{"Name":"Multifocal fibrosclerosis","DiseaseID__c":"GARD:0005697","id":5697,"encodedName":"multifocal-fibrosclerosis","IsDeleted":false,"Disease_Name_Full__c":"Multifocal fibrosclerosis","Xref_IDs__c":"111210001; C0494949; C197936; C537375; M35.5; MEDGEN:105414; MONDO:0009230; OMIM:228800","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":1,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:228800","Disease_Description__c":"{1:Comings et al. (1967)} reported 2 brothers, offspring of a first-cousin marriage, who had different combinations of retroperitoneal fibrosis, mediastinal fibrosis, sclerosing cholangitis, Riedel sclerosing thyroiditis, and pseudotumor of the orbit. One of the brothers had fibrotic contracture of the fingers. {2:Goldbach et al. (1983)} reported mediastinal and retroperitoneal fibrosis in 2 sisters with seronegative spondylarthropathy. Neither was HLA-B27-positive. {3:Phills et al. (1973)} reported retroperitoneal fibrosis in 3 sibs. {4:Zabetakis et al. (1979)} raised the possibility that retroperitoneal fibrosis is a manifestation of a collagen vascular disease.","GARD_Name__c":"Multifocal fibrosclerosis","GARD_Synonym__c":"fibrosclerosis, multifocal; mediastinal fibrosis, familial; retroperitoneal fibrosis, familial","Curated_Disease_Description_Source__c":"OMIM:228800","Curated_Disease_Description__c":"Multifocal fibrosclerosis may cause different combinations of retroperitoneal fibrosis, mediastinal fibrosis, sclerosing cholangitis, Riedel sclerosing thyroiditis, and pseudotumor of the orbit. Some people with this condition may have fibrotic contracture of the fingers. Symptoms may also include seronegative spondylarthropathy and camptodactyly. This condition appears to follow an autosomal recessive pattern of inheritance.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:228800","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009230","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Multifocal fibrosclerosis may cause different combinations of retroperitoneal fibrosis, mediastinal fibrosis, sclerosing cholangitis, Riedel sclerosing thyroiditis, and pseudotumor of the orbit. Some people with this condition may have fibrotic contracture of the fingers. Symptoms may also include seronegative spondylarthropathy and camptodactyly. This condition appears to follow an autosomal recessive pattern of inheritance.","Curated_Disease_Description_Source__c":"OMIM:228800","GARD_Synonym__c":"fibrosclerosis, multifocal; mediastinal fibrosis, familial; retroperitoneal fibrosis, familial","Name":"Multifocal fibrosclerosis","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=105414","Source__c":"C0494949","Xref__c":"MEDGEN:105414"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0494949","Source__c":"C0494949","Xref__c":"C0494949"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/M35.5","Source__c":"MONDO:0009230","Xref__c":"M35.5"},{"URL__c":"https://www.omim.org/entry/228800","Source__c":"C0494949; MONDO:0009230","Xref__c":"OMIM:228800"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=111210001","Source__c":"C0494949; MONDO:0009230","Xref__c":"111210001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537375","Source__c":"MONDO:0009230","Xref__c":"C537375"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C197936","Source__c":"C0494949","Xref__c":"C197936"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009230","Source__c":"GARD:0005697","Xref__c":"MONDO:0009230"}],"tags":{},"synonyms":["fibrosclerosis, multifocal"," mediastinal fibrosis, familial"," retroperitoneal fibrosis, familial"]}