DNA repair disease
MONDO:0021190Mondo
Findings
No curated finding names DNA repair disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A disease that has its basis in the disruption of DNA repair.
Definition from the Mondo Disease Ontology (MONDO:0021190), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- UHRF1HGNC:12556
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
- Narrower terms (16)
- ataxia and polyneuropathy, adult-onset
- ataxia-telangiectasia-like disorder 1
- ataxia-telangiectasia-like disorder 2
- ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- Cockayne syndrome
- COFS syndrome
- Fanconi anemia
- karyomegalic interstitial nephritis
- mismatch repair cancer syndrome
- Nijmegen breakage syndrome
- Nijmegen breakage syndrome-like disorder
- photosensitive trichothiodystrophy
- severe combined immunodeficiency due to DCLRE1C deficiency
- spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
- UV-sensitive syndrome
- xeroderma pigmentosum
Other names
3 names
Resolves to: DNA repair disease
- Also called
- deficiency of DNA repairdisorder of DNA repairDNA repair disorder