Bulbo-Spinal Atrophy, X-Linked
Disease ID: disease_node_12066
Connections displayed (default: 10).
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| Dbxref | GARD:6818, MESH:D055534, MIM:313200, NCI:C85233, SNOMEDCT_US_2023_03_01:230253001, UMLS_CUI:C1839259 |
|---|---|
| Subclassof | DOID_0080012, DOID_12377 |
| Data Source | DOID, MESH |
| Synonyms | Kennedy disease, SBMA, Spinobulbar Muscular Atrophy, X-Linked Bulbo-Spinal Atrophy, X-linked Spinal and Bulbar Muscular Atrophy, spinal bulbar muscular atrophy |
| Disease Has Location | UBERON_0002257 |
| Mesh Id | D055534 |
| Mesh Label | Bulbo-Spinal Atrophy, X-Linked |
| Mesh Subclassof | D040181, D009134, D020271 |
| Doid Label | Kennedy's disease |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_12066 |
| Doid Id | DOID_0060161 |
| Label | Bulbo-Spinal Atrophy, X-Linked |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease)