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loading...| Preferred Name |
Classical Phenylketonuria |
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| Synonyms |
Classical Phenylketonuria Phenylalanine Hydroxylase Deficiency CPKU |
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| Definitions |
A genetic disorder caused by a mutation in the gene that encodes the enzyme phenylalanine hydroxylase, resulting in a severe form of phenylketonuria. |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C117117 |
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| code |
C117117 |
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| Concept_In_Subset | ||
| Contributing_Source |
NICHD |
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| DEFINITION |
A genetic disorder caused by a mutation in the gene that encodes the enzyme phenylalanine hydroxylase, resulting in a severe form of phenylketonuria. |
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| FULL_SYN |
Classical Phenylketonuria Phenylalanine Hydroxylase Deficiency CPKU |
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| label |
Classical Phenylketonuria |
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| Preferred_Name |
Classical Phenylketonuria |
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| prefixIRI |
Thesaurus:C117117 |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0751434 |
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| subClassOf |
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