| HPO |
HP:0000114 |
Proximal tubulopathy |
"Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle." [HPO:probinson] |
— |
HP:0000124 |
| HPO |
HP:0000117 |
Renal phosphate wasting |
"High urine phosphate in the presence of hypophosphatemia." [HPO:probinson] |
— |
HP:0012599 |
| HPO |
HP:0000118 |
Phenotypic abnormality |
"A phenotypic abnormality." [HPO:probinson] |
This is the root of the phenotypic abnormality subontology of the HPO. |
HP:0000001 |
| HPO |
HP:0000119 |
Abnormality of the genitourinary system |
"The presence of any abnormality of the genitourinary system." [HPO:curators] |
— |
HP:0000118 |
| HPO |
HP:0000121 |
Nephrocalcinosis |
"Nephrocalcinosis is the deposition of calcium salts in renal parenchyma." [HPO:probinson] |
Nephrocalcinosis can be intratubular or interstitial, and can be diagnosed by means of a radiologic exam (plain radiographs, ultrasonograms, or computed tomography scans) or via microscopic examination of the renal tissues. The term nephrocalcinosis most often applies to a generalized increase in renal calcium content. |
HP:0012210 |
| HPO |
HP:0000122 |
Unilateral renal agenesis |
"A unilateral form of agenesis of the kidney." [HPO:probinson] |
— |
HP:0000104 |
| HPO |
HP:0000123 |
Nephritis |
"The presence of inflammation affecting the kidney." [HPO:probinson] |
— |
HP:0012211, HP:0012649 |
| HPO |
HP:0000124 |
Renal tubular dysfunction |
"Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid." [] |
— |
HP:0012211 |
| HPO |
HP:0000125 |
Pelvic kidney |
"A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis." [HPO:probinson] |
— |
HP:0000086 |
| HPO |
HP:0000126 |
Hydronephrosis |
"Severe distention of the kidney with dilation of the renal pelvis and calices." [HPO:probinson] |
Hydronephrosis can be caused by reflux or by retrograde pressure on the kidney when the flow of urine is obstructed. |
HP:0010946 |
| HPO |
HP:0000127 |
Renal salt wasting |
"A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s)." [Eurenomics:fschaefer] |
— |
HP:0012591 |
| HPO |
HP:0000128 |
Renal potassium wasting |
"High urine potassium in the presence of hypokalemia." [HPO:probinson] |
A urine potassium assay can be used to determine the cause of reduced serum potassium (hypokalemia). Normally, the kidney will reabsorb more potassium in the presence of hypokalemia. Therefore, a low urine potassium can suggest gastrointestinal potassium loss, poor dietary intake, or a shift of potassium from the extracellular to the intracellular space. On the other hand, a high urine potassium in the face of low serum potassium indicated renal loss, referred to as renal potassium wasting. |
HP:0012598 |
| HPO |
HP:0000130 |
Abnormality of the uterus |
"An abnormality of the uterus." [HPO:probinson] |
— |
HP:0000008 |
| HPO |
HP:0000131 |
Uterine leiomyoma |
"The presence of a leiomyoma of the uterus." [HPO:probinson] |
Leiomyoma is a benign neoplasm derived from smooth muscle cells. |
HP:0010784 |
| HPO |
HP:0000132 |
Menorrhagia |
"Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days." [HPO:probinson, PMID:22594864] |
— |
HP:0000140, HP:0001892 |
| HPO |
HP:0000133 |
Gonadal dysgenesis |
— |
— |
HP:0000812 |
| HPO |
HP:0000134 |
Female hypogonadism |
"Decreased functionality of the female gonads, i.e., of the ovary." [HPO:probinson] |
— |
HP:0000135, HP:0031066 |
| HPO |
HP:0000135 |
Hypogonadism |
"A decreased functionality of the gonad." [HPO:curators] |
Reduced functioning of the gonads (ovaries or testes) with reduced production of sex hormones. |
HP:0000080, HP:0008373 |
| HPO |
HP:0000136 |
Bifid uterus |
"The presence of a bifid uterus." [HPO:probinson] |
A uterus that is divided into two lateral horns as a result of imperfect fusion of the paramesonephric ducts. |
HP:0031105 |
| HPO |
HP:0000137 |
Abnormality of the ovary |
"An abnormality of the ovary." [HPO:probinson] |
— |
HP:0000008 |
| HPO |
HP:0000138 |
Ovarian cyst |
"The presence of one or more cysts of the ovary." [HPO:probinson] |
— |
HP:0031065 |
| HPO |
HP:0000139 |
Uterine prolapse |
"The presence of prolapse of the uterus." [HPO:probinson] |
The uterus (womb) is normally held in place by a muscles, tissue and ligaments. If these tissues can no longer support the uterus it can slip down from its normal position. |
HP:0031105, HP:0100823 |
| HPO |
HP:0000140 |
Abnormality of the menstrual cycle |
"An abnormality of the ovulation cycle." [HPO:probinson, PMID:23281358] |
— |
HP:0030012 |
| HPO |
HP:0000141 |
Amenorrhea |
"Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months." [PMID:22594864] |
— |
HP:0000140 |
| HPO |
HP:0000142 |
Abnormal vagina morphology |
"Any structural abnormality of the vagina." [HPO:probinson] |
— |
HP:0000008 |