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Rare conditions starting with S
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458 conditions starting with S
- Saccharopinuria
- Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
- Sacral hemangiomas multiple congenital abnormalities
- Sacral nerve plexus disorder
- Sacrococcygeal teratoma
- Saethre-Chotzen syndrome
- Salivary gland adenosquamous carcinoma
- Salivary gland small cell carcinoma
- Sandhoff disease
- Sandifer syndrome
- Sanfilippo syndrome
- Sanjad sakati syndrome
- SAPHO syndrome
- Sarcocystosis
- Sarcoidosis
- Sarcomatoid mesothelioma
- Sarcosine dehydrogenase deficiency
- Sarcotubular myopathy
- SATB2 associated disorder
- Satoyoshi syndrome
- Say-Barber-Miller syndrome
- Say-field-Coldwell syndrome
- Scalp defects-postaxial polydactyly syndrome
- Scalp-ear-nipple syndrome
- Scapuloperoneal spinal muscular atrophy
- SCARF syndrome
- Scedosporiosis
- Schaaf-Yang syndrome
- Schilbach-Rott syndrome
- Schimke immuno-osseous dysplasia
- Schinzel phocomelia syndrome
- Schinzel-Giedion syndrome
- Schisis association
- Schistosomiasis
- Schizencephaly
- Schneckenbecken dysplasia
- Schnitzler syndrome
- Schnyder crystalline corneal dystrophy
- Schöpf-Schulz-Passarge syndrome
- Schuurs-Hoeijmakers syndrome
- Schwannoma
- Schwannomatosis
- Schwartz-Jampel syndrome
- Scleredema
- Sclerocornea
- Scleroderma
- Scleromyxedema
- Sclerosing mesenteritis
- Sclerosteosis
- SCOTT SYNDROME
- Scrub typhus
- Sea-blue histiocyte syndrome
- Seborrhea-like dermatitis with psoriasiform elements
- Seckel syndrome
- Seckel syndrome 7
- Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
- Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
- Seizures-intellectual disability due to hydroxylysinuria syndrome
- Seizures-scoliosis-macrocephaly syndrome
- Seizures, benign familial neonatal, 1
- Seizures, benign familial neonatal, 2
- Selective IgM deficiency
- Self-healing collodion baby
- Self-limited childhood occipital epilepsy
- Self-limited epilepsy with centrotemporal spikes
- Semantic dementia
- Sengers syndrome
- Senior-Boichis syndrome
- Sennetsu fever
- Sensorineural hearing loss-early graying-essential tremor syndrome
- Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
- Septo-optic dysplasia sequence
- SERKAL syndrome
- Serpiginous choroiditis
- Sertoli-Leydig cell tumor
- Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
- Severe acute respiratory syndrome
- Severe combined immunodeficiency disease
- Severe combined immunodeficiency due to CARD11 deficiency
- Severe combined immunodeficiency due to CARMIL2 deficiency
- Severe combined immunodeficiency due to CD70 deficiency
- Severe combined immunodeficiency due to CORO1A deficiency
- Severe combined immunodeficiency due to DCLRE1C deficiency
- Severe combined immunodeficiency due to DNA-PKcs deficiency
- Severe combined immunodeficiency due to LAT deficiency
- Severe combined immunodeficiency due to LCK deficiency
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- Severe congenital hypochromic anemia with ringed sideroblasts
- Severe congenital nemaline myopathy
- Severe congenital neutropenia
- Severe dermatitis-multiple allergies-metabolic wasting syndrome
- Severe early-childhood-onset retinal dystrophy
- Severe early-onset axonal neuropathy due to MFN2 deficiency
- Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
- Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
- Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
- Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
- Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
- Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome
- Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- Severe intellectual disability-progressive spastic diplegia syndrome
- Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
- Severe lateral tibial bowing with short stature
- Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
- Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
- Severe myoclonic epilepsy in infancy
- Severe neonatal-onset encephalopathy with microcephaly
- Severe neurodegenerative syndrome with lipodystrophy
- Severe primary trimethylaminuria
- Severe X-linked intellectual disability, Gustavson type
- Severe X-linked mitochondrial encephalomyopathy
- Severe X-linked myotubular myopathy
- Sezary syndrome
- SFTPC-related interstitial lung disease
- Shashi-Pena syndrome
- Sheehan syndrome
- Sheldon-Hall syndrome
- Shigellosis
- Short bowel syndrome
- Short femur
- Short fifth metacarpals-insulin resistance syndrome
- Short QT syndrome
- Short rib-polydactyly syndrome, Majewski type
- Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
- Short stature due to growth hormone qualitative anomaly
- Short stature due to growth hormone secretagogue receptor deficiency
- Short stature due to partial GHR deficiency
- Short stature due to primary acid-labile subunit deficiency
- Short stature-advanced bone age-early-onset osteoarthritis syndrome
- Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
- Short stature-brachydactyly-obesity-global developmental delay syndrome
- Short stature-craniofacial anomalies-genital hypoplasia syndrome
- Short stature-heart defect-craniofacial anomalies syndrome
- Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
- Short stature-optic atrophy-Pelger-Huët anomaly syndrome
- Short stature-pituitary and cerebellar defects-small sella turcica syndrome
- Short stature-valvular heart disease-characteristic facies syndrome
- Short stature-webbed neck-heart disease syndrome
- Short stature-wormian bones-dextrocardia syndrome
- Short stature, Brussels type
- SHORT syndrome
- Short tarsus-absence of lower eyelashes syndrome
- Short ulna-dysmorphism-hypotonia-intellectual disability syndrome
- Short-limb skeletal dysplasia with severe combined immunodeficiency
- SHOX-related short stature
- Shprintzen-Goldberg syndrome
- Shwachman syndrome
- Shwartzman phenomenon
- Sialic acid storage disease, severe infantile type
- Sialidosis
- Sialidosis type 1
- Sialidosis type 2
- Sialuria
- Sickle cell-beta-thalassemia
- Sickle cell-hemoglobin C disease
- Sickle cell-hemoglobin D disease
- Sickle cell-hemoglobin E disease syndrome
- Sideroblastic anemia 3
- Siegler-Brewer-Carey syndrome
- Silicosiderosis
- Silicosis
- Sillence syndrome
- Simpson-Golabi-Behmel syndrome
- Simpson-Golabi-Behmel syndrome type 1
- SIN3A-related intellectual disability syndrome
- Singleton-Merten syndrome
- Sinoatrial node dysfunction and deafness
- Sinus histiocytosis with massive lymphadenopathy
- Sinus node disease and myopia
- Sinus venosus atrial septal defect
- Sirenomelia
- Sitosterolemia
- Situs inversus
- Situs inversus totalis with cystic dysplasia of kidneys and pancreas
- Situs inversus with levocardia
- Six2-related frontonasal dysplasia
- Sjögren-Larsson syndrome
- Skeletal dysplasia-epilepsy-short stature syndrome
- Skeletal dysplasia-intellectual disability syndrome
- Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
- Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
- Skin fragility-woolly hair-palmoplantar keratoderma syndrome
- Skraban-Deardorff syndrome
- SLC35A1-congenital disorder of glycosylation
- SLC35A2-congenital disorder of glycosylation
- SLC39A8-CDG
- SLC6A3-related dopamine transporter deficiency syndrome
- SMA
- Small cell lung carcinoma
- Small cell variant anaplastic large cell lymphoma
- Smith-Lemli-Opitz syndrome
- Smith-Magenis syndrome
- Smith-McCort dysplasia
- Sneddon syndrome
- Snijders Blok-Campeau syndrome
- Snowflake vitreoretinal degeneration
- Soft tissue sarcoma
- Solitary median maxillary central incisor syndrome
- Somatostatinoma
- Sorsby fundus dystrophy
- Sotos syndrome
- Southeast Asian ovalocytosis
- Spastic ataxia 1
- Spastic ataxia 2
- Spastic ataxia 3
- Spastic ataxia 4
- Spastic ataxia 5
- Spastic ataxia 7
- Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
- Spastic ataxia-corneal dystrophy syndrome
- Spastic ataxia-dysarthria due to glutaminase deficiency
- Spastic paraparesis-deafness syndrome
- Spastic paraplegia-epilepsy-intellectual disability syndrome
- Spastic paraplegia-facial-cutaneous lesions syndrome
- Spastic paraplegia-glaucoma-intellectual disability syndrome
- Spastic paraplegia-nephritis-deafness syndrome
- Spastic paraplegia-neuropathy-poikiloderma syndrome
- Spastic paraplegia-Paget disease of bone syndrome
- Spastic paraplegia-precocious puberty syndrome
- Spastic paraplegia-severe developmental delay-epilepsy syndrome
- Spastic paraplegia, intellectual disability, nystagmus, and obesity
- Spastic paraplegia, optic atropy, and neuropathy
- Spastic quadriplegic cerebral palsy
- Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
- Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
- Spasticity-ataxia-gait anomalies syndrome
- Specific granule deficiency
- Spermatogenic failure 9
- Sphingolipid activator protein 1 deficiency
- Sphingolipidosis
- Sphingomyelin/cholesterol lipidosis
- Sphingosine phosphate lyase insufficiency syndrome
- Spigelian hernia-cryptorchidism syndrome
- Spina bifida-hypospadias syndrome
- Spinal atrophy-ophthalmoplegia-pyramidal syndrome
- Spinal meningioma
- Spinal muscular atrophy type 0
- Spinal muscular atrophy with congenital bone fractures 1
- Spinal muscular atrophy with lower extremity predominance
- Spinal muscular atrophy with respiratory distress type 2
- Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
- Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- Spinal muscular atrophy, Ryukyuan type
- Spinal muscular atrophy, type II
- Spinocerebellar ataxia 27A
- Spinocerebellar ataxia 43
- Spinocerebellar ataxia 7
- Spinocerebellar ataxia 9
- Spinocerebellar ataxia type 1
- Spinocerebellar ataxia type 10
- Spinocerebellar ataxia type 11
- Spinocerebellar ataxia type 12
- Spinocerebellar ataxia type 13
- Spinocerebellar ataxia type 14
- Spinocerebellar ataxia type 15/16
- Spinocerebellar ataxia type 17
- Spinocerebellar ataxia type 18
- Spinocerebellar ataxia type 19/22
- Spinocerebellar ataxia type 2
- Spinocerebellar ataxia type 20
- Spinocerebellar ataxia type 21
- Spinocerebellar ataxia type 23
- Spinocerebellar ataxia type 25
- Spinocerebellar ataxia type 26
- Spinocerebellar ataxia type 27
- Spinocerebellar ataxia type 28
- Spinocerebellar ataxia type 29
- Spinocerebellar ataxia type 30
- Spinocerebellar ataxia type 31
- Spinocerebellar ataxia type 32
- Spinocerebellar ataxia type 34
- Spinocerebellar ataxia type 35
- Spinocerebellar ataxia type 36
- Spinocerebellar ataxia type 37
- Spinocerebellar ataxia type 38
- Spinocerebellar ataxia type 4
- Spinocerebellar ataxia type 40
- Spinocerebellar ataxia type 41
- Spinocerebellar ataxia type 42
- Spinocerebellar ataxia type 5
- Spinocerebellar ataxia type 6
- Spinocerebellar ataxia type 8
