PropertyValue
?:definition
  • Deletion of the short arm of chromosome 20 with facial dysmorphism, cardiovascular abnormalities, growth and motor retardation, and recurrent respiratory infections. Deletion has been implicated in Hirschsprung syndrome (megacolon due to agangliosis) and autism.
?: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/C0795872_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/C0795872_JABL>
<http://purl.org/net/provenance/ns#createdBy>
Anon_1   (more)
expand all