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: Sickle cell disease associated with another hemoglobin anomaly

ORPHA:251355

OBSOLETE: Single ventricular septal defect

ORPHA:99097

OBSOLETE: Sino-auricular heart block

ORPHA:1260

OBSOLETE: Sinus node disease-myopia syndrome

ORPHA:3122

OBSOLETE: Small pox

OBSOLETE: Variola

ORPHA:415675

OBSOLETE: Solitary median maxillary central incisor syndrome

OBSOLETE: SMMCI · OBSOLETE: Single upper central incisor

ORPHA:2286

OBSOLETE: Sparse hair-short stature-skin anomalies syndrome

ORPHA:79132

OBSOLETE: Spastic diplegia, infantile type

OBSOLETE: Little syndrome

ORPHA:1680

OBSOLETE: Spherocytic elliptocytosis

ORPHA:98866

OBSOLETE: Spinocerebellar ataxia with oculomotor anomaly

ORPHA:98693

OBSOLETE: Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly

ORPHA:98694

OBSOLETE: Split foot

ORPHA:294994

OBSOLETE: Split foot, bilateral

ORPHA:295126

OBSOLETE: Split foot, unilateral

ORPHA:295124

OBSOLETE: Split hand

OBSOLETE: Ectrodactyly of hand

ORPHA:294992

OBSOLETE: Split hand or/and split foot malformation

ORPHA:294935

OBSOLETE: Split hand, bilateral

OBSOLETE: Ectrodactyly of hand, bilateral

ORPHA:295122

OBSOLETE: Split hand, unilateral

OBSOLETE: Ectrodactyly of hand, unilateral

ORPHA:295120

OBSOLETE: Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome

OBSOLETE: Casamassima-Morton-Nance syndrome

ORPHA:94095

OBSOLETE: Spondylocostal dysostosis-hypospadias-intellectual disability syndrome

ORPHA:329252

OBSOLETE: Spondyloepimetaphyseal dysplasia

ORPHA:252

OBSOLETE: Spondyloepimetaphyseal dysplasia with joint laxity

ORPHA:93359

OBSOLETE: Spondyloepimetaphyseal dysplasia with severe short stature

ORPHA:642737

OBSOLETE: Sporadic achalasia

ORPHA:99722

OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy

ORPHA:97555

OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation

ORPHA:93222

OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis

ORPHA:93220

OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis

OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis

ORPHA:93218

OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes

ORPHA:93221

OBSOLETE: Sporadic Leigh syndrome

OBSOLETE: Sporadic Leigh disease · OBSOLETE: Sporadic infantile subacute necrotizing encephalopathy

ORPHA:255199

OBSOLETE: Sporadic pheochromocytoma

ORPHA:276624

OBSOLETE: Sporadic secreting paraganglioma

ORPHA:276627

OBSOLETE: Squamous cell carcinoma of salivary glands

ORPHA:500481

OBSOLETE: Subcutaneous myiasis

ORPHA:165961

OBSOLETE: Sucking/swallowing disorder associated to a chromosomal anomaly

ORPHA:138076

OBSOLETE: Sucking/swallowing disorder associated to cervicofacial or esophageal malformation

ORPHA:138084

OBSOLETE: Sucking/swallowing disorder associated with a neuromuscular disease

ORPHA:138115

OBSOLETE: Sucking/swallowing disorder associated with an identified syndrome

ORPHA:138072

OBSOLETE: Sucking/swallowing disorder associated with basal ganglia anomalies

ORPHA:138104

OBSOLETE: Sucking/swallowing disorder associated with cerebellar anomalies

ORPHA:138112

OBSOLETE: Sucking/swallowing disorder associated with neurologic anomalies

ORPHA:138095

OBSOLETE: Sucking/swallowing disorder associated with posterior fossa anomalies

ORPHA:138109

OBSOLETE: Sucking/swallowing disorder associated with suprabulbar anomalies

ORPHA:138101

OBSOLETE: Sucking/swallowing disorder not related with Pierre Robin syndrome

OBSOLETE: Sucking/swallowing disorder not related with Pierre Robin sequence

ORPHA:138069

OBSOLETE: Superior celosomia

ORPHA:93942

OBSOLETE: Suprabasal epidermolysis bullosa simplex

ORPHA:158661

OBSOLETE: Symbrachydactyly of hand and foot, bilateral

ORPHA:295138

OBSOLETE: Symbrachydactyly of hand and foot, unilateral

ORPHA:295136