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CTGA Database Listing
Arab Genomic Studies
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  • Alagille Syndrome 1
    OMIM # 118450
    ALGS1, Alagille Syndrome, ALGS, Alagille-Watson Syndrome, AWS, Cholestasis with Peripheral Pulmonary Stenosis, Arteriohepatic Dysplasia, AHD, Hepatic Ductular Hypoplasia, Syndromatic
  • Chiari Malformation Type I
    OMIM # 118420
    CM1, Chiari Malformation Type I with Syringomyelia, CM1 with Syringomyelia
  • Cherubism
    OMIM # 118400
    CRBM
  • Cerebrocostomandibular Syndrome
    OMIM # 117650
    CCMS, Rib Gap Defects with Micrognathia,
  • ETHE1 Gene
    OMIM # 608451
    ETHE1, Hepatoma Subtracted Clone One, HSCO, D83198
  • Sotos Syndrome 1
    OMIM # 117550
    SOTOS1, Sotos Syndrome, Cerebral Gigantism, Chromosome 5q35 deletion syndrome
  • Multiple Acyl-CoA Dehydrogenation Deficiency
    OMIM # 231680
    MADD, Glutaric Acidemia II, Glutaric Aciduria II, GA II, Ethylmalonic-Adipicaciduria, EMA, Glutaric Acidemia IIA, ETFA Deficiency, Glutaric Acidemia IIB, ETFB Deficiency, Glutaric Acidemia IIC, ETFDH Deficiency
  • Methyl-CpG Binding Protein 2
    OMIM # 300005
    MECP2
  • Rett Syndrome
    OMIM # 312750
    RTT, Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use, Rett Syndrome, Zappella Variant, Rett Syndrome, Preserved Speech Variant
  • Leukocyte Adhesion Deficiency, Type I
    OMIM # 116920
    LAD, LAD1, Lymphocyte Function-Associated Antigen 1 Immunodeficiency, LFA1 Immunodeficiency
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