loading...| Preferred Name |
Progressive familial intrahepatic cholestasis |
|
| Synonyms |
PFIC |
|
| 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. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_172 |
|
| alternative_term |
PFIC |
|
| 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. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=172 |
|
| has_age_of_onset |
Adolescent Childhood Infancy Neonatal |
|
| has_inheritance |
Autosomal recessive |
|
| 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 |
|
| label |
Progressive familial intrahepatic cholestasis |
|
| notation |
ORPHA:172 |
|
| part_of | ||
| prefixIRI |
ORDO:Orphanet_172 |
|
| prefLabel |
Progressive familial intrahepatic cholestasis |
|
| present_in |
Worldwide AND has_point_prevalence_range : Unknown |
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| treeView | ||
| subClassOf |