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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. [ NCIT:C75467 ]

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

This is just here as a test because I lose it

Term information

database cross reference
  • NORD:919 (MONDO:NORD)
  • MESH:D002607 (Orphanet:166/e)
  • DOID:10595 (MONDO:equivalentTo)
  • ICD9:356.1 (DOID:10595)
  • NANDO:2200855 (https://orcid.org/0000-0003-0011-764X)
  • icd11.foundation:1538134578 (https://orcid.org/0000-0002-4142-7153)
  • OMIMPS:118220 (MONDO:equivalentTo)
  • NCIT:C75467 (MONDO:equivalentTo)
  • UMLS:C0007959 (MONDO:equivalentTo)
  • GARD:6034 (MONDO:GARD)
  • MedDRA:10034699 (Orphanet:166/e)
  • MEDGEN:2980 (MONDO:equivalentTo)
  • NANDO:1200016 (https://orcid.org/0000-0003-0011-764X)
  • Orphanet:166 (MONDO:equivalentTo)
Subsets

gard_rare, otar, disease_grouping, rare, nord_rare, clingen, ordo_group_of_disorders

closeMatch

http://identifiers.org/meddra/10034699

exactMatch

http://linkedlifedata.com/resource/umls/id/C0007959

https://omim.org/phenotypicSeries/PS118220

http://identifiers.org/medgen/2980

http://identifiers.org/mesh/D002607

http://purl.obolibrary.org/obo/DOID_10595

http://purl.obolibrary.org/obo/NCIT_C75467

http://www.orpha.net/ORDO/Orphanet_166

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

Term relations