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loading...| Preferred Name | Spinal and Bulbar Muscular Atrophy, X-linked 1 | |
| Synonyms |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C85233 |
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| code |
C85233 |
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| Contributing_Source |
Cellosaurus |
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| 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. |
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| in_subset | ||
| label |
Spinal and Bulbar Muscular Atrophy, X-linked 1 |
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| Preferred_Name |
Spinal and Bulbar Muscular Atrophy, X-linked 1 |
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| prefixIRI |
NCIT:C85233 |
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| prefLabel |
Spinal and Bulbar Muscular Atrophy, X-linked 1 |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C1839259 |
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| subClassOf |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/OMIM_313200 | CCO | LOOM | |
| http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85233 | NCIT | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/313200 | OMIM | LOOM | |
| http://identifiers.org/omim/313200 | REXO | LOOM | |
| http://identifiers.org/omim/313200 | GEXO | LOOM | |
| http://identifiers.org/omim/313200 | RETO | LOOM |