| ID |
LABEL |
A oboInOwl:hasDbXref |
>A oboInOwl:source SPLIT= |
|
|
A IAO:0000115 |
SC % |
| MONDO:0975919 |
ifih1-related hereditary spastic paraplegia |
Orphanet:689231 |
MONDO:equivalentTo |
IFIH1-related hereditary spastic paraplegia |
|
MONDO:8000034,MONDO:0000001,MONDO:0015088 |
disorder |
| MONDO:0975920 |
rnaseh2b-related hereditary spastic paraplegia |
Orphanet:689234 |
MONDO:equivalentTo |
RNASEH2B-related hereditary spastic paraplegia |
|
MONDO:0015090,MONDO:8000034,MONDO:0000001 |
disorder |
| MONDO:0978306 |
isolated duodenal duplication |
Orphanet:662473 |
MONDO:equivalentTo |
Isolated duodenal duplication |
|
MONDO:0971086,MONDO:8000031 |
subtype of a disorder |
| MONDO:0978307 |
isolated jejuno-ileal duplication |
Orphanet:662480 |
MONDO:equivalentTo |
Isolated jejuno-ileal duplication |
|
MONDO:8000031,MONDO:0971086 |
subtype of a disorder |
| MONDO:0978308 |
ebv-induced lymphoproliferative disease due to rasgrp1 deficiency |
Orphanet:664699 |
MONDO:equivalentTo |
EBV-induced lymphoproliferative disease due to RASGRP1 deficiency |
|
MONDO:8000034,MONDO:0000001 |
disorder |
| MONDO:0978309 |
ebv susceptibility with hemophagocytic lymphohistiocytosis as a major feature |
Orphanet:664734 |
MONDO:equivalentTo |
EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature |
|
MONDO:8000033 |
group of disorders |
| MONDO:0978310 |
adenomatoid tumour of the peritoneum |
Orphanet:675976 |
MONDO:equivalentTo |
Adenomatoid tumour of the peritoneum |
|
MONDO:8000034,MONDO:0000001 |
disorder |
| MONDO:0978311 |
well-differentiated papillary mesothelial tumour of the peritoneum |
Orphanet:676033 |
MONDO:equivalentTo |
Well-differentiated papillary mesothelial tumour of the peritoneum |
|
MONDO:8000034,MONDO:0000001 |
disorder |
| MONDO:0978312 |
isolated anal canal duplication |
Orphanet:684752 |
MONDO:equivalentTo |
Isolated anal canal duplication |
|
MONDO:8000034,MONDO:8000030 |
disorder |
| MONDO:0979252 |
congenital generalized lipodystrophy type 4 |
Orphanet:228429 |
MONDO:equivalentTo |
Congenital generalized lipodystrophy type 4 |
|
MONDO:0018883,MONDO:8000031 |
subtype of a disorder |
| MONDO:0979253 |
sodium-dependent multivitamin transporter deficiency |
Orphanet:521268 |
MONDO:equivalentTo |
Sodium-dependent multivitamin transporter deficiency |
|
MONDO:8000034,MONDO:0000001,MONDO:0017760,MONDO:0016133 |
disorder |
| MONDO:0979254 |
squamous cell carcinoma of head and neck |
Orphanet:67037 |
MONDO:equivalentTo |
Squamous cell carcinoma of head and neck |
|
MONDO:0020035,MONDO:8000033 |
group of disorders |
| MONDO:0979255 |
marbach-schaaf neurodevelopmental syndrome |
Orphanet:692173 |
MONDO:equivalentTo |
Marbach-Schaaf neurodevelopmental syndrome |
|
MONDO:8000034,MONDO:0000001,MONDO:0035862 |
disorder |
| MONDO:0979256 |
champ1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome |
Orphanet:692193 |
MONDO:equivalentTo |
CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome |
A rare malformation syndrome characterized by global developmental delay with intellectual disability, speech delay, hypotonia, neurobehavioral symptoms including autism spectrum disorder, repetitive behaviors, attention deficit hyperactivity disorder, and sleep abnormalities. Dysmorphic facial features may include microcephaly (or sometimes macrocephaly), a round face, a flat head with a shortened forehead, hypertelorism, upslanted palpebral fissures, bulbous nose, wide nasal bridge, short philtrum, tented upper lip, and dental abnormalities (most commonly retained primary teeth). Additional clinical features can include recurrent infections, cyclic vomiting syndrome, seizures, and nonspecific congenital malformations. |
