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CTGA Database Listing
Arab Genomic Studies
Records found: 2572 Sort by:
  • Anemia, Dyserythropoietic Congenital, Type Ia
    OMIM # 224120
    Dyserythropoietic Anemia, Congenital, Type Ia, CDA Ia, Anemia, Dyserythropoietic Congenital, Type I,
  • Anemia, Dyserythropoietic Congenital, Type II
    OMIM # 224100
    CDAN2, Dyserythropoietic Anemia, Congenital, Type II, CDA II, Dyserythropoietic Anemia, Hempas Type, Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum Test; , HEMPAS
  • Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1
    OMIM # 224050
    CAMRQ1, Cerebellar Hypoplasia, VLDLR-Associated, Cerebellar Ataxia and Mental Retardation with or without Quadrupedal Locomotion 1, Cerebellar Ataxia, Congenital, and Mental Retardation, Autosomal Recessive, Dysequilibrium Syndrome, DES
  • Endothelin Receptor, Type B
    OMIM # 131244
    EDNRB, Endothelin Receptor, Nonselective Type, Endothelin Receptor Subtype B1, ETB, ETRB, ETBR
  • Waardenburg Syndrome, Type 4A
    OMIM # 277580
    WS4A, Waardenburg Syndrome, Type IV, WS4, Waardenburg Syndrome with Hirschsprung Disease, Type 4A, Waardenburg-Shah Syndrome, Shah-Waardenburg Syndrome
  • Waardenburg Syndrome, Type 2A
    OMIM # 193510
    WS2A, Waardenburg Syndrome, Type IIA, Waardenburg Syndrome without Dystopia Canthorum, WS2
  • Microphthalmia-Associated Transcription Factor
    OMIM # 156845
    MITF, Melanocyte Inducing Transcription Factor
  • Lactase Intolerance, Adult Type
    OMIM # 223100
    Disaccharide Intolerance III, Adult Lactase Deficiency, Lactose Intolerance, Hereditary Persistence of Intestinal Lactase, Hypolactasia, Adult Type
  • Lactase Deficiency, Congenital
    OMIM # 223000
    CLD, Alactasia, Hereditary, Disaccharide Intolerance II
  • Rhizomelic Chondrodysplasia Punctata, Type 2
    OMIM # 222765
    RCDP2, Dihydroxyacetonephosphate Acyltransferase Deficiency, DHAPAT Deficiency, Glyceronephosphate O-Acyltransferase Deficiency, GNPAT Deficiency, Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency, Chondrodysplasia Punctata, Rhizomelic, due to Dihydroxyacetonephosphate Acyltransferase Deficiency
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