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Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy (MONDO:0009181)

A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy.

Overview

Category

Ontology ID

Internal:10424

Synonyms

EBS-MD

epidermolysis bullosa simplex 5B, with muscular dystrophy

epidermolysis bullosa simplex and limb-girdle muscular dystrophy

epidermolysis bullosa simplex with muscular dystrophy

limb-girdle muscular dystrophy with epidermolysis bullosa simplex

EBSMD

Epidermolysa bullosa simplex and limb girdle muscular dystrophy

Epidermolysa bullosa simplex with muscular dystrophy

MD-EBS

MDEBS

epidermolysis bullosa simplex - limb girdle muscular dystrophy

Mapped terms

DOID:0090017

GARD:0002137

MEDGEN:418981

MESH:C535955

NANDO:2201376

OMIM:226670

Orphanet:257

SCTID:723308003

UMLS:C2931072

Child terms

Unknown children.