- Spinocerebellar ataxia with epilepsy
- Spinocerebellar ataxia-dysmorphism syndrome
- Spinocerebellar ataxia, autosomal recessive 23
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
- Spinocerebellar ataxia, X-linked 2
- Spleen neoplasm
- Splenic infarction
- Splenogonadal fusion-limb defects-micrognathia syndrome
- Split hand-foot malformation 1 with sensorineural hearing loss
- Split hand-foot malformation 3
- Split-foot malformation-mesoaxial polydactyly syndrome
- Sponastrime dysplasia
- Spondylo-megaepiphyseal-metaphyseal dysplasia
- Spondylo-ocular syndrome
- Spondylocamptodactyly syndrome
- Spondylocarpotarsal synostosis syndrome
- Spondylocostal dysostosis
- Spondylodysplastic Ehlers-Danlos syndrome
- Spondyloenchondrodysplasia with immune dysregulation
- Spondyloepimetaphyseal dysplasia with joint laxity
- Spondyloepimetaphyseal dysplasia with joint laxity, type 3
- Spondyloepimetaphyseal dysplasia with multiple dislocations
- Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome
- Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
- Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- Spondyloepimetaphyseal dysplasia, aggrecan type
- Spondyloepimetaphyseal dysplasia, Bieganski type
- Spondyloepimetaphyseal dysplasia, Genevieve type
- Spondyloepimetaphyseal dysplasia, Handigodu type
- Spondyloepimetaphyseal dysplasia, Isidor type
- Spondyloepimetaphyseal dysplasia, Maroteaux type
- Spondyloepimetaphyseal dysplasia, matrilin-3 type
- Spondyloepimetaphyseal dysplasia, Missouri type
- Spondyloepimetaphyseal dysplasia, PAPSS2 type
- Spondyloepimetaphyseal dysplasia, Shohat type
- Spondyloepimetaphyseal dysplasia, Strudwick type
- Spondyloepiphyseal dysplasia
- Spondyloepiphyseal dysplasia congenita
- Spondyloepiphyseal dysplasia tarda, autosomal dominant
- Spondyloepiphyseal dysplasia tarda, Kohn type
- Spondyloepiphyseal dysplasia tarda, X-linked
- Spondyloepiphyseal dysplasia with congenital joint dislocations
- Spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability
- Spondyloepiphyseal dysplasia with metatarsal shortening
- Spondyloepiphyseal dysplasia, Cantu type
- Spondyloepiphyseal dysplasia, Kimberley type
- Spondyloepiphyseal dysplasia, MacDermot type
- Spondyloepiphyseal dysplasia, Reardon type
- Spondyloepiphyseal dysplasia, Stanescu type
- Spondylometaphyseal dysplasia - Sutcliffe type
- Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
- Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
- Spondylometaphyseal dysplasia, A4 type
- Spondylometaphyseal dysplasia, Czarny-Ratajczak type
- Spondylometaphyseal dysplasia, East African type
- Spondylometaphyseal dysplasia, Golden type
- Spondylometaphyseal dysplasia, Kozlowski type
- Spondylometaphyseal dysplasia, Schmidt type
- Spondylometaphyseal dysplasia, Sedaghatian type
- Spondyloperipheral dysplasia
- Spongy degeneration of central nervous system
- Spontaneous periodic hypothermia
- Sporadic hemiplegic migraine
- Sporadic infantile bilateral striatal necrosis
- Sporotrichosis
- Squamous cell carcinoma of the head and neck
- SRD5A3-congenital disorder of glycosylation
- SSR4-congenital disorder of glycosylation
- St. Louis encephalitis
- Stapes ankylosis with broad thumbs and toes
- Staphylococcal necrotizing pneumonia
- Staphylococcal scalded skin syndrome
- Staphylococcal scarlet fever
- Stargardt disease
- STAT3-related early-onset multisystem autoimmune disease
- Steatocystoma multiplex
- Steatocystoma multiplex-natal teeth syndrome
- Steel syndrome
- Steinert myotonic dystrophy syndrome
- Sterile multifocal osteomyelitis with periostitis and pustulosis
