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

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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.