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DO Term : autosomal dominant dystrophic epidermolysis bullosa [DOID:0080224] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An epidermolysis bullosa dystrophica that is characterized by recurrent blistering at the level of the lamina densa secondary to minor trauma, limited to the nails, hands, feet, knees, and elbows, and has_material_basis_in autosomal dominant inheritance of mutation in the COL7A1 gene, which encodes a protein that assists assembly of type VII collagen.
  • synonyms:
  • 131750,
  • OMIM:131750,
  • GARD:2139
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Disease

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Diseases --> Mouse genes

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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents