Details of Disease

General Information of Disease (ID: DISI80OT)

• Disease Name: Epidermolysis bullosa simplex 1B, generalized intermediate
• Synonyms: generalised EBS; generalized EBS; epidermolysis bullosa simplex, generalized non-Dowling-Meara; epidermolysis bullosa simplex, generalised non-Dowling-Meara; epidermolysis bullosa simplex, generalized; epidermolysis bullosa simplex, generalised; EBS, generalized; EBS-K; epidermolysis bullosa simplex, generalised intermediate; EBS, generalised; epidermolysis bullosa simplex, generalized intermediate; generalised EBS, non-Dowling-Meara type; epidermolysis bullosa simplex, Kbner type; EBS, generalized intermediate; epidermolysis bullosa simplex 1B, generalized intermediate; epidermolysis bullosa simplex, Kobner type; generalized epidermolysis bullosa simplex, non-Dowling-Meara type; epidermolysis bullosa simplex, Koebner type; generalized EBS, non-Dowling-Meara type; generalised epidermolysis bullosa simplex, non-Dowling-Meara type; EBS, generalised intermediate
• Definition: Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kobner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction.
• Disease Hierarchy:
  DIS2CZ6X: Epidermolysis bullosa simplex
  DISI80OT: Epidermolysis bullosa simplex 1B, generalized intermediate
• Disease Identifiers:
  MONDO ID: MONDO_0007554
  UMLS CUI: C5561924
  OMIM ID: 131900
  MedGen ID: 1794134
  Orphanet ID: 79399

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KRT14	OTUVZ1DW	Strong	Autosomal dominant	[1]
KRT5	OTVGI9HT	Strong	Autosomal dominant	[1]

References

• [1] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.