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CTGA Database Listing
Arab Genomic Studies
Records found: 2247 Sort by:
  • Currarino Syndrome
    OMIM # 176450
    Currarino-Triad, Sacral Agenesis Syndrome, Sacral Agenesis, Hereditary, with Presacral Mass, Anterior Meningocele, and/or Teratoma, and Anorectal Malformation, SCRA1,
  • Short-Rib Thoracic Dysplasia 9 with or without Polydactyly
    OMIM # 266920
    SRTD9, Mainzer-Saldino Syndrome, MZSDS, Conorenal Syndrome, Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia, and Skeletal Dysplasia,
  • Lysosomal Acid Lipase Deficiency
    OMIM # 278000
    Cholesteryl Ester Storage Disease, CESD, LIPA Deficiency, LAL Deficiency Cholesterol Ester Hydrolase Deficiency, Wolman Disease
  • Glutaric Acidemia I
    OMIM # 231670
    Glutaric Aciduria I, GA I, Glutaryl-CoA Dehydrogenase Deficiency, GDD
  • Congenital Disorder of Glycosylation, Type Il
    OMIM # 608776
    CDG Il, CDG1L, ALG9-CDG,
  • Intraflagellar Transport 140, Chlamydomonas, Homolog of
    OMIM # 614620
    IFT140, KIAA0590,
  • Peripherin 2, Mouse, Homolog of
    OMIM # 179605
    PRPH2, RDS, Mouse, Homolog of, RDS, Peripherin, Photoreceptor Type, Retinal Degeneration, Slow, Mouse, Homolog of,
  • PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD
    OMIM # 312170
    PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY, PYRUVATE DECARBOXYLASE DEFICIENCY, ATAXIA, INTERMITTENT, WITH ABNORMAL PYRUVATE METABOLISM, PDH DEFICIENCY, ATAXIA, INTERMITTENT, WITH PYRUVATE DEHYDROGENASE DEFICIENCY, ATAXIA WITH LACTIC ACIDOSIS I,
  • Retinitis Pigmentosa 7
    OMIM # 608133
    RP7, Retinitis Pigmentosa 7, Digenic, Leber Congenital Amaurosis 18, LCA18,
  • Neutropenia, Severe Congenital, 3, Autosomal Recessive
    OMIM # 610738
    SCN3, Kostmann Disease, Agranulocytosis, Infantile,
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