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DOID DOID:1935
Name Bardet-Biedl syndrome
Definition An autosomal recessive disease 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_2018_03_01:5619004

UMLS_CUI:C0752166

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DO_rare_slim

NCIthesaurus

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is_a autosomal recessive disease

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