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Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
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| Preferred Name | progressive familial intrahepatic cholestasis | |
| Synonyms |
PFIC cholestasis, progressive familial intrahepatic |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0015762 |
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| altLabel |
PFIC cholestasis, progressive familial intrahepatic
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|
| 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.
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| has_exact_synonym |
PFIC cholestasis, progressive familial intrahepatic
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|
| label |
progressive familial intrahepatic cholestasis
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|
| prefixIRI |
MONDO:0015762
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| prefLabel |
progressive familial intrahepatic cholestasis
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| 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.
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0017755 |
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