Kidney Tissue Atlas Ontology

Last uploaded: March 16, 2024
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Preferred Name

hereditary photodermatosis
Synonyms

photogénodermatose

photogenodermatosis

genetic photosensitivity

genetic skin photosensitivity
Definitions

Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies.
ID

http://purl.obolibrary.org/obo/MONDO_0015951
database_cross_reference

Orphanet:183490
disease has feature

http://purl.obolibrary.org/obo/HP_0000992
exactMatch

http://www.orpha.net/ORDO/Orphanet_183490
has broad synonym

photogénodermatose

photogenodermatosis
has exact synonym

genetic photosensitivity

genetic skin photosensitivity
has modifier

http://purl.obolibrary.org/obo/MONDO_0021136
id

MONDO:0015951
imported from

http://purl.obolibrary.org/obo/mondo.owl
in_subset

http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_group_of_disorders
label

hereditary photodermatosis
notation

MONDO:0015951
prefLabel

hereditary photodermatosis
textual definition

Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies.
subClassOf

http://purl.obolibrary.org/obo/MONDO_0024255
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