Epidermolytic Hyperkeratosis 1
Disease ID: disease_node_19968
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| Dbxref | MIM:113800, ORDO:312 |
|---|---|
| Subclassof | DOID_0050736, DOID_4603 |
| Data Source | DOID |
| Doid Label | epidermolytic hyperkeratosis 1 |
| Doid Description | An epidermolytic hyperkeratosis that is characterized in adulthood by warty flexural hyperkeratosis with fewer erosions and blisters and that usually presents at birth with erythema and blistering and that has_material_basis_in heterozygous mutation in the keratin-1 gene (KRT1) on chromosome 12q13. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_19968 |
| Doid Id | DOID_0081358 |
| Label | Epidermolytic Hyperkeratosis 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Hyperkeratosis, Epidermolytic(ID:disease_node_9179) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)