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loading...| Preferred Name |
Bardet-Biedl Syndrome [Disease/Finding] |
|
| Synonyms |
Bardet-Biedl Syndrome |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000004188 |
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| altLabel |
Bardet-Biedl Syndrome Laurence-Moon-Bardet-Biedl Syndrome |
|
| cui |
C0752166 |
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| MESH DEFINITION |
An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8) |
|
| MESH DUI |
D020788 |
|
| MeSH name |
Bardet-Biedl Syndrome |
|
| MESH UI |
M0328149 |
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| NDFRT kind |
DISEASE_KIND |
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| notation |
N0000004188 |
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| NUI |
N0000004188 |
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| prefLabel |
Bardet-Biedl Syndrome [Disease/Finding] |
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| SNOMED CID |
5619004 |
|
| tui |
T047 |
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| subClassOf |
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