loading...| Preferred Name | SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1 | |
| Synonyms |
SMAX1 KD BULBOSPINAL NEURONOPATHY, X-LINKED RECESSIVE BULBOSPINAL MUSCULAR ATROPHY, X-LINKED KENNEDY DISEASE SBMA XBSN KENNEDY SPINAL AND BULBAR MUSCULAR ATROPHY SPINAL AND BULBAR MUSCULAR ATROPHY |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/313200 |
|
| altLabel |
SMAX1 KD BULBOSPINAL NEURONOPATHY, X-LINKED RECESSIVE BULBOSPINAL MUSCULAR ATROPHY, X-LINKED KENNEDY DISEASE SBMA XBSN KENNEDY SPINAL AND BULBAR MUSCULAR ATROPHY SPINAL AND BULBAR MUSCULAR ATROPHY |
|
| cui |
C2931395 C1839259 |
|
| Gene Locus |
Xq11-q12 |
|
| Gene Symbol |
SBMA DHTR TFM SMAX1 HYSP1 AR KD |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU006965 http://purl.bioontology.org/ontology/OMIM/MTHU022604 http://purl.bioontology.org/ontology/OMIM/MTHU000660 http://purl.bioontology.org/ontology/OMIM/MTHU022609 http://purl.bioontology.org/ontology/OMIM/MTHU022601 http://purl.bioontology.org/ontology/OMIM/MTHU022600 http://purl.bioontology.org/ontology/OMIM/MTHU022603 http://purl.bioontology.org/ontology/OMIM/MTHU022602 http://purl.bioontology.org/ontology/OMIM/MTHU017069 http://purl.bioontology.org/ontology/OMIM/MTHU000328 http://purl.bioontology.org/ontology/OMIM/MTHU022605 http://purl.bioontology.org/ontology/OMIM/MTHU022606 http://purl.bioontology.org/ontology/OMIM/MTHU002771 http://purl.bioontology.org/ontology/OMIM/MTHU036443 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU001772 http://purl.bioontology.org/ontology/OMIM/MTHU022607 http://purl.bioontology.org/ontology/OMIM/MTHU010466 http://purl.bioontology.org/ontology/OMIM/MTHU008398 http://purl.bioontology.org/ontology/OMIM/MTHU005871 http://purl.bioontology.org/ontology/OMIM/MTHU014493 http://purl.bioontology.org/ontology/OMIM/MTHU038335 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
313200 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1 |
|
| Scope Statement |
Prevalence of 1 in 40,000 [MISCELLANEOUS] Childhood onset has been reported [MISCELLANEOUS] Slow progression [MISCELLANEOUS] Mild symptoms may occur in teenage years [MISCELLANEOUS] Allelic disorder to androgen insensitivity syndrome (AIS, 300068) [MISCELLANEOUS] Caused by a trinucleotide repeat expansion CAG(n) in the androgen receptor gene (AR, 313700.0014) [MOLECULAR BASIS] Onset usually between 30 and 50 years of age [MISCELLANEOUS] |
|
| tui |
T047 |