From HPO
Hematocolpos- MedGen UID:
- 5482
- •Concept ID:
- C0018934
- •
- Disease or Syndrome
Accumulation of blood in the vagina usually due to vaginal obstruction.
Polycystic ovaries- MedGen UID:
- 10836
- •Concept ID:
- C0032460
- •
- Disease or Syndrome
Polycystic ovary syndrome is a condition that affects women in their child-bearing years and alters the levels of multiple hormones, resulting in problems affecting many body systems.\n\nMost women with polycystic ovary syndrome produce excess male sex hormones (androgens), a condition called hyperandrogenism. Having too much of these hormones typically leads to excessive body hair growth (hirsutism), acne, and male pattern baldness.\n\nHyperandrogenism and abnormal levels of other sex hormones prevent normal release of egg cells from the ovaries (ovulation) and regular menstrual periods, leading to difficulty conceiving a child (subfertility) or a complete inability to conceive (infertility). For those who achieve pregnancy, there is an increased risk of complications and pregnancy loss. Due to irregular and infrequent menstruation and hormone abnormalities, affected women have an increased risk of cancer of the uterine lining (endometrial cancer).\n\nIn polycystic ovary syndrome, one or both ovaries can contain multiple small, immature ovarian follicles that can appear as cysts on medical imaging. Normally, ovarian follicles contain egg cells, which are released during ovulation. In polycystic ovary syndrome, abnormal hormone levels prevent follicles from growing and maturing to release egg cells. Instead, these immature follicles accumulate in the ovaries. Affected women can have 12 or more of these follicles. The number of these follicles usually decreases with age.\n\nAbout half of all women with polycystic ovary syndrome are overweight or have obesity and are at increased risk of a fatty liver. Additionally, many women with polycystic ovary syndrome have elevated levels of insulin, which is a hormone that helps control levels of blood glucose, also called blood sugar. By age 40, about 10 percent of overweight women with polycystic ovary syndrome develop abnormally high blood glucose levels (type 2 diabetes), and up to 35 percent develop prediabetes (higher-than-normal blood glucose levels that do not reach the cutoff for diabetes). Obesity and increased insulin levels (hyperinsulinemia) further increase the production of androgens in polycystic ovary syndrome.\n\nWomen with polycystic ovary syndrome are also at increased risk for developing metabolic syndrome, which is a group of conditions that include high blood pressure (hypertension), increased belly fat, high levels of unhealthy fats and low levels of healthy fats in the blood, and high blood glucose levels. About 20 percent of affected adults experience pauses in breathing during sleep (sleep apnea). Women with polycystic ovary syndrome are more likely than women in the general popluation to have mood disorders such as depression.
Primary amenorrhea- MedGen UID:
- 115918
- •Concept ID:
- C0232939
- •
- Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.
Unilateral aplasia of the mullerian ducts- MedGen UID:
- 78600
- •Concept ID:
- C0266389
- •
- Congenital Abnormality
A uterus that has a single horn, with a banana-like shape that may or may not have a secondary rudimentary uterine horn.
Uterine hypoplasia- MedGen UID:
- 120575
- •Concept ID:
- C0266399
- •
- Congenital Abnormality
Underdevelopment of the uterus.
Aplasia of the uterus- MedGen UID:
- 98421
- •Concept ID:
- C0425913
- •
- Finding
Aplasia of the uterus.
Aplasia of the vagina- MedGen UID:
- 330738
- •Concept ID:
- C1841990
- •
- Finding
Aplasia of the vagina.
Multicystic kidney dysplasia- MedGen UID:
- 811388
- •Concept ID:
- C3714581
- •
- Disease or Syndrome
Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.
Reduced renal corticomedullary differentiation- MedGen UID:
- 813461
- •Concept ID:
- C3807131
- •
- Finding
Reduced differentiation between renal cortex and medulla on diagnostic imaging.
Renal cyst- MedGen UID:
- 854361
- •Concept ID:
- C3887499
- •
- Disease or Syndrome
A fluid filled sac in the kidney.
Abnormal female external genitalia morphology- MedGen UID:
- 867445
- •Concept ID:
- C4021822
- •
- Anatomical Abnormality
Any structural abnormality of the female external genitalia.
Aplasia of the upper vagina- MedGen UID:
- 868394
- •Concept ID:
- C4022788
- •
- Anatomical Abnormality
A failure to develop of the upper vagina.
Renal medullary hyperechogenicity- MedGen UID:
- 1757337
- •Concept ID:
- C5421631
- •
- Finding
Increased echogenecity of the medullary region of the kidney.
Downslanted palpebral fissures- MedGen UID:
- 98391
- •Concept ID:
- C0423110
- •
- Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Sparse lateral eyebrow- MedGen UID:
- 387768
- •Concept ID:
- C1857206
- •
- Finding
Decreased density/number and/or decreased diameter of lateral eyebrow hairs.
- Abnormality of head or neck
- Abnormality of the genitourinary system