Home / CTGA Database Listing
CTGA Database Listing
Arab Genomic Studies
Records found: 2208 Sort by:
  • 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,
  • DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY
    OMIM # 274270
    DPD DEFICIENCY, DPYD DEFICIENCY, THYMINE-URACILURIA, HEREDITARY, PYRIMIDINEMIA, FAMILIAL,
  • Leber Congenital Amaurosis 13
    OMIM # 612712
    LCA13
  1. <<
  2. ...
  3. 6
  4. 7
  5. 8
  6. 9
  7. 10
  8. 11
  9. 12
  10. 13
  11. 14
  12. 15
  13. 16
  14. 17
  15. ...
  16. >>