eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| acromegaly | ||||
| Disease ID | 245 |
|---|---|
| Disease | acromegaly |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:180) C2700478 | meningioma C2697384 | colon cancer C2697383 | osteosarcoma C2364118 | weakness C2239136 | laryngocele C2186538 | thyroid disease C2096315 | headache C1963138 | hypertension C1963123 | valvular heart disease C1962986 | glaucoma C1859974 | acth resistance C1839611 | n syndrome C1740816 | thoracic disc herniation C1739363 | prostatic hyperplasia C1706412 | lipemia C1706412 | lipaemia C1659989 | respiratory problem C1555754 | cardiovascular disease C1527344 | dysphonia C1527249 | colorectal cancer C1521999 | acute myocardial infarction C1512411 | hepatocellular carcinoma C1504665 | diabetic ketoacidosis C1402315 | vascular lesions C1397682 | phosphatemia C1393529 | vascular complications C1384666 | hearing impairment C1384514 | conn's syndrome C1337013 | differentiated thyroid carcinoma C1336893 | bladder villous adenoma C1313980 | ischemic heart disease C1313952 | periodic respiration C1313949 | hypoglobulinemia C1262113 | lipohypertrophy C1260922 | breathing abnormalities C0917799 | hypersomnia C0878544 | cardiomyopathy C0856169 | endothelial dysfunction C0850572 | adenomatous colonic polyps C0796561 | melanoma C0796095 | c syndrome C0741949 | cardiovascular pathology C0740852 | upper airway obstruction C0728936 | circulatory disorders C0699791 | cancer of the stomach C0599750 | hormone deficiency C0595921 | intraocular pressure C0581883 | deafness C0574960 | sacroiliitis C0554400 | galactorrhea C0549473 | thyroid carcinoma C0549473 | thyroid cancer C0520680 | central sleep apnea C0520679 | obstructive sleep apnoea C0520679 | obstructive sleep apnea C0519097 | left ventricular aneurysm C0451641 | urolithiasis C0442874 | neuropathy C0427008 | stiffness C0426768 | o sign C0392775 | cystic medial necrosis C0376480 | gingival enlargement C0376293 | stigmata C0346308 | pituitary macroadenoma C0346302 | gh-secreting pituitary adenomas C0271650 | glucose intolerance C0266075 | mandibular prognathism C0264733 | ventricular dilatation C0263442 | acne conglobata C0263417 | cutis verticis gyrata C0259779 | fibrous dysplasia C0242339 | dyslipidemia C0242292 | mccune-albright syndrome C0242292 | albright's syndrome C0242292 | albright syndrome C0240318 | mediastinal mass C0235401 | abnormal glucose tolerance C0233397 | psychological symptoms C0232306 | left ventricular hypertrophy C0221777 | nontoxic goiter C0221002 | primary hyperparathyroidism C0162323 | polyarthritis C0154830 | proliferative diabetic retinopathy C0152025 | polyneuropathy C0151517 | third degree heart block C0149682 | excessive growth hormone secretion C0149645 | cervical myelopathy C0085669 | acute leukaemia C0042961 | volvulus C0040156 | thyrotoxicosis C0040137 | thyroid nodules C0040128 | thyroid diseases C0037944 | spinal stenosis C0037315 | sleep apnoea C0037315 | sleep apnea syndrome C0037315 | sleep apnea C0037285 | skin manifestations C0036939 | induced psychosis C0036631 | seminoma C0036454 | visual field loss C0036454 | visual field defects C0036341 | schizophrenia C0034887 | rectal polyps C0034372 | quadriplegia C0033975 | psychoses C0033575 | prostate diseases C0033375 | prolactinoma C0032463 | polycythemia vera C0032019 | pituitary tumors C0032001 | pituitary apoplexy C0032000 | pituitary adenomas C0032000 | pituitary adenoma C0029089 | ophthalmoplegia C0026848 | myopathy C0026848 | muscle disease C0026266 | mitral regurgitation C0025202 | malignant melanoma C0024305 | non-hodgkin's lymphoma C0024115 | lung disease C0023787 | lipodystrophy C0023418 | leukaemia C0023075 | laryngeal stenosis C0022408 | arthropathy C0020649 | hypotension C0020639 | hypoproteinemia C0020635 | hypopituitarism C0020619 | hypogonadism C0020502 | hyperparathyroidism C0020488 | sodium retention C0020473 | hyperlipidemia C0020473 | hyperlipidaemia C0020473 | hyperlipemia C0020459 | hyperinsulinemia C0020459 | hyperinsulinaemia C0020457 | hyperosmolar nonketotic coma C0020438 | hypercalciuria C0019270 | herniation C0019158 | hepatitis C0018824 | heart valve disease C0018824 | cardiac valve disease C0018801 | cardiac insufficiency C0018799 | heart disease C0018022 | simple goiter C0018021 | struma C0018021 | goitre C0018021 | goiter C0017668 | focal segmental glomerulosclerosis C0017547 | gigantism C0017155 | menetrier's disease C0017152 | gastritis C0017075 | gangliocytomas C0017075 | gangliocytoma C0015397 | eye disorders C0011884 | diabetic retinopathy C0011860 | diabetes C0011849 | diabetes mellitus C0010068 | coronary heart disease C0010054 | coronary atherosclerosis C0009404 | colorectal neoplasm C0009402 | colorectal carcinoma C0009375 | colonic neoplasms C0007286 | carpal tunnel syndrome C0007193 | dilated cardiomyopathy C0007120 | bronchioloalveolar carcinomas C0007114 | skin cancer C0007102 | cancer of colon C0007095 | carcinoid tumour C0006705 | calcium metabolism disorders C0005940 | bone disorder C0004936 | mental disorders C0004604 | backache C0004153 | atherosclerosis C0003864 | arthritis C0003496 | aortic rupture C0001883 | airways obstruction C0001883 | airway obstruction C0001433 | eosinophilic adenomas C0001433 | eosinophilic adenoma C0001430 | adenoma C0001418 | adenocarcinoma |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:51) C0011847 | diabetes | 7 C0001430 | adenoma | 