eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| relapsing polychondritis | ||||
| Disease ID | 687 |
|---|---|
| Disease | relapsing polychondritis |
| Definition | An acquired disease of unknown etiology, chronic course, and tendency to recur. It is characterized by inflammation and degeneration of cartilage and can result in deformities such as floppy ear and saddle nose. Loss of cartilage in the respiratory tract can lead to respiratory obstruction. |
| Synonym | atrophic polychondritides, chronic atrophic polychondritis, chronic chondromalacia, systemic chronic atrophic polychondritides chronic atrophic polychondritis chronic polychondritis meyenburg's disease panchondritis polychondritides, chronic atrophic polychondritides, relapsing polychondritis relapsing polychondritis, chronic atrophic polychondritis, relapsing polychondritis, relapsing [disease/finding] relapsing polychondritides relapsing polychondritis (disorder) systemic chondromalacia systemic chondromalacia (disorder) systemic chondromalacia -retired- |
| Orphanet | |
| DOID | |
| ICD10 | |
| UMLS | C0032453 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:21) C0014038 | encephalitis | 2 C0042165 | anterior uveitis | 1 C0036416 | scleritis | 1 C0036202 | sarcoidosis | 1 C0039263 | takayasu arteritis | 1 C0040583 | tracheal stenosis | 1 C0038013 | ankylosing spondylitis | 1 C0033860 | psoriasis | 1 C0085700 | chondromalacia | 1 C0003509 | aortitis | 1 C0019158 | hepatitis | 1 C0027059 | myocarditis | 1 C0038012 | spondylitis | 1 C0043117 | immune thrombocytopenic purpura | 1 C0025309 | meningoencephalitis | 1 C0009324 | ulcerative colitis | 1 C0019196 | hepatitis c | 1 C0031046 | pericarditis | 1 C0042769 | virus infection | 1 C0018784 | sensorineural hearing loss | 1 C0042164 | uveitis | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:18) 415 | ARSE | 1.86 | DISEASES 388372 | CCL4L1 | 1.024 | DISEASES 9560 | CCL4L2 | 1.836 | DISEASES 912 | CD1D | 1.16 | DISEASES 959 | CD40LG | 1.615 | DISEASES 1043 | CD52 | 1.193 | DISEASES 79947 | DHDDS | 1.453 | DISEASES 3119 | HLA-DQB1 | 1.069 | DISEASES 3120 | HLA-DQB2 | 1.182 | DISEASES 3274 | HRH2 | 1.278 | DISEASES 4000 | LMNA | 1.007 | DISEASES 4146 | MATN1 | 5.228 | DISEASES 55124 | PIWIL2 | 2.154 | DISEASES 7955 | RNF217-AS1 | 2.188 | DISEASES 23583 | SMUG1 | 2.926 | DISEASES 54790 | TET2 | 3.61 | DISEASES 7124 | TNF | 2.706 | DISEASES 7133 | TNFRSF1B | 3.008 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 687 |
|---|---|
| Disease | relapsing polychondritis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:41) HP:0012733 | Macule HP:0002094 | Dyspnea HP:0000518 | Cataract HP:0001601 | Laryngomalacia HP:0100662 | Chondritis HP:0001376 | Limitation of joint mobility HP:0002793 | Abnormal pattern of respiration HP:0000093 | Proteinuria HP:0000083 | Renal insufficiency HP:0010783 | Erythema HP:0002829 | Arthralgia HP:0200047 | Chondritis of pinna HP:0001545 | Anteriorly placed anus HP:0100820 | Glomerulopathy HP:0004306 | Abnormality of the endocardium HP:0100533 | Inflammatory abnormality of the eye HP:0100534 | Episcleritis HP:0005310 | Large vessel vasculitis HP:0000790 | Hematuria HP:0000979 | Purpura HP:0000407 | Sensorineural hearing impairment HP:0002617 | Aneurysm HP:0000554 | Uveitis HP:0100532 | Scleritis HP:0001646 | Abnormality of the aortic valve HP:0004936 | Venous thrombosis HP:0100750 | Atelectasis HP:0012819 | Myocarditis HP:0000491 | Keratitis HP:0012735 | Cough HP:0001701 | Pericarditis HP:0011107 | Recurrent aphthous stomatitis HP:0002321 | Vertigo HP:0001596 | Alopecia HP:0001369 | Arthritis HP:0004422 | Biparietal narrowing HP:0000509 | Conjunctivitis HP:0006824 | Cranial nerve paralysis HP:0012115 | Hepatitis HP:0100758 | Gangrene HP:0004418 | Thrombophlebitis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:16) HP:0002383 | Encephalitis | 2 HP:0012089 | Arteritis | 1 HP:0003765 | Psoriasis | 1 HP:0000407 | sensorineural hearing loss | 1 HP:0012115 | Liver inflammation | 1 HP:0002647 | Aortic dissection | 1 HP:0100550 | Rupture of tendons | 1 HP:0002616 | Aortic root dilatation | 1 HP:0008619 | Bilateral sensorineural hearing impairment | 1 HP:0100279 | Ulcerative colitis | 1 HP:0000554 | Uveitis | 1 HP:0100532 | Scleritis | 1 HP:0012714 | Severe hearing loss | 1 HP:0002777 | Tracheal stenosis | 1 HP:0001701 | Pericarditis | 1 HP:0012122 | Anterior uveitis | 1 |
| Disease ID | 687 |
|---|---|
| Disease | relapsing polychondritis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:67) C2697391 | rheumatoid arthritis C2632116 | stenosis C2186530 | kidney disease C2072946 | aortic aneurysm C1963274 | vasculitis C1963266 | uveitis C1963229 | retinal detachment C1704356 | enchondroma C1393529 | vascular complications C1148477 | sudden deafness C1142517 | lupus anticoagulant C0948008 | ischemic stroke C0917996 | cerebral aneurysm C0865850 | acute respiratory insufficiency C0694550 | recurrent pneumonia C0343192 | microscopic polyangiitis C0340231 | tracheobronchomalacia C0338430 | paraneoplastic limbic encephalitis C0338430 | limbic encephalitis C0267809 | cryptogenic cirrhosis C0263398 | erythema elevatum diutinum C0238051 | cerebral vasculitis C0235618 | proliferative glomerulonephritis C0231818 | airway constriction C0155145 | chronic conjunctivitis C0155067 | marginal corneal ulcer C0079293 | epidermolysis bullosa acquisita C0043325 | xanthomatosis C0040583 | tracheal stenosis C0040053 | thrombosis C0039070 | syncope C0037274 | dermatosis C0036416 | scleritis C0032266 | pneumatosis cystoides intestinalis C0031111 | periostitis C0029132 | optic neuropathy C0027547 | necrotizing scleritis C0026986 | myelodysplastic syndrome C0026266 | mitral regurgitation C0025289 | meningitis C0024799 | marginal ulcer C0024299 | lymphoma C0022568 | keratitis C0022408 | arthropathy C0022116 | ischemia C0022073 | iridocyclitis C0017661 | iga nephropathy C0017658 | glomerulonephritis C0015300 | exophthalmos C0014040 | encephalitis lethargica C0014038 | encephalitis C0011854 | insulin dependent diabetes mellitus C0011608 | dermatitis herpetiformis C0009324 | ulcerative colitis C0008479 | chondrosarcoma C0007773 | cerebral arteritis C0007766 | intracranial aneurysm C0007682 | central nervous system disease C0004245 | atrioventricular blocks C0003864 | arthritis C0003509 | aortitis C0003504 | aortic regurgitation C0003504 | aortic incompetence C0003486 | aortic aneurysms C0001883 | respiratory obstruction C0001883 | airway obstruction C0001363 | acute mesenteric ischemia |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:9) C0014038 | encephalitis | 2 C0036416 | scleritis | 1 C0040583 | tracheal stenosis | 1 C0042164 | uveitis | 1 C0003509 | aortitis | 1 C0338430 | limbic encephalitis | 1 C0009814 | stenosis | 1 C0027547 | necrotizing scleritis | 1 C0009324 | ulcerative colitis | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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:0004306 | Abnormality of the endocardium | MP:0009889 | persistence of medial edge epithelium during palatal shelf fusion | palatal shelves meet at the midline during development but do not adhere along the medial edge epithelia, and fail to form the midline epithelial seam |
| HP:0100533 | Inflammatory abnormality of the eye | 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:0001646 | Abnormality of the aortic valve | 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:0001376 | Limitation of joint mobility | MP:0010732 | abnormal node of Ranvier morphology | any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon |
| HP:0001545 | Anteriorly placed anus | MP:0005034 | abnormal anus morphology | any structural anomaly of the lower opening of the digestive tract |
| 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:0000407 | Sensorineural hearing impairment | MP:0006330 | syndromic hearing impairment | hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms |
| 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 |
Mapped by homologous gene(Total Items:36) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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:0001646 | Abnormality of the aortic valve | 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:0000509 | Conjunctivitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0004306 | Abnormality of the endocardium | MP:0011143 | thick lung-associated mesenchyme | increased thickness of the mesenchymal cell layer due to delay or failure of the mesenchymal compartment to thin down during the late stages of embryonic lung development |
| 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:0100534 | Episcleritis | MP:0011080 | increased macrophage apoptosis | greater incidence of cell death in macrophages |
| HP:0001376 | Limitation of joint mobility | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100750 | Atelectasis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000407 | Sensorineural hearing impairment | 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:0002094 | Dyspnea | 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:0001601 | Laryngomalacia | MP:0014152 | absent exorbital lacrimal gland | absence of the large extra-orbital lacrimal gland that, in mice, is normally located subcutaneously at the anteroventral base of the ear adjacent to the parotid gland |
| HP:0006824 | Cranial nerve paralysis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100820 | Glomerulopathy | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0000518 | Cataract | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000093 | Proteinuria | 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: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:0100533 | Inflammatory abnormality of the eye | 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:0001545 | Anteriorly placed anus | MP:0014152 | absent exorbital lacrimal gland | absence of the large extra-orbital lacrimal gland that, in mice, is normally located subcutaneously at the anteroventral base of the ear adjacent to the parotid gland |
| HP:0002617 | Aneurysm | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002321 | Vertigo | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0002829 | Arthralgia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000554 | Uveitis | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0005310 | Large vessel vasculitis | MP:0013693 | abnormal hemopoiesis | any anomaly in the process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure; the site of hemopoiesis is variable d |
| 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: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:0004422 | Biparietal narrowing | 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:0004936 | Venous thrombosis | MP:0014166 | ectopic cranial bone | the appearance of an extra bone structure at an atypical location in or near the cranium |
| HP:0011107 | Recurrent aphthous stomatitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000979 | Purpura | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0004418 | Thrombophlebitis | 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:0012115 | Hepatitis | MP:0013716 | hypolactation | partial failure, or reduced ability to produce or secrete milk from the mammary gland |
| 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:0000491 | Keratitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001596 | Alopecia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| Disease ID | 687 |
|---|---|
| Disease | relapsing polychondritis |
| Case | (Waiting for update.) |