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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:0001249 | Intellectual disability |
| HP:0200035 | Skin plaque |
| HP:0000958 | Dry skin |
| HP:0007400 | Irregular hyperpigmentation |
| HP:0000411 | Protruding ear |
| HP:0001824 | Weight loss |
| HP:0010783 | Erythema |
| HP:0000992 | Cutaneous photosensitivity |
| HP:0000252 | Microcephaly |
| HP:0001596 | Alopecia |
