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: Radio-ulnar synostosis, unilateral

OBSOLETE: Radio-ulnar fusion, unilateral

ORPHA:295217

OBSOLETE: Ramsay Hunt syndrome type II

ORPHA:412220

OBSOLETE: Rapidly progressive glomerulonephritis

OBSOLETE: RPGN · OBSOLETE: Crescentic glomerulonephritis

ORPHA:280569

OBSOLETE: Rare acquired eye disease

ORPHA:101949

OBSOLETE: Rare bone disease with limb reduction defect

OBSOLETE: Rare bone disease with limb hypoplasia

ORPHA:328269

OBSOLETE: Rare disease in physical medicine and rehabilitation

ORPHA:98064

OBSOLETE: Rare disease with corpus callosum agenesis associated with peripheral neuropathy

ORPHA:207031

OBSOLETE: Rare eye disease due to a differentiation anomaly

ORPHA:98558

OBSOLETE: Rare genetic choroidal disorder

ORPHA:522584

OBSOLETE: Rare genetic conjunctivitis

ORPHA:522544

OBSOLETE: Rare genetic glaucoma

ORPHA:183604

OBSOLETE: Rare genetic palpebral, lacrimal system and conjunctival disease

ORPHA:183598

OBSOLETE: Rare genetic refraction anomaly

ORPHA:183601

OBSOLETE: Rare glaucoma

ORPHA:98629

OBSOLETE: Rare hereditary iron overload disease

ORPHA:363266

OBSOLETE: Rare inflammatory eye disease

ORPHA:182214

OBSOLETE: Rare major hypertriglyceridemia

ORPHA:181425

OBSOLETE: Rare non-syndromic cataract

ORPHA:217049

OBSOLETE: Rare palpebral, lacrimal system and conjunctival disease

ORPHA:98559

OBSOLETE: Rare sucking/swallowing disorder

ORPHA:138221

OBSOLETE: Rare variants of adenocarcinoma of the corpus uteri

ORPHA:213574

OBSOLETE: Recessive aplasia cutis congenita of limbs

ORPHA:1115

OBSOLETE: Recessive hereditary methemoglobinemia type 1

OBSOLETE: NADH-cytochrome b5reductase deficiency type 1 · OBSOLETE: Recessive congenital methemoglobinemia type 1

ORPHA:139373

OBSOLETE: Recessive hereditary methemoglobinemia type 2

OBSOLETE: NADH-cytochrome b5reductase deficiency type 2 · OBSOLETE: Recessive congenital methemoglobinemia type 2

ORPHA:139380

OBSOLETE: Rejection after corneal transplantation

ORPHA:90055

OBSOLETE: Renal cell carcinoma associated with neuroblastoma

OBSOLETE: Renal cell carcinoma after neuroblastoma

ORPHA:319314

OBSOLETE: Renier-Gabreels-Jasper syndrome

ORPHA:93975

OBSOLETE: Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3

OBSOLETE: Retinitis pigmentosa and intellectual disability due to del(X)(p11.3) · OBSOLETE: Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion

ORPHA:261512

OBSOLETE: Retrocerebellar cyst

ORPHA:269200

OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies

OBSOLETE: Rheumatoid factor-negative JIA with anti-nuclear antibodies · OBSOLETE: Polyarthritis without rheumatoid factor with anti-nuclear antibodies

ORPHA:247854

OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies

OBSOLETE: Polyarthritis without rheumatoid factor without anti-nuclear antibodies · OBSOLETE: Juvenile rheumatoid factor-negative polyarthritis without anti-nuclear antibodies

ORPHA:247861

OBSOLETE: Rosselli-Gulienetti syndrome

ORPHA:90339

OBSOLETE: Sakati-Nyhan syndrome

OBSOLETE: ACPS III · OBSOLETE: Sakati syndrome

ORPHA:3128

OBSOLETE: Say-Field-Coldwell syndrome

OBSOLETE: Triphalangeal thumbs-dislocation of patella syndrome

ORPHA:3133

OBSOLETE: Sea-blue histiocytosis

ORPHA:158029

OBSOLETE: Secondary acute transverse myelitis

OBSOLETE: Disease-associated transverse myelitis

ORPHA:139420

OBSOLETE: Secondary ciliary dyskinesia

OBSOLETE: Acquired ciliary dyskinesia

ORPHA:91365

OBSOLETE: Secondary entropion

ORPHA:98569

OBSOLETE: Secondary glaucoma due to a proliferation and differentiation anomaly

ORPHA:98637

OBSOLETE: Secondary glomerular disease

ORPHA:93551

OBSOLETE: Secretory apparatus of the lacrimal system anomaly

ORPHA:98603

OBSOLETE: Sequence or association

ORPHA:139006

OBSOLETE: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency

OBSOLETE: 17b-hydroxysteroid dehydrogenase deficiency type 10 · OBSOLETE: 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency

ORPHA:35123

OBSOLETE: Short stature-heart defect-craniofacial anomalies syndrome

OBSOLETE: Rommen-Mueller-Sybert syndrome

ORPHA:1088

OBSOLETE: Short stature-microcephaly-heart defect syndrome

OBSOLETE: D'Ercole syndrome

ORPHA:2861

OBSOLETE: Short stature-prognathism-short femoral necks syndrome

ORPHA:2864

OBSOLETE: Shoulder and girdle defects-familial intellectual disability syndrome

ORPHA:2580

OBSOLETE: Shy-Drager syndrome

OBSOLETE: MSA-urinary dysfunction syndrome · OBSOLETE: Multiple system atrophy-urinary dysfunction syndrome

ORPHA:98932