Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation. [ Orphanet:101 ]

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:68116008 (MONDO:equivalentTo)
  • NCIT:C122653 (MONDO:equivalentTo)
  • ICD9:333.99 (i2s)
  • Orphanet:101 (OMIM:125370)
  • ICD10:G11.8 (Orphanet:101)
  • UMLS:C0751781 (Orphanet:101)
  • DOID:0060162 (MONDO:equivalentTo)
  • OMIM:125370 (Orphanet:101)
  • GARD:0005643 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

abbreviation
DRPLA [ https://omim.org/entry/125370 MONDO:Lexical Orphanet:101 DOID:0060162 ]

abbreviation
NOD [ GARD:0005643 ]

closeMatch

http://linkedlifedata.com/resource/umls/id/C0751780

http://identifiers.org/snomedct/89480000

http://linkedlifedata.com/resource/umls/id/C0751782

http://linkedlifedata.com/resource/umls/id/C0751776

http://linkedlifedata.com/resource/umls/id/C0751777

http://identifiers.org/snomedct/702422004

http://identifiers.org/snomedct/192844008

http://linkedlifedata.com/resource/umls/id/C0751779

definition

Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation.

exactMatch

http://www.orpha.net/ORDO/Orphanet_101

http://purl.obolibrary.org/obo/NCIT_C122653

http://identifiers.org/omim/125370

http://linkedlifedata.com/resource/umls/id/C0751781

http://identifiers.org/snomedct/68116008

http://purl.obolibrary.org/obo/DOID_0060162

has exact synonym

DRPLA

Naito-Oyanagi disease

Dentatorubropallidoluysian atrophy

dentatorubral-pallidoluysian atrophy

haw River syndrome

has related synonym

NOD

Naito Oyanagi disease

ataxia, chorea, seizures, and dementia

myoclonic epilepsy with choreoathetosis

dentatorubral pallidoluysian atrophy

id

MONDO:0007435

seeAlso

https://rarediseases.info.nih.gov/diseases/5643/dentatorubral-pallidoluysian-atrophy