MONDO:8000034,MONDO:0035863,MONDO:8000032,MONDO:0015159 |
disorder |
| MONDO:0979257 |
isolated anogenital granulomatosis |
Orphanet:692256 |
MONDO:equivalentTo |
Isolated anogenital granulomatosis |
|
MONDO:0000001,MONDO:8000034,MONDO:0015106,MONDO:0021154,MONDO:0015859 |
disorder |
| MONDO:0979258 |
cerebral proliferative angiopathy |
Orphanet:692271 |
MONDO:equivalentTo |
Cerebral proliferative angiopathy |
|
MONDO:0020011,MONDO:0000001,MONDO:8000034,MONDO:0015658,MONDO:0016234 |
disorder |
| MONDO:0979259 |
triglyceride deposit cardiomyovasculopathy |
Orphanet:692305 |
MONDO:equivalentTo |
Triglyceride deposit cardiomyovasculopathy |
A rare cardiovascular disorder characterized by defective intracellular lipolysis of long-chain triglycerides (LCTG), resulting in heart failure and diffuse atherosclerosis. |
MONDO:0015611,MONDO:0016343,MONDO:0000001,MONDO:8000034 |
disorder |
| MONDO:0979260 |
atp6ap1-cdg |
Orphanet:692790 |
MONDO:equivalentTo |
ATP6AP1-CDG |
|
MONDO:0017752,MONDO:0018293,MONDO:0000001,MONDO:0018284,MONDO:0018288,MONDO:8000034 |
disorder |
| MONDO:0979261 |
rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome |
Orphanet:692812 |
MONDO:equivalentTo |
RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome |
|
MONDO:0015118,MONDO:8000034,MONDO:0000001,MONDO:0015356,MONDO:0015510 |
disorder |
| MONDO:0979262 |
facial dysmorphism-intellectual disability-rhombencephalosynapsis syndrome |
Orphanet:693549 |
MONDO:equivalentTo |
Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome |
|
MONDO:0035863,MONDO:0015159,MONDO:0017118,MONDO:8000032,MONDO:8000034 |
disorder |
| MONDO:0979263 |
agammaglobulinemia-skin involvement-failure to thrive syndrome |
Orphanet:693627 |
MONDO:equivalentTo |
Agammaglobulinemia-skin involvement-failure to thrive syndrome |
|
MONDO:0000001,MONDO:0019305,MONDO:0016463,MONDO:8000034 |
disorder |
| MONDO:0979264 |
agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome |
Orphanet:693647 |
MONDO:equivalentTo |
Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome |
|
MONDO:0018032,MONDO:0016463,MONDO:0000001,MONDO:0026989,MONDO:8000034 |
disorder |
| MONDO:0979265 |
activated pi3k-delta syndrome 1 |
Orphanet:693661 |
MONDO:equivalentTo |
Activated PI3K-delta syndrome 1 |
|
MONDO:0000001,MONDO:8000034,MONDO:0018338 |
disorder |
| MONDO:0979266 |
activated pi3k-delta syndrome 2 |
Orphanet:693681 |
MONDO:equivalentTo |
Activated PI3K-delta syndrome 2 |
|
MONDO:0018338,MONDO:0000001,MONDO:8000034 |
disorder |
| MONDO:0979267 |
neonatal-infantile onset epilepsy syndrome |
Orphanet:693802 |
MONDO:equivalentTo |
Neonatal-infantile onset epilepsy syndrome |
|
MONDO:8000033,MONDO:0015650 |
group of disorders |
| MONDO:0979268 |
visceral arteriovenous malformation |
Orphanet:693855 |
MONDO:equivalentTo |
Visceral arteriovenous malformation |
|
MONDO:8000033,MONDO:0016234 |
group of disorders |
| MONDO:0979269 |
rasa1-related capillary malformation-arteriovenous malformation |
Orphanet:693907 |
MONDO:equivalentTo |
RASA1-related capillary malformation-arteriovenous malformation |
|
MONDO:8000032,MONDO:8000034,MONDO:0012016 |
disorder |
| MONDO:0979270 |
ephb4-related capillary malformation-arteriovenous malformation |
Orphanet:693912 |
MONDO:equivalentTo |
EPHB4-related capillary malformation-arteriovenous malformation |
|
MONDO:8000032,MONDO:0012016,MONDO:8000034 |
disorder |
