Metadata | |
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ID | DOID:0111211 |
Name | autosomal recessive distal hereditary motor neuronopathy 3 |
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 |
Xrefs |
SNOMEDCT_US_2023_03_01:770430000 |
Subsets |
DO_rare_slim |
Synonyms |
autosomal recessive distal spinal muscular atrophy type 3 [EXACT] dHMN3 and dHMN4 [EXACT] dHMN3 [EXACT] dHMN4 [EXACT] distal hereditary motor neuropathy type 3 and type 4 [EXACT] distal hereditary motor neuropathy type 3 [EXACT] distal hereditary motor neuropathy type 4 [EXACT] distal spinal muscular atrophy type 3 [EXACT] dSMA3 [EXACT] |
Parent Relationships |
is_a autosomal recessive distal hereditary motor neuronopathy |
Subclass Logical Relationships |
has symptom some muscle weakness |