{"Name":"Systemic-onset juvenile idiopathic arthritis","DiseaseID__c":"GARD:0010966","id":10966,"encodedName":"systemic-onset-juvenile-idiopathic-arthritis","IsDeleted":false,"Disease_Name_Full__c":"Systemic-onset juvenile idiopathic arthritis","Xref_IDs__c":"201796004; C119031; C1858558; C565798; MEDGEN:346934; MONDO:0019434; ORPHA:85414","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":3,"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":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019434","Disease_Description__c":"A rare pediatric rheumatological disease characterized by the variable occurrence of chronic arthritis, intermittent high spiking fever, maculopapular rash during fever episodes, hepatomegaly and/or splenomegaly, lymphadenopathy, and serositis.","GARD_Name__c":"Systemic-onset juvenile idiopathic arthritis","GARD_Synonym__c":"sjia; sojia; still disease; systemic polyarthritis; systemic-onset jia","Curated_Disease_Description_Source__c":"MONDO:0019434","Curated_Disease_Description__c":"A rare pediatric rheumatological disease characterized by the variable occurrence of chronic arthritis, intermittent high spiking fever, maculopapular rash during fever episodes, hepatomegaly and/or splenomegaly, lymphadenopathy, and serositis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:85414","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019434","ORPHANET_ID__c":"ORPHA:85414","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Artritis idiopática juvenil de inicio sistémico","Spanish_Description_Source__c":"ORPHA:85414","Spanish_Description__c":"Es una enfermedad reumatológica pediátrica poco frecuente caracterizada por la aparición variable de artritis crónica, fiebre alta intermitente, erupción maculopapular durante los episodios febriles, hepatomegalia y/o esplenomegalia, linfadenopatía y serositis.","Spanish_Disease_Name__c":"artritis idiopática juvenil de inicio sistémico","Spanish_GARD_Synonym__c":"aij de inicio sistémico; enfermedad de still","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":"A rare pediatric rheumatological disease characterized by the variable occurrence of chronic arthritis, intermittent high spiking fever, maculopapular rash during fever episodes, hepatomegaly and/or splenomegaly, lymphadenopathy, and serositis.","Curated_Disease_Description_Source__c":"MONDO:0019434","GARD_Synonym__c":"sjia; sojia; still disease; systemic polyarthritis; systemic-onset jia","Name":"Systemic-onset juvenile idiopathic arthritis","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":"Rare Autoinflammatory Conditions Community - UK","Website__c":"https://www.raccuk.com/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Pulmonology","Tag_Category__c":"Disease Category;Specialist","category_description":"Respiratory diseases affect the nose, mouth, throat, voice box, windpipe, lungs, or blood vessels.","curated_tag_name":"Respiratory diseases"},{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:85414"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010966","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1858558","Source__c":"C1858558","Xref__c":"C1858558"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=346934","Source__c":"C1858558","Xref__c":"MEDGEN:346934"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565798","Source__c":"MONDO:0019434","Xref__c":"C565798"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=201796004","Source__c":"MONDO:0019434","Xref__c":"201796004"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C119031","Source__c":"MONDO:0019434","Xref__c":"C119031"},{"URL__c":"https://www.orpha.net/en/disease/detail/85414","Source__c":"C1858558; MONDO:0019434","Xref__c":"ORPHA:85414"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019434","Source__c":"GARD:0010966","Xref__c":"MONDO:0019434"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"IL6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MIF","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:85414","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an excessive amount of fluid in the pleural cavity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002202","HPO_Synonym__c":"Fluid around lungs","HPO_Name__c":"Pleural effusion","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85414","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000938","HPO_Synonym__c":"Generalized osteopenia","HPO_Name__c":"Osteopenia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85414","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The occurrence of an immune reaction against the organism's own cells or tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002960","HPO_Synonym__c":"Autoimmune condition; Autoimmune disease; Autoimmune disorder; Autoimmunity","HPO_Name__c":"Autoimmunity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85414","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Joint pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002829","HPO_Synonym__c":"Arthralgias; 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Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85414","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85414","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal elevation of the C-reactive protein level in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011227","HPO_Synonym__c":"Elevated C-reactive protein level","HPO_Name__c":"Elevated circulating C-reactive protein concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:85414","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A red eruption of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000988","HPO_Synonym__c":"Skin rash","HPO_Name__c":"Skin rash","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85414","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005681","HPO_Synonym__c":"Juvenile idiopathic arthritis; Juvenile RA; Rheumatoid arthritis, juvenile","HPO_Name__c":"Juvenile rheumatoid arthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85414","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85414","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inflammation of a joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001369","HPO_Synonym__c":"Arthritis; Joint inflammation","HPO_Name__c":"Arthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85414","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally elevated blood pressure in the circulation of the pulmonary artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004890","HPO_Synonym__c":"Elevated lung artery pressure; increased pulmonary artery pressure","HPO_Name__c":"Elevated pulmonary artery pressure","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85414","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Enlargement (swelling) of a lymph node.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002716","HPO_Synonym__c":"Lymph node hyperplasia; Swollen lymph nodes","HPO_Name__c":"Lymphadenopathy","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85414","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the layers of tissue that cover the brain and spinal cord (meninges) and of the fluid-filled space between the meninges (subarachnoid space) when it is caused by disorders that are not infections or by drugs or vaccines.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033430","HPO_Synonym__c":"Aseptic meningitis","HPO_Name__c":"Non-infectious meningitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85414","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the sac-like covering around the heart (pericardium).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001701","HPO_Synonym__c":"Swelling or irritation of membrane around heart","HPO_Name__c":"Pericarditis","Feature_System__c":"Cardiovascular System; 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The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003565","HPO_Synonym__c":"Elevated ESR; Elevated sedimentation rate; High erythrocyte sedimentation rate; High ESR; Increased erythrocyte sedimentation rate; Raised erythrocyte sedimentation rate","HPO_Name__c":"Elevated erythrocyte sedimentation rate","HPO_Feature_Type__c":"Lab"}}],"tags":{"Disease Category":["Pulmonology"],"Specialist":["Pulmonology","Rheumatology","Pediatrics"]},"synonyms":["sjia"," sojia"," still disease"," systemic polyarthritis"," systemic-onset jia"]}