| MONDO:0979271 |
congenital intrahepatic arterioportal fistula |
Orphanet:694228 |
MONDO:equivalentTo |
Congenital intrahepatic arterioportal fistula |
|
MONDO:0015113,MONDO:0020296,MONDO:8000032,MONDO:8000034 |
disorder |
| MONDO:0979272 |
zmynd11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome |
Orphanet:694304 |
MONDO:equivalentTo |
ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome |
|
MONDO:0015159,MONDO:0000001,MONDO:8000034,MONDO:0035863 |
disorder |
| MONDO:0979273 |
adar-related hereditary spastic paraplegia |
Orphanet:694356 |
MONDO:equivalentTo |
ADAR-related hereditary spastic paraplegia |
|
MONDO:0015088,MONDO:0000001,MONDO:8000034 |
disorder |
| MONDO:0979274 |
childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome |
Orphanet:694922 |
MONDO:equivalentTo |
Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome |
|
MONDO:0020046,MONDO:0015653,MONDO:8000034,MONDO:0016136,MONDO:0000001 |
disorder |
| MONDO:0979275 |
intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency |
Orphanet:694937 |
MONDO:equivalentTo |
Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency |
|
MONDO:0017122,MONDO:8000034,MONDO:8000032,MONDO:0016055,MONDO:0015159,MONDO:0016135,MONDO:0035863 |
disorder |
| MONDO:0979276 |
alazami-yuan syndrome |
Orphanet:694946 |
MONDO:equivalentTo |
Alazami-Yuan syndrome |
|
MONDO:8000032,MONDO:0015159,MONDO:8000034,MONDO:0026187,MONDO:0015329,MONDO:0035863,MONDO:0019280 |
disorder |
| MONDO:0979277 |
intellectual disability-lymphoid hypertrophy-macrocephaly syndrome |
Orphanet:694956 |
MONDO:equivalentTo |
Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome |
|
MONDO:0035863,MONDO:0015501,MONDO:8000032,MONDO:0015159,MONDO:8000034 |
disorder |
| MONDO:0979278 |
inflammatory breast cancer |
Orphanet:694963 |
MONDO:equivalentTo |
Inflammatory breast cancer |
|
MONDO:8000034,MONDO:0015870,MONDO:0000001 |
disorder |
| MONDO:0979279 |
urachal carcinoma |
Orphanet:695020 |
MONDO:equivalentTo |
Urachal carcinoma |
|
MONDO:0020032,MONDO:8000034,MONDO:0000001 |
disorder |
| MONDO:0979280 |
pure squamous carcinoma of the urothelial tract |
Orphanet:695023 |
MONDO:equivalentTo |
Pure squamous carcinoma of the urothelial tract |
|
MONDO:0020032,MONDO:8000034,MONDO:0000001 |
disorder |
| MONDO:0979281 |
giant omphalocele |
Orphanet:695032 |
MONDO:equivalentTo |
Giant omphalocele |
|
MONDO:0019015,MONDO:8000031 |
subtype of a disorder |
| MONDO:0979282 |
small omphalocele |
Orphanet:695038 |
MONDO:equivalentTo |
Small omphalocele |
|
MONDO:0019015,MONDO:8000031 |
subtype of a disorder |
| MONDO:0979283 |
man2b2-cdg |
Orphanet:695110 |
MONDO:equivalentTo |
MAN2B2-CDG |
|
MONDO:0035862,MONDO:0017740,MONDO:8000034,MONDO:0000001 |
disorder |
| MONDO:0979284 |
acinar cystic transformation of the pancreas |
Orphanet:695131 |
MONDO:equivalentTo |
Acinar cystic transformation of the pancreas |
|
MONDO:0000001,MONDO:0015112,MONDO:8000034 |
disorder |
| MONDO:0979285 |
infant-type hemispheric glioma |
Orphanet:695136 |
MONDO:equivalentTo |
Infant-type hemispheric glioma |
|
MONDO:8000034,MONDO:0000001,MONDO:0016680 |
disorder |
| MONDO:0979286 |
sickle cell-beta zero-thalassemia |
Orphanet:695140 |
MONDO:equivalentTo |
Sickle cell-beta zero-thalassemia |
|
MONDO:0016668,MONDO:8000031 |
subtype of a disorder |
| MONDO:0979287 |
sickle cell-beta plus-thalassemia |
Orphanet:695147 |
MONDO:equivalentTo |
Sickle cell-beta plus-thalassemia |
|
MONDO:8000031,MONDO:0016668 |
subtype of a disorder |
| MONDO:0979288 |
