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Pathways
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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
2-aminoadipic 2-oxoadipic aciduria pathway  
3-hydroxy-3-methylglutaryl-CoA lyase deficiency pathway  
3-hydroxyisobutyric aciduria pathway  
AGAT deficiency pathway  
alkaptonuria pathway  
aromatic L-amino acid decarboxylase deficiency pathway  
carnosinemia pathway  
dimethylglycine dehydrogenase deficiency pathway  
GABA aminotransferase deficiency pathway  
glutaric aciduria type I pathway  
glutathione synthase deficiency pathway  
glutathionuria disease pathway  
glycine N-methyltransferase deficiency pathway  
hawkinsinuria pathway  
histidinemia pathway  
homocarnosinosis pathway  
hyperhomocysteinemia pathway +   
hyperlysinemia pathway +   
hypermethioninemia pathway  
hypermethioninemia pathway  
hyperprolinemia type I pathway  
hyperprolinemia type II pathway  
inborn error of urea cycle pathway +   
isobutyryl-CoA dehydrogenase deficiency pathway  
isovaleric acidemia pathway  
lysinuric protein intolerance pathway  
maple syrup urine disease pathway  
mercaptolactate-cysteine disulfiduria pathway  
methylmalonate semialdehyde dehydrogenase deficiency pathway  
methylmalonic acidemia pathway +   
multiple carboxylase deficiency pathway +   
nonketotic hyperglycinemia pathway  
ornithine carbamoyltransferase deficiency pathway  
phenylketonuria pathway  
prolidase deficiency pathway  
A rare autosomal recessive disorder resulting from alterations in collagen metabolism and due to defects in the prolidase PEPD gene. The condition is manifested in skin ulcers and mental retardation.
propionic acidemia pathway  
sarcosinemia pathway  
succinic semialdehyde dehydrogenase deficiency pathway  
sulfite oxidase deficiency pathway  
tyrosinemia pathway +   

Synonyms
Related Synonyms: SMP:00207
Definition Sources: MeSH:D056732, OMIM:170100

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