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"

7 matching diseasesClear search ×

Epidermolysis bullosa simplex with muscular dystrophy

EBS-MD · Limb-girdle muscular dystrophy with epidermolysis bullosa simplex

ORPHA:257

Epidermolysis bullosa simplex

EBS

ORPHA:304

Epidermolysis bullosa simplex with circinate migratory erythema

EBS with circinate migratory erythema · EBS-migr

ORPHA:158681

Epidermolysis bullosa simplex with mottled pigmentation

EBS-MP · EBS with mottled pigmentation

ORPHA:79397

Epidermolysis bullosa simplex with pyloric atresia

EBS with pyloric atresia · EBS-PA

ORPHA:158684

Localized epidermolysis bullosa simplex

EBS-loc · Epidermolysis bullosa simplex of palms and soles

ORPHA:79400

Menkes disease

Menkes kinky hair disease · MD

ORPHA:565