loading...| Preferred Name | Epidermolysis bullosa, lethal acantholytic | |
| Synonyms |
EBLA |
|
| Definitions |
(EBLA) - A form of epidermolysis bullosa characterized by severe fragility of skin and mucous membranes. The phenotype is lethal in the neonatal period because of immense transcutaneous fluid loss. Typical features include universal alopecia, neonatal teeth, and nail loss. Histopathology of the skin shows suprabasal clefting and acantholysis throughout the spinous layer, mimicking pemphigus. |
|
| ID |
http://identifiers.org/omim/609638 |
|
| altLabel |
EBLA |
|
| definition |
(EBLA) - A form of epidermolysis bullosa characterized by severe fragility of skin and mucous membranes. The phenotype is lethal in the neonatal period because of immense transcutaneous fluid loss. Typical features include universal alopecia, neonatal teeth, and nail loss. Histopathology of the skin shows suprabasal clefting and acantholysis throughout the spinous layer, mimicking pemphigus. |
|
| id |
OMIM:609638 |
|
| notation |
OMIM:609638 |
|
| prefLabel |
Epidermolysis bullosa, lethal acantholytic |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://identifiers.org/omim/609638 | GEXO | SAME_URI | |
| http://identifiers.org/omim/609638 | RETO | SAME_URI | |
| http://identifiers.org/omim/609638 | GEXO | LOOM | |
| http://identifiers.org/omim/609638 | RETO | LOOM | |
| http://purl.bioontology.org/ontology/MESH/C535493 | MESH | LOOM | |
| http://phenomebrowser.net/ontologies/mesh/mesh.owl#C535493 | RH-MESH | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/609638 | OMIM | LOOM | |
| http://purl.obolibrary.org/obo/OMIM_609638 | CCO | LOOM |