loading...| 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 |
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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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| closeMatch |
http://identifiers.org/snomedct/193162006 http://identifiers.org/snomedct/128202008 |
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| database_cross_reference |
MESH:D002607 MedDRA:10034699 Orphanet:166 GARD:0006034 DOID:10595 UMLS:C0007959 ICD10:G60.0 NCIT:C75467 OMIMPS:118220 ICD9:356.1 |
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| exactMatch |
http://purl.obolibrary.org/obo/NCIT_C75467 http://identifiers.org/meddra/10034699 http://purl.obolibrary.org/obo/DOID_10595 http://linkedlifedata.com/resource/umls/id/C0007959 |
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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 hereditary motor and sensory neuropathy hereditary sensorimotor neuropathy |
|
| has related synonym |
Charcot-Marie-Tooth disease/hereditary motor and sensory neuropathy Charcot Marie Tooth disease |
|
| id |
MONDO:0015626 |
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| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_group_of_disorders |
|
| label |
Charcot-Marie-Tooth disease |
|
| notation |
MONDO:0015626 |
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| prefLabel |
Charcot-Marie-Tooth disease |
|
| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
|
| 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 |