PropertyValue
?:definition
  • An X-linked recessive disorder caused by mutation(s) in the PQBP1 gene, encoding polyglutamine-binding protein 1. It is characterized by moderate to severe intellectual disability, developmental delay and characteristic dysmorphic features, which may include short stature, microcephaly, and a narrow face.
?: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/C0796135_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/C0796135_NCI>
<http://purl.org/net/provenance/ns#createdBy>
Anon_1   (more)
expand all