loading...| 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 |
|
| database_cross_reference |
OMIMPS:211600 NANDO:2200933 icd11.foundation:1457142642 Orphanet:172 NCIT:C84453 GARD:15255 NANDO:1201042 MEDGEN:75668 UMLS:C0268312 DOID:0070221 |
|
| 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 |
PFIC cholestasis, progressive familial intrahepatic |
|
| id |
MONDO:0015762 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder |
|
| label |
progressive familial intrahepatic cholestasis |
|
| notation |
MONDO:0015762 |
|
| prefLabel |
progressive familial intrahepatic cholestasis |
|
| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
|
| 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 |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0017755 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0017755 |