Preferred Name

Charcot-Marie-Tooth disease

Synonyms

Charcot Marie Tooth muscular atrophy

CMT

Charcot-Marie-Tooth disease

CMT/HMSN

peroneal muscular atrophy

Charcot-Marie-Tooth hereditary neuropathy

CMT - Charcot-Marie-Tooth disease

hereditary motor and sensory neuropathy

hereditary sensorimotor neuropathy

Charcot-Marie-Tooth disease/hereditary motor and sensory neuropathy

Charcot Marie Tooth disease

Definitions

An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs.

ID

http://purl.obolibrary.org/obo/MONDO_0015626

has_broad_synonym

hereditary motor and sensory neuropathy

hereditary sensorimotor neuropathy

has_exact_synonym

Charcot Marie Tooth muscular atrophy

CMT

Charcot-Marie-Tooth disease

CMT/HMSN

peroneal muscular atrophy

Charcot-Marie-Tooth hereditary neuropathy

CMT - Charcot-Marie-Tooth disease

has_related_synonym

Charcot-Marie-Tooth disease/hereditary motor and sensory neuropathy

Charcot Marie Tooth disease

label

Charcot-Marie-Tooth disease

prefixIRI

MONDO:0015626

prefLabel

Charcot-Marie-Tooth disease

textual definition

An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs.

subClassOf

http://purl.obolibrary.org/obo/MONDO_0020127

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http://purl.obolibrary.org/obo/MONDO_0015626 MONDO SAME_URI
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