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CTGA Database Listing
Arab Genomic Studies
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  • Surfactant Metabolism Dysfunction, Pulmonary, 3
    OMIM # 610921
    SMDP3, Pulmonary Alveolar Proteinosis, Congenital, 3, Interstitial Lung Disease due to ABCA3 Deficiency
  • Neutropenia, Severe Congenital, 3, Autosomal Recessive
    OMIM # 610738
    SCN3, Kostmann Disease, Agranulocytosis, Infantile,
  • Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
    OMIM # 610706
    Deafness, Congenital, with Labyrinthine Aplasia, Microtia, and Microdontia, Deafness with LAMM
  • Joubert Syndrome 6
    OMIM # 610688
    JBTS6
  • Split-Hand/Foot Malformation with Long Bone Deficiency 2
    OMIM # 610685
    SHFLD2, Cleft Hand and Absent Tibia, Aplasia of Tibia with Ectrodactyly, Ectrodactyly with Aplasia of Long Bones, Tibial Aplasia with Split-Hand/Split Foot Deformity
  • Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
    OMIM # 610549
    Insulin Receptor, Defect in, with Insulin-Resistant Diabetes Mellitus and Acanthosis Nigricans, Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans, Type A, IRAN, Type A,
  • Cone-Rod Synaptic Disorder, Congenital Nonprogressive
    OMIM # 610427
    CRSD, Night Blindness, Congenital Stationary, Type 2B, CSNB2B, Night Blindness, Congenital Stationary, Incomplete, Autosomal Recessive,
  • Aicardi-Goutieres Syndrome 3
    OMIM # 610329
    AGS3
  • Deafness, Autosomal Recessive 67
    OMIM # 610265
    DFNB67
  • Kleefstra Syndrome
    OMIM # 610253
    Chromosome 9q34.3 Deletion Syndrome, 9q- Syndrome, 9q Subtelomeric Deletion Syndrome,
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