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Metadata
ID DOID:0050539
Name Charcot-Marie-Tooth disease type 2
Definition A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.
http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm, https://www.ncbi.nlm.nih.gov/pubmed/25098539
Xrefs

GARD:12431

ICD9CM:356.0

OMIM:118230

OMIM:604484

ORDO:64746

SNOMEDCT_US_2018_03_01:65017003

UMLS_CUI:C0392553

Subsets

DO_rare_slim

Synonyms

hereditary motor and sensory neuropathy Guadalajara neuronal type [EXACT]

hereditary motor and sensory neuropathy Okinawa type [EXACT]

hereditary motor and sensory neuropathy type 2 [EXACT]

Parent Relationships

is_a Charcot-Marie-Tooth disease

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