About: Duchenne muscular dystrophy

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About: Duchenne muscular dystrophy Goto Sponge NotDistinct Permalink

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	X-linked recessive disease muscular dystrophy nodeID://b50947931 nodeID://b50947932 nodeID://b50947933
label	Duchenne 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:11723
database_cross_reference	GARD:6291 MESH:D020388 NCI:C75482 OMIM:310200 SNOMEDCT_US_2021_09_01:155095006 UMLS_CUI:C0013264
has_exact_synonym	Muscular dystrophy, Duchenne (en)
has_obo_namespace	disease_ontology
in_subset	DO_FlyBase_slim NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50947934

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