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Bardet-Biedl syndrome

Disease Summary
Associated Targets (29)
Tbio

28

Tdark

1


Explore Associated Targets
Mondo Description Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems
Uniprot Description A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0015229:  Bardet-Biedl syndrome
GARD:0006866: 
MESH:D020788: 
NCIT:C118632: 
OMIMPS:209900: 
Orphanet:110: 
SCTID:5619004: 
UMLS:C0752166: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Parents
Tbio

1924

Tchem

362

Tdark

217

Tclin

142

Tbio

75

Tchem

10

Tclin

5

Tdark

2

Tbio

76

Tchem

8

Tdark

3

Tclin

2

Tbio

60

Tchem

9

Tclin

5

Tdark

2

Tbio

56

Tclin

3

Tchem

2

Tdark

2

Children
Target Novelty (Tin-x)