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Metadata
ID DOID:9281
Name phenylketonuria
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.
http://en.wikipedia.org/wiki/Phenylketonuria
Xrefs

GARD:7383

ICD9CM:270.1

MESH:D010661

MESH:D017042

NCI:C81315

OMIM:261600

ORDO:716

SNOMEDCT_US_2020_03_01:154735006

SNOMEDCT_US_2020_03_01:297225000

UMLS_CUI:C0031485

UMLS_CUI:C0085547

Alternateids

DOID:14455

Subsets

NCIthesaurus

Synonyms

Folling's disease [EXACT]

maternal phenylketonuria [EXACT]

phenylalaninemia [EXACT]

PKU [EXACT]

Parent Relationships

is_a amino acid metabolic disorder

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