DiseaseID 26777
错配修复缺陷癌症综合征
Mismatch Repair Cancer Syndrome
NCI2016_02D:An autosomal dominant hereditary neoplastic syndrome caused by mutations in the PMS2, MLH1, MSH2, or APC genes. There are two types described, type 1, characterized by the presence of glioblastoma and often a
Relationship Network
Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.
Click a node to open it in a new tab
Disease: 1Herb: 1Target: 18Links: 25
Arranging relationship network...
Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26777
- Core Entity Id
- 119345
- Source Entity Count
- 1
- Preferred Name
- Mismatch Repair Cancer Syndrome
- Name Cn
- 错配修复缺陷癌症综合征
- Name Pinyin
- Cuo Pei Xiu Fu Que Xian Ai Zheng Zong He Zheng
- Name En
- Mismatch Repair Cancer Syndrome
- 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:An autosomal dominant hereditary neoplastic syndrome caused by mutations in the PMS2, MLH1, MSH2, or APC genes. There are two types described, type 1, characterized by the presence of glioblastoma and often associated with hereditary nonpolyposis colorectal carcinoma, and type 2, characterized by the presence of medulloblastoma and familiar adenomatous polyposis.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Mismatch Repair Cancer Syndrome
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C0265325
Sym Map
SMDE04939
Etcm Disease
Mismatch Repair Cancer Syndrome
Itcmdb Generated
ITX-DISEASE-D97CF8BFF5D7
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Page Title
Disease Mismatch Repair Cancer Syndrome Details page
Basic Information
Disease Name
Mismatch Repair Cancer Syndrome
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Neuronal diseases
Disease Definition
NCI2016_02D:An autosomal dominant hereditary neoplastic syndrome caused by mutations in the PMS2, MLH1, MSH2, or APC genes. There are two types described, type 1, characterized by the presence of glioblastoma and often associated with hereditary nonpolyposis colorectal carcinoma, and type 2, characterized by the presence of medulloblastoma and familiar adenomatous polyposis.