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encyclopedia of Rare Disease Annotation for Precision Medicine



   polymyositis
  

Disease ID 322
Disease polymyositis
Definition
Diseases characterized by inflammation involving multiple muscles. This may occur as an acute or chronic condition associated with medication toxicity (DRUG TOXICITY); CONNECTIVE TISSUE DISEASES; infections; malignant NEOPLASMS; and other disorders. The term polymyositis is frequently used to refer to a specific clinical entity characterized by subacute or slowly progressing symmetrical weakness primarily affecting the proximal limb and trunk muscles. The illness may occur at any age, but is most frequent in the fourth to sixth decade of life. Weakness of pharyngeal and laryngeal muscles, interstitial lung disease, and inflammation of the myocardium may also occur. Muscle biopsy reveals widespread destruction of segments of muscle fibers and an inflammatory cellular response. (Adams et al., Principles of Neurology, 6th ed, pp1404-9)
Synonym
multiple myositis
myositides, multiple
myositis, multiple
neuromyositis
neuromyositis-retired
neuromyositis-retired (disorder)
pm - polymyositis
polymyositides
polymyositis (disorder)
polymyositis [disease/finding]
Orphanet
DOID
UMLS
C0085655
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:57)
C0024115  |  lung disease  |  12
C0206062  |  interstitial lung disease  |  12
C0019158  |  hepatitis  |  4
C0026848  |  myopathy  |  3
C0003873  |  rheumatoid arthritis  |  3
C0009782  |  connective tissue disorder  |  3
C0007102  |  colon cancer  |  2
C0011633  |  dermatomyositis  |  2
C0020538  |  hypertension  |  2
C0019163  |  hepatitis b  |  2
C0027121  |  myositis  |  2
C0241910  |  autoimmune hepatitis  |  2
C0009782  |  connective tissue disorders  |  2
C0027059  |  myocarditis  |  2
C0032285  |  pneumonia  |  2
C0003864  |  arthritis  |  2
C0026896  |  myasthenia gravis  |  2
C0010346  |  crohn's disease  |  1
C0242379  |  lung cancer  |  1
C0027726  |  nephrotic syndrome  |  1
C0334254  |  lymphoepithelioma  |  1
C0020676  |  hypothyroidism  |  1
C0034065  |  pulmonary embolism  |  1
C0206062  |  interstitial lung diseases  |  1
C0008312  |  primary biliary cirrhosis  |  1
C0026850  |  muscular dystrophies  |  1
C0020626  |  hypoparathyroidism  |  1
C0024115  |  lung diseases  |  1
C0009782  |  connective tissue diseases  |  1
C0235974  |  pancreatic cancer  |  1
C0011570  |  depression  |  1
C0026846  |  muscle atrophy  |  1
C0020550  |  hyperthyroidism  |  1
C1527336  |  sjogren's syndrome  |  1
C0018213  |  graves' disease  |  1
C0026764  |  myeloma  |  1
C0376545  |  hematological malignancy  |  1
C0677607  |  hashimoto's thyroiditis  |  1
C0456845  |  non-secretory myeloma  |  1
C0021053  |  immune disease  |  1
C0006142  |  breast cancer  |  1
C0024299  |  lymphoma  |  1
C0027121  |  muscle inflammation  |  1
C1145670  |  respiratory failure  |  1
C0032461  |  polycythaemia  |  1
C0019204  |  hepatocellular carcinoma  |  1
C0032463  |  polycythaemia vera  |  1
C0020542  |  pulmonary hypertension  |  1
C0042769  |  virus infection  |  1
C0009782  |  connective tissue disease  |  1
C0085278  |  antiphospholipid antibody syndrome  |  1
C0026850  |  muscular dystrophy  |  1
C0026848  |  myopathies  |  1
C0752166  |  bardet-biedl syndrome  |  1
C0027121  |  inflammatory myopathies  |  1
C0039590  |  testicular cancer  |  1
C0027121  |  inflammatory myopathy  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:5)
7124  |  TNF  |  CTD_human
3553  |  IL1B  |  CTD_human
3552  |  IL1A  |  CTD_human
3569  |  IL6  |  CTD_human
1594  |  CYP27B1  |  CTD_human
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 322
Disease polymyositis
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:41)
HP:0002239  |  Gastrointestinal hemorrhage
HP:0004303  |  Abnormality of muscle fibers
HP:0001633  |  Abnormality of the mitral valve
HP:0012378  |  Fatigue
HP:0002019  |  Constipation
HP:0002027  |  Abdominal pain
HP:0001824  |  Weight loss
