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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:0000365 | Hearing impairment |
| HP:0001824 | Weight loss |
| HP:0030680 | Abnormal cardiovascular system morphology |
| HP:0001596 | Alopecia |
| HP:0000962 | Hyperkeratosis |
| HP:0008066 | Abnormal blistering of the skin |
| HP:0000501 | Glaucoma |
| HP:0004322 | Short stature |
| HP:0001156 | Brachydactyly |
