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

Infectious disease with epilepsy

ORPHA:166490

Infectious disease with peripheral neuropathy

ORPHA:206613

Infectious embryofetopathy

ORPHA:232035

Infectious encephalitis

ORPHA:98252

Infectious epithelial keratitis

ORPHA:137593

Infectious panuveitis

ORPHA:279925

Infectious posterior uveitis

ORPHA:279919

Infectious, fungal or parasitic myopathy

ORPHA:206988

Infective dermatitis associated with HTLV-1

IDH · Infective dermatitis associated with human T-lymphotropic virus type 1

ORPHA:289347

Infective keratitis

ORPHA:519278

Inferior vena cava interruption without azygos continuation

IVC interruption · Inferior caval vein interruption

ORPHA:99123

Inflammatory and autoimmune disease with epilepsy

ORPHA:166484

Inflammatory linear verrucous epidermal nevus

ILVEN

ORPHA:79466

Inflammatory myofibroblastic tumor

ORPHA:178342

Inflammatory myopathy with abundant macrophages

IMAM

ORPHA:247718

Inflammatory pseudotumor of the liver

ORPHA:90003

Inflammatory/autoimmune disorder involving the lacrimal system

ORPHA:519264

Infundibulo-neurohypophysitis

ORPHA:238305

Inhalational anthrax

Inhalation anthrax disease · Pulmonary anthrax

ORPHA:247257

Inhalational botulism

Inhalation botulism

ORPHA:254504

Inherited acute myeloid leukemia

Acute myeloid leukemia · AML

ORPHA:319465

Inherited arrhythmogenic cardiomyopathy

Arrhythmogenic cardiomyopathy · ACM

ORPHA:247

Inherited cancer-predisposing lymphoproliferative syndrome

ORPHA:664450

Inherited cancer-predisposing syndrome

ORPHA:140162

Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations

ORPHA:319462

Inherited congenital spastic tetraplegia

Inherited congenital spastic quadriplegia

ORPHA:210141

Inherited Creutzfeldt-Jakob disease

Inherited CJD

ORPHA:282166

Inherited digestive cancer-predisposing syndrome

ORPHA:425003

Inherited epidermodysplasia verruciformis

Lewandowsky-Lutz syndrome · Lutz-Lewandowsky epidermodysplasia verruciformis

ORPHA:302

Inherited epidermolysis bullosa

Epidermolysis bullosa hereditaria · Hereditary epidermolysis bullosa

ORPHA:79361

Inherited gynecological cancer-predisposing syndrome

ORPHA:589746

Inherited hematologic cancer-predisposing syndrome

ORPHA:619340

Inherited human prion disease

Familial prion disease · Genetic human prion disease

ORPHA:280400

Inherited ichthyosis

Genetic ichthyosis

ORPHA:183435

Inherited ichthyosis syndromic form

ORPHA:281085

Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency

ORPHA:289548

Inherited isolated arrhythmogenic cardiomyopathy

ORPHA:217656

Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant

ALVC · Arrhythmogenic cardiomyopathy dominant-left variant

ORPHA:293888

Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant

Arrhythmogenic cardiomyopathy dominant-right variant · Arrhythmogenic cardiomyopathy with right ventricular involvement

ORPHA:293910

Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant

Familial isolated arrhythmogenic ventricular dysplasia, biventricular form

ORPHA:293899

Inherited nervous system cancer-predisposing syndrome

ORPHA:252190

Inherited non-syndromic ichthyosis

ORPHA:281082

Inherited renal cancer-predisposing syndrome

ORPHA:319328

Iniencephaly

ORPHA:63259

Insulin autoimmune syndrome

Hirata disease

ORPHA:411593

Insulin-resistance syndrome type A

ORPHA:2297

Insulin-resistance syndrome type B

ORPHA:2298

Insulinoma

ORPHA:97279