HP:0001644  |  Dilated cardiomyopathy
HP:0002960  |  Autoimmunity
HP:0001635  |  Congestive heart failure
HP:0002829  |  Arthralgia
HP:0005150  |  Abnormal atrioventricular conduction
HP:0003326  |  Myalgia
HP:0003236  |  Elevated serum creatine phosphokinase
HP:0002206  |  Pulmonary fibrosis
HP:0000934  |  Chondrocalcinosis
HP:0001639  |  Hypertrophic cardiomyopathy
HP:0001315  |  Reduced tendon reflexes
HP:0002020  |  Gastroesophageal reflux
HP:0001618  |  Dysphonia
HP:0003701  |  Proximal muscle weakness
HP:0002633  |  Vasculitis
HP:0001288  |  Gait disturbance
HP:0001658  |  Myocardial infarction
HP:0002093  |  Respiratory insufficiency
HP:0002875  |  Exertional dyspnea
HP:0004936  |  Venous thrombosis
HP:0001608  |  Abnormality of the voice
HP:0003457  |  EMG abnormality
HP:0011675  |  Arrhythmia
HP:0001945  |  Fever
HP:0002240  |  Hepatomegaly
HP:0012735  |  Cough
HP:0001701  |  Pericarditis
HP:0001369  |  Arthritis
HP:0006530  |  Interstitial pulmonary disease
HP:0001252  |  Muscular hypotonia
HP:0012544  |  Elevated aldolase level
HP:0002039  |  Anorexia
HP:0000091  |  Abnormality of the renal tubule
HP:0003002  |  Breast carcinoma
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:47)
HP:0006530  |  Interstitial lung disease  |  11
HP:0003198  |  Myopathic changes  |  5
HP:0001324  |  Muscular weakness  |  5
HP:0012115  |  Liver inflammation  |  4
HP:0003201  |  Rhabdomyolysis  |  3
HP:0100614  |  Muscle inflammation  |  3
HP:0001370  |  Rheumatoid arthritis  |  3
HP:0001369  |  Arthritis  |  2
HP:0003701  |  Proximal limb muscle weakness  |  2
HP:0001297  |  Cerebral vascular events  |  2
HP:0012819  |  Myocarditis  |  2
HP:0003003  |  Colon cancer  |  2
HP:0003473  |  Fatigable weakness  |  2
HP:0002090  |  Pneumonia  |  2
HP:0002894  |  Neoplasia of the pancreas  |  1
HP:0001402  |  Hepatocellular carcinoma  |  1
HP:0012089  |  Arteritis  |  1
HP:0000836  |  Overactive thyroid  |  1
HP:0000100  |  Nephrosis  |  1
HP:0012378  |  Fatigue  |  1
HP:0002486  |  Myotonia  |  1
HP:0003002  |  Breast carcinoma  |  1
HP:0002878  |  Respiratory failure  |  1
HP:0004756  |  Ventricular tachycardia  |  1
HP:0000716  |  Depression  |  1
HP:0002960  |  Autoimmune condition  |  1
HP:0003202  |  Neurogenic muscle atrophy, especially in the lower limbs  |  1
HP:0000821  |  Underactive thyroid  |  1
HP:0000829  |  Hypoparathyroidism  |  1
HP:0000822  |  Hypertension  |  1
HP:0002092  |  Pulmonary artery hypertension  |  1
HP:0001649  |  Tachycardia  |  1
HP:0009071  |  Inflammatory myopathy  |  1
HP:0003560  |  Muscular dystrophy  |  1
HP:0002664  |  Neoplasia  |  1
HP:0100280  |  Morbus Crohn  |  1
HP:0011096  |  Demyelination  |  1
HP:0002140  |  Ischemic stroke  |  1
HP:0003613  |  Antiphospholipid antibodies  |  1
HP:0000969  |  Dropsy  |  1
HP:0002204  |  Pulmonary embolism  |  1
HP:0001717  |  Coronary artery calcification  |  1
HP:0001288  |  Gait disturbance  |  1
HP:0030731  |  Carcinoma  |  1
HP:0012531  |  Pain  |  1
HP:0002665  |  Lymphoma  |  1
HP:0000872  |  Hashimoto's thyroiditis  |  1
Disease ID 322
Disease polymyositis
Manually Symptom
UMLS  | Name(Total Manually Symptoms:90)
C2697391  |  rheumatoid arthritis
C2609059  |  antisynthetase syndrome
C2364133  |  infection
C2364118  |  weakness
C1963229  |  retinal detachment
C1963220  |  pulmonary hypertension
C1962972  |  proteinuria
C1962971  |  myocarditis
C1962966  |  retinopathy
C1512411  |  hepatocellular carcinoma
C1420725  |  thymoma
C1384514  |  primary aldosteronism
C1290344  |  nonspecific interstitial pneumonia
C1145670  |  respiratory failure
C1112565  |  pneumatosis intestinalis
C0878544  |  myocardial disease
C0865681  |  chronic myocarditis
C0852949  |  arteriopathy
C0748159  |  pulmonary involvement
C0549225  |  myasthenic syndrome
C0520463  |  chronic active hepatitis
C0520459  |  necrotizing enterocolitis
C0442874  |  neuropathy
C0432474  |  klinefelter's syndrome
C0403457  |  myoglobinuric acute renal failure
C0403416  |  crescentic glomerulonephritis
