Epidermolysis Bullosa Simplex Ogna Type
Disease ID: disease_node_14235
Connections displayed (default: 10).
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| Dbxref | ICD10CM:Q81.0, MIM:131950, ORDO:79401 |
|---|---|
| Subclassof | DOID_0050736, DOID_4644 |
| Data Source | DOID |
| Synonyms | EBS-O, EBS-Og, EBSOG |
| Doid Label | epidermolysis bullosa simplex Ogna type |
| Doid Description | An epidermolysis bullosa simplex characterized by skin blisters originating in the deepest areas of the basal cell cytoplasm just above the hemidesmosomes, skin bruising and that has_material_basis_in heterozygous mutation in the PLEC1 gene on chromosome 8q24. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_14235 |
| Doid Id | DOID_0060736 |
| Label | Epidermolysis Bullosa Simplex Ogna Type |
- Outgoing r'ship
SUBCLASS_OFto/from Epidermolysis Bullosa Simplex(ID:disease_node_8575) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)