An autosomal recessive inherited syndrome caused by mutations in at least fourteen different genes, called BBS genes. It is characterized by loss of vision, obesity, diabetes, hypertension, hypercholesterolemia, polydactyly, intellectual disability, genital organs abnormalities, and delayed development of motor skills. [ NCI ]

Synonyms:

BBS

Bardet-Biedl Syndrome

Laurence-Moon-Bardet-Biedl Syndrome

Laurence-Moon-Biedl Syndrome

Laurence-Moon Syndrome

This is just here as a test because I lose it

Term information

Subsets

NCIT_C90259, NCIT_C123272, NCIT_C165258, NCIT_C118467

ALT DEFINITION
  • A collection of autosomal recessive syndromes with similar phenotypes associated with mutations in at least one BBS gene. Clinical characteristics of this genetically heterogenous syndrome may include, but are not limited to, obesity, diabetes, hand anomalies, retinal dystrophy, genital anomalies, developmental delay, hypertension, and hypercholesterolemia.
Contributing Source
  • Cellosaurus
  • NICHD
Preferred Name
  • Bardet-Biedl Syndrome
Semantic Type
  • Disease or Syndrome
UMLS CUI
  • C0752166
code
  • C118632

Term relations

Subclass of: