Search Ontology:
Human Disease
adult spinal muscular atrophy
- Term ID
- DOID:0050529
- Synonyms
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- SMA4
- spinal muscular atrophy 4
- SPINAL MUSCULAR ATROPHY, ADULT FORM
- SPINAL MUSCULAR ATROPHY, TYPE IV
- Definition
- A spinal muscular atrophy that is characterized by progressive muscular weakness and motor disability that typically presents in the third decade of life and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons. https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy
- References
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- ICD10CM:G12.1
- MESH:C563948
- MIM:271150
- ORDO:83420
- UMLS_CUI:C1838230
- Ontology
- Human Disease ( DOID:0050529 )
- is a type of
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Genes Involved
Zebrafish Models