epidermolysis bullosa simplex with muscular dystrophy
autosomal recessive disease characterized 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
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epidermolysis bullosa simplex with muscular dystrophy
Summary
epidermolysis bullosa simplex with muscular dystrophy is a developmental defect during embryogenesis[1].
Key Facts
- epidermolysis bullosa simplex with muscular dystrophy's instance of is recorded as developmental defect during embryogenesis[2].
- epidermolysis bullosa simplex with muscular dystrophy's instance of is recorded as class of disease[3].
- epidermolysis bullosa simplex with muscular dystrophy is a type of epidermolysis bullosa simplex[4].
- epidermolysis bullosa simplex with muscular dystrophy is a type of autosomal recessive disease[5].
- epidermolysis bullosa simplex with muscular dystrophy is a type of malformation syndrome with skin/mucosae involvement[6].
- epidermolysis bullosa simplex with muscular dystrophy is a type of hereditary epidermolysis bullosa associated with ocular features[7].
- epidermolysis bullosa simplex with muscular dystrophy is a type of basal epidermolysis bullosa simplex[8].
- epidermolysis bullosa simplex with muscular dystrophy is a type of qualitative or quantitative defects of plectin[9].
- epidermolysis bullosa simplex with muscular dystrophy is a type of autosomal recessive limb-girdle muscular dystrophy[10].
- epidermolysis bullosa simplex with muscular dystrophy is a type of syndrome[11].
- epidermolysis bullosa simplex with muscular dystrophy's health specialty is recorded as medical genetics[12].
- epidermolysis bullosa simplex with muscular dystrophy's genetic association is recorded as PLEC[13].
- epidermolysis bullosa simplex with muscular dystrophy's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0090017[14].
- epidermolysis bullosa simplex with muscular dystrophy's exact match is recorded as http://identifiers.org/doid/DOID:0090017[15].
- epidermolysis bullosa simplex with muscular dystrophy's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_257[16].
- epidermolysis bullosa simplex with muscular dystrophy's on focus list of Wikimedia project is recorded as WikiProject Medicine[17].