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Ontology Browser

Parent Terms Term With Siblings Child Terms
Alstrom syndrome  
autosomal dominant distal hereditary motor neuronopathy 7  
Cardioneuromyopathy with Hyaline Masses and Nemaline Rods 
Charcot-Marie-Tooth disease +   
A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm. (DO)
chronic fatigue syndrome  
Congenital Anterior Cervical Hypertrichosis with Peripheral Sensory and Motor Neuropathy 
Congenital Hypomyelinating Neuropathy +   
Cyclic Vomiting Syndrome with Neuromuscular Disease 
Cyprus Facial Neuromusculoskeletal Syndrome 
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 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 +   
Hereditary Thermosensitive Neuropathy 
locked-in syndrome 
motor neuron disease +   
muscular disease +   
neuromuscular junction disease +   
Neuromuscular Oculoauditory Syndrome  
Polyneuropathy, Lethal Neonatal, Axonal Sensorimotor, Autosomal Recessive 
Refsum disease +   
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
Slowed Nerve Conduction Velocity, Autosomal Dominant  
SPOAN syndrome  
Tamari Goodman Syndrome 

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
Xrefs: EFO:0004148 ;   GARD:6034 ;   ICD9CM:356.1 ;   MONDO:0015626 ;   NCI:C75467 ;   OMIM:PS118220
Definition Sources: "DO" "DO", "DO" "DO"

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