loading...| Preferred Name |
phenylketonuria |
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| Synonyms |
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| Definitions |
OMIM mapping confirmed by DO. [SN]. An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. |
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| ID |
http://purl.obolibrary.org/obo/DOID_9281 |
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| comment |
OMIM mapping confirmed by DO. [SN]. |
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| definition |
An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. |
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| hasAlternativeId |
DOID:14455 |
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| hasDbXref |
SNOMEDCT_US_2016_03_01:297225000 MESH:D010661 UMLS_CUI:C0031485 SNOMEDCT_US_2016_03_01:190687004 ICD9CM:270.1 SNOMEDCT_US_2016_03_01:154735006 UMLS_CUI:C0085547 MESH:D017042 NCI:C81315 OMIM:261600 |
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| hasExactSynonym |
phenylalaninemia maternal phenylketonuria PKU Følling's disease |
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| hasOBONamespace |
disease_ontology |
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| id |
DOID:9281 |
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| imported from | ||
| label |
phenylketonuria |
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| prefixIRI |
DOID:9281 |
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| prefLabel |
phenylketonuria |
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| subClassOf |
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