C4304501_SNOMEDCT_US | Knowledge4COVID-19

Property	Value
?:definition	A very rare syndrome with the association of gingival fibromatosis and craniofacial dysmorphism. It has been described in two siblings. Craniofacial dysmorphism consists of relative macrocephaly, bushy eyebrows with synophrys, hypertelorism, downslanting palpebral fissures, flattened nasal bridge and high arched palate. The patients have normal intellect.The condition seems to be hereditary, transmitted as an autosomal recessive trait.
?:hasCUIAnnotation	<https://research.tib.eu/covid-19/entity/C4304501>
?:hasGeneratedBy	<https://research.tib.eu/covid-19/SourceName/SNOMEDCT_US>
?: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/C4304501_SNOMEDCT_US>

<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/C4304501_SNOMEDCT_US>

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

Anon_1 (more)

expand all