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"

7 matching diseasesClear search ×

Polycythemia vera

Acquired primary erythrocytosis · Osler-Vaquez disease

ORPHA:729

Periventricular nodular heterotopia

PVNH

ORPHA:98892

Primary vitreoretinal large B-cell lymphoma

PVLR · PVR-LBCL

ORPHA:695631

Pulmonary valve agenesis

Congenital absence of the pulmonary valve · PVA

ORPHA:982

Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome

APV/ADA, Fallot type · Absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome

ORPHA:101206

Tenosynovial giant cell tumor

TGCT · pigmented villonodular synovitis

ORPHA:ORPHA:66627

TRPV4-related bone disorder

ORPHA:364820