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

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





Browse the GARD list of rare diseases and related terms to find topics of interest to you. This list includes the main name for each condition, as well as alternate names. Inclusion on this list does not serve as official recognition by the NIH that a disease is rare. Some conditions that are not considered rare are on this list and are labeled accordingly.Read more about which diseases are included on the GARD website.



S 2/2

• SLC13A5 deficiency - See Early infantile epileptic encephalopathy 25
• SLC29A3 spectrum disorder - See Histiocytosis-lymphadenopathy plus syndrome
• SLC35A1-CDG - See SLC35A1-CDG (CDG-IIf)
• SLC35A1-CDG (CDG-IIf)
• SLC35A2-CDG
• SLC35C1-CDG (CDG-IIc)
• SLC4A1-associated distal renal tubular acidosis
• SLC6A3-Related Dopamine Transporter Deficiency Syndrome - See Dopamine transporter deficiency syndrome
• SLE - See Lupus - not a rare disease
• Sleeping sickness - See Trypanosomiasis, Human East-African
• Slipped capital femoral epiphysis - not a rare disease
• SLK - See Superior limbic keratoconjunctivitis
• SLO syndrome - See Smith-Lemli-Opitz syndrome
• SLOS - See Smith-Lemli-Opitz syndrome
• Slow channel congenital myasthenic syndrome - See Slow-channel congenital myasthenic syndrome
• Slow-channel congenital myasthenic syndrome
• SLS - See Sjogren-Larsson syndrome
• SLSD with SCID - See Achondroplasia and severe combined immunodeficiency
• SLSJ syndrome - See MPI-CDG (CDG-Ib)
• Slti Salem syndrome
• Sly syndrome - See Mucopolysaccharidosis type VII
• SM syndrome - See Singleton-Merten syndrome
• SMA - See Spinal muscular atrophy
• SMA - See Proximal spinal muscular atrophy
• SMA 3 - See Spinal muscular atrophy type 3
• SMA 4 - See Spinal muscular atrophy type 4
• SMA II - See Spinal muscular atrophy type 2
• SMA type 1 - See Spinal muscular atrophy 1
• SMA type I - See Spinal muscular atrophy 1
• SMA, infantile acute form - See Spinal muscular atrophy 1
• SMA1 - See Spinal muscular atrophy 1
• SMA1 with congenital bone fractures - See Spinal muscular atrophy type 1 with congenital bone fractures
• SMA2 - See Spinal muscular atrophy type 2
• SMA3 - See Spinal muscular atrophy type 3
• SMA-I - See Spinal muscular atrophy 1
• SMALED1 - See Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1
• SMA-LED1 - See Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1
• SMALED2 - See Autosomal dominant spinal muscular atrophy, lower extremity-predominant 2
• Small benign fibrovascular tumor of the dermal part of the hair disk - See Familial multiple trichodiscomas
• Small bowel adenocarcinoma - See Small Intestinal Adenocarcinoma
• Small bowel tumors - See Small intestine cancer
• Small cell bladder cancer - See Small cell carcinoma of the bladder
• Small cell bladder carcinoma - See Small cell carcinoma of the bladder
• Small cell carcinoma of the bladder
• Small cell carcinoma of the ovary - See Ovarian small cell carcinoma
• Small cell carcinoma of the urinary bladder - See Small cell carcinoma of the bladder
• Small cell lung cancer
• Small Cell Neuroendocrine Carcinoma of the Lung - See Small cell lung cancer
• Small cell variant of anaplastic large cell lymphoma - See Anaplastic small cell lymphoma
• Small Intestinal Adenocarcinoma
• Small intestinal atresia - See Atresia of small intestine
• Small intestinal atresia - See Jejunal atresia
• Small intestine atresia - See Atresia of small intestine
• Small intestine cancer
• Small intestine cancer, childhood
• Small patella syndrome
• Smallpox
• SMARD1 - See Spinal muscular atrophy with respiratory distress 1
• SMCD - See Systemic mastocytosis
• SMD - See Spondyloepimetaphyseal dysplasia Strudwick type
• SMD Axial - See Axial spondylometaphyseal dysplasia
• SMD Kozlowski type - See Spondylometaphyseal dysplasia, Kozlowski type
• SMD with with bowed forearms and facial dysmorphism - See Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism
• SMD-CRD - See Spondylometaphyseal dysplasia with cone-rod dystrophy
• SME - See Dravet syndrome
