DiseaseID 18129
蛋白S缺乏所致易栓症，常染色体隐性遗传
disease
Congenital protein S deficiency is an inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S.
Relationship Network
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Disease: 1Symptom: 3Target: 1Links: 4
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 18129
- Core Entity Id
- 76477
- Source Entity Count
- 1
- Preferred Name
- Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
- Name Cn
- 蛋白S缺乏所致易栓症，常染色体隐性遗传
- Name Pinyin
- Dan Bai S Que Fa Suo Zhi Yi Shuan Zheng ， Chang Ran Se Ti Yin Xing Yi Chuan
- Name En
- Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- Congenital protein S deficiency is an inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Role
preferred
Name
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Role
preferred
Name
THPH6
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS021378
Omim
614514
Umls
C3281092
Icd10
D68.5
Sym Map
SMDE01125SMDE02341
Dis Ge Net
C3281092
Orphanet
743
Umls Sty
T047
Tcmbank Disease
9308
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disease Definition
Congenital protein S deficiency is an inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S.
Dis Ge Net Disease Type
disease
Umls Semantic Type Name
Disease or Syndrome