About: Ullrich congenital muscular dystrophy

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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	congenital muscular dystrophy autosomal dominant disease autosomal recessive disease nodeID://b50937109 nodeID://b50937110 nodeID://b50937111 nodeID://b50937112
label	Ullrich congenital muscular dystrophy
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:0050558
database_cross_reference	GARD:4769 OMIM:254090
has_exact_synonym	ULLRICH DISEASE (en) Ullrich scleroatonic muscular dystrophy (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A congenital muscular dystrophy that is characterized by muscle weakness and respiratory depression and has_material_basis_in mutation in the COL6A1, COL6A2 and COL6A3 that produce components of type VI collagen.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50937113

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