List rare diseases starting with an S
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This list contains several hundreds of rare diseases.
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Sb
- Saal bulas, syndrome of
- Saal greenstein, syndrome of
- Sabinas, syndrome of
- Sabouraud, syndrome of
- Saccharopine déshydrogénase, deficit in
- Saccharopinurie
- Sackey sakati aur, syndrome of
- Sacrum sterility of the
- Sacrum former anomaly
- Saethre-Chotzen, syndrome of
- Saito kuba tsuruta syndrome of
- Sakati nyhan syndrome of
- Salcedo syndrome of
- Salerno-Andria, syndrome of
- Salted, disease of
- Sallis beighton syndrome of
- Salmonellose
- Salti salem syndrome of
- Sammartino decreccio syndrome of
- Samson gardner syndrome of
- Samson viljoen syndrome of
- Sanderson fraser syndrome of
- Sandhaus Ben friendly syndrome of
- Sandhoff, disease of
- Sandrow sullivan steel syndrome of
- Sanfilippo, disease of
- Sanjad-Sakati, syndrome of
- Santavuori, disease of
- Santos mateus leal syndrome of
- SAPHO syndrome
- Sarcocystose
- Sarcoidosis
- Sarcome de Kaposi
- Sarcome d' Ewing
- Sarcome osteogenetic
- Sarcosinémie
- Sarcosporidiose
- Sato-Ilida, syndrome of
- Satoyoshi syndrome of
- Saul wilkes stevenson syndrome of
- Say to bore hobbs syndrome of
- Say to bore miller syndrome of
- Say carpenter syndrome of
- Say field coldwell syndrome of
- Say meyer syndrome of
Sc-Sd
- SCAD, deficit in
- iliaque Scaphocéphalie
- Scapulo dysostose
- Scarf syndrome
- staphylococcic Scarlet fever
- Schaap Taylor baraitser syndrome of
- SCHAD, deficit in
- Scheie, disease of
- Scheuermann disease of dominant
- Schiel stengel rutkowski syndrome of
- Schimke syndrome of
- Schindler, disease of
- Schinzel-Giedion, syndrome of
- Schinzel, syndrome of
- Schisis association
- Schizencéphalie
- Schizophrenia, forms genetic
- Schizophrenia backwardness deafness retinite
- Schlegelberger grote syndrome of
- Schmidt syndrome of
- Schmitt gillenwater kelly syndrome of
- Schneckenbecken dysplasy of
- Schnitzler, syndrome of
- Schofer beetz bohl syndrome of
- Scholte begeer van essen syndrome of
- Schopf-Schulz-Passarge, syndrome of
- Schrander stumpel theunissen hulsmans syndrome of
- Schroer hammer mauldin syndrome of
- malignant Schwannome
- Schwartz-Jampel, syndrome of
- Schwartz newark syndrome of
- Schweitzer kemink malcolm syndrome of
- Sclérocornée syndactylie sexual ambiguity
- Scleroderma
- Multiple sclerosis
- Multiple sclerosis ichtyose deficit in factor 8
- amyotrophic side Sclerosis
- primitive side Sclerosis
- Sclerose mésangiale diffuses
- Sclérose tuberose of Bourneville
- Sclérostéose
- Scoditti geminiani colonna syndrome of
- idiopathic Scoliose of the teenager
- SCOT, deficit in
- Scott bryant graham syndrome of
- Scott, syndrome of
- Scott taor syndrome of
- SC phocomélie
-Sg
- Seaver cassidy syndrome of
- Sebastian, syndrome of
- Sébocystomatose
- standard Seckel like syndrome buebel
- standard Seckel like syndrome majoor krakauer
- Seckel, syndrome of
- Seemanova lesny syndrome of
- Seemanova syndrome of the type 2
- Segawa, syndrome of
- Seghers syndrome of
- Segmentation costovertebrale anomaly mesomelie
- Selig benacerraf greene syndrome of
- Sellars beighton succinic syndrome of
- Semialdéhyde déshydrogénase, deficit in
- Séminome
- Semmekrot haraldsson weemaes syndrome of
- Sengers hamel otten syndrome of
- Sengers, syndrome of
- Senior loken syndrome of
- Senior syndrome of
- Sensenbrenner syndrome
- Senter syndrome of
- Seow najjar syndrome
- Sequeiros sack syndrome of
- Sequence D anomalies of the lower mesoderme
- vascular Sequence of disruption
- Sequence of potter slit pulmonary cardiopathy
- Sequestration
- Sérotoninergique, syndrome
- Setleis syndrome of
- Sézary, syndrome of
HS
- Shapiro, syndrome of
- Sharma kapoor ramji syndrome
- Sharp, syndrome of
- Shigellosis
- Shith filkins syndrome of
- Shokeir syndrome of
- Shorts syndrome
- Shprintzen Goldberg craniosynostose syndrome
- Shprintzen omphalocele syndrome
- Shulman, syndrome of
- cerebral arteriovenous Shunt
- Shwachman-Diamond, syndrome of
- Shy-Drager, syndrome of
If
- Sialidose types 1 and 2
- standard Sialurie French
- Sidransky feinstein Goodman syndrome of
- Siegler brewer carey syndrome of
- Silengo lerone pelizza syndrome
- Silence syndrome of
- Silver-Russell, syndrome of
- Simosa syndrome
- Simpson-Golabi-Behmel, syndrome of
- Singh chhaparwal dhanda syndrome of
- Singh-Williams-McAlister, syndrome of
- Sipple, syndrome of
- Sirénomélie
- Maple syrup, disease of the
- Sitostérolémie
- Situs inversus-cardiopathy
- Situs inversus related to X
Sj
- Sjögren-Larsson like, syndrome
- Sjögren-Larsson, syndrome of
Sk
SSL
- Slavotinek Hurst, syndrome of
- Sly, disease of
Sm
- Smith Fineman Myers, syndrome of
- Smith-Lemli-Opitz, syndrome of
- Smith-Magenis, syndrome of
- Smith Martin Dodd, syndrome
Sn
- Sneddon, syndrome of
- Sneddon-Wilkinson, disease of
So
- Sohval Soffer, syndrome of
- Solomon, syndrome of
- To summon Hines, syndrome of
- To summon Rathbun Battles, syndrome of
- To summon Young Wee Frye, syndrome of
- Sondheimer, syndrome of
- Sonoda, syndrome of
- Sorsby syndrome of
- Sotos, syndrome of
- Eyebrows duplication syndactylie
- Eyebrows and lashes absence of backwardness
Sp
- infantile Spasms
- infantile Spasms broad inches
- Spasticite exostoses multiple
- Spasticite backwardness
- Spellacy gibbs Watts syndrome of
- hereditary Sphérocytose
- Spherophakie brachymorphie
- Sphingomyélinase, deficit in
- Spina bifida
- Spina bifida hypospadias
- Spino cerebelleuse degeneration corneal dystrophy
- Spino cerebelleuse standard degeneration book
- Splénomégalie myéloïde
- Spondylarthrite ankylosante
- Spondylo camptodactylie syndrome
- Sporotrichosis
- Sprengel nontropical anomaly of
- Sprue secondary
Sq-Sr
- cardiac Squeletto syndrome with thrombocytopenia
St
- Stalker-Chitayat, syndrome of
- Country rock-Sorensen, syndrome of
- Stargardt, disease of
- STAR protein, deficit in
- Stéatocystome teeth néonatales
- nonalcoholic Stéatohépatite
- Steele-Richardson-Olszewski, disease of
- Steinert, congenital disease of
- Steinfeld syndrome of
- Stein-Leventhal, syndrome of
- Sténose of the cervical medullary canal
- Sténose of the aqueduct of Sylvius, related to X
- Sténose of the pulmonary branches
- Stenose of the pulmonary veins
- Sténose pulmonary-spots coffee with milk
- Stenoses multiples brachydactylie
- under-pulmonary Sténose
- Stenose subaortic aortic small size
- Sténose supravalvulaire
- pulmonary Stenose supra valvular
- pulmonary valvular Sténose
- male Sterility by délétions of Y
- Stern-Lubinsky-Durrie, syndrome of
- Sternum, malformation vascular dysplasy
- Steroid deshydrogenase dental anomalies deficit in
- Steroid sulfatase, deficit in
- Sterol 27-hydroxylase, deficit in
- C5 Sterol - désaturase, deficit in
- Sterol-delta8-isomérase, deficit in
- Stevens-Johnson, syndrome of
- Stickler, syndrome of
- Stiff baby syndrome
- Stiff-man syndrome
- Still of the adult, disease of
- Stimmler syndrome of
- Stoelinga of koomen davis syndrome of
- Stoll alembik dott syndrome of
- Stoll alembik finck syndrome of
- Stoll geraudel chauvinistic syndrome of
- Stoll kieny dott syndrome of
- Stoll levy Frankfurt hereditary syndrome of
- Stomatocytose with dehydrated red blood corpuscles
- hereditary Stomatocytose with hyperhydratées red blood corpuscles
- Stormorken sjaastad langslet syndrome of
- Stratton garcia Young syndrome of
- Stratton Parker Strümpell-Lorraine syndrome of
- , disease of
- Stuccokératose
- Sturge weber anomaly of
- Stuve wiedemann syndrome of
Known-Sv
- white Substance hypoplasy callous body sterility backwardness
- Succinate coenzyme Q réductase, deficit in
- Succinic acidemy congenital lactic acidosis
- Succinyl-CoA acétoacétate transférase, deficit in
- Invert sugar-isomaltase, deficit in
- Sugarman syndrome of
- Sugio-Kajii, syndrome of
- Sujansky leonard syndrome of
- Sulfatases, deficit multiple in
- youthful Sulfatidose standard Austin
- Sulphite and xanthine oxydase, deficit in
- Sulphite oxydase, deficit in
- Summit syndrome of
- SUNCT, syndrome
- Overload in free acid sialic, disease of
- Deafness-acidosis tubular-weakens
- Surdite alopecie hypogonadism
- Surdite atrophies optical
- Surdite atrophies optical insanity
- branchiogenic Surdité
- Surdite blindness hypopigmentation
- Surdite hair depigmentes diminish
- congenital Surdite onychodystrophie recessive
- Surdite of conduction micrognathy
- Surdite of conduction outer ear anomaly
- Surdité of nonsyndromic perception, dominant, DFNA
- Surdité of perception nonsyndromic, recessive, DFNB
- Surdite diverticulose neuropathy
- Surdite dysplasy epiphysaire small size
- Surdite skeletal dysplasy lip anomaly
- Deafness-dystonie-atrophies optical, syndrome
- Surdite email hypoplasy punctuated nails anomaly
- Surdite goiter epiphyses
- Surdite hypogonadism
- Surdite hypospadias synostose metacarpus and metatarses
- Surdite insensitivity has L aldosterone
- isolated Surdité, of transmission mitochondriale
- Surdité related to X, DFN
- Surdité related to X, DFN3
- Surdite lymphoedeme mixed leukemia
- Surdité with perilymphatic dent, been dependant on X
- Surdite mixed backwardness brachydactylie
- pituitary Surdite nanism
- Surdite nephritis rectal malformation ano
- peripheral Surdite neuropathy arteriopathy
- nonsyndromic neurosensory Surdité, dominant, DFNA
- nonsyndromic neurosensory Surdité, recessive, DFNB
- nonsyndromic Surdité, been dependant on the connexine 26
- standard Surdite oligodontie
- Surdite onychodystrophie dominating
- Surdite abnormal ear facial paralysis
- progressive Surdite cataract forms autosomic dominant
- progressive Surdité due to the ankylosis of the ossicles
- Surdite ptosis skeleton anomalies
- Surdite symphalangism
- Surdite mitral valve skeleton anomalies
- Surdite vitiligo achalasy
- Surfactant SP-B, protein congenital deficit of the
- Surtide cranio facial syndrome deafness
- Susac syndrome of
- Susceptibilité to the chronic infections by the virus of Epstein-Barr
- Sutherland haan syndrome
Sw-Sx
- Sweet, syndrome of
- Swyer, syndrome of
Sy-Sz
- Sybert smith syndrome of
- Symcamptodactylie asymmetry scoliosis
- Symphalangie anomalies multiple hands and feet
- Symphalangisme brachydactylie
- Symphalangisme brachydactylie craniosynostose
- distal Symphalangisme
- family Symphalangisme proximal
- Symphalangisme standard small size
- Symphalangisme cushing
- Syndactylie cataract backwardness
- Syndactylie ectodermal dysplasy palatine slit labio
- Syndactylie between 4 and 5
- abnormal Syndactylie-polydactyly-lobe of the ear
- Syndactylie (generic term)
- standard Syndactylie 1
- standard Syndactylie 1 microcephalus backwardness
- standard Syndactylie 2
- standard Syndactylie 3
- standard Syndactylie 4
- standard Syndactylie 5
- standard Syndactylie cenani Lenz
- Syngnathie multiple anomalies
- Syngnathie palatine slit
- Synostose coronale syndactylie jejunal atresy
- Synostose humero radial
- Synostose humero radio cubital
- Synostose lambdoide family
- Synostose microcephalus dominant scoliosis
- Synostose radio-cubital
- Synostose radiocubitale backwardness hypotonia
- pigmentary Synostose radiocubitale retinite
- Synostoses multiples disease of the
- Synostose spondylo carpo tarsienne
- Synovialosarcome
- Synovite-Acne-Pustulose-Hyperostose-Ostéite (SAPHO)
- Synovite uveite cranial neuropathy
- Synpolydactylie
- congenital Synspondylisme
- Synthese of the plasmalogenes deficit isolates from the congenital
- Syphilis
- Syringocystadénome papillifère
- Syringomes teeth neonatales oligodontie
- Syringomyélie
- Syringomyelie hyperkeratose
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