JSON

hereditary photodermatosis

^ http://purl.obolibrary.org/obo/MONDO_0015951


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. [ https://pubmed.ncbi.nlm.nih.gov/27745641 ]

Term info

database cross reference
  • Orphanet:183490 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

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

has broad synonym

photogénodermatose, photogenodermatosis

has exact synonym

genetic photosensitivity, genetic skin photosensitivity

id

MONDO:0015951

Term relations