eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| scleroderma | ||||
| Disease ID | 475 |
|---|---|
| Disease | scleroderma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:234) C2717757 | susac's syndrome C2712340 | dyspnea C2678504 | osteoporosis C2609253 | macrovascular disease C2598155 | pain C2364133 | infection C2364118 | weakness C2364072 | depression C2243088 | haemorrhagic gastritis C2187990 | impotence C2186530 | kidney disease C2107731 | cold intolerance C2039684 | systemic symptoms C1963248 | telangiectasia C1963220 | pulmonary hypertension C1963165 | malabsorption C1963154 | renal failure C1963138 | hypertension C1963106 | esophagitis C1963079 | restrictive cardiomyopathy C1962986 | glaucoma C1962966 | retinopathy C1961100 | erectile dysfunction C1956346 | coronary artery disease C1704275 | pyomyositis C1695782 | cerebral hypoperfusion C1660219 | analgesia C1619734 | pulmonary arterial hypertension C1562095 | right ventricular systolic dysfunction C1555769 | pulmonary disease C1527429 | uremia C1442837 | myocardial necrosis C1402315 | vascular lesions C1393529 | vascular complications C1368355 | synostosis C1321756 | achalasia C1282916 | secondary raynaud's phenomenon C1262481 | eosinophilic gastroenteritis C1260873 | aortic valve disease C1253937 | pericardial effusion C1145628 | autonomic nervous disorders C1142132 | carnitine deficiency C0948389 | intestinal hypomotility C0919725 | digital necrosis C0919715 | lupus-like syndrome C0917996 | cerebral aneurysms C0917990 | acro-osteolysis C0877147 | cardio-respiratory failure C0857305 | thrombopenic purpura C0856169 | endothelial dysfunction C0852949 | arteriopathy C0852866 | cervical cord compression C0851887 | adenoviral infection C0850666 | helicobacter pylori infection C0752303 | urological manifestations C0748159 | pulmonary involvement C0746669 | myalgias C0699949 | airway disease C0684249 | pulmonary carcinoma C0684249 | lung cancer C0684249 | carcinoma of the lung C0678222 | breast carcinoma C0678222 | breast cancer C0577871 | mitral valve vegetation C0549493 | alveolitis C0521657 | allergic encephalopathy C0442893 | systemic disease C0427008 | stiffness C0426576 | gastrointestinal symptoms C0424755 | fever C0410000 | overlap syndrome C0409679 | seronegative arthritis C0403447 | chronic renal impairment C0403416 | crescentic glomerulonephritis C0376293 | stigmata C0340177 | baritosis C0302858 | protein-losing gastroenteropathy C0279628 | esophageal adenocarcinoma C0279628 | adenocarcinoma of the esophagus C0278140 | severe pain C0276138 | viral myocarditis C0272126 | evans syndrome C0267471 | colon volvulus C0267211 | watermelon stomach C0265122 | pericardial disease C0264886 | conduction disorders C0263908 | acute calcific periarthritis C0263628 | tumoral calcinosis C0263625 | subcutaneous calcification C0263555 | ischemic ulcer C0263481 | hypertrichosis lanuginosa C0263390 | scleromyxedema C0263390 | papular mucinosis C0242770 | bronchiolitis obliterans with organizing pneumonia C0240035 | interstitial pulmonary fibrosis C0240035 | interstitial lung fibrosis C0240035 | interstitial fibrosis C0235527 | right ventricular failure C0235031 | neurological symptoms C0233401 | psychiatric symptoms C0231443 | musculoskeletal symptoms C0221163 | motor disorders C0221155 | systolic hypertension C0221152 | obstipation C0206676 | pulmonary adenomatosis C0206138 | crest syndrome C0206062 | interstitial lung disease C0206061 | interstitial pneumonitis C0206061 | interstitial pneumonia C0198632 | pneumoperitoneum C0162872 | thoracic aortic aneurysm C0162323 | polyarthritis C0155765 | microangiopathy C0154841 | central retinal vein occlusion C0154251 | lipid metabolism disorders C0152452 | pericardial fibrosis C0152171 | primary pulmonary hypertension C0152084 | jaccoud's arthropathy C0151942 | arterial thrombosis C0149931 | migraines C0149781 | spontaneous pneumothorax C0086132 | symptoms of depression C0086132 | depressive symptoms C0085786 | fibrosing alveolitis C0085786 | diffuse interstitial pulmonary fibrosis C0085655 | polymyositis C0085616 | vasospasm C0085278 | antiphospholipid syndrome C0042373 | vascular disorder C0042373 | vascular disease C0041327 | pulmonary tuberculosis C0040034 | thrombocytopenia C0039483 | polymyalgia rheumatica C0039446 | telangiectasias C0039446 | telangiectases C0039445 | hereditary hemorrhagic telangiectasia C0039103 | synovitis C0038454 | cerebral infarction C0037285 | skin manifestations C0037284 | skin lesions C0037284 | skin lesion C0037274 | skin disease C0037116 | silicosis C0036421 | systemic sclerosis C0035229 | respiratory insufficiency C0035204 | respiratory disorders C0034888 | rectal prolapse C0034735 | raynaud's syndrome C0034735 | raynaud's phenomenon C0034734 | raynaud's disease C0034091 | pulmonary veno-occlusive disease C0034088 | pulmonary insufficiency C0034069 | pulmonary fibrosis C0034069 | lung fibrosis C0032708 | porphyria C0032285 | lung inflammation C0032227 | pleural effusions C0031511 | pheochromocytoma