Mosaicism


Ontology type: npg:Subject  | skos:Concept     


Concept Info

NAME

Mosaicism

DESCRIPTION

Mosaicism is the occurrence in an organism of two or more genetically distinct cell populations derived from the same individual. In human genetics, the consequences of aneuploidy or gene mutation can be less severe if the affected individual also contains some normal cells.

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Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/ontologies/subjects/mosaicism'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/ontologies/subjects/mosaicism'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/ontologies/subjects/mosaicism'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/ontologies/subjects/mosaicism'


 

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

58 TRIPLES      8 PREDICATES      10 URIs      4 LITERALS

Subject Predicate Object
1 sg:ontologies/subjects/mosaicism sgo:license sg:explorer/license/
2 sgo:sdDataset onto_subjects
3 rdf:type npg:Subject
4 skos:Concept
5 rdfs:label Mosaicism
6 skos:broader sg:ontologies/subjects/chromosome-abnormality
7 skos:definition Mosaicism is the occurrence in an organism of two or more genetically distinct cell populations derived from the same individual. In human genetics, the consequences of aneuploidy or gene mutation can be less severe if the affected individual also contains some normal cells.
8 skos:inScheme sg:ontologies/subjects/
9 skos:prefLabel Mosaicism
10 sg:ontologies/subjects/ dcterms:description The Nature Subjects Taxonomy is a polyhierarchical categorization of scholarly subject areas which are used for the indexing of content by Springer Nature.
11 dcterms:title Nature Subjects Taxonomy
12 sgo:sdDataset onto_subjects
13 rdf:type skos:ConceptScheme
14 skos:hasTopConcept sg:ontologies/subjects/DEPRECATED
15 sg:ontologies/subjects/biological-sciences
16 sg:ontologies/subjects/business-and-commerce
17 sg:ontologies/subjects/earth-and-environmental-sciences
18 sg:ontologies/subjects/health-sciences
19 sg:ontologies/subjects/humanities
20 sg:ontologies/subjects/physical-sciences
21 sg:ontologies/subjects/scientific-community-and-society
22 sg:ontologies/subjects/social-science
23 sg:ontologies/subjects/chromosome-abnormality sgo:sdDataset onto_subjects
24 rdf:type npg:Subject
25 skos:Concept
26 rdfs:label Chromosome abnormality
27 skos:altLabel Abnormal Karyotype
28 Abnormal Karyotypes
29 Autosome Abnormalities
30 Autosome Abnormality
31 Chromosomal Aberration
32 Chromosomal Aberrations
33 Chromosomal Abnormalities
34 Chromosomal anomalies
35 Chromosomal anomaly
36 Chromosome Aberration
37 Chromosome Aberrations
38 Chromosome Abnormalities
39 Chromosome anomalies
40 Chromosome anomaly
41 Cytogenetic Aberration
42 Cytogenetic Aberrations
43 Cytogenetic Abnormalities
44 Cytogenetic Abnormality
45 skos:broader sg:ontologies/subjects/clinical-genetics
46 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.
47 skos:inScheme sg:ontologies/subjects/
48 skos:narrower sg:ontologies/subjects/aneuploidy
49 sg:ontologies/subjects/chimaerism
50 sg:ontologies/subjects/genetic-translocation
51 sg:ontologies/subjects/mosaicism
52 sg:ontologies/subjects/uniparental-disomy
53 skos:prefLabel Chromosome abnormality
54 skos:Concept sgo:sdDataset for_codes
55 rdf:type rdfs:Class
56 rdfs:Resource
57 rdfs:subClassOf rdfs:Resource
58 skos:Concept
 




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