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CTGA Database Listing
Arab Genomic Studies
Records found: 2512 Sort by:
  • Pfeiffer Syndrome
    OMIM # 101600
    Acrocephalosyndactyly, Type V, ACS5, ACS V, Noack Syndrome, Craniofacial-Skeletal-Dermatologic Dysplasia
  • Saethre-Chotzen Syndrome
    OMIM # 101400
    SCS, Acrocephalosyndactyly, Type III, ACS3, ACS III, Chotzen Syndrome, Acrocephaly, Skull Asymmetry, and Mild Syndactyly, Saethre-Chotzen Syndrome with Eyelid Anomalies, Blepharophimosis, Epicanthus Inversus, and Ptosis 3, BPES3,
  • Apert Syndrome
    OMIM # 101200
    Acrocephalosyndactyly, Type I , ACS1, ACS I
  • Epilepsy, Nocturnal Frontal Lobe, 1
    OMIM # 600513
    ENFL1, Autosomal Dominant Nocturnal Frontal Lobe Epilepsy, ADNFLE,
  • Enterocolitis
    OMIM # 226150
    Necrotizing Enterocolitis
  • Neurofibromatosis, Type II
    OMIM # 101000
    NF2, Neurofibromatosis, Central Type, Acoustic Schwannomas, Bilateral, Bilateral Acoustic Neurofibromatosis, BANF, Acoustic Neurinoma, Bilateral, ACN
  • Ectodermal Dysplasia 8, Hair/Tooth/Nail Type
    OMIM # 602401
    ECTD8, Fried's Tooth and Nail Syndrome,
  • Ectodermal Dysplasia and Neurosensory Deafness
    OMIM # 224800
  • Clouston Syndrome
    OMIM # 129500
    Ectodermal Dysplasia 2, Closuton Type, ECTD2, Ectodermal Dysplasia, Hidrotic, Autosomal Dominant, Closutin Hidrotic Ectodermal Dysplasia, Ectodermal Dysplasia, Hidrotic, 2, HED2,
  • Gap Junction Protein, Beta-6
    OMIM # 604418
    GJB6, Connexin 30, CX30,
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