Genetic diseases-S

S-adenosylhomocysteine hydrolase deficiency see Hypermethioninemia
saccharopine dehydrogenase deficiency disease see Hyperlysinemia
saccharopinuria see Hyperlysinemia
sacral agenesis see Caudal regression syndrome
sacral defect with anterior meningocele see Caudal regression syndrome
SAD see Seasonal affective disorder
SADDAN
SADDAN dysplasia see SADDAN
Saethre-Chotzen syndrome
SAHS see Obstructive sleep apnea
Saldino-Mainzer dysplasia see Mainzer-Saldino syndrome
Saldino-Mainzer syndrome see Mainzer-Saldino syndrome
Salih CMD see Early-onset myopathy with fatal cardiomyopathy
Salih congenital muscular dystrophy see Early-onset myopathy with fatal cardiomyopathy
Salih myopathy see Early-onset myopathy with fatal cardiomyopathy
San Luis Valley syndrome see Recombinant 8 syndrome
Sandhoff disease
Sandhoff-Jatzkewitz-Pilz disease see Sandhoff disease
SANDO see Ataxia neuropathy spectrum
Sanfilippo syndrome see Mucopolysaccharidosis type III
Santavuori-Haltia disease see CLN1 disease
Sarcoma family syndrome of Li and Fraumeni see Li-Fraumeni syndrome
Sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome see Li-Fraumeni syndrome
SAS see SATB2-associated syndrome
SATB2-associated syndrome
SAVI see STING-associated vasculopathy with onset in infancy
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 Short/branched chain acyl-CoA dehydrogenase deficiency
SBH see Subcortical band heterotopia
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
SCA36 see Spinocerebellar ataxia type 36
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
scalp defect congenital see Nonsyndromic aplasia cutis congenita
Scalp-ear-nipple syndrome
SCAN2 see Ataxia with oculomotor apraxia
SCAR1 see Ataxia with oculomotor apraxia
SCCHN see Head and neck squamous cell carcinoma
SCD see Sickle cell disease
SCDO see Spondylocostal dysostosis
SCHAD deficiency see 3-hydroxyacyl-CoA dehydrogenase deficiency
Scheie syndrome see Mucopolysaccharidosis type I
Schilder disease see X-linked adrenoleukodystrophy
Schilder-Addison Complex see X-linked adrenoleukodystrophy
Schimke immuno-osseous dysplasia
Schimke immunoosseous dysplasia see Schimke immuno-osseous dysplasia
Schindler disease
Schinzel acrocallosal syndrome see Acrocallosal syndrome
Schinzel Giedion syndrome see Schinzel-Giedion syndrome
Schinzel syndrome 1 see Acrocallosal syndrome
Schinzel-Giedion midface retraction syndrome see Schinzel-Giedion syndrome
Schinzel-Giedion syndrome
schizo-affective psychosis see Schizoaffective disorder
schizo-affective type schizophrenia see Schizoaffective disorder
Schizoaffective disorder
schizoaffective psychosis see Schizoaffective disorder
schizoaffective schizophrenia see Schizoaffective disorder
Schizophrenia
schizophrenia, schizo-affective type see Schizoaffective disorder
schizophreniform psychosis, affective type see Schizoaffective disorder
Schuurs-Hoeijmakers syndrome see PACS1 syndrome
schwannoma, acoustic, bilateral see Neurofibromatosis type 2
Schwannomatosis
Schwartz-Jampel syndrome
Schwartz-Jampel syndrome, type 1 see Schwartz-Jampel syndrome
Schwartz-Jampel type 2 syndrome see Stüve-Wiedemann syndrome
Schwartz-Jampel-Aberfeld syndrome see Schwartz-Jampel syndrome
SCID due to absence of class II HLA antigens see Bare lymphocyte syndrome type II
SCID due to ADA deficiency see Adenosine deaminase deficiency
SCID, HLA class 2-negative see Bare lymphocyte syndrome type II
SCID, HLA class II-negative see Bare lymphocyte syndrome type II
SCIDX1 see X-linked severe combined immunodeficiency
sclerocystic ovarian degeneration see Polycystic ovary syndrome
sclerocystic ovaries see Polycystic ovary syndrome
