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DO Term : Bardet-Biedl syndrome [DOID:1935] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.
  • synonyms:
  • ORDO:110,
  • OMIM:PS209900,
  • UMLS_CUI:C0752166,
  • MESH:D020788,
  • ICD10CM:Q87.89,
  • GARD:6866,
  • NCI:C118632,
  • PS209900,
  • SNOMEDCT_US_2023_03_01:5619004
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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