Disease association ontology term - MONDO:0011570 - Charcot-Marie-Tooth disease type 2B2
Term summary
- ID
- MONDO:0011570
- Name
- Charcot-Marie-Tooth disease type 2B2
- Ontology or CV name
- Disease association
- Definition
- Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry.
