childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
Go to external page http://purl.obolibrary.org/obo/MONDO_0044701
Synonyms: UBTF-related disorder
This is just here as a test because I lose it
Term information
database
cross reference
- Orphanet:500180 (OMIM:617672)
- OMIM:617672 (Orphanet:500180)
- MEDGEN:1626007 (MONDO:equivalentTo)
- UMLS:C4540086 (MONDO:equivalentTo)
- GARD:13658 (MONDO:GARD)
- DOID:0070474 (MONDO:equivalentTo)
Subsets
ordo_disorder, gard_rare, rare, nord_rare, orphanet_rare
exactMatch
http://linkedlifedata.com/resource/umls/id/C4540086
http://identifiers.org/medgen/1626007
https://omim.org/entry/617672
http://purl.obolibrary.org/obo/DOID_0070474
http://www.orpha.net/ORDO/Orphanet_500180
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