Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program [S]

Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

• Spinocerebellar ataxia
• Spinocerebellar ataxia 1
• Spinocerebellar ataxia 10
• Spinocerebellar ataxia 11
• Spinocerebellar ataxia 12
• Spinocerebellar ataxia 13
• Spinocerebellar ataxia 14
• Spinocerebellar ataxia 15
• Spinocerebellar ataxia 16 (formerly) - See Spinocerebellar ataxia 15
• Spinocerebellar ataxia 16q22-linked - See Spinocerebellar ataxia 31
• Spinocerebellar ataxia 17
• Spinocerebellar ataxia 18
• Spinocerebellar ataxia 19 and 22
• Spinocerebellar ataxia 2
• Spinocerebellar ataxia 20
• Spinocerebellar ataxia 21
• Spinocerebellar ataxia 23
• Spinocerebellar ataxia 24 (formerly) - See Spinocerebellar ataxia autosomal recessive 4
• Spinocerebellar ataxia 25
• Spinocerebellar ataxia 26
• Spinocerebellar ataxia 27
• Spinocerebellar ataxia 28
• Spinocerebellar ataxia 29
• Spinocerebellar ataxia 3
• Spinocerebellar ataxia 30
• Spinocerebellar ataxia 31
• Spinocerebellar ataxia 34
• Spinocerebellar ataxia 35 - See Hereditary ataxia
• Spinocerebellar ataxia 36 - See Hereditary ataxia
• Spinocerebellar ataxia 37
• Spinocerebellar ataxia 38 - See Hereditary ataxia
• Spinocerebellar ataxia 4
• Spinocerebellar ataxia 40
• Spinocerebellar ataxia 5
• Spinocerebellar ataxia 6 - See Spinocerebellar ataxia type 6
• Spinocerebellar ataxia 7
• Spinocerebellar ataxia 8
• Spinocerebellar ataxia 8 (formerly) - See Infantile onset spinocerebellar ataxia
• Spinocerebellar ataxia 9
• Spinocerebellar ataxia associated amyotrophy of the hands and sensorineural deafness - See Gemignani syndrome
• Spinocerebellar ataxia autosomal dominant with sensory axonal neuropathy - See Spinocerebellar ataxia 4
• Spinocerebellar ataxia autosomal recessive 3
• Spinocerebellar ataxia autosomal recessive 4
• Spinocerebellar ataxia autosomal recessive 5
• Spinocerebellar ataxia autosomal recessive 6
• Spinocerebellar ataxia autosomal recessive 7
• Spinocerebellar ataxia autosomal recessive 8
• Spinocerebellar ataxia autosomal recessive with axonal neuropathy
• Spinocerebellar ataxia Cuban type - See Spinocerebellar ataxia 2
• Spinocerebellar ataxia infantile with sensory neuropathy - See Infantile onset spinocerebellar ataxia
• Spinocerebellar ataxia type 1 - See Spinocerebellar ataxia 1
• Spinocerebellar ataxia type 10 - See Spinocerebellar ataxia 10
• Spinocerebellar ataxia type 11 - See Spinocerebellar ataxia 11
• Spinocerebellar ataxia type 12 - See Spinocerebellar ataxia 12
• Spinocerebellar ataxia type 13 - See Spinocerebellar ataxia 13
• Spinocerebellar ataxia type 14 - See Spinocerebellar ataxia 14
• Spinocerebellar ataxia type 15 - See Spinocerebellar ataxia 15
• Spinocerebellar ataxia type 17 - See Spinocerebellar ataxia 17
• Spinocerebellar ataxia type 18 - See Spinocerebellar ataxia 18
• Spinocerebellar ataxia type 2 - See Spinocerebellar ataxia 2
• Spinocerebellar ataxia type 20 - See Spinocerebellar ataxia 20
• Spinocerebellar ataxia type 21 - See Spinocerebellar ataxia 21
• Spinocerebellar ataxia type 23 - See Spinocerebellar ataxia 23
• Spinocerebellar ataxia type 25 - See Spinocerebellar ataxia 25
• Spinocerebellar ataxia type 26 - See Spinocerebellar ataxia 26
• Spinocerebellar ataxia type 27 - See Spinocerebellar ataxia 27
• Spinocerebellar ataxia type 28 - See Spinocerebellar ataxia 28
• Spinocerebellar ataxia type 29 - See Spinocerebellar ataxia 29
• Spinocerebellar ataxia type 30 - See Spinocerebellar ataxia 30
• Spinocerebellar ataxia type 31 - See Spinocerebellar ataxia 31
• Spinocerebellar ataxia type 4 - See Spinocerebellar ataxia 4
• Spinocerebellar ataxia type 40 - See Spinocerebellar ataxia 40
• Spinocerebellar ataxia type 5 - See Spinocerebellar ataxia 5
• Spinocerebellar ataxia type 6
• Spinocerebellar ataxia type 7 - See Spinocerebellar ataxia 7
• Spinocerebellar ataxia type 8 - See Spinocerebellar ataxia 8
• Spinocerebellar ataxia type 9 - See Spinocerebellar ataxia 9
• Spinocerebellar ataxia with axonal neuropathy - See Spinocerebellar ataxia autosomal recessive with axonal neuropathy
• Spinocerebellar ataxia with axonal neuropathy type 1 - See Spinocerebellar ataxia autosomal recessive with axonal neuropathy
• Spinocerebellar ataxia with axonal neuropathy type 2 - See Ataxia with Oculomotor Apraxia Type 2
• Spinocerebellar ataxia with blindness and deafness - See Spinocerebellar ataxia autosomal recessive 3
• Spinocerebellar ataxia with dysmorphism
• Spinocerebellar ataxia with saccadic intrusions - See Spinocerebellar ataxia autosomal recessive 4
• Spinocerebellar ataxia with slow eye movements - See Spinocerebellar ataxia 2
• Spinocerebellar ataxia X-linked type 2
• Spinocerebellar ataxia X-linked type 3
• Spinocerebellar ataxia X-linked type 4
• Spinocerebellar ataxia, autosomal recessive 2 - See Cerebelloparenchymal disorder 3
