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General Information
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| Term |
autosomal recessive distal hereditary motor neuronopathy 1 |
ID (Ontology) |
DOID:0111064 (Human Disease) |
| 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. |
| Also Known As |
"autosomal recessive distal spinal muscular atrophy 1" ; "autosomal recessive spinal muscular atrophy with respiratory distress" ; "dHMN6" (for all, see Synonyms field below) |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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autosomal recessive distal hereditary motor neuronopathy 1 | 1 | for disease ribbon | autosomal recessive distal hereditary motor neuronopathy 1 | 1 | model of | autosomal recessive distal hereditary motor neuronopathy 1 | 1 |
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Relationships