erythrokeratodermia variabilis et progressiva 3
Information
- Disease name
- erythrokeratodermia variabilis et progressiva 3
- Disease ID
- DOID:0080249
- Description
- "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." [url:https\://pubmed.ncbi.nlm.nih.gov/25398053/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0050467
- Cross Reference ID (Disease Ontology)
- MIM:617525