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January 16, 2025
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| Id | http://purl.bioontology.org/ontology/MESH/D010661
http://purl.bioontology.org/ontology/MESH/D010661
|
|---|---|
| Preferred Name | Phenylketonurias |
| Definitions |
A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).
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| Synonyms |
Dihydropteridine Reductase Deficiency Disease
Phenylalanine Hydroxylase Deficiency
Deficiency, Tetrahydrobiopterin
HPABH4C
Deficiency, QDPR
Dihydropteridine Reductase Deficiency
Phenylalanine Hydroxylase Deficiency Disease
Phenylketonuria Type 2
Phenylalanine Hydroxylase Deficiency Disease, Severe
Tetrahydrobiopterin Deficiency
Deficiency Disease, Phenylalanine Hydroxylase, Severe
Hyperphenylalaninemia, Non-Phenylketonuric
Disease, Folling
Disease, Folling's
Phenylketonuria, Atypical
Hyperphenylalaninemia, Non Phenylketonuric
Folling's Disease
Phenylketonuria I
Biopterin Deficiencies
Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism
Hyperphenylalaninemia, BH4-Deficient, C
Phenylketonuria, Classical
Non-Phenylketonuric Hyperphenylalaninemia
Folling Disease
Classical Phenylketonuria
QDPR Deficiency
BH4 Deficiency
Deficiency, PAH
Non-Phenylketonuric Hyperphenylalaninemias
Deficiency, Dihydropteridine Reductase
Deficiency, DHPR
PAH Deficiency
Non Phenylketonuric Hyperphenylalaninemia
Phenylketonuria II
Phenylketonuria
Deficiency, BH4
Oligophrenia Phenylpyruvica
Hyperphenylalaninaemia
Quinoid Dihydropteridine Reductase Deficiency
Atypical PKU
Biopterin Deficiency
Deficiency, Biopterin
Deficiency Disease, Phenylalanine Hydroxylase
Deficiency, Phenylalanine Hydroxylase
DHPR Deficiency
Deficiency Disease, Dihydropteridine Reductase
PKU, Atypical
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To DHPR Deficiency
Atypical Phenylketonuria
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952). |
|---|---|
| altLabel |
Dihydropteridine Reductase Deficiency Disease
Phenylalanine Hydroxylase Deficiency
Deficiency, Tetrahydrobiopterin
HPABH4C
Deficiency, QDPR
Dihydropteridine Reductase Deficiency
Phenylalanine Hydroxylase Deficiency Disease
Phenylketonuria Type 2
Phenylalanine Hydroxylase Deficiency Disease, Severe
Tetrahydrobiopterin Deficiency
Deficiency Disease, Phenylalanine Hydroxylase, Severe
Hyperphenylalaninemia, Non-Phenylketonuric
Disease, Folling
Disease, Folling's
Phenylketonuria, Atypical
Hyperphenylalaninemia, Non Phenylketonuric
Folling's Disease
Phenylketonuria I
Biopterin Deficiencies
Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism
Hyperphenylalaninemia, BH4-Deficient, C
Phenylketonuria, Classical
Non-Phenylketonuric Hyperphenylalaninemia
Folling Disease
Classical Phenylketonuria
QDPR Deficiency
BH4 Deficiency
Deficiency, PAH
Non-Phenylketonuric Hyperphenylalaninemias
Deficiency, Dihydropteridine Reductase
Deficiency, DHPR
PAH Deficiency
Non Phenylketonuric Hyperphenylalaninemia
Phenylketonuria II
Phenylketonuria
Deficiency, BH4
Oligophrenia Phenylpyruvica
Hyperphenylalaninaemia
Quinoid Dihydropteridine Reductase Deficiency
Atypical PKU
Biopterin Deficiency
Deficiency, Biopterin
Deficiency Disease, Phenylalanine Hydroxylase
Deficiency, Phenylalanine Hydroxylase
DHPR Deficiency
Deficiency Disease, Dihydropteridine Reductase
PKU, Atypical
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To DHPR Deficiency
Atypical Phenylketonuria
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| prefLabel |
Phenylketonurias
|
| TH |
OMIM (2013)
NLM (2000)
NLM (2024)
NLM (2013)
NLM (2010)
GHR (2014)
BIOETHICS (1974)
NLM (2011)
ORD (2010)
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| notation |
D010661
|
| DX |
20000101
|
| Machine permutation |
2000; see PHENYLKETONURIA 1974-1999
|
| MN |
C18.452.648.189.687
C18.452.648.100.766
C16.320.565.189.687
C18.452.132.100.687
C16.320.565.100.766
C10.228.140.163.100.687
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| FX |
D010651
D004093
|
| MMR |
20230226
|
| Mapped from | |
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
|
| HN |
2000(1974)
|
| subClassOf | |
| Semantic type UMLS property | |
| DC |
1
|
| MDA |
19990101
|
| Inverse of RO | |
| type | |
| tui |
T047
|
| cui |
C0751436
C0751435
C0031485
C0268465
C0751434
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| Inverse of AQ |
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| TERMUI |
T751087
T369905
T369914
T369910
T843545
T369906
T817105
T369908
T817103
T031507
T369912
T817104
T369909
T369902
T843546
T369911
T843543
T369903
T812221
T001125182
T369915
T842575
T369907
T817106
T769840
T842578
T369904
T369913
T817107
T812218
T843544
T364716
T769839
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