C1275081_NCI_NICHD | Knowledge4COVID-19

Property	Value
?:definition	A rare, genetic syndrome most often caused by BRAF gene mutations, and characterized by a distinctive facial appearance (high forehead, short nose, and widely spaced eyes), sparse and brittle hair, skin conditions, heart malformations, developmental delay, developmental delay and possible short stature due to reduced growth hormone.
?:hasCUIAnnotation	<https://research.tib.eu/covid-19/entity/C1275081>
?: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/C1275081_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/C1275081_NCI_NICHD>

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

Anon_1 (more)

expand all