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Disease	Synonyms	Description	Articles
Sheehan syndrome	Postpartum Hypopituitarism; Sheehan's syndrome;	n_a
Shukla-Vernon syndrome	SHUVER;	A syndrome characterized by global developmental d..[+] A syndrome characterized by global developmental delay, variably impaired intellectual development, variable dysmorphic features, and behavioral abnormalities, including autism spectrum disorder and ADHD that has_material_basis_in hemizygous mutation in the BCORL1 gene on chromosome Xq26.1. [-]
Shwachman-Diamond syndrome	pancreatic insufficiency and bone marrow dysfuncti.. [+] pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome; Shwachman-Diamond type metaphyseal dysplasia; [-]	A syndrome characterized by exocrine pancreatic in..[+] A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. [-]	1 articles
Shwartzman phenomenon	Shwartzman reaction (function); Shwartzman reactio.. [+] Shwartzman reaction (function); Shwartzman reaction; [-]	n_a
Siberian tick typhus	North Asian tick fever; North Asian tick fever (di.. [+] North Asian tick fever; North Asian tick fever (disorder) [Ambiguous]; North Asian tick typhus (disorder); Rickettsia sibirica spotted fever; Siberian tick typhus (disorder); North Asian tick fever NOS (disorder); manchurian typhus; North Asian tick typhus; [-]	A spotted fever that has_material_basis_in Rickett..[+] A spotted fever that has_material_basis_in Rickettsia sibirica, which is transmitted_by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash. [-]
Siddiqi syndrome		A lipid storage disease that is characterized by g..[+] A lipid storage disease that is characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index and that has_material_basis_in homozygous or compound heterozygous mutation in the FITM2 gene on chromosome 20q13. [-]
Sifrim-Hitz-Weiss syndrome	CHD4 Neurodevelopmental Disorder; CHD4-related neu.. [+] CHD4 Neurodevelopmental Disorder; CHD4-related neurodevelopmental disorder; CHD4-related neurodevelopmental syndrome; SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME; SIHIWES; [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that is characterized by developmental delay, speech delay, usually mild-to-moderate intellectual disability, and variable congenital anomalies in other systems and that has_material_basis_in heterozygous mutation in the CHD4 gene on chromosome 12p13.31. [-]
Silo filler's disease	silo filler disease; Silo-fillers' disease;	A lung disease that is characterized by inhalation..[+] A lung disease that is characterized by inhalation of nitrogen oxides from exposure to silage gas in recently filled silos resulting in sudden death, pulmonary edema, and/or bronchiolitis obliterans. [-]
Silver-Russell syndrome	Silver Russell Dwarfism;	A physical disorder that is characterized by sever..[+] A physical disorder that is characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. [-]
Silverman-Handmaker type dyssegmental dysplasia		An osteochondrodysplasia characterized by short-li..[+] An osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding perlecan (HSPG2) on chromosome 1p36. [-]
Simpson-Golabi-Behmel syndrome type 1	DGSX Golabi-Rosen syndrome; Sara Angers syndrome; .. [+] DGSX Golabi-Rosen syndrome; Sara Angers syndrome; Simpson dysmorphia syndrome; X-linked dysplasia gigantism syndrome; bulldog syndrome; SGB syndrome; Golabi-Rosen syndrome; [-]	A syndrome characterized by pre- and postnatal ove..[+] A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 (GPC3) on chromosome Xq26. [-]
Simpson-Golabi-Behmel syndrome type 2		A syndrome that has_material_basis_in mutation in ..[+] A syndrome that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems. [-]
Sjogren's syndrome	Sicca syndrome; Sjogren syndrome; xerodermosteosis.. [+] Sicca syndrome; Sjogren syndrome; xerodermosteosis; [-]	An autoimmune disease that involves attack of immu..[+] An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva. [-]
Sjogren-Larsson syndrome	Sjogren Larsson syndrome; Sjogren-Larsson syndrome.. [+] Sjogren Larsson syndrome; Sjogren-Larsson syndrome (disorder); Sjogren-Larsson's syndrome; SLS; FALDH deficiency; fatty acid alcohol oxidoreductase deficiency; [-]	A syndrome that is characterized by ichthyosis, me..[+] A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11. [-]
Skene gland carcinoma	carcinoma of the paraurethral gland; paraurethral .. [+] carcinoma of the paraurethral gland; paraurethral gland carcinoma; [-]	n_a
Sly syndrome	deficiency of beta-glucuronidase; mucopolysacchari.. [+] deficiency of beta-glucuronidase; mucopolysaccharidosis VII; beta-glucuronidase deficiency; MPS VII - Sly syndrome; [-]	A mucopolysaccharidosis characterized by a deficie..[+] A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans. [-]
Smarca4-deficient sarcoma of thorax	SMARCA4-DTS;	A thoracic cancer that is characterized by poorly ..[+] A thoracic cancer that is characterized by poorly differentiated neoplasms with epithelioid/rhabdoid cells organized in a solid pattern and has_material_basis_in alterations in the switch/sucrose nonfermenting complex, also known in humans as BRG1-associated factors (BAF chromatin remodeling complex). [-]
Smith-Lemli-Opitz syndrome	Smith-Opitz-Inborn syndrome; Rutledge lethal multi.. [+] Smith-Opitz-Inborn syndrome; Rutledge lethal multiple congenital anomaly syndrome; [-]	n_a	2 articles
Smith-Magenis syndrome	17p11.2 microdeletion syndrome; chromosome 17p11.2.. [+] 17p11.2 microdeletion syndrome; chromosome 17p11.2 deletion syndrome; [-]	A chromosomal deletion syndrome that is characteri..[+] A chromosomal deletion syndrome that is characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material_basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region. [-]	2 articles
Smith-McCort dysplasia		A Dyggve-Melchior-Clausen disease that is characte..[+] A Dyggve-Melchior-Clausen disease that is characterized by short limbs and a short trunk with a barrel-shaped chest. [-]
Smith-McCort dysplasia 1		A Smith-McCort dysplasia that is characterized by ..[+] A Smith-McCort dysplasia that is characterized by short limbs and a short trunk with a barrel-shaped chest and has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene (607461) on chromosome 18q21. [-]
Smith-McCort dysplasia 2		A Smith-McCort dysplasia that is characterized by ..[+] A Smith-McCort dysplasia that is characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening and that has_material_basis_in homozygous or compound heterozygous mutation in the RAB33B gene on chromosome 4q31. [-]
Sneddon syndrome	Idiopathic livedo reticularis with systemic involv.. [+] Idiopathic livedo reticularis with systemic involvement (disorder); Idiopathic livedo reticularis with systemic involvement; [-]	An artery disease that is characterized by onset o..[+] An artery disease that is characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood and that has_material_basis_in compound heterozygous mutation in the CECR1 gene (ADA2) on chromosome 22q11. [-]
Sorsby's fundus dystrophy	hemorrhagic macular dystrophy; pseudoinflammatory .. [+] hemorrhagic macular dystrophy; pseudoinflammatory fundus dystrophy of Sorsby; SFD; [-]	A hereditary retinal dystrophy that is characteriz..[+] A hereditary retinal dystrophy that is characterized by loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TIMP metallopeptidase inhibitor 3 (TIMP3) gene on chromosome 22q12. [-]
Sotos syndrome	cerebral gigantism;	A syndrome that occurs rarely and is characterized..[+] A syndrome that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life. [-]	1 articles
Sotos syndrome 1	SOTOS1;	A Sotos syndrome that has_material_basis_in hetero..[+] A Sotos syndrome that has_material_basis_in heterozygous mutation in the NSD1 gene or deletion in the chromosome region 5q35 that includes the NSD1 gene. [-]
Sotos syndrome 2	SOTOS2;	A Sotos syndrome that has_material_basis_in hetero..[+] A Sotos syndrome that has_material_basis_in heterozygous mutation in the NFIX gene on chromosome 19p13. [-]
Sotos syndrome 3	SOTOS3;	A Sotos syndrome that has_material_basis_in homozy..[+] A Sotos syndrome that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13.3. [-]
St. Louis encephalitis	Neuroinvasive St. Louis encephalitis virus infecti.. [+] Neuroinvasive St. Louis encephalitis virus infection; [-]	A viral infectious disease that results_in inflamm..[+] A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis. [-]
Stargardt disease	STARGARDT DISEASE 1;	An age related macular degeneration that is charac..[+] An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness. [-]	1 articles
Stevens-Johnson syndrome		A skin disease that is characterized by ulceration..[+] A skin disease that is characterized by ulceration of less than 10 percent of the surface area of the body. The disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of infection. [-]
Stickler syndrome		A syndrome that is characterized by a distinctive ..[+] A syndrome that is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. [-]
Stickler syndrome 1		A Stickler syndrome that has_material_basis_in het..[+] A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13. [-]
Stickler syndrome 2		A Stickler syndrome that has_material_basis_in het..[+] A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21. [-]
Stiff-Person syndrome	Stiff-man syndrome; Stiff-man syndrome (disorder);.. [+] Stiff-man syndrome; Stiff-man syndrome (disorder); stiff man syndrome; [-]	A movement disease that is of unknown etiology cha..[+] A movement disease that is of unknown etiology characterized by progressive rigidity. [-]
Stocco Dos Santos type X-linked intellectual disability	SDSX; Stocco dos Santos X-linked mental retardatio.. [+] SDSX; Stocco dos Santos X-linked mental retardation syndrome; [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by severe intellectual disability, hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections that has_material_basis_in mutation in the SHROOM4 gene on chromosome Xp11.22. [-]
Stolerman neurodevelopmental syndrome		A syndrome that is characterized by developmental ..[+] A syndrome that is characterized by developmental delay, often with motor and speech delay, mildly impaired intellectual development (in most patients), learning difficulties, and behavioral abnormalities, including autism spectrum disorder and that has_material_basis_in heterozygous mutation in the KDM6B gene on chromosome 17p13. [-]
Stormorken syndrome	thrombocytopathy, asplenia and miosis;	A blood platelet disease characterized by thromboc..[+] A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It has_material_basis_in heterozygous mutation in the STM1 gene on chromosome 11p15. It has an autosomal dominant inheritance pattern. [-]
Streptococcus pneumonia		A bacterial pneumonia has_material_basis_in Strept..[+] A bacterial pneumonia has_material_basis_in Streptococcus pneumoniae. [-]
Stromme syndrome	CILD31; jejunal atresia with microcephaly and ocul.. [+] CILD31; jejunal atresia with microcephaly and ocular anomalies; lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome; primary ciliary dyskinesia 31; apple peel syndrome with microcephaly and ocular anomalies; [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41. [-]
Sturge-Weber syndrome	encephalofacial angiomatosis; encephalotrigeminal .. [+] encephalofacial angiomatosis; encephalotrigeminal angiomatosis; meningeal capillary angiomatosis; Sturge-Weber-Dimitri syndrome; Sturge-Weber-Krabbe syndrome; SWS; fourth phacomatosis; leptomeningeal angiomatosis; Sturge-Weber-Krabbe angiomatosis; [-]	A vascular disease characterized by intracranial v..[+] A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in the GNAQ gene on chromosome 9q21.2. [-]
Sugarman brachydactyly	brachydactyly with major proximal phalangeal short.. [+] brachydactyly with major proximal phalangeal shortening; [-]	A brachydactyly characterized by a nonarticulating..[+] A brachydactyly characterized by a nonarticulating great toe set dorsal and proximal to the typical position. [-]
Sveinsson chorioretinal atrophy	atrophia areata; helicoid peripapillary chorioreti.. [+] atrophia areata; helicoid peripapillary chorioretinal degeneration; HPCD; SCRA; peripapillary chorioretinal degeneration, Icelandic type; [-]	An eye disease characterized by presence in the fu..[+] An eye disease characterized by presence in the fundus of progressive bilateral retinal and choroidal atrophy leading to central vision loss that has_material_basis_in heterozygous mutation in TEAD1 on 11p15.3. [-]
Sweeney-Cox syndrome		A syndrome that is characterized by striking facia..[+] A syndrome that is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears and has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21. [-]
Sweet syndrome	Acute Febrile Neutrophilic Dermatosis; Sweet's syn.. [+] Acute Febrile Neutrophilic Dermatosis; Sweet's syndrome; [-]	A skin disease that is characterized by sudden ons..[+] A skin disease that is characterized by sudden onset of well defined tender plaques or nodules accompanied by fever, arthralgias, ocular inflammation, headaches and, rarely, oral or genital lesions. [-]
T cell and NK cell immunodeficiency		A primary immunodeficiency disease that involves m..[+] A primary immunodeficiency disease that involves multiple components of the immune system, including both T cell and NK cell immunodeficiency. [-]
T cell deficiency	T cell immunodeficiency; T lymphocyte deficiency; .. [+] T cell immunodeficiency; T lymphocyte deficiency; T lymphocyte immunodeficiency; [-]	A primary immunodeficiency disease that is charact..[+] A primary immunodeficiency disease that is characterized by decreased numbers of circulating or functioning T cells. [-]
T cell, B cell, and NK cell deficiency		A combined immunodeficiency characterized by impai..[+] A combined immunodeficiency characterized by impaired function or reduced numbers of T cells, B cells, and natural killer (NK) cells. [-]
T-cell acute lymphoblastic leukemia	Precursor T Lymphoblastic Leukemia; T-cell acute l.. [+] Precursor T Lymphoblastic Leukemia; T-cell acute lymphoblastic leukemia (disorder); acute T cell leukemia; precursor T-lymphoblastic lymphoma/leukemia; T Acute Lymphoblastic Leukemia; acute T cell leukaemia; T-cell acute lymphocytic leukaemia; T-cell leukemia; T-cell lymphoblastic leukemia/lymphoma; [-]	An acute lymphoblastic leukemia that is characteri..[+] An acute lymphoblastic leukemia that is characterized by too many T-cell lymphoblasts found in the bone marrow and blood. [-]	1 articles
T-cell adult acute lymphocytic leukemia	adult Precursor T Lymphoblastic Leukemia; Acute Ad.. [+] adult Precursor T Lymphoblastic Leukemia; Acute Adult T-cell Leukemia-Lymphoma; ATLL; [-]	An adult acute lymphocytic leukemia occurring in a..[+] An adult acute lymphocytic leukemia occurring in adults and that has_material_basis_in T cells. [-]

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