Clinical genetics


Ontology type: npg:Subject  | skos:Concept     


Concept Info

NAME

Clinical genetics

DESCRIPTION

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.

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        "id": "http://scigraph.springernature.com/ontologies/subjects/biological-sciences"
      }
    ], 
    "type": [
      "http://www.w3.org/2004/02/skos/core#ConceptScheme"
    ]
  }
]
 

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/clinical-genetics'

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/clinical-genetics'

Turtle is a human-readable linked data format.

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

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

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


 

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

194 TRIPLES      9 PREDICATES      17 URIs      4 LITERALS

Subject Predicate Object
1 sg:ontologies/subjects/clinical-genetics sgo:license sg:explorer/license/
2 sgo:sdDataset onto_subjects
3 rdf:type npg:Subject
4 skos:Concept
5 rdfs:label Clinical genetics
6 skos:broader sg:ontologies/subjects/genetics
7 sg:ontologies/subjects/pathogenesis
8 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.
9 skos:inScheme sg:ontologies/subjects/
10 skos:narrower sg:ontologies/subjects/cancer-genetics
11 sg:ontologies/subjects/chromosome-abnormality
12 sg:ontologies/subjects/clinical-epigenetics
13 sg:ontologies/subjects/disease-genetics
14 sg:ontologies/subjects/gene-therapy
15 sg:ontologies/subjects/genetic-testing
16 skos:prefLabel Clinical genetics
17 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.
18 dcterms:title Nature Subjects Taxonomy
19 sgo:sdDataset onto_subjects
20 rdf:type skos:ConceptScheme
21 skos:hasTopConcept sg:ontologies/subjects/DEPRECATED
22 sg:ontologies/subjects/biological-sciences
23 sg:ontologies/subjects/business-and-commerce
24 sg:ontologies/subjects/earth-and-environmental-sciences
25 sg:ontologies/subjects/health-sciences
26 sg:ontologies/subjects/humanities
27 sg:ontologies/subjects/physical-sciences
28 sg:ontologies/subjects/scientific-community-and-society
29 sg:ontologies/subjects/social-science
30 sg:ontologies/subjects/cancer-genetics sgo:sdDataset onto_subjects
31 rdf:type npg:Subject
32 skos:Concept
33 rdfs:label Cancer genetics
34 skos:altLabel Genetic oncology
35 Heritable tumor genetics
36 Oncogenetics
37 skos:broader sg:ontologies/subjects/cancer
38 sg:ontologies/subjects/clinical-genetics
39 sg:ontologies/subjects/disease-genetics
40 sg:ontologies/subjects/genetics
41 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.
42 skos:inScheme sg:ontologies/subjects/
43 skos:narrower sg:ontologies/subjects/cancer-epigenetics
44 skos:prefLabel Cancer genetics
45 sg:ontologies/subjects/chromosome-abnormality sgo:sdDataset onto_subjects
46 rdf:type npg:Subject
47 skos:Concept
48 rdfs:label Chromosome abnormality
49 skos:altLabel Abnormal Karyotype
50 Abnormal Karyotypes
51 Autosome Abnormalities
52 Autosome Abnormality
53 Chromosomal Aberration
54 Chromosomal Aberrations
55 Chromosomal Abnormalities
56 Chromosomal anomalies
57 Chromosomal anomaly
58 Chromosome Aberration
59 Chromosome Aberrations
60 Chromosome Abnormalities
61 Chromosome anomalies
62 Chromosome anomaly
63 Cytogenetic Aberration
64 Cytogenetic Aberrations
65 Cytogenetic Abnormalities
66 Cytogenetic Abnormality
67 skos:broader sg:ontologies/subjects/clinical-genetics
68 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.
69 skos:inScheme sg:ontologies/subjects/
70 skos:narrower sg:ontologies/subjects/aneuploidy
71 sg:ontologies/subjects/chimaerism
72 sg:ontologies/subjects/genetic-translocation
73 sg:ontologies/subjects/mosaicism
74 sg:ontologies/subjects/uniparental-disomy
75 skos:prefLabel Chromosome abnormality
76 sg:ontologies/subjects/clinical-epigenetics sgo:sdDataset onto_subjects
77 rdf:type npg:Subject
78 skos:Concept
79 rdfs:label Clinical epigenetics
80 skos:broader sg:ontologies/subjects/clinical-genetics
81 skos:definition Clinical epigenetics is the application of molecular biology techniques detecting alterations in DNA methylation or histone modification to diagnose or study disorders characterized by heritable defects in the expression of a gene or genome. Applications include Rett syndrome, disorders of imprinting, uniparental inheritance of chromosomes and chromosome segments, and somatic epigenetic anomalies in cancers.
82 skos:inScheme sg:ontologies/subjects/
83 skos:narrower sg:ontologies/subjects/cancer-epigenetics
84 skos:prefLabel Clinical epigenetics
85 sg:ontologies/subjects/disease-genetics sgo:sdDataset onto_subjects
86 rdf:type npg:Subject
87 skos:Concept
88 rdfs:label Disease genetics
89 skos:broader sg:ontologies/subjects/clinical-genetics
90 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.
91 skos:inScheme sg:ontologies/subjects/
92 skos:narrower sg:ontologies/subjects/cancer-genetics
93 skos:prefLabel Disease genetics
