About: Machado-Joseph disease

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About: Machado-Joseph disease 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	autosomal dominant cerebellar ataxia
label	Machado-Joseph disease
comment	OMIM mapping confirmed by DO. [SN].
has exact match	MESH:D017827
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:1440
database_cross_reference	MESH:D017827 NCI:C84830 OMIM:109150 SNOMEDCT_US_2021_09_01:91952008 UMLS_CUI:C0024408
has_exact_synonym	Azorean disease (en) MJD (en) SCA3 (en) spinocerebellar ataxia 3 (en) spinocerebellar ataxia type 3 (en)
has_obo_namespace	disease_ontology
in_subset	DO_FlyBase_slim NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50949566

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