Preferred Name |
Alagille syndrome |
|
Synonyms |
Cardiovertebral syndrome Watson-Miller syndrome Hepatofacioneurocardiovertebral syndrome Watson Alagille syndrome paucity of interlobular bile ducts hepatic ductular hypoplasia Alagille syndrome syndromic bile duct paucity Alagille-Watson syndrome Arteriohepatic dysplasia |
|
Definitions |
Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys. |
|
ID |
http://purl.obolibrary.org/obo/MONDO_0007318 |
|
altLabel |
Cardiovertebral syndrome Watson-Miller syndrome Hepatofacioneurocardiovertebral syndrome Watson Alagille syndrome paucity of interlobular bile ducts hepatic ductular hypoplasia Alagille syndrome syndromic bile duct paucity Alagille-Watson syndrome Arteriohepatic dysplasia |
|
definition |
Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys. |
|
has_exact_synonym |
Alagille syndrome syndromic bile duct paucity Alagille-Watson syndrome Arteriohepatic dysplasia |
|
has_related_synonym |
Cardiovertebral syndrome Watson-Miller syndrome Hepatofacioneurocardiovertebral syndrome Watson Alagille syndrome paucity of interlobular bile ducts hepatic ductular hypoplasia |
|
label |
Alagille syndrome |
|
prefixIRI |
MONDO:0007318 |
|
prefLabel |
Alagille syndrome |
|
textual definition |
Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys. |
|
subClassOf |
http://purl.obolibrary.org/obo/MONDO_0005267 http://purl.obolibrary.org/obo/MONDO_0015509 http://purl.obolibrary.org/obo/MONDO_0015161 http://purl.obolibrary.org/obo/MONDO_0015214 |