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CTGA Database Listing
Arab Genomic Studies
Records found: 2306 Sort by:
  • Knobloch Syndrome 1
    OMIM # 267750
    KNO1, KNO, Retinal Detachment and Occipital Encephalocele
  • Hemophagocytic Lymphohistiocytosis, Familial, 1
    OMIM # 267700
    FHL1, HPLH1, HLH1, Hemophagocytic Lymphohistiocytosis, Familial, FHL, FHLH, HPLH, Reticulosis, Familial Histiocytic, Hemophagocytic Reticulosis, Familial, Erythrophagocytic Lymphohistiocytosis, Familial, FEL
  • Geroderma Osteodysplasticum
    OMIM # 231070
    GO, Gerodermia Osteodysplastica, Osteoplastic Geroderma Walt Disney Dwarfism, Premature Senility Syndrome, Bamatter's syndrome, Bamatter-Franceschetti-Klein-Sierro Syndrome, Walt Disney Dwarfism,
  • Perforin 1
    OMIM # 170280
    PRF1, PFN1, Pore-Forming Protein, PFP
  • Collagen, Type XVIII, Alpha-1
    OMIM # 120328
    COL18A1, Endostatin
  • Mental Retardation, Autosomal Recessive 54
    OMIM # 617028
    MRT54
  • Epileptic Encephalopathy, Early Infantile, 38
    OMIM # 617020
    EIEE38
  • Epileptic Encephalopathy, Early Infantile, 32
    OMIM # 616366
    EIEE32
  • Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset
    OMIM # 616263
    IMNEPD
  • Night Blindness, Congenital Stationary, Type 1C
    OMIM # 613216
    CSNB1C, CSNB, Complete, Autosomal Recessive,
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