Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023

Preferred Name	familial intrahepatic cholestasis
Synonyms	hereditary intrahepatic cholestasis
Definitions	An instance of intrahepatic cholestasis that is caused by an inherited modification of the individual's genome.
ID	http://purl.obolibrary.org/obo/MONDO_0017290
has_exact_synonym	hereditary intrahepatic cholestasis
label	familial intrahepatic cholestasis
prefixIRI	MONDO:0017290
prefLabel	familial intrahepatic cholestasis
textual definition	An instance of intrahepatic cholestasis that is caused by an inherited modification of the individual's genome.
subClassOf	http://purl.obolibrary.org/obo/MONDO_0015509 http://purl.obolibrary.org/obo/MONDO_0019052 http://purl.obolibrary.org/obo/MONDO_0019072

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0017290	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0017290	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0017290	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0017290	EFO	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_20602	HRDO	LOOM
http://www.orpha.net/ORDO/Orphanet_284385	ORDO	LOOM