loading...| Preferred Name |
Charcot-Marie-Tooth Disease [Disease/Finding] |
|
| Synonyms |
Muscular Atrophy, Peroneal |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000000742 |
|
| altLabel |
Muscular Atrophy, Peroneal Charcot-Marie-Tooth Disease Charcot-Marie Disease Atrophy, Muscular, Peroneal Peroneal Muscular Atrophy Charcot-Marie-Tooth Syndrome Charcot-Marie-Tooth Hereditary Neuropathy |
|
| cui |
C0007959 |
|
| Has contraindicated drug |
http://purl.bioontology.org/ontology/NDFRT/N0000189276 http://purl.bioontology.org/ontology/NDFRT/N0000149575 http://purl.bioontology.org/ontology/NDFRT/N0000145924 |
|
| MESH DEFINITION |
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) |
|
| MESH DUI |
D002607 |
|
| MeSH name |
Charcot-Marie-Tooth Disease |
|
| MESH UI |
M0003994 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000000742 |
|
| NUI |
N0000000742 |
|
| prefLabel |
Charcot-Marie-Tooth Disease [Disease/Finding] |
|
| SNOMED CID |
50548001 |
|
| tui |
T047 |
|
| subClassOf |