PropertyValue
?:definition
  • Human OFD1 wild-type allele is located in the vicinity of Xp22 and is approximately 35 kb in length. This allele, which encodes oral-facial-digital syndrome 1, may be involved in the mediation of embryonic development. Mutations in the gene are associated with both oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2.
?:hasCUIAnnotation
?:hasGeneratedBy
?:type

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/C2698641_NCI>
<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/C2698641_NCI>
<http://purl.org/net/provenance/ns#createdBy>
Anon_1   (more)
expand all