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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/614200
http://purl.bioontology.org/ontology/OMIM/614200
|
|---|---|
| Preferred Name | BLEEDING DISORDER, PLATELET-TYPE, 9 |
| Synonyms |
BDPLT9
COLLAGEN PLATELET RECEPTOR DEFICIENCY
GLYCOPROTEIN Ia DEFICIENCY
GP Ia DEFICIENCY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
BDPLT9
COLLAGEN PLATELET RECEPTOR DEFICIENCY
GLYCOPROTEIN Ia DEFICIENCY
GP Ia DEFICIENCY
|
|---|---|
| prefLabel | BLEEDING DISORDER, PLATELET-TYPE, 9
|
| Gene Symbol | BDPLT9
|
| Scope Statement | Three families have been reported (as of September 2011) [MISCELLANEOUS]
Mild disorder [MISCELLANEOUS]
Onset at birth [MISCELLANEOUS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 5q11.2
|
| MIMTYPEMEANING | Mendelian phenotype or locus, molecular basis unknown.
|
| notation | 614200
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3280114
|
| OMIM Entry Type | 5
|
| OMIM MimType Value | perc
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |