| Metadata | |
|---|---|
| ID | DOID:0080511 |
| PURL | http://purl.obolibrary.org/obo/DOID_0080511 Copy |
| Name | generalized intermediate epidermolysis bullosa simplex 1B |
| Definition | An epidermolysis bullosa simplex that is characterized by widespread blisters that appear at birth or in early infancy and has_material_basis_in heterozygous mutation in the KRT14 gene 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 generalized type [EXACT] epidermolysis bullosa simplex Koebner type [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
existence starts during some Infantile onset has material basis in some autosomal dominant inheritance existence starts during some Congenital onset |