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Charcot-Marie-Tooth disease type 2D

Go to external page http://purl.obolibrary.org/obo/MONDO_0011091

Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow. [ Orphanet:99938 ]

Synonyms: Charcot-Marie-Tooth disease type 2 caused by mutation in GARS Charcot-Marie-Tooth disease, type 2D Charcot-Marie-Tooth disease type 2D autosomal dominant Charcot-Marie-Tooth disease type 2D CMT2D Charcot-Marie-Tooth neuropathy type 2D Charcot-Marie-Tooth disease neuronal type 2D GARS Charcot-Marie-Tooth disease type 2

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:717011006 (MONDO:equivalentTo)
  • OMIM:601472 (Orphanet:99938/e)
  • NCIT:C122659 (MONDO:equivalentTo)
  • MESH:C537993 (MONDO:equivalentTo)
  • Orphanet:99938 (OMIM:601472)
  • UMLS:C1832274 (Orphanet:99938)
  • DOID:0110164 (MONDO:equivalentTo)
  • GARD:1251 (Orphanet:99938)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

exactMatch

http://www.orpha.net/ORDO/Orphanet_99938

http://linkedlifedata.com/resource/umls/id/C1832274

http://identifiers.org/snomedct/717011006

http://purl.obolibrary.org/obo/DOID_0110164

http://identifiers.org/mesh/C537993

http://purl.obolibrary.org/obo/NCIT_C122659

https://omim.org/entry/601472

has related synonym

CMT 2D

Charcot-Marie-Tooth disease, neuronal, type 2D

Charcot-Marie-Tooth disease, axonal, type 2D

Charcot Marie Tooth disease type 2D

Charcot-Marie-Tooth neuropathy, type 2D

id

MONDO:0011091

seeAlso

https://rarediseases.info.nih.gov/diseases/1251/charcot-marie-tooth-disease-type-2d

https://search.clinicalgenome.org/kb/conditions/MONDO:0011091

Term relations