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"

8 matching diseasesClear search ×

Epidermolysis bullosa simplex with extracutaneous involvement

EBS with extracutaneous involvement

ORPHA:595351

Congenital disorder of glycosylation with hepatic involvement

CDG with hepatic involvement

ORPHA:371157

Congenital disorder of glycosylation with intestinal involvement

CDG with intestinal involvement

ORPHA:371188

Congenital disorder of glycosylation with skin involvement

CDG with skin involvement

ORPHA:371200

Epidermolysis bullosa simplex without extracutaneous involvement

EBS without extracutaneous involvement

ORPHA:595346

Mucopolysaccharidosis with skin involvement

MPS with skin involvement

ORPHA:79388

Multifocal infantile hemangioma with extracutenous involvement

Diffuse neonatal hemangiomatosis

ORPHA:2123

PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement

PLEC-related intermediate EBS without extracutaneous involvement

ORPHA:79401