CUI | Disease | Vocabulary | Name in Vocabulary | Code |
---|---|---|---|---|
C4749824 | Charcot-Marie-Tooth disease type 2B5 | MONDO | severe early-onset axonal neuropathy due to NEFL deficiency | 0016454 |
C4749824 | Charcot-Marie-Tooth disease type 2B5 | ORDO | Charcot-Marie-Tooth disease type 2B5 | 228374 |