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loading...| Preferred Name |
Charcot-Marie-Tooth Disease |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75467 |
| code |
C75467 |
| 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. |
| FULL_SYN |
Hereditary Sensorimotor Neuropathy Hereditary Motor and Sensory Neuropathy |
| label |
Charcot-Marie-Tooth Disease |
| Legacy_Concept_Name |
Charcot_Marie_Tooth_Disease |
| Preferred_Name |
Charcot-Marie-Tooth Disease |
| prefixIRI |
C75467 |
| prefLabel |
Charcot-Marie-Tooth Disease |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0007959 |
| subClassOf |