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CTGA Database Listing
Arab Genomic Studies
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  • 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
  • Citrullinemia, Classic
    OMIM # 215700
    Citrullinemia, Type I, CTLN1, Citrullinuria, Argininosuccinate Synthetase Deficiency, ASS Deficiency
  • Tyrosinemia, Type I
    OMIM # 276700
    Hepatorenal Tyrosinemia, Fumarylacetoacetase Deficiency, FAH Deficiency, Fumarylacetoacetate Hydrolase, FAH, Fumarylacetoacetase
  • Ornithine Transcarbamylase Deficiency, Hyperammonemia due to
    OMIM # 311250
    Ornithine Carbamoyltransferase Deficiency, OTC Deficiency, Valproate Sensitivity
  • Maple Syrup Urine Disease
    OMIM # 248600
    MSUD, Branched-Chain Ketoaciduria, Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency, BCKD Deficiency, Keto Acid Decarboxylase Deficiency, Maple Syrup Urine Disease, Classic, Maple Syrup Urine Disease, Intermediate, Maple Syrup Urine Disease, Intermittent, Maple Syrup Urine Disease, Thiamine-Responsive, Maple Syrup Urine Disease, E3-Deficient, with Lactic Acidosis, Maple Syrup Urine Disease, Type Ia, MSUD1a, Maple Syrup Urine Disease, Type Ib, MSUD1b, Maple Syrup Urine Disease, Type II, MSUD2, Maple Syrup Urine Disease, Type III, MSUD3, Lipoamide Dehydrogenase Deficiency, Lactic Acidosis due to, Lactic Acidosis, Congenital Infantile, due to LAD Deficiency, Dihydrolipoamide Dehydrogenase Deficiency, DLD Deficiency
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