sclerocystic ovary syndrome see Polycystic ovary syndrome
sclerosing cholangitis see Primary sclerosing cholangitis
sclerosis tuberosa see Tuberous sclerosis complex
sclerosteosis see SOST-related sclerosing bone dysplasia
SCLH see Subcortical band heterotopia
SCN8A encephalopathy see SCN8A-related epilepsy with encephalopathy
SCN8A-related epilepsy with encephalopathy
SCOT deficiency see Succinyl-CoA:3-ketoacid CoA transferase deficiency
SCS see Saethre-Chotzen syndrome
SCT see Spondylocarpotarsal synostosis syndrome
SCT syndrome see Spondylocarpotarsal synostosis syndrome
SD/THE see Trichohepatoenteric syndrome
SDAT see Alzheimer disease
SDS see Multiple system atrophy
SDS see Shwachman-Diamond syndrome
SDYS see Simpson-Golabi-Behmel syndrome
seasickness see Motion sickness
Seasonal affective disorder
seasonal depression see Seasonal affective disorder
seasonal mood disorder see Seasonal affective disorder
sebocystomatosis see Steatocystoma multiplex
secreto-inhibitor-xerodermostenosis see Sjögren syndrome
SED congenita see Spondyloepiphyseal dysplasia congenita
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
SED with metatarsal shortening see Czech dysplasia
SED, congenital type see Spondyloepiphyseal dysplasia congenita
SED, Omani 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 Congenital generalized lipodystrophy
Seitelberger disease see Infantile neuroaxonal dystrophy
Seitelberger's disease see Infantile neuroaxonal dystrophy
selective T-cell defect see ZAP70-related severe combined immunodeficiency
SEMD, Strudwick type see Spondyloepimetaphyseal dysplasia, Strudwick type
SEN syndrome see Scalp-ear-nipple syndrome
SENDA see Beta-propeller protein-associated neurodegeneration
Senior-Loken syndrome see Senior-Løken syndrome
Senior-Løken syndrome
SENS see Scalp-ear-nipple syndrome
Sensenbrenner syndrome see Cranioectodermal dysplasia
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
SERAC1 defect see MEGDEL syndrome
serpentine fibula-polycystic kidney syndrome see Hajdu-Cheney syndrome
serum prothrombin conversion accelerator deficiency see Factor VII deficiency
SETBP1 disorder
SETBP1 related developmental delay see SETBP1 disorder
SETBP1-related disorder see SETBP1 disorder
SETBP1-related intellectual disability see SETBP1 disorder
Severe achondroplasia with developmental delay and acanthosis nigricans see SADDAN
severe combined immunodeficiency due to absent class II human leukocyte antigens see Bare lymphocyte syndrome type II
severe combined immunodeficiency due to ADA deficiency see Adenosine deaminase deficiency
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency see Adenosine deaminase deficiency
severe combined immunodeficiency, HLA class II-negative see Bare lymphocyte syndrome type II
severe congenital encephalopathy due to MECP2 mutation see MECP2-related severe neonatal encephalopathy
Severe congenital neutropenia
severe GH insensitivity see Laron syndrome
severe infantile axonal neuropathy with respiratory failure see Spinal muscular atrophy with respiratory distress type 1
severe infantile genetic neutropenia see Severe congenital neutropenia
severe neonatal encephalopathy due to MECP2 mutations see MECP2-related severe neonatal encephalopathy
severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion see 5q31.3 microdeletion syndrome
severe susceptibility to EBV infection see X-linked lymphoproliferative disease
severe susceptibility to infectious mononucleosis see X-linked lymphoproliferative disease
Sezary erythroderma see Sézary syndrome
Sezary syndrome see Sézary syndrome
Sezary's lymphoma see Sézary syndrome
SFN see Small fiber neuropathy
SFNP see Small fiber neuropathy
SFPKS see Hajdu-Cheney syndrome
