loading...| Preferred Name | pretibial dystrophic epidermolysis bullosa | |
| Synonyms |
dystrophic epidermolysis bullosa, pretibial epidermolysis bullosa, pretibial epidermolysis bullosa dystrophica, pretibial Deb, pretibial pretibial epidermolysis bullosa pretibial DEB DEB-Pt |
|
| Definitions |
Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0007552 |
|
| database_cross_reference |
MESH:C535494 ICD9:757.39 OMIM:131850 Orphanet:79410 GARD:2155 DOID:0080988 SCTID:67653003 |
|
| definition |
Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region. |
|
| exactMatch |
http://purl.obolibrary.org/obo/DOID_0080988 http://identifiers.org/snomedct/67653003 |
|
| has material basis in germline mutation in | ||
| has_exact_synonym |
pretibial DEB DEB-Pt |
|
| has_related_synonym |
dystrophic epidermolysis bullosa, pretibial epidermolysis bullosa, pretibial epidermolysis bullosa dystrophica, pretibial Deb, pretibial pretibial epidermolysis bullosa |
|
| id |
MONDO:0007552 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#otar |
|
| label |
pretibial dystrophic epidermolysis bullosa |
|
| notation |
MONDO:0007552 |
|
| prefLabel |
pretibial dystrophic epidermolysis bullosa |
|
| treeView | ||
| subClassOf |