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Human Disease
autosomal recessive distal hereditary motor neuronopathy 3
- Term ID
- DOID:0111211
- Synonyms
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- autosomal recessive distal spinal muscular atrophy type 3
- dHMN3
- dHMN3 and dHMN4
- dHMN4
- distal hereditary motor neuropathy type 3
- distal hereditary motor neuropathy type 3 and type 4
- distal hereditary motor neuropathy type 4
- distal spinal muscular atrophy type 3
- dSMA3
- Definition
- An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and wasting with variable severity that has_material_basis_in homozygous mutation in a 2.6-cM region of chromosome 11q13.3. https://www.ncbi.nlm.nih.gov/pubmed/15054395
- References
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- MESH:C564626
- MIM:607088
- ORDO:139547
- SNOMEDCT_US_2023_03_01:770430000
- UMLS_CUI:C1846823
- Ontology
- Human Disease ( DOID:0111211 )
- is a type of
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Genes Involved
Zebrafish Models