Metadata | |
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ID | DOID:0111209 |
Name | autosomal dominant distal hereditary motor neuronopathy 4 |
Definition | A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the HSPB3 gene on 5q11.2. https://www.ncbi.nlm.nih.gov/pubmed/20142617 |
Xrefs | |
Synonyms |
DHMN2C [EXACT] distal hereditary motor neuronopathy type 2C [EXACT] distal hereditary motor neuropathy type IIC [EXACT] HMN IIC [EXACT] HMN2C [EXACT] |
Parent Relationships |
is_a autosomal dominant distal hereditary motor neuronopathy |