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DO Term : Bardet-Biedl syndrome 12 [DOID:0110134] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS12 gene on chromosome 4q27.
  • synonyms:
  • OMIM:615989,
  • 615989,
  • BBS12,
  • ICD10CM:Q87.89,
  • GARD:10211,
  • MESH:C565921
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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