About: intermediate 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	autosomal recessive disease childhood spinal muscular atrophy nodeID://b50937070 nodeID://b50937071 nodeID://b50937072 nodeID://b50937073
label	intermediate 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:0050530
database_cross_reference	MESH:D014897 NCI:C156310 OMIM:253550 SNOMEDCT_US_2021_09_01:128212001 UMLS_CUI:C0393538
has_exact_synonym	MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM (en) MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE (en) SMA II (en) SMA2 (en) spinal muscular atrophy 2 (en) spinal muscular atrophy type II (en)
has_obo_namespace	disease_ontology
in_subset	DO_FlyBase_slim
http://purl.obolib...g/obo/IAO_0000115	A childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length of life, and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50937074

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