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Rare Disease Database

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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
Subdivisions: Kanzaki disease, Schindler disease Type I, Schindler disease Type II, Schindler disease Type III

Schinzel Syndrome

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

Schnitzler Syndrome

Also known as: Schnitzler's syndrome
Subdivisions: IgG variant Schnitzler syndrome

Schwartz Jampel Syndrome

Also known as: chondrodystrophic myotonia, myotonic myopathy, dwarfism, chondrodystrophy, ocular & facial anomalies, Schwartz-Jampel-Aberfeld syndrome, SJA syndrome, SJS
Subdivisions: Schwartz-Jampel syndrome, type 2, Schwartz-Jampel syndrome, types 1A and 1B

Scleroderma

Subdivisions: localized scleroderma, systemic scleroderma

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
Subdivisions: Seckel Syndrome 1, SCKL1, Seckel Syndrome 2, SCKL2, Seckel Syndrome 3, SCKL3

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

Severe Chronic Neutropenia

Also known as: SCN
Subdivisions: congenital neutropenia, autoimmune neutropenia, idiopathic neutropenia

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

Sialidosis

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
Subdivisions: sialidosis type I, sialidosis type II

Sickle Cell Disease

Also known as: SCD
Subdivisions: sickle cell anemia, sickle cell hemoglobin C disease, sickle cell thalassemia disease

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
Subdivisions: Simpson-Golabi-Behmel syndrome type 1, Simpson-Golabi-Behmel syndrome type 2

Sirenomelia

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

Sitosterolemia

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 Citrate Transporter Disorder

Also known as: SLC13A5 epileptic encephalopathy, SLC13A5 deficiency , developmental epileptic encephalopathy 25 (DEE25), 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

Smallpox

Subdivisions: Variola Major (Smallpox), Variola Minor (Alastrim)

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

Soft Tissue Sarcoma

Also known as: STS
Subdivisions: angiosarcoma, clear cell sarcoma, dermatofibrosarcoma protuberans, desmoplastic small round cell tumor, epithelioid sarcoma, malignant peripheral nerve sheath tumors, myxofibrosarcoma, rhabdomyosarcoma, solitary fibrous tumor, synovial sarcoma, undifferentiated pleomorphic sarcoma

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

Spina Bifida

Also known as: Neural Tube Defect, SB
Subdivisions: Spina Bifida Cystica, Spina Bifida Occulta

Spinal Muscular Atrophy

Also known as: SMA
Subdivisions: SMA type 0, SMA type 1, SMA type 2, SMA type 3, SMA type 4

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

Status Epilepticus

Also known as: Convulsions, Seizures
Subdivisions: Abdominal Epilepsy, Akinetic Seizure, Epilepsia Procursiva, Febrile Seizures, Focal Epilepsy, Grand Mal Epilepsy, Jacksonian Epilepsy, Lundborg-Unverricht Disease, Major Epilepsy, Minor Epilepsy, Myoclonic Astatic Petit Mal Epilepsy, Myoclonic Progressice Familial Epilepsy, Myoclonic Seizure, Petit Mal Epilepsy, Petit Mal Variant, Psychomotor Convulsion, Psychomotor Epilepsy, Psychomotor Equivalent Epilepsy, Pyknoepilepsy, Status Epilepticus, Temporal Lobe Epilepsy, Unverricht-Lundborg-Laf Disease, Unverricht Syndrome

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

Stickler Syndrome

Also known as: hereditary arthro-ophthalmopathy
Subdivisions: Stickler syndrome type I, Stickler syndrome type II, Stickler syndrome type III, Stickler syndrome type IV, Stickler syndrome type V

Stiff Person Syndrome

Also known as: Moersch-Woltman syndrome, stiff-man syndrome, SMS, SPS
Subdivisions: classic stiff person syndrome, focal stiff person syndrome, jerking stiff person syndrome, progressive encephalomyelitis with rigidity and myoclonus (PERM), paraneoplastic-related stiff person syndrome

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
Subdivisions: infratentorial superficial siderosis, type 1 (classical) (iSS), cortical superficial siderosis (cSS)

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

Sweet Syndrome

Also known as: Acute Febrile Neutrophilic Dermatosis
Subdivisions: Classical Sweet Syndrome, Malignancy-associated Sweet Syndrome (MASS), Drug-induced Sweet Syndrome

Swyer syndrome

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

Syphilis, Acquired

Also known as: Lues, Acquired, Venereal Disease
Subdivisions: Neurosyphilis

Syringomyelia

Also known as: hydromyelia, Morvan disease, syringohydromyelia

Systemic Scleroderma

Also known as: systemic sclerosis, progressive systemic sclerosis
Subdivisions: limited cutaneous systemic sclerosis (lcSSc), diffuse cutaneous systemic sclerosis (dcSSc), systemic sclerosis sine scleroderma, systemic sclerosis overlap syndrome

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