SGBS see Simpson-Golabi-Behmel syndrome
SGBS1 see Simpson-Golabi-Behmel syndrome
Shabbir syndrome see Laryngo-onycho-cutaneous syndrome
Sheldon-Hall syndrome
Shingles
SHM see Sporadic hemiplegic migraine
SHMS see PACS1 syndrome
Short QT syndrome
short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies see KBG syndrome
Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay
short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome see KBG syndrome
short stature-hyperextensibility-Rieger anomaly-teething delay see Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay
short stature-onychodysplasia see Coffin-Siris syndrome
SHORT syndrome see Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay
Short-chain acyl-CoA dehydrogenase deficiency
short-chain acyl-coenzyme A dehydrogenase deficiency see Short-chain acyl-CoA dehydrogenase deficiency
short-rib thoracic dysplasia 9 see Mainzer-Saldino syndrome
short-sighted see Nearsightedness
short-sightedness see Nearsightedness
Short/branched chain acyl-CoA dehydrogenase deficiency
short/branched-chain acyl-CoA dehydrogenase deficiency see Short/branched chain acyl-CoA dehydrogenase deficiency
Shoulder Girdle Neuropathy see Hereditary neuralgic amyotrophy
Shprintzen syndrome see 22q11.2 deletion syndrome
Shprintzen-Goldberg craniosynostosis syndrome see Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome
SHS see Sheldon-Hall syndrome
Shwachman syndrome see Shwachman-Diamond syndrome
Shwachman-Bodian syndrome see Shwachman-Diamond syndrome
Shwachman-Bodian-Diamond syndrome see Shwachman-Diamond syndrome
Shwachman-Diamond syndrome
Shwachman-Diamond-Oski 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
Sialuria, French type see Sialuria
SIANRF see Spinal muscular atrophy with respiratory distress type 1
sicca syndrome see Sjögren syndrome
Sick sinus syndrome
Sickle cell disease
Sickle cell disorders see Sickle cell disease
Sickling disorder due to hemoglobin S see Sickle cell disease
SIDDT see Sudden infant death with dysgenesis of the testes syndrome
Siderius X-linked mental retardation syndrome see X-linked intellectual disability, Siderius type
Siderius-Hamel syndrome see X-linked intellectual disability, Siderius type
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay see TRNT1 deficiency
Siegal-Cattan-Mamou disease see Familial Mediterranean fever
Siemerling-Creutzfeldt disease see X-linked adrenoleukodystrophy
SIFD see TRNT1 deficiency
Silver spastic paraplegia syndrome see Silver syndrome
Silver syndrome
Silver-Russell dwarfism see Russell-Silver syndrome
Silver-Russell syndrome see Russell-Silver syndrome
Simpson dysplasia syndrome see Simpson-Golabi-Behmel syndrome
Simpson syndrome see Simpson-Golabi-Behmel syndrome
Simpson-Golabi-Behmel syndrome
Simpson-Golabi-Behmel syndrome type 1 see Simpson-Golabi-Behmel syndrome
sinus node disease see Sick sinus syndrome
sinus node dysfunction see Sick sinus syndrome
SIOD see Schimke immuno-osseous dysplasia
sitosterolaemia see Sitosterolemia
Sitosterolemia
situs ambiguus see Heterotaxy syndrome
situs ambiguus viscerum see Heterotaxy syndrome
SJA syndrome see Schwartz-Jampel syndrome
Sjogren's syndrome see Sjögren syndrome
Sjogren-Gougerot syndrome see Sjögren syndrome
Sjogren-Larsson syndrome see Sjögren-Larsson syndrome
SJS see Schwartz-Jampel syndrome
SJS1 see Schwartz-Jampel syndrome
SJS2 see Stüve-Wiedemann syndrome
Sjögren syndrome
Sjögren-Larsson syndrome
Skeleton-skin-brain syndrome see SADDAN
SKS see Smith-Kingsmore syndrome
SLC29A3 disorder see Histiocytosis-lymphadenopathy plus syndrome
SLC29A3 spectrum disorder see Histiocytosis-lymphadenopathy plus syndrome
SLC35A2-CDG see SLC35A2-congenital disorder of glycosylation
