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SELECT ?title WHERE { ?? (rdfs:label|skos:prefLabel|schema:name) ?title . } Gendefekt

SELECT ?class WHERE { ?? (rdf:type|owl:type) ?class . } DefinedTerm, Term, Validated Entry

SELECT ?description WHERE { ?? (rdfs:comment|schema:description) ?description . } Fehler in einem Gen, der z. B. dazu führen kann, dass ein fehlerhaftes Eiweiss produziert wird, was wiederum eine Krankheit verursachen kann.

SELECT ?property ?value WHERE { BIND (?? AS ?s) ?s ?property ?value . FILTER (isLiteral(?value)) } LIMIT 1000

Attributes

Name
Gendefekt
Name
genetic defect
Name
défaut génétique
Name
difetto genetico
Description
Fehler in einem Gen, der z. B. dazu führen kann, dass ein fehlerhaftes Eiweiss produziert wird, was wiederum eine Krankheit verursachen kann.
Description
Pathological change that occurs by duplication, deletion or rearrangement of DNA.
Description
Faute dans un gène qui peut entraîner p. ex. la production d'une protéine déficiente, ce qui peut provoquer une maladie.
Description
Errore in un gene che può causare p. es. la produzione di una proteina sbagliata la quale, a sua volta, può provocare una malattia.
dateModified
2024-08-07T10:12:51.4913670Z
Identifier
41237
URL
https://www.termdat.bk.admin.ch/entry/41237
citation
BoBR Präimplantationsdiagnostik, Ziff. 1.2.2.1 (BBl 2013 5862)
citation
Chronicle Online, Daily News from Cornell University, Cornell Genomics Initiative, 1999
citation
MCF Diagnostic préimplantatoire, ch. 1.2.2.1 (FF 2013 5262)
citation
MCF Diagnosi preimpianto, n. 1.2.4.1 (FF 2013 5056)
position
1
Term Note
EXP: er kann angeboren sein oder im Lauf des Lebens entstehen
Term Note
EXP: può essere innato o acquisito
termNoteCitation
Genomix-Projekte, 2006
termNoteCitation
secondo Genomix-Projekte, 2006
descriptionCitation
Chronicle Online, Daily News from Cornell University, Cornell Genomics Initiative, 1999
descriptionCitation
Simply Science, Lessico, "Difetto genico" ([Internet, 2020-03-30](https://www.simplyscience.ch/Lessico/selection/D.html))
descriptionCitation
nach Simply Science, Lexikon, "Gen-Defekt" ([Internet, 2020-03-30](https://www.simplyscience.ch/lexikon/selection/G.html))
descriptionCitation
d'après Simply Science, Lexique, "Défaut génétique" ([Internet, 2020-03-30](https://www.simplyscience.ch/lexique/selection/D.html))
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Outgoing Relationships

property object
inDefinedTermSet Terminology of biomedicine
inDefinedTermSet Swiss Federal Administration
has part Gen-Defekt
has part déficience d'un gène
has part difetto genico
has part déficience génétique
has part anomalia genetica
Reliability code Linguistic/formal check completed
termDomain MEDICINE
termDomain BIOLOGY
termDomain Pathology
SELECT ?property ?subject WHERE { BIND (?? AS ?o) ?subject ?property ?o . FILTER (?property != rdf:type) FILTER (?property != rdfs:subClassOf) } LIMIT 1000
Incoming Relationships: No results found.
SELECT ?instance ?description WHERE { BIND (?? AS ?class) ?instance (rdf:type|owl:type) ?class . OPTIONAL { ?instance schema:description ?description . } } LIMIT 5000
Instances of this Class: No results found.
SELECT ?superclass ?description WHERE { ?? rdfs:subClassOf ?superclass . OPTIONAL { ?superclass (rdfs:comment|schema:description) ?description . } } LIMIT 5000
Superclasses of this Class: No results found.
SELECT ?subclass ?description WHERE { ?subclass rdfs:subClassOf ?? . OPTIONAL { ?subclass (rdfs:comment|schema:description) ?description . } } LIMIT 5000
Subclasses of this Class: No results found.