combined immunodeficiency due to dimerization defective ikaros mutation |
Orphanet:695172 |
MONDO:equivalentTo |
Combined immunodeficiency due to dimerization defective IKAROS mutation |
|
MONDO:0000001,MONDO:8000034 |
disorder |
| MONDO:0979289 |
late-onset combined immunodeficiency due to icos deficiency |
Orphanet:695183 |
MONDO:equivalentTo |
Late-onset combined immunodeficiency due to ICOS deficiency |
|
MONDO:0000001,MONDO:8000034 |
disorder |
| MONDO:0979290 |
late-onset combined immunodeficiency due to icosl deficiency |
Orphanet:695191 |
MONDO:equivalentTo |
Late-onset combined immunodeficiency due to ICOSL deficiency |
|
MONDO:0000001,MONDO:8000034 |
disorder |
| MONDO:0979291 |
3q26q28 deletion syndrome |
Orphanet:695611 |
MONDO:equivalentTo |
3q26q28 deletion syndrome |
|
MONDO:0035863,MONDO:8000034,MONDO:0015159,MONDO:8000032,MONDO:0016902 |
disorder |
| MONDO:0979292 |
primary vitreoretinal large b-cell lymphoma |
Orphanet:695631 |
MONDO:equivalentTo |
Primary vitreoretinal large B-cell lymphoma |
|
MONDO:0015121,MONDO:0000001,MONDO:0018905,MONDO:8000034 |
disorder |
| MONDO:0979293 |
edem3-cdg |
Orphanet:695783 |
MONDO:equivalentTo |
EDEM3-CDG |
|
MONDO:0000001,MONDO:0035862,MONDO:0017740,MONDO:8000034 |
disorder |
| MONDO:0979294 |
immunodeficiency-systemic inflammation-lymphoma predisposition syndrome |
Orphanet:695807 |
MONDO:equivalentTo |
Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome |
|
MONDO:8000034,MONDO:0017956,MONDO:0000001,MONDO:0033967,MONDO:0017369 |
disorder |
| MONDO:0979295 |
plin4-related distal myopathy |
Orphanet:696063 |
MONDO:equivalentTo |
PLIN4-related distal myopathy |
|
MONDO:0000001,MONDO:8000034,MONDO:0016108 |
disorder |
| MONDO:0979296 |
central giant cell granuloma |
Orphanet:696078 |
MONDO:equivalentTo |
Central Giant Cell Granuloma |
|
MONDO:0019060,MONDO:8000034,MONDO:0000001,MONDO:0017371 |
disorder |
| MONDO:0979297 |
encapsulating peritoneal sclerosis |
Orphanet:696175 |
MONDO:equivalentTo |
Encapsulating peritoneal sclerosis |
|
MONDO:0015621,MONDO:8000034,MONDO:0019997,MONDO:0000001 |
disorder |
| MONDO:0979298 |
congenital generalized lipodystrophy type 1 |
Orphanet:696189 |
MONDO:equivalentTo |
Congenital generalized lipodystrophy type 1 |
|
MONDO:8000031,MONDO:0018883 |
subtype of a disorder |
| MONDO:0979299 |
congenital generalized lipodystrophy type 3 |
Orphanet:696206 |
MONDO:equivalentTo |
Congenital generalized lipodystrophy type 3 |
|
MONDO:0018883,MONDO:8000031 |
subtype of a disorder |
| MONDO:0979300 |
pparg-associated congenital generalized lipodystrophy |
Orphanet:696242 |
MONDO:equivalentTo |
PPARG-associated congenital generalized lipodystrophy |
|
MONDO:0018883,MONDO:8000031 |
subtype of a disorder |
| MONDO:0979301 |
congenital generalized lipodystrophy type 2 |
Orphanet:696289 |
MONDO:equivalentTo |
Congenital generalized lipodystrophy type 2 |
|
MONDO:0018883,MONDO:8000031 |
subtype of a disorder |
| MONDO:0979302 |
female adnexal tumor of probable wolffian origin |
Orphanet:696830 |
MONDO:equivalentTo |
Female adnexal tumor of probable Wolffian origin |
|
MONDO:8000034,MONDO:0000001,MONDO:0015861 |
disorder |
| MONDO:0979303 |
common variable immunodeficiency and related disorders |
Orphanet:696851 |
MONDO:equivalentTo |
Common variable immunodeficiency and related disorders |
|
MONDO:8000033,MONDO:0015132 |
group of disorders |
| MONDO:0979304 |
congenital megaprepuce |
Orphanet:696897 |
MONDO:equivalentTo |
Congenital megaprepuce |
|
MONDO:8000034,MONDO:8000030,MONDO:0015933 |
disorder |
| MONDO:0979305 |
