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CTGA Database Listing
Arab Genomic Studies
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  • Angelman Syndrome
    OMIM # 105830
    AS, Happy Puppet Syndrome
  • Diamond-Blackfan Anemia 1
    OMIM # 105650
    DBA1, Blackfan-Diamond Syndrome, BDS, Anemia, Congenital Hypoplastic, of Blackfan and Diamond, Anemia, Congenital Erythroid Hypoplastic, Red Cell Aplasia, Pure, Hereditary, Aregenerative Anemia, Chronic Congenital, Erythrogenesis Imperfecta, AASE-Smith Syndrome II, AASE Syndrome
  • Amyloidosis, Primary Localized Cutaneous, 1
    OMIM # 105250
    PLCA1, Amyloidosis, Primary Cutaneous, 1, PCA1, PCA, Lichen Amyloidosis, Familial, Amyloidosis IX, Amyloidosis, Familial Cutaneous Lichen
  • Amelogenesis Imperfecta, Type 1A
    OMIM # 104530
    AI1A, Amelogenesis imperfecta, hypoplastic type IA ,
  • Alzheimer Disease
    OMIM # 104300
    AD, Presenile and Senile Dementia, Alzheimer Disease, Familial, 1, AD1, Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
  • Short-rib thoracic dysplasia 1 with or without polydactyly
    OMIM # 208500
    Asphyxiating Thoracic Dystrophy 1, ATD1, Jeune Syndrome, Thoracic-Pelvic-Phalangeal Dystrophy
  • Brown-Vialetto-Van Laere Syndrome 1
    OMIM # 211530
    BVVLS1, Pontobulbar Palsy with Deafness, Bulbar Palsy, Progressive, with Sensorineural Deafness
  • Spinocerebellar Ataxia, Autosomal Recessive 2
    OMIM # 213200
    SCAR2, Cerebelloparenchymal Disorder III, CPD III, CPD3, Cerebellar Hypoplasia, Nonprogressive Norman Type, Cerebellar Granular Cell Hypoplasia and Mental Retardation, Congenital
  • Conotruncal Heart Malformations
    OMIM # 217095
    CTHM, Truncus Arteriosus Communis, Conotruncal Anomaly Face Syndrome, CAFS, Double-Outlet Right Ventricle, DORV, Persistent Truncus Arteriosus, PTA
  • Duodenal Atresia
    OMIM # 223400
    Duodenal Stenosis,
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