FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term progressive familial intrahepatic cholestasis 5 ID (Ontology) DOID:0070225 (Human Disease)
Definition A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intralobular cholestasis with onset in the neonatal period that has_material_basis_in mutation in the NR1H4 gene on chromosome 12q.
Also Known As "NR1H4 deficiency" ; "PFIC5"
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 Genes
 progressive familial intrahepatic cholestasis 5       1
 for disease ribbon | progressive familial intrahepatic cholestasis 5       1
 model of | progressive familial intrahepatic cholestasis 5       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease____________________
intrahepatic cholestasis                           |
 |__progressive familial intrahepatic cholestasis__|
                                                   progressive familial intrahepatic cholestasis 5  1 rec.
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Is a autosomal recessive disease
progressive familial intrahepatic cholestasis
Part of
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Synonyms
  • "NR1H4 deficiency" EXACT
    "PFIC5" EXACT OMO:0003012
Secondary IDs
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MIM:617049
ORDO:480476