Phenotypes for disease #01919 (aciduria (aciduria, methylmalonic , mut(0) type), OMIM:251000)

262 entries on 3 pages. Showing entries 1 - 100.
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AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000143295 - - - Familial, autosomal recessive - - - - - Belen Perez 00181043
0000143297 - - - Familial, autosomal recessive - - - - - Belen Perez 00181045
0000172862 - - - Familial, autosomal recessive - 7m 4m - - Dina A. Ghoraba 00229630
0000172863 - - - Familial, autosomal recessive - 49m 10m - - Dina A. Ghoraba 00229631
0000172864 - - - Familial, autosomal recessive - - - - - Dina A. Ghoraba 00229632
0000172865 - - - Familial, autosomal recessive - 1m 1m - - Dina A. Ghoraba 00229633
0000333854 newborn screening performed; 3m-deceased acute metabolic acidosis, respiratory failure, circulatory failure; hydroxoc-obalamin treatment effective methylmalonic acidemia MMA Familial, autosomal recessive 3m - 3d - - Johan den Dunnen 00444602
0000333855 newborn screening performed; 1y4m15d-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment effective methylmalonic acidemia MMA Familial, autosomal recessive 1y4m15d - 3d - - Johan den Dunnen 00444603
0000333856 newborn screening performed; 3m-deceased acute metabolic acidosis, respiratory failure, circulatory failure; hydroxoc-obalamin treatment not effective methylmalonic acidemia MMA Familial, autosomal recessive 3m - 3d - - Johan den Dunnen 00444604
0000333857 newborn screening performed; deceased, cause unknown methylmalonic acidemia MMA Familial, autosomal recessive - - - - - Johan den Dunnen 00444605
0000333858 newborn screening performed; <8m-deceased deceased, cause unknown; hydroxoc-obalamin treatment not effective methylmalonic acidemia MMA Familial, autosomal recessive <8m - - - - Johan den Dunnen 00444606
0000333859 newborn screening performed; deceased, cause unknown methylmalonic acidemia MMA Familial, autosomal recessive - - - - - Johan den Dunnen 00444607
0000333860 newborn screening performed; 2y-deceased infection-induced acute metabolic acidosis; hydroxoc-obalamin treatment effective methylmalonic acidemia MMA Familial, autosomal recessive 2y - 3m - - Johan den Dunnen 00444608
0000333861 newborn screening performed; 4y-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment not effective methylmalonic acidemia MMA Familial, autosomal recessive 4y - - - - Johan den Dunnen 00444609
0000333862 newborn screening performed; 7d-deceased acute metabolic acidosis, multiple organ failure methylmalonic acidemia MMA Familial, autosomal recessive 7d - 3d - - Johan den Dunnen 00444610
0000333863 newborn screening performed; 7d-deceased acute metabolic acidosis methylmalonic acidemia MMA Familial, autosomal recessive 7d - 3d - - Johan den Dunnen 00444611
0000333864 newborn screening performed; 1y-deceased infection-induced acute metabolic acidosis; hydroxoc-obalamin treatment not effective methylmalonic acidemia MMA Familial, autosomal recessive 1y - 3d - - Johan den Dunnen 00444612
0000333865 newborn screening performed; 11d-deceased acute metabolic acidosis, multiple organ failure methylmalonic acidemia MMA Familial, autosomal recessive 11d - 3d - - Johan den Dunnen 00444613
0000333866 newborn screening performed; 1y2m-deceased acute metabolic acidosis; hydroxoc-obalamin treatment not effective methylmalonic acidemia MMA Familial, autosomal recessive 1y2m - 3d - - Johan den Dunnen 00444614
0000333867 newborn screening performed; 6d-deceased acute metabolic acidosis methylmalonic acidemia MMA Familial, autosomal recessive 6d - 3d - - Johan den Dunnen 00444615
0000333868 newborn screening performed; 10d-deceased acute metabolic acidosis methylmalonic acidemia MMA Familial, autosomal recessive 10d - 3d - - Johan den Dunnen 00444616
0000333869 newborn screening performed; 1m-deceased infection-induced acute metabolic acidosis methylmalonic acidemia MMA Familial, autosomal recessive 1m - 3d - - Johan den Dunnen 00444617
