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S-adenosylhomocysteine hydrolase deficiency see hypermethioninemia
saccharopine dehydrogenase deficiency disease see hyperlysinemia
SADDAN
Saethre-Chotzen syndrome
San Luis Valley syndrome see recombinant 8 syndrome
Sandhoff disease
Sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome see Li-Fraumeni syndrome
Sarcoma family syndrome of Li and Fraumeni see Li-Fraumeni syndrome
SBCADD see 2-methylbutyryl-coenzyme A 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
SCAD deficiency see short-chain acyl-coenzyme A dehydrogenase deficiency
SCADH deficiency see short-chain acyl-coenzyme A dehydrogenase deficiency
SCAN2 see ataxia with oculomotor apraxia
SCAR1 see ataxia with oculomotor apraxia
SCD see sickle cell disease
SCHAD deficiency see 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
Scheie Syndrome see mucopolysaccharidosis type I
Schilder-Addison Complex see X-linked adrenoleukodystrophy
Schimke immuno-osseous dysplasia
Schwannoma, Acoustic, Bilateral see neurofibromatosis type 2
SCID due to ADA deficiency see adenosine deaminase deficiency
SCIDX1 see X-linked severe combined immunodeficiency
sclerosis; brain, Pelizaeus-Merzbacher see Pelizaeus-Merzbacher disease
sclerosis tuberosa see tuberous sclerosis complex
sclerosteosis see SOST-related sclerosing bone dysplasia
Scoliosis
SCS see Saethre-Chotzen syndrome
SDAT see Alzheimer disease
SDS see Shwachman-Diamond syndrome
SDYS see Simpson-Golabi-Behmel syndrome
SED congenita see spondyloepiphyseal dysplasia congenita
SED Strudwick see spondyloepimetaphyseal dysplasia, Strudwick type
SED tarda see X-linked spondyloepiphyseal dysplasia tarda
SEDc see spondyloepiphyseal dysplasia congenita
Sedlackova syndrome see 22q11.2 deletion syndrome
Segawa syndrome, autosomal recessive see tyrosine hydroxylase deficiency
Seip syndrome see Berardinelli-Seip congenital lipodystrophy
Seitelberger disease see infantile neuroaxonal dystrophy
Seizures
SEMD, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type
sensorineural deafness-imperforate anus-hypoplastic thumbs syndrome see Townes-Brocks Syndrome
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
SGBS see Simpson-Golabi-Behmel syndrome
short/branched-chain acyl-CoA dehydrogenase deficiency see 2-methylbutyryl-coenzyme A dehydrogenase deficiency
short-chain acyl-coenzyme A 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-Magee Syndrome see central core disease
SI deficiency see congenital sucrase-isomaltase deficiency
sialic acid storage disease
Sialolipidosis see mucolipidosis type IV
sialuria
sialuria, Finnish type see sialic acid storage disease
Sickle Cell Anemia see sickle cell disease
sickle cell disease
Sickling disorder due to hemoglobin S see sickle cell disease
Siegal-Cattan-Mamou disease see familial Mediterranean fever
Silver-Russell Dwarfism see Russell-Silver syndrome
Silver-Russell syndrome see Russell-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
Skeleton-skin-brain syndrome see SADDAN
Skin Cancer see Gorlin syndrome
Skin Conditions
Skin Pigmentation Disorders
SLO syndrome see Smith-Lemli-Opitz syndrome
SLOS see Smith-Lemli-Opitz syndrome
SMA see spinal muscular atrophy
SMAD4-related juvenile polyposis see juvenile polyposis syndrome
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
sodium channel myotonia see potassium-aggravated myotonia
Soft Tissue Sarcoma
SOST-related sclerosing bone dysplasia
SOST sclerosing bone dysplasia see SOST-related sclerosing bone dysplasia
Sotos syndrome
SOX2 anophthalmia syndrome
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 20, autosomal recessive see Troyer syndrome
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
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
SPG20 see Troyer syndrome
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
Spielmeyer-Vogt disease see juvenile Batten disease
spinal and bulbar muscular atrophy
spinal muscular atrophy see distal hereditary motor neuropathy, type V; spinal and bulbar muscular atrophy; 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
Spinocerebellar Ataxia, Friedreich see Friedreich ataxia
spinocerebellar ataxia, recessive, non-Friedreich type 1 see ataxia with oculomotor apraxia
spinocerebellar ataxia with axonal neuropathy type 2 see ataxia with oculomotor apraxia
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
spondyloepimetaphyseal dysplasia, Strudwick type
Spondyloepiphyseal Dysplasia see X-linked spondyloepiphyseal dysplasia tarda
spondyloepiphyseal dysplasia congenita
Spondylometaepiphyseal dysplasia congenita, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type
Spondylometaphyseal dysplasia (SMD) see spondyloepimetaphyseal dysplasia, Strudwick type
spondyloperipheral dysplasia
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
sporadic primary pulmonary hypertension see pulmonary arterial hypertension
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
Steely Hair Syndrome see Menkes syndrome
Steroid 5-alpha-reductase deficiency see 5-alpha reductase deficiency
Stickler syndrome
Stilling-Turk-Duane syndrome see isolated Duane retraction syndrome
Stroke
Strudwick syndrome see spondyloepimetaphyseal dysplasia, Strudwick type
succinate-CoA ligase deficiency see succinate-coenzyme A ligase deficiency
succinate-coenzyme A ligase deficiency
succinic semialdehyde dehydrogenase deficiency
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
Supravalvar aortic stenosis syndrome see Williams syndrome
Surdo-cardiac syndrome see Jervell and Lange-Nielsen syndrome
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
17p- syndrome see Smith-Magenis 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


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