Human Phenotype Ontology

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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:
Abnormal circulating pyrimidine concentration (HP:0004353)

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

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

Term ID:

3213

Name:

Deficient excision of UV-induced pyrimidine dimers in DNA

Synonym:

Definition:

Comments:

Reference:

HP:0003213

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

Defective interstrand cross-link repair (HP:0410166)

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:0003213	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA	0	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F		158
HP:0003213	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA	0	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.	340
HP:0003213	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C	.	410
HP:0003213	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2	.	147
HP:0003213	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA	0	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.	73

Genes (5) :ERCC4 FANCA FANCC FANCD2 FANCE

Diseases (5) :OMIM:278760 OMIM:227650 OMIM:227645 OMIM:227646 OMIM:600901

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