Orphanet Rare Disease Ontology

Last uploaded: December 4, 2024

Id	http://www.orpha.net/ORDO/Orphanet_172 http://www.orpha.net/ORDO/Orphanet_172
Preferred Name	Progressive familial intrahepatic cholestasis
Definitions	Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
Synonyms	PFIC
Type	http://www.w3.org/2002/07/owl#Class

definition_citation	Orphanet
definition	Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
label	Progressive familial intrahepatic cholestasis
prefLabel	Progressive familial intrahepatic cholestasis
hasDbXref	ICD-10:K76.8 OMIM:619868 OMIM:617049 OMIM:620010 OMIM:602347 UMLS:C0268312 MedDRA:10076033 OMIM:601847 OMIM:619484 OMIM:211600 ICD-11:5C58.03 OMIM:619849 OMIM:619662 OMIM:615878 See more See less
notation	ORPHA:172
alternative_term	PFIC
present_in	Worldwide AND has_point_prevalence_range : Unknown
part_of	http://www.orpha.net/ORDO/Orphanet_309816 http://www.orpha.net/ORDO/Orphanet_284385
prefixIRI	ORDO:Orphanet_172
expertlink	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=172
subClassOf	http://www.orpha.net/ORDO/Orphanet_377788 http://www.orpha.net/ORDO/Orphanet_557493
type	http://www.w3.org/2002/07/owl#Class
has_inheritance	Autosomal recessive
has_age_of_onset	Adolescent Childhood Infancy Neonatal
treeView	http://www.orpha.net/ORDO/Orphanet_309816 http://www.orpha.net/ORDO/Orphanet_284385

Delete	Subject	Author	Type	Created
No notes to display