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CTGA Database Listing
Arab Genomic Studies
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  • 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
  • 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
  • Solute Carrier Family 39 (Zinc Transporter), Member 8
    OMIM # 608732
    SLC39A8, BIGM103, ZIP8
  • Apolipoprotein B
    OMIM # 107730
    APOB, APOB100, APOB48 , Apolipoprotein B-100, Apolipoprotein B48
  • Hypobetalipoproteinemia, Familial, 1
    OMIM # 615558
    FHBL1 , Hypobetalipoproteinemia, Familial, FHBL, Acanthocytosis with Hypobetalipoproteinemia, Hypobetalipoproteinemia, Normotriglyceridemic
  • Infantile Liver Failure Syndrome 2
    OMIM # 616483
    ILFS2
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