Details of Disease

General Information of Disease (ID: DISSRQ6G)

Disease Name Epidermolysis bullosa with congenital localized absence of skin and deformity of nails
Synonyms epidermolysis bullosa dystrophica, Bart type; epidermolysis bullosa with congenital localized absence of skin and deformity of nails; EBD, Bart type
Disease Hierarchy
DISYKSRF: Genetic disease
DISSRQ6G: Epidermolysis bullosa with congenital localized absence of skin and deformity of nails
Disease Identifiers
MONDO ID
MONDO_0007557
MESH ID
C562638
UMLS CUI
C0268371
OMIM ID
132000
MedGen ID
82797
SNOMED CT ID
2689001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
COL7A1 TTBCOKN Strong Autosomal dominant [1]
COL7A1 TTBCOKN Strong Biomarker [2]
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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 Strong Autosomal dominant [1]
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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.
2 Epidermolysis bullosa pruriginosa: a case with prominent histopathologic inflammation.JAMA Dermatol. 2013 Jun;149(6):727-31. doi: 10.1001/jamadermatol.2013.155.