DiseaseID 26485
补体成分C1r/C1s缺陷
Complement Component C1R/C1S Deficiency
NCI2016_NICHD_1602D:Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an ea
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Disease: 1Symptom: 1Target: 1Links: 2
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26485
- Core Entity Id
- 119053
- Source Entity Count
- 1
- Preferred Name
- Complement Component C1R/C1S Deficiency
- Name Cn
- 补体成分C1r/C1s缺陷
- Name Pinyin
- Bu Ti Cheng Fen C1r/c1s Que Xian
- Name En
- Complement Component C1R/C1S Deficiency
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- NCI2016_NICHD_1602D:Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s 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 either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s 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,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Complement Component C1R/C1S Deficiency
Role
preferred
Name
C1r/C1s DEFICIENCY
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Omim
216950
Umls
C3150274
Sym Map
SMDE03707
Itcmdb Generated
ITX-DISEASE-C483A907990E
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Disease Definition
NCI2016_NICHD_1602D:Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s 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 either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae.