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Dowling-Degos disease
Summary
- Synonym
-
- dark dot disease
- reticular pigment anomaly of flexures
- Definition
- A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases.
- Super Class
- pigmentation disease
External Links
- Disease Ontology
- DOID:0060256
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P16112 | Aggrecan core protein | |
| P21964 | Catechol O-methyltransferase | |
| Q14055 | Collagen alpha-2(IX) chain | |
| Q8NBL1 | Protein O-glucosyltransferase 1 | |
| Q9H488 | GDP-fucose protein O-fucosyltransferase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0200040 | Epidermoid cyst |
| HP:0010610 | Palmar pits |
| HP:0000989 | Pruritus |
| HP:0007456 | Progressive reticulate hyperpigmentation |
| HP:0012855 | Scrotal hyperpigmentation |
| HP:0007588 | Reticular hyperpigmentation |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0007502 | Follicular hyperkeratosis |
| HP:0009719 | Hypomelanotic macule |
| HP:0003581 | Adult onset |
