Mondo Disease Ontology

Last uploaded: December 3, 2024
Preferred Name

syndrome caused by partial chromosomal deletion
Synonyms

chromosomal deletion syndrome

microdeletion syndrome

Definitions

A chromosomal disorder consisting of the absence of a part of a chromosome. Editor note: this is used in DOID to encompass typically partial deletions

ID

http://purl.obolibrary.org/obo/MONDO_0000761

comment

Editor note: this is used in DOID to encompass typically partial deletions

database_cross_reference

DOID:0060388

definition

A chromosomal disorder consisting of the absence of a part of a chromosome.

has_exact_synonym

microdeletion syndrome

has_related_synonym

chromosomal deletion syndrome

id

MONDO:0000761

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-simple#otar

http://purl.obolibrary.org/obo/mondo/mondo-simple#rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare

label

syndrome caused by partial chromosomal deletion

notation

MONDO:0000761

prefLabel

syndrome caused by partial chromosomal deletion

skos_exactMatch

http://purl.obolibrary.org/obo/DOID_0060388

treeView

http://purl.obolibrary.org/obo/MONDO_0019040

subClassOf

http://purl.obolibrary.org/obo/MONDO_0019040

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