Mondo Disease Ontology - DNA repair disease - Classes | NCBO BioPortal

Mondo Disease Ontology

Last uploaded: March 4, 2025

Id	http://purl.obolibrary.org/obo/MONDO_0021190 http://purl.obolibrary.org/obo/MONDO_0021190
Preferred Name	DNA repair disease
Definitions	A disease that has its basis in the disruption of DNA repair.
Synonyms	deficient DNA Repairs disorder, DNA repair-deficiency DNA Repairs, deficient disorders, DNA repair-deficiency syndrome, chromosome instability repair, deficient DNA chromosome instability syndromes deficient DNA repair syndromes, chromosome instability DNA repair-deficiency disorder DNA repair deficiency disorders Repairs, deficient DNA DNA repair, deficient DNA repair-deficiencies chromosome instability syndrome DNA repair deficiency DNA repair-deficiency deficiency of DNA repair DNA repair disorder disorder of DNA repair See more See less
Type	http://www.w3.org/2002/07/owl#Class

definition	A disease that has its basis in the disruption of DNA repair.
label	DNA repair disease
prefLabel	DNA repair disease
database_cross_reference	NCIT:C7757 UMLS:C0268134 MESH:D049914 EFO:0008499 MEDGEN:82774
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/5666
notation	MONDO:0021190
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
has_related_synonym	deficient DNA Repairs disorder, DNA repair-deficiency DNA Repairs, deficient disorders, DNA repair-deficiency syndrome, chromosome instability repair, deficient DNA chromosome instability syndromes deficient DNA repair syndromes, chromosome instability DNA repair-deficiency disorder DNA repair deficiency disorders Repairs, deficient DNA DNA repair, deficient DNA repair-deficiencies chromosome instability syndrome DNA repair deficiency DNA repair-deficiency See more See less
id	MONDO:0021190
skos_exactMatch	http://identifiers.org/medgen/82774 http://identifiers.org/mesh/D049914 http://purl.obolibrary.org/obo/NCIT_C7757 http://purl.obolibrary.org/obo/EFO_0008499 http://linkedlifedata.com/resource/umls/id/C0268134
subClassOf	http://purl.obolibrary.org/obo/MONDO_0019052
terms_conformsTo	http://purl.obolibrary.org/obo/mondo/patterns/basis_in_disruption_of_process.yaml http://purl.obolibrary.org/obo/disrupts_process.yaml
type	http://www.w3.org/2002/07/owl#Class
has_exact_synonym	deficiency of DNA repair DNA repair disorder disorder of DNA repair
treeView	http://purl.obolibrary.org/obo/MONDO_0019052

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