DiseaseID 5293

血小板无力症

disease

NCI2016_02D:A rare inherited bleeding disorder characterized by the decrease or absence of the platelet alpha-granules and their proteins in the peripheral blood platelets.|MSH2017_2016_08_12:A rare, inherited platelet d

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Disease: 1Herb: 1Symptom: 10Target: 21Links: 35
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Record Fields

Scalar fields from the final disease record.

Disease Id
5293
Core Entity Id
61769
Source Entity Count
1
Preferred Name
Thrombasthenia
Name Cn
血小板无力症
Name Pinyin
Xue Xiao Ban Wu Li Zheng
Name En
Thrombasthenia
Name Latin
Bilingual Status
complete
Disease Type
disease
Umls Disease Type
Cell or Molecular Dysfunction
Disgenet Type
disease
Mesh Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesHemic and Lymphatic Diseases
Do Class
disease of anatomical entity; genetic disease
Hpo Class
Abnormality of blood and blood-forming tissues
Mesh Class Name
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesHemic and Lymphatic Diseases
Hpo Class Name
Abnormality of blood and blood-forming tissues
Do Class Name
genetic disease; disease of anatomical entity
Disease Definition
NCI2016_02D:A rare inherited bleeding disorder characterized by the decrease or absence of the platelet alpha-granules and their proteins in the peripheral blood platelets.|MSH2017_2016_08_12:A rare, inherited platelet disorder characterized by a selective deficiency in the number and contents of platelet alpha-granules. It is associated with THROMBOCYTOPENIA, enlarged platelets, and prolonged bleeding time.
Version
v1,v2
Suppressed
No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name
Thrombasthenia
Role
preferred
Name
Bleeding Disorder, Platelet-Type, 18
Role
preferred
Name
Glanzmann Thrombasthenia
Role
preferred
Name
Glanzmann Thrombasthenia, Type A
Role
preferred
Name
Gray Platelet Syndrome
Role
preferred
Name
Platelet Alpha-Granule Deficiency
Role
preferred
Name
Abnormal Platelets
Role
preferred
Name
Decreased Platelet Glycoprotein Iib-Iiia
Role
preferred
Name
Qualitative Platelet Deficiency
Role
preferred
Name
Qualitative Platelet Disorder
Role
preferred
Name
Thrombasthenia-Thrombocytopenia, Hereditary
Role
preferred
Name
Abnormal Thrombocyte Morphology
Role
alias
Name
BDPLT18
Role
alias
Name
BDPLT2
Role
alias
Name
BDPLT4
Role
alias
Name
BLEEDING DISORDER, PLATELET-TYPE, 2
Role
alias
Name
BLEEDING DISORDER, PLATELET-TYPE, 4
Role
alias
Name
Bleeding Disorder, Platelet-Type, 17
Role
alias
Name
GLYCOPROTEIN COMPLEX IIb-IIIa, DEFICIENCY OF
Role
alias
Name
GP IIb-IIIa COMPLEX, DEFICIENCY OF
Role
alias
Name
GPS
Role
alias
Name
GT
Role
alias
Name
Glanzmann'S Thrombasthenia
Role
alias
Name
PLATELET FIBRINOGEN RECEPTOR, DEFICIENCY OF
Role
alias
Name
PLATELET GLYCOPROTEIN IIb-IIIa DEFICIENCY
Role
alias
Name
Platelet Abnormalities
Role
alias
Name
Platelet-Type Bleeding Disorder 17
Role
alias
Name
Platelet-Type Bleeding Disorder 18
Role
alias
Name
Qualitative Platelet Defect
Role
alias
Name
Qualitative Platelet Defects
Role
alias
Name
Reduced Level of Platelet Glycoprotein Iib/Iiia Complex
Role
alias
Name
THROMBASTHENIA OF GLANZMANN AND NAEGELI
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Hpo
HP:0001872HP:0001975
Herb
HBDIS002933HBDIS003616HBDIS004994HBDIS006757HBDIS017824HBDIS019178HBDIS019668HBDIS020955HBDIS023039HBDIS023857
Me Sh
D013915D055652
Omim
139090187900273800615888
Umls
C0040015C0272302C2717750C3179396C4014584
Icd10
D69.1
Sym Map
SMDE00080SMDE04100SMDE04572SMDE09041SMDE12213
Do Class
DOID:630DOID:7
Dis Ge Net
C0040015C0151854C0235604C0272302C1861194C2585231C2717750C3179396C4014584C4021767
Umls Sty
T033T047T049
Hpo Class
HP:0001871
Me Sh Class
C15C16
Etcm Disease
Bleeding Disorder, Platelet-Type, 18Glanzmann ThrombastheniaGray Platelet Syndrome
Tcmbank Disease
120831405203332178424734251922532731718479466199027
Itcmdb Generated
ITX-DISEASE-356520AB08FEITX-DISEASE-455B404A2066ITX-DISEASE-97503A1772E6ITX-DISEASE-C4637D1515A8ITX-DISEASE-D8239F67E92EITX-DISEASE-F724A4A4D6DD

Attributes

Merged source attributes and domain-specific metadata.

Version
v1,v2v2
Suppress
0
Page Title
Disease Bleeding Disorder, Platelet-Type, 18 Details pageDisease Glanzmann Thrombasthenia Details pageDisease Gray Platelet Syndrome Details page
Do Class Name
genetic disease; disease of anatomical entity
Disease Type
diseasephenotype
Hpo Class Name
Abnormality of blood and blood-forming tissues
Do Disease Class
disease of anatomical entity; genetic disease
Hpo Disease Class
Abnormality of blood and blood-forming tissues
Umls Disease Type
Cell or Molecular DysfunctionDisease or SyndromeFinding
Basic Information
Disease Name
Bleeding Disorder, Platelet-Type, 18
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Immune diseases;Smell/Taste diseases
Disease Name
Glanzmann Thrombasthenia
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Smell/Taste diseases
Disease Name
Gray Platelet Syndrome
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Immune diseases
Disease Definition
NCI2016_02D:A rare inherited bleeding disorder characterized by the decrease or absence of the platelet alpha-granules and their proteins in the peripheral blood platelets.|MSH2017_2016_08_12:A rare, inherited platelet disorder characterized by a selective deficiency in the number and contents of platelet alpha-granules. It is associated with THROMBOCYTOPENIA, enlarged platelets, and prolonged bleeding time.NCI2016_02D:A rare, autosomal recessive inherited and less frequently acquired platelet disorder. It is characterized by deficient or dysfunctional glycoprotein IIb/IIIa complex. It leads to defective platelet aggregation, resulting in bleeding.|MSH2017_2016_08_12:A congenital bleeding disorder with prolonged bleeding time, absence of aggregation of platelets in response to most agents, especially ADP, and impaired or absent clot retraction. Platelet membranes are deficient in or have a defect in the glycoprotein IIb-IIIa complex (PLATELET GLYCOPROTEIN GPIIB-IIIA COMPLEX).|CSP2006:platelet abnormality characterized by defective clot formation, impaired aggregation, and prolonged bleeding time; other manifestations include nosebleeds, inappropriate bruising, and excessive bleeding.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesHemic and Lymphatic Diseases
Dis Ge Net Disease Type
diseasephenotype
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesHemic and Lymphatic Diseases
Umls Semantic Type Name
Cell or Molecular DysfunctionDisease or SyndromeFinding