| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
Show
|
| HP:0000010 | Recurrent urinary tract infections | "Repeated infections of the urinary tract." [HPO:curators] |
Show
|
| HP:0000023 | Inguinal hernia | |
Show
|
| HP:0000112 | Nephropathy | "A nonspecific term referring to disease or damage of the kidneys." [HPO:curators] |
Show
|
| HP:0000121 | Nephrocalcinosis | |
Show
|
| HP:0000545 | Myopia | |
Show
|
| HP:0000547 | Tapetoretinal degeneration | |
Show
|
| HP:0000567 | Chorioretinal coloboma | |
Show
|
| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
Show
|
| HP:0000787 | Kidney stones | |
Show
|
| HP:0000790 | Hematuria | "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators] |
Show
|
| HP:0001116 | Macular coloboma | |
Show
|
| HP:0001537 | Umbilical hernia | "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [HPO:curators] |
Show
|
| HP:0002150 | Hypercalciuria | |
Show
|
| HP:0002917 | Hypomagnesemia | |
Show
|
| HP:0005567 | Renal magnesium wasting | |
Show
|
| HP:0007703 | Abnormal retinal pigmentation | |
Show
|
| HP:0012608 | Hypermagnesiuria | "An increased concentration of magnesium the `urine` (FMA:12274)." [Eurenomics:fschaefer] |
Show
|
| HP:0012622 | Chronic kidney disease | "Functional anomaly of the kidney persisting for at least three months." [Eurenomics:ewuehl] |
Show
|
| HP:0012637 | Renal calcium wasting | "High urine calcium in the presence of hypocalcemia." [HPO:probinson] |
Show
|
| HP:0100530 | Abnormality of calcium-phosphate metabolism | |
Show
|
