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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
2-aminoadipic 2-oxoadipic aciduria  
2-hydroxyglutaric aciduria +   
2-Methylacetoacetyl CoA Thiolase Deficiency 
2-Methylbutyryl-CoA Dehydrogenase Deficiency  
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency  
3-Hydroxyisobutyric Aciduria 
5-Oxoprolinase Deficiency  
Adams Nance Syndrome 
adenine phosphoribosyltransferase deficiency  
adenylosuccinase lyase deficiency  
adrenoleukodystrophy +   
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Albinism +   
alkaptonuria +   
Alpha-Ketoglutarate Dehydrogenase Deficiency  
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
Aminoacylase 1 Deficiency  
Arakawa Syndrome 2  
argininosuccinic aciduria  
aromatic L-amino acid decarboxylase deficiency  
Asparagine Synthetase Deficiency  
Beta-Aminoisobutyric Acid, Urinary Excretion of  
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency  
beta-ketothiolase deficiency  
BH4-deficient hyperphenylalaninemia A  
Blue Diaper Syndrome 
branched-chain keto acid dehydrogenase kinase deficiency  
Brunner syndrome  
Camptodactyly Taurinuria 
carboxypeptidase N deficiency  
cerebral creatine deficiency syndrome +   
creatine transporter deficiency  
CST3-related cerebral amyloid angiopathy +   
cystathioninuria  
Cysteine Peptiduria 
cystinuria +   
Defect of Tricarboxylic Acid Cycle 
Diaminopentanuria 
Dibasic Amino Aciduria I 
dicarboxylic aminoaciduria  
Dimethylglycine Dehydrogenase Deficiency  
encephalopathy due to defective mitochondrial and peroxisomal fission 1  
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2  
Encephalopathy, Spastic Tetraparesis, and Hypogonadism 
fumarase deficiency  
GABA aminotransferase deficiency  
galactosemia +   
gamma-amino butyric acid metabolism disorder +   
gamma-glutamyl transpeptidase deficiency  
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine  
Glucoglycinuria  
Glutamate Monosodium Sensitivity 
glutamate-cysteine ligase deficiency  
Glutamine Deficiency, Congenital  
Glutaric Aciduria +   
glutathione synthetase deficiency  
glycine encephalopathy +   
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE  
Glycinuria with or without Oxalate Urolithiasis  
Hartnup disease  
Hereditary Central Nervous System Demyelinating Diseases +   
histidine metabolism disease +   
histidinemia  
homocarnosinosis  
homocystinuria +   
Hydroxykynureninuria  
Hydroxyprolinemia 
hyperhomocysteinemia +   
Hyperleucine-Isoleucinemia 
hyperlysinemia +   
hypermethioninemia +   
hyperprolinemia +   
Hypertaurinuric Cardiomyopathy 
Hypertryptophanemia +   
Ichthyosis, Split Hairs, and Amino Aciduria 
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
Indolylacroyl Glycinuria with Mental Retardation 
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
Isobutyryl-CoA Dehydrogenase Deficiency  
isolated sulfite oxidase deficiency  
isovaleric acidemia  
Ketoadipicaciduria 
Leigh disease +   
Lesch-Nyhan syndrome +   
Lysine Malabsorption Syndrome 
lysinuric protein intolerance  
Lysosomal Storage Diseases, Nervous System +   
Maleylacetoacetate Isomerase Deficiency  
maple syrup urine disease +   
MELAS syndrome +   
Menkes disease +   
Mercaptolactate-Cysteine Disulfiduria 
MERRF Syndrome +   
Methionine Malabsorption Syndrome 
Methylmalonate Semialdehyde Dehydrogenase Deficiency  
methylmalonic acidemia +   
Methylmalonyl-CoA Epimerase Deficiency +   
mevalonic aciduria  
Microphthalmia and Mental Deficiency 
Mitochondrial Complex I Deficiency, Nuclear Type 20  
mitochondrial DNA depletion syndrome 5  
multiple acyl-CoA dehydrogenase deficiency +   
multiple carboxylase deficiency +   
Myopathy due to Malate-Aspartate Shuttle Defect 
N-Acetylaspartate Deficiency  
oculocerebrorenal syndrome +   
organic acidemia +   
ornithine translocase deficiency  
pentosuria  
phenylketonuria +   
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). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).
prolidase deficiency  
propionic acidemia +   
pyruvate carboxylase deficiency disease +   
pyruvate decarboxylase deficiency +   
Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression  
Refsum disease +   
Richards-Rundle Syndrome 
Sarcosinemia  
serine deficiency +   
Silengo Lerone Pelizza Syndrome 
succinic semialdehyde dehydrogenase deficiency  
systemic primary carnitine deficiency disease  
Tiglic Acidemia 
Tryptophanuria with Dwarfism 
tyrosinemia +   
Tyrosinosis 
urea cycle disorder +   
Urocanase Deficiency  
Valinemia +   
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2  
Wilson disease +   
Zellweger syndrome +   

Synonyms
Exact Synonyms: BH4 Deficiency ;   Classical Phenylketonuria ;   Folling Disease ;   Folling's disease ;   Hyperphenylalaninaemia ;   Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism ;   Hyperphenylalaninemia, non-pku ;   Non Phenylketonuric Hyperphenylalaninemia ;   Non-Phenylketonuric Hyperphenylalaninemias ;   Oligophrenia Phenylpyruvica ;   PAH Deficiency ;   PKU ;   Phenylalanine Hydroxylase Deficiency ;   Phenylalanine Hydroxylase Deficiency Disease ;   Phenylalanine Hydroxylase Deficiency Disease, Severe ;   Phenylketonuria I ;   atypical PKU ;   atypical phenylketonuria ;   phenylalaninemia ;   phenylketonuria II ;   phenylketonuria type 2 ;   phenylketonurias ;   tetrahydrobiopterin deficiency
Narrow Synonyms: BH4-DEFICIENT HYPERPHENYLALANINEMIA ;   HPA, NON-PKU MILD ;   HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT ;   HYPERPHENYLALANINEMIA, NON-PKU MILD ;   maternal phenylketonuria
Primary IDs: MESH:D010661
Alternate IDs: OMIM:261600
Xrefs: GARD:7383 ;   ICD9CM:270.1 ;   NCI:C81315 ;   ORDO:716
Definition Sources: http://en.wikipedia.org/wiki/Phenylketonuria "DO", MESH:D010661

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.