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
  • UMLS:C1843075 (Orphanet:100046)
  • OMIM:607791 (Orphanet:100046/e)
  • Orphanet:100046 (OMIM:607791)
  • GARD:0009207 (MONDO:equivalentTo)
  • ICD10CM:G60.0 (Orphanet:100046/ntbt)
  • MESH:C564333 (MONDO:equivalentTo)
  • DOID:0110200 (MONDO:equivalentTo)
  • SCTID:765747004 (MONDO:equivalentTo)
Subsets

ordo_disease

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://identifiers.org/mesh/C564333
  • http://linkedlifedata.com/resource/umls/id/C1843075
  • http://identifiers.org/snomedct/765747004
  • https://omim.org/entry/607791
  • http://purl.obolibrary.org/obo/DOID_0110200
  • http://www.orpha.net/ORDO/Orphanet_100046
has exact synonym
  • CMTDID
  • Charcot-Marie-Tooth disease, dominant Intermediate type D
  • Charcot-Marie-Tooth neuropathy dominant intermediate D
  • autosomal dominant intermediate Charcot-Marie-Tooth disease type D
  • Charcot-Marie-Tooth disease dominant intermediate type D
  • DI-CMTD
  • Charcot-Marie-Tooth disease caused by mutation in MPZ
  • MPZ Charcot-Marie-Tooth disease
has related synonym
  • MPZ-related intermediate Charcot-Marie-Tooth neuropathy
  • Charcot Marie Tooth disease dominant intermediate 3
  • Charcot-Marie-Tooth disease, dominant intermediate D
  • Charcot-Marie-Tooth neuropathy, dominant Intermediate D
  • Di-Cmtd
id
  • MONDO:0011909
narrowMatch
  • http://apps.who.int/classifications/icd10/browse/2010/en#/G60.0