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 ×

Omsk hemorrhagic fever

ORPHA:319266

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye syndrome

ORPHA:1183

Blomstrand lethal chondrodysplasia

BLC · BOCD

ORPHA:50945

Drug reaction with eosinophilia and systemic symptoms

DRESS syndrome · Drug rash with eosinophilia and systemic symptoms

ORPHA:139402

Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms

ORPHA:90399

Rothmund-Thomson syndrome

Poikiloderma of Rothmund-Thomson · RTS

ORPHA:2909

Rothmund-Thomson syndrome type 1

Poikiloderma of Rothmund-Thomson type 1 · RTS1

ORPHA:221008

Rothmund-Thomson syndrome type 2

Poikiloderma of Rothmund-Thomson type 2 · RTS2

ORPHA:221016

Thomsen and Becker disease

Myotonia congenita

ORPHA:614