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Online Mendelian Inheritance in Man
Last uploaded:
August 28, 2024
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| Preferred Name | VON WILLEBRAND DISEASE, TYPE 3 | |
| Synonyms |
VWD3 VWD, TYPE 3 VON WILLEBRAND DISEASE, TYPE III |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/277480 |
|
| altLabel |
VWD3 VWD, TYPE 3 VON WILLEBRAND DISEASE, TYPE III
|
|
| cui |
C1264041
|
|
| Gene Locus |
12p13.3
|
|
| Gene Symbol |
VWF F8VWF
|
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU037998 http://purl.bioontology.org/ontology/OMIM/MTHU009110 http://purl.bioontology.org/ontology/OMIM/MTHU000436 http://purl.bioontology.org/ontology/OMIM/MTHU037997 http://purl.bioontology.org/ontology/OMIM/MTHU027553 http://purl.bioontology.org/ontology/OMIM/MTHU006269 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known.
|
|
| notation |
277480
|
|
| OMIM Entry Type |
3
|
|
| OMIM MimType Value |
pound
|
|
| prefLabel |
VON WILLEBRAND DISEASE, TYPE 3
|
|
| Scope Statement |
Most severe type of von Willebrand disease [MISCELLANEOUS] Caused by mutation in the von Willebrand factor gene (VWF, 613160.0015) [MOLECULAR BASIS]
|
|
| tui |
T047
|
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