DiseaseID 3435
Bernard-Soulier综合征
disease
NCI2016_02D: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 presenc
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Disease: 1Symptom: 4Target: 21Links: 28
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 3435
- Core Entity Id
- 59641
- Source Entity Count
- 1
- Preferred Name
- Bernard-Soulier Syndrome
- Name Cn
- Bernard-Soulier综合征
- Name Pinyin
- Bernard-soulier Zong He Zheng
- Name En
- Bernard-Soulier Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
- Do Class
- disease of anatomical entity; genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
- Hpo Class Name
- Do Class Name
- genetic disease; disease of anatomical entity
- Disease Definition
- NCI2016_02D: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.|MSH2017_2016_08_12:A familial coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, and impaired prothrombin consumption.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Bernard-Soulier Syndrome
Role
preferred
Name
Bernard Soulier Syndrome, Type B
Role
preferred
Name
Bernard Soulier Syndrome, Type C
Role
preferred
Name
Deficiency Of Platelet Glycoprotein 1B
Role
preferred
Name
BERNARD-SOULIER SYNDROME, TYPE A1
Role
preferred
Name
Bernard-Soulier Syndrome, Type B
Role
preferred
Name
Bernard-Soulier Syndrome, Type C
Role
preferred
Name
BDPLT1
Role
alias
Name
BLEEDING DISORDER, PLATELET-TYPE, 1
Role
alias
Name
BSS
Role
alias
Name
GLYCOPROTEIN Ib, PLATELET, DEFICIENCY OF
Role
alias
Name
PLATELET GLYCOPROTEIN Ib DEFICIENCY
Role
alias
Name
VON WILLEBRAND FACTOR RECEPTOR DEFICIENCY
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS000317HBDIS017301HBDIS017302HBDIS019664HBDIS021164
Me Sh
D001606
Omim
231200
Umls
C0005129C1856447C1856448C2713537C3278148
Sym Map
SMDE01834SMDE06393SMDE06394SMDE07758
Do Class
DOID:630DOID:7
Dis Ge Net
C0005129C1856447C1856448C2713537C3278148
Umls Sty
T047
Me Sh Class
C15C16
Etcm Disease
Bernard-Soulier Syndrome
Tcmbank Disease
1304523390257732656575
Itcmdb Generated
ITX-DISEASE-2FC19751064DITX-DISEASE-4E71CCE0532A
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2v2
Suppress
0
Page Title
Disease Bernard-Soulier Syndrome Details page
Do Class Name
genetic disease; disease of anatomical entity
Disease Type
disease
Do Disease Class
disease of anatomical entity; genetic disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Bernard-Soulier Syndrome
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Skin diseases
Disease Definition
NCI2016_02D: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.|MSH2017_2016_08_12:A familial coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, and impaired prothrombin consumption.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
Umls Semantic Type Name
Disease or Syndrome