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erythrokeratodermia variabilis et progressiva 1
Summary
- Definition
- An erythrokeratodermia variabilis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in GJB3 on 1p34.3.
- Super Class
- autosomal dominant disease autosomal recessive disease erythrokeratodermia variabilis
External Links
- Disease Ontology
- DOID:0111195
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q06136 | 3-ketodihydrosphingosine reductase | |
| Q9GZR5 | Very long chain fatty acid elongase 4 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0008066 | Abnormal blistering of the skin |
| HP:0000982 | Palmoplantar keratoderma |
| HP:0012733 | Macule |
| HP:0001156 | Brachydactyly |
| HP:0000518 | Cataract |
| HP:0004322 | Short stature |
| HP:0000035 | Abnormal testis morphology |
| HP:0001595 | Abnormal hair morphology |
| HP:0007957 | Corneal opacity |
| HP:0000962 | Hyperkeratosis |
