About: Native American myopathy

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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 recessive disease neuromuscular disease nodeID://b50938678 nodeID://b50938679 nodeID://b50938680
label	Native American myopathy
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060346
created_by	emitraka
creation_date	2015-06-01T17:47:31Z
database_cross_reference	GARD:8432 MESH:C538343 OMIM:255995 ORDO:168572 SNOMEDCT_US_2021_09_01:723439002 UMLS_CUI:C1850625
has_obo_namespace	disease_ontology
in_subset	DO_rare_slim
http://purl.obolib...g/obo/IAO_0000115	A neuromuscular disease characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_material_basis_in homozygous mutation in the STAC3 gene on chromosome 12q13.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50938681

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