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:
Abnormality of metabolism/homeostasis (HP:0001939)

Parent Node:
Abnormal cellular physiology (HP:0011017)

..Starting node
..Increased cellular sensitivity to UV light (HP:0003224)

Term ID:

3224

Name:

Increased cellular sensitivity to UV light

Synonym:

Definition:

Comments:

Reference:

HP:0003224

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of B cell physiology (HP:0005372)

Abnormality of chromosome condensation (HP:0011019)

Abnormality of chromosome segregation (HP:0002916)

Abnormality of chromosome stability (HP:0003220)

Abnormality of DNA repair (HP:0003254)

Abnormality of lysosomal metabolism (HP:0004356)

Abnormality of T cell physiology (HP:0011840)

Abnormality of the cell cycle (HP:0011018)

Abnormality of the mitochondrion (HP:0012103)

Increased sensitivity to ionizing radiation (HP:0011133)

Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)

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:0003224	HP:0003224	Increased cellular sensitivity to UV light	0	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B	.	54
HP:0003224	HP:0003224	Increased cellular sensitivity to UV light	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0003224	HP:0003224	Increased cellular sensitivity to UV light	0	ERCC6 CL E G H	2074	3438	OMIM:600630	Uv-Sensitive syndrome 1	.	199
HP:0003224	HP:0003224	Increased cellular sensitivity to UV light	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.	55
HP:0003224	HP:0003224	Increased cellular sensitivity to UV light	0	ERCC8 CL E G H	1161	3439	OMIM:614621	UV-sensitive syndrome 2	.	55
HP:0003224	HP:0003224	Increased cellular sensitivity to UV light	0	UVSSA CL E G H	57654	29304	OMIM:614640	Uv-Sensitive syndrome 3	.	3

Genes (4) :ERCC3 ERCC6 ERCC8 UVSSA

Diseases (6) :OMIM:610651 OMIM:133540 OMIM:600630 OMIM:216400 OMIM:614621 OMIM:614640

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