{"Name":"Erythema elevatum diutinum","DiseaseID__c":"GARD:0008653","id":8653,"encodedName":"erythema-elevatum-diutinum","IsDeleted":false,"Disease_Name_Full__c":"Erythema elevatum diutinum","Xref_IDs__c":"58872001; C0263398; C535509; DOID:0060567; L95.1; MEDGEN:75517; MONDO:0019526; ORPHA:90000","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019526","Disease_Description__c":"Erythema elevatum diutinum (EED) is a distinctive form of chronic cutaneous vasculitis, belonging to the group of the neutrophilic dermatoses.","GARD_Name__c":"Erythema elevatum diutinum","GARD_Synonym__c":"eed - erythema elevatum diutinum","Curated_Disease_Description_Source__c":"GARD:0008653","Curated_Disease_Description__c":"Erythema elevatum diutinum (EED) is a disorder of the skin associated with small blood vessel inflammation (vasculitis). Symptoms include red, purple, brown or yellow bumps of different sizes that grow on or just below the skin. These growths are located mainly on the elbows, knees, ankles, hands, and fingers. People with EED may also have joint pain, but few other symptoms. The cause of EED is unknown. Diagnosis is made based on the symptoms and a skin biopsy to look at the skin growths.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:90000","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019526","ORPHANET_ID__c":"ORPHA:90000","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Eritema elevatum diutinum","Spanish_Description_Source__c":"ORPHA:90000","Spanish_Description__c":"Es una forma distintiva de vasculitis cutánea crónica perteneciente al grupo de las dermatosis neutrofílicas.","Spanish_Disease_Name__c":"eritema elevatum diutinum","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:89826","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":"Erythema elevatum diutinum (EED) is a disorder of the skin associated with small blood vessel inflammation (vasculitis). Symptoms include red, purple, brown or yellow bumps of different sizes that grow on or just below the skin. These growths are located mainly on the elbows, knees, ankles, hands, and fingers. People with EED may also have joint pain, but few other symptoms. The cause of EED is unknown. Diagnosis is made based on the symptoms and a skin biopsy to look at the skin growths.","Curated_Disease_Description_Source__c":"GARD:0008653","GARD_Synonym__c":"eed - erythema elevatum diutinum","Name":"Erythema elevatum diutinum","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Vasculitis Foundation","Website__c":"https://www.vasculitisfoundation.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:90000"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/90000","Source__c":"C0263398; MONDO:0019526; ORPHA:90000","Xref__c":"ORPHA:90000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75517","Source__c":"C0263398","Xref__c":"MEDGEN:75517"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060567","Source__c":"MONDO:0019526","Xref__c":"DOID:0060567"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=58872001","Source__c":"C0263398; MONDO:0019526","Xref__c":"58872001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0263398","Source__c":"C0263398","Xref__c":"C0263398"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/L95.1","Source__c":"MONDO:0019526","Xref__c":"L95.1"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535509","Source__c":"MONDO:0019526","Xref__c":"C535509"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019526","Source__c":"GARD:0008653","Xref__c":"MONDO:0019526"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:90000","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:90000","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:90000","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008066","HPO_Synonym__c":"Abnormal blistering of the skin; Blister; Blistering, generalized; Blisters; Skin bullae","HPO_Name__c":"Abnormal blistering of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90000","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased level of gamma globulin (immunoglobulin) in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010702","HPO_Synonym__c":"Elevated immunoglobulin levels; Hypergammaglobulinaemia; Hypergammaglobulinemia; Increased antibody level in blood; Increased circulating antibody concentration; Increased circulating antibody level; Increased gamma globulin; Increased immunoglobulin level; Increased serum gamma globulin; Raised immunoglobulin levels","HPO_Name__c":"Increased circulating immunoglobulin concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90000","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; Joint pain","HPO_Name__c":"Arthralgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of vasculitis (inflammation of blood vessel walls) that affects skeletal muscle tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200029","HPO_Synonym__c":"Cutaneous vasculitis","HPO_Name__c":"Vasculitis in the skin","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90000","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A circumscribed, fluid-containing, epidermal elevation less than 10mm in diameter at the widest point that (i) Contain serous exudates or serum mixed with blood or pus; (ii) Are discrete, grouped, irregularly distributed, or linear as in Rhus dermatitis; (iii) Are short-lived. Vesicles may break spontaneously or evolve into bullae by enlarging or coalescing with other vesicles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200037","HPO_Name__c":"Skin vesicle","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90000","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200036","HPO_Synonym__c":"Growth of abnormal tissue on or under the skin","HPO_Name__c":"Skin nodule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Rheumatology","Dermatology","Vascular Medicine","Pediatrics"],"Account":["Dermatology"],"Disease Category":["Dermatology"]},"synonyms":["eed - erythema elevatum diutinum"]}