loading...| Preferred Name |
Hyperphenylalaninemia, BH4-deficient C |
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| Synonyms |
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| Definitions |
An autosomal recessive condition caused by mutation(s) in the QDPR gene, encoding dihydropteridine reductase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C138173 |
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| code |
C138173 |
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| Contributing_Source |
Cellosaurus |
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| definition |
An autosomal recessive condition caused by mutation(s) in the QDPR gene, encoding dihydropteridine reductase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits. |
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| in_subset | ||
| label |
Hyperphenylalaninemia, BH4-deficient C |
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| Preferred_Name |
Hyperphenylalaninemia, BH4-deficient C |
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| prefixIRI |
NCIT:C138173 |
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| prefLabel |
Hyperphenylalaninemia, BH4-deficient C |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0268465 |
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| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://identifiers.org/omim/261630 | REXO | LOOM | |
| http://identifiers.org/omim/261630 | GEXO | LOOM | |
| http://identifiers.org/omim/261630 | RETO | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/261630 | OMIM | LOOM | |
| http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C138173 | NCIT | LOOM | |
| http://purl.obolibrary.org/obo/OMIM_261630 | CCO | LOOM |