loading...| Preferred Name |
Bernard-Soulier Syndrome |
|
| Synonyms |
Platelet Glycoprotein Ib Deficiency Bernard-Soulier Syndrome |
|
| 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://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84595 |
|
| 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 |
|
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 |
|
| 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. |
|
| FULL_SYN |
Platelet Glycoprotein Ib Deficiency Bernard-Soulier Syndrome |
|
| label |
Bernard-Soulier Syndrome |
|
| Preferred_Name |
Bernard-Soulier Syndrome |
|
| prefixIRI |
Thesaurus:C84595 |
|
| Related_To_Genetic_Biomarker |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C126552 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0005129 |
|
| subClassOf |