Parent term(s)
inherited metabolic disorder
+
Term with siblings
plasma protein metabolism disease +
aceruloplasminemia
amino acid metabolic disorder
+
aromatic L-amino acid decarboxylase deficiency
bilirubin metabolic disorder
+
carbohydrate 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
porphyria
+
primary cutaneous amyloidosis
+
purine-pyrimidine metabolic disorder
+
pyrimidine metabolic disorder
+
thiopurine S-methyltransferase deficiency
transthyretin amyloidosis
trimethylaminuria
variant ABeta2M amyloidosis
vitamin metabolic disorder
+
warfarin resistance
warfarin sensitivity
X-linked warfarin sensitivity
Child term(s)
alpha 1-antitrypsin deficiency
carboxypeptidase N deficiency
macroglobulinemia
monoclonal paraproteinemia
polyclonal hypergammaglobulinemia
denotes an 'is-a' relationship