{"Name":"Multicentric reticulohistiocytosis","DiseaseID__c":"GARD:0007103","id":7103,"encodedName":"multicentric-reticulohistiocytosis","IsDeleted":false,"Disease_Name_Full__c":"Multicentric reticulohistiocytosis","Xref_IDs__c":"84241008; C0311284; C27896; DOID:11824; E78.81; MEDGEN:86315; MONDO:0015347; ORPHA:139436","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015347","Disease_Description__c":"A rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis.","GARD_Name__c":"Multicentric reticulohistiocytosis","GARD_Synonym__c":"giant cell histiocytomatosis; lipoid dermatoarthritis; nicolau-balus syndrome","Curated_Disease_Description_Source__c":"GARD:0007103","Curated_Disease_Description__c":"Multicentric reticulohistiocytosis is a disease that is characterized by the presence of papules and nodules and associated with arthritis mutilans. The disease can involve the skin, the bones, the tendons, the muscles, the joints, and nearly any other organ (e.g., eyes, larynx, thyroid, salivary glands, bone marrow, heart, lung, kidney, liver, gastrointestinal tract). In the majority of cases, the cause of Multicentric reticulohistiocytosis is unknown; however, it has been associated with an underlying cancer in about one fourth of cases, suggesting that it may be a paraneoplastic syndrome.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:139436","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015347","ORPHANET_ID__c":"ORPHA:139436","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Reticulohistiocitosis multicéntrica","Spanish_Description_Source__c":"ORPHA:139436","Spanish_Description__c":"Es una histiocitosis poco frecuente de células no-Langerhans caracterizada por la asociación de lesiones cutáneas nodulares específicas y artritis destructiva.","Spanish_Disease_Name__c":"reticulohistiocitosis multicéntrica","Spanish_GARD_Synonym__c":"dermoartritis lipoidea","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":"Multicentric reticulohistiocytosis is a disease that is characterized by the presence of papules and nodules and associated with arthritis mutilans. The disease can involve the skin, the bones, the tendons, the muscles, the joints, and nearly any other organ (e.g., eyes, larynx, thyroid, salivary glands, bone marrow, heart, lung, kidney, liver, gastrointestinal tract). In the majority of cases, the cause of Multicentric reticulohistiocytosis is unknown; however, it has been associated with an underlying cancer in about one fourth of cases, suggesting that it may be a paraneoplastic syndrome.","Curated_Disease_Description_Source__c":"GARD:0007103","GARD_Synonym__c":"giant cell histiocytomatosis; lipoid dermatoarthritis; nicolau-balus syndrome","Name":"Multicentric reticulohistiocytosis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Histiocytosis Association","Website__c":"https://www.histio.org/"},{"Account_Name__c":"Histiocytosis Association of Canada","Website__c":"https://histiocytosis.ca/"},{"Account_Name__c":"Arthritis Foundation","Website__c":"https://www.arthritis.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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:139436"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A11824","Source__c":"MONDO:0015347","Xref__c":"DOID:11824"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=86315","Source__c":"C0311284","Xref__c":"MEDGEN:86315"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=84241008","Source__c":"C0311284; MONDO:0015347","Xref__c":"84241008"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C27896","Source__c":"C0311284; MONDO:0015347","Xref__c":"C27896"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0311284","Source__c":"C0311284","Xref__c":"C0311284"},{"URL__c":"https://www.orpha.net/en/disease/detail/139436","Source__c":"C0311284; MONDO:0015347; ORPHA:139436","Xref__c":"ORPHA:139436"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015347","Source__c":"GARD:0007103","Xref__c":"MONDO:0015347"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/E78.81","Source__c":"MONDO:0015347","Xref__c":"E78.81"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:139436","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An excessive number of histiocytes (tissue macrophages).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100727","HPO_Name__c":"Histiocytosis","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139436","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139436","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139436","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004326","HPO_Synonym__c":"Wasting syndrome","HPO_Name__c":"Cachexia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139436","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:139436","HPO_Frequency__c":"Very frequent (80-99%)","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"],"Account":["Dermatology"],"Disease Category":["Dermatology"]},"synonyms":["giant cell histiocytomatosis"," lipoid dermatoarthritis"," nicolau-balus syndrome"]}