
MONDO:0868841 |
xeroderma pigmentosum |
GARD:7910 |
MONDO:equivalentTo |
Xeroderma pigmentosum |
|
|
MONDO:0868842 |
yellow fever |
GARD:7914 |
MONDO:equivalentTo |
Yellow fever |
|
|
MONDO:0868843 |
zellweger syndrome |
GARD:7917 |
MONDO:equivalentTo |
Zellweger syndrome |
|
|
MONDO:0868844 |
zollinger-ellison syndrome |
GARD:7918 |
MONDO:equivalentTo |
Zollinger-Ellison syndrome |
|
|
MONDO:0868845 |
arthrogryposis multiplex congenita-whistling face syndrome |
GARD:792 |
MONDO:equivalentTo |
Arthrogryposis multiplex congenita-whistling face syndrome |
|
|
MONDO:0868846 |
muscular dystrophy |
GARD:7922 |
MONDO:equivalentTo |
Muscular dystrophy |
|
|
MONDO:0868847 |
arthrogryposis-renal dysfunction-cholestasis syndrome |
GARD:794 |
MONDO:equivalentTo |
Arthrogryposis-renal dysfunction-cholestasis syndrome |
|
|
MONDO:0868848 |
johanson-blizzard syndrome |
GARD:80 |
MONDO:equivalentTo |
Johanson-Blizzard syndrome |
|
|
MONDO:0868849 |
atrioventricular septal defect |
GARD:802 |
MONDO:equivalentTo |
Atrioventricular septal defect |
|
|
MONDO:0868850 |
alagille syndrome |
GARD:804 |
MONDO:equivalentTo |
Alagille syndrome |
|
|
MONDO:0868851 |
spastic paraplegia-facial-cutaneous lesions syndrome |
GARD:806 |
MONDO:equivalentTo |
Spastic paraplegia-facial-cutaneous lesions syndrome |
|
|
MONDO:0868852 |
balantidiasis |
GARD:809 |
MONDO:equivalentTo |
Balantidiasis |
|
|
MONDO:0868853 |
bangstad syndrome |
GARD:812 |
MONDO:equivalentTo |
Bangstad syndrome |
|
|
MONDO:0868854 |
banki syndrome |
GARD:813 |
MONDO:equivalentTo |
Banki syndrome |
|
|
MONDO:0868855 |
orofaciodigital syndrome type 4 |
GARD:816 |
MONDO:equivalentTo |
Orofaciodigital syndrome type 4 |
|
|
MONDO:0868856 |
igg4-related mesenteritis |
GARD:8169 |
MONDO:equivalentTo |
IgG4-related mesenteritis |
|
|
MONDO:0868857 |
achondroplasia |
GARD:8173 |
MONDO:equivalentTo |
Achondroplasia |
|
|
MONDO:0868858 |
cryptomicrotia-brachydactyly-excess fingertip arch syndrome |
GARD:8174 |
MONDO:equivalentTo |
Cryptomicrotia-brachydactyly-excess fingertip arch syndrome |
|
|
MONDO:0868859 |
proximal symphalangism |
GARD:8182 |
MONDO:equivalentTo |
Proximal symphalangism |
|
|
MONDO:0868860 |
conotruncal heart malformations |
GARD:8189 |
MONDO:equivalentTo |
Conotruncal heart malformations |
|
|
MONDO:0868861 |
barber-say syndrome |
GARD:819 |
MONDO:equivalentTo |
Barber-Say syndrome |
|
|
MONDO:0868862 |
cysticercosis |
GARD:8194 |
MONDO:equivalentTo |
Cysticercosis |
|
|
MONDO:0868863 |
strongyloidiasis |
GARD:8195 |
MONDO:equivalentTo |
Strongyloidiasis |
|
|
MONDO:0868864 |
smith-magenis syndrome |
GARD:8197 |
MONDO:equivalentTo |
Smith-Magenis syndrome |
|
|
MONDO:0868865 |
omenn syndrome |
GARD:8198 |
MONDO:equivalentTo |
Omenn syndrome |
|
|
MONDO:0868866 |
kbg syndrome |
GARD:82 |
MONDO:equivalentTo |
KBG syndrome |
|
|
MONDO:0868867 |
immunoglobulin a vasculitis |
GARD:8204 |
MONDO:equivalentTo |
Immunoglobulin A vasculitis |
|
|
MONDO:0868868 |
congenital generalized hypertrichosis, ambras type |
GARD:8206 |
MONDO:equivalentTo |
Congenital generalized hypertrichosis, Ambras type |
|
|
MONDO:0868869 |
pineocytoma |
GARD:8207 |
MONDO:equivalentTo |
Pineocytoma |
|
|
MONDO:0868870 |
tropical spastic paraparesis |
GARD:8208 |
MONDO:equivalentTo |
Tropical spastic paraparesis |
|
|
MONDO:0868871 |
lafora disease |
GARD:8214 |
MONDO:equivalentTo |
Lafora disease |
|
|
MONDO:0868872 |
mansonelliasis |
GARD:8216 |
MONDO:equivalentTo |
Mansonelliasis |
|
|
MONDO:0868873 |
b-cell prolymphocytic leukemia |
GARD:8223 |
MONDO:equivalentTo |
B-cell prolymphocytic leukemia |
|
|
MONDO:0868874 |
chronic myelomonocytic leukemia |
GARD:8225 |
MONDO:equivalentTo |
Chronic myelomonocytic leukemia |
|
|
MONDO:0868875 |
non-langerhans cell histiocytosis |
GARD:8231 |
MONDO:equivalentTo |
Non-Langerhans cell histiocytosis |
|
|
MONDO:0868876 |
hemangioblastoma |
GARD:8232 |
MONDO:equivalentTo |
Hemangioblastoma |
|
|
MONDO:0868877 |
gaucher disease |
GARD:8233 |
MONDO:equivalentTo |
Gaucher disease |
|
|
MONDO:0868878 |
felty syndrome |
GARD:8234 |
MONDO:equivalentTo |
Felty syndrome |
|
|
MONDO:0868879 |
choroid plexus carcinoma |
GARD:8238 |
MONDO:equivalentTo |
Choroid plexus carcinoma |
|
|
MONDO:0868880 |
immunodeficiency by defective expression of mhc class ii |
GARD:824 |
MONDO:equivalentTo |
Immunodeficiency by defective expression of MHC class II |
|
|
MONDO:0868881 |
sea-blue histiocytosis |
GARD:8241 |
MONDO:equivalentTo |
Sea-blue histiocytosis |
|
|
MONDO:0868882 |
acquired idiopathic sideroblastic anemia |
GARD:8249 |
MONDO:equivalentTo |
Acquired idiopathic sideroblastic anemia |
|
|
MONDO:0868883 |
omsk hemorrhagic fever |
GARD:8254 |
MONDO:equivalentTo |
Omsk hemorrhagic fever |
|
|
MONDO:0868884 |
kyasanur forest disease |
GARD:8257 |
MONDO:equivalentTo |
Kyasanur forest disease |
|
|
MONDO:0868885 |
plummer-vinson syndrome |
GARD:8259 |
MONDO:equivalentTo |
Plummer-Vinson syndrome |
|
|
MONDO:0868886 |
frontometaphyseal dysplasia |
GARD:826 |
MONDO:equivalentTo |
Frontometaphyseal dysplasia |
|
|
MONDO:0868887 |
muscular pseudohypertrophy-hypothyroidism syndrome |
GARD:8270 |
MONDO:equivalentTo |
Muscular pseudohypertrophy-hypothyroidism syndrome |
|
|
MONDO:0868888 |
keratolytic winter erythema |
GARD:8275 |
MONDO:equivalentTo |
Keratolytic winter erythema |
|
|
MONDO:0868889 |
hereditary amyloidosis with primary renal involvement |
GARD:8282 |
MONDO:equivalentTo |
Hereditary amyloidosis with primary renal involvement |
|
|
MONDO:0868890 |
isolated complex iii deficiency |
GARD:8295 |
MONDO:equivalentTo |
Isolated complex III deficiency |
|
|
MONDO:0868891 |
autosomal dominant kenny-caffey syndrome |
GARD:83 |
MONDO:equivalentTo |
Autosomal dominant Kenny-Caffey syndrome |
|
|
MONDO:0868892 |
tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome |
GARD:8309 |
MONDO:equivalentTo |
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome |
|
|
MONDO:0868893 |
steinert myotonic dystrophy |
GARD:8310 |
MONDO:equivalentTo |
Steinert myotonic dystrophy |
|
|
MONDO:0868894 |
pseudo-von willebrand disease |
GARD:8312 |
MONDO:equivalentTo |
Pseudo-von Willebrand disease |
|
|
MONDO:0868895 |
dendritic cell tumor |
GARD:8317 |
MONDO:equivalentTo |
Dendritic cell tumor |
|
|
MONDO:0868896 |
atelosteogenesis type ii |
GARD:8329 |
MONDO:equivalentTo |
Atelosteogenesis type II |
|
|
MONDO:0868897 |
mohr-tranebjaerg syndrome |
GARD:8331 |
MONDO:equivalentTo |
Mohr-Tranebjaerg syndrome |
|
|
MONDO:0868898 |
athabaskan brainstem dysgenesis syndrome |
GARD:8333 |
MONDO:equivalentTo |
Athabaskan brainstem dysgenesis syndrome |
|
|
MONDO:0868899 |
amish nemaline myopathy |
GARD:8334 |
MONDO:equivalentTo |
Amish nemaline myopathy |
|
|
MONDO:0868900 |
igg4-related mediastinitis |
GARD:8337 |
MONDO:equivalentTo |
IgG4-related mediastinitis |
|
|
MONDO:0868901 |
phace syndrome |
GARD:8338 |
MONDO:equivalentTo |
PHACE syndrome |
|
|
MONDO:0868902 |
marinesco-sjögren syndrome |
GARD:8341 |
MONDO:equivalentTo |
Marinesco-Sjögren syndrome |
|
|
MONDO:0868903 |
spondylometaphyseal dysplasia, golden type |
GARD:8343 |
MONDO:equivalentTo |
Spondylometaphyseal dysplasia, Golden type |
|
|
MONDO:0868904 |
abri amyloidosis |
GARD:8344 |
MONDO:equivalentTo |
ABri amyloidosis |
|
|
MONDO:0868905 |
quebec platelet disorder |
GARD:8345 |
MONDO:equivalentTo |
Quebec platelet disorder |
|
|
MONDO:0868906 |
hypomaturation amelogenesis imperfecta |
GARD:8349 |
MONDO:equivalentTo |
Hypomaturation amelogenesis imperfecta |
|
|
MONDO:0868907 |
congenital muscular dystrophy-infantile cataract-hypogonadism syndrome |
GARD:835 |
MONDO:equivalentTo |
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome |
|
|
MONDO:0868908 |
epilepsy-microcephaly-skeletal dysplasia syndrome |
GARD:836 |
MONDO:equivalentTo |
Epilepsy-microcephaly-skeletal dysplasia syndrome |
|
|
MONDO:0868909 |
x-linked intellectual disability-retinitis pigmentosa syndrome |
GARD:8360 |
MONDO:equivalentTo |
X-linked intellectual disability-retinitis pigmentosa syndrome |
|
|
MONDO:0868910 |
autosomal recessive kenny-caffey syndrome |
GARD:8367 |
MONDO:equivalentTo |
Autosomal recessive Kenny-Caffey syndrome |
|
|
MONDO:0868911 |
congenital lactic acidosis, saguenay-lac-saint-jean type |
GARD:8370 |
MONDO:equivalentTo |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type |
|
|
MONDO:0868912 |
autosomal recessive polycystic kidney disease |
GARD:8378 |
MONDO:equivalentTo |
Autosomal recessive polycystic kidney disease |
|
|
MONDO:0868913 |
bazex-dupré-christol syndrome |
GARD:838 |
MONDO:equivalentTo |
Bazex-Dupré-Christol syndrome |
|
|
MONDO:0868914 |
generalized arterial calcification of infancy |
GARD:8380 |
MONDO:equivalentTo |
Generalized arterial calcification of infancy |
|
|
MONDO:0868915 |
3-hydroxy-3-methylglutaric aciduria |
GARD:8387 |
MONDO:equivalentTo |
3-hydroxy-3-methylglutaric aciduria |
|
|
MONDO:0868916 |
ornithine transcarbamylase deficiency |
GARD:8391 |
MONDO:equivalentTo |
Ornithine transcarbamylase deficiency |
|
|
MONDO:0868917 |
brain demyelination due to methionine adenosyltransferase deficiency |
GARD:8397 |
MONDO:equivalentTo |
Brain demyelination due to methionine adenosyltransferase deficiency |
