Mondo Disease Ontology / Mondo疾病本体

Last uploaded: August 7, 2023
Preferred Name

hereditary hemorrhagic telangiectasia

Synonyms

HHT

telangiectasia, hereditary hemorrhagic

Rendu-Osler disease

Osler hemorrhagic telangiectasia syndrome

Osler-Weber-Rendu disease

Rendu-Osler-Weber disease

hereditary hemorrhagic telangiectasia

telangiectasia, hereditary Hemorrahagic, of Rendu, Osler

Definitions

A disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting.

ID

http://purl.obolibrary.org/obo/MONDO_0019180

closeMatch

http://identifiers.org/meddra/10019883

database_cross_reference

GARD:0006626

SCTID:21877004

DOID:1270

NCIT:C35064

ICD9:448.0

MESH:D013683

OMIMPS:187300

UMLS:C0039445

Orphanet:774

ICD10CM:I78.0

MedDRA:10019883

definition

A disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting.

exactMatch

https://omim.org/phenotypicSeries/PS187300

http://purl.bioontology.org/ontology/ICD10CM/I78.0

http://identifiers.org/snomedct/21877004

http://purl.obolibrary.org/obo/DOID_1270

http://purl.obolibrary.org/obo/Orphanet_774

http://purl.obolibrary.org/obo/NCIT_C35064

http://identifiers.org/mesh/D013683

http://linkedlifedata.com/resource/umls/id/C0039445

has_exact_synonym

HHT

telangiectasia, hereditary hemorrhagic

Rendu-Osler disease

Osler hemorrhagic telangiectasia syndrome

Osler-Weber-Rendu disease

Rendu-Osler-Weber disease

hereditary hemorrhagic telangiectasia

telangiectasia, hereditary Hemorrahagic, of Rendu, Osler

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/5682

id

MONDO:0019180

in_subset

http://purl.obolibrary.org/obo/mondo#ordo_disease

label

hereditary hemorrhagic telangiectasia

notation

MONDO:0019180

prefLabel

hereditary hemorrhagic telangiectasia

treeView

http://purl.obolibrary.org/obo/MONDO_0015145

http://purl.obolibrary.org/obo/MONDO_0016231

http://purl.obolibrary.org/obo/MONDO_0000426

http://purl.obolibrary.org/obo/MONDO_0001576

http://purl.obolibrary.org/obo/MONDO_0016229

http://purl.obolibrary.org/obo/MONDO_0019755

http://purl.obolibrary.org/obo/MONDO_0043218

subClassOf

http://purl.obolibrary.org/obo/MONDO_0015145

http://purl.obolibrary.org/obo/MONDO_0016231

http://purl.obolibrary.org/obo/MONDO_0000426

http://purl.obolibrary.org/obo/MONDO_0001576

http://purl.obolibrary.org/obo/MONDO_0016229

http://purl.obolibrary.org/obo/MONDO_0019755

http://purl.obolibrary.org/obo/MONDO_0043218

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019293

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