Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal cellular physiology (HP:0011017)

Parent Node:
Abnormality of DNA repair (HP:0003254)

..Starting node
..Defective DNA repair after ultraviolet radiation damage (HP:0003079)

Term ID:

3079

Name:

Defective DNA repair after ultraviolet radiation damage

Synonym:

Definition:

Comments:

Reference:

HP:0003079

Genes and Diseases:

Child Nodes:

Sister Nodes:

Defective interstrand cross-link repair (HP:0410166)

Deficient excision of UV-induced pyrimidine dimers in DNA (HP:0003213)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003079	HP:0003079	Defective DNA repair after ultraviolet radiation damage	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0003079	HP:0003079	Defective DNA repair after ultraviolet radiation damage	0	DDB2 CL E G H	1643	2718	OMIM:278740	Xeroderma pigmentosum, complementation group E	.	30
HP:0003079	HP:0003079	Defective DNA repair after ultraviolet radiation damage	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0003079	HP:0003079	Defective DNA repair after ultraviolet radiation damage	0	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D	.	106
HP:0003079	HP:0003079	Defective DNA repair after ultraviolet radiation damage	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0003079	HP:0003079	Defective DNA repair after ultraviolet radiation damage	0	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F	.	158
HP:0003079	HP:0003079	Defective DNA repair after ultraviolet radiation damage	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome		158
HP:0003079	HP:0003079	Defective DNA repair after ultraviolet radiation damage	0	ERCC5 CL E G H	2073	3437	OMIM:278780	Xeroderma pigmentosum, complementation group G	.	83
HP:0003079	HP:0003079	Defective DNA repair after ultraviolet radiation damage	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome	.	199
HP:0003079	HP:0003079	Defective DNA repair after ultraviolet radiation damage	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0003079	HP:0003079	Defective DNA repair after ultraviolet radiation damage	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0003079	HP:0003079	Defective DNA repair after ultraviolet radiation damage	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0003079	HP:0003079	Defective DNA repair after ultraviolet radiation damage	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0003079	HP:0003079	Defective DNA repair after ultraviolet radiation damage	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0003079	HP:0003079	Defective DNA repair after ultraviolet radiation damage	0	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A	.	34
HP:0003079	HP:0003079	Defective DNA repair after ultraviolet radiation damage	0	XPC CL E G H	7508	12816	OMIM:278720	Xeroderma pigmentosum, complementation group C	.	86

Genes (14) :CARS1 DDB2 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 GTF2E2 GTF2H5 MPLKIP RNF113A TARS1 XPA XPC

Diseases (9) :ORPHA:33364 OMIM:278740 OMIM:278730 OMIM:278760 OMIM:610965 OMIM:278780 OMIM:278800 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.

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