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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 MIM:PS209900 NCI:C118632 ORDO:110 SNOMEDCT_US_2023_03_01:5619004 UMLS_CUI:C0752166
Subsets	DO_rare_slim NCIthesaurus
Parent Relationships	is_a syndrome is_a autosomal recessive disease