SLC35A2-congenital disorder of glycosylation
SLC4A1-associated distal renal tubular acidosis
SLC6A8 deficiency see X-linked creatine deficiency
SLC6A8-related creatine transporter deficiency see X-linked creatine deficiency
SLE see Systemic lupus erythematosus
sleep apnea hypopnea syndrome see Obstructive sleep apnea
sleep apnea syndrome, obstructive see Obstructive sleep apnea
sleep apnea, obstructive see Obstructive sleep apnea
sleep apnea/hypopnea syndrome see Obstructive sleep apnea
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
SMA-associated SMA see Spinal muscular atrophy
SMA-LED see Spinal muscular atrophy with lower extremity predominance
SMA-PME see Spinal muscular atrophy with progressive myoclonic epilepsy
Small fiber neuropathy
small nerve fiber neuropathy see Small fiber neuropathy
SMAPME see Spinal muscular atrophy with progressive myoclonic epilepsy
SMARD1 see Spinal muscular atrophy with respiratory distress type 1
SMAX2 see X-linked infantile spinal muscular atrophy
SMED, Strudwick type see Spondyloepimetaphyseal dysplasia, Strudwick type
SMED, type I see Spondyloepimetaphyseal dysplasia, Strudwick type
Smith-Kingsmore syndrome
Smith-Lemli-Opitz syndrome
Smith-Magenis syndrome
SMS see Smith-Magenis syndrome
SND see Sick sinus syndrome
Sneddon syndrome see Adenosine deaminase 2 deficiency
Snyder-Robinson syndrome
Snyder-Robinson X-linked mental retardation syndrome see Snyder-Robinson syndrome
SOD see Septo-optic dysplasia
sodium channel myotonia see Potassium-aggravated myotonia
Sohar-Crisponi syndrome see Cold-induced sweating syndrome
Somerville-Van der Aa syndrome see 7q11.23 duplication syndrome
SOST sclerosing bone dysplasia see SOST-related sclerosing bone dysplasia
SOST-related sclerosing bone dysplasia
Sotos sequence see Sotos syndrome
Sotos syndrome
Sotos' syndrome see Sotos syndrome
SOX2 anophthalmia syndrome
SOX2-related eye disorders see SOX2 anophthalmia syndrome
spasm of eyelids see Benign essential blepharospasm
spastic ataxia of Charlevoix-Saguenay see Autosomal recessive spastic ataxia of Charlevoix-Saguenay
spastic ataxia, Charlevoix-Saguenay type see Autosomal recessive spastic ataxia of Charlevoix-Saguenay
spastic paraparesis, childhood-onset, with distal muscle wasting see Troyer syndrome
spastic paraplegia 17 see Silver syndrome
spastic paraplegia 2 see Spastic paraplegia type 2
spastic paraplegia 20, autosomal recessive see Troyer syndrome
spastic paraplegia 3 see Spastic paraplegia type 3A
spastic paraplegia 31 see Spastic paraplegia type 31
spastic paraplegia 35 see Fatty acid hydroxylase-associated neurodegeneration
spastic paraplegia 3A see Spastic paraplegia type 3A
spastic paraplegia 4 see Spastic paraplegia type 4
spastic paraplegia 49, autosomal recessive see Spastic paraplegia type 49
spastic paraplegia 5A see Spastic paraplegia type 5A
spastic paraplegia 7 see Spastic paraplegia type 7
spastic paraplegia 8 see Spastic paraplegia type 8
spastic paraplegia and retinal degeneration see Spastic paraplegia type 15
Spastic paraplegia type 11
Spastic paraplegia type 15
Spastic paraplegia type 2
Spastic paraplegia type 31
Spastic paraplegia type 3A
Spastic paraplegia type 4
Spastic paraplegia type 49
Spastic paraplegia type 5A
Spastic paraplegia type 7
Spastic paraplegia type 8
spastic paraplegia with amyotrophy of hands and feet see Silver syndrome
spastic paraplegia, autosomal recessive, Troyer type see Troyer syndrome
SPD see Spondyloperipheral dysplasia
speech and language disorder with orofacial dyspraxia see FOXP2-related speech and language disorder
speech-language disorder 1 see FOXP2-related speech and language disorder