0000333870 newborn screening performed; 7d-deceased acute metabolic acidosis methylmalonic acidemia MMA Familial, autosomal recessive 7d - 3d - - Johan den Dunnen 00444618
0000333871 newborn screening performed; 9d-deceased acute metabolic acidosis methylmalonic acidemia MMA Familial, autosomal recessive 9d - 7d - - Johan den Dunnen 00444619
0000333872 newborn screening performed; 4y4m-deceased infection-induced acute metabolic acidosis, anemia; hydroxoc-obalamin treatment not effective methylmalonic acidemia MMA Familial, autosomal recessive 4y4m - 3d - - Johan den Dunnen 00444620
0000333873 newborn screening performed; 10d-deceased acute metabolic acidosis methylmalonic acidemia MMA Familial, autosomal recessive 10d - 3d - - Johan den Dunnen 00444621
0000333874 newborn screening performed; 01y-03y-deceased deceased, cause unknown; hydroxoc-obalamin treatment not effective methylmalonic acidemia MMA Familial, autosomal recessive 01y-03y - 9d - - Johan den Dunnen 00444622
0000333875 no newborn screening performed; 1m-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment effective methylmalonic acidemia MMA Familial, autosomal recessive 1m - 3d - - Johan den Dunnen 00444623
0000333876 no newborn screening performed; 21d-deceased acute metabolic acidosis methylmalonic acidemia MMA Familial, autosomal recessive 21d - 3d - - Johan den Dunnen 00444624
0000333877 no newborn screening performed; 5m-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment not effective methylmalonic acidemia MMA Familial, autosomal recessive 5m - 3d - - Johan den Dunnen 00444625
0000333878 no newborn screening performed; 2m-deceased acute metabolic acidosis methylmalonic acidemia MMA Familial, autosomal recessive 2m - 3d - - Johan den Dunnen 00444626
0000333879 no newborn screening performed; <14m-deceased deceased, cause unknown; hydroxoc-obalamin treatment not effective methylmalonic acidemia MMA Familial, autosomal recessive <14m - 3d - - Johan den Dunnen 00444627
0000333880 no newborn screening performed; 11y-deceased infection-induced acute metabolic acidosis; hydroxoc-obalamin treatment effective methylmalonic acidemia MMA Familial, autosomal recessive 11y - 1y7m - - Johan den Dunnen 00444628
0000333881 no newborn screening performed; 2y6m-deceased infection-induced acute metabolic acidosis; hydroxoc-obalamin treatment not effective methylmalonic acidemia MMA Familial, autosomal recessive 2y6m - 3d - - Johan den Dunnen 00444629
0000333882 no newborn screening performed; 10y-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment not effective methylmalonic acidemia MMA Familial, autosomal recessive 10y - 1y5m - - Johan den Dunnen 00444630
0000333883 no newborn screening performed; 1m-deceased infection-induced acute metabolic acidosis methylmalonic acidemia MMA Familial, autosomal recessive 1m - 3d - - Johan den Dunnen 00444631
0000333884 no newborn screening performed; 6d-deceased acute metabolic acidosis, multiple organ failure methylmalonic acidemia MMA Familial, autosomal recessive 6d - 3d - - Johan den Dunnen 00444632
0000333885 no newborn screening performed; deceased, cause unknown methylmalonic acidemia MMA Familial, autosomal recessive - - - - - Johan den Dunnen 00444633
0000333886 no newborn screening performed; deceased, cause unknown methylmalonic acidemia MMA Familial, autosomal recessive - - - - - Johan den Dunnen 00444634
0000333887 no newborn screening performed; 4m-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment not effective methylmalonic acidemia MMA Familial, autosomal recessive 4m - 3d - - Johan den Dunnen 00444635
0000333888 no newborn screening performed; 6y-deceased infection-induced acute metabolic acidosis, respiratory failure methylmalonic acidemia MMA Familial, autosomal recessive 6y - - - - Johan den Dunnen 00444636
0000333889 no newborn screening performed; 7d-deceased acute metabolic acidosis, multiple organ failure methylmalonic acidemia MMA Familial, autosomal recessive 7d - 3d - - Johan den Dunnen 00444637
0000333890 no newborn screening performed; 12d-deceased infection-induced acute metabolic acidosis, respiratory failure methylmalonic acidemia MMA Familial, autosomal recessive 12d - 3d - - Johan den Dunnen 00444638
0000333891 no newborn screening performed; <10y-deceased deceased, cause unknown; hydroxoc-obalamin treatment not effective methylmalonic acidemia MMA Familial, autosomal recessive <10y - - - - Johan den Dunnen 00444639
0000333892 no newborn screening performed; deceased, cause unknown methylmalonic acidemia MMA Familial, autosomal recessive - - - - - Johan den Dunnen 00444640
0000333893 no newborn screening performed; 2y-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment not effective methylmalonic acidemia MMA Familial, autosomal recessive 2y - 21d - - Johan den Dunnen 00444641
0000333894 no newborn screening performed; <9y-deceased deceased, cause unknown; hydroxoc-obalamin treatment not effective methylmalonic acidemia MMA Familial, autosomal recessive <9y - 5m - - Johan den Dunnen 00444642
0000333895 no newborn screening performed; 1y-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment effective methylmalonic acidemia MMA Familial, autosomal recessive 1y - 3d - - Johan den Dunnen 00444643
0000333896 no newborn screening performed; deceased, cause unknown methylmalonic acidemia MMA Familial, autosomal recessive - - - - - Johan den Dunnen 00444644
0000333897 no newborn screening performed; 3y-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment not effective methylmalonic acidemia MMA Familial, autosomal recessive 3y - 7d - - Johan den Dunnen 00444645
0000333898 no newborn screening performed; <16m-deceased deceased, cause unknown methylmalonic acidemia MMA Familial, autosomal recessive <16m - 3d - - Johan den Dunnen 00444646
0000333899 no newborn screening performed; 1y-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment not effective methylmalonic acidemia MMA Familial, autosomal recessive 1y - 1m - - Johan den Dunnen 00444647
0000333900 no newborn screening performed; 6y-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment not effective methylmalonic acidemia MMA Familial, autosomal recessive 6y - - - - Johan den Dunnen 00444648
0000333901 no newborn screening performed; 4y-deceased infection-induced acute metabolic acidosis; hydroxoc-obalamin treatment not effective methylmalonic acidemia MMA Familial, autosomal recessive 4y - - - - Johan den Dunnen 00444649
0000333902 no newborn screening performed; 3d-deceased acute metabolic acidosis, multiple organ failure methylmalonic acidemia MMA Familial, autosomal recessive 3d - 3d - - Johan den Dunnen 00444650
0000333903 no newborn screening performed; 4y-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment not effective methylmalonic acidemia MMA Familial, autosomal recessive 4y - 3d - - Johan den Dunnen 00444651
0000333904 no newborn screening performed; 1y-deceased infection-induced acute metabolic acidosis; hydroxoc-obalamin treatment not effective methylmalonic acidemia MMA Familial, autosomal recessive 1y - 4m - - Johan den Dunnen 00444652
0000333905 no newborn screening performed; 13d-deceased acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment not effective methylmalonic acidemia MMA Familial, autosomal recessive 13d - 7d - - Johan den Dunnen 00444653
0000333906 no newborn screening performed; deceased, cause unknown methylmalonic acidemia MMA Familial, autosomal recessive - - - - - Johan den Dunnen 00444654
0000333907 no newborn screening performed; 1y6m-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment not effective methylmalonic acidemia MMA Familial, autosomal recessive 1y6m - 3d - - Johan den Dunnen 00444655
0000333908 no newborn screening performed; 1y10m-deceased infection-induced acute metabolic acidosis, respiratory failure methylmalonic acidemia MMA Familial, autosomal recessive 1y10m - 3d - - Johan den Dunnen 00444656