talaromycosis |
Orphanet:697053 |
MONDO:equivalentTo |
Talaromycosis |
|
MONDO:8000034,MONDO:0015578,MONDO:0000001 |
disorder |
| MONDO:0979306 |
global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome |
Orphanet:697067 |
MONDO:equivalentTo |
Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome |
|
MONDO:8000034,MONDO:0035863,MONDO:8000032,MONDO:0015159 |
disorder |
| MONDO:0979307 |
emergomycosis |
Orphanet:697091 |
MONDO:equivalentTo |
Emergomycosis |
|
MONDO:8000034,MONDO:0000001,MONDO:0015578 |
disorder |
| MONDO:0979308 |
cryptosporidiosis |
Orphanet:697096 |
MONDO:equivalentTo |
Cryptosporidiosis |
|
MONDO:0015577,MONDO:0000001,MONDO:8000034 |
disorder |
| MONDO:0979309 |
fontaine progeroid syndrome |
Orphanet:697101 |
MONDO:equivalentTo |
Fontaine progeroid syndrome |
|
MONDO:0015332,MONDO:8000034,MONDO:0000001,MONDO:0019303 |
disorder |
| MONDO:0979310 |
lymphoepithelial cyst of the pancreas |
Orphanet:697132 |
MONDO:equivalentTo |
Lymphoepithelial cyst of the pancreas |
|
MONDO:0000001,MONDO:0015112,MONDO:8000034 |
disorder |
| MONDO:0979311 |
congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome |
Orphanet:697356 |
MONDO:equivalentTo |
Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome |
|
MONDO:8000032,MONDO:0019285,MONDO:0035862,MONDO:8000034 |
disorder |
| MONDO:0979312 |
combined immunodeficiency-cancer predisposing syndrome due to aiolos deficiency |
Orphanet:697385 |
MONDO:equivalentTo |
Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency |
|
MONDO:0000001,MONDO:8000034 |
disorder |
| MONDO:0979313 |
combined immunodeficiency due to helios deficiency |
Orphanet:697389 |
MONDO:equivalentTo |
Combined immunodeficiency due to HELIOS deficiency |
|
MONDO:0000001,MONDO:8000034 |
disorder |
| MONDO:0979314 |
combined immunodeficiency due to c-rel deficiency |
Orphanet:697394 |
MONDO:equivalentTo |
Combined immunodeficiency due to c-REL deficiency |
|
MONDO:8000034,MONDO:0000001 |
disorder |
| MONDO:0979315 |
combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency |
Orphanet:697403 |
MONDO:equivalentTo |
Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency |
|
MONDO:8000034,MONDO:0000001 |
disorder |
| MONDO:0979316 |
early-onset combined immunodeficiency with low ig due to dominant negative ikaros mutation |
Orphanet:697414 |
MONDO:equivalentTo |
Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation |
|
MONDO:0000001,MONDO:8000034 |
disorder |
| MONDO:0979317 |
st3gal3-cdg |
Orphanet:697734 |
MONDO:equivalentTo |
ST3GAL3-CDG |
|
MONDO:8000034,MONDO:0017740,MONDO:0000001 |
disorder |
| MONDO:0979318 |
intellectual disability-nasal speech-craniofacial dysmorphism syndrome |
Orphanet:697760 |
MONDO:equivalentTo |
Intellectual disability-nasal speech-craniofacial dysmorphism syndrome |
|
MONDO:0015159,MONDO:8000032,MONDO:0035863,MONDO:8000034 |
disorder |
| MONDO:0979319 |
congenital peritoneal encapsulation |
Orphanet:697986 |
MONDO:equivalentTo |
Congenital peritoneal encapsulation |
|
MONDO:0015215,MONDO:8000032,MONDO:8000034 |
disorder |
| MONDO:0979320 |
fibromuscular dysplasia |
Orphanet:698012 |
MONDO:equivalentTo |
Fibromuscular dysplasia |
|
MONDO:8000034,MONDO:0024471,MONDO:0000001 |
disorder |
| MONDO:0979321 |
global developmental delay-intellectual disability-facial dysmorphism-pseudo-pelger-huët anomaly syndrome |
Orphanet:698085 |
MONDO:equivalentTo |
Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome |
|
MONDO:0035863,MONDO:8000034,MONDO:0015159,MONDO:8000032 |
disorder |
| MONDO:0979322 |
ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome |
Orphanet:698090 |
MONDO:equivalentTo |
Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome |
|
MONDO:8000034,MONDO:8000032,MONDO:0015159,MONDO:0035863 |
disorder |
| MONDO:0979323 |
carotid web |
Orphanet:698260 |
MONDO:equivalentTo |
Carotid web |
|
MONDO:0018723,MONDO:0000001,MONDO:8000034 |
disorder |
| MONDO:0979324 |
platelet-activating anti-platelet factor 4 disorder |
Orphanet:698914 |
MONDO:equivalentTo |
Platelet-activating anti-platelet factor 4 disorder |
|
MONDO:8000033,MONDO:0016634,MONDO:0015939 |
group of disorders |
| MONDO:0979325 |
annular erythema of infancy |
Orphanet:699057 |
MONDO:equivalentTo |
Annular erythema of infancy |
|
MONDO:0021154,MONDO:8000034,MONDO:0000001 |
disorder |
| MONDO:0979326 |
fontan-associated liver disease |
Orphanet:699068 |
MONDO:equivalentTo |
Fontan-associated liver disease |
|
MONDO:0000001,MONDO:0015114,MONDO:8000034,MONDO:0015113 |
disorder |
| MONDO:0979327 |
combined immunodeficiency with low ig due to bcl10 deficiency |
Orphanet:699578 |
MONDO:equivalentTo |
Combined immunodeficiency with low Ig due to BCL10 deficiency |
|
MONDO:8000034,MONDO:0000001 |
disorder |
| MONDO:0979328 |
immune dysregulation with immunodeficiency due to aiolos haploinsufficiency |
Orphanet:699590 |
MONDO:equivalentTo |
Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency |
|
MONDO:0000001,MONDO:0015709,MONDO:8000034 |
disorder |
| MONDO:0979329 |
ichad syndrome |
Orphanet:699599 |
MONDO:equivalentTo |
ICHAD syndrome |
|
MONDO:0000001,MONDO:8000034,MONDO:0018035 |
disorder |
| MONDO:0979330 |
nemo deleted exon 5 autoinflammatory syndrome |
Orphanet:699605 |
MONDO:equivalentTo |
NEMO deleted exon 5 autoinflammatory syndrome |
|
MONDO:0700264,MONDO:8000034,MONDO:0000001,MONDO:0957408 |
disorder |
| MONDO:0979331 |
severe mendelian susceptibility to mycobacterial diseases due to complete irf1 deficiency |
Orphanet:699615 |
MONDO:equivalentTo |
Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency |
|
MONDO:0017897,MONDO:8000034,MONDO:0000001 |
disorder |
| MONDO:0979332 |
severe mendelian susceptibility to mycobacterial diseases due to complete ifng deficiency |
Orphanet:699618 |
MONDO:equivalentTo |
Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency |
|
MONDO:0017897,MONDO:8000034,MONDO:0000001 |
disorder |
| MONDO:0979333 |
variable age-onset epilepsy syndrome |
Orphanet:699645 |
MONDO:equivalentTo |
Variable age-onset epilepsy syndrome |
|
MONDO:8000033,MONDO:0015650 |
group of disorders |
| MONDO:0979334 |
necrotizing cellulitis |
Orphanet:699678 |
MONDO:equivalentTo |
Necrotizing cellulitis |
|
MONDO:8000031,MONDO:0018602 |
subtype of a disorder |
| MONDO:0979335 |
fibro-adipose vascular anomaly |
Orphanet:699683 |
MONDO:equivalentTo |
Fibro-adipose vascular anomaly |
|
MONDO:0016235,MONDO:8000034,MONDO:0000001 |
disorder |
| MONDO:0979336 |
necrotizing fasciitis |
Orphanet:699697 |
MONDO:equivalentTo |
Necrotizing fasciitis |
|
MONDO:8000031,MONDO:0018602 |
subtype of a disorder |
| MONDO:0979337 |
necrotizing myositis |
Orphanet:699702 |
MONDO:equivalentTo |
Necrotizing myositis |
|
MONDO:8000031,MONDO:0018602 |
subtype of a disorder |
| MONDO:0979338 |
cln14 disease |
Orphanet:699708 |
MONDO:equivalentTo |
CLN14 disease |
A rare neuronal ceroid lipofuscinosis characterized by infantile-onset (9-11 months) neurocognitive regression, microcephaly with brain atrophy, myoclonus, vision loss and premature death. |
MONDO:0016295,MONDO:8000034,MONDO:0000001 |
disorder |
