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Human Disease

Charcot-Marie-Tooth disease type 1G

Term ID
DOID:0111560
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. (2)
References
Ontology
Human Disease   ( DOID:0111560 )
Relationships
is a type of
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Genes Involved
Zebrafish Models