0000333909 no newborn screening performed; 5d-deceased acute metabolic acidosis, respiratory failure methylmalonic acidemia MMA Familial, autosomal recessive 5d - 3d - - Johan den Dunnen 00444657
0000333910 no newborn screening performed; 8d-deceased acute metabolic acidosis, respiratory failure methylmalonic acidemia MMA Familial, autosomal recessive 8d - 3d - - Johan den Dunnen 00444658
0000333911 no newborn screening performed; 27d-deceased infection-induced acute metabolic acidosis, respiratory failure methylmalonic acidemia MMA Familial, autosomal recessive 27d - 3d - - Johan den Dunnen 00444659
0000333912 no newborn screening performed; 1m-deceased infection-induced acute metabolic acidosis, respiratory failure methylmalonic acidemia MMA Familial, autosomal recessive 1m - 3d - - Johan den Dunnen 00444660
0000333913 no newborn screening performed; 1y6m15d-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment effective methylmalonic acidemia MMA Familial, autosomal recessive 1y6m15d - 3d - - Johan den Dunnen 00444661
0000333914 no newborn screening performed; 5d-deceased acute metabolic acidosis, respiratory failure methylmalonic acidemia MMA Familial, autosomal recessive 5d - 3d - - Johan den Dunnen 00444662
0000333915 no newborn screening performed; 13d-deceased acute metabolic acidosis, respiratory failure, circulatory failure methylmalonic acidemia MMA Familial, autosomal recessive 13d - 3d - - Johan den Dunnen 00444663
0000333916 no newborn screening performed; <6y-deceased acute metabolic acidosis, liver function impairment, multiple organ failure; hydroxoc-obalamin treatment not effective methylmalonic acidemia MMA Familial, autosomal recessive <6y - 3m - - Johan den Dunnen 00444664
0000333917 no newborn screening performed; 4y-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment not effective methylmalonic acidemia MMA Familial, autosomal recessive 4y - 3d - - Johan den Dunnen 00444665
0000333918 no newborn screening performed; 1y-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment not effective methylmalonic acidemia MMA Familial, autosomal recessive 1y - 7d - - Johan den Dunnen 00444666
0000333919 no newborn screening performed; 6d-deceased acute metabolic acidosis, respiratory failure, circulatory failure methylmalonic acidemia MMA Familial, autosomal recessive 6d - 3d - - Johan den Dunnen 00444667
0000333920 no newborn screening performed; 6y-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment not effective methylmalonic acidemia MMA Familial, autosomal recessive 6y - 3d - - Johan den Dunnen 00444668
0000333921 no newborn screening performed; 7d-deceased acute metabolic acidosis, respiratory failure, circulatory failure methylmalonic acidemia MMA Familial, autosomal recessive 7d - 3d - - Johan den Dunnen 00444669
0000333922 no newborn screening performed; 7d-deceased acute metabolic acidosis, multiple organ failure methylmalonic acidemia MMA Familial, autosomal recessive 7d - 3d - - Johan den Dunnen 00444670
0000333923 no newborn screening performed; 8d-deceased acute metabolic acidosis, respiratory failure methylmalonic acidemia MMA Familial, autosomal recessive 8d - 3d - - Johan den Dunnen 00444671
0000333924 no newborn screening performed; 1y-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment not effective methylmalonic acidemia MMA Familial, autosomal recessive 1y - 1m - - Johan den Dunnen 00444672
0000333925 no newborn screening performed; 3d-deceased acute metabolic acidosis, respiratory failure, circulatory failure methylmalonic acidemia MMA Familial, autosomal recessive 3d - 3d - - Johan den Dunnen 00444673
0000333926 no newborn screening performed; 5d-deceased acute metabolic acidosis, respiratory failure, circulatory failure methylmalonic acidemia MMA Familial, autosomal recessive 5d - 3d - - Johan den Dunnen 00444674