| MONDO:0979339 |
infantile cln1 disease |
Orphanet:699718 |
MONDO:equivalentTo |
Infantile CLN1 disease |
|
MONDO:0009744,MONDO:8000031 |
subtype of a disorder |
| MONDO:0979340 |
late infantile cln1 disease |
Orphanet:699734 |
MONDO:equivalentTo |
Late infantile CLN1 disease |
|
MONDO:8000031,MONDO:0009744 |
subtype of a disorder |
| MONDO:0979341 |
juvenile cln1 disease |
Orphanet:699739 |
MONDO:equivalentTo |
Juvenile CLN1 disease |
|
MONDO:0009744,MONDO:8000031 |
subtype of a disorder |
| MONDO:0979342 |
adult cln1 disease |
Orphanet:699745 |
MONDO:equivalentTo |
Adult CLN1 disease |
|
MONDO:8000031,MONDO:0009744 |
subtype of a disorder |
| MONDO:0979343 |
infantile cln2 disease |
Orphanet:699751 |
MONDO:equivalentTo |
Infantile CLN2 disease |
|
MONDO:0008769,MONDO:8000031 |
subtype of a disorder |
| MONDO:0979344 |
late infantile cln2 disease |
Orphanet:699761 |
MONDO:equivalentTo |
Late infantile CLN2 disease |
|
MONDO:0008769,MONDO:8000031 |
subtype of a disorder |
| MONDO:0979345 |
juvenile cln2 disease |
Orphanet:699769 |
MONDO:equivalentTo |
Juvenile CLN2 disease |
|
MONDO:0008769,MONDO:8000031 |
subtype of a disorder |
| MONDO:0979346 |
juvenile cln3 disease |
Orphanet:699780 |
MONDO:equivalentTo |
Juvenile CLN3 disease |
|
MONDO:0008767,MONDO:8000031 |
subtype of a disorder |
| MONDO:0979347 |
protracted juvenile cln3 disease |
Orphanet:699796 |
MONDO:equivalentTo |
Protracted juvenile CLN3 disease |
|
MONDO:0008767,MONDO:8000031 |
subtype of a disorder |
| MONDO:0979348 |
late infantile cln5 disease |
Orphanet:699802 |
MONDO:equivalentTo |
Late infantile CLN5 disease |
|
MONDO:8000031,MONDO:0009745 |
subtype of a disorder |
| MONDO:0979349 |
juvenile cln5 disease |
Orphanet:699807 |
MONDO:equivalentTo |
Juvenile CLN5 disease |
|
MONDO:8000031,MONDO:0009745 |
subtype of a disorder |
| MONDO:0979350 |
adult cln5 disease |
Orphanet:699812 |
MONDO:equivalentTo |
Adult CLN5 disease |
|
MONDO:8000031,MONDO:0009745 |
subtype of a disorder |
| MONDO:0979351 |
cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome |
Orphanet:699835 |
MONDO:equivalentTo |
Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome |
|
MONDO:8000032,MONDO:0035863,MONDO:8000034,MONDO:0015159 |
disorder |
| MONDO:0979352 |
microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome |
Orphanet:699844 |
MONDO:equivalentTo |
Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome |
|
MONDO:0015159,MONDO:0035863,MONDO:8000034,MONDO:8000032,MONDO:0017119 |
disorder |
| MONDO:0979353 |
2p25.3 microduplication syndrome |
Orphanet:699850 |
MONDO:equivalentTo |
2p25.3 microduplication syndrome |
|
MONDO:8000034,MONDO:8000032,MONDO:0016939,MONDO:0035862 |
disorder |
| MONDO:0979354 |
sickle cell disease due to hemoglobin s and a non-s/non-c hemoglobin variant |
Orphanet:700085 |
MONDO:equivalentTo |
Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant |
|
MONDO:0000001,MONDO:0017146,MONDO:8000034 |
disorder |
| MONDO:0979355 |
homozygous hemoglobin o arab disease |
Orphanet:700111 |
MONDO:equivalentTo |
Homozygous hemoglobin O Arab disease |
|
MONDO:0034039,MONDO:8000034,MONDO:0000001,MONDO:0019050 |
disorder |
| MONDO:0979356 |
autosomal recessive hereditary chronic pancreatitis |
Orphanet:700124 |
MONDO:equivalentTo |
Autosomal recessive hereditary chronic pancreatitis |
|
MONDO:0000001,MONDO:8000034,MONDO:0015618,MONDO:0015112 |
disorder |
| MONDO:0979357 |
idiopathic chronic pancreatitis |
Orphanet:700133 |
MONDO:equivalentTo |
Idiopathic chronic pancreatitis |
|
MONDO:0015112,MONDO:8000034,MONDO:0000001 |
