epidermolysis bullosa simplex with muscular dystrophy

Term ID

DOID:0090017

Synonyms

• 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. (2)

References

• ICD10CM:Q81.0
• OMIM:226670
• ORDO:257

Ontology

Human Disease   ( DOID:0090017 )