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loading...| Preferred Name |
Phenylketonurias |
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| Synonyms |
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| Definitions |
A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme phenylalanine hydroxylase, or less frequently by reduced activity of dihydropteridine reductase (i.e., atypical phenylketonuria). |
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| ID |
http://cbmi.med.harvard.edu/asdphenotype#Class_112 |
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| definition |
A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme phenylalanine hydroxylase, or less frequently by reduced activity of dihydropteridine reductase (i.e., atypical phenylketonuria). |
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| label |
Phenylketonurias |
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| prefixIRI |
asd:Class_112 |
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| prefLabel |
Phenylketonurias |
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