phenylketonuria
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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phenylketonuria
Summary
phenylketonuria is a designated intractable/rare disease[1]. phenylketonuria draws 2,314 Wikipedia views per month (designated_intractable_rare_disease category, ranking #53 of 201).[2]
Key Facts
- phenylketonuria's instance of is recorded as designated intractable/rare disease[3].
- phenylketonuria's instance of is recorded as rare disease[4].
- phenylketonuria's instance of is recorded as class of disease[5].
- phenylketonuria is a type of enzymopathy[6].
- phenylketonuria is a type of hyperphenylalaninemia[7].
- phenylketonuria is a type of amino acid metabolic disorder[8].
- phenylketonuria is a type of disease[9].
- phenylketonuria's Commons category is recorded as Phenylketonuria[10].
- phenylketonuria's external data available at URL is recorded as http://www.nanbyou.or.jp/entry/4747[11].
- phenylketonuria's ICD-9-CM is recorded as 270.1[12].
- phenylketonuria's NCI Thesaurus ID is recorded as C81315[13].
- phenylketonuria's short name is recorded as {'lang': 'en', 'text': 'PKU'}[14].
- phenylketonuria's short name is recorded as {'lang': 'de', 'text': 'PKU'}[15].
- phenylketonuria's short name is recorded as {'lang': 'el', 'text': 'ΦΚΟ'}[16].
- phenylketonuria's health specialty is recorded as endocrinology[17].
- phenylketonuria's genetic association is recorded as PAH[18].
- phenylketonuria's exact match is recorded as http://purl.obolibrary.org/obo/DOID_9281[19].
- phenylketonuria's exact match is recorded as http://identifiers.org/doid/DOID:9281[20].
- phenylketonuria's exact match is recorded as http://purl.obolibrary.org/obo/MONDO_0009861[21].
- phenylketonuria's on focus list of Wikimedia project is recorded as WikiProject Medicine[22].
Why It Matters
phenylketonuria draws 2,314 Wikipedia views per month (designated_intractable_rare_disease category, ranking #53 of 201).[2] phenylketonuria has Wikipedia articles in 28 language editions, a strong signal of global cultural recognition.[23] phenylketonuria is known by 50 alternative names across languages and contexts.[24]