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CTGA Database Listing
Arab Genomic Studies
Records found: 2572 Sort by:
  • Crigler-Najjar Syndrome
    OMIM # 218800
    Crigler-Najjar Syndrome, Type I, CN-I, CNS-I, Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency,
  • Glycine Receptor, Alpha-1 Subunit
    OMIM # 138491
    GLRA1
  • Hyperekplexia, Hereditary 1
    OMIM # 149400
    HKPX1, Startle Disease, Familial, Startle Reaction, Exaggerated, Exaggerated Startle Reaction, STHE, Stiff-Baby Syndrome, Stiff-Man Syndrome, Congenital, Stiff-Person Syndrome, Congenital, KOK Disease
  • Ceroid Lipofuscinosis, Neuronal, 3
    OMIM # 204200
    CLN3, Neuronal Ceroid Lipofuscinosis, Juvenile, JNCL, Batten Disease, Vogt-Spielmeyer Disease, Spielmeyer-Sjogren Disease,
  • Hypothyroidism, Congenital, Nongoitrous, 2
    OMIM # 218700
    CHNG2, Thyroid Dysgenesis, Thyroid Agenesis, Thyroid Hypoplasia, Thyroid, Ectopic, Hypothyroidism, Congenital, due to Thyroid Dysgenesis, Hypothyroidism, Athyreotic, Athyreotic Hypothyroidism, Resistance to Thyrotropin, RTSH, Thyrotropin Resistance
  • Extracellular Matrix Protein 1
    OMIM # 602201
    ECM1
  • Lipoid Proteinosis of Urbach and Wiethe
    OMIM # 247100
    Lipoproteinosis, Hyalinosis Cutis et Mucosae, Urbach Wiethe Disease
  • Craniofacial Dyssynostosis with Short Stature
    OMIM # 218350
    Bilateral Lambdoid and Sagittal Synostosis, BLSS
  • Apparent Mineralocorticoid Excess
    OMIM # 218030
    Cortisol 11-Beta-Ketoreductase Deficiency, AME, AME1, 11-@Beta-Hydroxysteroid Dehydrogenase, Type II, HSD11B2, 11-@Beta-HSD, HSD11, Kidney and Placental Type, HSD11K, HSD11, Type II
  • Corpus Callosum, Agenesis of
    OMIM # 217990
    ACC
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