Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Progressive familial intrahepatic cholestasis
Synonyms

PFIC
ID

http://www.limics.org/hrdo/rdfns#pat_id_1073
ageOfOnset

Neonatal/infancy
altLabel

PFIC
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(benign%5Bti%5D+recurrent%5Bti%5D)+intrahepatic+cholestasis%5Btw%5D+OR+(cholestasis,+intrahepatic+(familial+OR+inherited)+progressive)
id_MIM

211600

601847

602347
id_OMS

K83.1
id_Orpha

172
id_SNOMEDCT

74162007
id_UMLS

C0268312
inheritance

Autosomal recessive
patType

disease
prefixIRI

hrdo:pat_id_1073
prefLabel

Progressive familial intrahepatic cholestasis
prevalence

Unknown
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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