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DO Term : phenylketonuria [DOID:9281] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.

synonyms:
DOID:14455,
MESH:D017042,
MESH:D010661,
phenylalaninemia,
ORDO:716,
ICD9CM:270.1,
UMLS_CUI:C0031485,
PKU,
261600,
GARD:7383,
OMIM:261600,
maternal phenylketonuria,
SNOMEDCT_US_2023_03_01:154735006,
SNOMEDCT_US_2023_03_01:297225000,
NCI:C81315,
Folling's disease,
UMLS_CUI:C0085547

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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