Preferred Name |
hereditary photodermatosis |
|
Synonyms |
genetic skin photosensitivity genetic photosensitivity photogenodermatosis photogénodermatose |
|
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 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 | ||
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 |
|
label |
hereditary photodermatosis |
|
notation |
MONDO:0015951 |
|
prefLabel |
hereditary photodermatosis |
|
subClassOf |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.obolibrary.org/obo/MONDO_0015951 | MONDO | SAME_URI | |
http://purl.obolibrary.org/obo/MONDO_0015951 | DOVES | SAME_URI | |
http://purl.obolibrary.org/obo/MONDO_0015951 | KTAO | SAME_URI | |
http://purl.obolibrary.org/obo/MONDO_0015951 | MONDO | LOOM | |
http://purl.obolibrary.org/obo/MONDO_0015951 | DOVES | LOOM | |
http://purl.obolibrary.org/obo/MONDO_0015951 | KTAO | LOOM |