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Rare Disease Database

Search Results for: S

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Saethre Chotzen Syndrome

Also known as: acrocephalosyndactyly type III, acrocephaly, skull asymmetry, and mild syndactyly, ACS3, ACS type III, Chotzen syndrome, SCS

Sakati Syndrome

Also known as: ACPS III, ACPS with Leg Hypoplasia, Acrocephalopolysyndactyly Type III, Sakati-Nyhan Syndrome

Sandhoff Disease

Also known as: GM2 gangliosidosis, type 2, hexosaminidases A and B deficiency, beta-hexosaminidase-beta-subunit deficiency, total hexosaminidase deficiency , Sandhoff-Jatzkewitz-Pilz disease

Schindler disease

Also known as: Alpha-N-Acetylgalactosaminidase deficiency, NAGA deficiency, neuroaxonal dystrophy, Schindler type

Schinzel Syndrome

Also known as: Pallister ulnar-mammary syndrome, ulnar-mammary syndrome, UMS

Schwartz Jampel Syndrome

Also known as: chondrodystrophic myotonia, myotonic myopathy, dwarfism, chondrodystrophy, ocular & facial anomalies, Schwartz-Jampel-Aberfeld syndrome, SJA syndrome, SJS

Scott Craniodigital Syndrome

Also known as: Craniodigital Syndrome-Mental Retardation, Scott Type, Craniodigital Syndrome of Scott, Scott Syndrome

Seckel Syndrome

Also known as: Bird-Headed Dwarfism, Seckel Type, Microcephalic Primordial Dwarfism, Nanocephalic Dwarfism, SCKL, Seckel Type Dwarfism, Seckel Type Primordial Dwarfism

Segawa Syndrome

Also known as: autosomal dominant dopa-responsive dystonia (DRD, autosomal dominant segawa syndrome, DYT5 dystonia, GTP cyclohydrolase 1-deficient dopa-responsive dystonia, guanosine triphosphate cyclohydrolase I deficiency, progressive dystonia with marked diurnal fluctuation, Segawa disease

Senior Løken Syndrome

Also known as: juvenile nephronophthisis with leber amaurosis, renal dysplasia and retinal aplasia, renal dysplasia-blindness, hereditary, renal-retinal dysplasia, renal-retinal syndrome, Loken-Senior syndrome, SLS

Sennetsu Fever

Also known as: Human Ehrlichial Infection, Human Ehrlichial Infection, Human Ehrlichial Infection, Sennetsu Type, Sennetsu Type

SETBP1 Disorder

Also known as: SETBP1-related disorder, SETBP1-related intellectual disability, SETBP1-related developmental delay

Setleis Syndrome

Also known as: Bitemporal Forceps Marks Syndrome, Facial Ectodermal Dysplasia, FFDD Type II, Focal Facial Dermal Dysplasia Type II

Sheehan Syndrome

Also known as: postpartum hypopituitarism, postpartum panhypopituitarism, postpartum panhypopituitary syndrome, postpartum pituitary necrosis, SS

SHORT Syndrome

Also known as: Aarskog-Ose-Pande syndrome, lipodystrophy-Rieger anomaly-diabetes syndrome, Rieger anomaly-partial lipodystrophy syndrome, PIK3R1-associated syndromic insulin resistance with lipoatrophy

Shwachman Diamond Syndrome

Also known as: lipomatosis of pancreas, congenital, pancreatic insufficiency and bone marrow dysfunction, Shwachman-Bodian syndrome, Shwachman-Diamond-Oski syndrome, Shwachman syndrome


Also known as: alpha-neuraminidase deficiency, cherry red spot and myoclonus syndrome, glycoprotein neuraminidase, deficiency of, lipomucopolysaccharidosis type I, ML I, mucolopidosis type I, neuraminidase deficiency, sialidase deficiency

Simpson-Golabi-Behmel Syndrome

Also known as: Simpson dysmorphia syndrome, SGB syndrome, SGBS, SGBS1, bulldog syndrome, dysplasia gigantism syndrome, X-Linked, SDYS, DGSX Golabi-Rosen syndrome, Golabi-Rosen syndrome


Also known as: mermaid syndrome, sirenomelia sequence, sirenomelia syndrome, sirenomelus


Also known as: phytosterolemia, beta-sitosterolemia, plant sterol storage disease

Sjögren-Larsson Syndrome

Also known as: SLS, ichthyosis, spastic neurologic disorder, and oligophrenia, fatty aldehyde dehydrogenase deficiency, FALDH deficiency

