National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
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Id http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118632
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118632
Preferred Name

Bardet-Biedl Syndrome
Definitions
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.
Synonyms
Laurence-Moon-Bardet-Biedl Syndrome
Laurence-Moon Syndrome
Bardet-Biedl Syndrome
Laurence-Moon-Biedl Syndrome
BBS
Type http://www.w3.org/2002/07/owl#Class

All Properties

label
Bardet-Biedl Syndrome
Preferred_Name
Bardet-Biedl Syndrome
Semantic_Type
Disease or Syndrome
prefixIRI
Thesaurus:C118632
DEFINITION
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.
UMLS_CUI
C0752166
code
C118632
subClassOf
type
FULL_SYN
Laurence-Moon-Bardet-Biedl Syndrome
Laurence-Moon Syndrome
Bardet-Biedl Syndrome
Laurence-Moon-Biedl Syndrome
BBS
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
Concept_In_Subset
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