94 sg:ontologies/subjects/gene-therapy sgo:sdDataset onto_subjects
95 rdf:type npg:Subject
96 skos:Concept
97 rdfs:label Gene therapy
98 skos:altLabel DNA Therapy
99 Somatic Gene Therapy
100 skos:broader sg:ontologies/subjects/biologics
101 sg:ontologies/subjects/biotechnology
102 sg:ontologies/subjects/clinical-genetics
103 sg:ontologies/subjects/therapeutics
104 skos:definition Gene therapy involves the introduction of new genes into cells, to restore or add gene expression, for the purpose of treating disease. Most commonly a mutated gene is replaced with DNA encoding a functional copy. Alternatively DNA encoding a therapeutic protein drug may be introduced.
105 skos:inScheme sg:ontologies/subjects/
106 skos:narrower sg:ontologies/subjects/targeted-gene-repair
107 skos:prefLabel Gene therapy
108 sg:ontologies/subjects/genetic-testing sgo:sdDataset onto_subjects
109 rdf:type npg:Subject
110 skos:Concept
111 rdfs:label Genetic testing
112 skos:altLabel Genetic Predictive Testing
113 Genetic Predisposition Testing
114 Genetic Screening
115 Genetic Screenings
116 Predictive Genetic Testing
117 skos:broader sg:ontologies/subjects/clinical-genetics
118 sg:ontologies/subjects/diagnosis
119 sg:ontologies/subjects/genetic-services
120 skos:definition Genetic testing involves the detection of specific alleles, mutations, genotypes or karyotypes that are associated with heritable traits, diseases or predispositions to disease for the individual or their descendants. Genetic testing may also be used as a method for the determination of parentage or ancestry.
121 skos:inScheme sg:ontologies/subjects/
122 skos:prefLabel Genetic testing
123 sg:ontologies/subjects/genetics sgo:sdDataset onto_subjects
124 rdf:type npg:Subject
125 skos:Concept
126 rdfs:label Genetics
127 skos:broader sg:ontologies/subjects/biological-sciences
128 skos:definition Genetics is the branch of science concerned with genes, heredity, and variation in living organisms. It seeks to understand the process of trait inheritance from parents to offspring, including the molecular structure and function of genes, gene behaviour in the context of a cell or organism (e.g. dominance and epigenetics), gene distribution, and variation and change in populations.
129 skos:inScheme sg:ontologies/subjects/
130 skos:narrower sg:ontologies/subjects/agricultural-genetics
131 sg:ontologies/subjects/animal-breeding
132 sg:ontologies/subjects/behavioural-genetics
133 sg:ontologies/subjects/cancer-genetics
134 sg:ontologies/subjects/cancer-genomics
135 sg:ontologies/subjects/clinical-genetics
136 sg:ontologies/subjects/consanguinity
137 sg:ontologies/subjects/crispr-cas-systems
138 sg:ontologies/subjects/cytogenetics
139 sg:ontologies/subjects/development
140 sg:ontologies/subjects/epigenetics
141 sg:ontologies/subjects/epigenomics
142 sg:ontologies/subjects/eukaryote
143 sg:ontologies/subjects/evolutionary-biology
144 sg:ontologies/subjects/functional-genomics
145 sg:ontologies/subjects/gene-expression
146 sg:ontologies/subjects/gene-regulation
147 sg:ontologies/subjects/genetic-association-study
148 sg:ontologies/subjects/genetic-hybridization
149 sg:ontologies/subjects/genetic-interaction
150 sg:ontologies/subjects/genetic-linkage-study
151 sg:ontologies/subjects/genetic-markers
152 sg:ontologies/subjects/genome
153 sg:ontologies/subjects/genomic-instability
154 sg:ontologies/subjects/genomics
155 sg:ontologies/subjects/genotype
156 sg:ontologies/subjects/haplotypes
157 sg:ontologies/subjects/heritable-quantitative-trait
158 sg:ontologies/subjects/immunogenetics
159 sg:ontologies/subjects/inbreeding
160 sg:ontologies/subjects/medical-genetics
161 sg:ontologies/subjects/microbial-genetics
162 sg:ontologies/subjects/mutation
163 sg:ontologies/subjects/neurodevelopmental-disorders
164 sg:ontologies/subjects/plant-breeding
165 sg:ontologies/subjects/plant-genetics
166 sg:ontologies/subjects/polyploidy
167 sg:ontologies/subjects/population-genetics
168 sg:ontologies/subjects/prokaryote
169 sg:ontologies/subjects/quantitative-trait
170 sg:ontologies/subjects/rna-splicing
171 sg:ontologies/subjects/rnai
172 sg:ontologies/subjects/sequencing
173 skos:prefLabel Genetics
174 sg:ontologies/subjects/pathogenesis sgo:sdDataset onto_subjects
175 rdf:type npg:Subject
176 skos:Concept
177 rdfs:label Pathogenesis
178 skos:altLabel causality
179 causes
180 etiology
181 skos:broader sg:ontologies/subjects/health-sciences
182 skos:definition Pathogenesis is the term that is used to describe the origin and development of a disease.
183 skos:inScheme sg:ontologies/subjects/
184 skos:narrower sg:ontologies/subjects/clinical-genetics
185 sg:ontologies/subjects/immunopathogenesis
186 sg:ontologies/subjects/infection
187 sg:ontologies/subjects/inflammation
188 sg:ontologies/subjects/oncogenesis
189 skos:prefLabel Pathogenesis
190 skos:Concept sgo:sdDataset for_codes
191 rdf:type rdfs:Class
192 rdfs:Resource
193 rdfs:subClassOf rdfs:Resource
194 skos:Concept
 




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