SLC13A5 Epileptic Encephalopathy

Also known as: SLC13A5 deficiency , citrate transporter disorder, early infantile epileptic encephalopathy 25 [MIM: 608305], Kohlschütter-Tönz syndrome (non-ROGDI)

SLC6A1 Epileptic Encephalopathy

Also known as: SLC6A1-related myoclonic-atonic epilepsy (MAE) , SLC6A1 haploinsufficiency / loss of function, GAT1 deficiency, SLC6A1-related disorders

Smith Magenis Syndrome

Also known as: chromosome 17, interstitial deletion 17p, Chromosome 17p11.2 deletion syndrome, SMCR, Smith-Magenis chromosome region, retinoic acid induced 1 gene (RAI1), SMS

Sneddon Syndrome

Also known as: livedo reticularis racemosa and cerebrovascular accidents, Sneddon's Syndrome

Spastic Paraplegia 47

Also known as: SPG47, AP4B1-associated hereditary spastic paraplegia, AP-4 deficiency syndrome

Spastic Paraplegia 50

Also known as: SPG50, AP4M1-associated hereditary spastic paraplegia, AP-4 deficiency syndrome

Spastic Paraplegia 51

Also known as: SPG51, AP4E1-associated hereditary spastic paraplegia, AP-4 deficiency syndrome

Spastic Paraplegia 52

Also known as: SPG52, AP4S1-associated hereditary spastic paraplegia, AP-4 deficiency syndrome

Spinal Muscular Atrophy with Respiratory Distress

Also known as: autosomal recessive distal spinal muscular atrophy 1s, DHMN6, diaphragmatic spinal muscular atrophy, distal hereditary motor neuronopathy type VI, distal spinal muscular atrophy type 1, DSMA1, HMN6, HMNVI, severe infantile axonal neuropathy with respiratory failure, SIANRF, SMARD1, spinal muscular atrophy with respiratory distress type 1

Spondylocostal Dysplasia

Also known as: costovertebral dysplasia, Jarcho-Levin syndrome (obsolete), spondylocostal dysostosis, SCD, SCDO

Sprengel Deformity

Also known as: Congenital Elevation of the Scapula, Congenital High Scapula, Scapula Elevata

STEC Hemolytic Uremic Syndrome

Also known as: classic hemolytic uremic syndrome, diarrhea-associated (D+) hemolytic uremic syndrome, shigatoxin-associated hemolytic uremic syndrome, Stx HUS [STEC HUS], STEC HUS, typical HUS

Stomach Cancer

Also known as: adenocarcinoma of the stomach, gastroesophageal junction cancer, gastric cancer

Sturge Weber Syndrome

Also known as: Dimitri disease, encephalofacial angiomatosis, encephalotrigeminal angiomatosis, leptomeningeal angiomatosis, Sturge-Kalischer-Weber syndrome, Sturge-Weber-Krabbe syndrome, Sturge-Weber phakomatosis, SWS

Stuve-Wiedemann Syndrome

Also known as: STWS, Schwartz-Jampel syndrome type 2, SJS2, Schwartz-Jampel syndrome neonatal, Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome, Neonatal Schwartz-Jampel syndrome type 2

STXBP1 Disorders

Also known as: STXBP1 encephalopathy, STXBP1 epileptic encephalopathy, STXBP1-related disorders, developmental and epileptic encephalopathy 4 [MIM: 612164]

Superficial Siderosis

Also known as: superficial siderosis of the central nervous system, subpial siderosis, cerebellar siderosis, superficial hemosiderosis, hemosiderosis of the central nervous system

Superior Mesenteric Artery Syndrome

Also known as: arteriomesenteric duodenal obstruction, Cast syndrome, chronic duodenum ileus, mesenteric root syndrome, SMA, SMA syndrome, Wilkie’s syndrome

Superior Semicircular Canal Dehiscence

Also known as: superior semicircular canal dehiscence syndrome, canal dehiscence syndrome, superior canal syndrome, third mobile window syndrome, Minor’s syndrome, SSCD

Sutton Disease II

Also known as: Aphthous Stomatitis, Recurrent, Aphthous Ulcer, Recurrent, Major Aphthous Ulcer, Major Canker Sore, Major Ulcerative Stomatitis, Periadenitis Mucosa Necrotica, Recurrent Type II, RAU, Recurrent Scarring Aphthae, von Mikulicz's Aphthae, Von Zahorsky's Disease

Swyer syndrome

Also known as: 46, XY CGD, 46, XY complete gonadal dysgenesis, 46, XY pure gonadal dysgenesis, gonadal dysgenesis, XY female type


Also known as: hydromyelia, Morvan disease, syringohydromyelia