JSON

neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion

^ http://purl.obolibrary.org/obo/MONDO_0018131


Term info

database cross reference
  • UMLS:CN204512 (MONDO:equivalentTo)
  • Orphanet:352665 (MONDO:equivalentTo)
Subsets

ordo_etiological_subtype

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/3664

exactMatch

http://linkedlifedata.com/resource/umls/id/CN204512, http://purl.obolibrary.org/obo/Orphanet_352665

has exact synonym

9q21 microdeletion syndrome, Del(9)(q21)

id

MONDO:0018131