OBO ID: DOID:0050539
Term Name: Charcot-Marie-Tooth disease type 2 Search Ontology:
Synonyms:
  • hereditary motor and sensory neuropathy Guadalajara neuronal type
  • hereditary motor and sensory neuropathy Okinawa type
  • hereditary motor and sensory neuropathy type 2
Definition: A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. (2)
References:
  • GARD:12431
  • ICD9CM:356.0
  • OMIM:118230
  • OMIM:604484
  • ORDO:64746
  • SNOMEDCT_US_2021_03_01:193158000
  • UMLS_CUI:C0392553
Ontology: Human Disease   (DOID:0050539)
Relationships
is a type of:
has subtype:
OTHER Charcot-Marie-Tooth disease type 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TFG Hereditary motor and sensory neuropathy, Okinawa type 604484
PHENOTYPE No data available

CITATIONS (4)