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loading...| Preferred Name | Classical Phenylketonuria | |
| Synonyms |
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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://purl.obolibrary.org/obo/NCIT_C117117 |
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| code |
C117117 |
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| 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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| in_subset | ||
| label |
Classical Phenylketonuria |
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| Preferred_Name |
Classical Phenylketonuria |
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| prefixIRI |
NCIT:C117117 |
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| prefLabel |
Classical Phenylketonuria |
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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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