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Diseases
Bulbo-Spinal Atrophy, X-Linked
bulbo-spinal atrophy, x-linked
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Bulbo-Spinal Atrophy, X-Linked
- Standard Disease Name
- bulbo-spinal atrophy, x-linked
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- D055534
- OMIM ID
- 313200|313700
- UMLS ID
- C1839259
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D: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.|MSH2017_2016_08_12:An X-linked recessive form of spinal muscular atrophy. It is due to a mutation of the gene encoding the ANDROGEN RECEPTOR.
Related
Related Entities
Direct relations and traceable candidates grouped by relation type.
Related Targets
target disease8 Targets
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03
GRIA2
glutamate ionotropic receptor AMPA type subunit 2
glutamate ionotropic receptor AMPA type subunit 2
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