loading...| Preferred Name |
classic phenylketonuria |
|
| Synonyms |
severe PKU classic PKU |
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| Definitions |
Classic phenylketonuria is a hyperphenylaninemia that is caused by characterized by blood phenyalalnine concentration greater than 1200 μmol/L (20 mg/dL). Need better def source. Definition source: Scriver, C. R., Sly, W. S., Childs, B., Baudet, A. L., Valle, D., Kinzler, K. W., Vogelstein, B. (2000) The metabolic and molecular bases of inherited metabolic disease, 8th Ed. McGraw-Hill Professional. |
|
| ID |
http://onstr.googlecode.com/svn/tags/currentRelease/2014-09-03/ONSTR.owl#ONSTR_1272933 |
|
| comment |
Need better def source. Definition source: Scriver, C. R., Sly, W. S., Childs, B., Baudet, A. L., Valle, D., Kinzler, K. W., Vogelstein, B. (2000) The metabolic and molecular bases of inherited metabolic disease, 8th Ed. McGraw-Hill Professional. |
|
| altLabel |
severe PKU classic PKU |
|
| definition |
Classic phenylketonuria is a hyperphenylaninemia that is caused by characterized by blood phenyalalnine concentration greater than 1200 μmol/L (20 mg/dL). |
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| editorialNote |
Curation status: Incomplete |
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| label |
classic phenylketonuria |
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| prefixIRI |
ONSTR:ONSTR_1272933 |
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| prefLabel |
classic phenylketonuria |
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| subClassOf |
http://onstr.googlecode.com/svn/tags/currentRelease/2014-09-03/ONSTR.owl#ONSTR_7546388 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0019259 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0019259 | MONDO | LOOM | |
| http://purl.jp/bio/4/id/200906080994852442 | IOBC | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0019259 | DOVES | LOOM | |
| http://www.orpha.net/ORDO/Orphanet_79254 | ORDO | LOOM | |
| http://purl.bioontology.org/ontology/LNC/LA12520-5 | LOINC | LOOM |