Phenotypes for disease #02437

11 entries on 1 page. Showing entries 1 - 11.
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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     
0000043000 see paper, extensive description - - Isolated (sporadic) 18y - 03y weight loss, recurrent urinary tract infections - Johan den Dunnen 00056391
0000043007 no history of rickets (-HP:0002748), hypercalciuria (HP:0002150), arterial pH 7.12, serum HCO3- 11.0mM, serum K+ 3.1mM, urine pH 7.0 - - Isolated (sporadic) 09y 01y - - - Johan den Dunnen 00056393
0000043008 no history of rickets (-HP:0002748), hypercalciuria (HP:0002150), arterial pH 7.10, serum HCO3- 5.5mM, serum K+ 2.4mM, urine pH 8.0 - - Isolated (sporadic) 4y6m 21d - - - Johan den Dunnen 00056394
0000043009 history of rickets (HP:0002748), hypercalciuria (HP:0002150), arterial pH 7.25, serum HCO3- 12.0mM, serum K+ 32.7mM, urine pH 7.6 - - Isolated (sporadic) 4y 7d - - - Johan den Dunnen 00056395
0000043010 no history of rickets (-HP:0002748), hypercalciuria (HP:0002150), arterial pH 7.10, serum HCO3- 12.0mM, serum K+ 2.8mM, urine pH 7.5 - - Isolated (sporadic) 12y 3m - - - Johan den Dunnen 00056396
0000043011 history of rickets (HP:0002748), hypercalciuria (HP:0002150), arterial pH 7.23, serum HCO3- 16.0mM, serum K+ 2.1mM, urine pH 6.8 - - Isolated (sporadic) 2y6m 8m - - - Johan den Dunnen 00056397
0000043012 no history of rickets (-HP:0002748), no hypercalciuria (-HP:0002150), arterial pH 7.10, serum HCO3- 5.5mM, serum K+ 2.2mM, urine pH 7.0 - - Isolated (sporadic) 9y 3m - - - Johan den Dunnen 00056398
0000043013 no history of rickets (-HP:0002748), hypercalciuria (HP:0002150), arterial pH 7.21, serum HCO3- 14.0mM, serum K+ 2.8mM, urine pH 7.5 - - Isolated (sporadic) - 5m - - - Johan den Dunnen 00056399
0000043014 no history of rickets (-HP:0002748), hypercalciuria (HP:0002150), arterial pH 7.20, serum HCO3- 7.6mM, serum K+ 3.0mM, urine pH 7.0 - - Isolated (sporadic) 7y 3y - - - Johan den Dunnen 00056400
0000043015 history of rickets (HP:0002748), no hypercalciuria (-HP:0002150), arterial pH 7.10, serum HCO3- 6.1mM, serum K+ 2.1mM, urine pH 7.0 - - Isolated (sporadic) 1y 6m - - - Johan den Dunnen 00056401
0000060566 Renal tubular acidosis, distal, autosomal recessive (OMIM:602722) - - Familial, autosomal recessive - - - - - Daniel Trujillano 00080997
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