|
|
MONDO:0868918 |
feingold syndrome |
GARD:8407 |
MONDO:equivalentTo |
Feingold syndrome |
|
|
MONDO:0868919 |
postaxial acrofacial dysostosis |
GARD:8410 |
MONDO:equivalentTo |
Postaxial acrofacial dysostosis |
|
|
MONDO:0868920 |
van der woude syndrome |
GARD:8414 |
MONDO:equivalentTo |
Van der Woude syndrome |
|
|
MONDO:0868921 |
focal facial dermal dysplasia |
GARD:8416 |
MONDO:equivalentTo |
Focal facial dermal dysplasia |
|
|
MONDO:0868922 |
isolated optic nerve hypoplasia/aplasia |
GARD:8419 |
MONDO:equivalentTo |
Isolated optic nerve hypoplasia/aplasia |
|
|
MONDO:0868923 |
ankylosing vertebral hyperostosis with tylosis |
GARD:842 |
MONDO:equivalentTo |
Ankylosing vertebral hyperostosis with tylosis |
|
|
MONDO:0868924 |
tetrasomy 12p |
GARD:8421 |
MONDO:equivalentTo |
Tetrasomy 12p |
|
|
MONDO:0868925 |
peters plus syndrome |
GARD:8422 |
MONDO:equivalentTo |
Peters plus syndrome |
|
|
MONDO:0868926 |
richards-rundle syndrome |
GARD:8423 |
MONDO:equivalentTo |
Richards-Rundle syndrome |
|
|
MONDO:0868927 |
iminoglycinuria |
GARD:8424 |
MONDO:equivalentTo |
Iminoglycinuria |
|
|
MONDO:0868928 |
thyroid hypoplasia |
GARD:8426 |
MONDO:equivalentTo |
Thyroid hypoplasia |
|
|
MONDO:0868929 |
immunodeficiency by defective expression of mhc class i |
GARD:8427 |
MONDO:equivalentTo |
Immunodeficiency by defective expression of MHC class I |
|
|
MONDO:0868930 |
crane-heise syndrome |
GARD:8428 |
MONDO:equivalentTo |
Crane-Heise syndrome |
|
|
MONDO:0868931 |
native american myopathy |
GARD:8432 |
MONDO:equivalentTo |
Native American myopathy |
|
|
MONDO:0868932 |
king-denborough syndrome |
GARD:8433 |
MONDO:equivalentTo |
King-Denborough syndrome |
|
|
MONDO:0868933 |
persistent müllerian duct syndrome |
GARD:8435 |
MONDO:equivalentTo |
Persistent Müllerian duct syndrome |
|
|
MONDO:0868934 |
frontotemporal dementia |
GARD:8436 |
MONDO:equivalentTo |
Frontotemporal dementia |
|
|
MONDO:0868935 |
isolated anterior cervical hypertrichosis |
GARD:8438 |
MONDO:equivalentTo |
Isolated anterior cervical hypertrichosis |
|
|
MONDO:0868936 |
keutel syndrome |
GARD:8449 |
MONDO:equivalentTo |
Keutel syndrome |
|
|
MONDO:0868937 |
tumor necrosis factor receptor 1 associated periodic syndrome |
GARD:8457 |
MONDO:equivalentTo |
Tumor necrosis factor receptor 1 associated periodic syndrome |
|
|
MONDO:0868938 |
beemer-ertbruggen syndrome |
GARD:846 |
MONDO:equivalentTo |
Beemer-Ertbruggen syndrome |
|
|
MONDO:0868939 |
autoimmune polyendocrinopathy type 1 |
GARD:8466 |
MONDO:equivalentTo |
Autoimmune polyendocrinopathy type 1 |
|
|
MONDO:0868940 |
melanoma and neural system tumor syndrome |
GARD:8468 |
MONDO:equivalentTo |
Melanoma and neural system tumor syndrome |
|
|
MONDO:0868941 |
x-linked recessive ocular albinism |
GARD:8471 |
MONDO:equivalentTo |
X-linked recessive ocular albinism |
|
|
MONDO:0868942 |
muckle-wells syndrome |
GARD:8472 |
MONDO:equivalentTo |
Muckle-Wells syndrome |
|
|
MONDO:0868943 |
leber plus disease |
GARD:8476 |
MONDO:equivalentTo |
Leber plus disease |
|
|
MONDO:0868944 |
familial multiple discoid fibromas |
GARD:8479 |
MONDO:equivalentTo |
Familial multiple discoid fibromas |
|
|
MONDO:0868945 |
behçet disease |
GARD:848 |
MONDO:equivalentTo |
Behçet disease |
|
|
MONDO:0868946 |
autosomal recessive cutis laxa type 1 |
GARD:8480 |
MONDO:equivalentTo |
Autosomal recessive cutis laxa type 1 |
|
|
MONDO:0868947 |
acropectoral syndrome |
GARD:8485 |
MONDO:equivalentTo |
Acropectoral syndrome |
|
|
MONDO:0868948 |
musculocontractural ehlers-danlos syndrome |
GARD:8486 |
MONDO:equivalentTo |
Musculocontractural Ehlers-Danlos syndrome |
|
|
MONDO:0868949 |
infantile digital fibromatosis |
GARD:8487 |
MONDO:equivalentTo |
Infantile digital fibromatosis |
|
|
MONDO:0868950 |
familial papillary or follicular thyroid carcinoma |
GARD:8488 |
MONDO:equivalentTo |
Familial papillary or follicular thyroid carcinoma |
|
|
MONDO:0868951 |
african iron overload |
GARD:8495 |
MONDO:equivalentTo |
African iron overload |
|
|
MONDO:0868952 |
thanatophoric dysplasia |
GARD:85 |
MONDO:equivalentTo |
Thanatophoric dysplasia |
|
|
MONDO:0868953 |
white sponge nevus |
GARD:8501 |
MONDO:equivalentTo |
White sponge nevus |
|
|
MONDO:0868954 |
x-linked ehlers-danlos syndrome |
GARD:8505 |
MONDO:equivalentTo |
X-linked Ehlers-Danlos syndrome |
|
|
MONDO:0868955 |
classical-like ehlers-danlos syndrome type 1 |
GARD:8507 |
MONDO:equivalentTo |
Classical-like Ehlers-Danlos syndrome type 1 |
|
|
MONDO:0868956 |
aredyld syndrome |
GARD:8509 |
MONDO:equivalentTo |
AREDYLD syndrome |
|
|
MONDO:0868957 |
huriez syndrome |
GARD:8517 |
MONDO:equivalentTo |
Huriez syndrome |
|
|
MONDO:0868958 |
x-linked intellectual disability-dandy-walker malformation-basal ganglia disease-seizures syndrome |
GARD:8520 |
MONDO:equivalentTo |
X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome |
|
|
MONDO:0868959 |
infantile-onset x-linked spinal muscular atrophy |
GARD:8521 |
MONDO:equivalentTo |
Infantile-onset X-linked spinal muscular atrophy |
|
|
MONDO:0868960 |
diffuse panbronchiolitis |
GARD:8526 |
MONDO:equivalentTo |
Diffuse panbronchiolitis |
|
|
MONDO:0868961 |
hellp syndrome |
GARD:8528 |
MONDO:equivalentTo |
HELLP syndrome |
|
|
MONDO:0868962 |
macrodactyly of fingers |
GARD:8529 |
MONDO:equivalentTo |
Macrodactyly of fingers |
|
|
MONDO:0868963 |
cloverleaf skull-asphyxiating thoracic dysplasia syndrome |
GARD:853 |
MONDO:equivalentTo |
Cloverleaf skull-asphyxiating thoracic dysplasia syndrome |
|
|
MONDO:0868964 |
male infertility with azoospermia or oligozoospermia due to single gene mutation |
GARD:8530 |
MONDO:equivalentTo |
Male infertility with azoospermia or oligozoospermia due to single gene mutation |
|
|
MONDO:0868965 |
attenuated familial adenomatous polyposis |
GARD:8532 |
MONDO:equivalentTo |
Attenuated familial adenomatous polyposis |
|
|
MONDO:0868966 |
hereditary nonpolyposis colon cancer |
GARD:8533 |
MONDO:equivalentTo |
Hereditary nonpolyposis colon cancer |
|
|
MONDO:0868967 |
congenital central hypoventilation syndrome |
GARD:8535 |
MONDO:equivalentTo |
Congenital central hypoventilation syndrome |
|
|
MONDO:0868968 |
46,xy disorder of sex development |
GARD:8538 |
MONDO:equivalentTo |
46,XY disorder of sex development |
|
|
MONDO:0868969 |
urocanic aciduria |
GARD:8539 |
MONDO:equivalentTo |
Urocanic aciduria |
|
|
MONDO:0868970 |
primary progressive aphasia |
GARD:8541 |
MONDO:equivalentTo |
Primary progressive aphasia |
|
|
MONDO:0868971 |
chondrodysplasia punctata |
GARD:8542 |
MONDO:equivalentTo |
Chondrodysplasia punctata |
|
|
MONDO:0868972 |
gitelman syndrome |
GARD:8547 |
MONDO:equivalentTo |
Gitelman syndrome |
|
|
MONDO:0868973 |
charcot-marie-tooth disease type 2b1 |
GARD:8548 |
MONDO:equivalentTo |
Charcot-Marie-Tooth disease type 2B1 |
|
|
MONDO:0868974 |
moebius syndrome |
GARD:8549 |
MONDO:equivalentTo |
Moebius syndrome |
|
|
MONDO:0868975 |
dermatopathia pigmentosa reticularis |
GARD:8550 |
MONDO:equivalentTo |
Dermatopathia pigmentosa reticularis |
|
|
MONDO:0868976 |
infantile convulsions and choreoathetosis |
GARD:8553 |
MONDO:equivalentTo |
Infantile convulsions and choreoathetosis |
|
|
MONDO:0868977 |
dense deposit disease |
GARD:8555 |
MONDO:equivalentTo |
Dense deposit disease |
|
|
MONDO:0868978 |
seckel syndrome |
GARD:8562 |
MONDO:equivalentTo |
Seckel syndrome |
|
|
MONDO:0868979 |
primary orthostatic tremor |
GARD:8563 |
MONDO:equivalentTo |
Primary orthostatic tremor |
|
|
MONDO:0868980 |
benign familial infantile epilepsy |
GARD:857 |
MONDO:equivalentTo |
Benign familial infantile epilepsy |
|
|
MONDO:0868981 |
steroid-responsive encephalopathy associated with autoimmune thyroiditis |
GARD:8570 |
MONDO:equivalentTo |
Steroid-responsive encephalopathy associated with autoimmune thyroiditis |
|
|
MONDO:0868982 |
delta-sarcoglycan-related limb-girdle muscular dystrophy r6 |
GARD:8573 |
MONDO:equivalentTo |
Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 |
|
|
MONDO:0868983 |
dysferlin-related limb-girdle muscular dystrophy r2 |
GARD:8574 |
MONDO:equivalentTo |
Dysferlin-related limb-girdle muscular dystrophy R2 |
|
|
MONDO:0868984 |
panuveitis |
GARD:8577 |
MONDO:equivalentTo |
Panuveitis |
|
|
MONDO:0868985 |
vitamin k antagonist embryofetopathy |
GARD:8580 |
MONDO:equivalentTo |
Vitamin K antagonist embryofetopathy |
|
|
MONDO:0868986 |
isolated hereditary congenital facial paralysis |
GARD:8583 |
MONDO:equivalentTo |
Isolated hereditary congenital facial paralysis |
|
|
MONDO:0868987 |
cantú syndrome |
GARD:8585 |
MONDO:equivalentTo |
Cantú syndrome |
|
|
MONDO:0868988 |
cardiocranial syndrome, pfeiffer type |
GARD:8586 |
MONDO:equivalentTo |
Cardiocranial syndrome, Pfeiffer type |
|
|
MONDO:0868989 |
spinal muscular atrophy with respiratory distress type 1 |
GARD:8592 |
MONDO:equivalentTo |
Spinal muscular atrophy with respiratory distress type 1 |
|
|
MONDO:0868990 |
morgagni-stewart-morel syndrome |
GARD:8593 |
MONDO:equivalentTo |
Morgagni-Stewart-Morel syndrome |
|
|
MONDO:0868991 |
ataxia with vitamin e deficiency |
GARD:8595 |
MONDO:equivalentTo |
Ataxia with vitamin E deficiency |
|
|
MONDO:0868992 |
gastrointestinal stromal tumor |
GARD:8598 |
MONDO:equivalentTo |
Gastrointestinal stromal tumor |
|
|
MONDO:0868993 |
chudley-mccullough syndrome |
GARD:86 |
MONDO:equivalentTo |
Chudley-McCullough syndrome |
|
|
MONDO:0868994 |
cryptorchidism-arachnodactyly-intellectual disability syndrome |
GARD:860 |
MONDO:equivalentTo |
Cryptorchidism-arachnodactyly-intellectual disability syndrome |
|
|
MONDO:0868995 |
saldino-mainzer syndrome |
GARD:8600 |
MONDO:equivalentTo |
Saldino-Mainzer syndrome |
|
|
MONDO:0868996 |
acquired angioedema |
GARD:8605 |
MONDO:equivalentTo |
Acquired angioedema |
|
|
MONDO:0868997 |
amish lethal microcephaly |
GARD:8606 |
MONDO:equivalentTo |
Amish lethal microcephaly |
|
|
MONDO:0868998 |
idiopathic pulmonary fibrosis |
GARD:8609 |
MONDO:equivalentTo |
Idiopathic pulmonary fibrosis |
|
|
MONDO:0868999 |
harlequin syndrome |
GARD:8610 |
MONDO:equivalentTo |
Harlequin syndrome |
|
|
MONDO:0869000 |
sickle cell anemia |
GARD:8614 |
MONDO:equivalentTo |
Sickle cell anemia |
|
|
MONDO:0869001 |
systemic mastocytosis |
GARD:8616 |
MONDO:equivalentTo |
Systemic mastocytosis |
|
|
MONDO:0869002 |
primary myelofibrosis |
GARD:8618 |
MONDO:equivalentTo |
Primary myelofibrosis |
|
|
MONDO:0869003 |
uveal melanoma |
GARD:8621 |
MONDO:equivalentTo |
Uveal melanoma |
|
|
MONDO:0869004 |
good syndrome |
GARD:8622 |
MONDO:equivalentTo |
Good syndrome |
|
|
MONDO:0869005 |
microcephaly-cleft palate-abnormal retinal pigmentation syndrome |
GARD:8623 |
MONDO:equivalentTo |
Microcephaly-cleft palate-abnormal retinal pigmentation syndrome |
|
|
MONDO:0869006 |
reticular dysgenesis |
GARD:8625 |
MONDO:equivalentTo |
Reticular dysgenesis |
|
|
MONDO:0869007 |
monosomy 18p |
GARD:8631 |
MONDO:equivalentTo |
Monosomy 18p |
|
|
MONDO:0869008 |
acute leukemia of ambiguous lineage |
GARD:8638 |
MONDO:equivalentTo |
Acute leukemia of ambiguous lineage |
|
|
MONDO:0869009 |
acute disseminated encephalomyelitis |
GARD:8639 |
MONDO:equivalentTo |
Acute disseminated encephalomyelitis |
|
|
MONDO:0869010 |
acute zonal occult outer retinopathy |
GARD:8640 |
MONDO:equivalentTo |
Acute zonal occult outer retinopathy |
|
|
MONDO:0869011 |
congenital alveolar capillary dysplasia |
GARD:8644 |
MONDO:equivalentTo |
Congenital alveolar capillary dysplasia |
|
|
MONDO:0869012 |
erythema elevatum diutinum |
GARD:8653 |
MONDO:equivalentTo |
Erythema elevatum diutinum |
|
|
MONDO:0869013 |
fibular hemimelia |
GARD:8659 |
MONDO:equivalentTo |
Fibular hemimelia |
|
|
MONDO:0869014 |
gerstmann syndrome |
GARD:8660 |
MONDO:equivalentTo |
Gerstmann syndrome |
|
|
MONDO:0869015 |
gastroschisis |
GARD:8661 |
MONDO:equivalentTo |
Gastroschisis |
|
|
MONDO:0869016 |
auriculoosteodysplasia |
GARD:8663 |
MONDO:equivalentTo |
Auriculoosteodysplasia |
|
|
MONDO:0869017 |
chronic beryllium disease |
GARD:867 |
MONDO:equivalentTo |
Chronic beryllium disease |
|
|
MONDO:0869018 |
kleefstra syndrome |
GARD:8672 |
MONDO:equivalentTo |
Kleefstra syndrome |
|
|
MONDO:0869019 |
crigler-najjar syndrome type 2 |
GARD:8683 |
MONDO:equivalentTo |
Crigler-Najjar syndrome type 2 |
|
|
MONDO:0869020 |
autoimmune lymphoproliferative syndrome |
GARD:8686 |
MONDO:equivalentTo |
Autoimmune lymphoproliferative syndrome |
|
|
MONDO:0869021 |
severe immune-mediated enteropathy |
GARD:8689 |
MONDO:equivalentTo |
Severe immune-mediated enteropathy |
|
|
MONDO:0869022 |
beta-mannosidosis |
GARD:869 |
MONDO:equivalentTo |
Beta-mannosidosis |
|
|
MONDO:0869023 |
whooping cough |
GARD:8692 |
MONDO:equivalentTo |
Whooping cough |
|
|
MONDO:0869024 |
osteogenesis imperfecta type 1 |
GARD:8694 |
MONDO:equivalentTo |
Osteogenesis imperfecta type 1 |
|
|
MONDO:0869025 |
osteogenesis imperfecta type 3 |
GARD:8695 |
MONDO:equivalentTo |
Osteogenesis imperfecta type 3 |
|
|
MONDO:0869026 |
osteogenesis imperfecta type 4 |
GARD:8696 |
MONDO:equivalentTo |
Osteogenesis imperfecta type 4 |
|
|
MONDO:0869027 |
gnathodiaphyseal dysplasia |
GARD:8698 |
MONDO:equivalentTo |
Gnathodiaphyseal dysplasia |
|
|
MONDO:0869028 |
osteogenesis imperfecta type 5 |
GARD:8699 |
MONDO:equivalentTo |
Osteogenesis imperfecta type 5 |
|
|
MONDO:0869029 |
microphthalmia, lenz type |
GARD:87 |
MONDO:equivalentTo |
Microphthalmia, Lenz type |
|
|
MONDO:0869030 |
atypical hemolytic uremic syndrome |
GARD:8702 |
MONDO:equivalentTo |
Atypical hemolytic uremic syndrome |
|
|
MONDO:0869031 |
primary angiitis of the central nervous system |
GARD:8703 |
MONDO:equivalentTo |
Primary angiitis of the central nervous system |
|
|
MONDO:0869032 |
tibial hemimelia |
GARD:8707 |
MONDO:equivalentTo |
Tibial hemimelia |
|
|
MONDO:0869033 |
patella aplasia/hypoplasia |
GARD:8709 |
MONDO:equivalentTo |
Patella aplasia/hypoplasia |
|
|
MONDO:0869034 |
beta-thalassemia |
GARD:871 |
MONDO:equivalentTo |
Beta-thalassemia |
|
|
MONDO:0869035 |
spheroid body myopathy |
GARD:8711 |
MONDO:equivalentTo |
Spheroid body myopathy |
|
|
MONDO:0869036 |
achondrogenesis type 2 |
GARD:8713 |
MONDO:equivalentTo |
Achondrogenesis type 2 |
|
|
MONDO:0869037 |
odontochondrodysplasia |
GARD:8717 |
MONDO:equivalentTo |
Odontochondrodysplasia |
|
|
MONDO:0869038 |
spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome |
GARD:8719 |
MONDO:equivalentTo |
Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome |
|
|
MONDO:0869039 |
beta-ketothiolase deficiency |
GARD:872 |
MONDO:equivalentTo |
Beta-ketothiolase deficiency |
|
|
MONDO:0869040 |
axial spondylometaphyseal dysplasia |
GARD:8720 |
MONDO:equivalentTo |
Axial spondylometaphyseal dysplasia |
|
|
MONDO:0869041 |
paroxysmal kinesigenic dyskinesia |
GARD:8721 |
MONDO:equivalentTo |
Paroxysmal kinesigenic dyskinesia |
|
|
MONDO:0869042 |
paroxysmal non-kinesigenic dyskinesia |
GARD:8722 |
MONDO:equivalentTo |
Paroxysmal non-kinesigenic dyskinesia |
|
|
MONDO:0869043 |
myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality |
GARD:8723 |
MONDO:equivalentTo |
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality |
|
|
MONDO:0869044 |
bethlem myopathy |
GARD:873 |
MONDO:equivalentTo |
Bethlem myopathy |
|
|
MONDO:0869045 |
hemophilia b |
GARD:8732 |
MONDO:equivalentTo |
Hemophilia B |
|
|
MONDO:0869046 |
childhood-onset hypophosphatasia |
GARD:8735 |
MONDO:equivalentTo |
Childhood-onset hypophosphatasia |
|
|
MONDO:0869047 |
idiopathic hypersomnia |
GARD:8737 |
MONDO:equivalentTo |
Idiopathic hypersomnia |
|
|
MONDO:0869048 |
greenberg dysplasia |
GARD:8754 |
MONDO:equivalentTo |
Greenberg dysplasia |
|
|
MONDO:0869049 |
arrhinia-choanal atresia-microphthalmia syndrome |
GARD:8755 |
MONDO:equivalentTo |
Arrhinia-choanal atresia-microphthalmia syndrome |
|
|
MONDO:0869050 |
lethal ataxia with deafness and optic atrophy |
GARD:8756 |
MONDO:equivalentTo |
Lethal ataxia with deafness and optic atrophy |
|
|
MONDO:0869051 |
pleuropulmonary blastoma |
GARD:8757 |
MONDO:equivalentTo |
Pleuropulmonary blastoma |
|
|
MONDO:0869052 |
ocular cicatricial pemphigoid |
GARD:8759 |
MONDO:equivalentTo |
Ocular cicatricial pemphigoid |
|
|
MONDO:0869053 |
leri pleonosteosis |
GARD:88 |
MONDO:equivalentTo |
Leri pleonosteosis |
|
|
MONDO:0869054 |
biemond syndrome type 2 |
GARD:882 |
MONDO:equivalentTo |
Biemond syndrome type 2 |
|
|
MONDO:0869055 |
bifid nose |
GARD:884 |
MONDO:equivalentTo |
Bifid nose |
|
|
MONDO:0869056 |
fallot complex-intellectual disability-growth delay syndrome |
GARD:893 |
MONDO:equivalentTo |
Fallot complex-intellectual disability-growth delay syndrome |
|
|
MONDO:0869057 |
biotinidase deficiency |
GARD:894 |
MONDO:equivalentTo |
Biotinidase deficiency |
|
|
MONDO:0869058 |
microcephalic primordial dwarfism, montreal type |
GARD:895 |
MONDO:equivalentTo |
Microcephalic primordial dwarfism, Montreal type |
|
|
MONDO:0869059 |
hypertelorism-microtia-facial clefting syndrome |
GARD:897 |
MONDO:equivalentTo |
Hypertelorism-microtia-facial clefting syndrome |
|
|
MONDO:0869060 |
blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome |
GARD:905 |
MONDO:equivalentTo |
Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome |
|
|
MONDO:0869061 |
primary fanconi renotubular syndrome |
GARD:9118 |
MONDO:equivalentTo |
Primary Fanconi renotubular syndrome |
|
|
MONDO:0869062 |
pulmonary agenesis |
GARD:9119 |
MONDO:equivalentTo |
Pulmonary agenesis |
|
|
MONDO:0869063 |
blepharoptosis-myopia-ectopia lentis syndrome |
GARD:912 |
MONDO:equivalentTo |
Blepharoptosis-myopia-ectopia lentis syndrome |
|
|
MONDO:0869064 |
treacher-collins syndrome |
GARD:9124 |
MONDO:equivalentTo |
Treacher-Collins syndrome |
|
|
MONDO:0869065 |
agnathia-holoprosencephaly-situs inversus syndrome |
GARD:9126 |
MONDO:equivalentTo |
Agnathia-holoprosencephaly-situs inversus syndrome |
|
|
MONDO:0869066 |
idiopathic inflammatory myopathy |
GARD:9128 |
MONDO:equivalentTo |
Idiopathic inflammatory myopathy |
|
|
MONDO:0869067 |
congenital muscular dystrophy |
GARD:9138 |
MONDO:equivalentTo |
Congenital muscular dystrophy |
|
|
MONDO:0869068 |
blomstrand lethal chondrodysplasia |
GARD:914 |
MONDO:equivalentTo |
Blomstrand lethal chondrodysplasia |
|
|
MONDO:0869069 |
eosinophilic gastroenteritis |
GARD:9142 |
MONDO:equivalentTo |
Eosinophilic gastroenteritis |
|
|
MONDO:0869070 |
renal pseudohypoaldosteronism type 1 |
GARD:9145 |
MONDO:equivalentTo |
Renal pseudohypoaldosteronism type 1 |
|
|
MONDO:0869071 |
cardiofaciocutaneous syndrome |
GARD:9146 |
MONDO:equivalentTo |
Cardiofaciocutaneous syndrome |
|
|
MONDO:0869072 |
bloom syndrome |
GARD:915 |
MONDO:equivalentTo |
Bloom syndrome |
|
|
MONDO:0869073 |
congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency |
GARD:9152 |
MONDO:equivalentTo |
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency |
|
|
MONDO:0869074 |
syndromic x-linked intellectual disability 7 |
GARD:9156 |
MONDO:equivalentTo |
Syndromic X-linked intellectual disability 7 |
|
|
MONDO:0869075 |
x-linked intellectual disability, abidi type |
GARD:9157 |
MONDO:equivalentTo |
X-linked intellectual disability, Abidi type |
|
|
MONDO:0869076 |
brody myopathy |
GARD:9158 |
MONDO:equivalentTo |
Brody myopathy |
|
|
MONDO:0869077 |
blount disease |
GARD:916 |
MONDO:equivalentTo |
Blount disease |
|
|
MONDO:0869078 |
alpha-n-acetylgalactosaminidase deficiency type 2 |
GARD:9161 |
MONDO:equivalentTo |
Alpha-N-acetylgalactosaminidase deficiency type 2 |
|
|
MONDO:0869079 |
roifman syndrome |
GARD:9163 |
MONDO:equivalentTo |
Roifman syndrome |
|
|
MONDO:0869080 |
rippling muscle disease |
GARD:9164 |
MONDO:equivalentTo |
Rippling muscle disease |
|
|
MONDO:0869081 |
familial expansile osteolysis |
GARD:9168 |
MONDO:equivalentTo |
Familial expansile osteolysis |
|
|
MONDO:0869082 |
adan amyloidosis |
GARD:9169 |
MONDO:equivalentTo |
ADan amyloidosis |
|
|
MONDO:0869083 |
blue cone monochromatism |
GARD:917 |
MONDO:equivalentTo |
Blue cone monochromatism |
|
|
MONDO:0869084 |
hypotrichosis simplex |
GARD:9170 |
MONDO:equivalentTo |
Hypotrichosis simplex |
|
|
MONDO:0869085 |
kufor-rakeb syndrome |
GARD:9174 |
MONDO:equivalentTo |
Kufor-Rakeb syndrome |
|
|
MONDO:0869086 |
parkinsonian-pyramidal syndrome |
GARD:9175 |
MONDO:equivalentTo |
Parkinsonian-pyramidal syndrome |
|
|
MONDO:0869087 |
pyogenic arthritis-pyoderma gangrenosum-acne syndrome |
GARD:9176 |
MONDO:equivalentTo |
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome |
|
|
MONDO:0869088 |
lethal congenital contracture syndrome type 2 |
GARD:9177 |
MONDO:equivalentTo |
Lethal congenital contracture syndrome type 2 |
|
|
MONDO:0869089 |
mehmo syndrome |
GARD:9178 |
MONDO:equivalentTo |
MEHMO syndrome |
|
|
MONDO:0869090 |
north carolina macular dystrophy |
GARD:9179 |
MONDO:equivalentTo |
North Carolina macular dystrophy |
|
|
MONDO:0869091 |
brachymorphism-onychodysplasia-dysphalangism syndrome |
GARD:918 |
MONDO:equivalentTo |
Brachymorphism-onychodysplasia-dysphalangism syndrome |
|
|
MONDO:0869092 |
primary membranous glomerulonephritis |
GARD:9180 |
MONDO:equivalentTo |
Primary membranous glomerulonephritis |
|
|
MONDO:0869093 |
familial abdominal aortic aneurysm |
GARD:9181 |
MONDO:equivalentTo |
Familial abdominal aortic aneurysm |
|
|
MONDO:0869094 |
okihiro syndrome |
GARD:9182 |
MONDO:equivalentTo |
Okihiro syndrome |
|
|
MONDO:0869095 |
progressive pseudorheumatoid arthropathy of childhood |
GARD:9184 |
MONDO:equivalentTo |
Progressive pseudorheumatoid arthropathy of childhood |
|
|
MONDO:0869096 |
mendelian susceptibility to mycobacterial diseases due to complete ifngammar1 deficiency |
GARD:9185 |
MONDO:equivalentTo |
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency |
|
|
MONDO:0869097 |
charcot-marie-tooth disease type 1d |
GARD:9189 |
MONDO:equivalentTo |
Charcot-Marie-Tooth disease type 1D |
|
|
MONDO:0869098 |
charcot-marie-tooth disease type 1e |
GARD:9190 |
MONDO:equivalentTo |
Charcot-Marie-Tooth disease type 1E |
|
|
MONDO:0869099 |
charcot-marie-tooth disease type 1f |
GARD:9191 |
MONDO:equivalentTo |
Charcot-Marie-Tooth disease type 1F |
|
|
MONDO:0869100 |
autosomal dominant charcot-marie-tooth disease type 2b |
GARD:9192 |
MONDO:equivalentTo |
Autosomal dominant Charcot-Marie-Tooth disease type 2B |
|
|
MONDO:0869101 |
autosomal dominant charcot-marie-tooth disease type 2e |
GARD:9193 |
MONDO:equivalentTo |
Autosomal dominant Charcot-Marie-Tooth disease type 2E |
|
|
MONDO:0869102 |
autosomal dominant charcot-marie-tooth disease type 2f |
GARD:9194 |
MONDO:equivalentTo |
Autosomal dominant Charcot-Marie-Tooth disease type 2F |
|
|
MONDO:0869103 |
autosomal dominant charcot-marie-tooth disease type 2g |
GARD:9195 |
MONDO:equivalentTo |
Autosomal dominant Charcot-Marie-Tooth disease type 2G |
|
|
MONDO:0869104 |
charcot-marie-tooth disease type 2h |
GARD:9196 |
MONDO:equivalentTo |
Charcot-Marie-Tooth disease type 2H |
|
|
MONDO:0869105 |
autosomal dominant charcot-marie-tooth disease type 2i |
GARD:9197 |
MONDO:equivalentTo |
Autosomal dominant Charcot-Marie-Tooth disease type 2I |
|
|
MONDO:0869106 |
autosomal dominant charcot-marie-tooth disease type 2j |
GARD:9198 |
MONDO:equivalentTo |
Autosomal dominant Charcot-Marie-Tooth disease type 2J |
|
|
MONDO:0869107 |
autosomal dominant charcot-marie-tooth disease type 2k |
GARD:9199 |
MONDO:equivalentTo |
Autosomal dominant Charcot-Marie-Tooth disease type 2K |
|
|
MONDO:0869108 |
mal de meleda |
GARD:92 |
MONDO:equivalentTo |
Mal de Meleda |
|
|
MONDO:0869109 |
charcot-marie-tooth disease type 4b2 |
GARD:9200 |
MONDO:equivalentTo |
Charcot-Marie-Tooth disease type 4B2 |
|
|
MONDO:0869110 |
charcot-marie-tooth disease type 4c |
GARD:9201 |
MONDO:equivalentTo |
Charcot-Marie-Tooth disease type 4C |
|
|
MONDO:0869111 |
charcot-marie-tooth disease type 4e |
GARD:9203 |
MONDO:equivalentTo |
Charcot-Marie-Tooth disease type 4E |
|
|
MONDO:0869112 |
dejerine-sottas syndrome |
GARD:9204 |
MONDO:equivalentTo |
Dejerine-Sottas syndrome |
|
|
MONDO:0869113 |
autosomal dominant intermediate charcot-marie-tooth disease type f |
GARD:9206 |
MONDO:equivalentTo |
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F |
|
|
MONDO:0869114 |
autosomal dominant intermediate charcot-marie-tooth disease type d |
GARD:9207 |
MONDO:equivalentTo |
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D |
|
|
MONDO:0869115 |
hereditary motor and sensory neuropathy type 5 |
GARD:9208 |
MONDO:equivalentTo |
Hereditary motor and sensory neuropathy type 5 |
|
|
MONDO:0869116 |
thiamine-responsive megaloblastic anemia syndrome |
GARD:9210 |
MONDO:equivalentTo |
Thiamine-responsive megaloblastic anemia syndrome |
|
|
MONDO:0869117 |
phocomelia, schinzel type |
GARD:9212 |
MONDO:equivalentTo |
Phocomelia, Schinzel type |
|
|
MONDO:0869118 |
lymphedema-cerebral arteriovenous anomaly syndrome |
GARD:9217 |
MONDO:equivalentTo |
Lymphedema-cerebral arteriovenous anomaly syndrome |
|
|
MONDO:0869119 |
bone dysplasia, lethal holmgren type |
GARD:922 |
MONDO:equivalentTo |
Bone dysplasia, lethal Holmgren type |
|
|
MONDO:0869120 |
tarsal-carpal coalition syndrome |
GARD:9225 |
MONDO:equivalentTo |
Tarsal-carpal coalition syndrome |
|
|
MONDO:0869121 |
renal agenesis |
GARD:9228 |
MONDO:equivalentTo |
Renal agenesis |
|
|
MONDO:0869122 |
arnold-chiari malformation type ii |
GARD:9232 |
MONDO:equivalentTo |
Arnold-Chiari malformation type II |
|
|
MONDO:0869123 |
arnold-chiari malformation type i |
GARD:9233 |
MONDO:equivalentTo |
Arnold-Chiari malformation type I |
|
|
MONDO:0869124 |
severe acute respiratory syndrome |
GARD:9237 |
MONDO:equivalentTo |
Severe acute respiratory syndrome |
|
|
MONDO:0869125 |
parkinson-dementia complex of guam |
GARD:9239 |
MONDO:equivalentTo |
Parkinson-dementia complex of Guam |
|
|
MONDO:0869126 |
familial advanced sleep-phase syndrome |
GARD:9242 |
MONDO:equivalentTo |
Familial advanced sleep-phase syndrome |
|
|
MONDO:0869127 |
primary effusion lymphoma |
GARD:9247 |
MONDO:equivalentTo |
Primary effusion lymphoma |
|
|
MONDO:0869128 |
tubulointerstitial nephritis and uveitis syndrome |
GARD:9252 |
MONDO:equivalentTo |
Tubulointerstitial nephritis and uveitis syndrome |
|
|
MONDO:0869129 |
early infantile epileptic encephalopathy |
GARD:9255 |
MONDO:equivalentTo |
Early infantile epileptic encephalopathy |
|
|
MONDO:0869130 |
sunct syndrome |
GARD:9257 |
MONDO:equivalentTo |
SUNCT syndrome |
|
|
MONDO:0869131 |
perineural cyst |
GARD:9258 |
MONDO:equivalentTo |
Perineural cyst |
|
|
MONDO:0869132 |
classic glucose transporter type 1 deficiency syndrome |
GARD:9265 |
MONDO:equivalentTo |
Classic glucose transporter type 1 deficiency syndrome |
|
|
MONDO:0869133 |
cutaneous neuroendocrine carcinoma |
GARD:9266 |
MONDO:equivalentTo |
Cutaneous neuroendocrine carcinoma |
|
|
MONDO:0869134 |
thiel-behnke corneal dystrophy |
GARD:9275 |
MONDO:equivalentTo |
Thiel-Behnke corneal dystrophy |
|
|
MONDO:0869135 |
reis-bücklers corneal dystrophy |
GARD:9276 |
MONDO:equivalentTo |
Reis-Bücklers corneal dystrophy |
|
|
MONDO:0869136 |
schnyder corneal dystrophy |
GARD:9277 |
MONDO:equivalentTo |
Schnyder corneal dystrophy |
|
|
MONDO:0869137 |
granular corneal dystrophy type ii |
GARD:9278 |
MONDO:equivalentTo |
Granular corneal dystrophy type II |
|
|
MONDO:0869138 |
formiminoglutamic aciduria |
GARD:9279 |
MONDO:equivalentTo |
Formiminoglutamic aciduria |
|
|
MONDO:0869139 |
cholestasis-pigmentary retinopathy-cleft palate syndrome |
GARD:9280 |
MONDO:equivalentTo |
Cholestasis-pigmentary retinopathy-cleft palate syndrome |
|
|
MONDO:0869140 |
familial atypical multiple mole melanoma syndrome |
GARD:9281 |
MONDO:equivalentTo |
Familial atypical multiple mole melanoma syndrome |
|
|
MONDO:0869141 |
white platelet syndrome |
GARD:9282 |
MONDO:equivalentTo |
White platelet syndrome |
|
|
MONDO:0869142 |
ataxia-oculomotor apraxia type 1 |
GARD:9283 |
MONDO:equivalentTo |
Ataxia-oculomotor apraxia type 1 |
|
|
MONDO:0869143 |
amoebic keratitis |
GARD:9285 |
MONDO:equivalentTo |
Amoebic keratitis |
|
|
MONDO:0869144 |
atelosteogenesis type i |
GARD:9287 |
MONDO:equivalentTo |
Atelosteogenesis type I |
|
|
MONDO:0869145 |
x-linked intellectual disability, schimke type |
GARD:9288 |
MONDO:equivalentTo |
X-linked intellectual disability, Schimke type |
|
|
MONDO:0869146 |
microphthalmia-brain atrophy syndrome |
GARD:9292 |
MONDO:equivalentTo |
Microphthalmia-brain atrophy syndrome |
|
|
MONDO:0869147 |
timothy syndrome |
GARD:9294 |
MONDO:equivalentTo |
Timothy syndrome |
|
|
MONDO:0869148 |
thanatophoric dysplasia type 1 |
GARD:9295 |
MONDO:equivalentTo |
Thanatophoric dysplasia type 1 |
|
|
MONDO:0869149 |
autosomal recessive spastic paraplegia type 24 |
GARD:9296 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 24 |
|
|
MONDO:0869150 |
whim syndrome |
GARD:9297 |
MONDO:equivalentTo |
WHIM syndrome |
|
|
MONDO:0869151 |
pyridoxine-dependent epilepsy |
GARD:9298 |
MONDO:equivalentTo |
Pyridoxine-dependent epilepsy |
|
|
MONDO:0869152 |
acute ackee fruit intoxication |
GARD:9299 |
MONDO:equivalentTo |
Acute ackee fruit intoxication |
|
|
MONDO:0869153 |
monilethrix |
GARD:93 |
MONDO:equivalentTo |
Monilethrix |
|
|
MONDO:0869154 |
cholangiocarcinoma |
GARD:9304 |
MONDO:equivalentTo |
Cholangiocarcinoma |
|
|
MONDO:0869155 |
neuroendocrine neoplasm |
GARD:9316 |
MONDO:equivalentTo |
Neuroendocrine neoplasm |
|
|
MONDO:0869156 |
primary central nervous system lymphoma |
GARD:9318 |
MONDO:equivalentTo |
Primary central nervous system lymphoma |
|
|
MONDO:0869157 |
myeloproliferative neoplasm |
GARD:9319 |
MONDO:equivalentTo |
Myeloproliferative neoplasm |
|
|
MONDO:0869158 |
böök syndrome |
GARD:932 |
MONDO:equivalentTo |
Böök syndrome |
|
|
MONDO:0869159 |
extragonadal germ cell tumor |
GARD:9325 |
MONDO:equivalentTo |
Extragonadal germ cell tumor |
|
|
MONDO:0869160 |
boomerang dysplasia |
GARD:933 |
MONDO:equivalentTo |
Boomerang dysplasia |
|
|
MONDO:0869161 |
malignant germ cell tumor of ovary |
GARD:9330 |
MONDO:equivalentTo |
Malignant germ cell tumor of ovary |
|
|
MONDO:0869162 |
pediatric hepatocellular carcinoma |
GARD:9331 |
MONDO:equivalentTo |
Pediatric hepatocellular carcinoma |
|
|
MONDO:0869163 |
small cell lung cancer |
GARD:9344 |
MONDO:equivalentTo |
Small cell lung cancer |
|
|
MONDO:0869164 |
vaginal carcinoma |
GARD:9348 |
MONDO:equivalentTo |
Vaginal carcinoma |
|
|
MONDO:0869165 |
vulvar carcinoma |
GARD:9349 |
MONDO:equivalentTo |
Vulvar carcinoma |
|
|
MONDO:0869166 |
myelodysplastic/myeloproliferative disease |
GARD:9351 |
MONDO:equivalentTo |
Myelodysplastic/myeloproliferative disease |
|
|
MONDO:0869167 |
borjeson-forssman-lehmann syndrome |
GARD:936 |
MONDO:equivalentTo |
Borjeson-Forssman-Lehmann syndrome |
|
|
MONDO:0869168 |
malignant epithelial tumor of ovary |
GARD:9362 |
MONDO:equivalentTo |
Malignant epithelial tumor of ovary |
|
|
MONDO:0869169 |
borderline epithelial tumor of ovary |
GARD:9363 |
MONDO:equivalentTo |
Borderline epithelial tumor of ovary |
|
|
MONDO:0869170 |
rare tumor of pancreas |
GARD:9364 |
MONDO:equivalentTo |
Rare tumor of pancreas |
|
|
MONDO:0869171 |
malignant tumor of penis |
GARD:9366 |
MONDO:equivalentTo |
Malignant tumor of penis |
|
|
MONDO:0869172 |
pineoblastoma |
GARD:9369 |
MONDO:equivalentTo |
Pineoblastoma |
|
|
MONDO:0869173 |
pituitary carcinoma |
GARD:9371 |
MONDO:equivalentTo |
Pituitary carcinoma |
|
|
MONDO:0869174 |
plasma cell leukemia |
GARD:9373 |
MONDO:equivalentTo |
Plasma cell leukemia |
|
|
MONDO:0869175 |
upper tract urothelial carcinoma |
GARD:9376 |
MONDO:equivalentTo |
Upper tract urothelial carcinoma |
|
|
MONDO:0869176 |
tricho-retino-dento-digital syndrome |
GARD:938 |
MONDO:equivalentTo |
Tricho-retino-dento-digital syndrome |
|
|
MONDO:0869177 |
mucolipidosis type iv |
GARD:94 |
MONDO:equivalentTo |
Mucolipidosis type IV |
|
|
MONDO:0869178 |
tako-tsubo cardiomyopathy |
GARD:9400 |
MONDO:equivalentTo |
Tako-Tsubo cardiomyopathy |
|
|
MONDO:0869179 |
phyllodes tumor of the prostate |
GARD:9404 |
MONDO:equivalentTo |
Phyllodes tumor of the prostate |
|
|
MONDO:0869180 |
x-linked cerebral adrenoleukodystrophy |
GARD:9412 |
MONDO:equivalentTo |
X-linked cerebral adrenoleukodystrophy |
|
|
MONDO:0869181 |
cochleosaccular degeneration-cataract syndrome |
GARD:9418 |
MONDO:equivalentTo |
Cochleosaccular degeneration-cataract syndrome |
|
|
MONDO:0869182 |
diphyllobothriasis |
GARD:942 |
MONDO:equivalentTo |
Diphyllobothriasis |
|
|
MONDO:0869183 |
pierson syndrome |
GARD:9420 |
MONDO:equivalentTo |
Pierson syndrome |
|
|
MONDO:0869184 |
rhizomelic chondrodysplasia punctata type 2 |
GARD:9429 |
MONDO:equivalentTo |
Rhizomelic chondrodysplasia punctata type 2 |
|
|
MONDO:0869185 |
botulism |
GARD:943 |
MONDO:equivalentTo |
Botulism |
|
|
MONDO:0869186 |
congenital thrombotic thrombocytopenic purpura |
GARD:9430 |
MONDO:equivalentTo |
Congenital thrombotic thrombocytopenic purpura |
|
|
MONDO:0869187 |
organic aciduria |
GARD:9433 |
MONDO:equivalentTo |
Organic aciduria |
|
|
MONDO:0869188 |
ataxia-hypogonadism-choroidal dystrophy syndrome |
GARD:944 |
MONDO:equivalentTo |
Ataxia-hypogonadism-choroidal dystrophy syndrome |
|
|
MONDO:0869189 |
temple-baraitser syndrome |
GARD:9441 |
MONDO:equivalentTo |
Temple-Baraitser syndrome |
|
|
MONDO:0869190 |
glycogen storage disease due to glycogen debranching enzyme deficiency |
GARD:9442 |
MONDO:equivalentTo |
Glycogen storage disease due to glycogen debranching enzyme deficiency |
|
|
MONDO:0869191 |
severe achondroplasia-developmental delay-acanthosis nigricans syndrome |
GARD:9443 |
MONDO:equivalentTo |
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome |
|
|
MONDO:0869192 |
marburg hemorrhagic fever |
GARD:9444 |
MONDO:equivalentTo |
Marburg hemorrhagic fever |
|
|
MONDO:0869193 |
infantile neuronal ceroid lipofuscinosis |
GARD:9447 |
MONDO:equivalentTo |
Infantile neuronal ceroid lipofuscinosis |
|
|
MONDO:0869194 |
camptodactyly of fingers |
GARD:9448 |
MONDO:equivalentTo |
Camptodactyly of fingers |
|
|
MONDO:0869195 |
waterhouse-friderichsen syndrome |
GARD:9449 |
MONDO:equivalentTo |
Waterhouse-Friderichsen syndrome |
|
|
MONDO:0869196 |
familial juvenile hypertrophy of the breast |
GARD:9450 |
MONDO:equivalentTo |
Familial juvenile hypertrophy of the breast |
|
|
MONDO:0869197 |
pilomatrixoma |
GARD:9452 |
MONDO:equivalentTo |
Pilomatrixoma |
|
|
MONDO:0869198 |
andersen-tawil syndrome |
GARD:9453 |
MONDO:equivalentTo |
Andersen-Tawil syndrome |
|
|
MONDO:0869199 |
joubert syndrome with oculorenal defect |
GARD:9455 |
MONDO:equivalentTo |
Joubert syndrome with oculorenal defect |
|
|
MONDO:0869200 |
x-linked sideroblastic anemia |
GARD:9456 |
MONDO:equivalentTo |
X-linked sideroblastic anemia |
|
|
MONDO:0869201 |
isolated polycystic liver disease |
GARD:9457 |
MONDO:equivalentTo |
Isolated polycystic liver disease |
|
|
MONDO:0869202 |
pseudodiastrophic dysplasia |
GARD:9463 |
MONDO:equivalentTo |
Pseudodiastrophic dysplasia |
|
|
MONDO:0869203 |
anaplastic oligodendroglioma |
GARD:9472 |
MONDO:equivalentTo |
Anaplastic oligodendroglioma |
|
|
MONDO:0869204 |
melorheostosis |
GARD:9474 |
MONDO:equivalentTo |
Melorheostosis |
|
|
MONDO:0869205 |
vitamin b12-responsive methylmalonic acidemia type cblb |
GARD:9479 |
MONDO:equivalentTo |
Vitamin B12-responsive methylmalonic acidemia type cblB |
|
|
MONDO:0869206 |
autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis |
GARD:9481 |
MONDO:equivalentTo |
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis |
|
|
MONDO:0869207 |
superficial siderosis |
GARD:9484 |
MONDO:equivalentTo |
Superficial siderosis |
|
|
MONDO:0869208 |
isolated congenital anosmia |
GARD:9486 |
MONDO:equivalentTo |
Isolated congenital anosmia |
|
|
MONDO:0869209 |
cyprus facial-neuromusculoskeletal syndrome |
GARD:9487 |
MONDO:equivalentTo |
Cyprus facial-neuromusculoskeletal syndrome |
|
|
MONDO:0869210 |
isolated congenital breast hypoplasia/aplasia |
GARD:9489 |
MONDO:equivalentTo |
Isolated congenital breast hypoplasia/aplasia |
|
|
MONDO:0869211 |
gne myopathy |
GARD:9493 |
MONDO:equivalentTo |
GNE myopathy |
|
|
MONDO:0869212 |
hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome |
GARD:9494 |
MONDO:equivalentTo |
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome |
|
|
MONDO:0869213 |
hereditary renal hypouricemia |
GARD:9496 |
MONDO:equivalentTo |
Hereditary renal hypouricemia |
|
|
MONDO:0869214 |
aceruloplasminemia |
GARD:9499 |
MONDO:equivalentTo |
Aceruloplasminemia |
|
|
MONDO:0869215 |
mulibrey nanism |
GARD:95 |
MONDO:equivalentTo |
Mulibrey nanism |
|
|
MONDO:0869216 |
hereditary geniospasm |
GARD:9501 |
MONDO:equivalentTo |
Hereditary geniospasm |
|
|
MONDO:0869217 |
craniosynostosis-anal anomalies-porokeratosis syndrome |
GARD:9506 |
