Search Ontology:
Human Disease

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
has subtype
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Genes Involved
Zebrafish Models