C4749506_SNOMEDCT_US | Knowledge4COVID-19

Property	Value
?:definition	A rare genetic distal myopathy disorder with characteristics of middle age-onset distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness has been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.
?:hasCUIAnnotation	<https://research.tib.eu/covid-19/entity/C4749506>
?: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/C4749506_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/C4749506_SNOMEDCT_US>

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

Anon_1 (more)

expand all