Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023

Preferred Name	syndrome caused by partial chromosomal deletion
Synonyms	microdeletion syndrome chromosomal deletion syndrome
Definitions	Editor note: this is used in DOID to encompass typically partial deletions A chromosomal disorder consisting of the absence of a part of a chromosome.
ID	http://purl.obolibrary.org/obo/MONDO_0000761
comment	Editor note: this is used in DOID to encompass typically partial deletions
has_exact_synonym	microdeletion syndrome
has_related_synonym	chromosomal deletion syndrome
label	syndrome caused by partial chromosomal deletion
prefixIRI	MONDO:0000761
prefLabel	syndrome caused by partial chromosomal deletion
textual definition	A chromosomal disorder consisting of the absence of a part of a chromosome.
subClassOf	http://purl.obolibrary.org/obo/MONDO_0019040

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0000761	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0000761	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0000761	KTAO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0000761	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0000761	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0000761	KTAO	LOOM