Disease #01315

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 -
Individuals reported having this disease 6
Phenotype entries for this disease 6
Associated with 1 gene COL7A1
Associated tissues -
Disease features -
Remarks -


Individuals

6 entries on 1 page. Showing entries 1 - 6.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
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
Legend