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DO Term : progressive familial intrahepatic cholestasis 5 [DOID:0070225] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • 617049,
  • NR1H4 deficiency,
  • OMIM:617049,
  • PFIC5,
  • ORDO:480476
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents