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
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
Term relations
Subclass of:
- movement disorder
- central nervous system malformation
- congenital nervous system disorder
- multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- disease has major feature some central nervous system malformation
- disease arises from feature some neurodegenerative disease