Charcot-Marie-Tooth disease type 2

Term ID

DOID:0050539

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
MIM:118230
MIM:604484
ORDO:64746
SNOMEDCT_US_2023_03_01:193158000
UMLS_CUI:C0392553

Ontology

Human Disease ( DOID:0050539 )

Relationships

is a type of: Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease Show first 5 Terms
has subtype: Charcot-Marie-Tooth disease axonal type 2C Charcot-Marie-Tooth disease axonal type 2CC Charcot-Marie-Tooth disease axonal type 2F Charcot-Marie-Tooth disease axonal type 2H Charcot-Marie-Tooth disease axonal type 2K ... Show All 31 Terms

Charcot-Marie-Tooth disease axonal type 2C Charcot-Marie-Tooth disease axonal type 2CC Charcot-Marie-Tooth disease axonal type 2F Charcot-Marie-Tooth disease axonal type 2H Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease axonal type 2L Charcot-Marie-Tooth disease axonal type 2N Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease axonal type 2P Charcot-Marie-Tooth disease axonal type 2Q Charcot-Marie-Tooth disease axonal type 2S Charcot-Marie-Tooth disease axonal type 2T Charcot-Marie-Tooth disease axonal type 2U Charcot-Marie-Tooth disease axonal type 2V Charcot-Marie-Tooth disease axonal type 2X Charcot-Marie-Tooth disease axonal type 2Z Charcot-Marie-Tooth disease type 2A1 Charcot-Marie-Tooth disease type 2A2A Charcot-Marie-Tooth disease type 2A2B Charcot-Marie-Tooth disease type 2B Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 2DD Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease type 2EE Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth disease type 2Y Charcot-Marie-Tooth disease, axonal type 2W Show first 5 Terms

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Alliance (1)

Genes Involved

Zebrafish Models