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3p25.3 microdeletion syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0018564

A rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements. [ Orphanet:435638 ]

Synonyms: Del(3)p(25.3) intellectual disability-epilepsy-stereotypic hand movement syndrome monosomy 3p25.3

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:435638 (MONDO:equivalentTo)
  • GARD:21813 (MONDO:GARD)
  • UMLS:C5437630 (MONDO:equivalentTo)
  • MEDGEN:1733655 (MONDO:equivalentTo)
Subsets

ordo_disorder, gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare

IAO 0000233

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

exactMatch

http://identifiers.org/medgen/1733655

http://www.orpha.net/ORDO/Orphanet_435638

http://linkedlifedata.com/resource/umls/id/C5437630

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

id

MONDO:0018564