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Migrate gard

GARD

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Migratable terms

mondo_id mondo_label xref xref_source original_label definition parents
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