Details of Disease

General Information of Disease (ID: DIS8G58Y)

• Disease Name: Recessive dystrophic epidermolysis bullosa-generalized other
• Synonyms: recessive dystrophic epidermolysis bullosa, generalized intermediate; recessive dystrophic epidermolysis bullosa, generalised intermediate; RDEB, non-Hallopeau-Siemens type; RDEB generalisata mitis; generalized mitis RDEB; recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type; generalised mitis RDEB; autosomal recessive dystrophic epidermolysis bullosa generalisata mitis; RDEB-generalized other; RDEB-O; autosomal recessive dystrophic epidermolysis bullosa, generalised other; autosomal recessive dystrophic epidermolysis bullosa, generalized other; RDEB, generalized intermediate; RDEB, generalised intermediate
• Definition: Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.
• Disease Hierarchy:
  DISALMGH: Dystrophic epidermolysis bullosa
  DIS8G58Y: Recessive dystrophic epidermolysis bullosa-generalized other
• Disease Identifiers:
  MONDO ID: MONDO_0019522
  UMLS CUI: C4511044
  MedGen ID: 1392226
  Orphanet ID: 89842
  SNOMED CT ID: 725407006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
COL7A1	TTBCOKN	Supportive	Autosomal recessive	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL7A1	OT3MIRZJ	Supportive	Autosomal recessive	[1]

References

• [1] Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.