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epidermolysis bullosa simplex Ogna type

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering.
Uniprot Description A form of intraepidermal epidermolysis bullosa characterized by generalized skin bruising, skin fragility with non-scarring blistering and small hemorrhagic blisters on hands. At the ultrastructural level, it is differentiated from classical cases of K-EBS, WC-EBS and DM-EBS, by the occurrence of blisters originating in basal cells above hemidesmosomes, and abnormal hemidesmosome intracellular attachment plates.
Mondo Term and Equivalent IDs
MONDO:0007555:  epidermolysis bullosa simplex Ogna type
GARD:0002148: 
MESH:C535962: 
Orphanet:79401: 
SCTID:398071000: