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Disease Ontology Browser
phenylketonuria (DOID:9281)
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Synonyms: Flling's disease; maternal phenylketonuria; phenylalaninemia; PKU
Alt IDs: OMIM:261600, DOID:14455, ICD9CM:270.1, MESH:D010661, MESH:D017042, NCI:C81315, UMLS_CUI:C0031485, UMLS_CUI:C0085547
Definition: An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.

Disease References using Mouse Models (9)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
10/17/2017
MGI 6.10
The Jackson Laboratory