C0398367  |  kikuchi-fujimoto disease
C0268123  |  myoadenylate deaminase deficiency
C0264886  |  conduction disorders
C0264886  |  conduction defects
C0264886  |  cardiac conduction defects
C0264490  |  acute respiratory failure
C0242770  |  bronchiolitis obliterans organizing pneumonia
C0238183  |  atrophic thyroiditis
C0235896  |  pulmonary infiltrates
C0231443  |  musculoskeletal symptoms
C0206180  |  ki-1 lymphoma
C0206062  |  interstitial lung diseases
C0206062  |  interstitial lung disease
C0206061  |  interstitial pneumonitis
C0206061  |  interstitial pneumonia
C0205969  |  malignant thymoma
C0155686  |  acute myocarditis
C0085786  |  fibrosing alveolitis
C0042769  |  viral infection
C0042721  |  virus hepatitis
C0042338  |  herpes zoster
C0038463  |  strongyloidiasis
C0037116  |  silicosis
C0035222  |  adult respiratory distress syndrome
C0034902  |  pure red cell aplasia
C0034155  |  thrombotic thrombocytopenic purpura
C0034069  |  pulmonary fibrosis
C0032285  |  pneumonitis
C0032285  |  pneumonia
C0032266  |  pneumatosis cystoides intestinalis
C0030472  |  paraneoplastic syndrome
C0030326  |  panniculitis
C0029118  |  opportunistic infections
C0027831  |  von recklinghausen's disease
C0027122  |  muscle calcification
C0027121  |  muscle inflammation
C0026916  |  mycobacterium avium-intracellulare infection
C0025063  |  mediastinal tumor
C0024305  |  non-hodgkin's lymphoma
C0024299  |  malignant lymphoma
C0024282  |  lymphocytosis
C0024115  |  lung disease
C0023283  |  cutaneous leishmaniasis
C0023241  |  legionnaires' disease
C0022660  |  acute renal failure
C0022408  |  arthropathy
C0019829  |  hodgkin's disease
C0018802  |  congestive heart failure
C0018794  |  heart block
C0018213  |  graves' disease
C0017668  |  focal glomerulosclerosis
C0017658  |  glomerulonephritis
C0017152  |  gastritis
C0014858  |  esophageal motility disorder
C0014858  |  esophageal dysmotility
C0011168  |  dysphagia
C0010403  |  cryoglobulinemia
C0010266  |  cranial neuropathy
C0008521  |  choroidopathy
C0008312  |  primary biliary cirrhosis
C0007193  |  dilated cardiomyopathy
C0007134  |  renal cell carcinoma
C0004245  |  av block
C0003490  |  aortic arch syndrome
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:17)
C0024115  |  lung disease  |  11
C0206062  |  interstitial lung disease  |  10
C0003873  |  rheumatoid arthritis  |  3
C0004093  |  weakness  |  3
C0032285  |  pneumonia  |  2
C0027059  |  myocarditis  |  2
C1145670  |  respiratory failure  |  1
C0020542  |  pulmonary hypertension  |  1
C2609059  |  antisynthetase syndrome  |  1
C0009450  |  infection  |  1
C0008312  |  primary biliary cirrhosis  |  1
C0018213  |  graves' disease  |  1
C0206062  |  interstitial lung diseases  |  1
C0019204  |  hepatocellular carcinoma  |  1
C0027121  |  muscle inflammation  |  1
C0442874  |  neuropathy  |  1
C0206061  |  interstitial pneumonia  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:15)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs10069690263205937015TERTumls:C0085655BeFreeChinese 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.0.0002714422015TERT51279675CT
rs10069690263205932065ERBB3umls:C0085655BeFreeChinese 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.0.0002714422015TERT51279675CT
rs11171739263205937015TERTumls:C0085655BeFreeChinese 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.0.0002714422015NA1256076841CT
rs11171739263205932065ERBB3umls:C0085655BeFreeChinese 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.0.0002714422015NA1256076841CT
rs1327711324632671640BLKumls:C0085655BeFreeThe C8orf13-BLK rs13277113A allele was associated with overall polymyositis/dermatomyositis (P<0.001, odds ratio [OR] 1.44, 95% confidence interval [CI] 1.19-1.73), as well as polymyositis (P = 0.011, OR 1.32, 95% CI 1.06-1.64) and dermatomyositis (P<0.001, OR 1.64, 95% CI 1.26-2.12).0.0005428842014NA811491677GA
