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CTGA Database Listing
Arab Genomic Studies
Records found: 2571 Sort by:
  • Citrullinemia, Classic
    OMIM # 215700
    Citrullinemia, Type I, CTLN1, Citrullinuria, Argininosuccinate Synthetase Deficiency, ASS Deficiency
  • Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism
    OMIM # 215470
    Boucher-Neuhauser Syndrome
  • Rhizomelic Chondrodysplasia Punctata, Type 1
    OMIM # 215100
    RCDP1, Chondrodysplasia Punctata, Rhizomelic Form, CDPR, Chondrodystrophia Calcificans Punctata, PTS2 Deficiency, Alkylglycerone Phosphate Synthase Deficiency,
  • Cholestasis-Lymphedema Syndrome
    OMIM # 214900
    CHLS, Aagenaes Syndrome, Lymphedema-Cholestasis Syndrome, LCS, LCS1
  • CHARGE Syndrome
    OMIM # 214800
    Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies, Hall-Hittner Syndrome, HHS
  • Diarrhea 1, Secretory Chloride, Congenital
    OMIM # 214700
    DIAR1, Chloride Diarrhea, Congenital, Finnish Type, Chloridorrhea, Congenital,
  • Chediak-Higashi Syndrome
    OMIM # 214500
    CHS, Begnez-Cesar's Syndrome, Chediak-Steinbrinck-Higashi Syndrome, Leukocytic Anomaly Albinism, Natural Killer Lymphocytes, Defect in, Oculocutaneous Albinism, Chediak-Higashi Type
  • Klippel-Feil Syndrome 2, Autosomal Recessive
    OMIM # 214300
    KFS2, KFS, Autosomal Recessive, Cervical Vertebral Fusion, Autosomal Recessive,
  • Cerebrooculofacioskeletal Syndrome 1
    OMIM # 214150
    COFS1, COFS Syndrome, Pena-Shokeir Syndrome, Type II
  • Peroxisome Biogenesis Disorder 1A (Zellweger)
    OMIM # 214100
    PBD1A, ZS, ZWS, Cerebrohepatorenal Syndrome, CHR, Peroxisome Biogenesis Disorder, Complementation Group 1, CG1, Peroxisome Biogenesis Disorder, Complementation Group E, CGE, Zellweger Syndrome
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