Charcot-Marie-Tooth disease axonal type 2Q

Go to external page http://purl.obolibrary.org/obo/MONDO_0014012


Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment. [ Orphanet:329258 ]

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:0012446 (Orphanet-shared)
  • Orphanet:329258 (OMIM:615025)
  • DOID:0110170 (MONDO:equivalentTo)
  • OMIM:615025 (Orphanet:329258)
  • ICD10:G60.0 (Orphanet:329258)
  • UMLS:C3554366 (OMIM:615025)
Subsets

ordo_disease

abbreviation
CMT2Q [ DOID:0110170 Orphanet:329258 MONDO:Lexical https://omim.org/entry/615025 ]

conformsTo

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

definition

Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment.

exactMatch

http://www.orpha.net/ORDO/Orphanet_329258

http://purl.obolibrary.org/obo/DOID_0110170

http://identifiers.org/omim/615025

http://linkedlifedata.com/resource/umls/id/C3554366

has exact synonym

DHTKD1 Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease caused by mutation in DHTKD1

autosomal dominant Charcot-Marie-Tooth disease type 2Q

Charcot-Marie-Tooth neuropathy type 2Q

CMT2Q

autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q

has related synonym

Charcot-Marie-Tooth disease type 2Q

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

Charcot-Marie-Tooth neuropathy, type 2Q

Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Q

id

MONDO:0014012