MONDO:equivalentTo |
Craniosynostosis-anal anomalies-porokeratosis syndrome |
|
|
MONDO:0869218 |
cerulean cataract |
GARD:9508 |
MONDO:equivalentTo |
Cerulean cataract |
|
|
MONDO:0869219 |
renpenning syndrome |
GARD:9509 |
MONDO:equivalentTo |
Renpenning syndrome |
|
|
MONDO:0869220 |
histiocytoid cardiomyopathy |
GARD:9511 |
MONDO:equivalentTo |
Histiocytoid cardiomyopathy |
|
|
MONDO:0869221 |
phyllodes tumor of the breast |
GARD:9514 |
MONDO:equivalentTo |
Phyllodes tumor of the breast |
|
|
MONDO:0869222 |
bilateral multicystic dysplastic kidney |
GARD:9517 |
MONDO:equivalentTo |
Bilateral multicystic dysplastic kidney |
|
|
MONDO:0869223 |
coccidioidomycosis |
GARD:9525 |
MONDO:equivalentTo |
Coccidioidomycosis |
|
|
MONDO:0869224 |
cyclosporosis |
GARD:9528 |
MONDO:equivalentTo |
Cyclosporosis |
|
|
MONDO:0869225 |
congenital bowing of long bones |
GARD:953 |
MONDO:equivalentTo |
Congenital bowing of long bones |
|
|
MONDO:0869226 |
chronic epstein-barr virus infection syndrome |
GARD:9534 |
MONDO:equivalentTo |
Chronic Epstein-Barr virus infection syndrome |
|
|
MONDO:0869227 |
familial cold urticaria |
GARD:9535 |
MONDO:equivalentTo |
Familial cold urticaria |
|
|
MONDO:0869228 |
melioidosis |
GARD:9546 |
MONDO:equivalentTo |
Melioidosis |
|
|
MONDO:0869229 |
branchioskeletogenital syndrome |
GARD:955 |
MONDO:equivalentTo |
Branchioskeletogenital syndrome |
|
|
MONDO:0869230 |
variant creutzfeldt-jakob disease |
GARD:9550 |
MONDO:equivalentTo |
Variant Creutzfeldt-Jakob disease |
|
|
MONDO:0869231 |
post-transplant lymphoproliferative disease |
GARD:9553 |
MONDO:equivalentTo |
Post-transplant lymphoproliferative disease |
|
|
MONDO:0869232 |
rat-bite fever |
GARD:9557 |
MONDO:equivalentTo |
Rat-bite fever |
|
|
MONDO:0869233 |
autosomal dominant severe congenital neutropenia |
GARD:9558 |
MONDO:equivalentTo |
Autosomal dominant severe congenital neutropenia |
|
|
MONDO:0869234 |
bacterial toxic-shock syndrome |
GARD:9560 |
MONDO:equivalentTo |
Bacterial toxic-shock syndrome |
|
|
MONDO:0869235 |
typhoid |
GARD:9564 |
MONDO:equivalentTo |
Typhoid |
|
|
MONDO:0869236 |
igg4-related retroperitoneal fibrosis |
GARD:9568 |
MONDO:equivalentTo |
IgG4-related retroperitoneal fibrosis |
|
|
MONDO:0869237 |
dermatofibrosarcoma protuberans |
GARD:9569 |
MONDO:equivalentTo |
Dermatofibrosarcoma protuberans |
|
|
MONDO:0869238 |
specc1l-related hypertelorism syndrome |
GARD:957 |
MONDO:equivalentTo |
SPECC1L-related hypertelorism syndrome |
|
|
MONDO:0869239 |
hereditary clear cell renal cell carcinoma |
GARD:9571 |
MONDO:equivalentTo |
Hereditary clear cell renal cell carcinoma |
|
|
MONDO:0869240 |
papillary renal cell carcinoma |
GARD:9572 |
MONDO:equivalentTo |
Papillary renal cell carcinoma |
|
|
MONDO:0869241 |
collecting duct carcinoma |
GARD:9573 |
MONDO:equivalentTo |
Collecting duct carcinoma |
|
|
MONDO:0869242 |
clear cell renal carcinoma |
GARD:9574 |
MONDO:equivalentTo |
Clear cell renal carcinoma |
|
|
MONDO:0869243 |
acute fatty liver of pregnancy |
GARD:9578 |
MONDO:equivalentTo |
Acute fatty liver of pregnancy |
|
|
MONDO:0869244 |
aymé-gripp syndrome |
GARD:958 |
MONDO:equivalentTo |
Aymé-Gripp syndrome |
|
|
MONDO:0869245 |
autosomal recessive spastic paraplegia type 15 |
GARD:9581 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 15 |
|
|
MONDO:0869246 |
autosomal recessive spastic paraplegia type 25 |
GARD:9582 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 25 |
|
|
MONDO:0869247 |
autosomal dominant spastic paraplegia type 9a |
GARD:9583 |
MONDO:equivalentTo |
Autosomal dominant spastic paraplegia type 9A |
|
|
MONDO:0869248 |
x-linked spastic paraplegia type 16 |
GARD:9585 |
MONDO:equivalentTo |
X-linked spastic paraplegia type 16 |
|
|
MONDO:0869249 |
autosomal dominant spastic paraplegia type 12 |
GARD:9586 |
MONDO:equivalentTo |
Autosomal dominant spastic paraplegia type 12 |
|
|
MONDO:0869250 |
autosomal recessive spastic paraplegia type 26 |
GARD:9587 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 26 |
|
|
MONDO:0869251 |
autosomal dominant spastic paraplegia type 19 |
GARD:9588 |
MONDO:equivalentTo |
Autosomal dominant spastic paraplegia type 19 |
|
|
MONDO:0869252 |
autosomal recessive spastic paraplegia type 14 |
GARD:9589 |
MONDO:equivalentTo |
Autosomal recessive spastic paraplegia type 14 |
|
|
MONDO:0869253 |
autosomal dominant spastic paraplegia type 10 |
GARD:9590 |
MONDO:equivalentTo |
Autosomal dominant spastic paraplegia type 10 |
|
|
MONDO:0869254 |
autosomal dominant spastic paraplegia type 8 |
GARD:9591 |
MONDO:equivalentTo |
Autosomal dominant spastic paraplegia type 8 |
|
|
MONDO:0869255 |
congenital atransferrinemia |
GARD:9595 |
MONDO:equivalentTo |
Congenital atransferrinemia |
|
|
MONDO:0869256 |
brachydactylous dwarfism, mseleni type |
GARD:960 |
MONDO:equivalentTo |
Brachydactylous dwarfism, Mseleni type |
|
|
MONDO:0869257 |
familial paroxysmal ataxia |
GARD:9602 |
MONDO:equivalentTo |
Familial paroxysmal ataxia |
|
|
MONDO:0869258 |
spinocerebellar ataxia type 13 |
GARD:9611 |
MONDO:equivalentTo |
Spinocerebellar ataxia type 13 |
|
|
MONDO:0869259 |
giant cell arteritis |
GARD:9615 |
MONDO:equivalentTo |
Giant cell arteritis |
|
|
MONDO:0869260 |
autosomal dominant spastic paraplegia type 13 |
GARD:9616 |
MONDO:equivalentTo |
Autosomal dominant spastic paraplegia type 13 |
|
|
MONDO:0869261 |
acute erythroid leukemia |
GARD:9620 |
MONDO:equivalentTo |
Acute erythroid leukemia |
|
|
MONDO:0869262 |
polyembryoma |
GARD:9621 |
MONDO:equivalentTo |
Polyembryoma |
|
|
MONDO:0869263 |
rapid-onset dystonia-parkinsonism |
GARD:9628 |
MONDO:equivalentTo |
Rapid-onset dystonia-parkinsonism |
|
|
MONDO:0869264 |
primary dystonia, dyt6 type |
GARD:9630 |
MONDO:equivalentTo |
Primary dystonia, DYT6 type |
|
|
MONDO:0869265 |
odontoleukodystrophy |
GARD:9632 |
MONDO:equivalentTo |
Odontoleukodystrophy |
|
|
MONDO:0869266 |
fetal akinesia deformation sequence |
GARD:9634 |
MONDO:equivalentTo |
Fetal akinesia deformation sequence |
|
|
MONDO:0869267 |
pruritic urticarial papules and plaques of pregnancy |
GARD:9635 |
MONDO:equivalentTo |
Pruritic urticarial papules and plaques of pregnancy |
|
|
MONDO:0869268 |
autosomal agammaglobulinemia |
GARD:9640 |
MONDO:equivalentTo |
Autosomal agammaglobulinemia |
|
|
MONDO:0869269 |
pseudoxanthoma elasticum |
GARD:9643 |
MONDO:equivalentTo |
Pseudoxanthoma elasticum |
|
|
MONDO:0869270 |
gelatinous drop-like corneal dystrophy |
GARD:9647 |
MONDO:equivalentTo |
Gelatinous drop-like corneal dystrophy |
|
|
MONDO:0869271 |
oncogenic osteomalacia |
GARD:9652 |
MONDO:equivalentTo |
Oncogenic osteomalacia |
|
|
MONDO:0869272 |
hydroa vacciniforme |
GARD:9654 |
MONDO:equivalentTo |
Hydroa vacciniforme |
|
|
MONDO:0869273 |
anauxetic dysplasia |
GARD:9657 |
MONDO:equivalentTo |
Anauxetic dysplasia |
|
|
MONDO:0869274 |
bartter syndrome type 3 |
GARD:9659 |
MONDO:equivalentTo |
Bartter syndrome type 3 |
|
|
MONDO:0869275 |
brachydactyly-elbow wrist dysplasia syndrome |
GARD:966 |
MONDO:equivalentTo |
Brachydactyly-elbow wrist dysplasia syndrome |
|
|
MONDO:0869276 |
gynandroblastoma |
GARD:9665 |
MONDO:equivalentTo |
Gynandroblastoma |
|
|
MONDO:0869277 |
brachydactyly-arterial hypertension syndrome |
GARD:967 |
MONDO:equivalentTo |
Brachydactyly-arterial hypertension syndrome |
|
|
MONDO:0869278 |
congenital factor xi deficiency |
GARD:9670 |
MONDO:equivalentTo |
Congenital factor XI deficiency |
|
|
MONDO:0869279 |
mowat-wilson syndrome |
GARD:9673 |
MONDO:equivalentTo |
Mowat-Wilson syndrome |
|
|
MONDO:0869280 |
isotretinoin-like syndrome |
GARD:9675 |
MONDO:equivalentTo |
Isotretinoin-like syndrome |
|
|
MONDO:0869281 |
miyoshi myopathy |
GARD:9676 |
MONDO:equivalentTo |
Miyoshi myopathy |
|
|
MONDO:0869282 |
granular corneal dystrophy type i |
GARD:9677 |
MONDO:equivalentTo |
Granular corneal dystrophy type I |
|
|
MONDO:0869283 |
lattice corneal dystrophy type i |
GARD:9678 |
MONDO:equivalentTo |
Lattice corneal dystrophy type I |
|
|
MONDO:0869284 |
temtamy preaxial brachydactyly syndrome |
GARD:9679 |
MONDO:equivalentTo |
Temtamy preaxial brachydactyly syndrome |
|
|
MONDO:0869285 |
brachydactyly-long thumb syndrome |
GARD:968 |
MONDO:equivalentTo |
Brachydactyly-long thumb syndrome |
|
|
MONDO:0869286 |
rhyns syndrome |
GARD:9681 |
MONDO:equivalentTo |
RHYNS syndrome |
|
|
MONDO:0869287 |
rhizomelic chondrodysplasia punctata type 3 |
GARD:9682 |
MONDO:equivalentTo |
Rhizomelic chondrodysplasia punctata type 3 |
|
|
MONDO:0869288 |
chylomicron retention disease |
GARD:9683 |
MONDO:equivalentTo |
Chylomicron retention disease |
|
|
MONDO:0869289 |
sandifer syndrome |
GARD:9684 |
MONDO:equivalentTo |
Sandifer syndrome |
|
|
MONDO:0869290 |
schistosomiasis |
GARD:9687 |
MONDO:equivalentTo |
Schistosomiasis |
|
|
MONDO:0869291 |
meesmann corneal dystrophy |
GARD:9688 |
MONDO:equivalentTo |
Meesmann corneal dystrophy |
|
|
MONDO:0869292 |
kienbock disease |
GARD:9690 |
MONDO:equivalentTo |
Kienbock disease |
|
|
MONDO:0869293 |
congenital patella dislocation |
GARD:9692 |
MONDO:equivalentTo |
Congenital patella dislocation |
|
|
MONDO:0869294 |
junctional epidermolysis bullosa with pyloric atresia |
GARD:9694 |
MONDO:equivalentTo |
Junctional epidermolysis bullosa with pyloric atresia |
|
|
MONDO:0869295 |
ring dermoid of cornea |
GARD:9696 |
MONDO:equivalentTo |
Ring dermoid of cornea |
|
|
MONDO:0869296 |
monomelic amyotrophy |
GARD:9697 |
MONDO:equivalentTo |
Monomelic amyotrophy |
|
|
MONDO:0869297 |
recombinant 8 syndrome |
GARD:9698 |
MONDO:equivalentTo |
Recombinant 8 syndrome |
|
|
MONDO:0869298 |
x-linked intellectual disability, siderius type |
GARD:9704 |
MONDO:equivalentTo |
X-linked intellectual disability, Siderius type |
|
|
MONDO:0869299 |
ectodermal dysplasia-skin fragility syndrome |
GARD:9705 |
MONDO:equivalentTo |
Ectodermal dysplasia-skin fragility syndrome |
|
|
MONDO:0869300 |
snowflake vitreoretinal degeneration |
GARD:9706 |
MONDO:equivalentTo |
Snowflake vitreoretinal degeneration |
|
|
MONDO:0869301 |
familial cylindromatosis |
GARD:9707 |
MONDO:equivalentTo |
Familial cylindromatosis |
|
|
MONDO:0869302 |
brachydactyly-nystagmus-cerebellar ataxia syndrome |
GARD:971 |
MONDO:equivalentTo |
Brachydactyly-nystagmus-cerebellar ataxia syndrome |
|
|
MONDO:0869303 |
lathosterolosis |
GARD:9711 |
MONDO:equivalentTo |
Lathosterolosis |
|
|
MONDO:0869304 |
griscelli syndrome type 3 |
GARD:9715 |
MONDO:equivalentTo |
Griscelli syndrome type 3 |
|
|
MONDO:0869305 |
brachydactyly-preaxial hallux varus syndrome |
GARD:972 |
MONDO:equivalentTo |
Brachydactyly-preaxial hallux varus syndrome |
|
|
MONDO:0869306 |
ectodermal dysplasia-sensorineural deafness syndrome |
GARD:9723 |
MONDO:equivalentTo |
Ectodermal dysplasia-sensorineural deafness syndrome |
|
|
MONDO:0869307 |
nephrogenic systemic fibrosis |
GARD:9725 |
MONDO:equivalentTo |
Nephrogenic systemic fibrosis |
|
|
MONDO:0869308 |
proximal myotonic myopathy |
GARD:9728 |
MONDO:equivalentTo |
Proximal myotonic myopathy |
|
|
MONDO:0869309 |
autosomal dominant spastic paraplegia type 29 |
GARD:9729 |
MONDO:equivalentTo |
Autosomal dominant spastic paraplegia type 29 |
|
|
MONDO:0869310 |
glycogen storage disease due to lamp-2 deficiency |
GARD:9730 |
MONDO:equivalentTo |
Glycogen storage disease due to LAMP-2 deficiency |
|
|
MONDO:0869311 |
epithelial basement membrane dystrophy |
GARD:9732 |
MONDO:equivalentTo |
Epithelial basement membrane dystrophy |
|
|
MONDO:0869312 |
congenital non-bullous ichthyosiform erythroderma |
GARD:9736 |
MONDO:equivalentTo |
Congenital non-bullous ichthyosiform erythroderma |
|
|
MONDO:0869313 |
epidermolysis bullosa simplex with mottled pigmentation |
GARD:9737 |
MONDO:equivalentTo |
Epidermolysis bullosa simplex with mottled pigmentation |
|
|
MONDO:0869314 |
familial atrial fibrillation |
GARD:9740 |
MONDO:equivalentTo |
Familial atrial fibrillation |
|
|
MONDO:0869315 |
neurological conditions associated with aminoacylase 1 deficiency |
GARD:9741 |
MONDO:equivalentTo |
Neurological conditions associated with aminoacylase 1 deficiency |
|
|
MONDO:0869316 |
ankylostomiasis |
GARD:9742 |
MONDO:equivalentTo |
Ankylostomiasis |
|
|
MONDO:0869317 |
atrophoderma vermiculata |
GARD:9744 |
MONDO:equivalentTo |
Atrophoderma vermiculata |
|
|
MONDO:0869318 |
systemic sclerosis |
GARD:9748 |
MONDO:equivalentTo |
Systemic sclerosis |
|
|
MONDO:0869319 |
limited systemic sclerosis |
GARD:9749 |
MONDO:equivalentTo |
Limited systemic sclerosis |
|
|
MONDO:0869320 |
diffuse cutaneous systemic sclerosis |
GARD:9751 |
MONDO:equivalentTo |
Diffuse cutaneous systemic sclerosis |
|
|
MONDO:0869321 |
infantile nephropathic cystinosis |
GARD:9755 |
MONDO:equivalentTo |
Infantile nephropathic cystinosis |
|
|
MONDO:0869322 |
ocular cystinosis |
GARD:9756 |
MONDO:equivalentTo |
Ocular cystinosis |
|
|
MONDO:0869323 |
familial hypocalciuric hypercalcemia type 2 |
GARD:9758 |
MONDO:equivalentTo |
Familial hypocalciuric hypercalcemia type 2 |
|
|
MONDO:0869324 |
leukonychia totalis |
GARD:9759 |
MONDO:equivalentTo |
Leukonychia totalis |
|
|
MONDO:0869325 |
isolated congenital onychodysplasia |
GARD:9761 |
MONDO:equivalentTo |
Isolated congenital onychodysplasia |
|
|
MONDO:0869326 |
potocki-shaffer syndrome |
GARD:9762 |
MONDO:equivalentTo |
Potocki-Shaffer syndrome |
|
|
MONDO:0869327 |
morvan syndrome |
GARD:9766 |
MONDO:equivalentTo |
Morvan syndrome |
|
|
MONDO:0869328 |
necrotizing enterocolitis |
GARD:9767 |
MONDO:equivalentTo |
Necrotizing enterocolitis |
|
|
MONDO:0869329 |
oligoastrocytoma |
GARD:9769 |
MONDO:equivalentTo |
Oligoastrocytoma |
|
|
MONDO:0869330 |
dowling-degos disease |
GARD:9775 |
MONDO:equivalentTo |
Dowling-Degos disease |
|
|
MONDO:0869331 |
canomad syndrome |
GARD:9778 |
MONDO:equivalentTo |
CANOMAD syndrome |
|
|
MONDO:0869332 |
brachydactyly type a1 |
GARD:978 |
MONDO:equivalentTo |
Brachydactyly type A1 |
|
|
MONDO:0869333 |
proximal xq28 duplication syndrome |
GARD:9781 |
MONDO:equivalentTo |
Proximal Xq28 duplication syndrome |
|
|
MONDO:0869334 |
parkes weber syndrome |
GARD:9787 |
MONDO:equivalentTo |
Parkes Weber syndrome |
|
|
MONDO:0869335 |
rare lymphatic malformation |
GARD:9789 |
MONDO:equivalentTo |
Rare lymphatic malformation |
|
|
MONDO:0869336 |
brachydactyly type a2 |
GARD:979 |
MONDO:equivalentTo |
Brachydactyly type A2 |
|
|
MONDO:0869337 |
multiple epiphyseal dysplasia type 4 |
GARD:9793 |
MONDO:equivalentTo |
Multiple epiphyseal dysplasia type 4 |
|
|
MONDO:0869338 |
multiple epiphyseal dysplasia type 5 |
GARD:9794 |
MONDO:equivalentTo |
Multiple epiphyseal dysplasia type 5 |
|
|
MONDO:0869339 |
naxos disease |
GARD:9795 |
MONDO:equivalentTo |
Naxos disease |
|
|
MONDO:0869340 |
autoimmune lymphoproliferative syndrome with recurrent viral infections |
GARD:9796 |
MONDO:equivalentTo |
Autoimmune lymphoproliferative syndrome with recurrent viral infections |
|
|
MONDO:0869341 |
dianzani autoimmune lymphoproliferative disease |
GARD:9797 |
MONDO:equivalentTo |
Dianzani autoimmune lymphoproliferative disease |
|
|
MONDO:0869342 |
auriculocondylar syndrome |
GARD:9798 |
MONDO:equivalentTo |
Auriculocondylar syndrome |
|
|
MONDO:0869343 |
familial cutaneous collagenoma |
GARD:9799 |
MONDO:equivalentTo |
Familial cutaneous collagenoma |
|
|
MONDO:0869344 |
progressive familial intrahepatic cholestasis type 1 |
GARD:9802 |
MONDO:equivalentTo |
Progressive familial intrahepatic cholestasis type 1 |
|
|
MONDO:0869345 |
progressive familial intrahepatic cholestasis type 4 |
GARD:9803 |
MONDO:equivalentTo |
Progressive familial intrahepatic cholestasis type 4 |
|
|
MONDO:0869346 |
intrahepatic cholestasis of pregnancy |
GARD:9804 |
MONDO:equivalentTo |
Intrahepatic cholestasis of pregnancy |
|
|
MONDO:0869347 |
vibratory urticaria |
GARD:9806 |
MONDO:equivalentTo |
Vibratory urticaria |
|
|
MONDO:0869348 |
pilocytic astrocytoma |
GARD:9808 |
MONDO:equivalentTo |
Pilocytic astrocytoma |
|
|
MONDO:0869349 |
enteropathy-associated t-cell lymphoma |
GARD:9809 |
MONDO:equivalentTo |
Enteropathy-associated T-cell lymphoma |
|
|
MONDO:0869350 |
dyssegmental dysplasia, rolland-desbuquois type |
GARD:9810 |
MONDO:equivalentTo |
Dyssegmental dysplasia, Rolland-Desbuquois type |
|
|
MONDO:0869351 |
intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome |
GARD:9811 |
MONDO:equivalentTo |
Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome |
|
|
MONDO:0869352 |
t-cell large granular lymphocyte leukemia |
GARD:9812 |
MONDO:equivalentTo |
T-cell large granular lymphocyte leukemia |
|
|
MONDO:0869353 |
congenital bile acid synthesis defect type 1 |
GARD:9813 |
MONDO:equivalentTo |
Congenital bile acid synthesis defect type 1 |
|
|
MONDO:0869354 |
autosomal dominant dopa-responsive dystonia |
GARD:9817 |
MONDO:equivalentTo |
Autosomal dominant dopa-responsive dystonia |
|
|
MONDO:0869355 |
developmental malformations-deafness-dystonia syndrome |
GARD:9818 |
MONDO:equivalentTo |
Developmental malformations-deafness-dystonia syndrome |
|
|
MONDO:0869356 |
catastrophic antiphospholipid syndrome |
GARD:9820 |
MONDO:equivalentTo |
Catastrophic antiphospholipid syndrome |
|
|
MONDO:0869357 |
pattern dystrophy |
GARD:9821 |
MONDO:equivalentTo |
Pattern dystrophy |
|
|
MONDO:0869358 |
pmm2-cdg |
GARD:9826 |
MONDO:equivalentTo |
PMM2-CDG |
|
|
MONDO:0869359 |
alg3-cdg |
GARD:9827 |
MONDO:equivalentTo |
ALG3-CDG |
|
|
MONDO:0869360 |
mgat2-cdg |
GARD:9828 |
MONDO:equivalentTo |
MGAT2-CDG |
|
|
MONDO:0869361 |
alg6-cdg |
GARD:9829 |
MONDO:equivalentTo |
ALG6-CDG |
|
|
MONDO:0869362 |
brachydactyly type a6 |
GARD:983 |
MONDO:equivalentTo |
Brachydactyly type A6 |
|
|
MONDO:0869363 |
mpi-cdg |
GARD:9830 |
MONDO:equivalentTo |
MPI-CDG |
|
|
MONDO:0869364 |
dpm1-cdg |
GARD:9831 |
MONDO:equivalentTo |
DPM1-CDG |
|
|
MONDO:0869365 |
mpdu1-cdg |
GARD:9832 |
MONDO:equivalentTo |
MPDU1-CDG |
|
|
MONDO:0869366 |
alg12-cdg |
GARD:9833 |
MONDO:equivalentTo |
ALG12-CDG |
|
|
MONDO:0869367 |
alg8-cdg |
GARD:9834 |
MONDO:equivalentTo |
ALG8-CDG |
|
|
MONDO:0869368 |
emanuel syndrome |
GARD:9835 |
MONDO:equivalentTo |
Emanuel syndrome |
|
|
MONDO:0869369 |
alg2-cdg |
GARD:9836 |
MONDO:equivalentTo |
ALG2-CDG |
|
|
MONDO:0869370 |
dpagt1-cdg |
GARD:9837 |
MONDO:equivalentTo |
DPAGT1-CDG |
|
|
MONDO:0869371 |
alg1-cdg |
GARD:9838 |
MONDO:equivalentTo |
ALG1-CDG |
|
|
MONDO:0869372 |
alg9-cdg |
GARD:9839 |
