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maternal phenylketonuria

Disease Summary
Associated Targets (0)

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Mondo Description Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.
Mondo Term and Equivalent IDs
MONDO:0016366:  maternal phenylketonuria
GARD:0003413: 
Orphanet:2209: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found