About
Site Map
Contact Us
Search
A service of the
U.S. National Library of Medicine®
Home
Conditions
Genes
Chromosomes
Handbook
Glossary
Resources
Genetic Conditions
>
Browse Conditions
1-9
|
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
S-adenosylhomocysteine hydrolase deficiency
see
hypermethioninemia
saccharopine dehydrogenase deficiency disease
see
hyperlysinemia
sacral agenesis
see
caudal regression syndrome
sacral defect with anterior meningocele
see
caudal regression syndrome
SADDAN
Saethre-Chotzen syndrome
Salih myopathy
San Luis Valley syndrome
see
recombinant 8 syndrome
Sandhoff disease
SANDO
see
ataxia neuropathy spectrum
Sanfilippo syndrome
see
mucopolysaccharidosis type III
Sarcoidosis
see
Blau syndrome
Sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome
see
Li-Fraumeni syndrome
Sarcoma family syndrome of Li and Fraumeni
see
Li-Fraumeni syndrome
Say-Barber-Biesecker-Young-Simpson syndrome
see
Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome
see
Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
SBBYS variant of Ohdo syndrome
see
Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
SBBYSS
see
Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
SBCADD
see
2-methylbutyryl-CoA dehydrogenase deficiency
SBLA syndrome
see
Li-Fraumeni syndrome
SBMA
see
spinal and bulbar muscular atrophy
SC phocomelia syndrome
see
Roberts syndrome
SC pseudothalidomide syndrome
see
Roberts syndrome
SC syndrome
see
Roberts syndrome
SCA1
see
spinocerebellar ataxia type 1
SCA2
see
spinocerebellar ataxia type 2
SCA3
see
spinocerebellar ataxia type 3
SCA6
see
spinocerebellar ataxia type 6
SCAD deficiency
see
short-chain acyl-CoA dehydrogenase deficiency
SCADH deficiency
see
short-chain acyl-CoA dehydrogenase deficiency
SCAE
see
myoclonic epilepsy myopathy sensory ataxia
SCAN2
see
ataxia with oculomotor apraxia
SCAR1
see
ataxia with oculomotor apraxia
SCD
see
sickle cell disease
SCDO
see
spondylocostal dysostosis
SCHAD deficiency
see
3-hydroxyacyl-CoA dehydrogenase deficiency
Scheie syndrome
see
mucopolysaccharidosis type I
Schilder-Addison Complex
see
X-linked adrenoleukodystrophy
Schimke immuno-osseous dysplasia
Schindler disease
Schinzel-Giedion syndrome
Schwannoma, Acoustic, Bilateral
see
neurofibromatosis type 2
SCID due to ADA deficiency
see
adenosine deaminase deficiency
SCIDX1
see
X-linked severe combined immunodeficiency
Scleroderma
see
systemic scleroderma
sclerosing cholangitis
see
primary sclerosing cholangitis
sclerosis; brain, Pelizaeus-Merzbacher
see
Pelizaeus-Merzbacher disease
sclerosis tuberosa
see
tuberous sclerosis complex
sclerosteosis
see
SOST-related sclerosing bone dysplasia
Scoliosis
SCOT deficiency
see
succinyl-CoA:3-ketoacid CoA transferase deficiency
SCS
see
Saethre-Chotzen syndrome
SCT
see
spondylocarpotarsal synostosis syndrome
SDAT
see
Alzheimer disease
SDS
see
Shwachman-Diamond syndrome
SDYS
see
Simpson-Golabi-Behmel syndrome
sebocystomatosis
see
steatocystoma multiplex
SED congenita
see
spondyloepiphyseal dysplasia congenita
SED, Omani type
see
CHST3-related skeletal dysplasia
SED Strudwick
see
spondyloepimetaphyseal dysplasia, Strudwick type
SED tarda
see
X-linked spondyloepiphyseal dysplasia tarda
SED with luxations, CHST3 type
see
CHST3-related skeletal dysplasia
SEDc
see
spondyloepiphyseal dysplasia congenita
Sedlackova syndrome
see
22q11.2 deletion syndrome
Seemanova syndrome
see
Nijmegen breakage syndrome
Segawa syndrome, autosomal recessive
see
tyrosine hydroxylase deficiency
Seip syndrome
see
Berardinelli-Seip congenital lipodystrophy
Seitelberger disease
see
infantile neuroaxonal dystrophy
Seizures
selective T-cell defect
see
ZAP70-related severe combined immunodeficiency
SEMD, Strudwick type
see
