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CTGA Database Listing
Arab Genomic Studies
Records found: 2612 Sort by:
  • Spondyloepimetaphyseal Dysplasia with Joint Laxity
    OMIM # 271640
    SEMDJL1, SEMDJL
  • Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
    OMIM # 271665
    SMED, Short Limb-Hand Type, SMED, Type II, Spondylometaepiphyseal Dysplasia, Short Limb-Abnormal Calcification Type, SMED, Short Limb-Abnormal Calcification Type,
  • Canavan Disease
    OMIM # 271900
    Canavan-van Bogaert-Bertrand Disease, Spongy Degeneration of Central Nervous System, Aspartoacylase Deficiency, ASPA Deficiency, ASP Deficiency, Aminoacylase 2 Deficiency, ACY2 Deficiency,
  • Sulfocysteinuria
    OMIM # 272300
    Sulfite Oxidase Deficiency
  • Cold-Induced Sweating Syndrome 1
    OMIM # 272430
    CISS1, Crisponi Syndrome, Sohar-Crisponi Syndrome, Muscle Contractions, Tetanoform, with Characteristic Face, Camptodactyly, Hyperthermia, and Sudden Death
  • Testicular Tumors
    OMIM # 273300
    Testicular Germ Cell Tumor, TGCT, Teratoma, Testicular, Seminoma, Germ Cell Tumor, GCT, Male Germ Cell Tumor, MGCT
  • Tetra-Amelia, Autosomal Recessive
    OMIM # 273395
    TETAMS, Autosomal Recessive Tetra-Amelia, Autosomal Recessive Tetraamelia,
  • Three M Syndrome 1
    OMIM # 273750
    3M1, 3M Syndrome, Le Merrer Syndrome, Dolichospondylic Dysplasia, Gloomy Face Syndrome
  • Glanzmann Thrombasthenia
    OMIM # 273800
    GT, Bleeding Disorder, Platelet-Type, 2, BDPLT2, Thrombasthenia of Glanzmann and Naegeli, Platelet Glycoprotein IIb-IIIa Deficiency, GP IIb-IIIa Complex, Deficiency of, Platelet Fibrinogen Receptor, Deficiency of, Glycoprotein Complex IIb-IIIa, Deficiency of
  • Thrombotic Thrombocytopenic Purpura, Congenital
    OMIM # 274150
    TTP, Microangiopathic Hemolytic Anemia, Thrombotic Microangiopathy, Familial, Upshaw-Schulman Syndrome, USS, Schulman-Upshaw Syndrome, Upshaw Factor, Deficiency of, Microangiopathic Hemolytic Anemia, Congenital, Thrombotic Thrombocytopenic Purpura, Familial
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