Experimental Factor Ontology

Last uploaded: November 18, 2024
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Preferred Name

hereditary photodermatosis
Synonyms

photogenodermatosis

photogénodermatose

genetic skin photosensitivity

genetic 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

UMLS:C5679594

MEDGEN:1842494

Orphanet:183490

GARD:20277
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.
exactMatch

http://purl.obolibrary.org/obo/Orphanet_183490

http://linkedlifedata.com/resource/umls/id/C5679594

http://identifiers.org/medgen/1842494
has_broad_synonym

photogenodermatosis

photogénodermatose
has_exact_synonym

genetic skin photosensitivity

genetic photosensitivity
id

MONDO:0015951
in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders

http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping

http://purl.obolibrary.org/obo/mondo/mondo-base#mondo_rare
label

hereditary photodermatosis
notation

MONDO:0015951
preferred label

hereditary photodermatosis
prefLabel

hereditary photodermatosis
subClassOf

http://purl.obolibrary.org/obo/MONDO_0100118
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