About: nemaline myopathy 1

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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	autosomal dominant disease autosomal recessive disease nemaline myopathy nodeID://b50943923 nodeID://b50943924 nodeID://b50943925
label	nemaline myopathy 1
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0110926
database_cross_reference	OMIM:609284
has_exact_synonym	NEM1 (en) nemaline myopathy 1, autosomal dominant or recessive (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A nemaline myopathy characterized by onset typically in early childhood of mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TPM3 gene on chromosome 1q21.
is first of	nodeID://b50956998
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50943926

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