loading...| Preferred Name | progressive familial intrahepatic cholestasis | |
| Synonyms |
cholestasis, progressive familial intrahepatic 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://purl.obolibrary.org/obo/MONDO_0015762 |
|
| database_cross_reference |
Orphanet:172 DOID:0070221 NCIT:C84453 NANDO:2200933 UMLS:C0268312 NANDO:1201042 MEDGEN:75668 OMIMPS:211600 icd11.foundation:1457142642 GARD:15255 |
|
| 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. |
|
| has_exact_synonym |
cholestasis, progressive familial intrahepatic PFIC |
|
| id |
MONDO:0015762 |
|
| 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#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
progressive familial intrahepatic cholestasis |
|
| notation |
MONDO:0015762 |
|
| preferred label |
progressive familial intrahepatic cholestasis |
|
| prefLabel |
progressive familial intrahepatic cholestasis |
|
| skos_exactMatch |
http://identifiers.org/medgen/75668 http://purl.obolibrary.org/obo/DOID_0070221 http://purl.obolibrary.org/obo/Orphanet_172 http://linkedlifedata.com/resource/umls/id/C0268312 http://purl.obolibrary.org/obo/NCIT_C84453 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1457142642 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0017755 |