C1861922_NCI_NICHD | Knowledge4COVID-19

Property	Value
?:definition	A condition associated with heterozygous mutation(s) in the SOX9 gene, characterized in 46,XY individuals by atypical development of the gonads (\'sex reversal\'), internal and external reproductive structures, with (campomelic) or without (acampomelic) skeletal dysplasia.
?:hasCUIAnnotation	<https://research.tib.eu/covid-19/entity/C1861922>
?:hasGeneratedBy	<https://research.tib.eu/covid-19/SourceName/NCI_NICHD>
?:type	<https://research.tib.eu/covid-19/vocab/AnnotationDefinition>

Metadata

Anon_0

<http://www.w3.org/1999/02/22-rdf-syntax-ns#type>

<http://purl.org/net/provenance/ns#DataItem>

<http://www.w3.org/1999/02/22-rdf-syntax-ns#type>

<http://www.w3.org/2004/03/trix/rdfg-1/Graph>

<http://xmlns.com/foaf/0.1/primaryTopic>

<https://research.tib.eu/covid-19/entity/C1861922_NCI_NICHD>

<http://xmlns.com/foaf/0.1/topic>

Anon_0

<http://www.ontologydesignpatterns.org/cp/owl/informationrealization.owl#realizes>

<https://research.tib.eu/covid-19/data/entity/C1861922_NCI_NICHD>

<http://purl.org/net/provenance/ns#createdBy>

Anon_1 (more)

expand all