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epidermolysis bullosa simplex with muscular dystrophy
Summary
- Synonym
-
- epidermolysis bullosa simplex and limb-girdle muscular dystrophy
- limb-girdle muscular dystrophy with epidermolysis bullosa simplex
- Definition
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0090017
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60568 | Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 |
