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Disease Synonyms Description Articles Phenotypes
17-beta hydroxysteroid dehydrogenase 3 deficiency
17-beta-hydroxysteroid dehydrogenase 3 deficiency;.. [+]
A pseudohermaphroditism characterized by undermasc..[+]
2-aminoadipic 2-oxoadipic aciduria
alpha-aminoadipic aciduria; AMOXAD;
An amino acid metabolic disorder characterized by ..[+]
2-hydroxyglutaric aciduria
An amino acid metabolic disorder that is an autoso..[+]
3-M syndrome
gloomy face syndrome; Le Merrer syndrome; three M .. [+]
A syndrome characterized by dwarfism, facial dysmo..[+]
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-hydroxy-3-methylglutaryl-coenzyme A lyase defici.. [+]
An amino acid metabolic disorder characterized by ..[+]
3-hydroxyisobutryl-CoA hydrolase deficiency
HIBCH deficiency; Methacrylic aciduria; Valine met.. [+]
An amino acid metabolic disorder characterized by ..[+]
3-methylcrotonyl-CoA carboxylase 1 deficiency
A 3-Methylcrotonyl-CoA carboxylase deficiency that..[+]
3-methylcrotonyl-CoA carboxylase 2 deficiency
A 3-Methylcrotonyl-CoA carboxylase deficiency that..[+]
3-methylcrotonyl-CoA carboxylase deficiency
3MCC deficiency; BMCC deficiency; 3-Methylcrotonyl.. [+]
An amino acid metabolic disorder that is classifie..[+]
3-methylglutaconic aciduria
An organic acidemia that is characterized by eleva..[+]
3-methylglutaconic aciduria type 1
3MG-CoA hydratase deficiency; 3-methylglutaconic a.. [+]
A 3-methylglutaconic aciduria that has_material_ba..[+]
3-methylglutaconic aciduria type 3
3-methylglutaconic aciduria type III; autosomal re.. [+]
A 3-methylglutaconic aciduria that has_material_ba..[+]
3-methylglutaconic aciduria type 4
MGA type IV; MGA4; MGCA4; 3-methylglutaconic acidu.. [+]
A 3-methylglutaconic aciduria that is characterize..[+]
3-methylglutaconic aciduria type 5
3-methylglutaconic aciduria type V; DCMA syndrome;.. [+]
A 3-methylglutaconic aciduria that has_material_ba..[+]
3-methylglutaconic aciduria type 7a
A 3-methylglutaconic aciduria that is characterize..[+]
3-methylglutaconic aciduria type 7b
A 3-methylglutaconic aciduria that has_material_ba..[+]
3-methylglutaconic aciduria type 8
3-methylglutaconic aciduria type VIII, MGCA8;
A 3-methylglutaconic aciduria that has_material_ba..[+]
3-methylglutaconic aciduria type 9
3-methylglutaconic acuduria type IX, MGCA9;
A 3-methylglutaconic aciduria that has_material_ba..[+]
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
3-methylglutaconic aciduria type 7; 3-methylglutac.. [+]
A 3-methylglutaconic aciduria that has_material_ba..[+]
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
3-methylglutaconic aciduria type 6; MEGDEL; MGCA6;.. [+]
A 3-methylglutaconic aciduria that has_material_ba..[+]

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