• SMECE - See Sclerosing mucoepidermoid carcinoma with eosinophilia
• Smed short limb-abnormal calcification type - See Spondylometaepiphyseal dysplasia short limb-hand type
• SMED short limb-hand type - See Spondylometaepiphyseal dysplasia short limb-hand type
• SMED Strudwick type - See Spondyloepimetaphyseal dysplasia Strudwick type
• SMED type 1 - See Spondyloepimetaphyseal dysplasia Strudwick type
• SMED type 2 - See Spondylometaepiphyseal dysplasia short limb-hand type
• SMED-SL - See Spondylometaepiphyseal dysplasia short limb-hand type
• SMEI - See Dravet syndrome
• Smith Fineman Myers syndrome - See Mental retardation Smith Fineman Myers type
• Smith Lemli Opitz syndrome - See Smith-Lemli-Opitz syndrome
• Smith McCort dysplasia
• Smith-Kingsmore syndrome
• Smith-Lemli-Opitz syndrome
• Smith-Magenis syndrome
• Smith-McCort dwarfism - See Smith McCort dysplasia
• SMMCI - See Single upper central incisor
• SMNA - See Spinocerebellar ataxia 18
• SMRXS - See Mental retardation X-linked syndromic 11
• SMS - See Stiff person syndrome
• SMS - See Smith-Magenis syndrome
• SNDI - See Striatonigral degeneration infantile
• SNE - See Leigh syndrome
• Sneddon syndrome
• Sneddon Wilkinson disease - See Subcorneal pustular dermatosis
• Sneddon's syndrome - See Sneddon syndrome
• Sneddon-Wilkinson disease - See Subcorneal pustular dermatosis
• Sneezing from light exposure - See Autosomal dominant compelling helio ophthalmic outburst syndrome
• Snowflake degeneration in hereditary vitreoretinal degeneration - See Snowflake vitreoretinal degeneration
• Snowflake vitreoretinal degeneration
• Snub-nosed type of dwarfism - See Dwarfism Levi type
• SNUC - See Sinonasal undifferentiated carcinoma
• Snyder-Robinson syndrome
• SOD - See Septo-optic dysplasia spectrum
• Sodium channel muscle disease - See Hyperkalemic periodic paralysis
• Soft tissue sarcoma
• Soft tissue sarcoma childhood
• Sohar-Crisponi syndrome - See Cold-induced sweating syndrome
• Sohval Soffer syndrome
• Solitary histiocytoma - See Reticulohistiocytoma
• Solitary mastocytoma - See Cutaneous mastocytoma
• Solitary median maxillary central incisor - See Single upper central incisor
• Solitary median maxillary central incisor syndrome - See Single upper central incisor
• Solitary plasmacytoma - See Plasmacytoma
• Solitary reticulohistiocytosis - See Reticulohistiocytoma
• Somatomedin end-organ insensitivity to - See Insulin-like growth factor 1 resistance to
• Somatomedin-c resistance to - See Insulin-like growth factor 1 resistance to
• Somatomedin-secreting carcinoid - See Somatostatinoma
• Somatostatinoma
• Somatostatin-secreting pancreatic neoplasm - See Somatostatinoma
• Somatotroph adenoma - See Acromegaly
• Somerville-Van Der AA syndrome - See 7q11.23 duplication syndrome
• Sommer Hines syndrome - See Tetramelic monodactyly
• Sommer Rathbun Battles syndrome - See Aniridia renal agenesis psychomotor retardation
• Sommer-Hines syndrome - See Tetramelic monodactyly
• Sommer-Young-Wee-Frye syndrome - See Craniofacial deafness hand syndrome
• Sondheimer syndrome - See Coarse face hypotonia constipation
• Sonoda syndrome
• SOPH syndrome - See Short stature with optic atrophy and Pelger-Huët anomaly syndrome
• Sorensen syndrome - See Stampe sorensen syndrome
• Sorsby syndrome - See Coloboma of macula with type B brachydactyly
• Sorsby's pseudoinflammatory macular dystrophy - See Fundus dystrophy, pseudoinflammatory, of Sorsby
• SOS1 gene related Noonan syndrome - See Noonan syndrome
• Sosby syndrome
• SOST - See Sclerosteosis
• Sotos syndrome
• South american blastomycosis - See Paracoccidioidomycosis
• South American pemphigus - See Pemphigus and fogo selvagem
• South American trypanosomiasis - See Chagas disease - not a rare disease
• SOX2 anophthalmia syndrome - See Syndromic microphthalmia, type 3
• SOX2-related eye disorders - See Syndromic microphthalmia, type 3
• Spahr type Metaphyseal chondrodysplasia - See Metaphyseal chondrodysplasia Spahr type
• Sparse hair and mental retardation - See Nicolaides-Baraitser syndrome
• Sparse hair, prominent nose, small mouth, micrognathia, cleft palate, crumpled upper helices, digit anomaly, and mild developmental delay - See Crumpled helices and small mouth
• Sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation - SeeThumb deformity, alopecia, pigmentation anomaly
• Spasmodic dysphonia
• Spasmodic torticollis - See Cervical dystonia
• Spastic angina with healthy coronary artery
• Spastic ataxia 4, autosomal recessive - See Autosomal recessive spastic ataxia 4
• Spastic ataxia Charlevoix-Saguenay type
• Spastic ataxia of Charlevoix-Saguenay - See Spastic ataxia Charlevoix-Saguenay type
• Spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs - SeeMousa Al din Al Nassar syndrome
• Spastic diplegia cerebral palsy
• Spastic diplegia infantile type
• Spastic dysphonia - See Spasmodic dysphonia
• Spastic hemiplegia cerebral palsy - See Cerebral palsy spastic hemiplegic
• Spastic hemiplegic cerebral palsy - See Cerebral palsy spastic hemiplegic
• Spastic monoplegia cerebral palsy - See Cerebral palsy spastic monoplegic
• Spastic monoplegic cerebral palsy - See Cerebral palsy spastic monoplegic
• Spastic paralysis, infantile onset ascending - See Infantile-onset ascending hereditary spastic paralysis
• Spastic paraparesis
• Spastic paraparesis - deafness - See Wells-Jankovic syndrome
• Spastic paraparesis, childhood-onset, with distal muscle wasting - See Troyer syndrome
• Spastic paraplegia - intellectual deficit - thin corpus callosum - See Spastic paraplegia 11
• Spastic paraplegia - nephritis - deafness - See Fitzsimmons Walson Mellor syndrome
• Spastic paraplegia 1
• Spastic paraplegia 10
• Spastic paraplegia 11
• Spastic paraplegia 12
• Spastic paraplegia 13
• Spastic paraplegia 14
• Spastic paraplegia 15
• Spastic paraplegia 16
• Spastic paraplegia 17
• Spastic paraplegia 18
• Spastic paraplegia 19
• Spastic paraplegia 2
• Spastic paraplegia 20 - See Troyer syndrome
• Spastic paraplegia 20, autosomal recessive - See Troyer syndrome
• Spastic paraplegia 23
• Spastic paraplegia 24
• Spastic paraplegia 25
• Spastic paraplegia 26
• Spastic paraplegia 29
• Spastic paraplegia 3
• Spastic paraplegia 31
• Spastic paraplegia 31, autosomal dominant - See Spastic paraplegia 31
• Spastic paraplegia 32
• Spastic paraplegia 35, autosomal recessive - See Fatty acid hydroxylase-associated neurodegeneration
• Spastic paraplegia 39
• Spastic paraplegia 4
• Spastic paraplegia 51
• Spastic paraplegia 51, autosomal recessive - See Spastic paraplegia 51
• Spastic paraplegia 5A
• Spastic paraplegia 5B
• Spastic paraplegia 6
• Spastic paraplegia 7
• Spastic paraplegia 8
• Spastic paraplegia 9
• Spastic paraplegia and distal muscle wasting caused by neuropathy target esterase gene mutation
• Spastic paraplegia and pigmentary abnormalities - See Spastic paraplegia 23
• Spastic paraplegia and retinal degeneration - See Spastic paraplegia 15
• Spastic paraplegia associated with brachydactyly type E - See Fitzsimmons-Guilbert syndrome
• Spastic paraplegia facial cutaneous lesions
• Spastic paraplegia neuropathy poikiloderma
• Spastic paraplegia type 5A - See Spastic paraplegia 5A
• Spastic paraplegia vitiligo premature graying and characteristic facies - See Spastic paraplegia 23
• Spastic paraplegia with amyotrophy of hands and feet - See Spastic paraplegia 17
• Spastic paraplegia with iron deposits in basal ganglia - See Arena syndrome
• Spastic paraplegia with precocious puberty
• Spastic paraplegia, autosomal recessive, Troyer type - See Troyer syndrome
• Spastic paraplegia, bilateral sensorineural deafness, intellectual retardation, and progressive nephropathy - SeeFitzsimmons Walson Mellor syndrome
• Spastic paraplegia-epilepsy-intellectual disability syndrome
• Spastic paraplegia-glaucoma-intellectual disability syndrome
• Spastic quadriplegia cerebral palsy - See Cerebral palsy spastic quadriplegic
• Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome - See Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
• Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome - See Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
• Spastic quadriplegic cerebral palsy - See Cerebral palsy spastic quadriplegic
• Spastic tetraplegia cerebral palsy - See Cerebral palsy spastic quadriplegic
• Spastic tetraplegia, thin corpus callosum, and progressive microcephaly - See Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
• Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
• Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
• Spasticity multiple exostoses
• SPATCCM - See Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
• SPAX4 - See Autosomal recessive spastic ataxia 4
• SPD - See Syndactyly type 2
• Spear syndrome - See Microphthalmia syndromic 9
• Specific antibody deficiency
• Specific granule deficiency - See Neutrophil-specific granule deficiency
• Specific language impairment - See Developmental dysphasia familial
• Speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering - See Epidermolysis bullosa simplex with mottled pigmentation
• Speech and language disorder with orofacial dyspraxia - See Childhood apraxia of speech
• Speech-language disorder type 1 - See Childhood apraxia of speech
• Speech-language disorder-1 - See Childhood apraxia of speech
• SPEL syndrome - See Syndactyly-polydactyly-earlobe syndrome
• SPEMR - See Spastic paraplegia-epilepsy-intellectual disability syndrome
• SPENCD - See Spondyloenchondrodysplasia
• Spermatogenesis arrest
• SPERMATOGENIC FAILURE 5 - See Macrozoospermia
• SPERMATOGENIC FAILURE 9 - See Globozoospermia
• SPG - See Hereditary spastic paraplegia
• SPG 23 - See Spastic paraplegia 23
• SPG1 - See L1 syndrome
• SPG10 - See Spastic paraplegia 10
• SPG11 - See Spastic paraplegia 11
• SPG12 - See Spastic paraplegia 12
• SPG13 - See Spastic paraplegia 13
• SPG14 - See Spastic paraplegia 14
• SPG15 - See Spastic paraplegia 15
• SPG16 - See Spastic paraplegia 16
• SPG17 - See Spastic paraplegia 17
• SPG18 - See Spastic paraplegia 18
• SPG19 - See Spastic paraplegia 19
• SPG2 - See Spastic paraplegia 2
• SPG20 - See Troyer syndrome
• SPG24 - See Spastic paraplegia 24
• SPG25 - See Spastic paraplegia 25
• SPG26 - See Spastic paraplegia 26
• SPG29 - See Spastic paraplegia 29
• SPG3 - See Spastic paraplegia 3
• SPG31 - See Spastic paraplegia 31
• SPG32 - See Spastic paraplegia 32
• SPG35 - See Fatty acid hydroxylase-associated neurodegeneration
• SPG39 - See Spastic paraplegia 39
• SPG3A - See Spastic paraplegia 3
• SPG4 - See Spastic paraplegia 4
• SPG49 - See Autosomal recessive spastic paraplegia type 49
• SPG51 - See Spastic paraplegia 51
• SPG5A - See Spastic paraplegia 5A
• SPG5B - See Spastic paraplegia 5B
• SPG6 - See Spastic paraplegia 6
• SPG7 - See Spastic paraplegia 7
• SPG8 - See Spastic paraplegia 8
• SPG9 - See Spastic paraplegia 9
• SPGF5 - See Macrozoospermia
• SPGF9 - See Globozoospermia
• Sphenoethmoidal encephalomeningocele agenesis of the corpus callosum and cleft lip/palate - See Sakoda complex
• Spherocytic anemia - See Hereditary spherocytosis
• Spheroid body myopathy
• Spherophakia-brachymorphia syndrome - See Weill-Marchesani syndrome
• Sphingolipidoses - See Sphingolipidosis
• Sphingolipidosis
• Sphingolipidosis 1 - See Gaucher disease
• Sphingolipidosis, Tay-Sachs - See Tay-Sachs disease
• Sphingomyelin lipidosis - See Niemann-Pick disease type A
• Sphingomyelinase deficiency - See Niemann-Pick disease type A
• Spiegler-Brooke syndrome - See Brooke-Spiegler syndrome
• Spielmeyer Sjogren disease - See Neuronal ceroid lipofuscinosis 3
• Spina bifida
• Spina bifida hypospadias
• Spina bifida occulta - not a rare disease
• Spinal and bulbar muscular atrophy - See Kennedy disease
• Spinal arachnoiditis - See Arachnoiditis
• Spinal arteriovenous metameric syndrome - See Cobb syndrome
• Spinal atrophy ophthalmoplegia pyramidal syndrome
• Spinal bulbar motor neuropathy
• Spinal CSF leak - See Cerebrospinal fluid leak
• Spinal disc herniation with autosomal recessive spastic paraplegia - See Spastic paraplegia 25
• Spinal dysostosis type Anhalt
• Spinal dysraphism - See Spina bifida
• Spinal intradural arachnoid cysts
• Spinal meningioma
• Spinal muscular atrophy
• Spinal muscular atrophy 1
• Spinal muscular atrophy 4 - See Spinal muscular atrophy type 4
