DiseaseID 3978
因子XII缺乏症
disease
MSH2017_2016_08_12:An absence or reduced level of blood coagulation factor XII. It normally occurs in the absence of patient or family history of hemorrhagic disorders and is marked by prolonged clotting time.|HPO2016_07
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Disease: 1Target: 19Links: 24
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 3978
- Core Entity Id
- 60256
- Source Entity Count
- 1
- Preferred Name
- Factor Xii Deficiency
- Name Cn
- 因子XII缺乏症
- Name Pinyin
- Yin Zi Xii Que Fa Zheng
- Name En
- Factor Xii Deficiency
- 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
- genetic disease
- Hpo Class
- Abnormality of blood and blood-forming tissues
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
- Hpo Class Name
- Abnormality of blood and blood-forming tissues
- Do Class Name
- genetic disease
- Disease Definition
- MSH2017_2016_08_12:An absence or reduced level of blood coagulation factor XII. It normally occurs in the absence of patient or family history of hemorrhagic disorders and is marked by prolonged clotting time.|HPO2016_07_04:Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade. [HPO:probinson]
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Factor Xii Deficiency
Role
preferred
Name
Hereditary Factor Xii Deficiency Disease
Role
preferred
Name
Hageman Factor Deficiency
Role
alias
Name
Reduced Factor Xii Activity
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0004841
Herb
HBDIS001033HBDIS006766
Me Sh
D005175
Omim
234000
Umls
C0015526
Sym Map
SMDE04667
Do Class
DOID:630
Dis Ge Net
C0015526C0272334
Umls Sty
T047
Hpo Class
HP:0001871
Me Sh Class
C15C16
Etcm Disease
Factor Xii Deficiency
Tcmbank Disease
156718732
Itcmdb Generated
ITX-DISEASE-202C95F015E9
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Page Title
Disease Factor Xii Deficiency Details page
Do Class Name
genetic disease
Disease Type
disease
Hpo Class Name
Abnormality of blood and blood-forming tissues
Do Disease Class
genetic disease
Hpo Disease Class
Abnormality of blood and blood-forming tissues
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Factor Xii Deficiency
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases
Disease Definition
MSH2017_2016_08_12:An absence or reduced level of blood coagulation factor XII. It normally occurs in the absence of patient or family history of hemorrhagic disorders and is marked by prolonged clotting time.|HPO2016_07_04:Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade. [HPO:probinson]
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