This list of rare diseases was originally taken from the NIH public domain resource at http://ord.aspensys.com/asp/diseases/diseases.asp .

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.