syndrome C0031117 | peripheral neuropathy C0030920 | peptic ulcers C0030848 | peyronie's disease C0030809 | pemphigus vulgaris C0030312 | pancytopenia C0029166 | oral manifestations C0029166 | oral manifestation C0027726 | nephrotic syndrome C0027721 | lipoid nephrosis C0027697 | nephritis C0027145 | myxoedema C0027121 | myositis C0026269 | mitral stenosis C0024588 | malignant hypertension C0024314 | lymphoproliferative disorders C0024305 | non-hodgkin's lymphoma C0024299 | lymphoma C0024214 | lymphangiectasis C0024138 | discoid lupus erythematosus C0024115 | pulmonary disorders C0024115 | lung diseases C0024115 | lung disease C0023223 | leg ulcers C0023051 | laryngeal disorders C0022660 | acute renal failure C0022658 | renal disease C0022658 | nephropathy C0022658 | kidney disorders C0022408 | arthropathy C0022116 | ischemia C0022116 | ischaemia C0022073 | iridocyclitis C0021843 | intestinal obstruction C0020502 | hyperparathyroidism C0019080 | hemorrhage C0019079 | hemoptysis C0018991 | hemiplegia C0018824 | cardiac valvular disease C0018799 | heart disease C0018799 | cardiac disease C0017168 | gastroesophageal reflux C0017168 | gastro-oesophageal reflux C0016057 | fibrosarcoma C0015732 | fecal incontinence C0015645 | fasciitis C0015458 | progressive facial hemiatrophy C0014868 | oesophagitis C0014866 | oesophageal stricture C0014866 | esophageal stricture C0014866 | esophageal stenosis C0014858 | oesophageal dysmotility C0014858 | esophageal dysmotility C0014858 | esophageal dyskinesia C0014852 | esophageal dysfunction C0014852 | esophageal disorders C0014852 | esophageal diseases C0014852 | esophageal disease C0011168 | difficulty in swallowing C0008312 | primary biliary cirrhosis C0008031 | chest pain C0007773 | cerebral arteritis C0007688 | central retinal artery occlusion C0007286 | carpal tunnel syndrome C0007177 | cardiac tamponade C0006664 | calcinosis cutis C0006663 | calcinosis C0006444 | bursitis C0005830 | blood protein disorders C0004763 | barrett's esophagus C0003864 | arthritis C0003504 | aortic regurgitation C0003090 | joint ankylosis C0002880 | autoimmune hemolytic anemia C0002878 | hemolytic anemia C0001418 | adenocarcinoma C0001403 | primary adrenocortical insufficiency |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:38) C0020542 | pulmonary hypertension | 13 C0020538 | hypertension | 12 C0024115 | lung disease | 8 C0206062 | interstitial lung disease | 8 C0036421 | systemic sclerosis | 7 C0034069 | pulmonary fibrosis | 6 C1619734 | pulmonary arterial hypertension | 5 C0206138 | crest syndrome | 4 C0034735 | raynaud's phenomenon | 4 C0030193 | pain | 3 C0022116 | ischemia | 3 C0410000 | overlap syndrome | 2 C0748159 | pulmonary involvement | 2 C0006663 | calcinosis | 2 C0240035 | interstitial fibrosis | 2 C0018799 | heart disease | 2 C0037274 | skin disease | 2 C0024138 | discoid lupus erythematosus | 2 C0008312 | primary biliary cirrhosis | 1 C0549493 | alveolitis | 1 C0006142 | breast cancer | 1 C0085278 | antiphospholipid syndrome | 1 C0014858 | esophageal dysmotility | 1 C0006444 | bursitis | 1 C0039103 | synovitis | 1 C0013404 | dyspnea | 1 C0027121 | myositis | 1 C0034069 | lung fibrosis | 1 C0032320 | pneumoperitoneum | 1 C0014852 | esophageal disease | 1 C0022658 | kidney disease | 1 C0032227 | pleural effusions | 1 C0155765 | microangiopathy | 1 C0031039 | pericardial effusion | 1 C0009450 | infection | 1 C0023223 | leg ulcers | 1 C0035078 | renal failure | 1 C0006664 | calcinosis cutis | 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:0) | |
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| (Waiting for update.) | |
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:27) | ||||
|---|---|---|---|---|
| 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:0008872 | Feeding difficulties in infancy | MP:0011075 | abnormal macrophage activation involved in immune response | anomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response |
| HP:0000160 | Narrow mouth | MP:0000452 | abnormal mouth morphology | any structural anomaly of the oral cavity |
| HP:0006824 | Cranial nerve paralysis | MP:0006303 | abnormal retinal nerve fiber layer morphology | any structural anomaly of the layer of the retina formed by expansion of the fibers of the optic nerve |
| HP:0002092 | Pulmonary hypertension | MP:0005258 | ocular hypertension | abnormal elevation of the intraocular pressure |
| HP:0001639 | Hypertrophic cardiomyopathy | MP:0005330 | cardiomyopathy | diseases of the heart (myocardium); may result from many causes |
| HP:0001000 | Abnormality of skin pigmentation | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0000958 | Dry 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:0002575 | Tracheoesophageal fistula | MP:0003321 | tracheoesophageal fistula | an abnormal passage is present between the esophagus and the trachea; may be acquired or congenital, and is often associated with esophageal atresia |
| HP:0002239 | Gastrointestinal hemorrhage | MP:0012305 | umbilical cord hemorrhage | bleeding into or from the umbilical cord |
| HP:0100526 | Neoplasm of the lung | 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:0001053 | Hypopigmented skin patches | MP:0004947 | skin inflammation | local accumulation of fluid, plasma proteins, and leukocytes in the skin |
| HP:0100679 | Lack of skin elasticity | MP:0010919 | increased number of pulmonary neuroendocrine bodies | greater number of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the air |
| HP:0000010 | Recurrent urinary tract infections | MP:0014044 | absent cardiac outflow tract | absence of or complete failure to form the common arterial trunk that normally forms the aorta and pulmonary artery and the ventricular outflow regions |
| HP:0002017 | Nausea and vomiting | MP:0010426 | abnormal heart and great artery attachment | any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta |
| HP:0001635 | Congestive heart failure | MP:0011925 | abnormal heart echocardiography feature | any anomaly in echocardiographic representation of systolic and diastolic function, ventricular compliance, valvular function, or interventricular septum features |
| HP:0002793 | Abnormal pattern of respiration | MP:0010954 | abnormal cellular respiration | anomaly in the enzymatic release of energy from organic compounds (especially carbohydrates and fats) which either requires oxygen (aerobic respiration) or does not (anaerobic respiration) |
| HP:0000225 | Gingival bleeding | MP:0005606 | increased bleeding time | greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function |
| HP:0003202 | Skeletal muscle atrophy | MP:0014068 | abnormal muscle glycogen level | the normal concentration of a readily converted carbohydrate reserve in muscle tissue |
| HP:0004378 | Abnormality of the anus | MP:0004499 | increased incidence of tumors by chemical induction | higher than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens |
| HP:0000083 | Renal insufficiency | MP:0003335 | exocrine pancreatic insufficiency | inadequate synthesis and/or secretion of digestive enzymes by the exocrine portion of the pancreas, usually due to loss of acinar tissue from idiopathic atrophy or acute or chronic inflammation, causing maldigestion and malabsorption of nutrients |
| HP:0002091 | Restrictive lung disease | MP:0008714 | increased lung carcinoma incidence | greater than the expected number of a malignant neoplasm of the ling, arising from epithelial cells, usually glandular or squamous, occurring in a specific population in a given time period |
| HP:0002206 | Pulmonary fibrosis | MP:0009419 | skeletal muscle fibrosis | formation of fibrous tissue within skeletal muscle as a result of repair or a reactive process |
| HP:0000762 | Decreased nerve conduction velocity | MP:0008814 | decreased nerve conduction velocity | decrease in the rate at which an electrical impulse travels through a nerve |
| 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:0001824 | Weight loss | MP:0005114 | premature hair loss | release of fur at an earlier than expected time |
Mapped by homologous gene(Total Items:70) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002577 | Abnormality of the stomach | MP:0011708 | decreased fibroblast cell migration | reduced frequency of or less rapid fibroblast cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium |
| HP:0002754 | Osteomyelitis | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0012735 | Cough | 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:0100579 | Mucosal telangiectasiae | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0011675 | Arrhythmia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000112 | Nephropathy | 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:0001250 | Seizures | 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:0001369 | Arthritis | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0009830 | Peripheral neuropathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000708 | Behavioral abnormality | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002206 | Pulmonary fibrosis | MP:0014233 | bile duct epithelium hyperplasia | |
| HP:0002113 | Pulmonary infiltrates | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| 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:0001482 | Subcutaneous nodule | MP:0013542 | abnormal submandibular gland branching morphogenesis | |
| HP:0004326 | Cachexia | 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:0001072 | Thickened skin | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0003202 | Skeletal muscle atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002024 | Malabsorption | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0100679 | Lack of skin elasticity | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002092 | Pulmonary hypertension | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002797 | Osteolysis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002960 | Autoimmunity | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001701 | Pericarditis | MP:0011405 | tubulointerstitial nephritis | diffuse or local inflammation and edema of the interstitial tissue of the kidney, including the renal tubules; usually secondary to drug sensitization, systemic infection, graft rejection, or autoimmune disease |
