PropertyValue
?:definition
  • Deletion of the long arm of chromosome 3 with a variable phenotype consisting mainly of microcephaly, unusual facial appearance, eye abnormalities, deformed ears, and delay in growth and development. Partial deletion of the long arm of chromosome 3 is also involved in the blepharophimosis-ptosis-epicanthus inversus syndrome.
?: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/C0795808_JABL>
<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/C0795808_JABL>
<http://purl.org/net/provenance/ns#createdBy>
Anon_1   (more)
expand all