• Spinocerebellar ataxia, Friedreich - See Friedreich ataxia
• Spinocerebellar atrophy 1 - See Spinocerebellar ataxia 1
• Spinocerebellar atrophy 2 - See Spinocerebellar ataxia 2
• Spinocerebellar atrophy type 3 - See Spinocerebellar ataxia 3
• Spinocerebellar degeneration and corneal dystrophy
• Spinocerebellar degeneration corneal dystrophy - See Spinocerebellar degeneration and corneal dystrophy
• Spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia - See Mousa Al din Al Nassar syndrome
• Spinocerebellar degeneration with slow eye movements - See Spinocerebellar ataxia 2
• Spinopontine atrophy - See Spinocerebellar ataxia 3
• Spirochaetales Infections - See Spirochetes disease
• Spirochetes disease
• Spirurida Infections
• Spitz naevus - See Spitz nevus
• Spitz nevi - See Spitz nevus
• Spitz nevus
• Spleen cancer - See Splenic neoplasm
• Spleen neoplasm - See Splenic neoplasm
• Splenic agenesis syndrome - See Ivemark syndrome
• Splenic infarcts
• Splenic neoplasm
• Splenic ptosis - See Wandering spleen
• Splenogonadal fusion limb defects micrognatia
• Splenogonadal fusion limb defects syndrome - See Splenogonadal fusion limb defects micrognatia
• Splenomegaly
• Splenoptosis - See Wandering spleen
• Split cord malformation - See Split spinal cord malformation
• Split cord malformation type 1 - See Split spinal cord malformation
• Split hand deformity 1 - See Split hand foot malformation 1
• Split hand deformity-mandibulofacial dysostosis - See Nager acrofacial dysostosis
• Split hand foot anomaly - X-linked - See Split hand/foot malformation X-linked
• Split hand foot deformity 1 - See Split hand foot malformation 1
• Split hand foot deformity 2 - See Split hand/foot malformation X-linked
• Split hand foot malformation
• Split hand foot malformation 1
• Split hand malformation1 - See Split hand foot malformation 1
• Split hand nystagmus syndrome - See Split hand split foot nystagmus
• Split hand split foot malformation autosomal recessive
• Split hand split foot mandibular hypoplasia - See Acrorenal mandibular syndrome
• Split hand split foot nystagmus
• Split hand urinary anomalies spina bifida
• Split hand/foot malformation X-linked
• Split spinal cord malformation
• Split-foot deformity with ectrodactyly and mandibulofacial dysostosis - See Patterson-Stevenson-Fontaine syndrome
• Split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects - See Split hand urinary anomalies spina bifida
• Split-hand/foot malformation with long bone deficiency - See Cleft hand absent tibia
• SPM - See X-linked dominant scapuloperoneal myopathy
• SPMD - See MYH7-related scapuloperoneal myopathy
• SPMM - See MYH7-related scapuloperoneal myopathy
• Sponastrime dysplasia - See Spondyloepimetaphyseal dysplasia Sponastrime type
• Spondylar and nasal alterations with striated metaphyses - See Spondyloepimetaphyseal dysplasia Sponastrime type
• Spondylarthropathy
• Spondylo camptodactyly syndrome - See Spondylocamptodactyly
• Spondylocamptodactyly
• Spondylocarpotarsal syndrome - See Spondylocarpotarsal synostosis syndrome
• Spondylocarpotarsal synostosis syndrome
• Spondylocostal dysostosis
• Spondylocostal dysostosis 1 - See Spondylocostal dysostosis
• Spondylocostal dysostosis 1 autosomal recessive - See Spondylocostal dysostosis
• Spondylocostal dysostosis 2 - See Spondylocostal dysostosis
• Spondylocostal dysostosis 2, autosomal recessive - See Spondylocostal dysostosis
• Spondylocostal dysostosis 3 - See Spondylocostal dysostosis
• Spondylocostal dysostosis 3, autosomal recessive - See Spondylocostal dysostosis
• Spondylocostal dysostosis 4 - See Spondylocostal dysostosis
• Spondylocostal dysostosis 4, autosomal recessive - See Spondylocostal dysostosis
• Spondylocostal dysostosis 5 - See Spondylocostal dysostosis
• Spondylocostal dysostosis 6 - See Spondylocostal dysostosis
• Spondylocostal dysostosis 6, autosomal recessive - See Spondylocostal dysostosis
• Spondylocostal dysplasia - See Spondylocostal dysostosis
• Spondylodysplastic Ehlers-Danlos syndrome
• Spondyloenchondrodysplasia
• Spondyloenchondromatosis - See Spondyloenchondrodysplasia
• Spondylo-epimetaphyseal dysplasia - See Spondyloepimetaphyseal dysplasia X-linked
• Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification - See Spondylometaepiphyseal dysplasia short limb-hand type
• Spondyloepimetaphyseal dysplasia Genevieve type
• Spondyloepimetaphyseal dysplasia joint laxity
• Spondyloepimetaphyseal dysplasia Matrilin-3 related
• Spondyloepimetaphyseal dysplasia Matrilin-3 type - See Spondyloepimetaphyseal dysplasia Matrilin-3 related
• Spondyloepimetaphyseal dysplasia micromelic
• Spondyloepimetaphyseal dysplasia Missouri type
• Spondyloepimetaphyseal dysplasia Shohat type
• Spondyloepimetaphyseal dysplasia Sponastrime type
• Spondyloepimetaphyseal dysplasia Strudwick type
• Spondyloepimetaphyseal dysplasia type 2 - See Spondyloepimetaphyseal dysplasia Missouri type
• Spondyloepimetaphyseal dysplasia with hypotrichosis
• Spondyloepimetaphyseal dysplasia with joint laxity - See Spondyloepimetaphyseal dysplasia joint laxity
• Spondyloepimetaphyseal dysplasia with multiple dislocations
• Spondyloepimetaphyseal dysplasia with multiple dislocations Hall type - See Spondyloepimetaphyseal dysplasia with multiple dislocations
• Spondyloepimetaphyseal dysplasia with multiple dislocations leptodactylic type - See Spondyloepimetaphyseal dysplasia with multiple dislocations
• Spondyloepimetaphyseal dysplasia X-linked
• Spondyloepimetaphyseal dysplasia x-linked with mental deterioration
• Spondyloepimetaphyseal dysplasia, Aggrecan type
• Spondyloepimetaphyseal dysplasia, Handigodu type - not a rare disease
• Spondyloepimetaphyseal dysplasia, Missouri type - See Spondyloepimetaphyseal dysplasia Missouri type
• Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome - See Spondylometaepiphyseal dysplasia short limb-hand type
• Spondyloepiphseal dysplasia, retinal dystrophy and antibody deficiency - See Roifman syndrome
• Spondyloepiphyseal dysplasia
• Spondyloepiphyseal dysplasia congenita
• Spondyloepiphyseal dysplasia Maroteaux type
• Spondyloepiphyseal dysplasia nephrotic syndrome - See Schimke immunoosseous dysplasia
• Spondyloepiphyseal dysplasia pseudoachondroplastic 2 - See Pseudoachondroplastic dysplasia 2
• Spondyloepiphyseal dysplasia tarda - progressive arthropathy - See Progressive pseudorheumatoid dysplasia
• Spondyloepiphyseal dysplasia tarda with progressive arthropathy - See Progressive pseudorheumatoid dysplasia
• Spondyloepiphyseal dysplasia tarda X-linked
• Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome - See Progressive pseudorheumatoid dysplasia
• Spondyloepiphyseal dysplasia, congenital type - See Spondyloepiphyseal dysplasia congenita
• Spondyloepiphyseal dysplasia, Maroteaux type - See Spondyloepiphyseal dysplasia Maroteaux type
• Spondyloepiphyseal dysplasia, pseudoachondroplastic - See Pseudoachondroplasia
• Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
• Spondylohumerofemoral hypoplasia - See Atelosteogenesis type 1
• Spondylohypoplasia, arthrogryposis and popliteal pterygium
• Spondylometaepiphyseal dysplasia Anauxetic type - See Anauxetic dysplasia
• Spondylometaepiphyseal dysplasia Menger type - See Anauxetic dysplasia
• Spondylometaepiphyseal dysplasia short limb-abnormal calcification type - See Spondylometaepiphyseal dysplasia short limb-hand type
• Spondylometaepiphyseal dysplasia short limb-hand type
• Spondylometaphyseal dysplasia A4 type - See Spondylometaphyseal dysplasia type A4
• Spondylometaphyseal dysplasia Algerian type
• Spondylometaphyseal dysplasia axial type - See Axial spondylometaphyseal dysplasia
• Spondylometaphyseal dysplasia corner fracture type
• Spondylometaphyseal dysplasia East-African type
• Spondylometaphyseal dysplasia Richmond type - See Spondylometaphyseal dysplasia X-linked
• Spondylometaphyseal dysplasia Schmidt type - See Spondylometaphyseal dysplasia Algerian type
• Spondylometaphyseal dysplasia Sedaghatian type
• Spondylometaphyseal dysplasia Sutcliffe type - See Spondylometaphyseal dysplasia corner fracture type
• Spondylometaphyseal dysplasia type A4
• Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism
• Spondylometaphyseal dysplasia with cone-rod dystrophy
• Spondylometaphyseal dysplasia with dentinogenesis imperfecta
• Spondylometaphyseal dysplasia with enchondromatous changes - See Spondyloenchondrodysplasia
• Spondylometaphyseal dysplasia with severe genu valgum - See Spondylometaphyseal dysplasia Algerian type
• Spondylometaphyseal dysplasia X-linked
• Spondylometaphyseal dysplasia, Kozlowski type
• Spondyloperipheral dysplasia
• Spondyloperipheral dysplasia with short ulna - See Spondyloperipheral dysplasia
• Spondylospinal thoracic dysostosis
• Spondylothoracic dysostosis - See Spondylocostal dysostosis
• Spondylothoracic dysostosis
• Spondylothoracic dysplasia - See Spondylothoracic dysostosis
• Sponge kidney - See Medullary sponge kidney
• Spongy degeneration of the central nervous system - See Canavan disease
• Spongy myocardium - See Left ventricular noncompaction
• Spontaneous coronary artery dissection
• Spontaneous dactylolysis - See Ainhum
• Spontaneous occlusion of the circle of Willis - See Moyamoya disease
• Spontaneous perforation of the esophagus - See Boerhaave syndrome
• Spontaneous periodic hypothermia - See Shapiro syndrome
• Spontaneous periodic hypothermia syndrome - See Shapiro syndrome
• Spontaneous pneumothorax - See Primary spontaneous pneumothorax
• Spontaneous recurrent hypothermia syndrome - See Shapiro syndrome
• Spontaneous rupture of the esophagus - See Boerhaave syndrome
• Sporadic inclusion body myositis - See Inclusion body myositis
• Sporotrichosis
