DiseaseID 12116
染色体不稳定性
phenotype
NCI2016_02D:The instability of chromosomes is attributed to the continuous formation of novel chromosome mutations. These mutations form at an elevated rate in comparison to the normal cell population. The increased freq
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Disease: 1Symptom: 4Target: 11Links: 15
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 12116
- Core Entity Id
- 69589
- Source Entity Count
- 1
- Preferred Name
- Chromosomal Instability
- Name Cn
- 染色体不稳定性
- Name Pinyin
- Ran Se Ti Bu Wen Ding Xing
- Name En
- Chromosomal Instability
- Name Latin
- Bilingual Status
- complete
- Disease Type
- phenotype
- Umls Disease Type
- Cell or Molecular Dysfunction
- Disgenet Type
- phenotype
- Mesh Class
- Pathological Conditions, Signs and Symptoms
- Do Class
- Hpo Class
- Mesh Class Name
- Pathological Conditions, Signs and Symptoms
- Hpo Class Name
- Do Class Name
- Disease Definition
- NCI2016_02D:The instability of chromosomes is attributed to the continuous formation of novel chromosome mutations. These mutations form at an elevated rate in comparison to the normal cell population. The increased frequency of structural chromosome aberrations can be caused by an abnormally high incidence of DNA double-strand breaks and translocations. Screening for chromosomal breakage and rearrangement is used as a diagnostic tool in Fanconi anemia.|MSH2017_2016_08_12:An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Chromosomal Instability
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS012811
Me Sh
D043171
Umls
C1257806
Sym Map
SMDE07099
Dis Ge Net
C1257806
Umls Sty
T049
Me Sh Class
C23
Tcmbank Disease
7147
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Disease Type
phenotype
Umls Disease Type
Cell or Molecular Dysfunction
Disease Definition
NCI2016_02D:The instability of chromosomes is attributed to the continuous formation of novel chromosome mutations. These mutations form at an elevated rate in comparison to the normal cell population. The increased frequency of structural chromosome aberrations can be caused by an abnormally high incidence of DNA double-strand breaks and translocations. Screening for chromosomal breakage and rearrangement is used as a diagnostic tool in Fanconi anemia.|MSH2017_2016_08_12:An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.
Me Sh Disease Class
Pathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
phenotype
Disease Class Name Me Sh
Pathological Conditions, Signs and Symptoms
Umls Semantic Type Name
Cell or Molecular Dysfunction