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DO Term : familial hypercholanemia 2 [DOID:0061182] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A steroid inherited metabolic disorder characterized by persistently increased plasma levels of conjugated bile salts apparent from infancy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC10A1 gene on chromosome 14q24.
  • synonyms:
  • 619256,
  • OMIM:619256
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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