JSON

2q24 microdeletion syndrome

Go to external page 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 ]

Synonyms: Del(2)(q24) monosomy 2q24

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:719658006 (MONDO:equivalentTo)
  • MEDGEN:419168 (MONDO:equivalentTo)
  • GARD:3746 (MONDO:GARD)
  • MESH:C538316 (Orphanet:1617/e)
  • Orphanet:1617 (MONDO:equivalentTo)
  • UMLS:C2931816 (MONDO:equivalentTo)
Subsets

gard_rare, otar, ordo_subtype_of_a_disorder, rare, ordo_malformation_syndrome, nord_rare

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/chromosomal_region_deletion.yaml

exactMatch

http://linkedlifedata.com/resource/umls/id/C2931816

http://identifiers.org/mesh/C538316

http://www.orpha.net/ORDO/Orphanet_1617

http://identifiers.org/snomedct/719658006

http://identifiers.org/medgen/419168

excluded subClassOf

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

has related synonym

chromosome 2q24 microdeletion syndrome

deletion 2q24

2q24 deletion

id

MONDO:0015566

term tracker item

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