PropertyValue
?:definition
  • Mandibulofacial dysostosis with pre and/or postaxial limb abnormalities and mental retardation. Additional abnormalities include growth retardation and short stature, microcephaly, widow\'s peak, short hands, simian creases, interdigital webbing, hypospadias, cryptorchidism, inguinal hernia, and spina bifida. The first cases were observed at the University of Catania, hence its designation \'Catania type.\'
?: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/C2931762_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/C2931762_JABL>
<http://purl.org/net/provenance/ns#createdBy>
Anon_1   (more)
expand all