Chromosome abnormality


Ontology type: npg:Subject  | skos:Concept     


Concept Info

NAME

Chromosome abnormality

DESCRIPTION

Chromosome abnormality is the condition in a cell or organism where the number of chromosomes or the structure of any chromosome differs from the normal karyotype. When the variant genotype is not associated with abnormal phenotypes (traits), chromosomal abnormalities are referred to as karyotype variation or structural genome variation.

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This table displays all metadata directly associated to this object as RDF triples.

124 TRIPLES      10 PREDICATES      33 URIs      22 LITERALS

Subject Predicate Object
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3 rdf:type npg:Subject
4 skos:Concept
5 rdfs:label Chromosome abnormality
6 skos:altLabel Abnormal Karyotype
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8 Autosome Abnormalities
9 Autosome Abnormality
10 Chromosomal Aberration
11 Chromosomal Aberrations
12 Chromosomal Abnormalities
13 Chromosomal anomalies
14 Chromosomal anomaly
15 Chromosome Aberration
16 Chromosome Aberrations
17 Chromosome Abnormalities
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19 Chromosome anomaly
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24 skos:broader sg:ontologies/subjects/clinical-genetics
25 skos:definition Chromosome abnormality is the condition in a cell or organism where the number of chromosomes or the structure of any chromosome differs from the normal karyotype. When the variant genotype is not associated with abnormal phenotypes (traits), chromosomal abnormalities are referred to as karyotype variation or structural genome variation.
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