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"

27 matching diseasesClear search ×

Idiopathic small fibers neuropathy

Idiopathic-SFN

ORPHA:658549

Idiopathic achalasia

Achalasia cardia · Idiopathic achalasia of esophagus

ORPHA:930

Idiopathic aplastic anemia

Idiopathic bone marrow failure

ORPHA:88

Idiopathic avascular necrosis

Idiopathic AVN

ORPHA:399307

Idiopathic bronchiectasis

ORPHA:60033

Idiopathic camptocormia

Idiopathic camptocormism · Idiopathic progressive lumbar kyphosis

ORPHA:1320

Idiopathic catatonia

Isolated catatonia · Isolated catatonic syndrome

ORPHA:648919

Idiopathic ductopenia

Idiopathic adult ductopenia · IAD

ORPHA:480512

Idiopathic gastroparesis

ORPHA:558411

Idiopathic hypercalciuria

ORPHA:2197

Idiopathic hypersomnia

Idiopathic excessive sleepiness

ORPHA:33208

Idiopathic nephrotic syndrome

ORPHA:357502

Idiopathic non-lupus full-house nephropathy

Idiopathic non-lupus FHN

ORPHA:567544

Idiopathic optic perineuritis

Idiopathic OPN

ORPHA:499107

Idiopathic panuveitis

ORPHA:280921

Idiopathic peliosis hepatis

Idiopathic peliosis hepatitis

ORPHA:480524

Idiopathic recurrent stupor

ORPHA:276174

Idiopathic scleritis

ORPHA:648675

Idiopathic spontaneous coronary artery dissection

Idiopathic SCAD

ORPHA:458718

Idiopathic steroid-resistant nephrotic syndrome

Idiopathic SRNS

ORPHA:567548

Idiopathic subglottic stenosis

iSGS

ORPHA:652681

Idiopathic syringomyelia

ORPHA:99858

Idiopathic trachyonychia

ORPHA:79153

Moyamoya disease

Idiopathic Moyamoya disease

ORPHA:2573

Peeling skin syndrome

Deciduous skin · Familial continuous skin peeling syndrome

ORPHA:817

Primary myelofibrosis

Agnogenic myeloid metaplasia · Idiopathic myelofibrosis

ORPHA:824

Sporadic idiopathic steroid-resistant nephrotic syndrome

Sporadic idiopathic nephrosis

ORPHA:84271