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erythrokeratodermia variabilis et progressiva 4
Summary
- Definition
- An erythrokeratodermia variabilis that is characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet and that has_material_basis_in compound heterozygous mutation in the KDSR gene on chromosome 18q21.
- Super Class
- autosomal recessive disease erythrokeratodermia variabilis
External Links
- Disease Ontology
- DOID:0080250
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q06136 | 3-ketodihydrosphingosine reductase |
- 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 |
| HP:0003577 | Congenital onset |