SPENCDI see Spondyloenchondrodysplasia with immune dysregulation
spenlic hypoplasia see Isolated congenital asplenia
spermatogenic failure 5 see Macrozoospermia
spermatogenic failure 9 see Globozoospermia
spermatogenic failure, Y-linked see Y chromosome infertility
spermine synthase deficiency see Snyder-Robinson syndrome
SPG 8 see Spastic paraplegia type 8
SPG11-related hereditary spastic paraplegia with thin corpus callosum see Spastic paraplegia type 11
SPG15 see Spastic paraplegia type 15
SPG17 see Silver syndrome
SPG20 see Troyer syndrome
SPG31 see Spastic paraplegia type 31
SPG3A see Spastic paraplegia type 3A
SPG4 see Spastic paraplegia type 4
SPG49 see Spastic paraplegia type 49
SPG5A see Spastic paraplegia type 5A
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 lipidosis see Niemann-Pick disease
sphingomyelin/cholesterol lipidosis see Niemann-Pick disease
sphingomyelinase deficiency see Niemann-Pick disease
Spiegler-Brooke syndrome see Brooke-Spiegler syndrome
Spielmeyer-Vogt disease see CLN3 disease
Spina bifida
spinal amyotrophies see Spinal muscular atrophy
spinal amyotrophy see Spinal muscular atrophy
Spinal and bulbar muscular atrophy
spinal dysraphism see Spina bifida
spinal muscle degeneration see Spinal muscular atrophy
spinal muscle wasting see Spinal muscular atrophy
Spinal muscular atrophy
Spinal muscular atrophy with lower extremity predominance
Spinal muscular atrophy with progressive myoclonic epilepsy
spinal muscular atrophy with respiratory distress see Spinal muscular atrophy with respiratory distress type 1
Spinal muscular atrophy with respiratory distress type 1
spinal muscular atrophy, childhood, proximal, autosomal dominant see Spinal muscular atrophy with lower extremity predominance
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, infantile X-linked see X-linked infantile spinal muscular atrophy
spinal muscular atrophy, juvenile, proximal, autosomal dominant see Spinal muscular atrophy with lower extremity predominance
spinal muscular atrophy, lower extremity, autosomal dominant see Spinal muscular atrophy with lower extremity predominance
spinal muscular atrophy, lower extremity, dominant see Spinal muscular atrophy with lower extremity predominance
spinal muscular atrophy, X-linked 2 see X-linked infantile spinal muscular atrophy
spinal muscular atrophy, X-linked lethal infantile see X-linked infantile spinal muscular atrophy
spinocerebellar ataxia 36 see Spinocerebellar ataxia type 36
Spinocerebellar ataxia type 1
Spinocerebellar ataxia type 2
Spinocerebellar ataxia type 3
Spinocerebellar ataxia type 36
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 ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy see Boucher-Neuhäuser syndrome
spinocerebellar ataxia, recessive, non-Friedreich type 1 see Ataxia with oculomotor apraxia
spinocerebellar atrophy I see Spinocerebellar ataxia type 1
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 syndrome see Spondylocarpotarsal synostosis syndrome
Spondylocarpotarsal synostosis syndrome
Spondylocostal dysostosis
Spondyloenchondrodysplasia with immune dysregulation
Spondyloepimetaphyseal dysplasia, Strudwick type
Spondyloepiphyseal dysplasia congenita
spondyloepiphyseal dysplasia tarda with progressive arthropathy see Progressive pseudorheumatoid dysplasia
spondyloepiphyseal dysplasia with congenital joint dislocations see CHST3-related skeletal dysplasia
spondyloepiphyseal dysplasia with metatarsal shortening see Czech dysplasia
Spondyloepiphyseal dysplasia, congenital type see Spondyloepiphyseal dysplasia congenita
spondyloepiphyseal dysplasia, Omani type see CHST3-related skeletal dysplasia
spondylohumerofemoral hypoplasia see Atelosteogenesis type 1
