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CTGA Database Listing
Arab Genomic Studies
Records found: 2176 Sort by:
  • Fanconi-Bickel Syndrome; FBS
    OMIM # 227810
    Hepatorenal Glycogenosis with Renal Fanconi Syndrome, Hepatic Glycogenosis with Fanconi Nephropathy, Hepatic Glycogenosis with Amino Aciduria and Glucosuria, Fanconi Syndrome with Intestinal Malabsorption and Galactose Intolerance, Pseudo-Phlorizin Diabetes, Glycogenosis, Fanconi Type, Glycogen Storage Disease XI,
  • Glycogen Storage Disease Ib; GSD1B
    OMIM # 232220
    GSD Ib, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT,
  • Acyl-CoA Dehydrogenase, Short-Chain, Deficiency of; ACADSD
    OMIM # 201470
    ACADSD , ACADS Deficiency, Lipid-Storage Myopathy Secondary to Short-Chain Acyl-CoA Dehydrogenase Deficiency, SCADH Deficiency, SCAD Deficiency,
  • Methylmalonic Aciduria, cblA Type
    OMIM # 251100
    Methylmalonic Acidemia, cblA Type, Methylmalonic Aciduria, Vitamin B12-Responsive, due to Defect in Synthesis of Adenosylcobalamin, cblA Type,
  • PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; PHGDHD
    OMIM # 601815
  • 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
  • Activin A Receptor, Type II-Like 1
    OMIM # 601284
    ACVRL1, Activin A Receptor, Type II-Like Kinase 1, ACVRLK1, Activin Receptor-Like Kinase 1, ALK1,
  • Athabaskan Brainstem Dysgenesis Syndrome
    OMIM # 601536
    ABDS, Navajo Brainstem Syndrome, Bosley-Salih-Alorainy Syndrome, BSAS
  • Fibrosis of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement
    OMIM # 600638
    CFEOM3A, FEOM3 Locus,
  • HCLS1-Associated Protein X1
    OMIM # 605998
    HAX1
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