PedAM

Pediatric Disease Annotations & Medicines


	relapsing polychondritis

Disease ID	407
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	ORPHANET:728
DOID	DOID:2556
ICD10	ICD10CM:M94.1
UMLS	C0032453
MeSH	D011081
SNOMED-CT	SNOMEDCT_US_2016_09_01:72275000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:21) C0014038 \| encephalitis \| 2 C0036202 \| sarcoidosis \| 1 C0019158 \| hepatitis \| 1 C0003509 \| aortitis \| 1 C0009324 \| ulcerative colitis \| 1 C0042769 \| virus infection \| 1 C0033860 \| psoriasis \| 1 C0038012 \| spondylitis \| 1 C0042165 \| anterior uveitis \| 1 C0036416 \| scleritis \| 1 C0019196 \| hepatitis c \| 1 C0085700 \| chondromalacia \| 1 C0040583 \| tracheal stenosis \| 1 C0025309 \| meningoencephalitis \| 1 C0027059 \| myocarditis \| 1 C0039263 \| takayasu arteritis \| 1 C0043117 \| immune thrombocytopenic purpura \| 1 C0031046 \| pericarditis \| 1 C0018784 \| sensorineural hearing loss \| 1 C0042164 \| uveitis \| 1 C0038013 \| ankylosing spondylitis \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:36) 2936 \| GSR \| DISEASES 8797 \| TNFRSF10A \| DISEASES 973 \| CD79A \| DISEASES 1311 \| COMP \| DISEASES 4353 \| MPO \| DISEASES 4256 \| MGP \| DISEASES 3458 \| IFNG \| DISEASES 3567 \| IL5 \| DISEASES 5917 \| RARS \| DISEASES 5657 \| PRTN3 \| DISEASES 2023 \| ENO1 \| DISEASES 54210 \| TREM1 \| DISEASES 6351 \| CCL4 \| DISEASES 1401 \| CRP \| DISEASES 3569 \| IL6 \| DISEASES 3557 \| IL1RN \| DISEASES 27242 \| TNFRSF21 \| DISEASES 56246 \| MRAP \| DISEASES 23583 \| SMUG1 \| DISEASES 55124 \| PIWIL2 \| DISEASES 79947 \| DHDDS \| DISEASES 912 \| CD1D \| DISEASES 4000 \| LMNA \| DISEASES 959 \| CD40LG \| DISEASES 4146 \| MATN1 \| DISEASES 1043 \| CD52 \| DISEASES 7133 \| TNFRSF1B \| DISEASES 3274 \| HRH2 \| DISEASES 54790 \| TET2 \| DISEASES 415 \| ARSE \| DISEASES 9560 \| CCL4L2 \| DISEASES 3119 \| HLA-DQB1 \| DISEASES 3120 \| HLA-DQB2 \| DISEASES 7124 \| TNF \| DISEASES 388372 \| CCL4L1 \| DISEASES 7955 \| RNF217-AS1 \| DISEASES
Locus	(Waiting for update.)

Disease ID	407
Disease	relapsing polychondritis
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:41) HP:0100534 \| Episcleritis HP:0000407 \| Sensorineural hearing impairment HP:0012735 \| Cough HP:0002829 \| Arthralgia HP:0012733 \| Macule HP:0000979 \| Purpura HP:0100532 \| Scleritis HP:0100820 \| Glomerulopathy HP:0002617 \| Aneurysm HP:0004422 \| Biparietal narrowing HP:0005310 \| Large vessel vasculitis HP:0002321 \| Vertigo HP:0001596 \| Alopecia HP:0002793 \| Abnormal pattern of respiration HP:0004418 \| Thrombophlebitis HP:0004936 \| Venous thrombosis HP:0100533 \| Inflammatory abnormality of the eye HP:0100758 \| Gangrene HP:0000083 \| Renal insufficiency HP:0100750 \| Atelectasis HP:0001545 \| Anteriorly placed anus HP:0002094 \| Dyspnea HP:0000093 \| Proteinuria HP:0200047 \| Chondritis of pinna HP:0011107 \| Recurrent aphthous stomatitis HP:0000509 \| Conjunctivitis HP:0001376 \| Limitation of joint mobility HP:0000790 \| Hematuria HP:0000554 \| Uveitis HP:0000491 \| Keratitis HP:0001369 \| Arthritis HP:0001701 \| Pericarditis HP:0004306 \| Abnormality of the endocardium HP:0000518 \| Cataract HP:0012115 \| Hepatitis HP:0006824 \| Cranial nerve paralysis HP:0012819 \| Myocarditis HP:0001646 \| Abnormality of the aortic valve HP:0001601 \| Laryngomalacia HP:0100662 \| Chondritis HP:0010783 \| Erythema
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:16) HP:0002383 \| Encephalitis \| 2 HP:0000554 \| Uveitis \| 1 HP:0012115 \| Liver inflammation \| 1 HP:0100532 \| Scleritis \| 1 HP:0008619 \| Bilateral sensorineural hearing impairment \| 1 HP:0002647 \| Aortic dissection \| 1 HP:0003765 \| Psoriasis \| 1 HP:0012122 \| Anterior uveitis \| 1 HP:0002616 \| Aortic root dilatation \| 1 HP:0000407 \| sensorineural hearing loss \| 1 HP:0100279 \| Ulcerative colitis \| 1 HP:0012714 \| Severe hearing loss \| 1 HP:0012089 \| Arteritis \| 1 HP:0001701 \| Pericarditis \| 1 HP:0002777 \| Tracheal stenosis \| 1 HP:0100550 \| Rupture of tendons \| 1

Disease ID	407
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 C0009814 \| stenosis \| 1 C0009324 \| ulcerative colitis \| 1 C0042164 \| uveitis \| 1 C0338430 \| limbic encephalitis \| 1 C0003509 \| aortitis \| 1 C0027547 \| necrotizing scleritis \| 1

Manually Genotype(Total Text Mining Genotypes:0)
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All Snps(Total Genotypes:0)
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GWASdb Annotation(Total Genotypes:0)
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GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:0)
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FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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