PropertyValue
?:definition
  • Inverted duplication of the short arm of chromosome 8. Orofacial anomalies, consisting of a prominent forehead, highly arched palate, large mouth with a thin upper lip, malformed ears, broad nasal bridge, occur in association with mental retardation, skeletal abnormalities, and joint laxity. Various dermatologic, cardiac, ophthalmologic, and other abnormalities may occur. Phenotypic expression is determined by different breakpoints.
?: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/C0795826_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/C0795826_JABL>
<http://purl.org/net/provenance/ns#createdBy>
Anon_1   (more)
expand all