OntologyTerm
autosomal dominant intermediate Charcot-Marie-Tooth disease type G

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   December 12th, 2019 at 12:21am

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definition 
An autosomal dominant, intermediate form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Dominant intermediate forms are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. CMTDIG is phenotypically variable. Most affected individuals have onset in the first or second decades of slowly progressive distal motor weakness and atrophy, resulting in gait instability and distal upper limb impairment, as well as distal sensory impairment. (EFO)
namespace 
http://www.ebi.ac.uk/efo
parents 
  1. no view permissions
preferred_name 
autosomal dominant intermediate Charcot-Marie-Tooth disease type G
source_ontologies 
  1. Experimental Factor Ontology
synonyms 
  1. Charcot-Marie-Tooth disease, dominant intermediate G
term_id 
EFO:0010267
term_name 
autosomal dominant intermediate Charcot-Marie-Tooth disease type G
term_url 
http://www.ebi.ac.uk/efo/EFO_0010267