Visualize Submit Comment
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_2023_03_01:5619004

UMLS_CUI:C0752166

Subsets

DO_rare_slim

NCIthesaurus

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

Add an item to the term tracker