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CTGA Database Listing
Arab Genomic Studies
Records found: 2512 Sort by:
  • Carnitine Deficiency, Systemic Primary
    OMIM # 212140
    CDSP, Systemic Carnitine Deficiency, SCD, Carnitine Deficiency, Systemic, Due To Defect In Renal Reabsorption Of Carnitine, Carnitine Deficiency, Primary, Carnitine Transporter, Plasma-Membrane, Deficiency Of, Carnitine Uptake Defect, CUD
  • Charcot-Marie-Tooth Disease, Type 4A
    OMIM # 214400
    CMT4A, Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4A, Charcot-Marie-Tooth Neuropathy, Type 4A
  • Cohen Syndrome
    OMIM # 216550
    COH1, CHH1, Hypotonia Obesity and Prominent Incisors, Pepper Syndrome, CHS1
  • Dyggve-Melchior-Clausen Disease
    OMIM # 223800
    DMC
  • Epidermolysis Bullosa, Junctional, Herlitz Type
    OMIM # 226700
    Epidermolysis Bullosa Junctionalis, Herlitz Type, JEB-Herlitz Type, Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type, Herlitz-Pearson-Type Epidermolysis Bullosa, Epidermolysis Bullosa Letalis
  • Fibrochondrogenesis 1
    OMIM # 228520
    FBCG1
  • Homocystinuria Due to Cystathionine Beta-Synthase Deficiency
    OMIM # 236200
    Homocystinuria With or Without Response to Pyridoxine, Cystathionine Beta-Synthase Deficiency, CBS Deficiency, Hyperhomocysteinemia, Thrombotic, CBS-Related
  • L-2-Hydroxyglutaric Aciduria
    OMIM # 236792
    L-2-Hydroxyglutaricacidemia, L-2-Hydroxyglutaric Acidemia, L-2-hydroxyglutaricaciduria, D-2-hydroxyglutaricaciduria, L-2-HGA,
  • Hyperlipoproteinemia, Type I
    OMIM # 238600
    Lipoprotein Lipase Deficiency, LPL Deficiency, Hyperchylomicronemia, Familial, Hyperlipemia, Idiopathic, Burger-Grutz Type, Hyperlipemia, Essential Familial, Lipase D Deficiency, LipD Deficiency, Hyperlipoproteinemia, Type Ia, Chylomicronemia, Familial, Apolipoprotein C-II Deficiency
  • Beckwith-Wiedemann Syndrome
    OMIM # 130650
    BWS, EMG Syndrome, Exomphalos-Macroglossia-Gigantism Syndrome, Wiedemann-Beckwith Syndrome, WBS, Beckwith-Wiedemann Syndrome Chromosome Region, BWCR
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