Epidermolysis Bullosa Simplex With Muscular Dystrophy
Disease ID: disease_node_20254
Connections displayed (default: 10).
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| Dbxref | ICD10CM:Q81.0, MIM:226670, ORDO:257 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID |
| Synonyms | epidermolysis bullosa simplex and limb-girdle muscular dystrophy, limb-girdle muscular dystrophy with epidermolysis bullosa simplex |
| Doid Label | epidermolysis bullosa simplex with muscular dystrophy |
| Doid Description | An syndrome characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes and that has_material_basis_in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20254 |
| Doid Id | DOID_0090017 |
| Label | Epidermolysis Bullosa Simplex With Muscular Dystrophy |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)