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An Entity of Type : owl:Axiom, within Data Space : demo.openlinksw.com associated with source document(s)

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type	Axiom
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
Type	http://purl.obolibrary.org/obo/ECO_0007645
annotatedProperty	http://purl.obolibrary.org/obo/IAO_0000115
annotatedSource	rigid spine muscular dystrophy 1
annotatedTarget	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.
database_cross_reference	url:https://www.ncbi.nlm.nih.gov/pubmed/11528383 url:https://www.ncbi.nlm.nih.gov/pubmed/12192640 url:https://www.ncbi.nlm.nih.gov/pubmed/15122708
is topic of	Human Disease Ontology

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