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 ]

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C0007959 (Orphanet:166)
  • NCIT:C75467 (MONDO:equivalentTo)
  • DOID:10595 (MONDO:equivalentTo)
  • Orphanet:166 (MONDO:equivalentTo)
  • MedDRA:10034699 (Orphanet:166)
  • MESH:D002607 (Orphanet:166)
  • ICD10:G60.0 (Orphanet:166)
  • GARD:0006034 (Orphanet-shared)
  • ICD9:356.1 (DOID:10595)
  • OMIMPS:118220 (MONDO:equivalentTo)
Subsets

ordo_group_of_disorders

abbreviation
CMT [ Orphanet:166 ]

closeMatch

http://identifiers.org/snomedct/193162006

http://identifiers.org/snomedct/193158000

http://identifiers.org/snomedct/128202008

http://identifiers.org/snomedct/50548001

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

http://identifiers.org/meddra/10034699

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 exact synonym

CMT - Charcot-Marie-Tooth disease

hereditary motor and sensory neuropathy

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth hereditary neuropathy

CMT/HMSN

hereditary sensorimotor 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

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml