JSON

Machado-Joseph disease

^ http://purl.obolibrary.org/obo/MONDO_0007182

Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations. [ Orphanet:98757 ]

Term info

database cross reference
  • GARD:0006801 (MONDO:equivalentTo)
  • ICD9:336.8 (MONDO:relatedTo)
  • SCTID:91952008 (MONDO:equivalentTo)
  • MESH:D017827 (MONDO:equivalentTo)
  • OMIM:109150 (Orphanet:98757/e)
  • DOID:1440 (MONDO:equivalentTo)
  • Orphanet:98757 (OMIM:109150)
  • UMLS:C0024408 (Orphanet:98757)
  • NCIT:C84830 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
SCA3 [ Orphanet:98757 ]

abbreviation
MJD [ DOID:1440 Orphanet:98757 MONDO:Lexical OMIM:109150 ]

definition

Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations.

exactMatch

http://purl.obolibrary.org/obo/DOID_1440, http://linkedlifedata.com/resource/umls/id/C0024408, http://purl.obolibrary.org/obo/NCIT_C84830, http://identifiers.org/snomedct/91952008, http://purl.obolibrary.org/obo/Orphanet_98757, https://omim.org/entry/109150, http://identifiers.org/mesh/D017827

has exact synonym

Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia, Machado-Joseph disease, SCA3, spinocerebellar ataxia type 3, MJD, Machado disease, Azorean disease of the nervous system, autosomal dominant striatonigral degeneration, Azorean disease, spinocerebellar ataxia 3

has related synonym

Azorean neurologic disease, spinocerebellar atrophy 3, Nigrospinodentatal Degeneration, Spinopontine atrophy, spinocerebellar atrophy type 3

id

MONDO:0007182