Phenotypes for disease #01995 (HP1 (hyperoxaluria, primary, type I (HP1)), OMIM:259900)

49 entries on 1 page. Showing entries 1 - 49.
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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     
0000303403 hyperoxaluria - hyperoxaluria Familial, autosomal recessive 17y 17y - - - Aiysha Abid 00411364
0000303404 hyperoxaluria oxalosis - Familial, autosomal recessive 11y 11y - renal stone - Aiysha Abid 00411365
0000303405 - oxalosis Primary hyperoxaluria Familial, autosomal recessive 08y 08y - - - Aiysha Abid 00411366
0000303406 - CKD stone disease Primary hyperoxaluria Familial, autosomal recessive 07y 07y - - - Aiysha Abid 00411367
0000303418 ESRD stone disease oxalosis Primary hyperoxaluria Familial, autosomal recessive 04y 04y - - - Aiysha Abid 00411378
0000303419 - oxalosis Primary hyperoxaluria Familial, autosomal recessive 07y 07y - - - Aiysha Abid 00411379
0000303450 - oxalosis Primary hyperoxaluria Familial, autosomal recessive 13y 13y - - - Aiysha Abid 00411410
0000303453 stone disease with nephrocalcinosis oxalosis Primary hyperoxaluria Familial, autosomal recessive 08y 08y - - - Aiysha Abid 00411413
0000303454 - oxalosis Primary hyperoxaluria Familial, autosomal recessive - - - - - Aiysha Abid 00411414
0000303455 calcium stone disease with nephrocalcinosis oxalosis Primary hyperoxaluria Familial, autosomal recessive - - - - - Aiysha Abid 00411415
0000303457 - oxalosis Primary hyperoxaluria Familial, autosomal recessive 02y05m 02y05m - - - Aiysha Abid 00411416
0000303458 - oxalosis Primary hyperoxaluria Familial, autosomal recessive 05y 05y - - - Aiysha Abid 00411418
0000303462 familial stone disease, nephrocalcinosis oxalosis Primary hyperoxaluria Familial, autosomal recessive 00y06m 00y08m - - - Aiysha Abid 00411422
0000303463 - oxalosis Primary hyperoxaluria Familial, autosomal recessive 12y 12y - - - Aiysha Abid 00411423
0000303464 - oxalosis Primary hyperoxaluria Familial, autosomal recessive - - - - - Aiysha Abid 00411424
0000303465 stone disease, nephrocalcinosis oxalosis Primary hyperoxaluria Familial, autosomal recessive 03y 03y - - - Aiysha Abid 00411425
0000303466 - oxalosis Primary hyperoxaluria Familial, autosomal recessive 09y 09y - - - Aiysha Abid 00411426
0000303493 - oxalosis Primary hyperoxaluria Familial, autosomal recessive 02y 02y - - - Aiysha Abid 00411456
0000303494 - oxalosis Primary hyperoxaluria Familial, autosomal recessive 16y 16y - - - Aiysha Abid 00411457
0000303495 - - Primary hyperoxaluria Familial, autosomal recessive 12y 12y - - - Aiysha Abid 00411458
0000303533 - - Primary hyperoxaluria Familial, autosomal recessive 16y 16y - - - Aiysha Abid 00411496
0000303538 - - Primary hyperoxaluria Familial, autosomal recessive 12y 12y - - - Aiysha Abid 00411501
0000303541 CKD stone disease oxalosis Primary hyperoxaluria Familial, autosomal recessive - - - - - Aiysha Abid 00411504
0000303542 stone disease with nephrocalcinosis - Primary hyperoxaluria Familial, autosomal recessive - - - - - Aiysha Abid 00411505
0000303564 - oxalosis Primary hyperoxaluria Familial, autosomal recessive - - - - - Aiysha Abid 00411528
0000303565 - oxalosis Primary hyperoxaluria Familial, autosomal recessive - - - - - Aiysha Abid 00411529
0000303566 oxalosis nephrocalcinosis oxalosis Primary hyperoxaluria Familial, autosomal recessive 03y 03y - - - Aiysha Abid 00411530
0000303568 - - Primary hyperoxaluria Familial, autosomal recessive 00y11m 00y11m - - - Aiysha Abid 00411531
0000303583 - - Primary hyperoxaluria Familial, autosomal recessive 04y 04y - - - Aiysha Abid 00411546
0000352782 see paper; ... hyperoxaluria HP1 Familial, autosomal recessive - - - - - Johan den Dunnen 00362013
0000352783 see paper; ... hyperoxaluria HP1 Familial, autosomal recessive - - - - - Johan den Dunnen 00362012
0000352784 see paper; ... hyperoxaluria HP1 Familial, autosomal recessive - - - - - Mohamed A. Elmonem 00467572
0000352785 see paper; ... hyperoxaluria HP1 Familial, autosomal recessive - - - - - Mohamed A. Elmonem 00467573
0000352786 see paper; ... hyperoxaluria HP1 Familial, autosomal recessive - - - - - Mohamed A. Elmonem 00467574
0000352787 see paper; ... hyperoxaluria HP1 Familial, autosomal recessive - - - - - Mohamed A. Elmonem 00467575
0000352788 see paper; ... hyperoxaluria HP1 Familial, autosomal recessive - - - - - Mohamed A. Elmonem 00467576
0000352789 see paper; ... hyperoxaluria HP1 Familial, autosomal recessive - - - - - Mohamed A. Elmonem 00467577
0000352790 see paper; ... hyperoxaluria HP1 Familial, autosomal recessive - - - - - Mohamed A. Elmonem 00467578
0000352791 see paper; ... hyperoxaluria HP1 Familial, autosomal recessive - - - - - Mohamed A. Elmonem 00467579
0000352792 see paper; ... hyperoxaluria HP1 Familial, autosomal recessive - - - - - Mohamed A. Elmonem 00467580
0000352793 see paper; ... hyperoxaluria HP1 Familial, autosomal recessive - - - - - Mohamed A. Elmonem 00467581
0000352794 see paper; ... hyperoxaluria HP1 Familial, autosomal recessive - - - - - Mohamed A. Elmonem 00467582
0000352795 see paper; ... hyperoxaluria HP1 Familial, autosomal recessive - - - - - Mohamed A. Elmonem 00467583
0000352796 see paper; ... hyperoxaluria HP1 Familial, autosomal recessive - - - - - Mohamed A. Elmonem 00467584
0000352797 see paper; ... hyperoxaluria HP1 Familial, autosomal recessive - - - - - Mohamed A. Elmonem 00467585
0000352798 see paper; ... hyperoxaluria HP1 Familial, autosomal recessive - - - - - Mohamed A. Elmonem 00467586
0000352799 see paper; ... hyperoxaluria HP1 Familial, autosomal recessive - - - - - Mohamed A. Elmonem 00467587
0000352800 see paper; ... hyperoxaluria HP1 Familial, autosomal recessive - - - - - Mohamed A. Elmonem 00467588
0000352801 see paper; ... hyperoxaluria HP1 Familial, autosomal recessive - - - - - Mohamed A. Elmonem 00467589
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