Charcot-Marie-Tooth disease dominant intermediate D

Go to external page http://purl.obolibrary.org/obo/MONDO_0011909


Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor. [ Orphanet:100046 ]

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C564333 (MONDO:equivalentTo)
  • DOID:0110200 (MONDO:equivalentTo)
  • Orphanet:100046 (OMIM:607791)
  • OMIM:607791 (Orphanet:100046)
  • ICD10:G60.0 (Orphanet:100046)
  • UMLS:C1843075 (Orphanet:100046)
  • SCTID:765747004 (MONDO:equivalentTo)
  • GARD:0009207 (Orphanet-shared)
Subsets

ordo_disease

abbreviation
CMTDID [ DOID:0110200 MONDO:Lexical Orphanet:100046 https://omim.org/entry/607791 ]

conformsTo

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

definition

Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.

exactMatch

http://linkedlifedata.com/resource/umls/id/C1843075

http://www.orpha.net/ORDO/Orphanet_100046

http://identifiers.org/omim/607791

http://purl.obolibrary.org/obo/DOID_0110200

http://identifiers.org/snomedct/765747004

http://identifiers.org/mesh/C564333

has exact synonym

DI-CMTD

Charcot-Marie-Tooth disease caused by mutation in MPZ

Charcot-Marie-Tooth disease dominant intermediate type D

Charcot-Marie-Tooth disease, dominant Intermediate type D

MPZ Charcot-Marie-Tooth disease

autosomal dominant intermediate Charcot-Marie-Tooth disease type D

CMTDID

Charcot-Marie-Tooth neuropathy dominant intermediate D

has related synonym

Charcot-Marie-Tooth disease, dominant intermediate D

MPZ-related intermediate Charcot-Marie-Tooth neuropathy

Di-Cmtd

Charcot Marie Tooth disease dominant intermediate 3

Charcot-Marie-Tooth neuropathy, dominant Intermediate D

id

MONDO:0011909