| Metadata | |
|---|---|
| ID | DOID:0080510 |
| PURL | http://purl.obolibrary.org/obo/DOID_0080510 Copy |
| Name | epidermolysis bullosa simplex 1C |
| Definition | An epidermolysis bullosa simplex that is characterized by skin blistering that begins anytime between childhood and adulthood and is usually limited to the hands and feet and that has_material_basis_in heterozygous mutation in the keratin-14 gene (KRT14) on chromosome 17q21. https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex#resources, https://pubmed.ncbi.nlm.nih.gov/32017015/ |
| Xrefs | |
| Synonyms |
epidermolysis bullosa simplex localized type [EXACT] epidermolysis bullosa simplex Weber-Cockayne type [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |