eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| cushing syndrome | ||||
| Disease ID | 480 |
|---|---|
| Disease | cushing syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:22) C2707258 | infections C2364072 | depression C1963274 | vasculitis C1963138 | hypertension C1442863 | third nerve paresis C1392499 | cholesterolemia C1384514 | primary aldosteronism C1336746 | carcinoid tumor of the thymus C0858734 | insulin hypoglycemia C0598639 | hypercortisolemia C0376293 | stigmata C0280089 | pulmonary carcinoid tumor C0271650 | glucose intolerance C0233401 | psychiatric symptoms C0206667 | adrenal adenoma C0155616 | secondary hypertension C0032000 | adenoma of pituitary gland C0030552 | muscle pareses C0027709 | nephrocalcinosis C0016065 | polyostotic fibrous dysplasia C0014013 | pyothorax C0004936 | mental disorders |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:23) C0020538 | hypertension | 10 C0001430 | adenoma | 7 C0001622 | hypercortisolism | 6 C0206667 | adrenal adenoma | 4 C0028754 | obesity | 4 C0020456 | hyperglycemia | 4 C0206667 | adrenocortical adenoma | 4 C0598639 | hypercortisolemia | 3 C0398623 | hypercoagulable state | 2 C0029456 | osteoporosis | 2 C0398623 | hypercoagulability | 2 C0342494 | adrenocortical hyperplasia | 2 C0242343 | panhypopituitarism | 1 C0020598 | hypoglycemia | 1 C1384514 | primary aldosteronism | 1 C1336746 | carcinoid tumor of the thymus | 1 C0031511 | pheochromocytoma | 1 C0033975 | psychosis | 1 C0002949 | dissecting aneurysm | 1 C0007222 | cardiovascular disease | 1 C0342494 | adrenal cortical hyperplasia | 1 C0032000 | pituitary adenoma | 1 C0001231 | ectopic acth secretion | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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Text Mining Genotype(Total Genotypes:0) | |
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All Snps(Total Genotypes:0) | |
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GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:14) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000963 | Thin skin | MP:0010678 | abnormal skin adnexa morphology | any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails |
| HP:0000311 | Round face | MP:0012546 | triangular face | a face whose lower half becomes relatively thin, approaching an appearance of a triangle with a tip facing downwards; usually associated with a prominent forehead and micrognathia |
| HP:0007552 | Abnormal subcutaneous fat tissue distribution | MP:0002086 | abnormal extraembryonic tissue morphology | any structural anomaly of the membranes involved with embryonic protection and nutrition |
| HP:0001956 | Truncal obesity | MP:0005659 | decreased susceptibility to diet-induced obesity | less likely to become excessively overweight or to increase fat in the subcutaneous connective tissue as a result of consuming a diet geared to increase body fat |
| HP:0004295 | Abnormality of the gastric mucosa | MP:0004500 | increased incidence of tumors by ionizing radiation induction | higher than normal frequency of tumor incidence induced by radiation in which the individual particle or photon carries sufficient energy to completely remove an electron from its orbit; common types of this radiation include gamma-rays and X-rays |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0000144 | Decreased fertility | MP:0008975 | delayed male fertility | ability of a male organism to produce live offspring occurring at a later than expected age |
| HP:0100631 | Neoplasm of the adrenal gland | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0001644 | Dilated cardiomyopathy | MP:0005330 | cardiomyopathy | diseases of the heart (myocardium); may result from many causes |
| HP:0010978 | Abnormality of immune system physiology | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0010885 | Aseptic necrosis | MP:0001654 | hepatic necrosis | morphological changes resulting from pathological death of liver tissue; usually due to irreversible damage |
| HP:0100585 | Telangiectasia of the skin | MP:0011022 | abnormal circadian regulation of systemic arterial blood pressure | any anomaly in the process in which an organism modulates its blood pressure at different values with a regularity of approximately 24 hours |
| HP:0000978 | Bruising susceptibility | MP:0005596 | increased susceptibility to type I hypersensitivity reaction | greater likelihood of developing a response manifested by localized or generalized reaction that occurs immediately (minutes) after exposure to an antigen to which the person/animal was previously sensitized; it is IgE-mediated, and mast cell activation a |
| HP:0002757 | Recurrent fractures | MP:0004675 | rib fractures | a crack or break in the bones forming the bony wall of the chest |
Mapped by homologous gene(Total Items:41) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001578 | Hypercortisolism | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000739 | Anxiety | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000978 | Bruising susceptibility | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0007552 | Abnormal subcutaneous fat tissue distribution | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| HP:0100639 | Erectile abnormalities | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0002360 | Sleep disturbance | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0001061 | Acne | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0004372 | Reduced consciousness/confusion | MP:0013405 | increased circulating lactate level | greater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase |
| HP:0002900 | Hypokalemia | MP:0014206 | decreased intestinal epithelial sodium ion transmembrane transport | |
| HP:0004295 | Abnormality of the gastric mucosa | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000518 | Cataract | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001510 | Growth delay | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0003072 | Hypercalcemia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000819 | Diabetes mellitus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100631 | Neoplasm of the adrenal gland | MP:0012498 | abnormal cardiogenic plate morphology | any structural anomaly of the splanchnic mesodermal thickening which forms cranial and lateral to the developing neural plate; angiogenic cell clusters (aka angioblastic cords) located in a horse-shoe shape configuration in the cardiogenic plate coalesce |
| HP:0000939 | Osteoporosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0012378 | Fatigue | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0002230 | Generalized hirsutism | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001644 | Dilated cardiomyopathy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002757 | Recurrent fractures | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0010885 | Aseptic necrosis | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0001065 | Striae distensae | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000963 | Thin skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003198 | Myopathy | MP:0020280 | increased creatine kinase level | increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine |
| HP:0000737 | Irritability | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000787 | Nephrolithiasis | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000709 | Psychosis | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001956 | Truncal obesity | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0000311 | Round face | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000869 | Secondary amenorrhea | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0010978 | Abnormality of immune system physiology | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000979 | Purpura | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0000716 | Depression | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000858 | Menstrual irregularities | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0003124 | Hypercholesterolemia | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0100585 | Telangiectasia of the skin | MP:0014127 | increased thymoma incidence | greater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseas |
| HP:0002902 | Hyponatremia | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0000822 | Hypertension | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0000144 | Decreased fertility | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| Disease ID | 480 |
|---|---|
| Disease | cushing syndrome |
| Case | (Waiting for update.) |