loading...| Preferred Name |
Hyperphenylalaninemia, BH4-deficient C |
|
| Synonyms |
Dihydropteridine Reductase Deficiency Hyperphenylalaninemia, BH4-deficient C HPABH4C |
|
| 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. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C138173 |
|
| code |
C138173 |
|
| Concept_In_Subset | ||
| Contributing_Source |
Cellosaurus |
|
| 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. |
|
| FULL_SYN |
Dihydropteridine Reductase Deficiency Hyperphenylalaninemia, BH4-deficient C HPABH4C |
|
| label |
Hyperphenylalaninemia, BH4-deficient C |
|
| Preferred_Name |
Hyperphenylalaninemia, BH4-deficient C |
|
| prefixIRI |
Thesaurus:C138173 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0268465 |
|
| 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://purl.obolibrary.org/obo/OMIM_261630 | CCO | LOOM | |
| http://purl.obolibrary.org/obo/NCIT_C138173 | BERO | LOOM |