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