rs132771132463267183648FAM167Aumls:C0085655BeFreeThe C8orf13-BLK rs13277113A allele was associated with overall polymyositis/dermatomyositis (P<0.001, odds ratio [OR] 1.44, 95% confidence interval [CI] 1.19-1.73), as well as polymyositis (P = 0.011, OR 1.32, 95% CI 1.06-1.64) and dermatomyositis (P<0.001, OR 1.64, 95% CI 1.26-2.12).0.0005428842014NA811491677GA
rs2292239263205937015TERTumls:C0085655BeFreeChinese 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.0.0002714422015ERBB31256088396TG
rs2292239263205932065ERBB3umls:C0085655BeFreeChinese 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.0.0002714422015ERBB31256088396TG
rs2492358263205932065ERBB3umls:C0085655BeFreeChinese 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.0.0002714422015NA934737831CT
rs2492358263205937015TERTumls:C0085655BeFreeChinese 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.0.0002714422015NA934737831CT
rs2853676263205932065ERBB3umls:C0085655BeFreeChinese 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.0.0002714422015TERT51288432TC
rs2853676263205937015TERTumls:C0085655BeFreeChinese 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.0.0002714422015TERT51288432TC
rs951005263205932065ERBB3umls:C0085655BeFreeChinese 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.0.0002714422015NA934743684GA
rs951005263205936366CCL21umls:C0085655BeFreeA single-nucleotide polymorphism of CCL21 rs951005 T>C is associated with susceptibility of polymyositis and such patients with interstitial lung disease in a Chinese Han population.0.0032672342015NA934743684GA
rs951005263205937015TERTumls:C0085655BeFreeChinese 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.0.0002714422015NA934743684GA
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:15)
HP ID HP Name MP ID MP Name Annotation
HP:0005150Abnormal atrioventricular conductionMP:0003137abnormal impulse conducting system conductionany functional anomaly in the impulse-conducting system composed of modified cardiac muscle and having the power of spontaneous rhythmicity and conduction more highly developed than the rest of the heart
HP:0000091Abnormality of the renal tubuleMP:0011665d-loop transposition of the great arteriescomplete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th
HP:0002239Gastrointestinal hemorrhageMP:0012305umbilical cord hemorrhagebleeding into or from the umbilical cord
HP:0003701Proximal muscle weaknessMP:0000748progressive muscle weaknessincreasing loss of muscle strength over time
HP:0001608Abnormality of the voiceMP:0013283failure of ventral body wall closurefailure 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:0001639Hypertrophic cardiomyopathyMP:0005330cardiomyopathydiseases of the heart (myocardium); may result from many causes
HP:0003236Elevated serum creatine phosphokinaseMP:0020280increased creatine kinase levelincreased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine
HP:0003002Breast carcinomaMP:0010367increased spindle cell carcinoma incidencegreater 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:0001252Muscular hypotoniaMP:0004144hypotoniadecreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness
HP:0001633Abnormality of the mitral valveMP:0010919increased number of pulmonary neuroendocrine bodiesgreater 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:0001644Dilated cardiomyopathyMP:0005330cardiomyopathydiseases of the heart (myocardium); may result from many causes
HP:0001824Weight lossMP:0005114premature hair lossrelease of fur at an earlier than expected time
HP:0002206Pulmonary fibrosisMP:0009419skeletal muscle fibrosisformation of fibrous tissue within skeletal muscle as a result of repair or a reactive process
HP:0006530Interstitial pulmonary diseaseMP:0002295abnormal pulmonary circulationany anomaly in the circulation of blood through the lungs
HP:0001635Congestive heart failureMP:0011925abnormal heart echocardiography featureany anomaly in echocardiographic representation of systolic and diastolic function, ventricular compliance, valvular function, or interventricular septum features
Mapped by homologous gene(Total Items:39)
