Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

5 matching diseasesClear search ×

Dystrophic epidermolysis bullosa

DEB · Dermolytic epidermolysis bullosa

ORPHA:303

Dystrophic epidermolysis bullosa pruriginosa

DEB pruriginosa · DEB-Pr

ORPHA:89843

Localized dystrophic epidermolysis bullosa, pretibial form

DEB-Pt · Localized DEB, pretibial form

ORPHA:79410

Glycogen storage disease due to glycogen debranching enzyme deficiency

GSDIII · Glycogen storage disease type 3

ORPHA:366

OBSOLETE: Developmental delay-deafness syndrome, Hildebrand type

ORPHA:163988