ZFIN Human Disease: hereditary hemorrhagic telangiectasia

OBO ID: DOID:1270

Term Name:	hereditary hemorrhagic telangiectasia		Search Ontology:
Synonyms:	Osler hemorrhagic telangiectasia syndrome Osler-Weber-Rendu disease Rendu-Osler-Weber disease
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. (3)
References:	GARD:6626 ICD10CM:I78.0 ICD9CM:448.0 MESH:D013683 NCI:C35064 OMIM:187300 OMIM:600376 OMIM:601101 OMIM:615506 ORDO:774 SNOMEDCT_US_2023_03_01:266324004 UMLS_CUI:C0039445
Ontology:	Human Disease ( DOID:1270 )

Relationships

is a type of:	autosomal dominant disease vascular disease autosomal dominant disease vascular disease Show first 5 Terms

OTHER hereditary hemorrhagic telangiectasia PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ACVRL1	acvrl1	Telangiectasia, hereditary hemorrhagic, type 2	600376
ENG	eng	Telangiectasia, hereditary hemorrhagic, type 1	187300
GDF2	gdf2	Telangiectasia, hereditary hemorrhagic, type 5	615506

ZEBRAFISH MODELS

Fish	Conditions	Citations
WT + MO1-eng	standard conditions	Wang et al., 2020
bmp10^pt527/pt527; pt505Tg; twu34Tg	control	Capasso et al., 2019

PHENOTYPE No data available

CITATIONS (6)