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Disease Ontology Browser
epidermolysis bullosa simplex with muscular dystrophy (DOID:0090017)
Alliance: disease page
Synonyms: epidermolysis bullosa simplex and limb-girdle muscular dystrophy; limb-girdle muscular dystrophy with epidermolysis bullosa simplex
Alt IDs: OMIM:226670, ICD10CM:Q81.0, ORDO:257
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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory