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Online Mendelian Inheritance in Man
Last uploaded:
August 28, 2024
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| Preferred Name | VON WILLEBRAND DISEASE, TYPE 1 | |
| Synonyms |
VWD, TYPE 1 VON WILLEBRAND DISEASE, TYPE I VWD1 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/193400 |
|
| altLabel |
VWD, TYPE 1 VON WILLEBRAND DISEASE, TYPE I VWD1
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|
| cui |
C1264039
|
|
| Gene Locus |
12p13.3
|
|
| Gene Symbol |
VWF F8VWF
|
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU009110 http://purl.bioontology.org/ontology/OMIM/MTHU000449 http://purl.bioontology.org/ontology/OMIM/MTHU027552 http://purl.bioontology.org/ontology/OMIM/MTHU027553 http://purl.bioontology.org/ontology/OMIM/MTHU027549 http://purl.bioontology.org/ontology/OMIM/MTHU027551 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known.
|
|
| notation |
193400
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|
| OMIM Entry Type |
3
|
|
| OMIM MimType Value |
pound
|
|
| prefLabel |
VON WILLEBRAND DISEASE, TYPE 1
|
|
| Scope Statement |
Caused by mutation in the von Willebrand factor gene (VWF, 613160.0028) [MOLECULAR BASIS] Most common inherited bleeding disorder [MISCELLANEOUS] Variably expressivity [MISCELLANEOUS] Incomplete penetrance [MISCELLANEOUS] Highly variable phenotype [MISCELLANEOUS]
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|
| tui |
T047
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