Parent term(s)
inherited metabolic disorder
+
Term with siblings
carbohydrate metabolic disorder +
aceruloplasminemia
amino acid metabolic disorder
+
aromatic L-amino acid decarboxylase deficiency
bilirubin metabolic disorder
+
cerebral amyloid angiopathy
+
D-glyceric aciduria
dopamine beta-hydroxylase deficiency
familial hypocalciuric hypercalcemia
+
familial visceral amyloidosis
glycerol kinase deficiency
Gordon Holmes syndrome
Greenberg dysplasia
HRPT-related hyperuricemia
hyperphosphatemic familial tumoral calcinosis
immunoglobulin light chain amyloidosis
isolated elevated serum creatine phosphokinase levels
isolated sulfite oxidase deficiency
lipid metabolism disorder
+
lysosomal storage disease
+
metal metabolism disorder
+
mitochondrial metabolism disease
+
multiple acyl-CoA dehydrogenase deficiency
peroxisomal disease
+
phosphoribosylpyrophosphate synthetase superactivity
plasma protein metabolism disease
+
poor metabolism of thiopurines
+
porphyria
+
primary cutaneous amyloidosis
+
purine-pyrimidine metabolic disorder
+
pyrimidine metabolic disorder
+
transthyretin amyloidosis
trimethylaminuria
variant ABeta2M amyloidosis
vitamin metabolic disorder
+
warfarin resistance
warfarin sensitivity
X-linked warfarin sensitivity
Child term(s)
congenital disorder of deglycosylation
+
congenital disorder of glycosylation
+
congenital lactase deficiency
congenital sucrase-isomaltase deficiency
essential fructosuria
fructose-1,6-bisphosphatase deficiency
galactosemia
+
glucose metabolism disease
+
glucosephosphate dehydrogenase deficiency
+
glycogen metabolism disorder
+
hereditary fructose intolerance syndrome
intestinal disaccharidase deficiency
lactose intolerance
multiple carboxylase deficiency
+
primary hyperoxaluria
+
pyruvate carboxylase deficiency disease
pyruvate decarboxylase deficiency
denotes an 'is-a' relationship