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An Entity of Type : owl:Axiom, within Data Space : linkeddata.uriburner.com:28898 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	scapuloperoneal spinal muscular atrophy
annotatedTarget	A motor neuron disease characterized by progressive scapuloperoneal atrophy and weakness, laryngeal palsy, congenital absence of muscles and in some cases developmental abnormalities of the bones that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11.
database_cross_reference	url:https://www.ncbi.nlm.nih.gov/pubmed/1520078 url:https://www.ncbi.nlm.nih.gov/pubmed/20037587
is topic of	Human Disease Ontology

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