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Documents (103) JSON TSV
 

source DB source ID text # proj. # Ann.
OMIM_backup@xiajingbo 106180-1-ACE In 2 sibs with renal tubular dysgenesis (267430) from a consanguineous Turkish family, Gribouval et 6 0 show
OMIM_backup@xiajingbo 106180-2-ACE Factors involved in the pathogenesis of atherosclerosis, thrombosis, and vasoconstriction contribute 6 0 show
OMIM_backup@xiajingbo 109700-1-B2M In 2 sibs, born of consanguineous parents, with immunodeficiency-43 (IMD43; 241600) originally repor 6 0 show
OMIM_backup@xiajingbo 109700-2-B2M In 2 Turkish sibs, born of consanguineous parents, with immunodeficiency-43 (IMD43; 241600), Ardeniz 6 0 show
OMIM_backup@xiajingbo 126450-1-DRD2 This variant, formerly titled MYOCLONUS-DYSTONIA SYNDROME, has been reclassified based on the findin 6 0 show
OMIM_backup@xiajingbo 165215-1-MECOM In a 3-year-old Japanese girl (TRS1) with radioulnar synostosis and amegakaryocytic thrombocytopenia 6 0 show
OMIM_backup@xiajingbo 165215-2-MECOM In an 8.75-year-old Japanese girl (TRS2) with radioulnar synostosis and amegakaryocytic thrombocytop 6 0 show
OMIM_backup@xiajingbo 165215-3-MECOM In an 8-year-old Japanese boy (TRS3) with radioulnar synostosis and amegakaryocytic thrombocytopenia 6 0 show
OMIM_backup@xiajingbo 171833-1-PIK3R1 In a 7-year-old boy with SHORT syndrome (269880), Thauvin-Robinet et al. (2013) identified heterozyg 6 0 show
OMIM_backup@xiajingbo 171833-2-PIK3R1 In a 7-year-old boy with SHORT syndrome (269880), Thauvin-Robinet et al. (2013) identified heterozyg 6 0 show