OBO ID: DOID:0111552 |
Term Name: | scapuloperoneal spinal muscular atrophy | Search Ontology: | |
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Definition: | A motor neuron disease characterized by progressive scapuloperoneal atrophy and weakness, laryngeal palsy, congenital absence of muscles and in some cases developmental abnormalities of the bones that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. (2) | ||
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Ontology: | Human Disease ( DOID:0111552 ) |
OTHER scapuloperoneal spinal muscular atrophy PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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