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"

6 matching diseasesClear search ×

Spastic ataxia-corneal dystrophy syndrome

Bedouin spastic ataxia syndrome · Mousa-Al Din-Al Nassar syndrome

ORPHA:2572

Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome

Dinno syndrome

ORPHA:314002

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Cardiogenital syndrome · Malouf syndrome

ORPHA:2229

NAME syndrome

Nevi-atrial myxoma-myxoid neurofibromata-ephelides syndrome

ORPHA:623

Nodulosis-arthropathy-osteolysis syndrome

NAO syndrome

ORPHA:85196

Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome

Al Gazali-Nair syndrome

ORPHA:2773