Spinal and Bulbar Muscular Atrophy, X-linked 1

Preferred Label : Spinal and Bulbar Muscular Atrophy, X-linked 1;

NCIt synonyms : Kennedy Disease; SBMA; SMAX1; Spinal and Bulbar Muscular Atrophy;

NCIt definition : A rare, slowly progressive degenerative disorder affecting males. It is caused by mutations in the androgen receptor (AR) gene. It is characterized by bulbar and limb muscle weakness and atrophy, and gynecomastia.;

Details

Origin ID

C85233;

UMLS CUI

C1839259;

Automatic exact mappings (from CISMeF team)
- androgen receptor [ORDO Gene]
- androgen receptor [HGNC gene]
- muscular disorders, atrophic [MeSH Descriptor]
Currated CISMeF NLP mapping
- Bulbo-Spinal atrophy, X-Linked [MeSH Descriptor]
- Bulbo-Spinal atrophy, X-Linked [MeSH concept]
- Bulbospinal muscular atrophy [ICD-11 More detail]
- Bulbospinal muscular atrophy [ORDO Disease]
- Bulbospinal neuronopathy (disorder) [SNOMED CT concept]
- Foster-Kennedy Syndrome [MedDRA Preferred Term]
- Kennedy disease [ORDO Disease]
- Kennedy syndrome [Disease (Nov.)]
- Kennedy's disease [PASCAL descriptor]
- Kennedy's disease [DO Concept]
- Kennedy's disease [MedDRA LLT]
- Kennedy's syndrome [MedDRA LLT]
- Spinal and bulbar muscular atrophy, X-linked 1 [OMIM Phenotype]
DO Cross reference
- Kennedy's disease [DO Concept]
Has associated anatomic sites
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bulbo-Spinal atrophy, X-Linked [MeSH concept]
- Bulbo-Spinal atrophy, X-Linked [MeSH Descriptor]
- Kennedy disease [ORDO Disease]
- Kennedy's disease [MedDRA LLT]
- Kennedy's disease [DO Concept]
- Kennedy's syndrome [MedDRA LLT]
- Spinal and bulbar muscular atrophy, X-linked 1 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- AR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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