- Stern-Lubinsky-Durrie syndrome
- Sternal cleft
- Steroid dehydrogenase deficiency-dental anomalies syndrome
- Steroid-responsive encephalopathy associated with autoimmune thyroiditis
- Sterol carrier protein 2 deficiency
- Stevens-Johnson syndrome
- Stickler syndrome
- Stiff skin syndrome
- Stiff-person syndrome
- Stimmler syndrome
- STING-associated vasculopathy with onset in infancy
- Storage pool disease of platelets
- Stormorken syndrome
- Striatal degeneration, autosomal dominant
- Striate palmoplantar keratoderma
- Striatonigral degeneration, childhood-onset
- Stromme syndrome
- STT3A-congenital disorder of glycosylation
- STT3B-congenital disorder of glycosylation
- Sturge-Weber syndrome
- Stüve-Wiedemann syndrome 1
- Subacute sclerosing panencephalitis
- Subaortic stenosis-short stature syndrome
- Subcorneal pustular dermatosis
- Subcortical band heterotopia
- Subcutaneous panniculitis-like T-cell lymphoma
- Subependymal giant-cell astrocytoma
- Subependymal glioma
- Subependymal nodular heterotopia
- Subepithelial mucinous corneal dystrophy
- Subpulmonary stenosis
- Subvalvular aortic stenosis
- Succinate-semialdehyde dehydrogenase deficiency
- Succinyl-CoA acetoacetate transferase deficiency
- Sucrase-isomaltase deficiency
- Sudden infant death-dysgenesis of the testes syndrome
- Sudden sensorineural hearing loss
- Sugarman brachydactyly
- Sulfite oxidase deficiency
- Summitt syndrome
- SUNCT syndrome
- Superficial siderosis
- Superior limbic keratoconjunctivitis
- Superior mesenteric artery syndrome
- Supravalvar aortic stenosis
- Supravalvular pulmonary stenosis
- Surfactant metabolism dysfunction, pulmonary, 1
- Susac syndrome
- Sydenham chorea
- Symbrachydactyly of hands and feet
- Symmetrical dyschromatosis of extremities
- Symmetrical thalamic calcifications
- Symphalangism with multiple anomalies of hands and feet
- Symptomatic form of Coffin-Lowry syndrome in female carriers
- Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
- Syndactyly type 1
- Syndactyly type 3
- Syndactyly type 4
- Syndactyly type 5
- Syndactyly type 6
- Syndactyly type 8
- Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome
- Syndactyly-polydactyly-ear lobe syndrome
- Syndactyly-telecanthus-anogenital and renal malformations syndrome
- Syndromic congenital sodium diarrhea
- Syndromic microphthalmia type 5
- Syndromic multisystem autoimmune disease due to ITCH deficiency
- Syndromic orbital border hypoplasia
- Syndromic recessive X-linked ichthyosis
- Syndromic X-linked intellectual disability 12
- Syndromic X-linked intellectual disability 17
- Syndromic X-linked intellectual disability 34
- Syndromic X-linked intellectual disability 7
- Syndromic X-linked intellectual disability Abidi type
- Syndromic X-linked intellectual disability Claes-Jensen type
- Syndromic X-linked intellectual disability Hedera type
- Syndromic X-linked intellectual disability Lubs type
- Syndromic X-linked intellectual disability Najm type
- Syndromic X-linked intellectual disability Nascimento type
- Syndromic X-linked intellectual disability Shashi type
- Syndromic X-linked intellectual disability Shrimpton type
- Syndromic X-linked intellectual disability Siderius type
- Syndromic X-linked intellectual disability Snyder type
- Syngnathia multiple anomalies
- Syngnathia-cleft palate syndrome
- Synovial sarcoma
- Synpolydactyly
- Syphilitic meningitis
- Syringocystadenoma papilliferum
- Syringomyelia
- Systemic mast cell disease
- Systemic sclerosis
- Systemic sclerosis sine scleroderma
- Systemic-onset juvenile idiopathic arthritis
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