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CTGA Database Listing
Arab Genomic Studies
Records found: 2744 Sort by:
  • 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
  • Phenylketonuria
    OMIM # 261600
    PKU, Phenylalanine Hydroxylase Deficiency, PAH Deficiency, Oligophrenia Phenylpyruvica, Folling Disease, Hyperphenylalaninemia, Non-PKU Mild, HPA, Non-PKU Mild, Phenylketonuria, Maternal
  • Seizures, Scoliosis, and Macrocephaly/Microcephaly Syndrome
    OMIM # 616682
    SSMS
  • Exostosin Glycosyltransferase 2
    OMIM # 608210
    EXT2, Exostosin 2
  • Diabetes Insipidus, Neurohypophyseal Type
    OMIM # 125700
    Diabetes Insipidus, Primary Central, CDI, Diabetes Insipidus, Cranial Type,
  • Arginine Vasopressin
    OMIM # 192340
    AVP, ARVP, Vasopressin-Neurophysin II, Antidiuretic Hormone, ADH, Neurophysin II, NPII,
  • Congenital Disorder of Glycosylation, Type IIn
    OMIM # 616721
    CDG2N, CDG IIn, CDGIIn
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