spondyloepimetaphyseal dysplasia, Strudwick type
Senior-Løken syndrome
sensorineural deafness and male infertility
sensorineural deafness-imperforate anus-hypoplastic thumbs syndrome
see
Townes-Brocks Syndrome
sensory ataxia neuropathy dysarthria and ophthalmoplegia
see
ataxia neuropathy spectrum
sepiapterin reductase deficiency
septo-optic dysplasia
septooptic dysplasia
see
septo-optic dysplasia
Severe achondroplasia with developmental delay and acanthosis nigricans
see
SADDAN
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
see
adenosine deaminase deficiency
severe congenital neutropenia
severe infantile axonal neuropathy with respiratory failure
see
spinal muscular atrophy with respiratory distress type 1
severe susceptibility to EBV infection
see
X-linked lymphoproliferative disease
severe susceptibility to infectious mononucleosis
see
X-linked lymphoproliferative disease
SFN
see
small fiber neuropathy
SGBS
see
Simpson-Golabi-Behmel syndrome
short/branched-chain acyl-CoA dehydrogenase deficiency
see
2-methylbutyryl-CoA dehydrogenase deficiency
short-chain acyl-CoA dehydrogenase deficiency
short QT syndrome
Shoulder Girdle Neuropathy
see
hereditary neuralgic amyotrophy
Shprintzen syndrome
see
22q11.2 deletion syndrome
Shwachman-Bodian-Diamond syndrome
see
Shwachman-Diamond syndrome
Shwachman-Bodian syndrome
see
Shwachman-Diamond syndrome
Shwachman-Diamond syndrome
Shwachman syndrome
see
Shwachman-Diamond syndrome
Shy-Drager syndrome
see
multiple system atrophy
Shy-Magee Syndrome
see
central core disease
SI deficiency
see
congenital sucrase-isomaltase deficiency
sialic acid storage disease
sialidosis
Sialolipidosis
see
mucolipidosis type IV
sialuria
sialuria, Finnish type
see
sialic acid storage disease
SIANRF
see
spinal muscular atrophy with respiratory distress type 1
Sickle Cell Anemia
see
sickle cell disease
sickle cell disease
Sickling disorder due to hemoglobin S
see
sickle cell disease
Siderosis
see
African iron overload
Siegal-Cattan-Mamou disease
see
familial Mediterranean fever
Silver-Russell Dwarfism
see
Russell-Silver syndrome
Silver-Russell syndrome
see
Russell-Silver syndrome
Silver syndrome
Simpson dysplasia syndrome
see
Simpson-Golabi-Behmel syndrome
Simpson-Golabi-Behmel syndrome
Simpson syndrome
see
Simpson-Golabi-Behmel syndrome
SIOD
see
Schimke immuno-osseous dysplasia
Sjögren-Larsson syndrome
Skeleton-skin-brain syndrome
see
SADDAN
Skin Cancer
Skin Conditions
Skin Pigmentation Disorders
SLC6A8 deficiency
see
X-linked creatine deficiency
SLC6A8-related creatine transporter deficiency
see
X-linked creatine deficiency
Sleep Disorders
SLO syndrome
see
Smith-Lemli-Opitz syndrome
SLOS
see
Smith-Lemli-Opitz syndrome
SLS
see
Sjögren-Larsson syndrome
Sly Syndrome
see
mucopolysaccharidosis type VII
SMA
see
spinal muscular atrophy
SMAD4-related juvenile polyposis
see
juvenile polyposis syndrome
small fiber neuropathy
SMARD1
see
spinal muscular atrophy with respiratory distress type 1
SMED, Strudwick type
see
spondyloepimetaphyseal dysplasia, Strudwick type
SMED, type I
see
spondyloepimetaphyseal dysplasia, Strudwick type
Smith-Lemli-Opitz syndrome
Smith-Magenis syndrome
SMS
see
Smith-Magenis syndrome
SOD
see
septo-optic dysplasia
sodium channel myotonia
see
potassium-aggravated myotonia
Soft Tissue Sarcoma
Sohar-Crisponi syndrome
see
cold-induced sweating syndrome
SOST-related sclerosing bone dysplasia
SOST sclerosing bone dysplasia
see
SOST-related sclerosing bone dysplasia
Sotos syndrome
SOX2 anophthalmia syndrome
spasm of eyelids
see
benign essential blepharospasm
spastic ataxia, Charlevoix-Saguenay type
see
autosomal recessive spastic ataxia of Charlevoix-Saguenay
spastic ataxia of Charlevoix-Saguenay
see
autosomal recessive spastic ataxia of Charlevoix-Saguenay
spastic paralysis, infantile onset ascending
see
infantile-onset ascending hereditary spastic paralysis
spastic paraparesis, childhood-onset, with distal muscle wasting
see
Troyer syndrome
spastic paraplegia 17
see
Silver syndrome
spastic paraplegia 20, autosomal recessive
see
Troyer syndrome
spastic paraplegia 35
see
fatty acid hydroxylase-associated neurodegeneration
spastic paraplegia, autosomal recessive, Troyer type
see
Troyer syndrome
Spastic Paraplegia, Hereditary
spastic paraplegia type 2
spastic paraplegia type 3A
spastic paraplegia type 4
spastic paraplegia type 7
spastic paraplegia type 8
spastic paraplegia type 11
spastic paraplegia with amyotrophy of hands and feet
see
Silver syndrome
SPD
see
spondyloperipheral dysplasia
Speech and Communication Disorders
SPG 8
see
spastic paraplegia type 8
SPG1
see
L1 syndrome
SPG3A
see
spastic paraplegia type 3A
SPG11-related hereditary spastic paraplegia with thin corpus callosum
see
spastic paraplegia type 11
SPG17
see
Silver syndrome
SPG20
see
Troyer syndrome
spherocytic anemia
see
hereditary spherocytosis
spherocytosis, type 1
see
hereditary spherocytosis
Spherophakia-brachymorphia syndrome
see
Weill-Marchesani syndrome
Sphingolipidosis, Tay-Sachs
see
Tay-Sachs disease
Sphingomyelin/cholesterol lipidosis
see
Niemann-Pick disease
Sphingomyelin lipidosis
see
Niemann-Pick disease
Sphingomyelinase deficiency
see
Niemann-Pick disease
Spiegler-Brooke syndrome
see
Brooke-Spiegler syndrome
Spielmeyer-Vogt disease
see
juvenile Batten disease
spina bifida
spinal and bulbar muscular atrophy
Spinal Cord Diseases
Spinal Muscular Atrophies of Childhood
spinal muscular atrophy
spinal muscular atrophy, distal type V
see
distal hereditary motor neuropathy, type V
spinal muscular atrophy, distal, with upper limb predominance
see
distal hereditary motor neuropathy, type V
spinal muscular atrophy with respiratory distress type 1
Spine Injuries and Disorders
spinocerebellar ataxia, recessive, non-Friedreich type 1
see
ataxia with oculomotor apraxia
spinocerebellar ataxia type 1
spinocerebellar ataxia type 2
spinocerebellar ataxia type 3
spinocerebellar ataxia type 6
spinocerebellar ataxia with axonal neuropathy type 2
see
ataxia with oculomotor apraxia
spinocerebellar ataxia with epilepsy
see
myoclonic epilepsy myopathy sensory ataxia
Spinocerebellar Ataxias
Spinocerebellar Degenerations
Spondylarthritis Ankylopoietica
see
ankylosing spondylitis
Spondylitis ankylopoietica
see
ankylosing spondylitis
Spondylitis, Ankylosing
see
ankylosing spondylitis
Spondyloarthritis Ankylopoietica
see
ankylosing spondylitis
spondyloarthropathy with short third and fourth toes
see
Czech dysplasia
spondylocarpotarsal synostosis syndrome
spondylocostal dysostosis
spondyloepimetaphyseal dysplasia, Strudwick type
Spondyloepiphyseal Dysplasia
see
X-linked spondyloepiphyseal dysplasia tarda
spondyloepiphyseal dysplasia congenita
spondyloepiphyseal dysplasia, Omani type
see
CHST3-related skeletal dysplasia
spondyloepiphyseal dysplasia with congenital joint dislocations
see
CHST3-related skeletal dysplasia
spondylohumerofemoral hypoplasia
see
atelosteogenesis type 1
Spondylometaepiphyseal dysplasia congenita, Strudwick type
see
spondyloepimetaphyseal dysplasia, Strudwick type
Spondylometaphyseal dysplasia (SMD)
see
spondyloepimetaphyseal dysplasia, Strudwick type
spondyloperipheral dysplasia
spondylothoracic dysostosis
Spongy degeneration of central nervous system
see
Canavan disease
Spongy degeneration of the brain
see
Canavan disease
Spongy degeneration of white matter in infancy
see
Canavan disease
spontaneous pneumothorax
see
primary spontaneous pneumothorax
sporadic primary pulmonary hypertension
see
pulmonary arterial hypertension
SPR deficiency
see
sepiapterin reductase deficiency
sprue
see
celiac disease
SQTS
see
short QT syndrome
SRS
see
Russell-Silver syndrome
SSADH deficiency
see
succinic semialdehyde dehydrogenase deficiency
SSB syndrome
see
SADDAN
stale fish syndrome
see
trimethylaminuria
Stargardt macular degeneration
startle syndrome
see
hereditary hyperekplexia
STD
see
spondylothoracic dysostosis
steatocystoma multiplex
Steele-Richardson-Olszewski syndrome
see
progressive supranuclear palsy
Steely Hair Syndrome
see
Menkes syndrome
stenosis, aortic supravalvular
see
supravalvular aortic stenosis
stenosis, supravalvular aortic
see
supravalvular aortic stenosis
Steroid 5-alpha-reductase deficiency
see
5-alpha reductase deficiency
steroid 11 beta hydroxylase deficiency
see
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
STGD
see
Stargardt macular degeneration
STHE
see
hereditary hyperekplexia
Stickler syndrome
stiff-baby syndrome
see
hereditary hyperekplexia
Stilling-Turk-Duane syndrome
see
isolated Duane retraction syndrome
striatonigral degeneration
see
multiple system atrophy
striopallidodentate calcinosis
see
familial idiopathic basal ganglia calcification
Stroke
Strudwick syndrome
see
spondyloepimetaphyseal dysplasia, Strudwick type
subacute necrotizing encephalomyelopathy
see
Leigh syndrome
submandibular, ocular, and rectal pain with flushing
see
paroxysmal extreme pain disorder
9q subtelomeric deletion syndrome
see
Kleefstra syndrome
succinate-CoA ligase deficiency
succinate-coenzyme A ligase deficiency
see
succinate-CoA ligase deficiency
succinic semialdehyde dehydrogenase deficiency
succinyl-CoA:3-ketoacid CoA transferase deficiency
succinyl-CoA:3-oxoacid CoA transferase deficiency
see
succinyl-CoA:3-ketoacid CoA transferase deficiency
succinyl-CoA 3-oxoacid transferase deficiency
see
succinyl-CoA:3-ketoacid CoA transferase deficiency
succinyl-CoA:acetoacetate transferase deficiency
see
succinyl-CoA:3-ketoacid CoA transferase deficiency
succinylcholine sensitivity
see
pseudocholinesterase deficiency
Sudden Infant Death Syndrome
see
hereditary hyperekplexia
Sudden unexpected nocturnal death syndrome
see
Brugada syndrome
Sudden unexplained death syndrome
see
Brugada syndrome
SUDS
see
Brugada syndrome
Sulfatide Lipidosis
see
metachromatic leukodystrophy
Sulfatidosis
see
metachromatic leukodystrophy
Supernumary der(22) syndrome
see
Emanuel syndrome
Supernumary der(22)t(11;22) syndrome
see
Emanuel syndrome
Supernumary derivative 22 chromosome syndrome
see
Emanuel syndrome
suppurative hidradenitides
see
hidradenitis suppurativa
suppurative hidradenitis
see
hidradenitis suppurativa
supranuclear palsy, progressive
see
progressive supranuclear palsy
Supravalvar aortic stenosis syndrome
see
Williams syndrome
supravalvular aortic stenosis
Surdo-cardiac syndrome
see
Jervell and Lange-Nielsen syndrome
surfactant dysfunction
Sutherland-Haan syndrome
see
Renpenning syndrome
suxamethonium sensitivity
see
pseudocholinesterase deficiency
SVAS
see
supravalvular aortic stenosis
Swallowing Disorders
see
oculopharyngeal muscular dystrophy
Swiss cheese cartilage dysplasia
see
Kniest dysplasia
Swiss type amyloid polyneuropathy
see
transthyretin amyloidosis
Swyer syndrome
4p- syndrome
see
Wolf-Hirschhorn syndrome
5p- syndrome
see
cri-du-chat syndrome
9q- syndrome
see
Kleefstra syndrome
17p- syndrome
see
Smith-Magenis syndrome
syndromic microphthalmia 3
see
SOX2 anophthalmia syndrome
syndromic microphthalmia-7
see
microphthalmia with linear skin defects syndrome
systemic carnitine deficiency
see
primary carnitine deficiency
systemic hemosiderosis due to aceruloplasminemia
see
aceruloplasminemia
Systemic hyalinosis
see
juvenile hyaline fibromatosis
systemic scleroderma
Published: February 11, 2013