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Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
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| Id | http://purl.obolibrary.org/obo/MONDO_0016366
http://purl.obolibrary.org/obo/MONDO_0016366
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|---|---|
| Preferred Name | maternal phenylketonuria |
| Definitions |
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.
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| Synonyms |
phenylketonuric embryopathy
maternal PKU
maternal hyperphenylalaninemia
hyperphenylalaninemic embryopathy
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | 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. |
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| altLabel |
phenylketonuric embryopathy
maternal PKU
maternal hyperphenylalaninemia
hyperphenylalaninemic embryopathy
|
| label |
maternal phenylketonuria
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| prefLabel |
maternal phenylketonuria
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| IAO_0000233 | |
| prefixIRI |
MONDO:0016366
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| textual definition |
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.
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| subClassOf | |
| type | |
| has_exact_synonym |
phenylketonuric embryopathy
maternal PKU
maternal hyperphenylalaninemia
hyperphenylalaninemic embryopathy
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