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Metadata
ID DOID:1935
Name Bardet-Biedl syndrome
Definition 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.
http://en.wikipedia.org/wiki/Bardet-Biedl_syndrome, http://en.wikipedia.org/wiki/Ciliopathy, http://ghr.nlm.nih.gov/condition/bardet-biedl-syndrome
Xrefs

GARD:6866

ICD10CM:Q87.89

MESH:D020788

NCI:C118632

OMIM:PS209900

ORDO:110

SNOMEDCT_US_2019_09_01:5619004

UMLS_CUI:C0752166

Subsets

DO_rare_slim

NCIthesaurus

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is_a syndrome

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