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DO Term : Bardet-Biedl syndrome 22 [DOID:0081011] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A Bardet-Biedl syndrome that is retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability has_material_basis_in compound heterozygous or homozygous mutation in the IFT74 gene on chromosome 9p21.
  • synonyms:
  • 617119,
  • OMIM:617119
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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