loading...| Preferred Name |
epidermolysis bullosa with congenital localized absence of skin and deformity of nails |
| Synonyms |
EBD, Bart type |
| Definitions |
An autosomal dominant dystrophic epidermolysis bullosa characterized by severe blistering of skin and mucous membranes, congenital absence of skin on the lower extremities and congenital absence or deformity of nails that has_material_basis_in heterozygous mutation in the COL7A1 gene on chromosome 3p21.31. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111347 |
| database_cross_reference |
MESH:C562638 OMIM:132000 |
| definition |
An autosomal dominant dystrophic epidermolysis bullosa characterized by severe blistering of skin and mucous membranes, congenital absence of skin on the lower extremities and congenital absence or deformity of nails that has_material_basis_in heterozygous mutation in the COL7A1 gene on chromosome 3p21.31. |
| disease has basis in | |
| has exact synonym |
EBD, Bart type epidermolysis bullosa dystrophica, Bart type |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111347 |
| label |
epidermolysis bullosa with congenital localized absence of skin and deformity of nails |
| notation |
DOID:0111347 |
| prefLabel |
epidermolysis bullosa with congenital localized absence of skin and deformity of nails |
| subClassOf |
http://purl.obolibrary.org/obo/DOID_0050736 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C562638 | Medical Subject Headings | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/132000 | Online Mendelian Inheritance in Man | LOOM |