loading...| Preferred Name |
Alagille syndrome |
|
| Synonyms |
Watson-Miller syndrome paucity of interlobular bile ducts Hepatofacioneurocardiovertebral syndrome Cardiovertebral syndrome hepatic ductular hypoplasia Watson Alagille syndrome syndromic bile duct paucity Alagille syndrome 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 |
|
| closeMatch | ||
| database_cross_reference |
ICD9:759.89 NCIT:C35139 MESH:D016738 SCTID:31742004 Orphanet:52 NANDO:2200931 OMIMPS:118450 MedDRA:10053870 UMLS:C0085280 NANDO:1200919 NANDO:1200918 DOID:9245 GARD:804 NORD:748 |
|
| 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://identifiers.org/mesh/D016738 http://purl.obolibrary.org/obo/Orphanet_52 http://linkedlifedata.com/resource/umls/id/C0085280 http://purl.obolibrary.org/obo/DOID_9245 https://omim.org/phenotypicSeries/PS118450 |
|
| has_exact_synonym |
syndromic bile duct paucity Alagille syndrome Alagille-Watson syndrome Arteriohepatic dysplasia |
|
| has_related_synonym |
Watson-Miller syndrome paucity of interlobular bile ducts Hepatofacioneurocardiovertebral syndrome Cardiovertebral syndrome hepatic ductular hypoplasia Watson Alagille syndrome |
|
| IAO_0000233 | ||
| id |
MONDO:0007318 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_malformation_syndrome http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease |
|
| label |
Alagille syndrome |
|
| notation |
MONDO:0007318 |
|
| preferred label |
Alagille syndrome |
|
| prefLabel |
Alagille syndrome |
|
| subClassOf |
http://www.ebi.ac.uk/efo/EFO_0003966 http://purl.obolibrary.org/obo/MONDO_0015161 http://www.ebi.ac.uk/efo/EFO_0009534 |