General Information of Disease (ID: DISYJQB2)

Disease Name Hereditary photodermatosis
Synonyms photognodermatose; photogenodermatosis; genetic photosensitivity; genetic skin photosensitivity
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.
Disease Hierarchy
DISSCALK: Hereditary skin disorder
DISYJQB2: Hereditary photodermatosis
Disease Identifiers
MONDO ID
MONDO_0015951
UMLS CUI
C5679594
MedGen ID
1842494
Orphanet ID
183490