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Term:
inborn error of brain metabolic pathway
(PW:0001646)
Annotations:
Rat: (319)
Mouse: (319)
Human: (322)
Chinchilla: (305)
Bonobo: (316)
Dog: (316)
Squirrel: (311)
Pig: (319)
Parent Terms
Term With Siblings
Child Terms
brain disease pathway
+
inborn error of metabolism pathway
+
3-hydroxyacyl-CoA dehydrogenase deficiency pathway
3-methylglutaconic aciduria type 1 pathway
3-methylglutaconic aciduria type 3 pathway
adenine phoshoribosyltransferase deficiency pathway
AICA-ribosuria pathway
beta-ureidopropionase deficiency pathway
fumaric aciduria pathway
glutaric aciduria type I pathway
inborn error amino acid transport disorder pathway
+
inborn error of amino acid metabolism pathway
+
inborn error of brain metabolic pathway
+
Those brain diseases that are caused by inborn metabolic errors. The mutations can disrupt one or several pathways.
inborn error of carbohydrate metabolism pathway
+
inborn error of lipid metabolism pathway
+
inborn error of metal metabolism pathway
+
inborn error of purine-pyrimidine metabolism pathway
+
inborn error of renal tubular transport pathway
+
inborn error of steroid metabolism pathway
+
leukotriene C4 synthase deficiency pathway
lysosomal storage disease pathway
+
malonic aciduria pathway
porphyria pathway
+
Tay-Sachs disease pathway
Zellweger syndrome pathway
2-hydroxyglutaric aciduria pathway
adrenoleukodystrophy pathway
Canavan disease pathway
carnosinemia pathway
ethylmalonic encephalopathy pathway
galactosemias pathway
+
Hartnup disease pathway
hereditary central nervous system demyelinating disease pathway
+
homocarnosinosis pathway
hyperlysinemia pathway
+
inborn error of urea cycle pathway
+
Leigh disease pathway
Lesch-Nyhan syndrome pathway
maple syrup urine disease pathway
mevalonic aciduria pathway
nervous system lysosomal storage disease pathway
+
nonketotic hyperglycinemia pathway
phenylketonuria pathway
Refsum disease pathway
tyrosinemia pathway
+
Synonyms
Exact Synonyms:
inborn error of brain metabolic disease pathway
Definition Sources:
MeSH:D020739