Preferred Name |
VON WILLEBRAND DISEASE, TYPE 3 |
Synonyms |
VWD, TYPE 3 |
ID |
http://purl.bioontology.org/ontology/OMIM/277480 |
altLabel |
VWD, TYPE 3 VWD3 VON WILLEBRAND DISEASE, TYPE III |
cui |
C1264041 |
Gene Locus |
12p13.3 |
Gene Symbol |
VWF F8VWF |
Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU037997 http://purl.bioontology.org/ontology/OMIM/MTHU042196 http://purl.bioontology.org/ontology/OMIM/MTHU036809 http://purl.bioontology.org/ontology/OMIM/MTHU009110 http://purl.bioontology.org/ontology/OMIM/MTHU027553 http://purl.bioontology.org/ontology/OMIM/MTHU037998 |
MIMTYPEMEANING |
Phenotype description, molecular basis known. |
notation |
277480 |
OMIM Entry Type |
3 |
OMIM MimType Value |
pound |
prefLabel |
VON WILLEBRAND DISEASE, TYPE 3 |
Scope Statement |
Caused by mutation in the von Willebrand factor gene (VWF, 613160.0015) [MOLECULAR BASIS] Most severe type of von Willebrand disease [MISCELLANEOUS] |
tui |
T047 |