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malonic aciduria

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


GARD Rare
Mondo Description Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).
Uniprot Description Autosomal recessive disease characterized by abdominal pain, chronic constipation, episodic vomiting, metabolic acidosis and malonic aciduria.
Mondo Term and Equivalent IDs
MONDO:0009556:  malonic aciduria
GARD:0003371: 
MESH:C535702: 
Orphanet:943: 
SCTID:361203007: 
UMLS:C0342793: