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:
Generalized abnormality of skin (HP:0011354)

Parent Node:
Cutaneous photosensitivity (HP:0000992)

..Starting node
..Severe photosensitivity (HP:0007537)

Term ID:

7537

Name:

Severe photosensitivity

Synonym:

Severe sun sensitivity

Definition:

A severe degree of photosensitivity of the skin.

Comments:

Reference:

HP:0007537

Genes and Diseases:

Child Nodes:

Sister Nodes:

Early cutaneous photosensitivity (HP:0007396)

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:0007537	HP:0007537	Severe photosensitivity	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0007537	HP:0007537	Severe photosensitivity	0	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease	HP:0040283 - Occasional	83
HP:0007537	HP:0007537	Severe photosensitivity	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040281 - Very frequent	29
HP:0007537	HP:0007537	Severe photosensitivity	0	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease	HP:0040283 - Occasional	77
HP:0007537	HP:0007537	Severe photosensitivity	0	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040281 - Very frequent	31
HP:0007537	HP:0007537	Severe photosensitivity	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040281 - Very frequent	41

Genes (6) :DHCR7 EPM2A GATA1 NHLRC1 UROD UROS

Diseases (4) :OMIM:270400 ORPHA:501 ORPHA:79277 ORPHA:95159

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