{"Name":"Hereditary hemorrhagic telangiectasia type 3","DiseaseID__c":"GARD:0009902","id":9902,"encodedName":"hereditary-hemorrhagic-telangiectasia-type-3","IsDeleted":false,"Disease_Name_Full__c":"Hereditary hemorrhagic telangiectasia type 3","Xref_IDs__c":"C1832774; C537140; MEDGEN:371403; MONDO:0010996","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"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":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:601101","Disease_Description__c":"For a general phenotypic description and a discussion of genetic heterogeneity of HHT, see {187300}.","GARD_Name__c":"Hereditary hemorrhagic telangiectasia type 3","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"OMIM:187300","Curated_Disease_Description__c":"Hereditary hemorrhagic telangiectasia type 3 (HHT3) is an autosomal dominant vascular dysplasia leading to telangiectases and arteriovenous malformations of skin, mucosa, and viscera. Epistaxis and gastrointestinal bleeding are frequent complications of mucosal involvement. Visceral involvement includes that of the lung, liver, and brain. HHT3 is mapped to a mutation on chromosome 5q31","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:601101","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010996","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":"Hereditary hemorrhagic telangiectasia type 3 (HHT3) is an autosomal dominant vascular dysplasia leading to telangiectases and arteriovenous malformations of skin, mucosa, and viscera. Epistaxis and gastrointestinal bleeding are frequent complications of mucosal involvement. Visceral involvement includes that of the lung, liver, and brain. HHT3 is mapped to a mutation on chromosome 5q31","Curated_Disease_Description_Source__c":"OMIM:187300","Name":"Hereditary hemorrhagic telangiectasia type 3","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The Aneurysm and AVM Foundation","Website__c":"https://taafonline.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009902","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1351","Source__c":"Gene Review","Xref__c":"NBK1351"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832774","Source__c":"C1832774","Xref__c":"C1832774"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537140","Source__c":"MONDO:0010996","Xref__c":"C537140"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=371403","Source__c":"C1832774","Xref__c":"MEDGEN:371403"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010996","Source__c":"GARD:0009902","Xref__c":"MONDO:0010996"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Specialist":["Vascular Medicine"]},"synonyms":[""]}