HPO |
HP:0002890 |
Thyroid carcinoma |
"The presence of a carcinoma of the thyroid gland." [HPO:probinson] |
— |
HP:0100031 |
HPO |
HP:0002891 |
Uterine leiomyosarcoma |
"The presence of a leiomyosarcoma of the uterus." [HPO:probinson] |
Leiomyosarcoma is a malignant tumor derived form pluripotential mesenchymal stem cells or smooth muscle cells [MPATH]. |
HP:0010784, HP:0100243 |
HPO |
HP:0002893 |
Pituitary adenoma |
"A benign epithelial tumor derived from intrinsic cells of the adenohypophysis." [DDD:spark] |
In most cases pituitary adenoma are histologically benign, slow-growing, small neoplasms confined to the sella turcica. Some pituitary adenomas are more aggressive, grow faster, invade surrounding tissues, and cause local symptoms such as visual disturbances, headache, and varying degrees of hypopituitarism. |
HP:0011750 |
HPO |
HP:0002894 |
Neoplasm of the pancreas |
"A tumor (abnormal growth of tissue) of the pancreas." [HPO:probinson] |
— |
HP:0001732, HP:0011793 |
HPO |
HP:0002895 |
Papillary thyroid carcinoma |
"The presence of a papillary adenocarcinoma of the thyroid gland." [HPO:probinson] |
— |
HP:0002890 |
HPO |
HP:0002896 |
Neoplasm of the liver |
"A tumor (abnormal growth of tissue) of the liver." [HPO:probinson] |
— |
HP:0001392, HP:0007378 |
HPO |
HP:0002897 |
Parathyroid adenoma |
"A benign tumor of the parathyroid gland that can cause hyperparathyroidism." [HPO:probinson] |
— |
HP:0100733 |
HPO |
HP:0002898 |
Embryonal neoplasm |
— |
— |
HP:0011792 |
HPO |
HP:0002900 |
Hypokalemia |
"An abnormally decreased potassium concentration in the blood." [HPO:probinson] |
— |
HP:0011042 |
HPO |
HP:0002901 |
Hypocalcemia |
"An abnormally decreased calcium concentration in the blood." [HPO:curators] |
— |
HP:0004363 |
HPO |
HP:0002902 |
Hyponatremia |
"An abnormally decreased sodium concentration in the blood." [HPO:probinson] |
— |
HP:0010931 |
HPO |
HP:0002904 |
Hyperbilirubinemia |
"An increased amount of bilirubin in the blood." [HPO:probinson] |
— |
HP:0033479 |
HPO |
HP:0002905 |
Hyperphosphatemia |
"An abnormally increased phosphate concentration in the blood." [HPO:gcarletti] |
— |
HP:0100529 |
HPO |
HP:0002907 |
Microscopic hematuria |
"Microscopic hematuria detected by dipstick or microscopic examination of the urine." [HPO:sdoelken] |
— |
HP:0000790 |
HPO |
HP:0002908 |
Conjugated hyperbilirubinemia |
— |
— |
HP:0002904 |
HPO |
HP:0002909 |
Generalized aminoaciduria |
"An increased concentration of all types of amino acid in the urine." [HPO:probinson] |
This abnormality is distinct from aminoacidurias in which the urinary concentration of a single amino acid, or a of single group of amino acids, is increased. |
HP:0003355 |
HPO |
HP:0002910 |
Elevated hepatic transaminase |
"Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:probinson] |
— |
HP:0012379 |
HPO |
HP:0002912 |
Methylmalonic acidemia |
"Increased concentration of methylmalonic acid in the blood." [HPO:probinson, PMID:26101005] |
Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. |
HP:0004341, HP:0010995, HP:0032368 |
HPO |
HP:0002913 |
Myoglobinuria |
"Presence of myoglobin in the urine." [HPO:probinson] |
Myoglobinuria is usually associated with rhabdomyolysis or muscle destruction. |
HP:0033354 |
HPO |
HP:0002914 |
Hyperchloriduria |
"An increased concentration of chloride in the urine." [HPO:probinson] |
— |
HP:0012600 |
HPO |
HP:0002916 |
Abnormality of chromosome segregation |
"An abnormality of chromosome segregation." [HPO:probinson] |
— |
HP:0011017 |
HPO |
HP:0002917 |
Hypomagnesemia |
"An abnormally decreased magnesium concentration in the blood." [HPO:probinson] |
— |
HP:0004921 |
HPO |
HP:0002918 |
Hypermagnesemia |
"An abnormally increased magnesium concentration in the blood." [HPO:probinson] |
— |
HP:0004921 |
HPO |
HP:0002919 |
Ketonuria |
"High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state." [HPO:probinson, PMID:11344564] |
Acetone is the main component of the ketone bodies. |
HP:0033354 |
HPO |
HP:0002920 |
Decreased circulating ACTH level |
"An abnormal reduction in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood." [HPO:probinson] |
— |
HP:0011043 |