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

Mondo Disease Ontology

Last uploaded: July 7, 2026

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	DNA repair disorder disorder of DNA repair deficiency of DNA repair DNA repair deficiency disorders DNA Repairs, deficient DNA repair deficiency Repairs, deficient DNA syndromes, chromosome instability DNA repair-deficiency repair, deficient DNA chromosome instability syndromes deficient DNA repair DNA repair, deficient syndrome, chromosome instability deficient DNA Repairs DNA repair-deficiency disorder disorders, DNA repair-deficiency DNA repair-deficiencies chromosome instability syndrome disorder, DNA repair-deficiency 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
exactMatch	http://www.ebi.ac.uk/efo/EFO_0008499 http://identifiers.org/medgen/82774 http://identifiers.org/mesh/D049914 http://purl.obolibrary.org/obo/NCIT_C7757 http://linkedlifedata.com/resource/umls/id/C0268134
database_cross_reference	GARD:0025299 UMLS:C0268134 MESH:D049914 MEDGEN:82774 EFO:0008499 NCIT:C7757 See more See less
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/5666
notation	MONDO:0021190
in_subset	http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare
has_related_synonym	DNA repair deficiency disorders DNA Repairs, deficient DNA repair deficiency Repairs, deficient DNA syndromes, chromosome instability DNA repair-deficiency repair, deficient DNA chromosome instability syndromes deficient DNA repair DNA repair, deficient syndrome, chromosome instability deficient DNA Repairs DNA repair-deficiency disorder disorders, DNA repair-deficiency DNA repair-deficiencies chromosome instability syndrome disorder, DNA repair-deficiency See more See less
id	MONDO:0021190
subClassOf	http://purl.obolibrary.org/obo/MONDO_0019052
type	http://www.w3.org/2002/07/owl#Class
conformsTo	http://purl.obolibrary.org/obo/mondo/patterns/basis_in_disruption_of_process.yaml http://purl.obolibrary.org/obo/mondo/patterns/disrupts_process.yaml
has_exact_synonym	DNA repair disorder disorder of DNA repair deficiency of DNA repair

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