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 ]

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:91952008 (MONDO:equivalentTo)
  • DOID:1440 (MONDO:equivalentTo)
  • GARD:0006801 (Orphanet-shared)
  • ICD10:G11.8 (Orphanet:98757)
  • OMIM:109150 (Orphanet:98757)
  • NCIT:C84830 (MONDO:equivalentTo)
  • Orphanet:98757 (OMIM:109150)
  • UMLS:C0024408 (Orphanet:98757)
  • ICD9:336.8 (i2s)
  • MESH:D017827 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
MJD [ Orphanet:98757 MONDO:Lexical DOID:1440 https://omim.org/entry/109150 ]

abbreviation
SCA3 [ Orphanet:98757 ]

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://identifiers.org/omim/109150

http://purl.obolibrary.org/obo/DOID_1440

http://www.orpha.net/ORDO/Orphanet_98757

http://linkedlifedata.com/resource/umls/id/C0024408

http://purl.obolibrary.org/obo/NCIT_C84830

http://identifiers.org/snomedct/91952008

http://identifiers.org/mesh/D017827

has exact synonym

Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia

Machado-Joseph disease

SCA3

spinocerebellar ataxia type 3

MJD

Azorean disease of the nervous system

Machado disease

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