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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Alstrom syndrome  
Cardioneuromyopathy with Hyaline Masses and Nemaline Rods 
Charcot-Marie-Tooth disease +   
A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343)
chronic fatigue syndrome  
Congenital Anterior Cervical Hypertrichosis with Peripheral Sensory and Motor Neuropathy 
Cyclic Vomiting Syndrome with Neuromuscular Disease 
Cyprus Facial Neuromusculoskeletal Syndrome 
distal hereditary motor neuronopathy type 7 +   
essential tremor 2  
Giant Axonal Neuropathy +   
GSD IV, Neuromuscular Form, Adult, with Isolated Myopathy 
GSD IV, Neuromuscular Form, Childhood  
GSD IV, Neuromuscular Form, Congenital  
GSD IV, Neuromuscular Form, Fatal Perinatal 
Hagemoser Weinstein Bresnick Syndrome 
Hereditary Motor and Sensory Neuropathy with Excessive Myelin Folding Complex, Autosomal Recessive 
Hereditary Motor and Sensory Neuropathy, Okinawa Type  
hereditary neuropathy with liability to pressure palsies  
Hereditary Sensorimotor Neuropathy with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance 
Hereditary Sensory Neuropathy with Spastic Paraplegia, Autosomal Recessive  
hereditary spastic paraplegia +   
locked-in syndrome 
motor neuron disease +   
muscular disease +   
neuromuscular junction disease +   
NEUROPATHY, CONGENITAL HYPOMYELINATING, 2  
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3  
Neuropathy, Hereditary Thermosensitive 
Polyneuropathy, Lethal Neonatal, Axonal Sensorimotor, Autosomal Recessive 
Refsum disease +   
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
Slowed Nerve Conduction Velocity, Autosomal Dominant  
SPOAN syndrome  
Stiff-Person syndrome  
Tamari Goodman Syndrome 

Synonyms
Exact Synonyms: CMT - Charcot-Marie-Tooth disease ;   Charcot Marie Tooth hereditary neuropathy ;   Charcot Marie Tooth muscular atrophy ;   Charcot Marie Tooth syndrome ;   Charcot Marie disease ;   Roussy Levy disease ;   Roussy Levy hereditary areflexic dystasia ;   Roussy Levy syndrome ;   hereditary areflexic dystasia ;   hereditary areflexic dystasias ;   peroneal muscular atrophies ;   peroneal muscular atrophy
Primary IDs: MESH:D002607
Alternate IDs: OMIM:180800 ;   RDO:0000338
Xrefs: GARD:6034 ;   NCI:C75467 ;   OMIM:PS118220
Definition Sources: MESH:D002607, https://www.genome.gov/11009201

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.