• Spotted bones - See Osteopoikilosis
• Spotted fever
• SPPK1 - See Keratosis palmoplantaris striata 1
• SPPX2 - See Spastic paraplegia 2
• SPR deficiency - See Sepiapterin reductase deficiency
• Sprengel deformity
• Sprengel's deformity - See Sprengel deformity
• Sprengel's shoulder - See Sprengel deformity
• SPS - See Stiff person syndrome
• SPSMA - See Amyotrophy, neurogenic scapuloperoneal, New England type
• SPTCL - See Subcutaneous panniculitis-like T-cell lymphoma
• Spun glass hair - See Uncombable hair syndrome
• Squamous cell carcinoma - not a rare disease
• Squamous cell carcinoma of the head and neck - not a rare disease
• Squamous cell skin cancer - See Squamous cell carcinoma - not a rare disease
• SRD5A3-CDG - See SRD5A3-CDG (CDG-Iq)
• SRD5A3-CDG (CDG-Iq)
• SRN1 - See Nephrotic syndrome, idiopathic, steroid-resistant
• SRPS type 1 - See Short rib-polydactyly syndrome type 1
• SRPS type 2 - See Short rib-polydactyly syndrome, Majewski type
• SRPS type 3 - See Short rib-polydactyly syndrome type 3
• SRPS type 4 - See Short rib-polydactyly syndrome type 4
• SRS - See Snyder-Robinson syndrome
• SS - See Acute febrile neutrophilic dermatosis
• SSADH deficiency - See Succinic semialdehyde dehydrogenase deficiency
• SSB syndrome - See Severe achondroplasia with developmental delay and acanthosis nigricans
• SSCM - See Split spinal cord malformation
• SSD - See X-linked ichthyosis
• SSDD - See X-linked ichthyosis
• SSPE - See Subacute sclerosing panencephalitis
• SSR4-CDG
• SSS - See Hypoparathyroidism-intellectual disability-dysmorphism syndrome
• St Anthony's fire
• St. Helena familial genu valgum - See Genu valgum, st Helena familial
• St. Vitus dance - See Sydenham's chorea
• ST3GAL5-CDG - See GM3 synthase deficiency
• Stachybotrys atra - See Stachybotrys chartarum
• Stachybotrys chartarum
• Stale fish syndrome - See Trimethylaminuria
• Stalker Chitayat syndrome
• Stanescu osteosclerosis - See Craniofacial dysostosis with diaphyseal hyperplasia
• Stankiewicz-Isidor syndrome
• Stapedo-vestibular ankylosis - See Progressive deafness with stapes fixation
• Staphylococcal food poisoning
• Staphylococcal toxic shock syndrome
• STAR syndrome
• Stargardt disease
• Stargardt macular dystrophy - See Stargardt disease
• Stark-Kaeser syndrome - See Scapuloperoneal syndrome, neurogenic, Kaeser type
• Startle disease - See Jumping Frenchmen of Maine
• Startle disease, familial - See Hereditary hyperekplexia
• Startle reaction, exaggerated - See Hereditary hyperekplexia
• Static encephalopathy of childhood with neurdegeneration in adulthood - See Beta-Propeller Protein-Associated Neurodegeneration
• STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD - See Beta-Propeller Protein-Associated Neurodegeneration
• Stationary night blindness, Oguchi type - See Oguchi disease
• Status epilepticus
• Status epilepticus owing to presumed encephalitis - See Febrile infection-related epilepsy syndrome
• Steatocystoma multiplex
• Steatocystoma multiplex with natal teeth
• Steatosis of liver - See Visceral steatosis
• Steele-Richardson-Olszewski Syndrome - See Progressive supranuclear palsy
• Steely hair disease - See Menkes disease
• Steinert disease - See Myotonic dystrophy type 1
• Steinert myotonic dystrophy - See Myotonic dystrophy type 1
• Steinert's disease - See Myotonic dystrophy type 1
• Steinfeld syndrome
• Stenotrophomonas maltophilia - See Stenotrophomonas maltophilia infection
• Stenotrophomonas maltophilia infection
• Stern Lubinsky Durrie syndrome - See Corneodermatoosseous syndrome
• Sternal cleft
• Sternal nonunion with supraumbilical raphe - See Supraumbilical midabdominal raphe and facial cavernous hemangiomas
• Steroid 11-beta-hydroxylase deficiency - See 11-beta-hydroxylase deficiency
• Steroid dehydrogenase deficiency dental anomalies
• Steroid sulfatase deficiency - See X-linked ichthyosis
• Steroid sulfatase deficiency disease - See X-linked ichthyosis
• Steroid-responsive encephalopathy associated with autoimmune thyroiditis - See Hashimoto encephalopathy
• Sterol 27-hydroxylase deficiency - See Cerebrotendinous xanthomatosis
• Sterol c5-desaturase deficiency - See Lathosterolosis
• STEROL CARRIER PROTEIN 2 DEFICIENCY - See Leukoencephalopathy - dystonia - motor neuropathy
• 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
• Stewart Treves syndrome
• STHE - See Hereditary hyperekplexia
• Stickler syndrome
• Stickler syndrome nonocular type - See Stickler syndrome, type 3
• Stickler syndrome type 1
• Stickler syndrome, beaded vitreous type - See Stickler syndrome, type 2
• Stickler syndrome, membranous vitreous type - See Stickler syndrome type 1
• Stickler syndrome, type 2
• Stickler syndrome, type 3
• Stickler syndrome, vitreous type 1 - See Stickler syndrome type 1
• Stickler syndrome, vitreous type 2 - See Stickler syndrome, type 2
• Sticky platelet syndrome - not a rare disease
• Stiff lung - See Acute respiratory distress syndrome
• Stiff man syndrome - See Stiff person syndrome
• Stiff person syndrome
• Stiff person syndrome and related disorders - See Stiff person syndrome
• Stiff skin syndrome
• Stiff-baby syndrome - See Hereditary hyperekplexia
• Stiff-man syndrome, congenital - See Hereditary hyperekplexia
• Stiff-person syndrome, congenital - See Hereditary hyperekplexia
• Still disease - See Systemic onset juvenile idiopathic arthritis
• Stilling-Turk-Duane syndrome - See Duane syndrome
• Still's disease (formerly) - See Systemic onset juvenile idiopathic arthritis
• Still's disease adult onset - See Adult-onset Still's disease
• Stimmler syndrome - See Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus
• STING-associated vasculopathy with onset in infancy
• STL 2 - See Stickler syndrome, type 2
• STL1 - See Stickler syndrome type 1
• STL3 - See Stickler syndrome, type 3
• Stocco dos Santos syndrome
• Stoelinga de Koomen Davis syndrome
• Stoll Alembik Finck syndrome
• Stoll-Alembik-Finck syndrome - See Stoll Alembik Finck syndrome
• Stoll-Géraudel-Chauvin syndrome - See Intellectual deficit - short stature - hypertelorism
• Stoll-Kieny-Dott syndrome - See Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence
• Stoll-Levy-Francfort syndrome - See Phocomelia ectrodactyly deafness sinus arrhythmia
• Stoll-Lévy-Francfort syndrome - See Phocomelia ectrodactyly deafness sinus arrhythmia
• Stomach cancer
• Stomach carcinoma - See Stomach cancer
• Stomach Lymphoma, Non-Hodgkins type - See Gastric Non-Hodgkin Lymphoma
• Stomatocytosis I - See Overhydrated hereditary stomatocytosis
• Stomatocytosis, cold-sensitive - See Pseudohyperkalemia Cardiff
• Stomatodynia - See Burning mouth syndrome - not a rare disease
• Storage pool platelet disease - See Platelet storage pool deficiency
• Storm syndrome
• Stormorken syndrome - See Thrombocytopathy asplenia miosis
• Stormorken-Sjaastad-Langslet syndrome - See Thrombocytopathy asplenia miosis
• Strabismus from superior oblique palsy - See Familial congenital palsy of trochlear nerve
• Straight-chain Acyl-CoA oxidase deficiency - See Pseudoneonatal adrenoleukodystrophy
• Strasburger-Hawkins-Eldridge syndrome - See Proximal symphalangism
• Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome - See Proximal symphalangism
• Stratton Parker syndrome - See Short stature wormian bones dextrocardia
• Stratton-Garcia-Young syndrome - See Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
• Streeter anomaly - See Amniotic band syndrome
• Streptococcal Group A invasive disease
• Streptococcal Group B invasive disease
• Stress cardiomyopathy - See Broken heart syndrome
• Stress polycythemia - See Pseudopolycythaemia
• Stress-induced cardiomyopathy - See Broken heart syndrome
• Stress-induced polymorphic ventricular tachycardia - See Catecholaminergic polymorphic ventricular tachycardia
• Striatal degeneration familial - See Striatonigral degeneration infantile
• Striate palmoplantar keratoderma 1 - See Keratosis palmoplantaris striata 1
• Striate palmoplantar keratoderma 3 - See Keratosis palmoplantaris striata 3
• Striatonigral degeneration infantile
• Striopallidodentate calcinosis autosomal dominant adult-onset - See Primary Familial Brain Calcification
• Strongyloidiasis
• Strudwick syndrome - See Spondyloepimetaphyseal dysplasia Strudwick type
• Strumpell disease - See Spastic paraplegia 3
• Strümpell-Lorrain disease - See Hereditary spastic paraplegia
• STT3A-CDG and STT3B-CDG
• Stuart factor deficiency, congenital - See Factor X deficiency
• Stuart-Prower factor deficiency - See Factor X deficiency
• Sturge Weber syndrome - See Sturge-Weber syndrome
• Sturge-Weber syndrome
• Stuttgart disease - See Leptospirosis
• Stuve-Wiedemann syndrome
• Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome - See Stuve-Wiedemann syndrome
• STWS - See Stuve-Wiedemann syndrome
• STXBP1 disorders - See Early infantile epileptic encephalopathy 4
• STXBP1-related early-onset encephalopathy - See Early infantile epileptic encephalopathy 4
• Styloid-stylohyoid syndrome - See Eagle syndrome
• Subacute Berylliosis - See Beryllium disease
• Subacute cerebellar degeneration
• Subacute cutaneous lupus - See Lupus - not a rare disease
• Subacute necrotizing encephalomyelopathy maternally inherited - See Mitochondrial DNA-associated Leigh syndrome
• Subacute necrotizing encephalopathy - See Leigh syndrome
• Subacute sclerosing panencephalitis
• Subacute spongiform encephalopathy, Gerstmann-Straussler type - See Gerstmann-Straussler-Scheinker disease
• Subaortic stenosis - See Subvalvular aortic stenosis
• Subaortic stenosis short stature syndrome
• Subcorneal pustular dermatitis - See Subcorneal pustular dermatosis
• Subcorneal pustular dermatosis
• Subcortical band heterotopia
