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20q11.2 microduplication syndrome

^ http://purl.obolibrary.org/obo/MONDO_0018204

20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features. [ Orphanet:363659 ]

Term info

database cross reference
  • Orphanet:363659 (MONDO:equivalentTo)
  • UMLS:CN204718 (MONDO:equivalentTo)
  • SCTID:763061004 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/3492

definition

20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_363659, http://linkedlifedata.com/resource/umls/id/CN204718, http://identifiers.org/snomedct/763061004

excluded subClassOf

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

has exact synonym

dup(20)(q11.2)

id

MONDO:0018204