loading...| Preferred Name | Bulbo-Spinal Atrophy, X-Linked | |
| Synonyms |
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| Definitions |
A spinal muscular dystrophy that has material basis in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor. |
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| ID |
http://www.phoc.org.cn/pmo/class/PMO_00036612 |
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| Database_Cross_Reference |
OMIM:313200 OMIM:313700 MSH:D055534 MTH:NOCODE MDR:10023331 NCI:C85233 DO:DOID:0060161 MDR:10068600 NDFRT:N0000181249 CHV:0000017176 SNOMEDCT_US:230253001 MEDCIN:331417 |
|
| Definition |
A spinal muscular dystrophy that has material basis in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor. |
|
| label |
Bulbo-Spinal Atrophy, X-Linked |
|
| MCID |
MC00605518 |
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| PMOID |
PMO:00036612 |
|
| prefixIRI |
pmo:PMO_00036612 |
|
| prefLabel |
Bulbo-Spinal Atrophy, X-Linked |
|
| Synonym |
Kennedy Syndrome SBMA KENNEDY DISEASE Bulbospinal muscular atrophy X-linked Bulbospinal Muscular Atrophy Bulbospinal Muscular Atrophy, X-linked Disease, Kennedy's Spinal And Bulbar Muscular Atrophy, X-Linked 1 Disease, Kennedy kennedy's syndrome Atrophies, X-Linked Bulbo-Spinal X Linked Bulbo Spinal Atrophy Kennedy syndrome X-Linked Bulbo-Spinal Atrophy X-Linked Bulbo-Spinal Atrophies BULBOSPINAL MUSCULAR ATROPHY, X-LINKED Bulbospinal Muscular Atrophy, X linked Kennedy Spinal and Bulbar Muscular Atrophy X-linked bulbospinal atrophy Kennedys Disease Bulbo-Spinal Atrophies, X-Linked Bulbo Spinal Atrophy, X Linked X-Linked Spinal and Bulbar Muscular Atrophy KENNEDY SPINAL AND BULBAR MUSCULAR ATROPHY SPINAL AND BULBAR MUSCULAR ATROPHY Spinal And Bulbar Muscular Atrophy, X Linked 1 Kennedy's disease X-Linked Bulbar-Muscular Atrophy SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1 X linked Bulbospinal Muscular Atrophy Kennedy disease SMAX1 Syndrome, Kennedy spinal bulbar muscular atrophy Kennedy Disease Kennedy's Disease Kennedy's syndrome Bulbo-Spinal Atrophy, X-Linked [Disease/Finding] kennedy disease KD Spinobulbar Muscular Atrophy X Linked Spinal and Bulbar Muscular Atrophy Atrophy, X-Linked Bulbo-Spinal kennedy disease (diagnosis) X-linked Spinal and Bulbar Muscular Atrophy |
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| Tree Number |
T9.8.4.44.13 T9.21.13.3.3.2 T9.21.15.6.14.2 T9.21.4.1.3.2 T9.21.4.2.13 T9.8.4.41.13 |
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| subClassOf |
http://www.phoc.org.cn/pmo/class/PMO_00036611 http://www.phoc.org.cn/pmo/class/PMO_00009690 |