Terminology Service for NFDI4Health
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Charcot-Marie-Tooth disease

Go to external page http://purl.obolibrary.org/obo/MONDO_0015626

An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs. [ ]

Term info

Label

Charcot-Marie-Tooth disease

Synonyms
  • CMT
  • CMT - Charcot-Marie-Tooth disease
  • CMT/HMSN
  • Charcot Marie Tooth muscular atrophy
  • Charcot-Marie-Tooth disease
  • Charcot-Marie-Tooth hereditary neuropathy
  • peroneal muscular atrophy
database cross reference
Subsets

disease_grouping, ordo_group_of_disorders

closeMatch

http://identifiers.org/meddra/10034699

exactMatch

http://linkedlifedata.com/resource/umls/id/C0007959, https://omim.org/phenotypicSeries/PS118220, http://purl.obolibrary.org/obo/Orphanet_166, http://identifiers.org/mesh/D002607, http://purl.obolibrary.org/obo/DOID_10595, http://purl.obolibrary.org/obo/NCIT_C75467

has broad synonym

hereditary motor and sensory neuropathy, hereditary sensorimotor neuropathy

has related synonym

Charcot-Marie-Tooth disease/hereditary motor and sensory neuropathy, Charcot Marie Tooth disease

id

MONDO:0015626

narrowMatch

https://icd.codes/icd10cm/G60.0