About: juvenile spinal muscular atrophy

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

OMIM mapping confirmed by DO. [SN].

Attributes	Values
type	Class
subClassOf	childhood spinal muscular atrophy nodeID://b50948362 nodeID://b50948363
label	juvenile spinal muscular atrophy
comment	OMIM mapping confirmed by DO. [SN].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:12376
has_alternative_id	DOID:13161
database_cross_reference	MESH:D014897 ICD9CM:335.11 NCI:C118847 OMIM:253400 SNOMEDCT_US_2021_09_01:54280009 UMLS_CUI:C0152109
has_exact_synonym	Kugelberg-Welander disease (en) SMA3 (en) Spinal Muscular Atrophy Type 3 Type III Spinal Muscular Atrophy (en)
has_obo_namespace	disease_ontology
in_subset	NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50948364

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