HP ID HP Name MP ID MP Name Annotation
HP:0001252Muscular hypotoniaMP:3000003abnormal Ebner's gland morphologyany 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:0012735CoughMP:0014185cerebellum atrophyacquired 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:0001945FeverMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0011675ArrhythmiaMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0001369ArthritisMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0001288Gait disturbanceMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002206Pulmonary fibrosisMP:0014233bile duct epithelium hyperplasia
HP:0002633VasculitisMP:0020154impaired humoral immune responseimpaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0000091Abnormality of the renal tubuleMP:0020234decreased basal metabolismdecrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state
HP:0002240HepatomegalyMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002093Respiratory insufficiencyMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0002960AutoimmunityMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0001701PericarditisMP:0011405tubulointerstitial nephritisdiffuse 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:0001618DysphoniaMP:0013659abnormal erythroid lineage cell morphologyany structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes
HP:0002239Gastrointestinal hemorrhageMP:0020215impaired blood coagulationimpaired ability of the blood to clot
HP:0000934ChondrocalcinosisMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0001639Hypertrophic cardiomyopathyMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0005150Abnormal atrioventricular conductionMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0012378FatigueMP:0013659abnormal erythroid lineage cell morphologyany structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes
HP:0003701Proximal muscle weaknessMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001644Dilated cardiomyopathyMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002039AnorexiaMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0003236Elevated serum creatine phosphokinaseMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0001824Weight lossMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0002829ArthralgiaMP:0020154impaired humoral immune responseimpaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0002027Abdominal painMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0001608Abnormality of the voiceMP:0020214susceptible to malignant hyperthermiaincreased 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:0006530Interstitial pulmonary diseaseMP:0011846decreased kidney collecting duct numbersmaller 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:0001633Abnormality of the mitral valveMP:0014164abnormal 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:0003326MyalgiaMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0002020Gastroesophageal refluxMP:0014178increased brain apoptosisincrease in the number of cells of the brain undergoing programmed cell death
HP:0002875Exertional dyspneaMP:0013405increased circulating lactate levelgreater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase
HP:0003457EMG abnormalityMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0004936Venous thrombosisMP:0014166ectopic cranial bonethe appearance of an extra bone structure at an atypical location in or near the cranium
HP:0001635Congestive heart failureMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001658Myocardial infarctionMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0002019ConstipationMP:0020234decreased basal metabolismdecrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state
HP:0003002Breast carcinomaMP:0020039increased bone ossificationincrease 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:0001315Reduced tendon reflexesMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
Disease ID 322
Disease polymyositis
Case(Waiting for update.)