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"

59 matching diseasesClear search ×

Pinnae and external auditory canal anomaly

ORPHA:156243

Pinnae fistula or cyst

ORPHA:155838

Pneumonia caused by Pseudomonas aeruginosa infection

ORPHA:90066

Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome

Faulk-Epstein-Jones syndrome

ORPHA:2064

Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis

ORPHA:431353

Rare developmental defect with skin/mucosae involvement

ORPHA:139027

Saethre-Chotzen syndrome

ACS3 · Acrocephalosyndactyly type 3

ORPHA:794

Spondylo-megaepiphyseal-metaphyseal dysplasia

ORPHA:228387

Streptococcus pneumoniae-associated hemolytic uremic syndrome

S. pneumoniae-associated HUS · SP-HUS

ORPHA:544493

Vulvar intraepithelial neoplasia

VIN · Vulvar intraepithelial tumor

ORPHA:137583

Acquired angioedema

AAE · Acquired C1 inhibitor deficiency

ORPHA:91385