Search Ontology:
Human Disease
Charcot-Marie-Tooth disease type 1G
- Term ID
- DOID:0111560
- Synonyms
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- 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. (2)
- References
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- MIM:618279
- ORDO:476394
- Ontology
- Human Disease ( DOID:0111560 )
- is a type of
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