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Prefix	IRI
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n2	http://purl.obolibrary.org/obo/
wdrs	http://www.w3.org/2007/05/powder-s#
rdfs	http://www.w3.org/2000/01/rdf-schema#
obo	http://www.geneontology.org/formats/oboInOwl#
rdf	http://www.w3.org/1999/02/22-rdf-syntax-ns#
owl	http://www.w3.org/2002/07/owl#
xsdh	http://www.w3.org/2001/XMLSchema#

Subject Item: n2:DOID_0110633
rdf:type: owl:Class
rdfs:subClassOf: n2:DOID_0060564 _:vb50943332 _:vb50943333 n2:DOID_0050737 _:vb50943331 n2:DOID_0050557
rdfs:label: rigid spine muscular dystrophy 1
wdrs:describedby: n7:doid.owl
obo:id: DOID:0110633
obo:hasDbXref: ORDO:84132 ICD10CM:G71.8 GARD:4723 MESH:C535683 OMIM:602771 ICD10CM:G71.2 ORDO:97244 ORDO:324604
obo:hasExactSynonym: classic multiminicore disease early-onset desmin-related myopathy severe classic form minicore myopathy classic MmD congenital merosin-positive muscular dystrophy with early spine rigidity SEPN1-related myopathy desmin-related myopathy with Mallory bodies severe classic form multicore myopathy classic multiminicore myopathy MDRS1 desmin-related myopathy with Mallory body-like inclusions Eichsfeld type congenital muscular dystrophy RSMD1 RSS rigid spine syndrome severe classic form multiminicore disease
obo:hasOBONamespace: disease_ontology
n2:IAO_0000115: A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36.