Rare Disease Library

Idiopathic recurrent stupor

Idiopathic scleritis

Idiopathic small fibers neuropathy

Idiopathic-SFN

Idiopathic spontaneous coronary artery dissection

Idiopathic SCAD

Idiopathic steroid-resistant nephrotic syndrome

Idiopathic SRNS

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

Idiopathic steroid-resistant nephrotic syndrome with sensitivity to intensified immunosuppression

Idiopathic steroid-sensitive nephrotic syndrome

Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance

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

Idiopathic subglottic stenosis

iSGS

Idiopathic syringomyelia

Idiopathic trachyonychia

Idiopathic triglyceride deposit cardiomyovasculopathy

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

Idiopathic uveal effusion syndrome

Idiopathic ventricular fibrillation

Idiopathic/heritable pulmonary arterial hypertension

Idiopathic and/or familial pulmonary arterial hypertension · PAH

Intractable diarrhea of infancy

IDI

Autosomal recessive infantile hypercalcemia

Familial infantile hypercalcemia with suppressed intact parathyroid hormone · Infantile hypercalcaemia type 1

Bilateral striopallidodentate calcinosis

BSPDC · Cerebrovascular ferrocalcinosis

Childhood occipital visual epilepsy

COVE · Idiopathic chilldhood occipital epilepsy-Gastaut type

Eales disease

Idiopathic retinal perivasculitis · Idiopathic retinal vasculitis

Early-onset generalized limb-onset dystonia

Dystonia musculorum deformans · EOTD

Generalized arterial calcification of infancy

Idiopathic infantile arterial calcification · Idiopathic obliterative arteriopathy

Gorham-Stout disease

Gorham disease · Gorham syndrome

Granulomatous mastitis

Idiopathic granulomatous mastitis · IGM

IgG4-related pachymeningitis

Idiopathic hypertrophic pachymeningitis

IgG4-related retroperitoneal fibrosis

Ormond disease · Idiopathic retroperitoneal fibrosis

Inverted duplicated chromosome 15 syndrome

Inv dup (15) syndrome · idic (15) syndrome

IRVAN syndrome

Idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome

Isolated asymptomatic elevation of creatine phosphokinase

Isolated asymptomatic hyperCKemia · Idiopathic asymptomatic hyperCKemia

Mendelian susceptibility to mycobacterial diseases

Idiopathic infection caused by BCG or atypical mycobacteria · MSMD

Mounier-Kühn syndrome

Congenital tracheobronchomegaly · Idiopathic tracheobronchomegaly

Moyamoya disease

Idiopathic Moyamoya disease

Multicentric carpo-tarsal osteolysis with or without nephropathy

Idiopathic multicentric osteolysis with or without nephropathy

Nodular non-suppurative panniculitis

Idiopathic lobular panniculitis · Idiopathic nodular panniculitis

Peeling skin syndrome

Deciduous skin · Familial continuous skin peeling syndrome

Primary dystonia, DYT6 type

DYT6 · Generalized cervical and upper-limb-onset dystonia

Primary hypertrophic osteoarthropathy

Idiopathic hypertrophic osteoarthropathy · PHO

Primary membranous glomerulonephritis

Primary membranous nephropathy · Idiopathic membranous glomerulonephritis

Primary myelofibrosis

Agnogenic myeloid metaplasia · Idiopathic myelofibrosis

Pure autonomic failure

Bradbury-Eggleston syndrome · Idiopathic orthostatic hypotension

Sporadic adult-onset ataxia of unknown etiology

Idiopathic late-onset cerebellar ataxia · SAOA

Systemic capillary leak syndrome

Capillary hyperpermeability syndrome · Capillary leak syndrome

Acquired idiopathic sideroblastic anemia

AISA · Primary acquired sideroblastic anemia

Adult idiopathic neutropenia

Adult chronic idiopathic neutropenia

Aniridia-absent patella syndrome

Aniridia-cerebellar ataxia-intellectual disability syndrome

Gillespie syndrome

Aniridia-intellectual disability syndrome

Walker-Dyson syndrome

Aniridia-ptosis-intellectual disability-familial obesity syndrome