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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:0001155 | Abnormality of the hand |
| HP:0001369 | Arthritis |
| HP:0000962 | Hyperkeratosis |
| HP:0002046 | Heat intolerance |
| HP:0001231 | Abnormal fingernail morphology |
| HP:0000464 | Abnormality of the neck |
| HP:0011354 | Generalized abnormality of skin |
| HP:0001034 | Hypermelanotic macule |
| HP:0200037 | Skin vesicle |
| HP:0009123 | Mixed hypo- and hyperpigmentation of the skin |
