List of rare diseases/S

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

• Saal Bulas syndrome
• Saal Greenstein syndrome
• Sabinas brittle hair syndrome
• Saccharopinuria
• Sackey Sakati Aur syndrome
• Sacral agenesis
• Sacral defect anterior sacral meningocele
• Sacral hemangiomas multiple congenital abnormalities
• Sacral meningocele conotruncal heart defects
• Sacral plexopathy
• Sacrococcygeal dysgenesis association
• Saethre-Chotzen syndrome
• Saito Kuba Tsuruta syndrome
• Sakati syndrome
• Salcedo syndrome
• Salivary disorder
• Salivary gland disorders
• Salla disease
• Sallis Beighton syndrome
• Salmonella Infections
• Salti Salem syndrome
• Sammartino Decreccio syndrome
• Samson Gardner syndrome
• Samson Viljoen syndrome
• Sanderson Fraser syndrome
• Sandhaus Ben Ami syndrome
• Sandhoff disease
• Sandrow Sullivan Steel syndrome
• Sanfilippo syndrome
• Santavuori disease
• Santos Mateus Leal syndrome
• SAPHO syndrome
• Sarcoidosis, pulmonary
• Sarcoidosis
• Sarcoma, Granulocytic
• Sarcosinemia
• Satoyoshi syndrome
• Saul Wilkes Stevenson syndrome
• Say Barber Hobbs syndrome
• Say Barber Miller syndrome
• Say Carpenter syndrome
• Say Field Coldwell syndrome
• Say Meyer syndrome
• Scabiophobia
• SCAD deficiency
• Scalp defects postaxial polydactyly
• Scalp ear nipple syndrome
• Scapuloiliac dysostosis
• Scapuloperoneal myopathy
• SCARF syndrome
• Schaap Taylor Baraitser syndrome
• Schaefer Stein Oshman syndrome
• Schamberg disease pigmentation disorder
• Schamberg disease
• Scheie syndrome
• Schereshevskij Turner
• Scheurermann's disease
• Schimke syndrome
• Schindler disease
• Schinzel Giedion syndrome
• Schinzel syndrome
• Schinzel-Giedion midface retraction syndrome
• Schisis association
• Schizencephaly
• Schizophrenia mental retardation deafness retinitis
• Schizophrenia, genetic types
• Schlegelberger Grote syndrome
• Schmidt syndrome
• Schmitt Gillenwater Kelly syndrome
• Schneckenbecken dysplasia
• Schofer Beetz Bohl syndrome
• Scholte Begeer Van Essen syndrome
• Schraderman's disease
• Schrander Stumpel Theunissen Hulsmans syndrome
• Schroer Hammer Mauldin syndrome
• Schwannoma, malignant
• Schwannomatosis
• Schwartz Newark syndrome
• Schwartz-Jampel syndrome
• Schwartz-lelek syndrome
• Schweitzer Kemink Malcolm syndrome
• Sciatica
• Scimitar syndrome
• Sciophobia
• Scleredema
• Scleroatonic myopathy
• Sclerocornea, Syndactyly, ambiguous genitalia
• Scleroderma
• Scleromyxedema
• Sclerosing bone dysplasia mental retardation
• Sclerosing cholangitis
• Sclerosing Lymphocytic Lobulitis
• Sclerosing Mesenteritis
• Sclerosteosis
• Sclerotylosis
• Scoleciphobia
• Scoliosis as part of NF
• Scoliosis with unilateral unsegmented bar
• Scopophobia
• SCOT deficiency
• Scotomaphobia
• Scott Bryant Graham syndrome
• Scott syndrome
• Scrapie
• Sea-blue histiocytosis
• Seafood poisoning
• Seaver Cassidy syndrome
• Sebocystomatosis
• Secernentea Infections
• Seckel like syndrome Majoor Krakauer type
• Seckel like syndrome type Buebel
• Seckel syndrome 2
• Seckel syndrome
• Secondary pulmonary hypertension
• Seemanova Lesny syndrome
• Seemanova syndrome type 2
• Seghers syndrome
• Segmental neurofibromatosis
• Segmental vertebral anomalies
• Seizures benign familial neonatal recessive form
