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Charcot-Marie-Tooth disease

^ 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. [ NCIT:C75467 ]

Term info

database cross reference
  • DOID:10595 (MONDO:equivalentTo)
  • MedDRA:10034699 (Orphanet:166/e)
  • GARD:0006034 (MONDO:equivalentTo)
  • ICD9:356.1 (DOID:10595)
  • UMLS:C0007959 (Orphanet:166/e)
  • OMIMPS:118220 (MONDO:equivalentTo)
  • Orphanet:166 (MONDO:equivalentTo)
  • MESH:D002607 (Orphanet:166/e)
  • NCIT:C75467 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

abbreviation
CMT [ Orphanet:166 ]

closeMatch

http://identifiers.org/meddra/10034699

definition

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.

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 exact synonym

CMT - Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease, CMT/HMSN, Charcot-Marie-Tooth hereditary neuropathy, CMT, Charcot Marie Tooth muscular atrophy, peroneal muscular atrophy

has related synonym

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

id

MONDO:0015626