loading...| Preferred Name | Bulbo-Spinal Atrophy, X-Linked [Disease/Finding] | |
| Synonyms |
Kennedy Spinal and Bulbar Muscular Atrophy X-linked Bulbospinal Muscular Atrophy Bulbo-Spinal Atrophy, X-Linked Kennedy Syndrome Kennedy Disease X-Linked Spinal and Bulbar Muscular Atrophy X-Linked Bulbo-Spinal Atrophy Kennedy's Disease Bulbospinal Muscular Atrophy, X-linked Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
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| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000181249 |
|
| altLabel |
Kennedy Spinal and Bulbar Muscular Atrophy X-linked Bulbospinal Muscular Atrophy Bulbo-Spinal Atrophy, X-Linked Kennedy Syndrome Kennedy Disease X-Linked Spinal and Bulbar Muscular Atrophy X-Linked Bulbo-Spinal Atrophy Kennedy's Disease Bulbospinal Muscular Atrophy, X-linked Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
| cui |
C1839259 |
|
| MESH DEFINITION |
An X-linked recessive form of spinal muscular atrophy. It is due to a mutation of the gene encoding the ANDROGEN RECEPTOR. |
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| MESH DUI |
D055534 |
|
| MeSH name |
Bulbo-Spinal Atrophy, X-Linked |
|
| MESH UI |
M0518289 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000181249 |
|
| NUI |
N0000181249 |
|
| prefLabel |
Bulbo-Spinal Atrophy, X-Linked [Disease/Finding] |
|
| tui |
T047 |
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| subClassOf |