| HP:0001000 | Abnormality of skin pigmentation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100526 | Neoplasm of the lung | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0004378 | Abnormality of the anus | MP:0012431 | increased lymphoma incidence | greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period |
| HP:0002239 | Gastrointestinal hemorrhage | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0000934 | Chondrocalcinosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001373 | Joint dislocation | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000790 | Hematuria | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0100614 | Myositis | MP:0011635 | abnormal mitochondrial crista morphology | Any of the inward folds of the mitochondrial inner membrane; crista number, extent, and shape differ in mitochondria from different tissues and organisms; crista appear to be devices for increasing the surface area of the mitochondrial inner membrane, whe |
| HP:0001824 | Weight loss | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001053 | Hypopigmented skin patches | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0002829 | Arthralgia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000160 | Narrow mouth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002793 | Abnormal pattern of respiration | MP:0013572 | abnormal parathyroid gland chief cell morphology | any structural anomaly of an epithelial cell that are collectively arranged in wide, irregular interconnecting columns in the parathyroid gland, that is responsible for the synthesis and secretion of parathyroid hormone (PTH) |
| HP:0000083 | Renal insufficiency | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001697 | Abnormality of the pericardium | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001025 | Urticaria | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0200042 | Skin ulcer | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000962 | Hyperkeratosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008872 | Feeding difficulties in infancy | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0001063 | Acrocyanosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003326 | Myalgia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002020 | Gastroesophageal reflux | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0002575 | Tracheoesophageal fistula | 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:0002607 | Bowel incontinence | MP:0013438 | dysmyelination | reduced amount of myelin present in the form of a myelin sheath surrounding an axon due to defects in the synthesis and formation of myelin |
| HP:0000230 | Gingivitis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001394 | Cirrhosis | MP:0020134 | abnormal gallbladder size | an anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile |
| HP:0200034 | Papule | MP:0013745 | abnormal eyelid margin morphology | any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium |
| HP:0001635 | Congestive heart failure | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001658 | Myocardial infarction | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100261 | Abnormal tendon morphology | MP:0012080 | chylous ascites | the extravasation of milky triglyceride-rich chyle into the peritoneal cavity; often a secondary symptom of neoplasms |
| HP:0002354 | Memory impairment | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0100749 | Chest pain | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000762 | Decreased nerve conduction velocity | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000958 | Dry skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000010 | Recurrent urinary tract infections | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0100825 | Cheilitis | 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:0000225 | Gingival bleeding | MP:0020186 | altered susceptibility to bacterial infection | a change in the likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria |
| 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:0100758 | Gangrene | MP:0011517 | hyperoxaluria | abnormally high levels of oxalic acid or oxalates in the urine; many metal ions form insoluble precipitates with oxalate, a prominent example being calcium oxalate, the primary constituent of the most common kind of kidney stones |
| HP:0000217 | Xerostomia | 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:0002091 | Restrictive lung disease | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0006824 | Cranial nerve paralysis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 475 |
|---|---|
| Disease | scleroderma |
| Case | (Waiting for update.) |