loading...| 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 |
|
| database_cross_reference |
DOID:9245 GARD:0000804 MedDRA:10053870 ICD10:Q44.7 OMIMPS:118450 Orphanet:52 UMLS:C0085280 SCTID:31742004 MESH:D016738 ICD9:759.89 NCIT:C35139 |
|
| exactMatch |
http://identifiers.org/mesh/D016738 http://linkedlifedata.com/resource/umls/id/C0085280 http://purl.obolibrary.org/obo/DOID_9245 http://identifiers.org/snomedct/31742004 http://identifiers.org/meddra/10053870 |
|
| 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 |
|
| id |
MONDO:0007318 |
|
| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_malformation_syndrome |
|
| label |
Alagille syndrome |
|
| notation |
MONDO:0007318 |
|
| prefLabel |
Alagille syndrome |
|
| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
|
| 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_0015218 http://purl.obolibrary.org/obo/MONDO_0015509 http://purl.obolibrary.org/obo/MONDO_0015506 http://purl.obolibrary.org/obo/MONDO_0015620 http://purl.obolibrary.org/obo/MONDO_0015214 http://purl.obolibrary.org/obo/MONDO_0015945 http://purl.obolibrary.org/obo/MONDO_0043008 |