About: rigid spine muscular dystrophy 1

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	congenital muscular dystrophy autosomal recessive disease spinal disease nodeID://b50943331 nodeID://b50943332 nodeID://b50943333
label	rigid spine muscular dystrophy 1
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0110633
database_cross_reference	GARD:4723 ICD10CM:G71.2 ICD10CM:G71.8 MESH:C535683 OMIM:602771 ORDO:324604 ORDO:84132 ORDO:97244
has_exact_synonym	congenital merosin-positive muscular dystrophy with early spine rigidity (en) Eichsfeld type congenital muscular dystrophy (en) MDRS1 (en) RSMD1 (en) RSS (en) SEPN1-related myopathy (en) desmin-related myopathy with Mallory body-like inclusions (en) classic MmD (en) classic multiminicore disease (en) classic multiminicore myopathy (en) desmin-related myopathy with Mallory bodies (en) early-onset desmin-related myopathy (en) rigid spine syndrome (en) severe classic form minicore myopathy (en) severe classic form multicore myopathy (en) severe classic form multiminicore disease (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/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.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50943334

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