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Disease Ontology Browser
phenylketonuria (DOID:9281)
Alliance: disease page
Synonyms: Folling's disease; maternal phenylketonuria; phenylalaninemia; PKU
Alt IDs: OMIM:261600, DOID:14455, ICD9CM:270.1, MESH:D010661, MESH:D017042, NCI:C81315, ORDO:716, 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 (12)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory