{"Name":"Rheumatoid factor-negative juvenile idiopathic arthritis","DiseaseID__c":"GARD:0003931","id":3931,"encodedName":"rheumatoid-factor-negative-juvenile-idiopathic-arthritis","IsDeleted":false,"Disease_Name_Full__c":"Rheumatoid factor-negative juvenile idiopathic arthritis","Xref_IDs__c":"C119033; C3890205; MEDGEN:855549; MONDO:0019432; ORPHA:85408","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","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:0019432","Disease_Description__c":"A rare form of polyarticular juvenile idiopathic arthritis characterized by childhood-onset chronic arthritis of unknown cause involving five or more joints at disease onset and absence of rheumatoid factor IgM.","GARD_Name__c":"Rheumatoid factor-negative juvenile idiopathic arthritis","GARD_Synonym__c":"juvenile chronic arthritis, polyarticular seronegative; juvenile idiopathic arthritis, polyarthritis, rheumatoid factor negative; juvenile polyarthritis without rheumatoid factor; juvenile rheumatoid factor-negative polyarthritis; juvenile seronegative polyarthritis; polyarthritis without rheumatoid factor; rheumatoid factor-negative jia; rheumatoid factor-negative polyarticular jia; rheumatoid factor-negative polyarticular juvenile idiopathic arthritis","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis is a rare type of arthritis that affects children.  The cause of this type of arthritis is unknown. It is characterized by the absence of a specific antibody called rheumatoid factor IgM and affects five or more joints from the time of onset.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:85408","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019432","ORPHANET_ID__c":"ORPHA:85408","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Artritis idiopática juvenil poliarticular factor reumatoide negativo","Spanish_Description_Source__c":"ORPHA:85408","Spanish_Description__c":"Es una forma poco frecuente de artritis idiopática juvenil poliarticular caracterizada por artritis crónica de causa desconocida de inicio en la infancia, afectando a cinco o más articulaciones al comienzo de la enfermedad y ausencia de factor reumatoide IgM.","Spanish_Disease_Name__c":"artritis idiopática juvenil poliarticular factor reumatoide negativo","Spanish_GARD_Synonym__c":"aij poliarticular factor reumatoide negativo; poliartritis juvenil factor reumatoide negativo; poliartritis juvenil sin factor reumatoide","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":"Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis is a rare type of arthritis that affects children.  The cause of this type of arthritis is unknown. It is characterized by the absence of a specific antibody called rheumatoid factor IgM and affects five or more joints from the time of onset.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"juvenile chronic arthritis, polyarticular seronegative; juvenile idiopathic arthritis, polyarthritis, rheumatoid factor negative; juvenile polyarthritis without rheumatoid factor; juvenile rheumatoid factor-negative polyarthritis; juvenile seronegative polyarthritis; polyarthritis without rheumatoid factor; rheumatoid factor-negative jia; rheumatoid factor-negative polyarticular jia; rheumatoid factor-negative polyarticular juvenile idiopathic arthritis","Name":"Rheumatoid factor-negative juvenile idiopathic arthritis","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Arthritis Foundation","Website__c":"https://www.arthritis.org"}],"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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:85408"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003931","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/85408","Source__c":"C3890205; MONDO:0019432; ORPHA:85408","Xref__c":"ORPHA:85408"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=855549","Source__c":"C3890205","Xref__c":"MEDGEN:855549"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3890205","Source__c":"C3890205","Xref__c":"C3890205"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C119033","Source__c":"C3890205","Xref__c":"C119033"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019432","Source__c":"GARD:0003931","Xref__c":"MONDO:0019432"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=410797009","Source__c":"C3890205","Xref__c":"410797009"}],"Inheritance__c":["Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:85408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the hip joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001384","HPO_Synonym__c":"Abnormality of the hip joint","HPO_Name__c":"Abnormal hip joint morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of the cervical vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003319","HPO_Synonym__c":"Abnormal cervical spine; Abnormality of cervical vertebra; Abnormality of the cervical vertebrae; Cervical spine abnormalities; Cervical vertebral abnormalities; Disorder of cervical vertebra","HPO_Name__c":"Abnormality of the cervical spine","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the temporomandibular joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010754","HPO_Synonym__c":"Abnormality of the jaw joint; Anomaly of the temporomandibular joint; Deformity of the jaw joint; Malformation of jaw joint","HPO_Name__c":"Abnormality of the temporomandibular joint","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85408","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:85408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001371","HPO_Synonym__c":"Flexed joint that cannot be straightened; Flexion contractures; Flexion contractures of joints","HPO_Name__c":"Flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85408","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Simultaneous enlargement of the liver and spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001433","HPO_Synonym__c":"Enlarged liver and spleen","HPO_Name__c":"Hepatosplenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Mild fever that does not exceed 38.5 degrees centigrade.