loading...| Preferred Name |
Bulbo-Spinal Atrophy, X-Linked |
|
| Synonyms |
Bulbo-Spinal Atrophies, X-Linked |
|
| Definitions |
An X-linked recessive form of spinal muscular atrophy. It is due to a mutation of the gene encoding the ANDROGEN RECEPTOR. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D055534 |
|
| altLabel |
Bulbo-Spinal Atrophies, X-Linked X Linked Bulbo Spinal Atrophy Atrophies, X-Linked Bulbo-Spinal Muscular Atrophy, Spinobulbar Kennedy Spinal and Bulbar Muscular Atrophy X-linked Bulbospinal Muscular Atrophy Atrophy, Muscular, Spinobulbar X linked Bulbospinal Muscular Atrophy Kennedy Syndrome Kennedy Disease Bulbospinal Muscular Atrophy, X linked Bulbo Spinal Atrophy, X Linked X Linked Spinal and Bulbar Muscular Atrophy Atrophy, X-Linked Bulbo-Spinal Spinal and Bulbar Muscular Atrophy X-Linked Spinal and Bulbar Muscular Atrophy X-Linked Bulbo-Spinal Atrophy Atrophy, Spinobulbar Muscular X-Linked Bulbo-Spinal Atrophies Spinobulbar Muscular Atrophy Kennedy's Disease Bulbospinal Muscular Atrophy, X-linked Spinal And Bulbar Muscular Atrophy, X-Linked 1 Spinal And Bulbar Muscular Atrophy, X Linked 1 Spinobulbar Muscular Atrophies |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C1839259 |
|
| DC |
1 |
|
| definition |
An X-linked recessive form of spinal muscular atrophy. It is due to a mutation of the gene encoding the ANDROGEN RECEPTOR. |
|
| DX |
20090101 |
|
| HN |
2009(2000); use MUSCULAR ATROPHY, SPINAL 2000-2008 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
2009; see MUSCULAR ATROPHY, SPINAL 2000-2008 |
|
| Mapped from | ||
| MDA |
20080708 |
|
| MMR |
20180629 |
|
| MN |
C10.668.467.500.186 C16.320.322.076 C10.574.562.500.374 C16.320.400.100 C10.574.500.175 C10.228.854.468.399 |
|
| notation |
D055534 |
|
| prefLabel |
Bulbo-Spinal Atrophy, X-Linked |
|
| TERMUI |
T842505 T369607 T842506 T751050 T751049 T751047 T372532 T372533 T751048 T751051 T372531 T714349 T369583 T369582 |
|
| TH |
OMIM (2013) NLM (2009) NLM (2000) NLM (2010) GHR (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D040181 |