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DO Term : progressive familial intrahepatic cholestasis 2 [DOID:0070222] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31.
  • synonyms:
  • GARD:1288,
  • PFIC2,
  • ORDO:79304,
  • MESH:C535934,
  • 601847,
  • OMIM:601847,
  • SNOMEDCT_US_2023_03_01:1155841005,
  • BSEP deficiency,
  • UMLS_CUI:C3489789
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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





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