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DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion

Go to external page http://purl.obolibrary.org/obo/MONDO_0017283

Synonyms: facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Del(10)(p11.21p12.31) deletion 10p11.21p12.31 monosomy 10p11.21p12.31 10p12p11 microdeletion syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:284169 (MONDO:equivalentTo)
  • MEDGEN:1681325 (MONDO:equivalentTo)
  • GARD:17311 (MONDO:GARD)
  • UMLS:C5190804 (MONDO:equivalentTo)
Subsets

gard_rare, otar, rare, ordo_subtype_of_a_disorder, nord_rare

IAO 0000233

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

https://github.com/monarch-initiative/mondo/issues/5546

https://github.com/monarch-initiative/mondo/issues/5424

exactMatch

http://www.orpha.net/ORDO/Orphanet_284169

http://linkedlifedata.com/resource/umls/id/C5190804

http://identifiers.org/medgen/1681325

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0014741

id

MONDO:0017283