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General Information
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| Term |
autosomal dominant distal hereditary motor neuronopathy 2 |
ID (Ontology) |
DOID:0111206 (Human Disease) |
| Definition |
An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of slowly progressive distal limb weakness and atrophy with onset between 15 to 25 years of age and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24. |
| Also Known As |
"autosomal dominant adult spinal muscular atrophy IIA" ; "distal hereditary motor neuronopathy type 2" ; "distal hereditary motor neuronopathy type 2A" (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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| Data Class | Field | Records |
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| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 4 | | Human Disease Models (FBhh) | DOID | 1 |
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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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| Alleles | Genes | Human Disease Models |
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autosomal dominant distal hereditary motor neuronopathy 2 | 5 | 9 | 1 | ameliorates | autosomal dominant distal hereditary motor neuronopathy 2 | 2 | -- | -- | for disease ribbon | autosomal dominant distal hereditary motor neuronopathy 2 | -- | 6 | -- | model of | autosomal dominant distal hereditary motor neuronopathy 2 | 3 | 6 | -- |
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Relationships