Jump to:
loading...| Preferred Name | recessive dystrophic epidermolysis bullosa | |
| Synonyms |
|
|
| Definitions |
An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0060642 |
|
| definition |
An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21. |
|
| imported from | ||
| label |
recessive dystrophic epidermolysis bullosa |
|
| prefixIRI |
DOID:0060642 |
|
| prefLabel |
recessive dystrophic epidermolysis bullosa |
|
| subClassOf |
Create mapping