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CTGA Database Listing
Arab Genomic Studies
Records found: 2746 Sort by:
  • 3-Methylglutaconic Aciduria, Type I
    OMIM # 250950
    MGA, Type I, MGA1, 3-@Methylglutaconyl-CoA Hydratase Deficiency, 3-MG-CoA-Hydratase Deficiency
  • Canavan Disease
    OMIM # 271900
    Canavan-van Bogaert-Bertrand Disease, Spongy Degeneration of Central Nervous System, Aspartoacylase Deficiency, ASPA Deficiency, ASP Deficiency, Aminoacylase 2 Deficiency, ACY2 Deficiency,
  • Propionic Acidemia
    OMIM # 606054
    Propionyl-CoA Carboxylase Deficiency, PCC Deficiency, Glycinemia, Ketotic, Hyperglycinemia with Ketoacidosis and Leukopenia, Ketotic Hyperglycinemia,
  • Methylmalonic Aciduria and Homocystinuria, cblC Type
    OMIM # 277400
    Methylmalonic Acidemia and Homocystinuria, cblC Type, Methylmalonic Aciduria and Homocystinuria, Vitamin B12-Responsive, Vitamin B12 Metabolic Defect with Combined Deficiency of Methylmalonyl-CoA Mutase and Homocysteine:Methyltetrahydrofolate Methyltransferase
  • Isovaleric Acidemia
    OMIM # 243500
    IVA, Isovaleric Acid CoA Dehydrogenase Deficiency, IVD Deficiency
  • Multiple Acyl-CoA Dehydrogenation Deficiency
    OMIM # 231680
    MADD, Glutaric Acidemia II, Glutaric Aciduria II, GA II, Ethylmalonic-Adipicaciduria, EMA, Glutaric Acidemia IIA, ETFA Deficiency, Glutaric Acidemia IIB, ETFB Deficiency, Glutaric Acidemia IIC, ETFDH Deficiency
  • Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
    OMIM # 251000
    Methylmalonic Acidemia due to Methylmalonyl-CoA Mutase Deficiency, MMA due to MCM Deficiency, Methylmalonic Aciduria, mut Type, Methylmalonic Aciduria, mut(0) Type, Methylmalonic Aciduria, mut(-) Type
  • Hyperlysinemia
    OMIM # 238700
    Lysine:Alpha-Ketoglutarate Reductase Deficiency, Alpha-Aminoadipic Semialdehyde Synthase Deficiency, Lysine Intolerance, L-Lysine:NAD-Oxido-Reductase Deficiency
  • Hyperprolinemia, Type I
    OMIM # 239500
    HYPRO1, Proline Oxidase Deficiency
  • Histidinemia
    OMIM # 235800
    Histidine Ammonia-Lyase Deficiency, HAL Deficiency, Histidase Deficiency, HIS Deficiency
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