DiseaseID 17714
C1Q缺陷症
disease
NCI2016_NICHD_1602D:Lack of production of functional C1q proteins, due to a genetic defect. Virtually 100% of patients with a C1q deficiency will develop a severe systemic lupus erythematosus at an early age. Patients al
Relationship Network
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Disease: 1Target: 5Links: 5
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 17714
- Core Entity Id
- 75993
- Source Entity Count
- 1
- Preferred Name
- C1Q Deficiency
- Name Cn
- C1Q缺陷症
- Name Pinyin
- C1q Que Xian Zheng
- Name En
- C1Q Deficiency
- 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
- NCI2016_NICHD_1602D:Lack of production of functional C1q proteins, due to a genetic defect. Virtually 100% of patients with a C1q deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae.|NCI2016_02D:Lack of production of functional C1q proteins, due to a genetic defect. Virtually 100% of patients with a C1q deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
C1Q Deficiency
Role
preferred
Name
C1QD
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS020703
Omim
613652
Umls
C3150902
Sym Map
SMDE04216
Dis Ge Net
C3150902
Umls Sty
T047
Tcmbank Disease
16596
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disease Definition
NCI2016_NICHD_1602D:Lack of production of functional C1q proteins, due to a genetic defect. Virtually 100% of patients with a C1q deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae.|NCI2016_02D:Lack of production of functional C1q proteins, due to a genetic defect. Virtually 100% of patients with a C1q deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae.
Dis Ge Net Disease Type
disease
Umls Semantic Type Name
Disease or Syndrome