6 C0032000 | pituitary adenoma | 6 C0020538 | hypertension | 6 C0022408 | arthropathy | 5 C0346308 | pituitary macroadenoma | 5 C0020619 | hypogonadism | 3 C0037315 | sleep apnea | 3 C0007222 | cardiovascular disease | 3 C0878544 | cardiomyopathy | 3 C0007115 | thyroid cancer | 3 C0032000 | pituitary adenomas | 2 C1527263 | prostatic hyperplasia | 2 C0011849 | diabetes mellitus | 2 C0520679 | obstructive sleep apnea | 2 C0040128 | thyroid disease | 2 C0032019 | pituitary tumors | 2 C0007193 | dilated cardiomyopathy | 2 C0011880 | diabetic ketoacidosis | 2 C0004153 | atherosclerosis | 2 C0154830 | proliferative diabetic retinopathy | 1 C0033375 | prolactinoma | 1 C1393529 | vascular complications | 1 C0426768 | o sign | 1 C0242339 | dyslipidemia | 1 C0040156 | thyrotoxicosis | 1 C0017075 | gangliocytoma | 1 C0020635 | hypopituitarism | 1 C0427008 | stiffness | 1 C0007102 | colon cancer | 1 C0020438 | hypercalciuria | 1 C0242292 | mccune-albright syndrome | 1 C0040128 | thyroid diseases | 1 C0026266 | mitral regurgitation | 1 C0004093 | weakness | 1 C0242292 | albright syndrome | 1 C0020502 | hyperparathyroidism | 1 C0019158 | hepatitis | 1 C0040137 | thyroid nodules | 1 C0001418 | adenocarcinoma | 1 C0018021 | goiter | 1 C0271650 | glucose intolerance | 1 C0266075 | mandibular prognathism | 1 C0032001 | pituitary apoplexy | 1 C0018799 | heart disease | 1 C0259779 | fibrous dysplasia | 1 C0235660 | galactorrhea | 1 C0011884 | diabetic retinopathy | 1 C0037315 | sleep apnoea | 1 C0221002 | primary hyperparathyroidism | 1 C0023787 | lipodystrophy | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1799998 | 17003099 | 1585 | CYP11B2 | umls:C0001206 | BeFree | CYP11B2 -344T/C gene polymorphism and blood pressure in patients with acromegaly. | 0.000271442 | 2006 | CYP11B2;LOC105375793 | 8 | 142918184 | A | G |
| rs2066853 | 24521362 | 196 | AHR | umls:C0001206 | BeFree | Increased frequency of the rs2066853 variant of aryl hydrocarbon receptor gene in patients with acromegaly. | 0.000271442 | 2014 | AHR | 7 | 17339486 | G | A |
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:19) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001072 | Thickened skin | MP:0009932 | skin fibrosis | invasion of fibrous connective tissue into the skin, often resulting from inflammation or injury |
| HP:0000818 | Abnormality of the endocrine system | MP:0010465 | aberrant origin of the right subclavian artery | the right subclavian artery arises from an atypical location on the aortic arch or the proximal descending aorta |
| HP:0000830 | Anterior hypopituitarism | MP:0003348 | hypopituitarism | reduction or cessation of secretion of one or more hormones from the anterior pituitary gland; this may result from ablation, tumors, infarction, or other trauma |
| HP:0001769 | Broad foot | MP:0008138 | absent podocyte foot process | absence of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries |
| HP:0000276 | Long 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:0000179 | Thick lower lip vermilion | MP:0005170 | cleft upper lip | defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences |
| HP:0000687 | Widely spaced teeth | MP:0004033 | supernumerary teeth | occurrence of more than the usual number of teeth |
| HP:0100540 | Palpebral edema | MP:0001786 | skin edema | accumulation of an excessive amount of fluid in the skin layers or just underneath the skin |
| HP:0001639 | Hypertrophic cardiomyopathy | MP:0005330 | cardiomyopathy | diseases of the heart (myocardium); may result from many causes |
| HP:0006767 | Pituitary prolactin cell adenoma | MP:0013383 | increased sebaceous gland adenoma incidence | greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in any sebaceous gland, occurring in a specific population in a given time period |
| HP:0008388 | Abnormality of the toenails | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0001231 | Abnormality of the fingernails | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0000164 | Abnormality of the teeth | MP:0010382 | abnormal dosage compensation, by inactivation of X chromosome | anomaly in the process of compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex |
| HP:0001386 | Joint swelling | MP:0002936 | joint swelling | enlargement of the joints, usually due to an accumulation of fluid |
| HP:0003416 | Spinal canal stenosis | MP:0010884 | esophagus stenosis | abnormal narrowing or constriction of the esophagus |
| HP:0000280 | Coarse facial features | MP:0008018 | increased facial tumor incidence | greater than the expected number of neoplasms on the face, usually in the form of a distinct mass, in a specific population in a given time period |
| HP:0000080 | Abnormality of reproductive system physiology | MP:0004502 | decreased incidence of tumors by chemical induction | lower than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens |
| HP:0007440 | Generalized hyperpigmentation | MP:0001188 | hyperpigmentation | excess of pigment in any or all tissues or a part of a tissue |
| HP:0000040 | Long penis | MP:0005188 | small penis | reduced size of the organ of copulation and urination in the male |
Mapped by homologous gene(Total Items:55) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100518 | Dysuria | MP:0011414 | erythruria | passage of red colored urine |
