loading...| Preferred Name | recessive dystrophic epidermolysis bullosa | |
| Synonyms |
severe generalized RDEB severe generalized recessive dystrophic epidermolysis bullosa RDEB, Hallopeau-Siemens type autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type autosomal recessive dystrophic epidermolysis bullosa generalisata gravis |
|
| 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 |
|
| alternative label |
severe generalized RDEB severe generalized recessive dystrophic epidermolysis bullosa RDEB, Hallopeau-Siemens type autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type autosomal recessive dystrophic epidermolysis bullosa generalisata gravis |
|
| database_cross_reference |
ICD10CM:Q81.2 MIM:226600 ORDO:79408 |
|
| 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. |
|
| has exact synonym |
RDEB, Hallopeau-Siemens type autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type autosomal recessive dystrophic epidermolysis bullosa generalisata gravis |
|
| has material basis in | ||
| has_narrow_synonym |
severe generalized RDEB severe generalized recessive dystrophic epidermolysis bullosa |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0060642 |
|
| in_subset | ||
| label |
recessive dystrophic epidermolysis bullosa |
|
| notation |
DOID:0060642 |
|
| prefLabel |
recessive dystrophic epidermolysis bullosa |
|
| subClassOf |