loading...| Preferred Name |
Bardet-Biedl Syndrome |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118632 |
| 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. |
| code |
C118632 |
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123272 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258 |
| Contributing_Source |
NICHD Cellosaurus |
| 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. |
| FULL_SYN |
Laurence-Moon-Biedl Syndrome Bardet-Biedl Syndrome Laurence-Moon Syndrome BBS Laurence-Moon-Bardet-Biedl Syndrome |
| label |
Bardet-Biedl Syndrome |
| Preferred_Name |
Bardet-Biedl Syndrome |
| prefixIRI |
Thesaurus:C118632 |
| prefLabel |
Bardet-Biedl Syndrome |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0752166 |
| subClassOf |