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CTGA Database Listing
Arab Genomic Studies
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  • Usher Syndrome, Type IIIA
    OMIM # 276902
    USH3A, Usher Syndrome, Type III, USH3
  • Usher Syndrome, Type IC
    OMIM # 276904
    USH1C, Usher Syndrome, Type I, Acadian Variety
  • Mayer-Rokitansky-Kuster-Hauser Syndrome
    OMIM # 277000
    MRKH Syndrome, Mullerian Aplasia/Dysgenesis, Von Mayer-Rokitansky-Kuster Anomaly, MRKH Anomaly, MRK Anomaly, Uterus Bipartitus Solidus Rudimentarius Cum Vagina Solida, Congenital Absence of Uterus and Vagina, CAUV
  • Orofaciodigital Syndrome VI
    OMIM # 277170
    Oral-Facial-Digital syndrome, Type VI, OFDS VI, Varadi-Papp Syndrome, Varadi Syndrome, Polydactyly, Cleft Lip/Palate or Lingual Lump, and Psychomotor Retardation
  • Vas Deferens, Congenital Bilateral Aplasia of
    OMIM # 277180
    CBAVD, CAVD
  • Spondylocostal Dysostosis, Autosomal Recessive, 1
    OMIM # 277300
    SCDO1, Vertebral Anomalies, Jarcho-Levin Syndrome, Spondylothoracic Dysplasia, Costovertebral Dysplasia, Spondylothoracic Dysostosis,
  • Methylmalonic Aciduria and Homocystinuria, cblC Type
    OMIM # 277400
    Methylmalonic Acidemia and Homocystinuria, cblC Type, Methylmalonic Aciduria and Homocystinuria, Vitamin B12-Responsive, Vitamin B12 Metabolic Defect with Combined Deficiency of Methylmalonyl-CoA Mutase and Homocysteine:Methyltetrahydrofolate Methyltransferase
  • Vitamin D-Dependent Rickets, Type II
    OMIM # 277440
    VDDR2A, Vitamin D-Dependent Rickets, Type 2a, with or without Alopecia, Rickets, Hereditary Vitamin D-Resistant, HVDRR, Generalized Resistance to 1,25-Dihydroxyvitamin D, Vitamin D-Resistant Rickets with End-Organ Unresponsiveness to 1,25-Dihydroxycholecalciferol, Pseudovitamin D-Deficiency, Type IIA, PDDR IIA, Hypocalcemic Vitamin D-Resistant Rickets, HVDRR, Rickets-Alopecia Syndrome
  • Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1 Chondrodysplasia Punctata with Coagulation Factor Deficiency
    OMIM # 277450
    VKCFD1, VKCFD, Vitamin K-Dependent Coagulation Defect, Familial Multiple Coagulation Factor Deficiency III, FMFD III, Multiple Coagulation Factor Deficiency III, MCFD3, Factors II, VII, IX, and X, Combined Deficiency of, Glutamic Acid, Deficient Gamma-Carboxylation of
  • Von Willebrand Disease, Type 3
    OMIM # 277480
    VWD3, Von Willebrand Disease, Type III, VWD, Type 3
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