Ontology Browser

Charcot-Marie-Tooth disease (DOID:10595)
Annotations: Rat: (266) Mouse: (265) Human: (284) Chinchilla: (258) Bonobo: (263) Dog: (260) Squirrel: (259)
Parent Terms Term With Siblings Child Terms
Alport syndrome +   
Alstrom syndrome  
amyotrophic lateral sclerosis +   
autosomal genetic disease +   
Bartter disease +   
basal laminar drusen  
Brugada syndrome 2  
Brugada syndrome 3  
Brugada syndrome 4  
Brugada syndrome 5  
Brugada syndrome 6  
Brugada syndrome 8  
Camurati-Engelmann disease +   
cardiofaciocutaneous syndrome +   
Cardioneuromyopathy with Hyaline Masses and Nemaline Rods 
cataract +   
catecholaminergic polymorphic ventricular tachycardia +   
Cayman type cerebellar ataxia  
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  
cone-rod dystrophy +   
Congenital Anterior Cervical Hypertrichosis with Peripheral Sensory and Motor Neuropathy 
Cyclic Vomiting Syndrome with Neuromuscular Disease 
Cyprus Facial Neuromusculoskeletal Syndrome 
Distal Hereditary Motor Neuropathy, Type VIIA  
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 Essential Tremor, 2  
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, Hereditary Thermosensitive 
Opitz-GBBB syndrome +   
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 
X-linked monogenic disease +   
Y-linked monogenic disease +   

Exact Synonyms: CMT - Charcot-Marie-Tooth disease ;   Charcot Marie Tooth hereditary neuropathy ;   Charcot Marie Tooth muscular atrophy ;   Charcot Marie Tooth syndrome ;   Charcot Marie disease ;   Charcot-Marie-Tooth disease, slow nerve conduction type, linked to Duffy ;   HMN Distal Type I ;   HMSN I ;   HMSN II ;   HMSN Type I ;   HMSN type II ;   HMSN1 ;   Hereditary Areflexic Dystasia ;   Hereditary Areflexic Dystasias ;   Hereditary Motor and Sensory Neuropathy Type II ;   Hereditary Type I Motor and Sensory Neuropathy ;   Roussy Levy disease ;   Roussy Levy hereditary areflexic dystasia ;   Roussy Levy syndrome ;   peroneal muscular atrophies ;   peroneal muscular atrophy
Primary IDs: MESH:D002607
Alternate IDs: OMIM:180800 ;   RDO:0000338
Xrefs: GARD:6034 ;   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.