loading...| Preferred Name | maternal phenylketonuria | |
| Synonyms |
hyperphenylalaninemic embryopathy maternal PKU maternal hyperphenylalaninemia phenylketonuric embryopathy |
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| 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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| ID |
http://purl.obolibrary.org/obo/MONDO_0016366 |
|
| database_cross_reference |
MEDGEN:88435 MESH:D017042 icd11.foundation:1509230254 UMLS:C0085547 Orphanet:2209 GARD:3413 |
|
| 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. |
|
| has_exact_synonym |
hyperphenylalaninemic embryopathy maternal PKU maternal hyperphenylalaninemia phenylketonuric embryopathy |
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| IAO_0000233 | ||
| id |
MONDO:0016366 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_malformation_syndrome http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
maternal phenylketonuria |
|
| notation |
MONDO:0016366 |
|
| preferred label |
maternal phenylketonuria |
|
| prefLabel |
maternal phenylketonuria |
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| skos_exactMatch |
http://identifiers.org/mesh/D017042 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1509230254 http://linkedlifedata.com/resource/umls/id/C0085547 |
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| subClassOf |