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"

10,912 rare diseases

Idiopathic pulmonary artery dilatation

ORPHA:1676

Idiopathic pulmonary fibrosis

Idiopathic pulmonary fibrosis · IPF

ORPHA:2032

Idiopathic pulmonary hemosiderosis

ORPHA:99931

Idiopathic recurrent pericarditis

Idiopathic relapsing pericarditis

ORPHA:251307

Idiopathic recurrent stupor

ORPHA:276174

Idiopathic scleritis

ORPHA:648675

Idiopathic small fibers neuropathy

Idiopathic-SFN

ORPHA:658549

Idiopathic spontaneous coronary artery dissection

Idiopathic SCAD

ORPHA:458718

Idiopathic steroid-resistant nephrotic syndrome

Idiopathic SRNS

ORPHA:567548

Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy

Idiopathic steroid-resistant nephrotic syndrome with sensitivity to intensified immunosuppression

ORPHA:567552

Idiopathic steroid-sensitive nephrotic syndrome

ORPHA:69061

Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance

Idiopathic SSNS with secondary steroid resistance · Secondary steroid-resistant nephrotic syndrome

ORPHA:567546

Idiopathic subglottic stenosis

iSGS

ORPHA:652681

Idiopathic syringomyelia

ORPHA:99858

Idiopathic trachyonychia

ORPHA:79153

Idiopathic triglyceride deposit cardiomyovasculopathy

Idiopathic neutral lipid storage disease with severe cardiovascular involvement · I-TGCV

ORPHA:692296

Idiopathic uveal effusion syndrome

ORPHA:209956

Idiopathic ventricular fibrillation

ORPHA:228140

Idiopathic/heritable pulmonary arterial hypertension

Idiopathic and/or familial pulmonary arterial hypertension · PAH

ORPHA:422

IFIH1-related hereditary spastic paraplegia

Interferon induced with helicase C domain 1-related hereditary spastic paraplegia

ORPHA:689231

IgA Nephropathy

Berger disease · Berger's disease

ORPHA:93567

IgA pemphigus

ORPHA:555905

IgG4-related aortitis

ORPHA:449400

IgG4-related dacryoadenitis and sialadenitis

Chronic dacryoadenitis and sialadenitis · Mikulicz disease

ORPHA:79078

IgG4-related disease

IgG4-related sclerosing disease · Immunoglobulin G4-related sclerosing disease

ORPHA:284264

IgG4-related kidney disease

ORPHA:449395

IgG4-related mediastinitis

Fibrosing mediastinitis · Mediastinal fibrosis

ORPHA:63999

IgG4-related mesenteritis

Isolated mesenteric lipodystrophy · Lipomatous mesenteritis

ORPHA:238593

IgG4-related ophthalmic disease

ORPHA:449563

IgG4-related pachymeningitis

Idiopathic hypertrophic pachymeningitis

ORPHA:449427

IgG4-related retroperitoneal fibrosis

Ormond disease · Idiopathic retroperitoneal fibrosis

ORPHA:49041

IgG4-related sclerosing cholangitis

ORPHA:447764

IgG4-related submandibular gland disease

Küttner tumor

ORPHA:449432

IgG4-related systemic disease

ORPHA:596448

IgG4-related thyroid disease

Riedel disease · Riedel thyroiditis

ORPHA:64744

IL21-related infantile inflammatory bowel disease

IL21-related infantile IBD

ORPHA:477661

Ileal neuroendocrine tumor

Ileal neuroendocrine neoplasm

ORPHA:100078

Ileal pouch anal anastomosis related faecal incontinence

ORPHA:238621

Imagawa-Matsumoto syndrome

SUZ12-related overgrowth syndrome

ORPHA:659463

IMAGe syndrome

Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome

ORPHA:85173

Imerslund-Gräsbeck syndrome

Familial megaloblastic anemia · Selective cobalamin malabsorption with proteinuria

ORPHA:35858

Iminoglycinuria

ORPHA:42062

Immune complex mediated vasculitis

ORPHA:156149

Immune deficiency with skin involvement

ORPHA:79391

Immune dysregulation disease with immunodeficiency

ORPHA:169361

Immune dysregulation disease with immunodeficiency associated with EBV susceptibility

Immune dysregulation disease with immunodeficiency associated with Epstein-Barr virus susceptibility

ORPHA:664456

Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency

ORPHA:699590

Immune dysregulation-inflammatory bowel disease- recurrent sinopulmonary infections syndrome

NFAT5 haploinsufficiency

ORPHA:529980