eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| dermatomyositis | ||||
| Disease ID | 282 |
|---|---|
| Disease | dermatomyositis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:153) C2700478 | meningioma C2697424 | gastric cancer C2697391 | rheumatoid arthritis C2364133 | infection C2242539 | subcutaneous infection C1963274 | vasculitis C1963235 | sick sinus syndrome C1963220 | pulmonary hypertension C1963198 | pancreatitis C1963164 | lymphopenia C1963154 | renal failure C1963079 | restrictive cardiomyopathy C1962966 | retinopathy C1961102 | acute lymphoblastic leukemia C1959600 | endomyocardial fibrosis C1956346 | coronary artery disease C1704251 | lymphoma of the breast C1696156 | pharyngeal necrosis C1402315 | vascular lesions C1377913 | pleural mesothelioma C1333789 | squamous cell carcinoma of the stomach C1322286 | thymic carcinoma C1302772 | cutaneous lymphoma C1290344 | nonspecific interstitial pneumonia C1279945 | acute interstitial pneumonia C1262241 | gastric melanoma C1253937 | pericardial effusion C1145670 | respiratory failure C1140680 | ovarian cancer C1112565 | pneumatosis intestinalis C1096584 | chlamydia pneumoniae infection C1090821 | sepsis C1027109 | scleroderma C0947912 | myasthenia C0919642 | ureteral necrosis C0878544 | myocardiopathies C0751378 | neurologic signs C0748355 | acute respiratory distress C0748214 | epidermoid carcinoma of the pyriform sinus C0748159 | pulmonary involvement C0744422 | diffuse proliferative glomerulonephritis C0741949 | cardiovascular pathology C0740577 | acute abdominal pain C0699791 | gastric carcinoma C0678222 | breast carcinoma C0600139 | carcinoma of the prostate C0547058 | pseudopolyposis C0522224 | palsy C0520473 | organic psychosis C0473120 | abdominal hematoma C0410000 | overlap syndrome C0406650 | linear iga bullous dermatosis C0334663 | true histiocytic lymphoma C0334419 | malignant pheochromocytoma C0311343 | membranous conjunctivitis C0278584 | metastatic carcinoma of the cervix C0272126 | evans' syndrome C0267373 | intestinal haemorrhage C0267356 | duodenal perforation C0267063 | cricopharyngeal achalasia C0263627 | calcinosis universalis C0263367 | koebner phenomenon C0262988 | cutaneous vasculitis C0262941 | myofasciitis C0242770 | bronchiolitis obliterans organizing pneumonia C0242584 | autoimmune thrombocytopenia C0240035 | interstitial pulmonary fibrosis C0239946 | liver fibrosis C0238301 | nasopharyngeal carcinoma C0238301 | nasopharyngeal cancer C0238265 | marchiafava-bignami disease C0238115 | spontaneous rupture of esophagus C0221011 | malignant atrophic papulosis C0206698 | cholangiocarcinoma C0206695 | neuroendocrine carcinoma C0206178 | cytomegalovirus retinitis C0206178 | cmv retinitis C0206062 | interstitial lung disease C0206061 | interstitial pneumonitis C0206061 | interstitial pneumonia C0162855 | mucinosis C0162839 | porokeratosis C0155765 | microangiopathy C0155320 | cortical blindness C0153619 | ureteral cancer C0151436 | cutaneous leukocytoclastic vasculitis C0149871 | deep venous thrombosis C0085652 | pyoderma gangrenosum C0079772 | t-cell lymphoma C0079772 | t cell lymphoma C0079731 | b-cell lymphoma C0042769 | virus infection C0041834 | erythema C0041296 | tuberculosis C0040188 | tic disorders C0040034 | thrombocytopenia C0039103 | synovitis C0037285 | skin manifestations C0037285 | skin manifestation C0037284 | skin lesions C0037284 | skin lesion C0037274 | skin disease C0036262 | scabies C0036220 | kaposi's sarcoma C0035333 | retinitis C0034069 | pulmonary fibrosis C0034067 | emphysema C0033860 | psoriasis C0033771 | prurigo C0032266 | pneumatosis cystoides intestinalis C0030805 | bullous pemphigoid C0030781 | peliosis hepatis C0030436 | parakeratosis C0030326 | panniculitis C0029166 | oral manifestations C0029132 | optic neuropathy C0029089 | ophthalmoplegia C0027947 | neutropenia C0027051 | myocardial infarction C0026848 | myopathy C0026764 | multiple myeloma C0025517 | metabolism disorders C0024305 | non-hodgkin's lymphoma C0024299 | lymphoma C0024291 | hemophagocytic syndrome C0024291 | haemophagocytic syndrome C0023524 | progressive multifocal leukoencephalopathy C0022660 | acute renal failure C0021845 | intestinal perforation C0020758 | ichthyosis C0018799 | heart disease C0018799 | diseases of the heart C0017665 | membranous nephropathy C0017658 | glomerulonephritis C0015970 | fever of unknown origin C0015645 | fasciitis C0015230 | skin rash C0015230 | skin eruption C0015230 | rashes C0015230 | rash C0011168 | dysphagia C0009782 | connective tissue disease C0007286 | carpal tunnel syndrome C0007138 | transitional cell carcinoma C0006664 | calcinosis cutis C0006663 | calcinosis C0005742 | blepharochalasis C0003864 | arthritides C0002991 | dermatofibromas C0002880 | autoimmune haemolytic anaemia C0002726 | amyloidosis C0001815 | idiopathic myelofibrosis C0000889 | acanthosis nigricans |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:33) C0206062 | interstitial lung disease | 28 C0206061 | interstitial pneumonia | 14 C0006663 | calcinosis | 8 C0003873 | rheumatoid arthritis | 5 C0009450 | infection | 5 C0042384 | vasculitis | 4 C0410000 | overlap syndrome | 4 C0238301 | nasopharyngeal carcinoma | 4 C0030326 | panniculitis | 3 C1279945 | acute interstitial pneumonia | 2 C0006664 | calcinosis cutis | 2 C0011644 | scleroderma | 2 C0015230 | rash | 2 C0744422 | diffuse proliferative glomerulonephritis | 1 C0034069 | pulmonary fibrosis | 1 C0206698 | cholangiocarcinoma | 1 C0040034 | thrombocytopenia | 1 C1140680 | ovarian cancer | 1 C0153392 | nasopharyngeal cancer | 1 C0015230 | skin rash | 1 C0037284 | skin lesion | 1 C0263627 | calcinosis universalis | 1 C0155765 | microangiopathy | 1 C0011168 | dysphagia | 1 C0041834 | erythema | 1 C0017658 | glomerulonephritis | 1 C0035309 | retinopathy | 1 C0009782 | connective tissue disease | 1 C0024299 | lymphoma | 1 C0042769 | virus infection | 1 C0947912 | myasthenia | 1 C0037285 | skin manifestations | 1 C0024623 | gastric cancer | 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:12) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs10069690 | 26320593 | 7015 | TERT | umls:C0011633 | BeFree | Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-matched healthy controls (n =968) were genotyped for the CCL21 region SNPs (rs951005 and rs2492358), ERBB3 (rs2292239 and rs11171739), and TERT (rs2853676 and rs10069690), by using the Sequenom MassArray system. | 0.000271442 | 2015 | TERT | 5 | 1279675 | C | T |
| rs10069690 | 26320593 | 6366 | CCL21 | umls:C0011633 | BeFree | Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-matched healthy controls (n =968) were genotyped for the CCL21 region SNPs (rs951005 and rs2492358), ERBB3 (rs2292239 and rs11171739), and TERT (rs2853676 and rs10069690), by using the Sequenom MassArray system. | 0.002995792 | 2015 | TERT | 5 | 1279675 | C | T |
| rs11171739 | 26320593 | 7015 | TERT | umls:C0011633 | BeFree | Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-matched healthy controls (n =968) were genotyped for the CCL21 region SNPs (rs951005 and rs2492358), ERBB3 (rs2292239 and rs11171739), and TERT (rs2853676 and rs10069690), by using the Sequenom MassArray system. | 0.000271442 | 2015 | NA | 12 | 56076841 | C | T |
| rs11171739 | 26320593 | 6366 | CCL21 | umls:C0011633 | BeFree | Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-matched healthy controls (n =968) were genotyped for the CCL21 region SNPs (rs951005 and rs2492358), ERBB3 (rs2292239 and rs11171739), and TERT (rs2853676 and rs10069690), by using the Sequenom MassArray system. | 0.002995792 | 2015 | NA | 12 | 56076841 | C | T |
| rs2292239 | 26320593 | 7015 | TERT | umls:C0011633 | BeFree | Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-matched healthy controls (n =968) were genotyped for the CCL21 region SNPs (rs951005 and rs2492358), ERBB3 (rs2292239 and rs11171739), and TERT (rs2853676 and rs10069690), by using the Sequenom MassArray system. | 0.000271442 | 2015 | ERBB3 | 12 | 56088396 | T | G |
| rs2292239 | 26320593 | 6366 | CCL21 | umls:C0011633 | BeFree | Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-matched healthy controls (n =968) were genotyped for the CCL21 region SNPs (rs951005 and rs2492358), ERBB3 (rs2292239 and rs11171739), and TERT (rs2853676 and rs10069690), by using the Sequenom MassArray system. | 0.002995792 | 2015 | ERBB3 | 12 | 56088396 | T | G |
