loading...| Preferred Name |
Phenylketonurias [Disease/Finding] |
|
| Synonyms |
|
|
| ID |
http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002389 |
|
| code |
C4956 |
|
| Display_Name |
Phenylketonurias |
|
| imported from | ||
| label |
Phenylketonurias [Disease/Finding] |
|
| MeSH_CUI |
M0016567 |
|
| MeSH_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). |
|
| MeSH_DUI |
D010661 |
|
| MeSH_Name |
Phenylketonurias |
|
| NUI |
N0000002389 |
|
| prefixIRI |
NDF-RT:N0000002389 |
|
| prefLabel |
Phenylketonurias [Disease/Finding] |
|
| RxNorm_CUI |
1023735 |
|
| Synonym |
Phenylketonuria |
|
| UMLS_CUI |
C0031485 |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002389 | CIDO | SAME_URI | |
| http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002389 | CIDO | LOOM | |
| http://purl.bioontology.org/ontology/NDFRT/N0000002389 | NDFRT | LOOM |