Disease #01315 (epidermolysis bullosa, congenital localized absence of skin and nail deformity (EBD Bart type), OMIM:132000)

Official abbreviation -
Name epidermolysis bullosa, congenital localized absence of skin and nail deformity (EBD Bart type)
OMIM ID 132000
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 8
Phenotype entries for this disease 8
Associated with 1 gene COL7A1
Associated tissues -
Disease features -
Remarks -


Individuals

8 entries on 1 page. Showing entries 1 - 8.
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00248935 - - - - - - - - 0 - - epidermolysis bullosa, congenital localized absence of skin and nail deformity (EBD Bart type) nails only COL7A1 COL7A1 1 1 Peter van den Akker
00248936 - - - - - - - - 0 - - epidermolysis bullosa, congenital localized absence of skin and nail deformity (EBD Bart type) nails only COL7A1 COL7A1 1 1 Peter van den Akker
00248951 - - - - - - - - 0 - - epidermolysis bullosa, congenital localized absence of skin and nail deformity (EBD Bart type) nails only COL7A1 COL7A1 1 1 Peter van den Akker
00248952 - - - - - - - - 0 - - epidermolysis bullosa, congenital localized absence of skin and nail deformity (EBD Bart type) nails only COL7A1 COL7A1 1 1 Peter van den Akker
00248953 - - - - - - - - 0 - - epidermolysis bullosa, congenital localized absence of skin and nail deformity (EBD Bart type) nails only COL7A1 COL7A1 1 1 Peter van den Akker
00248969 - - - - - - - - 0 - - epidermolysis bullosa, congenital localized absence of skin and nail deformity (EBD Bart type) nails only COL7A1 COL7A1 1 1 Peter van den Akker
00306184 82 - - F - China - - - - - epidermolysis bullosa, congenital localized absence of skin and nail deformity (EBD Bart type) - COL7A1 COL7A1 1 1 Sha Hong
00380780 ? PubMed: Nair 2018 - ? - Lebanon - - 0 - - epidermolysis bullosa, congenital localized absence of skin and nail deformity (EBD Bart type) Epidermolysis bullosa (Dermatological) - COL7A1 1 1 LOVD
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