• Spinal muscular atrophy juvenile nonprogressive - See Monomelic amyotrophy
• Spinal muscular atrophy Ryukyuan type
• Spinal muscular atrophy type 1 with congenital bone fractures
• Spinal muscular atrophy type 2
• Spinal muscular atrophy type 3
• Spinal muscular atrophy type 4
• Spinal muscular atrophy type II - See Spinal muscular atrophy type 2
• Spinal muscular atrophy with respiratory distress 1
• Spinal muscular atrophy, adult form - See Spinal muscular atrophy type 4
• Spinal muscular atrophy, distal, autosomal recessive, 1 - See Spinal muscular atrophy with respiratory distress 1
• Spinal muscular atrophy, Jerash type - See Neuropathy, distal hereditary motor, Jerash type
• Spinal muscular atrophy, lower extremity-predominant 1, AD - See Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1
• Spinal muscular atrophy, lower extremity-predominant 1, dominant - See Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1
• Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant - See Autosomal dominant spinal muscular atrophy, lower extremity-predominant 2
• Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant - See Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1
• Spinal muscular atrophy, mild childhood and adolescent form - See Spinal muscular atrophy type 3
• Spinal muscular atrophy, proximal, adult, autosomal recessive - See Spinal muscular atrophy type 4
• Spinal shock
• Spindle cell rhabdomyosarcomas (type of ERMS) - See Rhabdomyosarcoma embryonal
• Spine rigid cardiomyopathy
• Spinobulbar muscular atrophy - See Kennedy disease
• 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
• Spinocerebellar degenerescence book type
• 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, 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
• Spranger Schinzel Myers syndrome
• 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 type 2
• 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
• Stampe sorensen 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
• Sterility due to immotile flagella
• Stern Lubinsky Durrie syndrome - See Corneodermatoosseous syndrome
• Sternal cleft
• Sternal cyst vascular anomalies
• Sternal malformation vascular dysplasia associatio
• 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
• 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 cancer, childhood
• Stomach carcinoma - See Stomach cancer
• Stomach carcinoma, childhood - See Stomach cancer, childhood
• Stomach carcinoma, familial - See Familial stomach cancer
• Stomach Lymphoma, Non-Hodgkins type - See Lymphoma, gastric non Hodgkins type
• Stomatocytosis I
• Stomatocytosis II
• 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-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 short stature syndrome
• Subcorneal pustular dermatitis - See Subcorneal pustular dermatosis
• Subcorneal pustular dermatosis
• Subcortical band heterotopia
• Subcortical laminar heterotopia, X-linked, - See Lissencephaly X-linked
• 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 acidemia lactic acidosis congenital
• 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
• 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 primitive neuroectodermal tumor
• Supratentorial primitive neuroectodermal tumors, childhood
• 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 craniosynostosis
• Symphalangism brachydactyly syndrome - See Multiple synostoses syndrome 1
• Symphalangism distal
• Symphalangism short stature accessory testis
• 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
• Syncamptodactyly scoliosis
• 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 opticoacoustic nerve atrophy with dementia - See Jensen 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 cancer
• Synovial Chondromatosis
• Synovial chondromatosis, familial with dwarfism
• Synovial osteochondromatosis - See Synovial Chondromatosis
• 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
• Syringomas natal teeth oligodontia
• Syringomelia hyperkeratosis
• 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 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