JSON

neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities

^ http://purl.obolibrary.org/obo/MONDO_0033613


Term info

database cross reference
  • UMLS:C2751938 (OMIM:603513)
  • OMIM:619026 (MONDO:equivalentTo)
  • OMIM:603513 (MONDO:equivalentObsolete)
  • GARD:0010447 (MONDO:relatedTo)
  • MESH:C567853 (MONDO:equivalentTo)
Subsets

gard_rare

abbreviation
NEDSWMA [ OMIM:619026 ]

abbreviation
CPSQ1 [ MONDO:Lexical OMIM:603513 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/3680, https://github.com/monarch-initiative/mondo/issues/3807

exactMatch

http://linkedlifedata.com/resource/umls/id/C2751938, https://omim.org/entry/619026, http://identifiers.org/mesh/C567853

has exact synonym

cerebral palsy, spastic quadriplegic, 1, cerebral palsy, spastic quadriplegic, type 1, NEDSWMA

has related synonym

cerebral palsy spastic quadriplegic, CPSQ1

id

MONDO:0033613

seeAlso

https://rarediseases.info.nih.gov/diseases/10447/cerebral-palsy-spastic-quadriplegic