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Diseases

Trisomy

trisomy

Entity Type
Diseases
Relation Groups
1
Relation Preview
6

Basic Information

Grouped by core information, identifiers, and descriptions.

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Core Information

Disease Name
Trisomy
Standard Disease Name
trisomy
MeSH Tree
No data
ICD-10
No data

Identifiers

DO ID
No data
MeSH ID
D014314
OMIM ID
No data
UMLS ID
C0041107
HPO ID
No data

Description and Extensions

Description
NCI2016_NCI-GLOSS_1602D:The presence of an extra chromosome, resulting in a total of three copies of that chromosome instead of the normal 2 copies (e.g., trisomy 21, or Down syndrome).|NCI2016_02D:A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number.|MSH2017_2016_08_12:The possession of a third chromosome of any one type in an otherwise diploid cell.|CSP2006:presence of an extra chromosome of one type in an otherwise diploid cell.|CHV2011_02:The condition of having three copies of a given chromosome or chromosome segment in a cell rather than the normal number of two|CHV2011_02:The condition of having three copies of a given chromosome or chromosome segment in a cell rather than the normal number of two
Related

Direct relations and traceable candidates grouped by relation type.

Related Targets

target disease6 Targets
01
CDKN2A
cyclin dependent kinase inhibitor 2A
cyclin dependent kinase inhibitor 2A
04
SON
SON DNA and RNA binding protein
SON DNA and RNA binding protein
05
TAM
Myeloproliferative syndrome, transient (transient abnormal
Myeloproliferative syndrome, transient (transient abnormal