/epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive

epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive

Rare Disease

MONDO:0014014

Also Known As

EBS-AR exophilin 5epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessiveepidermolysis bullosa simplex due to exophilin 5 deficiencyEBNSepidermolysis bullosa, nonspecific, autosomal recessive

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Associated Genes

EXPH5 ↗

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

External Resources

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epidermolysis bullosa simplex 1B, generalized intermediate

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epidermolysis bullosa simplex 5A, Ogna type

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epidermolysis bullosa simplex 2F, with mottled pigmentation

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epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive

Also Known As

Patient-Friendly Information

Associated Genes

External Resources

OMIM

Orphanet

GARD

Related Diseases