Metadata | |
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ID | DOID:0110196 |
Name | Charcot-Marie-Tooth disease type 4G |
Definition | A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the HK1 gene on chromosome 10q22. https://www.ncbi.nlm.nih.gov/pubmed/19536174 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
autosomal recessive Charcot-Marie-Tooth disease type 4G [EXACT] Charcot-Marie-Tooth neuropathy type 4G [EXACT] CMT4G [EXACT] hereditary motor and sensory neuropathy Russe type [EXACT] HMSNR [EXACT] |
Parent Relationships |