• Seizures mental retardation hair dysplasia
• Selachophobia
• Selenium poisoning
• Selenophobia
• Selig Benacerraf Greene syndrome
• Seminoma
• Semmerkrot Haraldsson Weenaes syndrome
• Sener syndrome
• Sengers Hamel Otten syndrome
• Senior syndrome
• Senior-Loken Syndrome
• Sennetsu Fever
• Sensorineural hearing loss
• Sensory neuropathy type 1
• Sensory neuropathy
• Sensory radicular neuropathy recessive form
• Senter syndrome
• Seow Najjar syndrome
• Seplophobia
• Sepsis
• Septooptic dysplasia digital anomalies
• Septo-optic dysplasia
• Sequeiros Sack syndrome
• Seres Santamaria Arimany Muniz syndrome
• Serious digitalis intoxication
• Setleis syndrome
• Severe acute respiratory syndrome (SARS)
• Severe combined immunodeficiency
• Severe Infantile Axonal Neuropathy
• Sex Chromosome Disorders
• Sezary syndrome
• Sezary's lymphoma
• Shapiro syndrome
• Sharma Kapoor Ramji syndrome
• Sharp syndrome
• Shaver's Disease
• Sheehan syndrome
• Shigellosis
• Shith Filkins syndrome
• Shock
• Shokeir syndrome
• Short broad great toe macrocranium
• Short chain Acyl CoA dehydrogenase deficiency
• Short limb dwarf lethal Colavita Kozlowski type
• Short limb dwarf lethal Mcalister Crane type
• Short limb dwarf oedema iris coloboma
• Short limb dwarfism Al Gazali type
• Short limbs abnormal face congenital heart disease
• Short limbs subluxed knees cleft palate
• Short rib syndrome Beemer type
• Short rib-polydactyly syndrome, Beermer type
• Short rib-polydactyly syndrome, Majewski type
• Short rib-polydactyly syndrome, Saldino-Noonan type
• Short rib-polydactyly syndrome, Verma-Naumoff type
• Short rib-polydactyly syndrome
• Short ribs craniosynostosis polysyndactyly
• Short stature abnormal skin pigmentation mental retardation
• Short stature Brussels type
• Short stature contractures hypotonia
• Short stature cranial hyperostosis hepatomegaly
• Short stature deafness neutrophil dysfunction
• Short stature dysmorphic face pelvic scapula dysplasia
• Short stature heart defect craniofacial anomalies
• Short stature hyperkaliemia acidosis
• Short stature locking fingers
• Short stature mental retardation eye anomalies
• Short stature mental retardation eye defects
• Short stature microcephaly heart defect
• Short stature microcephaly seizures deafness
• Short stature monodactylous ectrodactyly cleft palate
• Short stature prognathism short femoral necks
• Short stature Robin sequence cleft mandible hand anomalies clubfoot
• Short stature talipes natal teeth
• Short stature valvular heart disease
• Short stature webbed neck heart disease
• Short stature wormian bones dextrocardia
• Short syndrome
• Short tarsus absence of lower eyelashes
• Shoulder and thorax deformity congenital heart disease
• Shoulder girdle defect mental retardation familial
• Shprintzen Golberg craniosynostosis
• Shprintzen syndrome
• Shwachman syndrome
• Shwachman-Diamond syndrome
• Shwartzman phenomenon
• Shy-Drager syndrome
• Sialadenitis
• Sialidosis type 1 and 3
• Sialidosis
• Sialuria, French type
• Sickle cell anemia
• Sickle cell crisis
• Sickle cell trait
• Sideroblastic anemia, autosomal
• Siderosis
• Siegler Brewer Carey syndrome
• Silengo Lerone Pelizzo syndrome
• Silicosiderosis
• Silicosis
• Sillence syndrome
• Silver-Russell dwarfism
• Silvery hair syndrome
• Simian B virus infection
• Simosa Penchaszadeh Bustos syndrome
• Simpson-Golabi-Behmel syndrome
• Singh Chhaparwal Dhanda syndrome
• Single upper central incisor
• Single ventricular heart
• Singleton Merten syndrome
• Sinistrophobia
• Sino-auricular heart block
• Sinus cancer
• Sinus histiocytosis
• Sinus node disease and myopia
• Sipple syndrome
• Sirenomelia
• Sitophobia
• Sitosterolemia
• Situs inversus totalis with cystic dysplasia of kidneys and pancreas
• Situs inversus viscerum-cardiopathy
• Situs inversus, X linked
• Sjogren Larsson like syndrome
• Sjogren Larsson syndrome
• Sjogren's syndrome
• Skeletal dysplasia brachydactyly
• Skeletal dysplasia epilepsy short stature
• Skeletal dysplasia orofacial anomalies
• Skeletal dysplasia San diego type
• Skeletal dysplasias
• Skeleto cardiac syndrome with thrombocytopenia
• Sketetal dysplasia coarse facies mental retardation
• Skin peeling syndrome
• Slavotinek Hurst syndrome
• Sly syndrome
• Small cell lung cancer
• Small non-cleaved cell lymphoma
• Smet Fabry Fryns syndrome
• Smith Fineman Myers syndrome
• Smith Martin Dodd syndrome
• Smith-Magenis Syndrome
• Sneddon Syndrome
• Sociophobia
• Soft tissue sarcomas
• Sohval Soffer syndrome
• Somatostatinoma
• Sommer Hines syndrome
• Sommer Rathbun Battles syndrome
• Sommer Young Wee Frye syndrome
• Somniphobia
• Sondheimer syndrome
• Sonoda syndrome
• Sophophobia
• Sosby syndrome
• Sotos syndrome
• Southwestern Athabaskan genetic diseases
• Sparse hair ptosis mental retardation
• Spasmodic dysphonia
• Spasmodic torticollis
• Spastic angina with healthy coronary artery
• Spastic ataxia Charlevoix-Saguenay type
• Spastic diplegia infantile type
• Spastic dysphonia
• Spastic paraparesis deafness
• Spastic paraparesis, infantile
• Spastic paraparesis
• Spastic paraplegia epilepsy mental retardation
• Spastic paraplegia facial cutaneous lesions
• Spastic paraplegia familial autosomal recessive form
• Spastic paraplegia glaucoma precocious puberty
• Spastic paraplegia mental retardation corpus callosum
• Spastic paraplegia nephritis deafness
• Spastic paraplegia neuropathy poikiloderma
• Spastic paraplegia type 1, X-linked
• Spastic paraplegia type 2, X-linked
• Spastic paraplegia type 3, dominant
• Spastic paraplegia type 4, dominant
• Spastic paraplegia type 5A, recessive
• Spastic paraplegia type 5B, recessive
• Spastic paraplegia type 6, dominant
• Spastic paraplegia, familial
• Spastic paresis glaucoma mental retardation
• Spastic quadriplegia retinitis pigmentosa mental retardation
• Spasticity mental retardation
• Spasticity multiple exostoses
• Spatic paraparesis vitiligo premature graying
• Spellacy gibbs watts syndrome
• Spermatogenesis arrest
• Spherocytosis
• Spherophakia brachymorphia syndrome
• Sphingolipidosis
• Spielmeyer-Vogt disease
• Spina bifida hypospadias
• Spinal atrophy ophthalmoplegia pyramidal syndrome
• Spinal bulbar motor neuropathy
• Spinal bulbar muscular atrophy
• Spinal cord disorder
• Spinal cord injury
• Spinal cord neoplasm
• Spinal dysostosis type Anhalt
• Spinal muscular atrophy type 1
• Spinal muscular atrophy type 2
• Spinal muscular atrophy type 3
