Term Name: | Charcot-Marie-Tooth disease type 1G |
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Synonyms: | CMT1G, PMP2-related Charcot-Marie-Tooth disease type 1, PMP2-related Charcot-Marie-Tooth neuropathy type 1, PMP2-related CMT1, PMP2-related hereditary motor and sensory neuropathy type 1 |
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. |
Ontology: | Human Disease [DOID:0111560] ( DOID:0111560 ) |