About: X-linked distal spinal muscular atrophy 3

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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	X-linked recessive disease spinal muscular atrophy nodeID://b50944378 nodeID://b50944379
label	X-linked distal spinal muscular atrophy 3
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111196
database_cross_reference	MESH:C564506 OMIM:300489 ORDO:139557 UMLS_CUI:C1845359
has_exact_synonym	ATP7A-related distal motor neuropathy (en) DSMAX (en) SMAX3 (en) X-linked dHMN3 (en) X-linked dSMA3 (en) X-linked distal hereditary motor neuropathy type 3 (en) X-linked recessive distal spinal muscular atrophy (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has_material_basis_in homozygous or hemizygous mutation in ATP7A on Xq21.1.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50944380

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