Metadata | |
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ID | DOID:0111210 |
Name | autosomal dominant distal hereditary motor neuronopathy 6 |
Definition | A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the FBXO38 gene on 5q32. https://www.ncbi.nlm.nih.gov/pubmed/24207122 |
Xrefs | |
Synonyms |
distal hereditary motor neuronopathy type 2D [EXACT] distal hereditary motor neuropathy type IID [EXACT] distal spinal muscular atrophy with calf predominance [EXACT] HMN IID [EXACT] HMN2D [EXACT] |
Parent Relationships |
is_a autosomal dominant distal hereditary motor neuronopathy |