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CTGA Database Listing
Arab Genomic Studies
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  • Currarino Syndrome
    OMIM # 176450
    Currarino-Triad, Sacral Agenesis Syndrome, Sacral Agenesis, Hereditary, with Presacral Mass, Anterior Meningocele, and/or Teratoma, and Anorectal Malformation, SCRA1
  • Prader-Willi Syndrome
    OMIM # 176270
    PWS, Prader-Labhart-Willi Syndrome, Prader-Willi Syndrome Chromosome Region, PWCR, Willi-Prader Syndrome, Prader-Willi-Like Syndrome Associated with Chromosome 6
  • Porphyria, Acute Intermittent
    OMIM # 176000
    AIP, Porphyria, Swedish Type, Porphobilinogen Deaminase Deficiency, PBGD Deficiency, Uroporphyrinogen Synthase Deficiency, UPS Deficiency, Porphyria, Acute Intermittent, Nonerythroid Variant, Porphyria, Chester Type, PORC
  • Greig Cephalopolysyndactyly Syndrome
    OMIM # 175700
    GCPS, Polysyndactyly with Peculiar Skull Shape
  • Peutz-Jeghers Syndrome
    OMIM # 175200
    PJS, Polyposis, Hamartomatous Intestinal, Polyps-and-Spots Syndrome,
  • Familial Adenomatous Polyposis 1
    OMIM # 175100
    FAP1, Adenomatous Polyposis of the Colon, APC, Familial Polyposis of the Colon, FPC, Polyposis, Adenomatous Intestinal, Familial Adenomatous Polyposis, FAP, Gardner Syndrome, GS, Adenomatous Polyposis Coli, Attenuated, AAPC, Deleted in Polyposis 2.5, DP2.5, Brain Tumor-Polyposis Syndrome 2, BTPS2, Familial Adenomatous Polyposis, Attenuated, AFAP
  • McCune-Albright Syndrome
    OMIM # 174800
    MAS, Albright Syndrome, Polyostotic Fibrous Dysplasia, PFD, POFD,
  • Polydactyly, Preaxial I
    OMIM # 174400
    PPD1, Polydactyly Preaxial , Thumb Polydactyly, Thenar Hypoplasia, Fromont Anomaly
  • Polycystic Liver Disease 1 with or without Kidney Cysts
    OMIM # 174050
    PCLD1
  • Polycystic Kidney Disease 1 with or without Polycystic Liver Disease
    OMIM # 173900
    Polycystic Kidney Disease, PKD, Polycystic Kidney Disease, Adult, APKD, Potter Type III Polycystic Kidney Disease
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