| rs2492358 | 26320593 | 7015 | TERT | umls:C0011633 | BeFree | Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-matched healthy controls (n =968) were genotyped for the CCL21 region SNPs (rs951005 and rs2492358), ERBB3 (rs2292239 and rs11171739), and TERT (rs2853676 and rs10069690), by using the Sequenom MassArray system. | 0.000271442 | 2015 | NA | 9 | 34737831 | C | T |
| rs2492358 | 26320593 | 6366 | CCL21 | umls:C0011633 | BeFree | Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-matched healthy controls (n =968) were genotyped for the CCL21 region SNPs (rs951005 and rs2492358), ERBB3 (rs2292239 and rs11171739), and TERT (rs2853676 and rs10069690), by using the Sequenom MassArray system. | 0.002995792 | 2015 | NA | 9 | 34737831 | C | T |
| rs2853676 | 26320593 | 6366 | CCL21 | umls:C0011633 | BeFree | Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-matched healthy controls (n =968) were genotyped for the CCL21 region SNPs (rs951005 and rs2492358), ERBB3 (rs2292239 and rs11171739), and TERT (rs2853676 and rs10069690), by using the Sequenom MassArray system. | 0.002995792 | 2015 | TERT | 5 | 1288432 | T | C |
| rs2853676 | 26320593 | 7015 | TERT | umls:C0011633 | BeFree | Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-matched healthy controls (n =968) were genotyped for the CCL21 region SNPs (rs951005 and rs2492358), ERBB3 (rs2292239 and rs11171739), and TERT (rs2853676 and rs10069690), by using the Sequenom MassArray system. | 0.000271442 | 2015 | TERT | 5 | 1288432 | T | C |
| rs951005 | 26320593 | 6366 | CCL21 | umls:C0011633 | BeFree | Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-matched healthy controls (n =968) were genotyped for the CCL21 region SNPs (rs951005 and rs2492358), ERBB3 (rs2292239 and rs11171739), and TERT (rs2853676 and rs10069690), by using the Sequenom MassArray system. | 0.002995792 | 2015 | NA | 9 | 34743684 | G | A |
| rs951005 | 26320593 | 7015 | TERT | umls:C0011633 | BeFree | Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-matched healthy controls (n =968) were genotyped for the CCL21 region SNPs (rs951005 and rs2492358), ERBB3 (rs2292239 and rs11171739), and TERT (rs2853676 and rs10069690), by using the Sequenom MassArray system. | 0.000271442 | 2015 | NA | 9 | 34743684 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:6) | |||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CHR | POS | SNPID | REF | ALT | ORI_SNPID | PMID | P_VALUE | P_VALUE_TEXT | OR/BETA | CI95_TEXT | GWAS_INITIAL_SAMPLE_SIZE | SUB_POPULATION | SUPER_POPULATION | GWAS_TRAIT | HPO_ID | HPO_TERM | DO_ID | DO_TERM | MESH_ID | MESH_TERM | EFO_ID | EFO_TERM | DOLITE_TERM | RISK_ALLELE | PUBLICATION_TYPE | AA | GENE_SYMBOL | TYPE | REFGENE |
| 2 | 198780860 | rs938929 | A | G | rs938929 | 23983088 | 8.32E-05 | NA | 1.22 | [1.10-1.34] | 1,178 European ancestry cases; 4,724 European ancestry controls | European(5902) | ALL(5902) | EUR(5902) | ALL(5902) | Dermatomyositis | HPOID:0100614 | HPOID:0010978 | Myositis | Abnormality of immune system physiology | DOID:10223 | dermatomyositis | NA | NA | NA | NA | Polymyositis | NA | Research Support, Non-U.S. Gov't |
| 2 | 198809975 | rs1518364 | G | A | rs1518364 | 23983088 | 5.11E-05 | NA | 1.22 | [1.11-1.35] | 1,178 European ancestry cases; 4,724 European ancestry controls | European(5902) | ALL(5902) | EUR(5902) | ALL(5902) | Dermatomyositis | HPOID:0100614 | HPOID:0010978 | Myositis | Abnormality of immune system physiology | DOID:10223 | dermatomyositis | NA | NA | NA | NA | Polymyositis | NA | Research Support, Non-U.S. Gov't |
| 2 | 198929806 | rs7572733 | C | T | rs7572733 | 23983088 | 6.00E-06 | NA | 1.25 | [1.14-1.39] | 1,178 European ancestry cases; 4,724 European ancestry controls | European(5902) | ALL(5902) | EUR(5902) | ALL(5902) | Dermatomyositis | HPOID:0100614 | HPOID:0010978 | Myositis | Abnormality of immune system physiology | DOID:10223 | dermatomyositis | NA | NA | NA | NA | Polymyositis | NA | Research Support, Non-U.S. Gov't |
| 8 | 11343973 | rs2736340 | C | T | rs2736340 | 23983088 | 6.53E-05 | NA | 1.25 | [1.12-1.40] | 1,178 European ancestry cases; 4,724 European ancestry controls | European(5902) | ALL(5902) | EUR(5902) | ALL(5902) | Dermatomyositis | HPOID:0100614 | HPOID:0010978 | Myositis | Abnormality of immune system physiology | DOID:10223 | dermatomyositis | NA | NA | NA | NA | Polymyositis | NA | Research Support, Non-U.S. Gov't |
| 9 | 34737828 | rs2492358 | C | T | rs2492358 | 23983088 | 2.09E-04 | NA | 1.3 | [1.14-1.49] | 1,178 European ancestry cases; 4,724 European ancestry controls | European(5902) | ALL(5902) | EUR(5902) | ALL(5902) | Dermatomyositis | HPOID:0100614 | HPOID:0010978 | Myositis | Abnormality of immune system physiology | DOID:10223 | dermatomyositis | NA | NA | NA | NA | Polymyositis | NA | Research Support, Non-U.S. Gov't |
| 9 | 34743681 | rs951005 | G | A | rs951005 | 23983088 | 3.17E-04 | NA | 1.3 | [1.12-1.49] | 1,178 European ancestry cases; 4,724 European ancestry controls | European(5902) | ALL(5902) | EUR(5902) | ALL(5902) | Dermatomyositis | HPOID:0100614 | HPOID:0010978 | Myositis | Abnormality of immune system physiology | DOID:10223 | dermatomyositis | NA | NA | NA | NA | Polymyositis | NA | Research Support, Non-U.S. Gov't |
Mapped by lexical matching(Total Items:21) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0011362 | Abnormal hair quantity | MP:0008861 | abnormal hair shedding | anomaly in the hair cycle changes the timing of the hair loss that normally follows the anagen phase |
| 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:0100539 | Periorbital edema | MP:0001785 | edema | an accumulation of an excessive amount of watery fluid in cells or intercellular tissues |
| HP:0000492 | Abnormality of the eyelid | MP:0010178 | increased number of Howell-Jolly bodies | abnormal presence of basophilic nuclear remnants of condensed DNA (1 to 2 um in diameter) in circulating erythrocytes, typically seen in severe hemolytic anemias or after splenectomy; these inclusions are normally removed by the spleen but will persist in |
| HP:0003701 | Proximal muscle weakness | MP:0000748 | progressive muscle weakness | increasing loss of muscle strength over time |
| HP:0001608 | Abnormality of the voice | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0000992 | Cutaneous photosensitivity | MP:0001202 | skin photosensitivity | abnormally heightened reactivity of the skin to sunlight |
| HP:0030078 | Lung adenocarcinoma | MP:0009308 | increased adenocarcinoma incidence | higher than normal incidence of a malignant neoplasm of epithelial cells in a glandular or glandular-like pattern |
| HP:0100723 | Gastrointestinal stroma tumor | MP:0010279 | increased gastrointestinal tumor incidence | greater than the expected number of tumors originating in the gastrointestinal system in a given population in a given time period |
| HP:0008065 | Aplasia/Hypoplasia of the skin | 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:0003002 | Breast carcinoma | MP:0010367 | increased spindle cell carcinoma incidence | greater than the expected number of a highly malignant variant of squamous cell carcinoma, occurring in a specific population in a given time period; spindle cell carcinoma shows biphasic proliferation of conventional SCC component and malignant spindle s |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0006530 | Interstitial pulmonary disease | MP:0002295 | abnormal pulmonary circulation | any anomaly in the circulation of blood through the lungs |
| HP:0002092 | Pulmonary hypertension | MP:0005258 | ocular hypertension | abnormal elevation of the intraocular pressure |
| 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: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:0001597 | Abnormality of the nail | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| 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:0002205 | Recurrent respiratory infections | MP:0014182 | decreased respiratory epithelial sodium ion transmembrane transport | decrease in the directed movement of sodium ions from one side of the respiratory epithelial cell membrane to the other |
| HP:0001879 | Abnormality of eosinophils | MP:0012167 | abnormal epigenetic regulation of gene expression | any anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA |
| HP:0001824 | Weight loss | MP:0005114 | premature hair loss | release of fur at an earlier than expected time |
Mapped by homologous gene(Total Items:46) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | 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:0001945 | Fever | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002664 | Neoplasm | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0011675 | Arrhythmia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0010783 | Erythema | MP:0013781 | abnormal mammary gland luminal epithelium morphology | any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti |
| 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:0002205 | Recurrent respiratory infections | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002206 | Pulmonary fibrosis | MP:0014233 | bile duct epithelium hyperplasia | |
| HP:0002633 | Vasculitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002092 | Pulmonary hypertension | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100723 | Gastrointestinal stroma tumor | MP:0014166 | ectopic cranial bone | the appearance of an extra bone structure at an atypical location in or near the cranium |
| HP:0002093 | Respiratory insufficiency | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000992 | Cutaneous photosensitivity | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002960 | Autoimmunity | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0011362 | Abnormal hair quantity | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0001879 | Abnormality of eosinophils | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001618 | Dysphonia | 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:0000934 | Chondrocalcinosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0003701 | Proximal muscle weakness | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001824 | Weight loss | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001597 | Abnormality of the nail | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002829 | Arthralgia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000969 | Edema | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001608 | Abnormality of the voice | 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:0006530 | Interstitial pulmonary disease | MP:0011846 | decreased kidney collecting duct number | smaller than expected number of the kidney ducts that collect urine from the distal convoluted tubules, merge and become larger as they descend from the renal cortex into the medulla, and respond to vasopressin and aldosterone to regulate water, electroly |
| 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:0002665 | Lymphoma | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| 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:0030078 | Lung adenocarcinoma | MP:0013886 | increased CD4-negative, CD25-positive NK T cell number | increase in the number of CD4-negative NK T cells expressing the activation marker CD25 |
| HP:0100658 | Cellulitis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003326 | Myalgia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001063 | Acrocyanosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000492 | Abnormality of the eyelid | 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: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:0003457 | EMG abnormality | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001658 | Myocardial infarction | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000958 | Dry skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000989 | Pruritus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0008065 | Aplasia/Hypoplasia of the skin | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0003002 | Breast carcinoma | 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: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:0100539 | Periorbital edema | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002207 | Diffuse reticular or finely nodular infiltrations | 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 |
| Disease ID | 282 |
|---|---|
| Disease | dermatomyositis |
| Case | (Waiting for update.) |