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Ontology Browser

Parent Terms Term With Siblings Child Terms
2-hydroxyglutaric aciduria +   
adrenoleukodystrophy +   
Asparagine Synthetase Deficiency  
branched-chain keto acid dehydrogenase kinase deficiency  
childhood onset GLUT1 deficiency syndrome 2  
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 
congenital disorder of glycosylation +   
congenital lactase deficiency  
congenital sucrase-isomaltase deficiency  
creatine transporter deficiency  
CST3-related cerebral amyloid angiopathy +   
D-glyceric aciduria  
Encephalopathy, Spastic Tetraparesis, and Hypogonadism 
Fructose and Galactose Intolerance 
Fructose Metabolism, Inborn Errors +   
fructose-1,6-bisphosphatase deficiency +   
galactosemia +   
A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This condition may be associated with deficiencies of GALACTOKINASE; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; or UDPGLUCOSE 4-EPIMERASE. The classic form is caused by UDPglucose-Hexose-1-Phosphate Uridylyltransferase deficiency, and presents in infancy with FAILURE TO THRIVE; VOMITING; and INTRACRANIAL HYPERTENSION. Affected individuals also may develop MENTAL RETARDATION; JAUNDICE; hepatosplenomegaly; ovarian failure (PRIMARY OVARIAN INSUFFICIENCY); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3)
Glucose-Galactose Malabsorption  
glucosephosphate dehydrogenase deficiency +   
GLUT1 Deficiency Syndrome  
glycerol kinase deficiency  
glycine encephalopathy +   
glycogen metabolism disorder +   
glycoproteinosis +   
Hartnup disease  
Hereditary Central Nervous System Demyelinating Diseases +   
homocystinuria +   
hyperinsulinemic hypoglycemia +   
hyperlysinemia +   
intestinal disaccharidase deficiency 
Lactate Dehydrogenase Deficiency 
lactose intolerance +   
Leigh disease +   
Lesch-Nyhan syndrome +   
Lethal Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 1  
Lysosomal Storage Diseases, Nervous System +   
Mannosidase Deficiency Diseases +   
maple syrup urine disease +   
MELAS syndrome +   
Menkes disease +   
MERRF Syndrome +   
mevalonic aciduria  
Microphthalmia and Mental Deficiency 
mucopolysaccharidosis +   
multiple carboxylase deficiency +   
Myopathy with Storage of Glycoproteins and Glycosaminoglycans 
oculocerebrorenal syndrome +   
Ogden syndrome  
phenylketonuria +   
PHGDH deficiency  
Phosphoenolpyruvate Carboxykinase Deficiency +   
primary hyperoxaluria +   
pyruvate carboxylase deficiency disease +   
pyruvate decarboxylase deficiency +   
Pyruvate Metabolism, Inborn Errors +   
Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression  
Refsum disease +   
Ribose 5-Phosphate Isomerase Deficiency  
Silengo Lerone Pelizza Syndrome 
Storage of Unusual Polysaccharide 
Transaldolase Deficiency  
Trehalase Deficiency  
Tricarboxylic Acid Cycle, Defect of 
triosephosphate isomerase deficiency  
tyrosinemia +   
urea cycle disorder +   
Wilson disease +   
Xylosidase Deficiency 
Zellweger syndrome +   

Exact Synonyms: DEFICIENCY OF UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE ;   Galactosaemia ;   Galactose intolerance ;   UDPGlucose Hexose 1 Phosphate Uridylyltransferase Deficiency ;   UTP Hexose 1 Phosphate Uridylyltransferase Deficiency ;   UTP Hexose 1 Phosphate Uridylyltransferase Deficiency Disease ;   galactosemias
Narrow Synonyms: GALACTOSEMIA, CLASSIC GALACTOSEMIA, DUARTE VARIANT ;   Hereditary Galactokinase Deficiencies ;   Hereditary Galactokinase Deficiency
Primary IDs: MESH:D005693
Alternate IDs: RDO:0001401
Xrefs: GARD:2424 ;   ICD10CM:E74.21 ;   ICD9CM:271.1 ;   NCI:C84723
Definition Sources: MESH:D005693,

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