OBO ID: DOID:0111064 |
Term Name: | autosomal recessive distal hereditary motor neuronopathy 1 | Search Ontology: | |
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Definition: | A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13. (2) | ||
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Ontology: | Human Disease ( DOID:0111064 ) |
OTHER autosomal recessive distal hereditary motor neuronopathy 1 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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