Preferred Name |
Bernard-Soulier Syndrome |
|
Synonyms |
|
|
Definitions |
A rare, autosomal recessive bleeding disorder characterized by deficiency or absence of the Ib/IX/V complex on the surface of platelets. It results in thrombocytopenia, prolonged bleeding time and the presence of giant platelets. |
|
ID |
http://purl.obolibrary.org/obo/NCIT_C84595 |
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ALT_DEFINITION |
A rare, autosomal recessive bleeding disorder characterized by deficiency or absence of the Ib/IX/V complex on the surface of platelets. It results in thrombocytopenia, prolonged bleeding and the presence of giant platelets. |
|
code |
C84595 |
|
Contributing_Source |
Cellosaurus NICHD |
|
definition |
A rare, autosomal recessive bleeding disorder characterized by deficiency or absence of the Ib/IX/V complex on the surface of platelets. It results in thrombocytopenia, prolonged bleeding time and the presence of giant platelets. |
|
in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 |
|
label |
Bernard-Soulier Syndrome |
|
Preferred_Name |
Bernard-Soulier Syndrome |
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prefixIRI |
NCIT:C84595 |
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prefLabel |
Bernard-Soulier Syndrome |
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Semantic_Type |
Disease or Syndrome |
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UMLS_CUI |
C0005129 |
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subClassOf |