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Human Disease

autosomal dominant distal hereditary motor neuronopathy 10

Term ID
DOID:0081399
Synonyms
Definition
An autosomal dominant distal hereditary motor neuronopathy that is characterized clinically by length-dependent motor neuropathy primarily affecting the lower limbs and that has_material_basis_in heterozygous mutation in the EMILIN1 gene on chromosome 2p23. https://pubmed.ncbi.nlm.nih.gov/31978608/
References
Ontology
Human Disease   ( DOID:0081399 )
Relationships
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Genes Involved
Zebrafish Models