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erythrokeratodermia variabilis et progressiva 3
Summary
- Definition
- An erythrokeratodermia variabilis that is characterized by normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema and that has_material_basis_in heterozygous mutation in the gene encoding connexin-43 (GJA1) on chromosome 6q22.
- Super Class
- autosomal dominant disease erythrokeratodermia variabilis
External Links
- Disease Ontology
- DOID:0080249
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001595 | Abnormal hair morphology |
| HP:0000958 | Dry skin |
| HP:0007957 | Corneal opacity |
| HP:0000411 | Protruding ear |
| HP:0002230 | Generalized hirsutism |
| HP:0012733 | Macule |
| HP:0001034 | Hypermelanotic macule |
| HP:0000252 | Microcephaly |
| HP:0001182 | Tapered finger |
| HP:0005588 | Patchy palmoplantar hyperkeratosis |
