loading...| Preferred Name |
Kennedy's disease |
|
| Synonyms |
X-linked Spinal and Bulbar Muscular Atrophy Kennedy disease |
|
| 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. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0060161 |
|
| Obsolete |
true |
|
| created by |
lschriml |
|
| creation_date |
2011-08-29T01:31:03Z |
|
| database_cross_reference |
MESH:D055534 OMIM:313200 SNOMEDCT_US_2023_03_01:230253001 UMLS_CUI:C1839259 GARD:6818 NCI:C85233 |
|
| 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. |
|
| has exact synonym |
Kennedy disease SBMA spinal bulbar muscular atrophy X-Linked Bulbo-Spinal Atrophy Spinobulbar Muscular Atrophy X-linked Spinal and Bulbar Muscular Atrophy |
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0060161 |
|
| in_subset |
http://purl.obolibrary.org/obo/doid#NCIthesaurus |
|
| label |
Kennedy's disease |
|
| notation |
DOID:0060161 |
|
| owl:deprecated |
true |
|
| prefLabel |
Kennedy's disease |
|
| subClassOf |
http://uri.neuinfo.org/nif/nifstd/birnlex_12568 |