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