{"Name":"Intermittent hydrarthrosis","DiseaseID__c":"GARD:0021499","id":21499,"encodedName":"intermittent-hydrarthrosis","IsDeleted":false,"Disease_Name_Full__c":"Intermittent hydrarthrosis","Xref_IDs__c":"711286009; C0149910; M12.4; MEDGEN:508453; MONDO:0018015; ORPHA:329967","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:329967","Disease_Description__c":"A rare rheumatologic disease characterized by recurrent self-remitting episodes of acute monoarticular arthritis, often with a fixed periodicity, typically affecting the knee or another large joint, which develops an effusion over 12 to 24 hours with only mild to moderate pain and minimal signs of inflammation. Attacks last three to five days and may parallel menses in females. Systemic symptoms are absent, and no joint damage occurs.","GARD_Name__c":"Intermittent hydrarthrosis","GARD_Synonym__c":"intermittent effusion of joint","Curated_Disease_Description_Source__c":"ORPHA:329967","Curated_Disease_Description__c":"A rare rheumatologic disease characterized by recurrent self-remitting episodes of acute monoarticular arthritis, often with a fixed periodicity, typically affecting the knee or another large joint, which develops an effusion over 12 to 24 hours with only mild to moderate pain and minimal signs of inflammation. Attacks last three to five days and may parallel menses in females. Systemic symptoms are absent, and no joint damage occurs.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:329967","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018015","ORPHANET_ID__c":"ORPHA:329967","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hidrartrosis intermitente","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hidrartrosis intermitente","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":"A rare rheumatologic disease characterized by recurrent self-remitting episodes of acute monoarticular arthritis, often with a fixed periodicity, typically affecting the knee or another large joint, which develops an effusion over 12 to 24 hours with only mild to moderate pain and minimal signs of inflammation. Attacks last three to five days and may parallel menses in females. Systemic symptoms are absent, and no joint damage occurs.","Curated_Disease_Description_Source__c":"ORPHA:329967","GARD_Synonym__c":"intermittent effusion of joint","Name":"Intermittent hydrarthrosis","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:329967"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=508453","Source__c":"C0149910","Xref__c":"MEDGEN:508453"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=711286009","Source__c":"C0149910; MONDO:0018015","Xref__c":"711286009"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/M12.4","Source__c":"MONDO:0018015","Xref__c":"M12.4"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0149910","Source__c":"C0149910","Xref__c":"C0149910"},{"URL__c":"https://www.orpha.net/en/disease/detail/329967","Source__c":"C0149910; MONDO:0018015; ORPHA:329967","Xref__c":"ORPHA:329967"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018015","Source__c":"GARD:0021499","Xref__c":"MONDO:0018015"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:329967","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the knee joint or surrounding structures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002815","HPO_Synonym__c":"Abnormality of the knee","HPO_Name__c":"Abnormality of the knee","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329967","HPO_Frequency__c":"Occasional (5-29%)","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:329967","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) .","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000934","HPO_Synonym__c":"Calcium deposits in joints","HPO_Name__c":"Chondrocalcinosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329967","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045086","HPO_Synonym__c":"Knee joint over-flexibility","HPO_Name__c":"Knee joint hypermobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329967","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Rheumatology"]},"synonyms":["intermittent effusion of joint"]}