{"_id":"MONDO:0019180","_version":1,"ctd":{"chemical_related_to_disease":[{"cas_registry_number":"50-78-2","chemical_name":"Aspirin","direct_evidence":"marker/mechanism","mesh_chemical_id":"D001241","pubmed":"1251813","source":"CTD"},{"cas_registry_number":"64-17-5","chemical_name":"Ethanol","direct_evidence":"marker/mechanism","mesh_chemical_id":"D000431","pubmed":"1251813","source":"CTD"}],"mesh":"D013683"},"disease_ontology":{"_license":"https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt","ancestors":["DOID:0050736","DOID:0050177","DOID:630","DOID:4","DOID:1287","DOID:7","DOID:178","DOID:0050739"],"children":[],"def":"\"A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins.\" [url:http\\://en.wikipedia.org/wiki/Hereditary_hemorrhagic_telangiectasia, url:http\\://ghr.nlm.nih.gov/condition/hereditary-hemorrhagic-telangiectasia, url:http\\://www.ncbi.nlm.nih.gov/books/NBK1351/]","descendants":[],"doid":"DOID:1270","name":"hereditary hemorrhagic telangiectasia","parents":["DOID:0050736","DOID:178"],"synonyms":{"exact":["Osler hemorrhagic telangiectasia syndrome","Osler-Weber-Rendu disease","Rendu-Osler-Weber disease"]},"xrefs":{"gard":"6626","icd10":"I78.0","icd9":"448.0","mesh":"D013683","mim":["187300","600376","615506"],"ncit":"C35064","ordo":"774","snomedct_us_2025_09_01":"266324004","umls_cui":"C0039445"}},"hpo":{"disease_name":"Hereditary hemorrhagic telangiectasia","orphanet":"774","phenotype_related_to_disease":[{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000214","orphanet_refs":"orphanet:774"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000227","orphanet_refs":"orphanet:774"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000421","orphanet_refs":"orphanet:774"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000434","orphanet_refs":"orphanet:774"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001009","orphanet_refs":"orphanet:774"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0004406","orphanet_refs":"orphanet:774"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0100579","orphanet_refs":"orphanet:774"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0100585","orphanet_refs":"orphanet:774"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001409","orphanet_refs":"orphanet:774"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001903","orphanet_refs":"orphanet:774"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002076","orphanet_refs":"orphanet:774"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0006548","orphanet_refs":"orphanet:774"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0006574","orphanet_refs":"orphanet:774"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0011025","orphanet_refs":"orphanet:774"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0100026","orphanet_refs":"orphanet:774"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0100761","orphanet_refs":"orphanet:774"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000524","orphanet_refs":"orphanet:774"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001250","orphanet_refs":"orphanet:774"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001342","orphanet_refs":"orphanet:774"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001394","orphanet_refs":"orphanet:774"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001399","orphanet_refs":"orphanet:774"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001635","orphanet_refs":"orphanet:774"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002040","orphanet_refs":"orphanet:774"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002092","orphanet_refs":"orphanet:774"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002105","orphanet_refs":"orphanet:774"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002138","orphanet_refs":"orphanet:774"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002204","orphanet_refs":"orphanet:774"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002239","orphanet_refs":"orphanet:774"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002326","orphanet_refs":"orphanet:774"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002408","orphanet_refs":"orphanet:774"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002629","orphanet_refs":"orphanet:774"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0004936","orphanet_refs":"orphanet:774"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0007763","orphanet_refs":"orphanet:774"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0100659","orphanet_refs":"orphanet:774"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0100784","orphanet_refs":"orphanet:774"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0200008","orphanet_refs":"orphanet:774"}]},"mondo":{"ancestors":["MONDO:7770009","MONDO:0000001","MONDO:0005385","MONDO:0004995","MONDO:7770007","MONDO:0021147","MONDO:0021658","MONDO:0016231","MONDO:7770008","MONDO:0019755","MONDO:0000429","MONDO:0001576","MONDO:0000426","MONDO:7770006","MONDO:0700096","MONDO:0003847","MONDO:0005294"],"children":["MONDO:0008535","MONDO:0010880","MONDO:0010996","MONDO:0012532","MONDO:0014217"],"definition":"A disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting. [Orphanet:774]","descendants":["MONDO:0014217","MONDO:0010880","MONDO:0008535","MONDO:0012532","MONDO:0010996"],"excluded_subClassOf":{"mondo":["MONDO:0019293"]},"label":"hereditary hemorrhagic telangiectasia","mondo":"MONDO:0019180","parents":["MONDO:0000426","MONDO:0001576","MONDO:0016231","MONDO:0019755"],"should_conform_to":{"http":["http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml"]},"synonym":{"exact":["hereditary hemorrhagic telangiectasia","HHT","Osler-Weber-Rendu disease","Rendu-Osler disease","Rendu-Osler-Weber disease","telangiectasia, hereditary Hemorrahagic, of Rendu, Osler","telangiectasia, hereditary hemorrhagic"]},"xrefs":{"doid":["DOID:1270"],"gard":["0006626"],"icd10cm":["I78.0"],"icd11":["foundation:714406192"],"icd9":["448.0"],"meddra":["10019883"],"medgen":["52657"],"mesh":["D013683"],"nando":["2201034","1200744","2100296"],"ncit":["C35064"],"nord":["1229"],"omimps":["187300"],"orphanet":["774"],"sctid":["21877004"],"umls":["C0039445"]}},"original_id":"orphanet:774","umls":{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","icd10":{"preferred":"I78.0"},"icd10am":{"preferred":"I78.0"},"icd10cm":{"non-preferred":"I78.0","preferred":"I78.0"},"icd9cm":{"non-preferred":"448.0","preferred":"448.0"},"mesh":{"non-preferred":"D013683","preferred":"D013683"},"nci":{"non-preferred":"C35064","preferred":"C35064"},"snomed":{"non-preferred":"21877004","preferred":["155449008","21877004","266324004"]},"umls":"C0039445"}}