C0013080_NCI_NICHD | Knowledge4COVID-19

Property	Value
?:definition	A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. This condition is characterized by distinctive facial and physical features: short stature, developmental delay, cardiac defects (atrioventricular septal defect, tetralogy of Fallot), hypo- and hyperthyroidism, autoimmune disease (type 1 diabetes mellitus), and hypogonadism.
?:hasCUIAnnotation	<https://research.tib.eu/covid-19/entity/C0013080>
?:hasGeneratedBy	<https://research.tib.eu/covid-19/SourceName/NCI_NICHD>
?:type	<https://research.tib.eu/covid-19/vocab/AnnotationDefinition>

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/C0013080_NCI_NICHD>

<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/C0013080_NCI_NICHD>

<http://purl.org/net/provenance/ns#createdBy>

Anon_1 (more)

expand all