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S-adenosylhomocysteine hydrolase deficiency see hypermethioninemia
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SADDAN
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Saethre-Chotzen syndrome
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Sandhoff disease
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Sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome see Li-Fraumeni syndrome
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Sarcoma family syndrome of Li and Fraumeni see Li-Fraumeni syndrome
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SBCADD see 2-methylbutyryl-coenzyme A dehydrogenase deficiency
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SBLA syndrome see Li-Fraumeni syndrome
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SBMA see spinal and bulbar muscular atrophy
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SC phocomelia syndrome see Roberts syndrome
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SC pseudothalidomide syndrome see Roberts syndrome
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SC syndrome see Roberts syndrome
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SCAD deficiency see short-chain acyl-coenzyme A dehydrogenase deficiency
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SCADH deficiency see short-chain acyl-coenzyme A dehydrogenase deficiency
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SCAN2 see ataxia with oculomotor apraxia
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SCAR1 see ataxia with oculomotor apraxia
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SCD see sickle cell disease
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SCHAD deficiency see 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
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Scheie Syndrome see mucopolysaccharidosis type I
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Schilder-Addison Complex see X-linked adrenoleukodystrophy
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Schimke immuno-osseous dysplasia
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Schwannoma, Acoustic, Bilateral see neurofibromatosis type 2
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SCID due to ADA deficiency see adenosine deaminase deficiency
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SCIDX1 see X-linked severe combined immunodeficiency
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sclerosis; brain, Pelizaeus-Merzbacher see Pelizaeus-Merzbacher disease
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sclerosis tuberosa see tuberous sclerosis
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Scoliosis see X-linked spondyloepiphyseal dysplasia tarda
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SCS see Saethre-Chotzen syndrome
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SDAT see Alzheimer disease
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SDS see Shwachman-Diamond syndrome
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SDYS see Simpson-Golabi-Behmel syndrome
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SED congenita see spondyloepiphyseal dysplasia congenita
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SED Strudwick see spondyloepimetaphyseal dysplasia, Strudwick type
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SED tarda see X-linked spondyloepiphyseal dysplasia tarda
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SEDc see spondyloepiphyseal dysplasia congenita
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Sedlackova syndrome see 22q11.2 deletion syndrome
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Seip syndrome see Berardinelli-Seip congenital lipodystrophy
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Seitelberger disease see infantile neuroaxonal dystrophy
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Seizures
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SEMD, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type
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sensorineural deafness-imperforate anus-hypoplastic thumbs syndrome see Townes-Brocks Syndrome
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Severe achondroplasia with developmental delay and acanthosis nigricans see SADDAN
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severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency see adenosine deaminase deficiency
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SGBS see Simpson-Golabi-Behmel syndrome
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short/branched-chain acyl-CoA dehydrogenase deficiency see 2-methylbutyryl-coenzyme A dehydrogenase deficiency
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short-chain acyl-coenzyme A dehydrogenase deficiency
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short QT syndrome
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Shprintzen syndrome see 22q11.2 deletion syndrome
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Shwachman-Bodian-Diamond syndrome see Shwachman-Diamond syndrome
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Shwachman-Bodian syndrome see Shwachman-Diamond syndrome
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Shwachman-Diamond syndrome
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Shwachman syndrome see Shwachman-Diamond syndrome
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Shy-Magee Syndrome see central core disease
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SI deficiency see congenital sucrase-isomaltase deficiency
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sialic acid storage disease
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sialuria
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sialuria, Finnish type see sialic acid storage disease
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Sickle Cell Anemia see sickle cell disease
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sickle cell disease
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Sickling disorder due to hemoglobin S see sickle cell disease
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Siegal-Cattan-Mamou disease see familial Mediterranean fever
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Silver-Russell Dwarfism see Russell-Silver syndrome
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Silver-Russell syndrome see Russell-Silver syndrome
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Simpson dysplasia syndrome see Simpson-Golabi-Behmel syndrome
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Simpson-Golabi-Behmel syndrome
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Simpson syndrome see Simpson-Golabi-Behmel syndrome
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SIOD see Schimke immuno-osseous dysplasia
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Skeleton-skin-brain syndrome see SADDAN
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Skin Cancer see Gorlin syndrome
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Skin Conditions
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Skin Pigmentation Disorders
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SLO syndrome see Smith-Lemli-Opitz syndrome
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SLOS see Smith-Lemli-Opitz syndrome
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SMA see spinal muscular atrophy
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SMED, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type
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SMED, type I see spondyloepimetaphyseal dysplasia, Strudwick type
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Smith-Lemli-Opitz syndrome
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Smith-Magenis syndrome
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SMS see Smith-Magenis syndrome
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sodium channel myotonia see potassium-aggravated myotonia
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Soft Tissue Sarcoma
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Sotos syndrome
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spastic ataxia, Charlevoix-Saguenay type see autosomal recessive spastic ataxia of Charlevoix-Saguenay
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spastic ataxia of Charlevoix-Saguenay see autosomal recessive spastic ataxia of Charlevoix-Saguenay
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spastic paralysis, infantile onset ascending see infantile-onset ascending hereditary spastic paralysis
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spastic paraparesis, childhood-onset, with distal muscle wasting see Troyer syndrome
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spastic paraplegia 20, autosomal recessive see Troyer syndrome
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spastic paraplegia, autosomal recessive, Troyer type see Troyer syndrome
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Spastic Paraplegia, Hereditary
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spastic paraplegia type 2
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spastic paraplegia type 3A
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spastic paraplegia type 4
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spastic paraplegia type 7
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SPD see spondyloperipheral dysplasia
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Speech and Communication Disorders
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SPG1 see L1 syndrome
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SPG20 see Troyer syndrome
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SPG3A see spastic paraplegia type 3A
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Spherophakia-brachymorphia syndrome see Weill-Marchesani syndrome
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Sphingolipidosis, Tay-Sachs see Tay-Sachs disease
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Sphingomyelin/cholesterol lipidosis see Niemann-Pick disease
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Sphingomyelin lipidosis see Niemann-Pick disease
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Sphingomyelinase deficiency see Niemann-Pick disease
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spinal and bulbar muscular atrophy
- spinal muscular atrophy see distal hereditary motor neuropathy, type V; spinal and bulbar muscular atrophy; spinal muscular atrophy
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spinal muscular atrophy, distal type V see distal hereditary motor neuropathy, type V
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spinal muscular atrophy, distal, with upper limb predominance see distal hereditary motor neuropathy, type V
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Spinocerebellar Ataxia, Friedreich see Friedreich ataxia
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spinocerebellar ataxia, recessive, non-Friedreich type 1 see ataxia with oculomotor apraxia
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spinocerebellar ataxia with axonal neuropathy type 2 see ataxia with oculomotor apraxia
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Spinocerebellar Degenerations
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Spondylarthritis Ankylopoietica see ankylosing spondylitis
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Spondylitis ankylopoietica see ankylosing spondylitis
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Spondylitis, Ankylosing see ankylosing spondylitis
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Spondyloarthritis Ankylopoietica see ankylosing spondylitis
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spondyloarthropathy with short third and fourth toes see Czech dysplasia
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spondyloepimetaphyseal dysplasia, Strudwick type
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Spondyloepiphyseal Dysplasia see X-linked spondyloepiphyseal dysplasia tarda
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spondyloepiphyseal dysplasia congenita
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Spondylometaepiphyseal dysplasia congenita, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type
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Spondylometaphyseal dysplasia (SMD) see spondyloepimetaphyseal dysplasia, Strudwick type
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spondyloperipheral dysplasia
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Spongy degeneration of central nervous system see Canavan disease
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Spongy degeneration of the brain see Canavan disease
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Spongy degeneration of white matter in infancy see Canavan disease
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sporadic primary pulmonary hypertension see pulmonary arterial hypertension
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SQTS see short QT syndrome
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SRS see Russell-Silver syndrome
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SSADH deficiency see succinic semialdehyde dehydrogenase deficiency
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SSB syndrome see SADDAN
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Stale fish syndrome see trimethylaminuria
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Steely Hair Syndrome see Menkes syndrome
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Steroid 5-alpha-reductase deficiency see 5-alpha reductase deficiency
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Stickler syndrome
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Stroke
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Strudwick syndrome see spondyloepimetaphyseal dysplasia, Strudwick type
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succinic semialdehyde dehydrogenase deficiency
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Sudden unexpected nocturnal death syndrome see Brugada syndrome
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Sudden unexplained death syndrome see Brugada syndrome
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SUDS see Brugada syndrome
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Sulfatide Lipidosis see metachromatic leukodystrophy
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Sulfatidosis see metachromatic leukodystrophy
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Supernumary der(22) syndrome see Emanuel syndrome
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Supernumary der(22)t(11;22) syndrome see Emanuel syndrome
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Supernumary derivative 22 chromosome syndrome see Emanuel syndrome
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Supravalvar aortic stenosis syndrome see Williams syndrome
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Surdo-cardiac syndrome see Jervell and Lange-Nielsen syndrome
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Swallowing Disorders see oculopharyngeal muscular dystrophy
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Swiss cheese cartilage dysplasia see Kniest dysplasia
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Swiss type amyloid polyneuropathy see transthyretin amyloidosis
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Swyer syndrome
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4p- syndrome see Wolf-Hirschhorn syndrome
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5p- Syndrome see cri-du-chat syndrome
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17p- syndrome see Smith-Magenis syndrome
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Systemic carnitine deficiency see primary carnitine deficiency
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systemic hemosiderosis due to aceruloplasminemia see aceruloplasminemia
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Systemic hyalinosis see juvenile hyaline fibromatosis
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Published: January 23, 2009