Recessive Dystrophic Epidermolysis Bullosa
Disease ID: disease_node_14232
Connections displayed (default: 10).
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| Dbxref | ICD10CM:Q81.2, MIM:226600, ORDO:79408 |
|---|---|
| Subclassof | DOID_4959, DOID_0050737 |
| Data Source | DOID |
| Synonyms | RDEB, Hallopeau-Siemens type, autosomal recessive dystrophic epidermolysis bullosa generalisata gravis, autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type, severe generalized RDEB, severe generalized recessive dystrophic epidermolysis bullosa |
| Doid Label | recessive dystrophic epidermolysis bullosa |
| Doid Description | 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 Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_14232 |
| Doid Id | DOID_0060642 |
| Label | Recessive Dystrophic Epidermolysis Bullosa |
- Outgoing r'ship
SUBCLASS_OFto/from Epidermolysis Bullosa Dystrophica(ID:disease_node_8564) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)