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CTGA Database Listing
Arab Genomic Studies
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  • Glycogen Storage Disease II
    OMIM # 232300
    GSD II, GSD2, Acid Alpha-Glucosidase Deficiency, GAA Deficiency, Pompe Disease, Glycogenosis, Generalized, Cardiac Form, Cardiomegalia Glycogenica Diffusa, Acid Maltase Deficiency, AMD, Alpha-1,4-Glucosidase Deficiency
  • Cleidocranial Dysplasia
    OMIM # 119600
    CCD, Cleidocranial Dysostosis, CLCD, Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly, Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only
  • Glycogen Storage Disease I
    OMIM # 232200
    GSD I, GSD1, Glycogen Storage Disease Ia, GSD1A, Von Gierke Disease, Hepatorenal Form of Glycogen Storage Disease, Glucose-6-Phosphatase Deficiency, Hepatorenal Glycogenosis, Glucose-6-Phosphatase, Catalytic, G6PC, Glucose-6-Phosphatase, Catalytic, 1, G6PC1, G6PT
  • Orofacial Cleft 1
    OMIM # 119530
    OFC1, Cleft Lip with or without Cleft Palate, Nonsyndromic, Orofacial Cleft, Nonsyndromic, OFC, Cleft Lip/Palate, Nonsyndromic
  • Van der Woude Syndrome 1
    OMIM # 119300
    VWS1, VDWS, Lip-Pit Syndrome , LPS, PIT, Cleft Lip and/or Palate with Mucous Cysts of Lower Lip
  • Porcupine O-Acyltransferase
    OMIM # 300651
    PORC, PPN, Protein-Serine O-Palmitoleoyltransferase Porcupine, Porcupine Homolog (Drosophila)
  • Focal Dermal Hypoplasia
    OMIM # 305600
    FDH, FODH, DHOF, Goltz Syndrome, Goltz-Gorlin Syndrome
  • Split-Hand/Foot Malformation with Long Bone Deficiency 1
    OMIM # 119100
    SHFLD1, Split-Hand/Foot Malformation with Long Bone Deficiency, SHFLD, Cleft Hand and Absent Tibia, Aplasia of Tibia with Ectrodactyly, Tibial Aplasia with Split-Hand/Split-Foot Deformity, Ectrodactyly with Aplasia of Long Bones
  • Paroxysmal Nonkinesigenic Dyskinesia 1
    OMIM # 118800
    PNKD1, Paroxysmal Dystonic Choreoathetosis, PDC, Choreoathetosis, Familial Paroxysmal, FPD1, Mount-Reback Syndrome, Choreoathetosis, Nonkinesigenic, Dystonia 8, DYT8
  • Chondrocalcinosis 2
    OMIM # 118600
    CCAL2, Chondrocalcinosis, Familial Articular, Calcium Gout, Calcium Pyrophosphate Arthropathy, Calcium Pyrophosphate Dihydrate Deposition Disease, CPPDD
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