Spondylometaepiphyseal dysplasia congenita, Strudwick type see Spondyloepimetaphyseal dysplasia, Strudwick type
spondylometaepiphyseal dysplasia, anauxetic type see Anauxetic dysplasia
spondylometaepiphyseal dysplasia, Menger type see Anauxetic dysplasia
Spondylometaphyseal dysplasia (SMD) see Spondyloepimetaphyseal dysplasia, Strudwick type
Spondyloperipheral dysplasia
spondyloperipheral dysplasia with short ulna see Spondyloperipheral dysplasia
Spondylothoracic dysostosis
spongy myocardium see Left ventricular noncompaction
spontaneous occlusion of the Circle of Willis see Moyamoya disease
spontaneous pneumothorax see Primary spontaneous pneumothorax
Sporadic hemiplegic migraine
sporadic olivopontocerebellar atrophy see Multiple system atrophy
sporadic primary pulmonary hypertension see Pulmonary arterial hypertension
SPR deficiency see Sepiapterin reductase deficiency
sprue see Celiac disease
spun glass hair see Uncombable hair syndrome
SQTS see Short QT syndrome
squamous cell carcinoma of the head and neck see Head and neck squamous cell carcinoma
SRS see Snyder-Robinson syndrome
SRS see Russell-Silver syndrome
SRTD9 see Mainzer-Saldino syndrome
SSADH deficiency see Succinic semialdehyde dehydrogenase deficiency
SSB syndrome see SADDAN
SSS see Sick sinus syndrome
stale fish syndrome see Trimethylaminuria
Stargardt disease see Stargardt macular degeneration
Stargardt macular degeneration
startle syndrome see Hereditary hyperekplexia
STAT3 deficiency see Autosomal dominant hyper-IgE syndrome
STAT3-deficient hyper IgE syndrome see Autosomal dominant hyper-IgE syndrome
static encephalopathy of childhood with neurodegeneration in adulthood see Beta-propeller protein-associated neurodegeneration
STD see Spondylothoracic dysostosis
Steatocystoma multiplex
steatosis see Non-alcoholic fatty liver disease
Steele-Richardson-Olszewski syndrome see Progressive supranuclear palsy
Steely Hair Syndrome see Menkes syndrome
Stein-Leventhal syndrome see Polycystic ovary syndrome
stem cell leukemia/lymphoma see 8p11 myeloproliferative syndrome
stenosis, aortic supravalvular see Supravalvular aortic stenosis
stenosis, supravalvular aortic see Supravalvular aortic stenosis
steroid 11 beta hydroxylase deficiency see Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
steroid 18-hydroxylase deficiency see Corticosterone methyloxidase deficiency
steroid 18-oxidase deficiency see Corticosterone methyloxidase deficiency
steroid 5-alpha-reductase deficiency see 5-alpha reductase deficiency
Stevens-Johnson syndrome see Stevens-Johnson syndrome/toxic epidermal necrolysis
Stevens-Johnson syndrome toxic epidermal necrolysis spectrum see Stevens-Johnson syndrome/toxic epidermal necrolysis
Stevens-Johnson syndrome/toxic epidermal necrolysis
STGD see Stargardt macular degeneration
STHE see Hereditary hyperekplexia
Stickler dysplasia see Stickler syndrome
Stickler syndrome
stiff-baby syndrome see Hereditary hyperekplexia
Stilling-Turk-Duane syndrome see Isolated Duane retraction syndrome
STING-associated vasculopathy with onset in infancy
STING-associated vasculopathy, infantile onset see STING-associated vasculopathy with onset in infancy
Stormorken syndrome
Stormorken-Sjaastad-Langslet syndrome see Stormorken syndrome
straight-chain acyl-CoA oxidase deficiency see Peroxisomal acyl-CoA oxidase deficiency
striopallidodentate calcinosis see Primary familial brain calcification
Strudwick syndrome see Spondyloepimetaphyseal dysplasia, Strudwick type
Stuart-Prower factor deficiency see Factor X deficiency
Sturge-Weber syndrome
Sturge-Weber-Dimitri syndrome see Sturge-Weber syndrome
Sturge-Weber-Krabbe syndrome see Sturge-Weber syndrome
