PropertyValue
?:definition
  • Leber congenital amaurosis (blindness present at birth or shortly thereafter with variable fundus changes, abnormal electroretinogram (ERG) in association with short stature, growth hormone insufficiency, mental retardation, liver dysfunction, and metabolic acidosis.
?: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/C0796015_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/C0796015_JABL>
<http://purl.org/net/provenance/ns#createdBy>
Anon_1   (more)
expand all