PropertyValue
?:definition
  • Molecular assay reagents intended for use in identifying the abnormal situation in which both members of the chromosome pair 15 are inherited from the father (i.e., uniparental disomy [UPD]) and the mother\'s chromosome for that pair is missing. Paternally inherited disomy 15 results in Angelman\'s syndrome, which is characterized by developmental disability with absent speech, ataxic movements and gait, seizures, and paroxysmal laughter. 2-3% of Angelman\'s syndrome patients have paternal UPD15, and 70% have a deletion in 15q11-15q13.
?: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/C3690013_UMD>
<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/C3690013_UMD>
<http://purl.org/net/provenance/ns#createdBy>
Anon_1   (more)
expand all