Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions.
- 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
- Saul-Wilson 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 Shwachman-Diamond syndrome
- SDS, see Multiple system atrophy
- 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's disease, see Central core disease
- 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
- SNIBCPS, see Snijders Blok-Campeau syndrome
- Snijders Blok-Campeau syndrome
- 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
- 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
- STAC3 disorder
- 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
- STXBP1 encephalopathy with epilepsy, see STXBP1 encephalopathy
- STXBP1 epileptic encephalopathy, see STXBP1 encephalopathy
- STXBP1-related developmental and epileptic encephalopathy, see STXBP1 encephalopathy
- STXBP1-related early-onset encephalopathy, see STXBP1 encephalopathy
- STXBP1-related epileptic encephalopathy, see STXBP1 encephalopathy
- 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 Stüve-Wiedemann syndrome
- SWS, see Sturge-Weber 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
- Sézary syndrome

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