loading...| Preferred Name |
hereditary hemorrhagic telangiectasia |
| Synonyms |
Osler hemorrhagic telangiectasia syndrome |
| Definitions |
Xref MGI. OMIM mapping confirmed by DO. [SN]. A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins. |
| ID |
http://purl.obolibrary.org/obo/DOID_1270 |
| comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
OMIM:600376 MESH:D013683 OMIM:615506 NCI:C35064 OMIM:187300 GARD:6626 ORDO:774 ICD10CM:I78.0 ICD9CM:448.0 SNOMEDCT_US_2020_03_01:266324004 OMIM:601101 UMLS_CUI:C0039445 |
| has exact synonym |
Osler hemorrhagic telangiectasia syndrome Rendu-Osler-Weber disease Osler-Weber-Rendu disease |
| id |
DOID:1270 |
| in_subset | |
| label |
hereditary hemorrhagic telangiectasia |
| notation |
DOID:1270 |
| prefLabel |
hereditary hemorrhagic telangiectasia |
| textual definition |
A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins. |
| 引自 | |
| 有_obo_命名空间 |
disease_ontology |
| subClassOf |