0000333927 no newborn screening performed; 5d-deceased acute metabolic acidosis, respiratory failure methylmalonic acidemia MMA Familial, autosomal recessive 5d - 7d - - Johan den Dunnen 00444675
0000333928 no newborn screening performed; 17d-deceased acute metabolic acidosis, respiratory failure methylmalonic acidemia MMA Familial, autosomal recessive 17d - 3d - - Johan den Dunnen 00444676
0000333929 no newborn screening performed; <5m-deceased deceased, cause unknown; hydroxoc-obalamin treatment not effective methylmalonic acidemia MMA Familial, autosomal recessive <5m - 3d - - Johan den Dunnen 00444677
0000333930 no newborn screening performed; <30m-deceased deceased, cause unknown methylmalonic acidemia MMA Familial, autosomal recessive <30m - 3d - - Johan den Dunnen 00444678
0000333931 no newborn screening performed; 4d-deceased acute metabolic acidosis, multiple organ failure methylmalonic acidemia MMA Familial, autosomal recessive 4d - 3d - - Johan den Dunnen 00444679
0000333932 no newborn screening performed; 10d-deceased acute metabolic acidosis, respiratory failure methylmalonic acidemia MMA Familial, autosomal recessive 10d - 3d - - Johan den Dunnen 00444680
0000333933 no newborn screening performed; 5d-deceased acute metabolic acidosis, respiratory failure methylmalonic acidemia MMA Familial, autosomal recessive 5d - 3d - - Johan den Dunnen 00444681
0000333934 no newborn screening performed; 10d-deceased acute metabolic acidosis, respiratory failure methylmalonic acidemia MMA Familial, autosomal recessive 10d - 3d - - Johan den Dunnen 00444682
0000333935 no newborn screening performed; 1y7m-deceased infection-induced acute metabolic acidosis, respiratory failure methylmalonic acidemia MMA Familial, autosomal recessive 1y7m - 3d - - Johan den Dunnen 00444683
0000333936 no newborn screening performed; 13d-deceased acute metabolic acidosis, respiratory failure methylmalonic acidemia MMA Familial, autosomal recessive 13d - 7d - - Johan den Dunnen 00444684
0000333937 no newborn screening performed; 5y-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment not effective methylmalonic acidemia MMA Familial, autosomal recessive 5y - 3d - - Johan den Dunnen 00444685
0000333938 no newborn screening performed; 5d-deceased acute metabolic acidosis, respiratory failure methylmalonic acidemia MMA Familial, autosomal recessive 5d - 3d - - Johan den Dunnen 00444686
0000333939 no newborn screening performed; 12d-deceased acute metabolic acidosis, respiratory failure methylmalonic acidemia MMA Familial, autosomal recessive 12d - 3d - - Johan den Dunnen 00444687
0000333940 no newborn screening performed; 4d-deceased acute metabolic acidosis, respiratory failure, circulatory failure methylmalonic acidemia MMA Familial, autosomal recessive 4d - 7d - - Johan den Dunnen 00444688
0000333941 no newborn screening performed; 1y-deceased acute metabolic acidosis, respiratory failure, circulatory failure methylmalonic acidemia MMA Familial, autosomal recessive 1y - - - - Johan den Dunnen 00444689
0000333942 no newborn screening performed; 2y-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment effective methylmalonic acidemia MMA Familial, autosomal recessive 2y - 1y - - Johan den Dunnen 00444690
0000333943 no newborn screening performed; 5y5m-deceased infection-induced acute metabolic acidosis, renal failure, multiple organ failure; hydroxoc-obalamin treatment not effective methylmalonic acidemia MMA Familial, autosomal recessive 5y5m - 1y - - Johan den Dunnen 00444691
0000333944 - methylmalonic acidemia MMA Familial, autosomal recessive - - - - - Johan den Dunnen 00444692
0000333945 - methylmalonic acidemia MMA Familial, autosomal recessive - - - - - Johan den Dunnen 00444693
0000333946 - methylmalonic acidemia MMA Familial, autosomal recessive - - - - - Johan den Dunnen 00444694
0000333947 - methylmalonic acidemia MMA Familial, autosomal recessive - - - - - Johan den Dunnen 00444695
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