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2p13.2 microdeletion syndrome

^ http://purl.obolibrary.org/obo/MONDO_0018207

2p13.2 microdeletion syndrome is a rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy. [ Orphanet:363680 ]

Term info

database cross reference
  • Orphanet:363680 (MONDO:equivalentTo)
  • UMLS:CN204723 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

IAO 0000233

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

definition

2p13.2 microdeletion syndrome is a rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_363680, http://linkedlifedata.com/resource/umls/id/CN204723

excluded subClassOf

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

has exact synonym

Del(2)(p13.2)

id

MONDO:0018207