loading...| Preferred Name | Spinal and bulbar muscular atrophy X-linked 1 | |
| Synonyms |
SMAX1 |
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| Definitions |
(SMAX1) - An X-linked recessive form of spinal muscular atrophy. Spinal muscular atrophy refers to a group of neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMAX1 occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. It is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia. The disorder is clinically similar to classic forms of autosomal spinal muscular atrophy. |
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| ID |
http://identifiers.org/omim/313200 |
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| altLabel |
SMAX1 |
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| definition |
(SMAX1) - An X-linked recessive form of spinal muscular atrophy. Spinal muscular atrophy refers to a group of neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMAX1 occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. It is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia. The disorder is clinically similar to classic forms of autosomal spinal muscular atrophy. |
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| id |
OMIM:313200 |
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| notation |
OMIM:313200 |
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| prefLabel |
Spinal and bulbar muscular atrophy X-linked 1 |
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| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://identifiers.org/omim/313200 | REXO | SAME_URI | |
| http://identifiers.org/omim/313200 | GEXO | SAME_URI | |
| 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://purl.obolibrary.org/obo/NCIT_C85233 | BERO | LOOM |