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3p25.3 microdeletion syndrome

^ 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 ]

Term info

database cross reference
  • UMLS:CN237571 (MONDO:equivalentTo)
  • Orphanet:435638 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

IAO 0000233

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

definition

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

exactMatch

http://purl.obolibrary.org/obo/Orphanet_435638, http://linkedlifedata.com/resource/umls/id/CN237571

excluded subClassOf

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

has exact synonym

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

id

MONDO:0018564