Phenylketonuria - CaLiGraph

Property	Value
rdf:type	Disorder included in newborn screening programs ICD-9 code 240–279: endocrine, nutritional and metabolic diseases, and immunity disorders owl:NamedIndividual Rare disease Skin condition Amino acid metabolism disorder Autosomal recessive disorder Disorder causing seizures MeSH code (C10) MeSH code (C16) MeSH code (C18) Skin condition resulting from errors in metabolism Genetic disorder
rdfs:label	Phenylketonuria
owl:sameAs	dbr:Phenylketonuria
prov:wasDerivedFrom	http://en.wikipedia.org/wiki/Medical_genetics_of_Jews http://en.wikipedia.org/wiki/Microcephaly http://en.wikipedia.org/wiki/Inborn_errors_of_metabolism http://en.wikipedia.org/wiki/Mendelian_traits_in_humans http://en.wikipedia.org/wiki/Causes_of_autism http://en.wikipedia.org/wiki/Category:Rare_diseases http://en.wikipedia.org/wiki/List_of_diseases_(P) http://en.wikipedia.org/wiki/List_of_skin_conditions http://en.wikipedia.org/wiki/List_of_genetic_disorders http://en.wikipedia.org/wiki/Evolutionary_medicine http://en.wikipedia.org/wiki/Tourettism http://en.wikipedia.org/wiki/List_of_ICD-9_codes_240%E2%80%93279:_endocrine,_nutritional_and_metabolic_diseases,_and_immunity_disorders http://en.wikipedia.org/wiki/List_of_disorders_included_in_newborn_screening_programs http://en.wikipedia.org/wiki/Neonatal_heel_prick http://en.wikipedia.org/wiki/Compound_heterozygosity http://en.wikipedia.org/wiki/Hypopigmentation http://en.wikipedia.org/wiki/Gene%E2%80%93environment_interaction http://en.wikipedia.org/wiki/List_of_MeSH_codes_(C10) http://en.wikipedia.org/wiki/List_of_MeSH_codes_(C16) http://en.wikipedia.org/wiki/Prescription_charges http://en.wikipedia.org/wiki/Category:Amino_acid_metabolism_disorders http://en.wikipedia.org/wiki/Category:Autosomal_recessive_disorders http://en.wikipedia.org/wiki/Category:Disorders_causing_seizures http://en.wikipedia.org/wiki/Developmental_toxicity http://en.wikipedia.org/wiki/List_of_MeSH_codes_(C18) http://en.wikipedia.org/wiki/Outline_of_childhood http://en.wikipedia.org/wiki/Chromosome_12 http://en.wikipedia.org/wiki/Outline_of_biochemistry http://en.wikipedia.org/wiki/Category:Skin_conditions_resulting_from_errors_in_metabolism http://en.wikipedia.org/wiki/Genetic_disorder http://en.wikipedia.org/wiki/Mental_disorders_diagnosed_in_childhood
skos:prefLabel	Phenylketonuria
skos:altLabel	Cerebral palsy '''P'''henyl'''k'''eton'''u'''ria individuals unable to hydroxylate phenylalanine to tyrosine PKU PKU test Phenylketonuria (PKU) Phenylketonuria#Diet Phenylketonuria#Maternal phenylketonuria Phenylketonuric embryopathy Phenylketonurics Sickle-cell disease Syphilis phenylketonuria phenylketonuria (PKU) phenylketonurias phenylketonurics phenylketouria Phenylketonuria#Tetrahydrobiopterin-deficient hyperphenylalaninemia
clgo:diseasesDB	9987
clgo:eMedicineSubject	ped
clgo:eMedicineTopic	1787
clgo:geneReviewsId	NBK1504
clgo:geneReviewsName	Phenylalanine Hydroxylase Deficiency
clgo:icd10	, E70.1 E70.0
clgo:icd9	270.1
clgo:medicalCause	Genetics
clgo:medicalDiagnosis	Newborn screening
clgo:medication	Pegvaliase Tetrahydrobiopterin
clgo:medlinePlus	001166
clgo:meshId	D010661
clgo:omim	261600
clgo:orpha	716
clgo:symptom	Mental disorder Intellectual disability Seizure
clgo:treatment	Diet (nutrition)
is clgo:knownFor of	Bluma Tischler Robert Guthrie

About: clgr:Phenylketonuria