OBO ID: DOID:0090017 |
Term Name: | epidermolysis bullosa simplex with muscular dystrophy | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0090017 ) |
OTHER epidermolysis bullosa simplex with muscular dystrophy PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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