JSON

Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome

^ http://purl.obolibrary.org/obo/MONDO_0018216

Term info

database cross reference
  • UMLS:C1864871 (Orphanet:363958)
  • Orphanet:363958 (MONDO:equivalentTo)
  • UMLS:CN204740 (MONDO:equivalentObsolete)
  • DECIPHER:57 (MONDO:equivalentTo)
  • MESH:C566476 (MONDO:equivalentTo)
  • DOID:0050880 (MONDO:equivalentTo)
  • DOID:0070076 (MONDO:equivalentObsolete)
  • SCTID:717338006 (MONDO:equivalentTo)
Subsets

ordo_etiological_subtype

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/3664, https://github.com/monarch-initiative/mondo/issues/4174

exactMatch

http://purl.obolibrary.org/obo/Orphanet_363958, http://linkedlifedata.com/resource/umls/id/C1864871, http://purl.obolibrary.org/obo/DOID_0050880, http://identifiers.org/snomedct/717338006, http://identifiers.org/mesh/C566476

has exact synonym

monosomy 17q21.31, 17q21.31 recurrent microdeletion syndrome, Del(17)(q21.31)

id

MONDO:0018216