Bardet-Biedl syndrome

Term ID

DOID:1935

Synonyms

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. (3)

References

GARD:6866
ICD10CM:Q87.89
MESH:D020788
MIM:PS209900
NCI:C118632
ORDO:110
SNOMEDCT_US_2023_03_01:5619004
UMLS_CUI:C0752166

Ontology

Human Disease ( DOID:1935 )

Relationships

is a type of: autosomal recessive disease syndrome

autosomal recessive disease syndrome Show first 5 Terms
has subtype: Bardet-Biedl syndrome 1 Bardet-Biedl syndrome 2 Bardet-Biedl syndrome 3 Bardet-Biedl syndrome 4 Bardet-Biedl syndrome 5 ... Show All 22 Terms

Bardet-Biedl syndrome 1 Bardet-Biedl syndrome 2 Bardet-Biedl syndrome 3 Bardet-Biedl syndrome 4 Bardet-Biedl syndrome 5 Bardet-Biedl syndrome 6 Bardet-Biedl syndrome 7 Bardet-Biedl syndrome 8 Bardet-Biedl syndrome 9 Bardet-Biedl syndrome 10 Bardet-Biedl syndrome 11 Bardet-Biedl syndrome 12 Bardet-Biedl syndrome 13 Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 15 Bardet-Biedl syndrome 16 Bardet-Biedl syndrome 17 Bardet-Biedl syndrome 18 Bardet-Biedl syndrome 19 Bardet-Biedl syndrome 20 Bardet-Biedl syndrome 21 Bardet-Biedl syndrome 22 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models