loading...| Preferred Name |
Alagille Syndrome [Disease/Finding] |
|
| Synonyms |
Alagille Watson Syndrome Cardiovertebral Syndrome Hepatic Ductular Hypoplasia, Syndromatic Hepatofacioneurocardiovertebral Syndrome Arteriohepatic Dysplasia Dysplasia, Arteriohepatic Watson Miller Syndrome Watson-Miller syndrome Alagille Syndrome Watson Alagille Syndrome Cholestasis with Peripheral Pulmonary Stenosis Arteriohepatic Dysplasia (AHD) Alagille-Watson Syndrome Alagille's Syndrome |
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| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000003467 |
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| altLabel |
Alagille Watson Syndrome Cardiovertebral Syndrome Hepatic Ductular Hypoplasia, Syndromatic Hepatofacioneurocardiovertebral Syndrome Arteriohepatic Dysplasia Dysplasia, Arteriohepatic Watson Miller Syndrome Watson-Miller syndrome Alagille Syndrome Watson Alagille Syndrome Cholestasis with Peripheral Pulmonary Stenosis Arteriohepatic Dysplasia (AHD) Alagille-Watson Syndrome Alagille's Syndrome |
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| cui |
C0085280 |
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| MESH DEFINITION |
A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2). |
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| MESH DUI |
D016738 |
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| MeSH name |
Alagille Syndrome |
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| MESH UI |
M0025493 |
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| NDFRT kind |
DISEASE_KIND |
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| notation |
N0000003467 |
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| NUI |
N0000003467 |
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| prefLabel |
Alagille Syndrome [Disease/Finding] |
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| SNOMED CID |
31742004 |
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| tui |
T019 |
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| subClassOf |