• Subcortical vascular encephalopathy, progressive - See Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
• Subcutaneous panniculitis-like T-cell lymphoma
• Subependymal astrocytoma (formerly) - See Subependymoma
• Subependymal giant cell astrocytoma
• Subependymal nodular heterotopia
• Subependymoma
• Subglottic bar, congenital heart disease and low stature - See Gay Feinmesser Cohen syndrome
• Submacular cysticercosis - See Cysticercosis
• Submandibular, ocular, and rectal pain with flushing - See Paroxysmal extreme pain disorder
• Subpulmonary stenosis
• Subungual exostoses - See Dupuytren subungual exostosis
• Subungual melanoma - See Acral lentiginous melanoma
• Subvalvular aortic stenosis
• Succinate CoQ reductase deficiency - See Mitochondrial complex II deficiency
• Succinic semialdehyde dehydrogenase deficiency
• Succinylcholine Sensitivity - See Pseudocholinesterase deficiency
• Succinyl-CoA acetoacetate transferase deficiency - See SCOT deficiency
• Succinyl-CoA:3-oxoacid CoA transferase deficiency - See SCOT deficiency
• Sucrase-isomaltase deficiency, congenital - See Congenital sucrase-isomaltase deficiency
• Sucrose intolerance congenital - See Congenital sucrase-isomaltase deficiency
• Sucrose isomaltose enzyme deficiency - See Congenital sucrose isomaltose malabsorption
• Sucrose-isomaltase malabsorption, congenital - See Congenital sucrase-isomaltase deficiency
• Sudden Arrhythmia Death Syndrome
• Sudden arrhythmic death syndrome - See Sudden Arrhythmia Death Syndrome
• Sudden deafness - See Sudden sensorineural hearing loss
• Sudden infant death - dysgenesis of the testes - See Sudden infant death with dysgenesis of the testes syndrome
• Sudden infant death syndrome
• Sudden infant death with dysgenesis of the testes syndrome
• Sudden infant death-dysgenesis of the testes syndrome - See Sudden infant death with dysgenesis of the testes syndrome
• Sudden onset of unilateral flushing and sweating - See Harlequin syndrome
• Sudden sensorineural hearing loss
• Sudden unexpected nocturnal death syndrome - See Brugada syndrome
• SUFE - See Slipped capital femoral epiphysis - not a rare disease
• Sugarman brachydactyly
• Sugarman syndrome - See Orofaciodigital syndrome 3
• Sugio-Kajii Syndrome - See Trichorhinophalangeal syndrome type 3
• Sulfatide lipidosis - See Metachromatic leukodystrophy
• Sulfatidosis juvenile, Austin type - See Multiple sulfatase deficiency
• Sulfite oxidase deficiency
• Sulfocysteinuria - See Sulfite oxidase deficiency
• Summerskill syndrome - See Benign recurrent intrahepatic cholestasis 1
• Summerskill-Walshe-Tygstrup syndrome - See Benign recurrent intrahepatic cholestasis
• Summertime actinic lichenoid eruption - See Actinic lichen planus
• SUNA - See Short-lasting unilateral neuralgiform headache attacks with cranial autonomic symptoms
• SUNA headache - See Short-lasting unilateral neuralgiform headache attacks with cranial autonomic symptoms
• SUNCT headache
• SUNCT syndrome - See SUNCT headache
• Suo yang - See Koro
• Superficial annular corneal dystrophy, ichthyosis nigrans, microcephaly and mild mental subnormality - See Sammartino Decreccio syndrome
• Superficial lymphangioma - See Microcystic lymphatic malformation
• Superficial lymphatic malformation - See Microcystic lymphatic malformation
• Superficial siderosis of the central nervous system
• Superficial spreading melanoma
• Superior canal dehiscence syndrome - See Superior semicircular canal dehiscence syndrome
• Superior limbic keratoconjunctivitis
• Superior mesenteric artery syndrome
• Superior oblique oculomotor palsy, familial congenital - See Familial congenital palsy of trochlear nerve
• Superior Oblique Tendon Sheath syndrome - See Brown syndrome
• Superior semicircular canal dehiscence syndrome
• Supernumerary der(22) syndrome - See Emanuel syndrome
• Supernumerary der(22),t(11;22) syndrome - See Emanuel syndrome
• Supernumerary digits - See Polydactyly
• Supernumerary nipple - not a rare disease
• Suprabulbar paresis congenital - See Worster Drought syndrome
• Supraglottic laryngeal cancer
• Supraglottic laryngeal carcinoma - See Supraglottic laryngeal cancer
• Supranuclear ocular palsy
• Supranuclear palsy, progressive - See Progressive supranuclear palsy
• Supratentorial Embryonal Tumor, NOS - See Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified
• Supratentorial Embryonal Tumor, Not Otherwise Specified - See Supratentorial primitive neuroectodermal tumor
• Supratentorial primitive neuroectodermal tumor
• Supratentorial primitive neuroectodermal tumors, childhood - See Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified
• Supraumbilical midabdominal raphe and facial cavernous hemangiomas
• Supravalvar aortic stenosis, Eisenberg type - See Supravalvular aortic stenosis
• Supravalvular aortic stenosis
