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

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

SELECT ?description WHERE { ?? (rdfs:comment|schema:description) ?description . } Erbkrankheit, die durch eine Mutation eines einzelnen Gens verursacht wird.

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

Attributes

Name
monogene Erbkrankheit
Name
monogenic disease
Name
maladie héréditaire monogénique
Name
malattia ereditaria monogenica
Description
Erbkrankheit, die durch eine Mutation eines einzelnen Gens verursacht wird.
Description
Inherited disease controlled by a single pair of genes.
Description
Maladie héréditaire causée par la mutation d’un seul gène.
Description
Malattia ereditaria causata dalla mutazione di un solo gene.
dateModified
2024-08-07T10:15:24.1936720Z
Identifier
41236
URL
https://www.termdat.bk.admin.ch/entry/41236
citation
BoBR Präimplantationsdiagnostik, Glossar (BBl 2013 5960)
citation
The Free Dictionary, "monogenic disease" ([Internet, 2020-03-30](http://www.thefreedictionary.com/monogenic+disease))
citation
MCF Diagnostic préimplantatoire, Glossaire (FF 2013 5358)
citation
MCF Diagnosi preimpianto, Glossario (FF 2013 5148)
position
1
descriptionCitation
BoBR Präimplantationsdiagnostik, Glossar (BBl 2013 5960)
descriptionCitation
The Free Dictionary, "monogenic disease" ([Internet, 2020-03-30](http://www.thefreedictionary.com/monogenic+disease))
descriptionCitation
MCF Diagnostic préimplantatoire, Glossaire (FF 2013 5358)
descriptionCitation
MCF Diagnosi preimpianto, Glossario (FF 2013 5148)
SELECT ?property ?object WHERE { BIND (?? AS ?s) ?s ?property ?object . FILTER (isIRI(?object)) FILTER (?property != rdf:type) FILTER (?property != rdfs:subClassOf) } LIMIT 1000

Outgoing Relationships

property object
inDefinedTermSet Terminology of biomedicine
inDefinedTermSet Swiss Federal Administration
has part monogenes Erbleiden
has part monogenic disorder
has part maladie héréditaire monogène
has part malattia ereditaria monogene
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.