loading...| Preferred Name |
Phenylketonurias |
|
| Synonyms |
Dihydropteridine Reductase Deficiency Disease Atypical Phenylketonuria |
|
| 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). |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D010661 |
|
| 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 |
|
| 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 |
|
| cui |
C0751436 C0751435 C0031485 C0268465 C0751434 |
|
| DC |
1 |
|
| 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). |
|
| DX |
20000101 |
|
| FX |
D010651 D004093 |
|
| HN |
2000(1974) |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO |
http://purl.bioontology.org/ontology/MESH/D004093 |
|
| Machine permutation |
2000; see PHENYLKETONURIA 1974-1999 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C535325 http://purl.bioontology.org/ontology/MESH/C538382 http://purl.bioontology.org/ontology/MESH/C562656 |
|
| MDA |
19990101 |
|
| MMR |
20230226 |
|
| 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 |
|
| notation |
D010661 |
|
| prefLabel |
Phenylketonurias |
|
| 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 |
|
| TH |
OMIM (2013) NLM (2000) NLM (2024) NLM (2013) NLM (2010) GHR (2014) BIOETHICS (1974) NLM (2011) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |