Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023

Preferred Name	hereditary photodermatosis
Synonyms	genetic photosensitivity genetic skin photosensitivity photogénodermatose photogenodermatosis
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
has characteristic	http://purl.obolibrary.org/obo/MONDO_0021136
has_broad_synonym	photogénodermatose photogenodermatosis
has_exact_synonym	genetic photosensitivity genetic skin photosensitivity
label	hereditary photodermatosis
prefixIRI	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_0100118

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0015951	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0015951	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0015951	KTAO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0015951	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0015951	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0015951	KTAO	LOOM