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