Research Article
Single-Cell Gene Expression Analysis in Patients with Medullary Sponge Kidney and a Retrospective Study
Table 2
Human phenotypes related to medullary sponge kidney.
| | Description | HPO frequency | Orphanet frequency | HPO source accession |
| | Nephrolithiasis | Hallmark (90%) | Very frequent (80-99%) | HP:0000787 | | Hematuria | Frequent (33%) | Frequent (30-79%) | HP:0000790 | | Hypercalciuria | Frequent (33%) | Frequent (30-79%) | HP:0002150 | | Distal renal tubular acidosis | Frequent (33%) | Frequent (30-79%) | HP:0008341 | | Hemihypertrophy | Occasional (7.5%) | Occasional (5-29%) | HP:0001528 |
|
|
