Human Phenotype Ontology 
Grandparent Node:
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Abnormality of metabolism/homeostasis (HP:0001939)help
Parent Node:
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Abnormal cellular physiology (HP:0011017)help
..Starting node
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Abnormality of DNA repair (HP:0003254)help
Term ID: 3254
Name: Abnormality of DNA repair
Synonym:
Definition: An abnormality of the process of DNA repair, that is, of the process of restoring DNA after damage.
Comments:
Reference: HP:0003254
Genes and Diseases:
 
       Child Nodes:
........expandDefective DNA repair after ultraviolet radiation damage (HP:0003079) help
........expandDeficient excision of UV-induced pyrimidine dimers in DNA (HP:0003213) help
........expandDefective interstrand cross-link repair (HP:0410166) help

 Sister Nodes: 
..expandAbnormality of B cell physiology (HP:0005372) help
..expandAbnormality of chromosome condensation (HP:0011019) help
..expandAbnormality of chromosome segregation (HP:0002916) help
..expandAbnormality of chromosome stability (HP:0003220) help
..expandAbnormality of lysosomal metabolism (HP:0004356) help
..expandAbnormality of T cell physiology (HP:0011840) help
..expandAbnormality of the cell cycle (HP:0011018) help
..expandAbnormality of the mitochondrion (HP:0012103) help
..expandIncreased cellular sensitivity to UV light (HP:0003224) help
..expandIncreased sensitivity to ionizing radiation (HP:0011133) help
..expandIntracellular accumulation of autofluorescent lipopigment storage material (HP:0003204) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003254HP:0003254Abnormality of DNA repair0CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0003254HP:0003254Abnormality of DNA repair0DDB2 CL E G H16432718OMIM:278740Xeroderma pigmentosum, complementation group E30
HP:0003254HP:0003254Abnormality of DNA repair0ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0003254HP:0003254Abnormality of DNA repair0ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group D106
HP:0003254HP:0003254Abnormality of DNA repair0ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0003254HP:0003254Abnormality of DNA repair0ERCC4 CL E G H20723436OMIM:278760Xeroderma pigmentosum, complementation group F158
HP:0003254HP:0003254Abnormality of DNA repair0ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome158
HP:0003254HP:0003254Abnormality of DNA repair0ERCC5 CL E G H20733437OMIM:278780Xeroderma pigmentosum, complementation group G83
HP:0003254HP:0003254Abnormality of DNA repair0ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome199
HP:0003254HP:0003254Abnormality of DNA repair0FANCA CL E G H21753582OMIM:227650Fanconi anemia340
HP:0003254HP:0003254Abnormality of DNA repair0FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C410
HP:0003254HP:0003254Abnormality of DNA repair0FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0003254HP:0003254Abnormality of DNA repair0FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E73
HP:0003254HP:0003254Abnormality of DNA repair0GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0003254HP:0003254Abnormality of DNA repair0GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0003254HP:0003254Abnormality of DNA repair0MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0003254HP:0003254Abnormality of DNA repair0RNF113A CL E G H773712974ORPHA:33364Trichothiodystrophy3
HP:0003254HP:0003254Abnormality of DNA repair0TARS1 CL E G H689711572ORPHA:33364Trichothiodystrophy
HP:0003254HP:0003254Abnormality of DNA repair0XPA CL E G H750712814OMIM:278700Xeroderma pigmentosum, complementation group A34
HP:0003254HP:0003254Abnormality of DNA repair0XPC CL E G H750812816OMIM:278720Xeroderma pigmentosum, complementation group C86
HP:0003254HP:0410166Defective interstrand cross-link repair1 CL E G H
HP:0003254HP:0032189Cellular hypersensitivity to diepoxybutane1 CL E G H
HP:0003254HP:0032188Cellular hypersensitivity to mitomycin C1 CL E G H
HP:0003254HP:0003079Defective DNA repair after ultraviolet radiation damage1CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0003254HP:0003079Defective DNA repair after ultraviolet radiation damage1DDB2 CL E G H16432718OMIM:278740Xeroderma pigmentosum, complementation group E.30
HP:0003254HP:0003079Defective DNA repair after ultraviolet radiation damage1ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0003254HP:0003079Defective DNA repair after ultraviolet radiation damage1ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group D.106
HP:0003254HP:0003079Defective DNA repair after ultraviolet radiation damage1ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0003254HP:0003079Defective DNA repair after ultraviolet radiation damage1ERCC4 CL E G H20723436OMIM:278760Xeroderma pigmentosum, complementation group F.158
HP:0003254HP:0003213Deficient excision of UV-induced pyrimidine dimers in DNA1ERCC4 CL E G H20723436OMIM:278760Xeroderma pigmentosum, complementation group F158
HP:0003254HP:0003079Defective DNA repair after ultraviolet radiation damage1ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome158
HP:0003254HP:0003079Defective DNA repair after ultraviolet radiation damage1ERCC5 CL E G H20733437OMIM:278780Xeroderma pigmentosum, complementation group G.83
HP:0003254HP:0003079Defective DNA repair after ultraviolet radiation damage1ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome.199
HP:0003254HP:0003213Deficient excision of UV-induced pyrimidine dimers in DNA1FANCA CL E G H21753582OMIM:227650Fanconi anemia.340
HP:0003254HP:0003213Deficient excision of UV-induced pyrimidine dimers in DNA1FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C.410
HP:0003254HP:0003213Deficient excision of UV-induced pyrimidine dimers in DNA1FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2.147
HP:0003254HP:0003213Deficient excision of UV-induced pyrimidine dimers in DNA1FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E.73
HP:0003254HP:0003079Defective DNA repair after ultraviolet radiation damage1GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0003254HP:0003079Defective DNA repair after ultraviolet radiation damage1GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0003254HP:0003079Defective DNA repair after ultraviolet radiation damage1MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0003254HP:0003079Defective DNA repair after ultraviolet radiation damage1RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0003254HP:0003079Defective DNA repair after ultraviolet radiation damage1TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0003254HP:0003079Defective DNA repair after ultraviolet radiation damage1XPA CL E G H750712814OMIM:278700Xeroderma pigmentosum, complementation group A.34
HP:0003254HP:0003079Defective DNA repair after ultraviolet radiation damage1XPC CL E G H750812816OMIM:278720Xeroderma pigmentosum, complementation group C.86


Genes (18) :CARS1 DDB2 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 FANCA FANCC FANCD2 FANCE GTF2E2 GTF2H5 MPLKIP RNF113A TARS1 XPA XPC

Diseases (13) :ORPHA:33364 OMIM:278740 OMIM:278730 OMIM:278760 OMIM:610965 OMIM:278780 OMIM:278800 OMIM:227650 OMIM:227645 OMIM:227646 OMIM:600901 OMIM:278700 OMIM:278720
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.