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CTGA Database Listing
Arab Genomic Studies
Records found: 2501 Sort by:
  • Dyssegmental Dysplasia, Silverman-Handmaker Type
    OMIM # 224410
    DDSH, Dyssegmental Dwarfism, Silverman-Handmaker Type, Anisospondylic Camptomicromelic Dwarfism, Silverman-Handmaker Type
  • Hypergonadotropic Hypogonadism with Partial Alopecia
    OMIM # 241090
    Al Awadi Farag Teebi Syndrome
  • Hypoplastic Left Heart Syndrome 1
    OMIM # 241550
    HLHS1
  • Alternating Hemiplegia of Childhood 1
    OMIM # 104290
    AHC1
  • Alport Syndrome 3, Autosomal Dominant
    OMIM # 104200
    ATS3
  • Alopecia Areata 1
    OMIM # 104000
    AA1, Alopecia Universalis, AU
  • Hypoglossia-Hypodactylia
    OMIM # 103300
    Peromelia with Micrognathism, Oromandibular Limb Hypoplasia, Aglossia-Adactylia, Hanhart Syndrome
  • Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, due to Adenosine Deaminase Deficiency
    OMIM # 102700
    SCID due to ADA Deficiency , ADA-SCID, SCID due to ADA Deficiency, Early-Onset,
  • Hajdu-Cheney Syndrome
    OMIM # 102500
    HJCYS, Acroosteolysis with Osteoporosis and Changes in Skull and Mandible, Cheney Syndrome, Arthrodentoosteodysplasia, Serpentine Fibula-Polycystic Kidney Syndrome , SFPKS
  • Pfeiffer Syndrome
    OMIM # 101600
    Acrocephalosyndactyly, Type V, ACS5, ACS V, Noack Syndrome, Craniofacial-Skeletal-Dermatologic Dysplasia
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