Preferred Name |
progressive familial intrahepatic cholestasis |
|
Synonyms |
PFIC cholestasis, progressive familial intrahepatic |
|
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://purl.obolibrary.org/obo/MONDO_0015762 |
|
has_exact_synonym |
PFIC cholestasis, progressive familial intrahepatic |
|
label |
progressive familial intrahepatic cholestasis |
|
prefixIRI |
MONDO:0015762 |
|
prefLabel |
progressive familial intrahepatic cholestasis |
|
textual 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. |
|
subClassOf |
http://purl.obolibrary.org/obo/MONDO_0017755 |