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Human Disease
autosomal recessive distal hereditary motor neuronopathy 8
- Term ID
- DOID:0081427
- Synonyms
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- sorbitol dehydrogenase deficiency with peripheral neuropathy
- Definition
- An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21. https://pubmed.ncbi.nlm.nih.gov/32367058/
- References
- Ontology
- Human Disease ( DOID:0081427 )
- is a type of
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Genes Involved
Zebrafish Models