DiseaseID 27822
13号染色体重复
Chromosome 13 Duplication
NCI2016_02D:A chromosomal abnormality characterized by the presence of three copies of genetic material for chromosome 13, instead of the normal two. It leads to a variety of abnormalities that include mental retardation
Relationship Network
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Disease: 1Symptom: 1Target: 11Links: 12
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 27822
- Core Entity Id
- 120390
- Source Entity Count
- 1
- Preferred Name
- Chromosome 13 Duplication
- Name Cn
- 13号染色体重复
- Name Pinyin
- 13 Hao Ran Se Ti Chong Fu
- Name En
- Chromosome 13 Duplication
- 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 chromosomal abnormality characterized by the presence of three copies of genetic material for chromosome 13, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Chromosome 13 Duplication
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C2936830
Sym Map
SMDE07106
Itcmdb Generated
ITX-DISEASE-121160A1CB7E
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Disease Definition
NCI2016_02D:A chromosomal abnormality characterized by the presence of three copies of genetic material for chromosome 13, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities.