Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

Alagille syndrome

Synonyms

Arteriohepatic dysplasia

Definitions

A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts. OMIM mapping confirmed by DO. [SN].

ID

http://purl.obolibrary.org/obo/DOID_9245

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

OMIM:610205

GARD:804

MESH:D016738

ICD10CM:Q44.7

NCI:C35139

UMLS_CUI:C0085280

SNOMEDCT_US_2022_09_01:31742004

OMIM:118450

ORDO:52

definition

A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts.

has exact match

MESH:D016738

has exact synonym

Arteriohepatic dysplasia

Alagille-Watson syndrome

has_obo_namespace

disease_ontology

id

DOID:9245

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

http://purl.obolibrary.org/obo/doid#NCIthesaurus

label

Alagille syndrome

notation

DOID:9245

prefLabel

Alagille syndrome

subClassOf

http://purl.obolibrary.org/obo/DOID_409

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