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CTGA Database Listing
Arab Genomic Studies
Records found: 2572 Sort by:
  • 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
  • Donnai-Barrow Syndrome
    OMIM # 222448
    Faciooculoacoudticorenal Syndrome, DBS/FOAR Syndrome, Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, and Proteinuria
  • Lysinuric Protein Intolerance
    OMIM # 222700
    LPI, Dibasic Amino Aciduria II
  • Nephrotic Syndrome, Type 1
    OMIM # 256300
    NPHS1, Finnish Congenital Nephrosis, CNF, Nephrotic Syndrome, Congenital
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