Disease association ontology term - MONDO:0011091 - Charcot-Marie-Tooth disease type 2D
Term summary
- ID
- MONDO:0011091
- Name
- Charcot-Marie-Tooth disease type 2D
- Ontology or CV name
- Disease association
- Definition
- Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.
