JSON

childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder

^ http://purl.obolibrary.org/obo/MONDO_0044701


Term info

database cross reference
  • UMLS:CN469330 (MONDO:equivalentTo)
  • Orphanet:500180 (OMIM:617672)
  • OMIM:617672 (Orphanet:500180)
Subsets

ordo_disease

abbreviation
CONDBA [ OMIM:617672 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5588

exactMatch

http://purl.obolibrary.org/obo/Orphanet_500180, https://omim.org/entry/617672, http://linkedlifedata.com/resource/umls/id/CN469330

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

has exact synonym

UBTF-related disorder

has related synonym

neurodegeneration, childhood-onset, with brain atrophy, CONDBA

id

MONDO:0044701