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epidermolysis bullosa simplex 7, with nephropathy and deafness | RareConnect | RareConnect.io

/epidermolysis bullosa simplex

/epidermolysis bullosa simplex 7, with nephropathy and deafness

epidermolysis bullosa simplex 7, with nephropathy and deafness

Rare Disease

MONDO:0012190

Also Known As

epidermolysis bullosa simplex 7, with nephropathy and deafnessnephrotic syndrome - deafness - pretibial epidermolysis bullosa syndromenephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndromenephropathy with pretibial epidermolysis bullosa and deafness

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:609057 ↗

Orphanet

Orphanet:300333 ↗

GARD

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