Term ID:
7417
Name:
Discoid lupus rash
Synonym:
Discoid lupus erythematosus
Definition:
Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy.
Comments:
Reference:
HP:0007417
Genes and Diseases: Child Nodes: Sister Nodes: ..Bull's eye rash (HP:0040325) ..Heliotrope rash (HP:0040324) ..Maculopapular exanthema (HP:0040186) ..Malar rash (HP:0025300) ..Morbilliform rash (HP:0012282) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HPO disease - gene - phenotype typical associations: HPO disease - gene - phenotype less frequent non-typical associations: HP:0007417 HP:0007417 Discoid lupus rash 0 CYBA CL E G H 1535 2577 OMIM:233690 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE . 27 HP:0007417 HP:0007417 Discoid lupus rash 0 CYBB CL E G H 1536 2578 OMIM:306400 Chronic granulomatous disease, X-linked . 111 HP:0007417 HP:0007417 Discoid lupus rash 0 IRAK1 CL E G H 3654 6112 ORPHA:93552 Pediatric systemic lupus erythematosus HP:0040283 - Occasional HP:0007417 HP:0007417 Discoid lupus rash 0 LEMD3 CL E G H 23592 28887 ORPHA:166119 Isolated osteopoikilosis 68 HP:0007417 HP:0007417 Discoid lupus rash 0 NCF1 CL E G H 653361 7660 OMIM:233700 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I . 13 HP:0007417 HP:0007417 Discoid lupus rash 0 NCF2 CL E G H 4688 7661 OMIM:233710 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II . 67 HP:0007417 HP:0007417 Discoid lupus rash 0 SPP1 CL E G H 6696 11255 ORPHA:93552 Pediatric systemic lupus erythematosus HP:0040283 - Occasional HP:0007417 HP:0007417 Discoid lupus rash 0 STAT4 CL E G H 6775 11365 ORPHA:93552 Pediatric systemic lupus erythematosus HP:0040283 - Occasional 2
Genes (8) :CYBA CYBB IRAK1 LEMD3 NCF1 NCF2 SPP1 STAT4 Diseases (6) :OMIM:233690 OMIM:306400 ORPHA:93552 ORPHA:166119 OMIM:233700 OMIM:233710
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.