C1868616_SNOMEDCT_US | Knowledge4COVID-19

Property	Value
?:definition	Parastremmatic dwarfism is a very rare chondrodysplasia with characteristics of severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs. Radiographs show bowing of long bones, platyspondyly and a very rough, irregular metaphyseal and epiphyseal bone texture. The syndrome is caused by a heterozygous mutation in the TRPV4 gene (12q24.1).
?:hasCUIAnnotation	<https://research.tib.eu/covid-19/entity/C1868616>
?: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/C1868616_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/C1868616_SNOMEDCT_US>

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

Anon_1 (more)

expand all