{"Name":"Relapsing polychondritis","DiseaseID__c":"GARD:0007417","id":7417,"encodedName":"relapsing-polychondritis","IsDeleted":false,"Disease_Name_Full__c":"Relapsing polychondritis","Xref_IDs__c":"72275000; C0032453; C157268; D011081; DOID:2556; M94.1; MEDGEN:45995; MONDO:0019125; ORPHA:728","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019125","Disease_Description__c":"A rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage along with joint, ocular and cardiovascular involvement.","GARD_Name__c":"Relapsing polychondritis","GARD_Synonym__c":"chondromalacia, systemic; chronic polychondritis; meyenburg's disease; polychondropathia; systemic chondromalacia","Curated_Disease_Description_Source__c":"GARD:0007417","Curated_Disease_Description__c":"Relapsing polychondritis (RP) is characterized by recurrent swelling and inflammation of cartilage and other tissues throughout the body. Cartilage is a tough but flexible tissue that covers the ends of bones at a joint and gives shape and support to other parts of the body. Other parts of the body that may be involved are the airways (trachea), costal (rib) cartilage, eyes, heart, vascular (veins) system, skin, kidney, and nervous system. The signs and symptoms vary from person to person depending on which parts of the body are affected. The exact underlying cause of RP is unknown. There are thought to be genetic and other unknown factors involved. RP often occurs along with autoimmune conditions. Diagnosis is based on the symptoms and clinical examination. Other more common conditions may need to be excluded before RP can be diagnosed.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:728","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019125","ORPHANET_ID__c":"ORPHA:728","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Policondritis recidivante","Spanish_Description_Source__c":"ORPHA:728","Spanish_Description__c":"Es una enfermedad inflamatoria multisistémica, poco frecuente, clínicamente heterogénea, caracterizada por la inflamación del cartílago y las estructuras ricas en proteoglicanos que conducen al daño del cartílago junto con afectación articular, ocular y cardiovascular.","Spanish_Disease_Name__c":"policondritis recidivante","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98023","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Relapsing polychondritis (RP) is characterized by recurrent swelling and inflammation of cartilage and other tissues throughout the body. Cartilage is a tough but flexible tissue that covers the ends of bones at a joint and gives shape and support to other parts of the body. Other parts of the body that may be involved are the airways (trachea), costal (rib) cartilage, eyes, heart, vascular (veins) system, skin, kidney, and nervous system. The signs and symptoms vary from person to person depending on which parts of the body are affected. The exact underlying cause of RP is unknown. There are thought to be genetic and other unknown factors involved. RP often occurs along with autoimmune conditions. Diagnosis is based on the symptoms and clinical examination. Other more common conditions may need to be excluded before RP can be diagnosed.","Curated_Disease_Description_Source__c":"GARD:0007417","GARD_Synonym__c":"chondromalacia, systemic; chronic polychondritis; meyenburg's disease; polychondropathia; systemic chondromalacia","Name":"Relapsing polychondritis","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The International Foundation for Autoimmune & Autoinflammatory Arthritis","Website__c":"https://www.aiarthritis.org/"},{"Account_Name__c":"Autoimmune Registry","Website__c":"https://www.autoimmuneregistry.org/"},{"Account_Name__c":"Global Autoimmune Institute","Website__c":"https://www.autoimmuneinstitute.org/"},{"Account_Name__c":"Arthritis Foundation","Website__c":"https://www.arthritis.org"},{"Account_Name__c":"Autoimmune Association","Website__c":"https://autoimmune.org/"},{"Account_Name__c":"Relapsing Polychondritis Foundation","Website__c":"https://polychondritis.org/"},{"Account_Name__c":"Canadian Society for Relapsing Polychondritis","Website__c":"https://polychondritis.ca/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:728"}],"External_Identifier_Disease__c":[{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/M94.1","Source__c":"MONDO:0019125","Xref__c":"M94.1"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C011081","Source__c":"C0032453; MONDO:0019125","Xref__c":"D011081"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=72275000","Source__c":"C0032453; MONDO:0019125","Xref__c":"72275000"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A2556","Source__c":"MONDO:0019125","Xref__c":"DOID:2556"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0032453","Source__c":"C0032453","Xref__c":"C0032453"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=45995","Source__c":"C0032453","Xref__c":"MEDGEN:45995"},{"URL__c":"https://www.orpha.net/en/disease/detail/728","Source__c":"C0032453; MONDO:0019125; ORPHA:728","Xref__c":"ORPHA:728"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C157268","Source__c":"C0032453; MONDO:0019125","Xref__c":"C157268"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019125","Source__c":"GARD:0007417","Xref__c":"MONDO:0019125"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:728","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased levels of protein in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000093","HPO_Synonym__c":"High urine protein levels; Protein in urine","HPO_Name__c":"Proteinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:728","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of blood in the urine. 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They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000979","HPO_Synonym__c":"Red or purple spots on the skin","HPO_Name__c":"Purpura","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:728","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002094","HPO_Synonym__c":"Abnormal breathing; Breathing difficulty; Difficult to breathe; Difficulty breathing; Shortness of breath; Trouble breathing","HPO_Name__c":"Dyspnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:728","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies in the serum that react against nuclei or nuclear components.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003493","HPO_Synonym__c":"Antinuclear antibodies; Antinuclear antibody positive; Elevated antinuclear antibody; Serum antinuclear antibody","HPO_Name__c":"Antinuclear antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:728","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A noncongenital process of hair loss, which may progress to partial or complete baldness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001596","HPO_Synonym__c":"Hair loss","HPO_Name__c":"Alopecia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:728","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000491","HPO_Synonym__c":"Corneal inflammation","HPO_Name__c":"Keratitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:728","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; 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