loading...| 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 |
|
| database_cross_reference |
Orphanet:183490 |
|
| disease has feature | ||
| exactMatch | ||
| has broad synonym |
photogénodermatose photogenodermatosis |
|
| has exact synonym |
genetic photosensitivity genetic skin photosensitivity |
|
| has modifier | ||
| id |
MONDO:0015951 |
|
| imported from | ||
| 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 |
| Delete | 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 | DOVES | 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 | DOVES | LOOM |