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2q24 microdeletion syndrome

^ http://purl.obolibrary.org/obo/MONDO_0015566

2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism. [ Orphanet:1617 ]

Term info

database cross reference
  • GARD:0003746 (MONDO:equivalentTo)
  • Orphanet:1617 (MONDO:equivalentTo)
  • UMLS:CN036809 (MONDO:equivalentTo)
  • MESH:C538316 (Orphanet:1617/e)
  • SCTID:719658006 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

IAO 0000233

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

definition

2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

exactMatch

http://linkedlifedata.com/resource/umls/id/CN036809, http://identifiers.org/mesh/C538316, http://identifiers.org/snomedct/719658006, http://purl.obolibrary.org/obo/Orphanet_1617

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0020226

has exact synonym

Del(2)(q24), monosomy 2q24

has related synonym

chromosome 2q24 microdeletion syndrome, deletion 2q24, 2q24 deletion

id

MONDO:0015566