Experimental Factor Ontology

Last uploaded: October 15, 2024

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Preferred Name	DNA repair deficiency
Synonyms	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 DNA repair disorder disorder of DNA repair deficiency of DNA repair DNA repair disease
Definitions	DNA repair deficiency refers to any mutation in the repair mechanisms that leads to accumulation of DNA errors and carcinogenesis. A disease that has its basis in the disruption of DNA repair. A DNA repair-deficiency disorder is a medical condition due to reduced functionality of DNA repair.
ID	http://www.ebi.ac.uk/efo/EFO_0008499
comment	A DNA repair-deficiency disorder is a medical condition due to reduced functionality of DNA repair.
database_cross_reference	MONDO:0021190 UMLS:C0268134 MESH:D049914 MEDGEN:82774 NCIT:C7757 NCIt:C7757
definition	DNA repair deficiency refers to any mutation in the repair mechanisms that leads to accumulation of DNA errors and carcinogenesis. A disease that has its basis in the disruption of DNA repair.
definition_citation	https://doi.org/10.1007/s10689-016-9883-7
has_exact_synonym	DNA repair disorder disorder of DNA repair deficiency of DNA repair DNA repair disease
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
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/5666
id	EFO:0008499
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare
label	DNA repair deficiency
notation	EFO:0008499
preferred label	DNA repair deficiency
prefLabel	DNA repair deficiency
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
term editor	Laura Huerta
subClassOf	http://purl.obolibrary.org/obo/MONDO_0019052

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Mapping To	Ontology	Source
http://www.ebi.ac.uk/efo/EFO_0008499	CCONT	SAME_URI
http://doe-generated-ontology.com/OntoAD#C0268134	ONTOAD	LOOM
http://www.ebi.ac.uk/efo/EFO_0008499	CCONT	LOOM
http://purl.obolibrary.org/obo/DOID_2961	CLO	LOOM