Stuve-Wiedemann dysplasia see Stüve-Wiedemann syndrome
Stuve-Wiedemann syndrome see Stüve-Wiedemann syndrome
Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome see Stüve-Wiedemann syndrome
STWS see Stüve-Wiedemann syndrome
STXBP1 encephalopathy with epilepsy
STXBP1 epileptic encephalopathy see STXBP1 encephalopathy with epilepsy
STXBP1-related early-onset encephalopathy see STXBP1 encephalopathy with epilepsy
STXBP1-related epileptic encephalopathy see STXBP1 encephalopathy with epilepsy
Stüve-Wiedemann syndrome
subacute necrotizing encephalomyelopathy see Leigh syndrome
Subcortical band heterotopia
subcortical laminar heterotopia see Subcortical band heterotopia
subluxation of lens see Isolated ectopia lentis
submandibular, ocular, and rectal pain with flushing see Paroxysmal extreme pain disorder
Succinate-CoA ligase deficiency
succinate-coenzyme A ligase deficiency see Succinate-CoA ligase deficiency
Succinic semialdehyde dehydrogenase deficiency
succinyl-CoA 3-oxoacid transferase deficiency see Succinyl-CoA:3-ketoacid CoA transferase 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:acetoacetate transferase deficiency see Succinyl-CoA:3-ketoacid CoA transferase deficiency
succinylcholine sensitivity see Pseudocholinesterase deficiency
succinylpurinemic autism see Adenylosuccinate lyase deficiency
sucrase-isomaltase deficiency see Congenital sucrase-isomaltase deficiency
Sudanophilic leukodystrophy see Pelizaeus-Merzbacher disease
Sudden infant death with dysgenesis of the testes syndrome
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
sulfocysteinuria see Isolated sulfite oxidase deficiency
SUNDS see Brugada syndrome
supernumerary der(22) syndrome see Emanuel syndrome
supernumerary der(22)t(11;22) syndrome see Emanuel syndrome
supernumerary 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
supravalvular stenosis, aortic see Supravalvular aortic stenosis
surdo-cardiac syndrome see Jervell and Lange-Nielsen syndrome
Surfactant dysfunction
surfactant metabolism deficiency see Surfactant dysfunction
susceptibility to acute necrotizing encephalopathy see Acute necrotizing encephalopathy type 1
susceptibility to infection-induced acute encephalopathy see Acute necrotizing encephalopathy type 1
susceptibility to infection-induced acute encephalopathy 3 see Acute necrotizing encephalopathy type 1
Sutherland-Haan syndrome see Renpenning syndrome
suxamethonium sensitivity see Pseudocholinesterase deficiency
SVAS see Supravalvular aortic stenosis
Swiss cheese cartilage dysplasia see Kniest dysplasia
Swiss type amyloid polyneuropathy see Transthyretin amyloidosis
SWS see Sturge-Weber syndrome
SWS see Stüve-Wiedemann syndrome
Swyer syndrome
symmetric parietal foramina see Enlarged parietal foramina
syndactyly-anophthalmos syndrome see Ophthalmo-acromelic syndrome
syndromic diarrhea see Trichohepatoenteric syndrome
syndromic microphthalmia 3 see SOX2 anophthalmia syndrome
syndromic microphthalmia-7 see Microphthalmia with linear skin defects syndrome
syndromic X-linked mental retardation, Siderius type see X-linked intellectual disability, Siderius type
SYNGAP1-related intellectual disability
systemic carnitine deficiency see Primary carnitine deficiency
systemic hemosiderosis due to aceruloplasminemia see Aceruloplasminemia
systemic juvenile rheumatoid arthritis see Juvenile idiopathic arthritis
Systemic lupus erythematosus
systemic mast cell disease see Systemic mastocytosis
systemic mast-cell disease see Systemic mastocytosis
systemic mastocytoses see Systemic mastocytosis
Systemic mastocytosis
Systemic scleroderma
systemic sclerosis see Systemic scleroderma
systemic tissue mast cell disease see Systemic mastocytosis