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"

11 matching diseasesClear search ×

Idiopathic pulmonary fibrosis

Idiopathic pulmonary fibrosis · IPF

ORPHA:2032

Hermansky-Pudlak syndrome due to BLOC-2 deficiency

HPS without pulmonary fibrosis · Hermansky-Pudlak syndrome without pulmonary fibrosis

ORPHA:231512

Hermansky-Pudlak syndrome due to BLOC-3 deficiency

HPS with pulmonary fibrosis · Hermansky-Pudlak syndrome with pulmonary fibrosis

ORPHA:231500

Idiopathic peliosis hepatis

Idiopathic peliosis hepatitis

ORPHA:480524

Idiopathic pleuroparenchymal fibroelastosis

IPPFE · Idiopathic pleuropulmonary fibroelastosis

ORPHA:494428

Idiopathic pulmonary arterial hypertension

IPAH · PAH

ORPHA:275766

Idiopathic pulmonary artery dilatation

ORPHA:1676

Idiopathic pulmonary hemosiderosis

ORPHA:99931

Idiopathic/heritable pulmonary arterial hypertension

Idiopathic and/or familial pulmonary arterial hypertension · PAH

ORPHA:422

IgG4-related retroperitoneal fibrosis

Ormond disease · Idiopathic retroperitoneal fibrosis

ORPHA:49041

Primary myelofibrosis

Agnogenic myeloid metaplasia · Idiopathic myelofibrosis

ORPHA:824