• Surdo-cardiac syndrome - See Jervell Lange-Nielsen syndrome
• Susac syndrome
• Susceptibility to acute infection-induced encephalopathy-3 - See Infection-induced acute encephalopathy 3
• Susceptibility to acute necrotizing encephalopathy - See Infection-induced acute encephalopathy 3
• Susceptibility to Autism, 14B - See 16p11.2 duplication
• Susceptibility to autism, X-linked - See X-linked susceptibility to autism-4
• Susceptibility to Infection-Induced Acute Encephalopathy 3 - See Infection-induced acute encephalopathy 3
• Susceptibility to severe cutaneous adverse reaction ITY TO - See Stevens-Johnson syndrome/toxic epidermal necrolysis
• Susceptibility to Tinea imbricata - See Kerion celsi
• Susceptibility to valproate embryopathy - See Fetal valproate syndrome
• Sutcliffe SMD - See Spondylometaphyseal dysplasia corner fracture type
• Sutcliffe type of spondylometaphyseal dysplasia - See Spondylometaphyseal dysplasia corner fracture type
• Sutherland-Haan syndrome - See Renpenning syndrome 1
• Sutherland-Haan X-linked mental retardation syndrome - See Renpenning syndrome 1
• Sutton disease 2
• Suxamethonium Sensitivity - See Pseudocholinesterase deficiency
• SVA - See Aneurysm of sinus of Valsalva
• SVAS - See Supravalvular aortic stenosis
• SVD - See Snowflake vitreoretinal degeneration
• Swamp fever - See Leptospirosis
• Sweet syndrome - See Acute febrile neutrophilic dermatosis
• Swimmer's itch - See Cercarial Dermatitis
• Swineherd's disease - See Leptospirosis
• SWS - See Sturge-Weber syndrome
• SWS type I - Facial and leptomeningeal angiomas - See Sturge-Weber syndrome
• SWS type II - Facial angioma alone, no CNS involvement - See Sturge-Weber syndrome
• SWS type III - Isolated leptomeningeal angiomas - See Sturge-Weber syndrome
• Swyer syndrome
• Swyer-James syndrome
• Swyer-James-MacLeod syndrome - See Swyer-James syndrome
• Sydenham chorea - See Sydenham's chorea
• Sydenham's chorea
• Symbrachydactyly of the hand and foot - See Frints De Smet Fabry Fryns syndrome
• Symmastia
• Symmetric dyschromatosis of the extremities - See Dyschromatosis symmetrica hereditaria 1
• Symmetric infantile thalamic degeneration - See Thalamic degeneration, symmetric infantile
• Symmetrical infantile thalamic degeneration - See Thalamic degeneration symmetrical infantile
• Symmetrical thalamic calcifications
• Symmetrical thalamic degeneration in infants - See Thalamic degeneration, symmetric infantile
• Symphalangism brachydactyly syndrome - See Multiple synostoses syndrome 1
• Symphalangism distal
• Symphalangism with multiple anomalies of hands and feet
• Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch
• Symphalangism, proximal, 1A (subtype) - See Proximal symphalangism
• Symphalangism, proximal, 1B (subtype) - See Proximal symphalangism
• Symphalangism, short stature, skeletal anomalies, and accessory testis - See Theodor Hertz Goodman syndrome
• Syncopal paroxysmal tachycardia - See Catecholaminergic polymorphic ventricular tachycardia
• Syncope familial neurocardiogenic - See Familial neurocardiogenic syncope
• Syndactylic oxycephaly - See Apert syndrome
• Syndactyly - not a rare disease
• Syndactyly Cenani Lenz type
• Syndactyly ectodermal dysplasia cleft lip palate hand foot
• Syndactyly Malik-Percin type - See Syndactyly type 9
• Syndactyly mesoaxial synostotic with phalangeal reduction - See Syndactyly type 9
• Syndactyly of fingers four and five - See Syndactyly type 3
• Syndactyly of the ring and little finger - See Syndactyly type 3
• Syndactyly type 1
• Syndactyly type 2
• Syndactyly type 3
• Syndactyly type 4
• Syndactyly type 5
• Syndactyly type 7 - See Syndactyly Cenani Lenz type
• Syndactyly type 9
• Syndactyly type I with microcephaly and mental retardation - See Filippi syndrome
• Syndactyly with associated metacarpal and metatarsal fusion - See Syndactyly type 5
• Syndactyly, preaxial polydactyly and sternal deformity - See Acropectoral syndrome
• Syndactyly, telecanthus, anogenital and renal malformations - See STAR syndrome
• Syndactyly-ectodermal dysplasia-cleft/lip palate - See Zlotogora syndrome
• Syndactyly-polydactyly-earlobe syndrome
• Syndermotic cataract and congenital ichthyosis - See Cataract and congenital ichthyosis
• Syndromatic diarrhea - See Trichohepatoenteric syndrome
• Syndrome of coronal craniosynostosis - See Muenke Syndrome
• Syndrome of dwarfism, mental retardation, lens opacities, nystagmus, strabismus, cryptorchidism and absent patellae - See Singh Chhaparwal Dhanda syndrome
• Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria - See Ethylmalonic encephalopathy
• Syndrome of inappropriate antidiuretic hormone - not a rare disease
• Syndrome of inappropriate antidiuretic hormone secretion - See Syndrome of inappropriate antidiuretic hormone - not a rare disease
• Syndrome of microcephaly, deafness/malformed ears, mental retardation and peculiar facies - See Microcephaly deafness syndrome
• Syndrome of microtia and aortic arch anomalies - See Isotretinoin embryopathy like syndrome
• Syndrome of polyneuropathy, skin hyperpigmentation, oedema and hepatosplenomegaly - See Tang Hsi Ryu syndrome
• Syndrome of pseudomyxoma peritonei - See Pseudomyxoma peritonei
• Syndrome of tetraamelia with pulmonary hypoplasia - See Tetraamelia with pulmonary hypoplasia
• Syndrome of transient headache and neurological deficits with cerebrospinal fluid lymphocytosis: HaNDL - See HaNDL syndrome
• Syndrome of unilobed or absent thymus, renal and ureter agenesis/dysgenesis, and intrauterine growth retardation (IUGR) - See Thymic-Renal-Anal-Lung dysplasia
• Syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition - See Singleton-Merten syndrome
• Syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart - See Eosinophilia-myalgia syndrome
• Syndrome with triphalangia of thumbs, thrombasthenia Glanzmann and deafness of internal ear - See Schlegelberger Grote syndrome
• Syndromic diarrhea - See Trichohepatoenteric syndrome
• Syndromic diarrhea/Tricho-hepato-enteric syndrome - See Trichohepatoenteric syndrome
• Syndromic microphthalmia type 1 - See Lenz microphthalmia syndrome
• Syndromic microphthalmia type 2 - See Oculofaciocardiodental syndrome
• Syndromic microphthalmia type 4 - See Microphthalmia syndromic 4
• Syndromic microphthalmia type 5 - See Microphthalmia syndromic 5
• Syndromic microphthalmia type 6 - See Microphthalmia syndromic 6
• Syndromic microphthalmia type 7 - See Microphthalmia with linear skin defects syndrome
• Syndromic microphthalmia type 8 - See Microphthalmia syndromic 8
• Syndromic microphthalmia, type 3
• Syndromic microphthalmia-12
• Syndromic multisystem autoimmune disease - See ITCH E3 ubiquitin ligase deficiency
• SYNE1-related autosomal recessive cerebellar ataxia - See Spinocerebellar ataxia autosomal recessive 8
• Syngap1 Gene Mutation Linked To Intellectual Disability, Schizophrenia and Autism - See SYNGAP1-related non-syndromic intellectual disability
• SYNGAP1 syndrome - See SYNGAP1-related non-syndromic intellectual disability
• SYNGAP1-related non-syndromic intellectual disability
• SYNGAP1-related NSID - See SYNGAP1-related non-syndromic intellectual disability
• Syngnathia cleft palate
• Syngnathia multiple anomalies
• Synostoses multiple with brachydactyly - See Multiple synostoses syndrome 1
• Synostoses, tarsal, carpal, and digital
• Synostosis of talus and calcaneus short stature
• Synovial cell sarcoma - See Synovial sarcoma
• Synovial Chondromatosis
• Synovial chondromatosis, familial with dwarfism
• Synovial osteochondromatosis - See Synovial Chondromatosis
• Synovial sarcoma
• Synovialosarcoma - See Synovial sarcoma
• Synovitis
• Synovitis acne pustulosis hyperostosis osteitis - See SAPHO syndrome
• Synovitis granulomatous with uveitis and cranial neuropathies - See Blau syndrome
• Synovitis, Acne, Pustlosis, Hyperostosis, and Osteomyelitis - See SAPHO syndrome
• Synpolydactyly - See Syndactyly type 2
• SYNS1 - See Multiple synostoses syndrome 1
• SYNS2 - See Multiple synostoses syndrome 2
• Synspondylism congenital - See Spondylocarpotarsal synostosis syndrome
• Syphilitic aseptic meningitis
• Syphilitic meningitis - See Syphilitic aseptic meningitis
• Syphilitic myelopathy
• Syringobulbia
• Syringocystadenoma papilliferum
• Syringoma - not a rare disease
• Syringomyelia
• Systemic AL amyloidsis - See AL amyloidosis
• Systemic candida infections - See Systemic candidiasis
• Systemic candidiasis
• Systemic capillary leak syndrome
• Systemic exertion intolerance disease - See Chronic fatigue syndrome - not a rare disease
• Systemic hemosiderosis due to aceruloplasminemia - See Aceruloplasminemia
• Systemic IgG4-related plasmacytic syndrome - See IgG4-related disease
• Systemic IgG4-related sclerosing syndrome - See IgG4-related disease
• Systemic juvenile idiopathic arthritis - See Systemic onset juvenile idiopathic arthritis
• Systemic lupus erythematosus - See Lupus - not a rare disease
• Systemic mast cell disease - See Systemic mastocytosis
• Systemic mastocytosis
• Systemic necrotizing angitis
• Systemic onset juvenile idiopathic arthritis
• Systemic onset juvenile rheumatoid arthritis - See Systemic onset juvenile idiopathic arthritis
• Systemic polyarthritis - See Systemic onset juvenile idiopathic arthritis
• Systemic primary carnitine deficiency - See Primary carnitine deficiency
• Systemic scleroderma
• Systemic sclerosis - See Systemic scleroderma
• Systemic sclerosis sine scleroderma - See Limited systemic sclerosis
• SYSTEMIC SCLEROSIS, SUSCEPTIBILITY TO - See CREST syndrome
• Systemic-onset JIA - See Systemic onset juvenile idiopathic arthritis
• Systemic-onset juvenile idiopathic arthritis - See Systemic onset juvenile idiopathic arthritis