Details of Disease

General Information of Disease (ID: DISAPBS0)

Disease Name Dystrophic epidermolysis bullosa, nails only
Synonyms dominant dystrophic epidermolysis bullosa, nails only; DEB-na; nails-only DDEB; nails-only DEB
Definition Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB) that shows no blistering and that is characterized by dystrophic or absent nails.
Disease Hierarchy
DISALMGH: Dystrophic epidermolysis bullosa
DISAPBS0: Dystrophic epidermolysis bullosa, nails only
Disease Identifiers
MONDO ID
MONDO_0015553
UMLS CUI
C4302547
MedGen ID
928216
Orphanet ID
158676
SNOMED CT ID
722436002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
COL7A1 TTBCOKN Supportive Autosomal dominant [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COL7A1 OT3MIRZJ Supportive Autosomal dominant [1]
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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.