| HPO |
HP:0000852 |
Pseudohypoparathyroidism |
"A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone." [HPO:probinson] |
— |
HP:0011767 |
| HPO |
HP:0000853 |
Goiter |
"An enlargement of the thyroid gland." [HPO:probinson] |
— |
HP:0011772 |
| HPO |
HP:0000854 |
Thyroid adenoma |
"The presence of a adenoma of the thyroid gland." [HPO:probinson] |
— |
HP:0100031 |
| HPO |
HP:0000855 |
Insulin resistance |
"Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels." [HPO:probinson] |
— |
HP:0011014 |
| HPO |
HP:0000857 |
Neonatal insulin-dependent diabetes mellitus |
— |
— |
HP:0000831 |
| HPO |
HP:0000858 |
Irregular menstruation |
"Abnormally high variation in the amount of time between periods." [PMID:29323693] |
Most women have between 11 and 13 menstrual periods each year. Bleeding usually lasts around 5 days (range: 2 to 7 days). When menstruation first starts, it can take up to 2 years to establish a regular cycle. After puberty, most women's menstruation is regular. The length of time between each period is similar. The normal menstrual cycle length is 28 (+/- 7) days days with the menstruation lasting between 2 and 7 days. It can take up to 2 years from menarche to develop a mature hypothalamic-pituitary-gonadal (HPG) axis. Within 1 year, 75 percent of girls have a cycle between 21 and 45 days. By the fifth gynecological year, 90 percent of girls will have regular cycles. |
HP:0000140 |
| HPO |
HP:0000859 |
Hyperaldosteronism |
"Overproduction of the mineralocorticoid aldosterone by the adrenal cortex." [DDD:spark, HPO:probinson] |
— |
HP:0002717 |
| HPO |
HP:0000860 |
Parathyroid hypoplasia |
"Developmental hypoplasia of the parathyroid gland." [HPO:probinson] |
— |
HP:0011768 |
| HPO |
HP:0000863 |
Central diabetes insipidus |
"A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus." [HPO:curators] |
— |
HP:0000873, HP:0011751 |
| HPO |
HP:0000864 |
Abnormality of the hypothalamus-pituitary axis |
"Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit." [DDD:spark] |
— |
HP:0000818 |
| HPO |
HP:0000866 |
Euthyroid multinodular goiter |
— |
— |
HP:0009798 |
| HPO |
HP:0000867 |
Secondary hyperparathyroidism |
"Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia." [HPO:probinson, PMID:19836494] |
Secondary hyperparathyroidism occurs most commonly secondary to chronic renal failure. Other causes of secondary hyperparathyroidism include osteomalacia, rickets, and malabsorption. The pathophysiology of secondary hyperparathyroidism results from abnormalities in the renal tubular absorption of phosphate with reduced phosphate excretion and hyperphosphatemia, as well as impaired renal conversion of 25-hydroxycholecalciferal to 1,25-dihydroxycholecalciferol, which in turn leads to a decrease in the intestinal absorption of calcium. In combination, elevated serum phosphate levels and reduced vitamin D production result in decreases in serum calcium levels or hypocalcemia, leading to hyperparathyroidism. |
HP:0000843 |
| HPO |
HP:0000868 |
Decreased fertility in females |
— |
— |
HP:0000144 |
| HPO |
HP:0000869 |
Secondary amenorrhea |
— |
— |
HP:0000141 |
| HPO |
HP:0000870 |
Increased circulating prolactin concentration |
"The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy." [DDD:spark, HPO:probinson] |
— |
HP:0010514 |
| HPO |
HP:0000871 |
Panhypopituitarism |
"A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin)." [HPO:probinson, PMID:12466332] |
— |
HP:0000830 |
| HPO |
HP:0000872 |
Hashimoto thyroiditis |
"A chronic, autoimmune type of thyroiditis associated with hypothyroidism." [HPO:probinson] |
— |
HP:0002960, HP:0100646 |
| HPO |
HP:0000873 |
Diabetes insipidus |
"A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus)." [HPO:curators] |
— |
HP:0000818 |
| HPO |
HP:0000875 |
Episodic hypertension |
— |
— |
HP:0000822 |
| HPO |
HP:0000876 |
Oligomenorrhea |
"Infrequent menses (less than 6 per year or more than 35 days between cycles)." [HPO:probinson, PMID:22594864] |
— |
HP:0000140 |
| HPO |
HP:0000877 |
Insulin-resistant diabetes mellitus at puberty |
— |
— |
HP:0000831 |
| HPO |
HP:0000878 |
11 pairs of ribs |
"Presence of only 11 pairs of ribs." [HPO:probinson] |
Normally, there are 12 pairs of ribs. |
HP:0000921 |
| HPO |
HP:0000879 |
Short sternum |
"Decreased inferosuperior length of the sternum." [HPO:probinson] |
— |
HP:0006714 |
| HPO |
HP:0000882 |
Hypoplastic scapulae |
"Underdeveloped scapula." [HPO:probinson] |
— |
HP:0006713 |
| HPO |
HP:0000883 |
Thin ribs |
"Ribs with a reduced diameter." [HPO:probinson] |
— |
HP:0000772 |