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 ×

Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome

Levic-Stefanovic-Nikolic syndrome

ORPHA:2743

Kumar-Levick syndrome

Nail dysplasia-camptodactyly-brachydactyly type B syndrome

ORPHA:2355

Neuromyelitis optica spectrum disorder

Devic disease · Devic syndrome

ORPHA:71211

Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies

Devic disease · Devic syndrome

ORPHA:592850

Neuromyelitis optica spectrum disorder with anti-MOG antibodies

Devic disease · Devic syndrome

ORPHA:592856

Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies

Devic disease · Devic syndrome

ORPHA:592869