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Online Mendelian Inheritance in Man
Last uploaded:
August 28, 2024
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| Preferred Name | VON WILLEBRAND DISEASE, PLATELET-TYPE | |
| Synonyms |
PSEUDO-VON WILLEBRAND DISEASE VWDP BDPLT3 BLEEDING DISORDER, PLATELET-TYPE, 3 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/177820 |
|
| altLabel |
PSEUDO-VON WILLEBRAND DISEASE VWDP BDPLT3 BLEEDING DISORDER, PLATELET-TYPE, 3
|
|
| cui |
C1280798
|
|
| Gene Locus |
17pter-p12
|
|
| Gene Symbol |
BDPLT1 BDPLT3 GP1BA VWDP BSS
|
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU006827 http://purl.bioontology.org/ontology/OMIM/MTHU023924 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known.
|
|
| notation |
177820
|
|
| OMIM Entry Type |
3
|
|
| OMIM MimType Value |
pound
|
|
| prefLabel |
VON WILLEBRAND DISEASE, PLATELET-TYPE
|
|
| Scope Statement |
Allelic to Giant Platelet Syndrome (231200) and Bernard-Soulier Syndrome, benign, autosomal dominant (153670) [MISCELLANEOUS] Caused by mutation in glycoprotein 1b, platelet, alpha polypeptide (GP1BA, 606672.0003) [MOLECULAR BASIS]
|
|
| tui |
T047
|
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