loading...| Preferred Name |
Alagille syndrome |
| Synonyms |
paucity of interlobular bile ducts Hepatofacioneurocardiovertebral syndrome hepatic ductular hypoplasia Cardiovertebral syndrome Watson-Miller syndrome Watson Alagille syndrome Alagille syndrome Arteriohepatic dysplasia syndromic bile duct paucity Alagille-Watson syndrome |
| 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 |
| closeMatch | |
| database_cross_reference |
MedDRA:10053870 NCIT:C35139 MESH:D016738 Orphanet:52 ICD9:759.89 SCTID:31742004 DOID:9245 GARD:0000804 UMLS:C0085280 OMIMPS:118450 |
| 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. |
| exactMatch |
http://purl.obolibrary.org/obo/NCIT_C35139 http://identifiers.org/snomedct/31742004 http://linkedlifedata.com/resource/umls/id/C0085280 http://identifiers.org/mesh/D016738 http://purl.obolibrary.org/obo/DOID_9245 |
| has_exact_synonym |
Alagille syndrome Arteriohepatic dysplasia syndromic bile duct paucity Alagille-Watson syndrome |
| has_related_synonym |
paucity of interlobular bile ducts Hepatofacioneurocardiovertebral syndrome hepatic ductular hypoplasia Cardiovertebral syndrome Watson-Miller syndrome Watson Alagille syndrome |
| id |
MONDO:0007318 |
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome |
| label |
Alagille syndrome |
| notation |
MONDO:0007318 |
| prefLabel |
Alagille syndrome |
| treeView |
http://purl.obolibrary.org/obo/MONDO_0015509 http://purl.obolibrary.org/obo/MONDO_0002254 http://purl.obolibrary.org/obo/MONDO_0015214 http://purl.obolibrary.org/obo/MONDO_0015161 |
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015509 http://purl.obolibrary.org/obo/MONDO_0002254 http://purl.obolibrary.org/obo/MONDO_0015214 http://purl.obolibrary.org/obo/MONDO_0015161 |