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3q27.3 microdeletion syndrome

^ http://purl.obolibrary.org/obo/MONDO_0018341

A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus. [ Orphanet:397695 ]

Term info

database cross reference
  • Orphanet:397695 (MONDO:equivalentTo)
  • UMLS:CN225942 (MONDO:equivalentTo)
Subsets

ordo_disease

IAO 0000233

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

definition

A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_397695, http://linkedlifedata.com/resource/umls/id/CN225942

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0016902

has exact synonym

Del(3)(q27.3)

id

MONDO:0018341