Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620715 http://purl.bioontology.org/ontology/OMIM/620715
Preferred Name	BLEEDING DISORDER, VASCULAR-TYPE
Synonyms	BDVAS
Type	http://www.w3.org/2002/07/owl#Class

altLabel	BDVAS
prefLabel	BLEEDING DISORDER, VASCULAR-TYPE
Gene Symbol	APOLD1 VERGE BDVAS
Scope Statement	Bleeding symptoms tend to alleviate by middle age [MISCELLANEOUS] One French family has been reported (last curated February 2024) [MISCELLANEOUS] Bleeding can be exacerbated with vasodilator medication [MISCELLANEOUS] Caused by mutation in the apolipoprotein L domain-containing 1 gene (APOLD1, 612456.0001) [MOLECULAR BASIS] Onset in childhood [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU009110 http://purl.bioontology.org/ontology/OMIM/MTHU078474 http://purl.bioontology.org/ontology/OMIM/MTHU078473 http://purl.bioontology.org/ontology/OMIM/MTHU078472 http://purl.bioontology.org/ontology/OMIM/MTHU025938 http://purl.bioontology.org/ontology/OMIM/MTHU006261 http://purl.bioontology.org/ontology/OMIM/MTHU043645 http://purl.bioontology.org/ontology/OMIM/MTHU037874 http://purl.bioontology.org/ontology/OMIM/MTHU025933 http://purl.bioontology.org/ontology/OMIM/MTHU078475 http://purl.bioontology.org/ontology/OMIM/MTHU036809 See more See less
tui	T047
Gene Locus	12p13.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620715
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5935577
OMIM Entry Type	3
OMIM MimType Value	pound

Delete	Subject	Author	Type	Created
No notes to display