Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615506 http://purl.bioontology.org/ontology/OMIM/615506
Preferred Name	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5
Synonyms	HHT5
Type	http://www.w3.org/2002/07/owl#Class

altLabel	HHT5
prefLabel	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5
Gene Symbol	BMP9 HHT5 GDF2
Scope Statement	Intrafamilial phenotypic variability [MISCELLANEOUS] Incidence of 1 in 5,000-8,000 [MISCELLANEOUS] Caused by mutation in the gene encoding growth/differentiation factor-2 (GDF2, 605120.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU044416 http://purl.bioontology.org/ontology/OMIM/MTHU044412 http://purl.bioontology.org/ontology/OMIM/MTHU012520 http://purl.bioontology.org/ontology/OMIM/MTHU079053 http://purl.bioontology.org/ontology/OMIM/MTHU069705 http://purl.bioontology.org/ontology/OMIM/MTHU024633 http://purl.bioontology.org/ontology/OMIM/MTHU037338 http://purl.bioontology.org/ontology/OMIM/MTHU008711 http://purl.bioontology.org/ontology/OMIM/MTHU079052 http://purl.bioontology.org/ontology/OMIM/MTHU069704 http://purl.bioontology.org/ontology/OMIM/MTHU044417 See more See less
tui	T047
Gene Locus	10q11.22
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615506
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C3809710
OMIM Entry Type	3
OMIM MimType Value	pound

Delete	Subject	Author	Type	Created
No notes to display