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011134","HPO_Synonym__c":"Low-grade fever; Mild fever","HPO_Name__c":"Low-grade fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85408","HPO_Frequency__c":"Frequent (30-79%)","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:85408","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100769","HPO_Name__c":"Synovitis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85408","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001785","HPO_Synonym__c":"Ankle swelling","HPO_Name__c":"Ankle swelling","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of a metacarpophalangeal joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011911","HPO_Synonym__c":"Abnormality of metacarpophalangeal joint; Abnormality of the knuckle","HPO_Name__c":"Abnormal metacarpophalangeal joint morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85408","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001094","HPO_Name__c":"Iridocyclitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85408","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Synovial hyperplasia involves proliferation of mesenchymal stromal/stem cells and leads to synovial thickening, which can be observed radiographically.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005186","HPO_Synonym__c":"Synovial hyperplasia; Synovial hypertrophy","HPO_Name__c":"Synovial lining hyperplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85408","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001386","HPO_Synonym__c":"Joint swelling","HPO_Name__c":"Joint swelling","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of arthritis that affects up to four joints in the first six months of disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040313","HPO_Name__c":"Oligoarthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85408","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormality of the wrist, the structure connecting the hand and the forearm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003019","HPO_Synonym__c":"Abnormalities of the wrists; Abnormality of the wrist","HPO_Name__c":"Abnormality of the wrist","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001832","HPO_Synonym__c":"Abnormality of the long bone of foot","HPO_Name__c":"Abnormal metatarsal morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003043","HPO_Synonym__c":"Abnormality of the shoulder","HPO_Name__c":"Abnormal shoulder morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pain in muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003326","HPO_Synonym__c":"Muscle ache; Muscle pain","HPO_Name__c":"Myalgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85408","HPO_Frequency__c":"Occasional (5-29%)","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:85408","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001387","HPO_Synonym__c":"Joint stiffness; Stiff joint; Stiff joints","HPO_Name__c":"Joint stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85408","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100686","HPO_Synonym__c":"Inflammation of sharpey fibers","HPO_Name__c":"Enthesitis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of one or all portions of the uveal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000554","HPO_Name__c":"Uveitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85408","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Joint pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002829","HPO_Synonym__c":"Arthralgias; Joint pain","HPO_Name__c":"Arthralgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008843","HPO_Synonym__c":"Osteoarthritis of hip","HPO_Name__c":"Hip osteoarthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85408","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005086","HPO_Name__c":"Knee osteoarthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality affecting one or both hands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001155","HPO_Synonym__c":"Abnormal hands; Abnormality of the hand; Hand anomalies; Hand deformities","HPO_Name__c":"Abnormality of the hand","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85408","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased erythrocyte sedimentation rate (ESR). 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"}},{"Provided_By__c":"ORPHA:85408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001530","HPO_Synonym__c":"Postnatal onset of mild growth retardation","HPO_Name__c":"Mild postnatal growth retardation","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Pulmonology"],"Specialist":["Pulmonology","Ophthalmology","Rheumatology","Pediatrics"]},"synonyms":["juvenile chronic arthritis, polyarticular seronegative"," juvenile idiopathic arthritis, polyarthritis, rheumatoid factor negative"," juvenile polyarthritis without rheumatoid factor"," juvenile rheumatoid factor-negative polyarthritis"," juvenile seronegative polyarthritis"," polyarthritis without rheumatoid factor"," rheumatoid factor-negative jia"," rheumatoid factor-negative polyarticular jia"," rheumatoid factor-negative polyarticular juvenile idiopathic arthritis"]}