MONDO:equivalentTo |
ALG9-CDG |
|
|
MONDO:0869373 |
brachydactyly type a7 |
GARD:984 |
MONDO:equivalentTo |
Brachydactyly type A7 |
|
|
MONDO:0869374 |
b4galt1-cdg |
GARD:9841 |
MONDO:equivalentTo |
B4GALT1-CDG |
|
|
MONDO:0869375 |
cog7-cdg |
GARD:9842 |
MONDO:equivalentTo |
COG7-CDG |
|
|
MONDO:0869376 |
primary familial polycythemia |
GARD:9843 |
MONDO:equivalentTo |
Primary familial polycythemia |
|
|
MONDO:0869377 |
microcephalic osteodysplastic primordial dwarfism type ii |
GARD:9844 |
MONDO:equivalentTo |
Microcephalic osteodysplastic primordial dwarfism type II |
|
|
MONDO:0869378 |
heart-hand syndrome, slovenian type |
GARD:9846 |
MONDO:equivalentTo |
Heart-hand syndrome, Slovenian type |
|
|
MONDO:0869379 |
heart-hand syndrome type 2 |
GARD:9847 |
MONDO:equivalentTo |
Heart-hand syndrome type 2 |
|
|
MONDO:0869380 |
congenital brain dysgenesis due to glutamine synthetase deficiency |
GARD:9848 |
MONDO:equivalentTo |
Congenital brain dysgenesis due to glutamine synthetase deficiency |
|
|
MONDO:0869381 |
goldberg-shprintzen megacolon syndrome |
GARD:9849 |
MONDO:equivalentTo |
Goldberg-Shprintzen megacolon syndrome |
|
|
MONDO:0869382 |
brachydactyly type b |
GARD:985 |
MONDO:equivalentTo |
Brachydactyly type B |
|
|
MONDO:0869383 |
omphalocele syndrome, shprintzen-goldberg type |
GARD:9850 |
MONDO:equivalentTo |
Omphalocele syndrome, Shprintzen-Goldberg type |
|
|
MONDO:0869384 |
brachydactyly type c |
GARD:986 |
MONDO:equivalentTo |
Brachydactyly type C |
|
|
MONDO:0869385 |
spondyloepimetaphyseal dysplasia with multiple dislocations |
GARD:9866 |
MONDO:equivalentTo |
Spondyloepimetaphyseal dysplasia with multiple dislocations |
|
|
MONDO:0869386 |
spinocerebellar ataxia type 14 |
GARD:9867 |
MONDO:equivalentTo |
Spinocerebellar ataxia type 14 |
|
|
MONDO:0869387 |
brachydactyly type e |
GARD:987 |
MONDO:equivalentTo |
Brachydactyly type E |
|
|
MONDO:0869388 |
hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency |
GARD:9870 |
MONDO:equivalentTo |
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency |
|
|
MONDO:0869389 |
lateral meningocele syndrome |
GARD:9873 |
MONDO:equivalentTo |
Lateral meningocele syndrome |
|
|
MONDO:0869390 |
fibular aplasia-complex brachydactyly syndrome |
GARD:9879 |
MONDO:equivalentTo |
Fibular aplasia-complex brachydactyly syndrome |
|
|
MONDO:0869391 |
hyperandrogenism due to cortisone reductase deficiency |
GARD:9882 |
MONDO:equivalentTo |
Hyperandrogenism due to cortisone reductase deficiency |
|
|
MONDO:0869392 |
juvenile myelomonocytic leukemia |
GARD:9884 |
MONDO:equivalentTo |
Juvenile myelomonocytic leukemia |
|
|
MONDO:0869393 |
ichthyosis-prematurity syndrome |
GARD:9886 |
MONDO:equivalentTo |
Ichthyosis-prematurity syndrome |
|
|
MONDO:0869394 |
benign concentric annular macular dystrophy |
GARD:9887 |
MONDO:equivalentTo |
Benign concentric annular macular dystrophy |
|
|
MONDO:0869395 |
pyruvate dehydrogenase phosphatase deficiency |
GARD:9888 |
MONDO:equivalentTo |
Pyruvate dehydrogenase phosphatase deficiency |
|
|
MONDO:0869396 |
autosomal dominant optic atrophy, classic form |
GARD:9890 |
MONDO:equivalentTo |
Autosomal dominant optic atrophy, classic form |
|
|
MONDO:0869397 |
posterior column ataxia-retinitis pigmentosa syndrome |
GARD:9898 |
MONDO:equivalentTo |
Posterior column ataxia-retinitis pigmentosa syndrome |
|
|
MONDO:0869398 |
brachydactyly type a4 |
GARD:990 |
MONDO:equivalentTo |
Brachydactyly type A4 |
|
|
MONDO:0869399 |
congenital pulmonary lymphangiectasia |
GARD:9900 |
MONDO:equivalentTo |
Congenital pulmonary lymphangiectasia |
|
|
MONDO:0869400 |
polysyndactyly |
GARD:9903 |
MONDO:equivalentTo |
Polysyndactyly |
|
|
MONDO:0869401 |
osteosclerosis-ichthyosis-premature ovarian failure syndrome |
GARD:9904 |
MONDO:equivalentTo |
Osteosclerosis-ichthyosis-premature ovarian failure syndrome |
|
|
MONDO:0869402 |
lynch syndrome |
GARD:9905 |
MONDO:equivalentTo |
Lynch syndrome |
|
|
MONDO:0869403 |
lethal acantholytic erosive disorder |
GARD:9910 |
MONDO:equivalentTo |
Lethal acantholytic erosive disorder |
|
|
MONDO:0869404 |
lennox-gastaut syndrome |
GARD:9912 |
MONDO:equivalentTo |
Lennox-Gastaut syndrome |
|
|
MONDO:0869405 |
oculoosteocutaneous syndrome |
GARD:992 |
MONDO:equivalentTo |
Oculoosteocutaneous syndrome |
|
|
MONDO:0869406 |
mitochondrial neurogastrointestinal encephalomyopathy |
GARD:9920 |
MONDO:equivalentTo |
Mitochondrial neurogastrointestinal encephalomyopathy |
|
|
MONDO:0869407 |
nasu-hakola disease |
GARD:9921 |
MONDO:equivalentTo |
Nasu-Hakola disease |
|
|
MONDO:0869408 |
hyperinsulinism-hyperammonemia syndrome |
GARD:9931 |
MONDO:equivalentTo |
Hyperinsulinism-hyperammonemia syndrome |
|
|
MONDO:0869409 |
exercise-induced hyperinsulinism |
GARD:9932 |
MONDO:equivalentTo |
Exercise-induced hyperinsulinism |
|
|
MONDO:0869410 |
hypohidrotic ectodermal dysplasia with immunodeficiency |
GARD:9936 |
MONDO:equivalentTo |
Hypohidrotic ectodermal dysplasia with immunodeficiency |
|
|
MONDO:0869411 |
spondyloepiphyseal dysplasia, maroteaux type |
GARD:994 |
MONDO:equivalentTo |
Spondyloepiphyseal dysplasia, Maroteaux type |
|
|
MONDO:0869412 |
cednik syndrome |
GARD:9940 |
MONDO:equivalentTo |
CEDNIK syndrome |
|
|
MONDO:0869413 |
facioscapulohumeral dystrophy |
GARD:9941 |
MONDO:equivalentTo |
Facioscapulohumeral dystrophy |
|
|
MONDO:0869414 |
x-linked intellectual disability-cerebellar hypoplasia syndrome |
GARD:9947 |
MONDO:equivalentTo |
X-linked intellectual disability-cerebellar hypoplasia syndrome |
|
|
MONDO:0869415 |
spinocerebellar ataxia type 23 |
GARD:9950 |
MONDO:equivalentTo |
Spinocerebellar ataxia type 23 |
|
|
MONDO:0869416 |
spinocerebellar ataxia type 28 |
GARD:9951 |
MONDO:equivalentTo |
Spinocerebellar ataxia type 28 |
|
|
MONDO:0869417 |
congenital primary aphakia |
GARD:9952 |
MONDO:equivalentTo |
Congenital primary aphakia |
|
|
MONDO:0869418 |
oligodendroglioma |
GARD:9953 |
MONDO:equivalentTo |
Oligodendroglioma |
|
|
MONDO:0869419 |
west-nile encephalitis |
GARD:9959 |
MONDO:equivalentTo |
West-Nile encephalitis |
|
|
MONDO:0869420 |
spinocerebellar ataxia type 27 |
GARD:9963 |
MONDO:equivalentTo |
Spinocerebellar ataxia type 27 |
|
|
MONDO:0869421 |
glycogen storage disease due to phosphoglycerate mutase deficiency |
GARD:9964 |
MONDO:equivalentTo |
Glycogen storage disease due to phosphoglycerate mutase deficiency |
|
|
MONDO:0869422 |
hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency |
GARD:9965 |
MONDO:equivalentTo |
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency |
|
|
MONDO:0869423 |
spinocerebellar ataxia type 4 |
GARD:9970 |
MONDO:equivalentTo |
Spinocerebellar ataxia type 4 |
|
|
MONDO:0869424 |
autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome |
GARD:9971 |
MONDO:equivalentTo |
Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome |
|
|
MONDO:0869425 |
spinocerebellar ataxia type 31 |
GARD:9975 |
MONDO:equivalentTo |
Spinocerebellar ataxia type 31 |
|
|
MONDO:0869426 |
spinocerebellar ataxia type 18 |
GARD:9976 |
MONDO:equivalentTo |
Spinocerebellar ataxia type 18 |
|
|
MONDO:0869427 |
camos syndrome |
GARD:9977 |
MONDO:equivalentTo |
CAMOS syndrome |
|
|
MONDO:0869428 |
craniosynostosis-dandy-walker malformation-hydrocephalus syndrome |
GARD:998 |
MONDO:equivalentTo |
Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome |
|
|
MONDO:0869429 |
x-linked spinocerebellar ataxia type 4 |
GARD:9980 |
MONDO:equivalentTo |
X-linked spinocerebellar ataxia type 4 |
|
|
MONDO:0869430 |
x-linked spinocerebellar ataxia type 3 |
GARD:9981 |
MONDO:equivalentTo |
X-linked spinocerebellar ataxia type 3 |
|
|
MONDO:0869431 |
x-linked intellectual disability, miles-carpenter type |
GARD:9984 |
MONDO:equivalentTo |
X-linked intellectual disability, Miles-Carpenter type |
|
|
MONDO:0869432 |
severe combined immunodeficiency due to dclre1c deficiency |
GARD:9987 |
MONDO:equivalentTo |
Severe combined immunodeficiency due to DCLRE1C deficiency |
|
|
MONDO:0869433 |
mandibuloacral dysplasia with type b lipodystrophy |
GARD:9989 |
MONDO:equivalentTo |
Mandibuloacral dysplasia with type B lipodystrophy |
|
|
MONDO:0869434 |
b4galt7-related spondylodysplastic ehlers-danlos syndrome |
GARD:9991 |
MONDO:equivalentTo |
B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome |
|
|
MONDO:0869435 |
riboflavin transporter deficiency |
GARD:9993 |
MONDO:equivalentTo |
Riboflavin transporter deficiency |
|
|
MONDO:0869436 |
clark-baraitser syndrome |
GARD:9994 |
MONDO:equivalentTo |
Clark-Baraitser syndrome |
|
|
MONDO:0869437 |
spinocerebellar ataxia type 26 |
GARD:9995 |
MONDO:equivalentTo |
Spinocerebellar ataxia type 26 |
|
|
MONDO:0869438 |
spinocerebellar ataxia type 25 |
GARD:9996 |
MONDO:equivalentTo |
Spinocerebellar ataxia type 25 |
|
|
MONDO:0869439 |
spinocerebellar ataxia type 20 |
GARD:9997 |
MONDO:equivalentTo |
Spinocerebellar ataxia type 20 |
|
|
MONDO:0869440 |
sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome |
GARD:9998 |
MONDO:equivalentTo |
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome |
|
|
MONDO:0869441 |
spinocerebellar ataxia type 21 |
GARD:9999 |
MONDO:equivalentTo |
Spinocerebellar ataxia type 21 |
|
|