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CTGA Database Listing
Arab Genomic Studies
Records found: 2613 Sort by:
  • Schizencephaly
    OMIM # 269160
  • Autoimmune Polyendocrine Syndrome, Type II
    OMIM # 269200
    APS2, Schmidt Syndrome , Diabetes Mellitus, Addison Disease, Myxedema, Polyglandular Autoimmune Syndrome, Type II, PGA II, Polyendocrine Autoimmune Syndrome, Type II, APS II,
  • Schneckenbecken Dysplasia
    OMIM # 269250
    Chondrodysplasia, Lethal Neonatal, with Snail-Like Pelvis
  • Lipodystrophy, Congenital Generalized, Type 2
    OMIM # 269700
    CGL2, Berardinelli-Seip Congenital Lipodystrophy Type 2, Seip Syndrome, Berardinelli Syndrome, Lipodystrophy, Total, and Acromegaloid Gigantism, Congenital Lipoatrophic Diabetes, Lipodystrophy, Berardinelli-Seip Congenital Type 2, Brunzell Syndrome, Brunzell Syndrome, BSCL2-Related
  • SHORT Syndrome
    OMIM # 269880
    Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly, and Teething Delay, Lipodystrophy, Partial, With Rieger Anomaly, and Short Stature
  • Sjogren Syndrome
    OMIM # 270150
    Sicca Syndrome
  • Sjogren-Larsson Syndrome
    OMIM # 270200
    SLS, Ichthyosis, Spastic Neurologic Disorder, and Oligophrenia, Fatty Alcohol:NAD+ Oxidoreductase Deficiency, FAO Deficiency, Fatty Aldehyde Dehydrogenase Deficiency, FALDH Deficiency, Aldehyde Dehydrogenase, Family 3, Subfamily A, Member 2, ALDH3A2, Aldehyde Dehydrogenase 10, ALDH10, Fatty Aldehyde Dehydrogenase , FALDH,
  • Peeling Skin Syndrome
    OMIM # 270300
    PSS, Peeling Skin Syndrome, Type B, Skin Peeling, Familial Continuous Generalized, Keratolysis Exfoliativa Congenita, Deciduous Skin,
  • Smith-Lemli-Opitz Syndrome
    OMIM # 270400
    SLOS, SLO Syndrome, RSH Syndrome, Rutledge Lethal Multiple Congenital Anomaly Syndrome, Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobular Lung, Lethal Acrodysgenital Syndrome
  • Diarrhea 3, Secretory Sodium, Congenital, with or without Other Congenital Anomalies
    OMIM # 270420
    DIAR3, Sodium Diarrhea, Congenital, CSD, Diarrhea 3, Secretory Sodium, Congenital, Syndromic
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