loading...| Preferred Name |
Charcot-Marie-Tooth disease |
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| 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 |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0015626 |
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| has_broad_synonym |
hereditary motor and sensory neuropathy hereditary sensorimotor neuropathy |
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| 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 |
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| has_related_synonym |
Charcot-Marie-Tooth disease/hereditary motor and sensory neuropathy Charcot Marie Tooth disease |
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| label |
Charcot-Marie-Tooth disease |
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| prefixIRI |
MONDO:0015626 |
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| 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. |
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| subClassOf |