Experimental Factor Ontology

Last uploaded: November 18, 2024
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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
database_cross_reference

SCTID:74162007

Orphanet:284385

GARD:21119

ICD9:576.8
definition

An instance of intrahepatic cholestasis that is caused by an inherited modification of the individual's genome.
exactMatch

http://identifiers.org/snomedct/74162007

http://purl.obolibrary.org/obo/Orphanet_284385
has_exact_synonym

hereditary intrahepatic cholestasis
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/6651
id

MONDO:0017290
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#ordo_group_of_disorders

http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping
label

familial intrahepatic cholestasis
notation

MONDO:0017290
preferred label

familial intrahepatic cholestasis
prefLabel

familial intrahepatic cholestasis
subClassOf

http://purl.obolibrary.org/obo/MONDO_0019052

http://www.ebi.ac.uk/efo/EFO_0001421

http://purl.obolibrary.org/obo/MONDO_0019072
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