PropertyValue
?:definition
  • A syndrome of delayed mental and physical development, ectodermal dysplasia, skeletal abnormalities, (hemivertebrae, scoliosis, and polydactyly), Hirschsprung syndrome (megacolon with agangliosis), ear deformities with deafness, eye defects, cleft palate, polycystic kidneys, and other anomalies. BFESHECK is an acronym encompassing all the broad spectrum of symptoms; BRESEK (brain anomalies-retardation of mentality-ectodermal dysplasia-kidney dysplasia/hypoplasia) reflects only the common manifestations.
?: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/C0796269_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/C0796269_JABL>
<http://purl.org/net/provenance/ns#createdBy>
Anon_1   (more)
expand all