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"

9 matching diseasesClear search ×

Cataract-aberrant oral frenula-growth delay syndrome

Wellesley-Carman-French syndrome

ORPHA:1373

Cancer-associated retinopathy

CAR syndrome · Paraneoplastic retinopathy

ORPHA:71505

Carney complex

Carney syndrome · Myxoma-spotty pigmentation-endocrine overactivity syndrome

ORPHA:1359

Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

COX deficiency, French-Canadian type · Cytochrome C oxidase deficiency, French-Canadian type

ORPHA:70472

Frey syndrome

Baillarger syndrome · Auriculotemporal syndrome

ORPHA:662240

Junctional epidermolysis bullosa with pyloric atresia

Carmi syndrome · JEB-PA

ORPHA:79403

Orofaciodigital syndrome type 3

OFD3 · Oral-facial-digital syndrome type 3

ORPHA:2752

Symphalangism with multiple anomalies of hands and feet

Learman syndrome

ORPHA:3246

Wells syndrome

Eosinophilic cellulitis

ORPHA:901