Genetic diseases-S
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- 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
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