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CTGA Database Listing
Arab Genomic Studies
Records found: 2872 Sort by:
  • Cardiomyopathy, Familial Hypertrophic 7
    OMIM # 613690
    CMH7
  • Troponin I, Cardiac
    OMIM # 191044
    TNNI3, Troponin I, Cardiac Muscle Isoform
  • Nijmegen Breakage Syndrome
    OMIM # 251260
    NBS, Ataxia-Telangiectasia Variant V1, AT-V1, Microcephaly with Normal Intelligence, Immunodeficiency, and Lymphoreticular Malignancies, Seemanova Syndrome II, Nonsyndromal Microcephaly, Autosomal Recessive, with Normal Intelligence, Immunodeficiency, Microcephaly, and Chromosomal Instability, Berlin Breakage Syndrome, BBS, Ataxia-Telangiectasia Variant V2, AT-V2,
  • Desbuquois Syndrome
    OMIM # 251450
    DBQD, Micromelic Dwarfism with Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification, Desbuquois Dysplasia
  • Moyamoya Disease 1
    OMIM # 252350
    MYMY1, Moya Moya Disease, MYMY, Spontaneous Occlusion of the Circle of Willis,
  • Mucopolysaccharidosis Type VI
    OMIM # 253200
    MPS VI, MPS6, Maroteaux-Lamy Syndrome, Arylsulfatase B Deficiency, ARSB Deficiency, N-Acetylgalactosamine-4-Sulfatase Deficiency,
  • Mucopolysaccharidosis Type IIIB
    OMIM # 252920
    MPS IIIB, MPS3B, Sanfilippo Syndrome B, N-Acetyl-Alpha-D-Glucosaminidase Deficiency, NAGLU Deficiency, N-Acetylglucosaminidase, Alpha-, NAGLU, N-Acetyl-Alpha-D-Glucosaminidase Polymorphism, NAG Polymorphism,
  • Spinal Muscular Atrophy, Type I
    OMIM # 253300
    SMA I, SMA, Infantile Acute Form, Muscular Atrophy, Infantile, Werdnig-Hoffmann Disease,
  • Myasthenia Gravis
    OMIM # 254200
    MG
  • Nephronophthisis 1
    OMIM # 256100
    NPHP1, Nephronophthisis, Familial Juvenile, NPH1,
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