| Metadata | |
|---|---|
| ID | DOID:0111560 |
| Name | Charcot-Marie-Tooth disease type 1G |
| Definition | A Charcot-Marie-Tooth disease type 1 characterized by distal muscle weakness and atrophy with onset in the first or second decade of life that has_material_basis_in heterozygous mutation in the PMP2 gene on chromosome 8q21.13. https://www.ncbi.nlm.nih.gov/pubmed/26828946, https://www.ncbi.nlm.nih.gov/pubmed/27009151 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
CMT1G [EXACT] PMP2-related Charcot-Marie-Tooth disease type 1 [EXACT] PMP2-related Charcot-Marie-Tooth neuropathy type 1 [EXACT] PMP2-related CMT1 [EXACT] PMP2-related hereditary motor and sensory neuropathy type 1 [EXACT] |
| Parent Relationships |