• Spinal muscular atrophy type I with congenital bone fractures
• Spinal muscular atrophy
• Spinal shock
• Spinal stenosis
• Spine rigid cardiomyopathy
• Spinocerebellar ataxia 1
• Spinocerebellar ataxia 2
• Spinocerebellar ataxia 4
• Spinocerebellar ataxia 5
• Spinocerebellar ataxia 6
• Spinocerebellar ataxia 7
• Spinocerebellar ataxia 8
• Spinocerebellar ataxia amyotrophy deafness
• Spinocerebellar ataxia dysmorphism
• Spinocerebellar atrophy type 3
• Spinocerebellar degeneration corneal dystrophy
• Spinocerebellar degenerescence book type
• Spirochetes disease
• Spirurida Infections
• Spleen neoplasm
• Splenic agenesis syndrome
• Splenogonadal fusion limb defects micrognatia
• Splenomegaly
• Split hand deformity mandibulofacial dysostosis
• Split hand split foot malformation autosomal reces
• Split hand split foot mandibular hypoplasia
• Split hand split foot nystagmus
• Split hand split foot X linked
• Split hand urinary anomalies spina bifida
• Split-hand deformity
• Sponastrime dysplasia
• Spondylarthritis
• Spondylarthropathies
• Spondylarthropathy
• Spondylitis
• Spondylo camptodactyly syndrome
• Spondylo costal dysostosis dandy walker
• Spondylocarpotarsal synostosis
• Spondylocostal dysplasia dominant
• Spondylodysplasia brachyolmia
• Spondyloenchondrodysplasia
• Spondyloepimetaphyseal dysplasia congenita, Iraqi
• Spondyloepimetaphyseal dysplasia congenita, Strudw
• Spondyloepimetaphyseal dysplasia joint laxity
• Spondyloepimetaphyseal dysplasia
• Spondyloepiphyseal dysplasia nephrotic syndrome
• Spondyloepiphyseal dysplasia tarda progressive art
• Spondyloepiphyseal dysplasia tarda
• Spondyloepiphyseal dysplasia, congenital type
• Spondyloepiphyseal dysplasia
• Spondylohypoplasia arthrogryposis popliteal pteryg
• Spondylometaphyseal dysplasia, 'corner fracture' t
• Spondylometaphyseal dysplasia, Schmidt type
• Spondylometaphyseal dysplasia, Sedaghatian type
• Spondylometaphyseal dysplasia, X-linked
• Spondylometaphyseal dysplasia
• Spondyloperipheral dysplasia short ulna
• Spongiform encephalopathy
• Spongy degeneration of central nervous system
• Spontaneous periodic hypothermia
• Spontaneous pneumothorax familial type
• Sporotrichosis
• Spotted fever
• Spranger schinzel yers syndrome
• Sprengel deformity
• Squamous cell carcinoma
• SSADH (succinic semialdehyde dehydrogenase deficiency)
• SSPE (subacute sclerosing panencephalitis)
• St. Anthony's fire
• Stalker chitayat syndrome
• Stampe sorensen syndrome
• Stargardt's disease
• Steatocystoma multiplex natal teeth
• Steatocystoma multiplex
• Steele Richardson Olszewski syndrome, atypical
• Steinfeld syndrome
• Stein-Leventhal syndrome
• Stenophobia
• Sterility due to immotile flagella
• Stern lubinsky durrie syndrome
• Sternal cleft
• Sternal cyst vascular anomalies
• Sternal malformation vascular dysplasia associatio
• Steroid dehydrogenase deficiency dental anomalies
• Stevens-Johnson syndrome
• Stickler syndrome, type 1
• Stickler syndrome, type 2
• Stickler syndrome, type 3
• Stickler syndrome
• Stiff man syndrome
• Stiff skin syndrome
• Still's disease
• Stimmler syndrome
• Stoelinga de koomen davis syndrome
• Stoll alembik dott syndrome
• Stoll alembik finck syndrome
• Stoll geraudel chauvin syndrome
• Stoll kieny dott syndrome
• Stoll levy francfort syndrome
• Stomach cancer, familial
• Stomach cancer
• Storage pool platelet disease
• Stormorken sjaastad langslet syndrome
• Strabismus
• Stratton garcia young syndrome
• Stratton parker syndrome
• Streeter's (Amniotic Bands)
• Streptococcus, Group B
• Striatonigral degeneration infantile
• Strongyloidiasis
• Strudwick Syndrome
• Strumpell-lorrain disease
• Stuart factor deficiency, congenital
• Stuccokeratosis
• Sturge-Weber syndrome
• Stuve Wiedemann dysplasia
• Subacute cerebellar degeneration
• Subacute sclerosing leucoencephalitis
• Subacute sclerosing panencephalitis
• Subaortic stenosis short stature syndrome
• Subcortical laminar heterotopia
• Subependymal nodular heterotopia
• Subpulmonary stenosis
• Subvalvular aortic stenosis
• Succinate coenzyme Q reductase deficiency of
• Succinic acidemia lactic acidosis congenital
• Succinic acidemia
• Succinic semialdehyde dehydrogenase deficiency
• Succinyl-CoA acetoacetate transferase deficiency
• Sucrase-isomaltase deficiency
• Sudden infant death syndrome
• Sugarman syndrome
• Sulfatidosis juvenile, Austin type
• Sulfite and xanthine oxydase deficiency
• Sulfite oxidase deficiency
• Summitt syndrome
• Super mesenteric artery syndrome
• Supranuclear ocular palsy
• Supraumbilical midabdominal raphe and facial cavernous hemangiomas
• Suriphobia
• Susac syndrome
• Sutherland Haan syndrome
• Sutton disease II
• Sutton's Disease II
• Sweet syndrome
• Swyer James and McLeod Syndrome
• Swyer syndrome
• Sybert Smith syndrome
• Sydenham's chorea
• Symmetrical thalamic calcifications
• Symphalangism brachydactyly craniosynostosis
• Symphalangism brachydactyly
• Symphalangism Cushing type
• Symphalangism distal
• Symphalangism familial proximal
• Symphalangism short stature accessory testis
• Symphalangism with multiple anomalies of hands and feet
• Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch
• Syncamptodactyly scoliosis
• Syncopal paroxysmal tachycardia
• Syncopal tachyarythmia
• Syncope
• Syndactyly between 4 and 5
• Syndactyly cataract mental retardation
• Syndactyly Cenani Lenz type
• Syndactyly ectodermal dysplasia cleft lip palate hand foot
• Syndactyly type 1 microcephaly mental retardation
• Syndactyly type 2
• Syndactyly type 3
• Syndactyly type 5
• Syndactyly
• Syndactyly-polydactyly-ear lobe syndrome
• Syndrome X
• Syngnathia cleft palate
• Syngnathia multiple anomalies
• Synostosis of talus and calcaneus short stature
• Synovial cancer
• Synovial osteochondromatosis
• Synovial sarcoma
• Synovialosarcoma
• Synovitis acne pustulosis hyperostosis osteitis
• Synovitis granulomatous uveitis cranial neuropathi
• Synovitis
• Synpolydactyly
• Syphilis embryopathy
• Syphilis
• Syringobulbia
• Syringocystadenoma papilliferum
• Syringomas natal teeth oligodontia
• Syringomelia hyperkeratosis
• Syringomyelia
• Systemic arterio-veinous fistula
• Systemic carnitine deficiency
• Systemic lupus erythematosus
• Systemic mastocytosis
• Systemic necrotizing angeitis
• Systemic sclerosis

This article was originally based on content from the NIH public domain resource at http://ord.aspensys.com/diseases.asp. Update as needed.

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