OBO ID: DOID:1935
Term Name: Bardet-Biedl syndrome Search Ontology:
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:
Ontology: Human Disease   (DOID:1935)
Relationships
is a type of:
has subtype:
OTHER Bardet-Biedl syndrome PAGES
GENES INVOLVED No data available
PHENOTYPE No data available

CITATIONS (22)
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