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]. It draws 1 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #135 of 308).[2]
Key Facts
- epidermolysis bullosa simplex with muscular dystrophy's instance of is recorded as developmental defect during embryogenesis[3].
- epidermolysis bullosa simplex with muscular dystrophy's instance of is recorded as class of disease[4].
- epidermolysis bullosa simplex with muscular dystrophy's subclass of is recorded as epidermolysis bullosa simplex[5].
- epidermolysis bullosa simplex with muscular dystrophy's subclass of is recorded as autosomal recessive disease[6].
- epidermolysis bullosa simplex with muscular dystrophy's subclass of is recorded as malformation syndrome with skin/mucosae involvement[7].
- epidermolysis bullosa simplex with muscular dystrophy's subclass of is recorded as hereditary epidermolysis bullosa associated with ocular features[8].
- epidermolysis bullosa simplex with muscular dystrophy's subclass of is recorded as basal epidermolysis bullosa simplex[9].
- epidermolysis bullosa simplex with muscular dystrophy's subclass of is recorded as qualitative or quantitative defects of plectin[10].
- epidermolysis bullosa simplex with muscular dystrophy's subclass of is recorded as autosomal recessive limb-girdle muscular dystrophy[11].
- epidermolysis bullosa simplex with muscular dystrophy's subclass of is recorded as syndrome[12].
- epidermolysis bullosa simplex with muscular dystrophy's MeSH descriptor ID is recorded as C535955[13].
- epidermolysis bullosa simplex with muscular dystrophy's OMIM ID is recorded as 226670[14].
- epidermolysis bullosa simplex with muscular dystrophy's Disease Ontology ID is recorded as DOID:0090017[15].
- epidermolysis bullosa simplex with muscular dystrophy's Orphanet ID is recorded as 257[16].
- epidermolysis bullosa simplex with muscular dystrophy's health specialty is recorded as medical genetics[17].
- epidermolysis bullosa simplex with muscular dystrophy's genetic association is recorded as PLEC[18].
- epidermolysis bullosa simplex with muscular dystrophy's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0090017[19].
- epidermolysis bullosa simplex with muscular dystrophy's exact match is recorded as http://identifiers.org/doid/DOID:0090017[20].
- epidermolysis bullosa simplex with muscular dystrophy's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_257[21].
- epidermolysis bullosa simplex with muscular dystrophy's UMLS CUI is recorded as C2931072[22].
- epidermolysis bullosa simplex with muscular dystrophy's ICD-10-CM is recorded as Q81.0[23].
- epidermolysis bullosa simplex with muscular dystrophy's GARD rare disease ID is recorded as 2137[24].
- epidermolysis bullosa simplex with muscular dystrophy's on focus list of Wikimedia project is recorded as WikiProject Medicine[25].
- epidermolysis bullosa simplex with muscular dystrophy's Mondo ID is recorded as MONDO_0009181[26].
- epidermolysis bullosa simplex with muscular dystrophy's ICD-11 ID is recorded as 1570061817[27].
Why It Matters
epidermolysis bullosa simplex with muscular dystrophy draws 1 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #135 of 308).[2]