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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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q06136 | 3-ketodihydrosphingosine reductase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001249 | Intellectual disability |
| HP:0000252 | Microcephaly |
| HP:0001596 | Alopecia |
| HP:0000411 | Protruding ear |
| HP:0000992 | Cutaneous photosensitivity |
| HP:0004322 | Short stature |
| HP:0008069 | Neoplasm of the skin |
| HP:0000958 | Dry skin |
| HP:0001597 | Abnormality of the nail |
| HP:0001824 | Weight loss |