| HP:0000739 | Anxiety | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002758 | Osteoarthritis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0006191 | Deep palmar crease | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0001609 | Hoarse voice | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000164 | Abnormality of the teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000802 | Impotence | MP:0012504 | increased forebrain apoptosis | increase in the number of cells of the forebrain undergoing programmed cell death |
| HP:0000303 | Mandibular prognathia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000098 | Tall stature | 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:0003401 | Paresthesia | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0000276 | Long face | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000687 | Widely spaced teeth | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0001072 | Thickened skin | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001061 | Acne | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0004099 | Macrodactyly | MP:0013502 | decreased fibroblast apoptosis | reduction in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0000445 | Wide nose | 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:0001182 | Tapered finger | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0000956 | Acanthosis nigricans | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0001231 | Abnormality of the fingernails | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000819 | Diabetes mellitus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000337 | Broad forehead | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000158 | Macroglossia | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0100829 | Galactorrhea | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0000664 | Synophrys | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001639 | Hypertrophic cardiomyopathy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0008388 | Abnormality of the toenails | MP:0014175 | abnormal ciliary epithelium morphology | any structural anomaly of the double layer lining the inner surfaces of the ciliary processes and the pars plana (i.e. the posterior portion of the ciliary body, aka orbicularis ciliari); the outer layer is the pigmented epithelium, which is composed of l |
| HP:0002230 | Generalized hirsutism | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006767 | Pituitary prolactin cell adenoma | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0000975 | Hyperhidrosis | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0001769 | Broad foot | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0002829 | Arthralgia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000818 | Abnormality of the endocrine system | MP:0013367 | parotid gland inflammation | local accumulation of fluid, plasma proteins, and leukocytes in either of the largest of the major salivary glands situated below and in front of each ear |
| HP:0100540 | Palpebral edema | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0012802 | Broad jaw | MP:0006241 | abnormal placement of pupils | abnormal location of the pupil so that it is not in the center of the iris |
| HP:0007440 | Generalized hyperpigmentation | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0002076 | Migraine | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000179 | Thick lower lip vermilion | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000280 | Coarse facial features | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0100021 | Cerebral palsy | MP:0013026 | decreased Ly6C low monocyte number | decrease in the number of monocytes that express low levels of Ly6C and low MHC class II that represent a subset of patrolling monocytes |
| HP:0001386 | Joint swelling | MP:0013743 | ciliary body hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the thickened portion of the vascular tunic which lies between the choroid and the iris |
| HP:0001653 | Mitral regurgitation | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0003416 | Spinal canal stenosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000400 | Macrotia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000716 | Depression | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001869 | Deep plantar creases | MP:0012080 | chylous ascites | the extravasation of milky triglyceride-rich chyle into the peritoneal cavity; often a secondary symptom of neoplasms |
| HP:0002808 | Kyphosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002007 | Frontal bossing | 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:0000080 | Abnormality of reproductive system physiology | MP:0011160 | dermal-epidermal separation | the appearance of gaps or clefts in the normally continuous junctional interface between the dermis and epidermis |
| HP:0000293 | Full cheeks | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000830 | Anterior hypopituitarism | 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:0010535 | Sleep apnea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000040 | Long penis | MP:0014193 | decreased epididymal cell proliferation | decrease in the expansion rate of any epididymal cell population by cell division |
| 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:0001176 | Large hands | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| Disease ID | 245 |
|---|---|
| Disease | acromegaly |
| Case | (Waiting for update.) |