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"

10,911 rare diseases

OBSOLETE: HIV-related hepatocellular carcinoma

ORPHA:443310

OBSOLETE: HIV-related Hodgkin lymphoma

ORPHA:443316

OBSOLETE: HIV-related Kaposi sarcoma

ORPHA:443328

OBSOLETE: HIV-related lung cancer

ORPHA:443301

OBSOLETE: HIV-related Non-Hodgkin lymphoma

ORPHA:443325

OBSOLETE: HIV-related oropharyngeal cancer

ORPHA:443304

OBSOLETE: HIV-related penile cancer

ORPHA:443313

OBSOLETE: HIV-related vulvovaginal cancer

ORPHA:443319

OBSOLETE: Holoacardius amorphus

ORPHA:2161

OBSOLETE: House allergic alveolitis

ORPHA:99907

OBSOLETE: Humeral agenesis/hypoplasia, bilateral

OBSOLETE: Humeral intercalary meromelia, bilateral

ORPHA:295063

OBSOLETE: Humeral agenesis/hypoplasia, unilateral

OBSOLETE: Humeral intercalary meromelia, unilateral

ORPHA:295061

OBSOLETE: Humero-radial synostosis, bilateral

OBSOLETE: Humero-radial fusion, bilateral

ORPHA:295211

OBSOLETE: Humero-radial synostosis, unilateral

OBSOLETE: Humero-radial fusion, unilateral

ORPHA:295209

OBSOLETE: Humero-radio-ulnar synostosis, bilateral

OBSOLETE: Humero-radio-ulnar fusion, bilateral

ORPHA:295207

OBSOLETE: Humero-radio-ulnar synostosis, unilateral

OBSOLETE: Humero-radio-ulnar fusion, unilateral

ORPHA:295205

OBSOLETE: Humero-ulnar synostosis, bilateral

OBSOLETE: Humero-ulnar fusion, bilateral

ORPHA:295215

OBSOLETE: Humero-ulnar synostosis, unilateral

OBSOLETE: Humero-ulnar fusion, unilateral

ORPHA:295213

OBSOLETE: Hyperdibasic aminoaciduria type 1

ORPHA:1032

OBSOLETE: Hyperlipoproteinemia type 5

OBSOLETE: HLP type 5 · OBSOLETE: Major hyperlipidemia

ORPHA:70470

OBSOLETE: Hyperphalangy, bilateral

OBSOLETE: Supernumerary phalanx, bilateral · OBSOLETE: Supernumerary phalanges, bilateral

ORPHA:295142

OBSOLETE: Hyperphalangy, unilateral

OBSOLETE: Hyperphalangy in digits 2-5 · OBSOLETE: Supernumerary phalanx, unilateral

ORPHA:295140

OBSOLETE: Hypertrichotic osteochondrodysplasia

ORPHA:2765

OBSOLETE: Hypertrophic cardiomyopathy due to intensive athletic training

ORPHA:217601

OBSOLETE: Hypodermyiasis

ORPHA:430

OBSOLETE: Hypopituitarism-postaxial polydactyly syndrome

ORPHA:2245

OBSOLETE: Hypopituitarism-short stature-skeletal anomalies syndrome

OBSOLETE: Blethen-Wenick-Hawkins syndrome

ORPHA:2626

OBSOLETE: Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome

ORPHA:656273

OBSOLETE: Ichthyosis associated with ocular features

ORPHA:98698

OBSOLETE: Ichthyosis-cheek-eyebrow syndrome

OBSOLETE: Sidransky-Feinstein-Goodman syndrome

ORPHA:2267

OBSOLETE: Idiopathic hydrops fetalis

ORPHA:89845

OBSOLETE: Idiopathic hypersomnia with long sleep time

ORPHA:228315

OBSOLETE: Idiopathic hypersomnia without long sleep time

ORPHA:228318

OBSOLETE: Idiopathic recurrent and disabling cutaneous herpes

ORPHA:35061

OBSOLETE: Idiopathic severe pneumococcemia

ORPHA:35065

OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation

ORPHA:93209

OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis

OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with focal segmental glomerulosclerosis

ORPHA:93206

OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with minimal change

OBSOLETE: Steroid-sensitive MCNS

ORPHA:93207

OBSOLETE: IFNG-responsive severe mendelian susceptibility to mycobacterial diseases

OBSOLETE: IFNG-responsive severe MSMD · OBSOLETE: Interferon gamma-responsive severe mendelian susceptibility to mycobacterial diseases

ORPHA:686447

OBSOLETE: Immunoglobulin A1 deficiency

OBSOLETE: IgA1 deficiency

ORPHA:99972

OBSOLETE: Immunoglobulin A2 deficiency

OBSOLETE: IgA2 deficiency

ORPHA:99973

OBSOLETE: Immunoproliferative small intestinal disease

OBSOLETE: IPSID · OBSOLETE: Mediterranean lymphoma

ORPHA:103915

OBSOLETE: Indian tick typhus

ORPHA:101335

OBSOLETE: Infantile axonal neuropathy

ORPHA:2679

OBSOLETE: Infantile epilepsy syndrome

ORPHA:98258

OBSOLETE: Infantile neuronal ceroid lipofuscinosis

OBSOLETE: INCL · OBSOLETE: Infantile NCL

ORPHA:79263

OBSOLETE: Infantile non-syndromic cataract

ORPHA:217052

OBSOLETE: Infantile striatothalamic degeneration

ORPHA:1575