Disease genetics


Ontology type: npg:Subject  | skos:Concept     


Concept Info

NAME

Disease genetics

DESCRIPTION

Disease genetics, of human, animal and plant diseases, investigates the consequences of pathogenic (host) genetic variants as the major causes of heritable disorders (monogenic diseases) as well as the consequences of genome variation in the population to the variable predisposition of the individual to complex diseases with infectious or environmental causes.

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Narrower Concepts

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

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

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

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

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


 

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

58 TRIPLES      9 PREDICATES      11 URIs      4 LITERALS

Subject Predicate Object
1 sg:ontologies/subjects/disease-genetics sgo:license sg:explorer/license/
2 sgo:sdDataset onto_subjects
3 rdf:type npg:Subject
4 skos:Concept
5 rdfs:label Disease genetics
6 skos:broader sg:ontologies/subjects/clinical-genetics
7 skos:definition Disease genetics, of human, animal and plant diseases, investigates the consequences of pathogenic (host) genetic variants as the major causes of heritable disorders (monogenic diseases) as well as the consequences of genome variation in the population to the variable predisposition of the individual to complex diseases with infectious or environmental causes.
8 skos:inScheme sg:ontologies/subjects/
9 skos:narrower sg:ontologies/subjects/cancer-genetics
10 skos:prefLabel Disease genetics
11 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.
12 dcterms:title Nature Subjects Taxonomy
13 sgo:sdDataset onto_subjects
14 rdf:type skos:ConceptScheme
15 skos:hasTopConcept sg:ontologies/subjects/DEPRECATED
16 sg:ontologies/subjects/biological-sciences
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19 sg:ontologies/subjects/health-sciences
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24 sg:ontologies/subjects/cancer-genetics sgo:sdDataset onto_subjects
25 rdf:type npg:Subject
26 skos:Concept
27 rdfs:label Cancer genetics
28 skos:altLabel Genetic oncology
29 Heritable tumor genetics
30 Oncogenetics
31 skos:broader sg:ontologies/subjects/cancer
32 sg:ontologies/subjects/clinical-genetics
33 sg:ontologies/subjects/disease-genetics
34 sg:ontologies/subjects/genetics
35 skos:definition Cancer genetics is the study in humans and other animals of heritable gene variants that cause or confer altered risk of tumour or hematological malignancy. Individual cancer risk varies and is influenced by familial and sporadic oncogene or tumour suppressor gene mutations as well as rare and common constitutional variants present in the population.
36 skos:inScheme sg:ontologies/subjects/
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39 sg:ontologies/subjects/clinical-genetics sgo:sdDataset onto_subjects
40 rdf:type npg:Subject
41 skos:Concept
42 rdfs:label Clinical genetics
43 skos:broader sg:ontologies/subjects/genetics
44 sg:ontologies/subjects/pathogenesis
45 skos:definition Clinical genetics involves the study, counselling and treatment of individuals and families with heritable disorders and disease predisposition. Diagnostic tools include standard ontologies for describing dysmorphology and traits, pedigree analysis, disease locus mapping by linkage or homozygosity, karyotyping, genome sequencing and genotyping.
46 skos:inScheme sg:ontologies/subjects/
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53 skos:prefLabel Clinical genetics
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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