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S-adenosylhomocysteine hydrolase deficiency see hypermethioninemia
s: Birth Defects
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
Saldino-Mainzer dysplasia see Mainzer-Saldino syndrome
Saldino-Mainzer syndrome see Mainzer-Saldino syndrome
Salih myopathy
San Luis Valley syndrome see recombinant 8 syndrome
Sandhoff disease
SANDO see ataxia neuropathy spectrum
Sanfilippo syndrome see mucopolysaccharidosis type III
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-L�ken 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
S�zary syndrome
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
short stature-onychodysplasia see Coffin-Siris syndrome
Shoulder Girdle Neuropathy see hereditary neuralgic amyotrophy
Shprintzen-Goldberg syndrome
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
Siemerling-Creutzfeldt disease see X-linked adrenoleukodystrophy
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
sitosterolaemia see sitosterolemia
sitosterolemia
Sj�gren-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 Sj�gren-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 tarda with progressive arthropathy see progressive pseudorheumatoid 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
4H syndrome see Pol III-related leukodystrophy
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 juvenile rheumatoid arthritis see juvenile idiopathic arthritis
systemic scleroderma