DiseaseID 25807
自然杀伤细胞和糖皮质激素缺乏伴DNA修复缺陷
Natural Killer Cell And Glucocorticoid Deficiency With Dna Repair Defect
NCI2016_02D:A congenital condition characterized by growth retardation, a decreased number of NK cells, glucocorticoid deficiency, and increased chromosome breakage, associated with mutation(s) in the MCM4 gene.
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Disease: 1Symptom: 1Target: 2Links: 3
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 25807
- Core Entity Id
- 118375
- Source Entity Count
- 1
- Preferred Name
- Natural Killer Cell And Glucocorticoid Deficiency With Dna Repair Defect
- Name Cn
- 自然杀伤细胞和糖皮质激素缺乏伴DNA修复缺陷
- Name Pinyin
- Zi Ran Sha Shang Xi Bao He Tang Pi Zhi Ji Su Que Fa Ban Dna Xiu Fu Que Xian
- Name En
- Natural Killer Cell And Glucocorticoid Deficiency With Dna Repair Defect
- 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_02D:A congenital condition characterized by growth retardation, a decreased number of NK cells, glucocorticoid deficiency, and increased chromosome breakage, associated with mutation(s) in the MCM4 gene.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Natural Killer Cell And Glucocorticoid Deficiency With Dna Repair Defect
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C1864947
Sym Map
SMDE00431
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Disease Definition
NCI2016_02D:A congenital condition characterized by growth retardation, a decreased number of NK cells, glucocorticoid deficiency, and increased chromosome breakage, associated with mutation(s) in the MCM4 gene.