Mondo term (ID and Label)
Charcot-Marie-Tooth disease axonal type 2T
MONDO:0014866
Reason for deprecation
I think this "Axonal type" CMT 2T term in Mondo has a lot of errors and the main concept is the same as Orphanet 495274 (CMT 2T due to MME mutation).
Orpha Xref currently on MONDO:0014866 should be moved; DNAJB2 != MME; DNAJB2-related Charcot-Marie-Tooth disease type 2ordo I think this matches OMIM 614881 "NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 5" and MONDO:0013947. Orphanet themselves map Orpha443950 to MIM:614881 (but they say it's NTBT; perhaps because the Orpha record maps only to 1 of the 3 articles that OMIM reports?) But the Causative gene in both OMIM and Orpha are the same so it's a much better fit than the current mapping of ORPHA443950 in Mondo.
Term to be merged with
Charcot-Marie-Tooth disease type 2T
MONDO:0044640
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