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CTGA Database Listing
Arab Genomic Studies
Records found: 2744 Sort by:
  • 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
  • Hyperphenylalaninemia, BH4-Deficient, A
    OMIM # 261640
    HPABH4A, Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, due to PTS Deficiency, 6-Pyruvoyl-Tetrahydropterin synthase deficiency, PTS Deficiency, Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, due to Partial PTS Deficiency
  • Hyperphenylalaninemia, BH4-Deficient, B
    OMIM # 233910
    HPABH4B, Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, due to GTP Cyclohydrolase I Deficiency, GTP Cyclohydrolase I Deficiency, Dystonia, Dopa-Responsive, with or without Hyperphenylalaninemia, Autosomal Recessive
  • Hyperphenylalaninemia, BH4-Deficient, C
    OMIM # 261630
    , HPABH4C, Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, due to DHPR Deficiency, Dihydropteridine Reductase Deficiency, DHPR Deficiency, Quinoid Dihydropteridine Reductase Deficiency, QDPR Deficiency
  • Tyrosinemia, Type II
    OMIM # 276600
    TYRSN2, Richner-Hanhart Syndrome, Tyrosine Aminotransferase Deficiency, TAT Deficiency, Tyrosine Transaminase Deficiency, Keratosis Palmoplantaris with Corneal Dystrophy, Oregon Type Tyrosinemia, Tyrosinosis, Oculocutaneous Type
  • Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
    OMIM # 238970
    HHH Syndrome , HHHS, HHH, Ornithine Translocase Deficiency
  • Homocystinuria Due to Cystathionine Beta-Synthase Deficiency
    OMIM # 236200
    Homocystinuria With or Without Response to Pyridoxine, Cystathionine Beta-Synthase Deficiency, CBS Deficiency, Hyperhomocysteinemia, Thrombotic, CBS-Related
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