Disease association ontology term - MONDO:0013212 - Charcot-Marie-Tooth disease axonal type 2N
Term summary
- ID
- MONDO:0013212
- Name
- Charcot-Marie-Tooth disease axonal type 2N
- Ontology or CV name
- Disease association
- Definition
- Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow.
