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vitamin B12-unresponsive methylmalonic acidemia type mut0

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.
Mondo Term and Equivalent IDs
MONDO:0017360:  vitamin B12-unresponsive methylmalonic acidemia type mut0
Orphanet:289916: 
SCTID:237945003: 
UMLS:CN203025: