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 ]
Synonyms: genetic photosensitivity genetic skin photosensitivity
Term information
- MEDGEN:1842494 (MONDO:equivalentTo)
- GARD:20277 (MONDO:GARD)
- UMLS:C5679594 (MONDO:equivalentTo)
- Orphanet:183490 (MONDO:equivalentTo)
matrix_llm__is_cancer_other, gard_rare, matrix_llm__is_glucose_dysfunction_other, matrix_excluded, otar, disease_grouping, matrix_llm__tag_qualy_lost_other, mondo_top_grouping_integumentary_system_disorder, mondo_top_grouping_member, matrix_llm__txgnn_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, mondo_rare, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, harrisons_view_member, harrisons_view_hereditary_disease, ordo_group_of_disorders, harrisons_view_integumentary_system_disorder
http://identifiers.org/medgen/1842494
http://www.orpha.net/ORDO/Orphanet_183490
http://linkedlifedata.com/resource/umls/id/C5679594