disorder |
| MONDO:0979358 |
x-linked distal myopathy |
Orphanet:700143 |
MONDO:equivalentTo |
X-linked distal myopathy |
|
MONDO:0018949,MONDO:8000033 |
group of disorders |
| MONDO:0979359 |
tardbp-related predominantly upper-limb distal myopathy |
Orphanet:700154 |
MONDO:equivalentTo |
TARDBP-related predominantly upper-limb distal myopathy |
|
MONDO:8000034,MONDO:0000001,MONDO:0016108 |
disorder |
| MONDO:0979360 |
adnp-related blepharophimosis-intellectual disability syndrome |
Orphanet:700160 |
MONDO:equivalentTo |
ADNP-related blepharophimosis-intellectual disability syndrome |
|
MONDO:8000034,MONDO:0000001,MONDO:0017393 |
disorder |
| MONDO:0979361 |
asymetric thumb-handgrip weakness-distal myopathy |
Orphanet:700170 |
MONDO:equivalentTo |
Asymetric thumb-handgrip weakness-distal myopathy |
|
MONDO:0016108,MONDO:0018943,MONDO:0000001,MONDO:8000034 |
disorder |
| MONDO:0979362 |
calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy |
Orphanet:700188 |
MONDO:equivalentTo |
Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy |
|
MONDO:8000034,MONDO:0000001,MONDO:0016108 |
disorder |
| MONDO:0979363 |
combined immunodeficiency due to ikbkb gain-of-function mutation |
Orphanet:700205 |
MONDO:equivalentTo |
Combined immunodeficiency due to IKBKB gain-of-function mutation |
|
MONDO:8000034,MONDO:0000001 |
disorder |
| MONDO:0979364 |
nkap-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome |
Orphanet:700325 |
MONDO:equivalentTo |
NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome |
|
MONDO:0015159,MONDO:0035863,MONDO:8000034,MONDO:8000032 |
disorder |
| MONDO:0979365 |
hypotonia-speech impairment-severe cognitive delay syndrome due to unc80 deficiency |
Orphanet:700333 |
MONDO:equivalentTo |
Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency |
|
MONDO:0014176,MONDO:8000031 |
subtype of a disorder |
| MONDO:0979366 |
hypotonia-speech impairment-severe cognitive delay syndrome due to nalcn deficiency |
Orphanet:700336 |
MONDO:equivalentTo |
Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency |
|
MONDO:0014176,MONDO:8000031 |
subtype of a disorder |
| MONDO:0979367 |
late infantile cln6 disease |
Orphanet:700467 |
MONDO:equivalentTo |
Late infantile CLN6 disease |
|
MONDO:8000031,MONDO:0011144 |
subtype of a disorder |
| MONDO:0979368 |
juvenile cln6 disease |
Orphanet:700472 |
MONDO:equivalentTo |
Juvenile CLN6 disease |
|
MONDO:8000031,MONDO:0011144 |
subtype of a disorder |
| MONDO:0979369 |
adult cln6 disease |
Orphanet:700477 |
MONDO:equivalentTo |
Adult CLN6 disease |
|
MONDO:8000031,MONDO:0011144 |
subtype of a disorder |
| MONDO:0979370 |
late infantile cln8 disease |
Orphanet:700484 |
MONDO:equivalentTo |
Late infantile CLN8 disease |
|
MONDO:8000031,MONDO:0010830 |
subtype of a disorder |
| MONDO:0979371 |
congenital cln10 disease |
Orphanet:700487 |
MONDO:equivalentTo |
Congenital CLN10 disease |
|
MONDO:0012414,MONDO:8000031 |
subtype of a disorder |
| MONDO:0979372 |
late infantile cln10 disease |
Orphanet:700492 |
MONDO:equivalentTo |
Late infantile CLN10 disease |
|
MONDO:0012414,MONDO:8000031 |
subtype of a disorder |
| MONDO:0979373 |
juvenile cln10 disease |
Orphanet:700497 |
MONDO:equivalentTo |
Juvenile CLN10 disease |
|
MONDO:0012414,MONDO:8000031 |
subtype of a disorder |
| MONDO:0979374 |
distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy |
Orphanet:700508 |
MONDO:equivalentTo |
Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy |
|
MONDO:8000034,MONDO:0019601,MONDO:0000001 |
disorder |