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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/261600
http://purl.bioontology.org/ontology/OMIM/261600
|
|---|---|
| Preferred Name | PHENYLKETONURIA |
| Synonyms |
FOLLING DISEASE
PHENYLALANINE HYDROXYLASE DEFICIENCY
HYPERPHENYLALANINEMIA, NON-PKU MILD
PKU
OLIGOPHRENIA PHENYLPYRUVICA
PHENYLKETONURIA, MATERNAL
PAH DEFICIENCY
HPA, NON-PKU MILD
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
FOLLING DISEASE
PHENYLALANINE HYDROXYLASE DEFICIENCY
HYPERPHENYLALANINEMIA, NON-PKU MILD
PKU
OLIGOPHRENIA PHENYLPYRUVICA
PHENYLKETONURIA, MATERNAL
PAH DEFICIENCY
HPA, NON-PKU MILD
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|---|---|
| prefLabel | PHENYLKETONURIA
|
| Gene Symbol |
PAH
PKU1
|
| Scope Statement | Mousy odor [MISCELLANEOUS]
Caused by mutation in the phenylalanine hydroxylase gene (PAH, 612349.0001) [MOLECULAR BASIS]
Occurs in about 1 in 10,000 births [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 12q24.1
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 261600
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C0085547
C0751434
C2678416
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| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |