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Disease	Synonyms	Description	Articles
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 characterized by au..[+] A hereditary retinal dystrophy characterized by autosomal dominant inheritance of loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life that has_material_basis_in heterozygous mutation in the 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. [-]
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. [-]
T-cell childhood lymphoblastic lymphoma	Childhood T lymphoblastic lymphoma;	A lymphoblastic lymphoma that has_material_basis_i..[+] A lymphoblastic lymphoma that has_material_basis_in T-cells and that occurs during childhood. [-]
T-cell immunodeficiency, congenital alopecia, and nail dystrophy	winged helix deficiency; alymphoid cystic thymic d.. [+] winged helix deficiency; alymphoid cystic thymic dysgenesis; severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome; [-]	A severe combined immunodeficiency characterized b..[+] A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has_material_basis_in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12. [-]
T-cell large granular lymphocyte leukemia	Large granular lymphocytic leukemia; T-cell large .. [+] Large granular lymphocytic leukemia; T-cell large granular lymphocyte leukaemia; Large granular lymphocytic leukaemia; [-]	A T-cell acute lymphocytic leukemia that exhibits ..[+] A T-cell acute lymphocytic leukemia that exhibits an unexplained, chronic (greater than 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood. [-]
T-cell non-Hodgkin lymphoma		A non-Hodgkin lymphoma of T-cell lineage.	1 articles
T-cell prolymphocytic leukemia	Prolymphocytic leukemia, T-cell type; T Cell Proly.. [+] Prolymphocytic leukemia, T-cell type; T Cell Prolymphocytic Leukemia; [-]	A prolymphocytic leukemia that is characterized by..[+] A prolymphocytic leukemia that is characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin. [-]
T2-high asthma	type 2 high endotype;	A chronic asthma that is characterized by the path..[+] A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of early-onset allergic asthma, late-onset eosinophilic asthma, and aspirin-exacerbated respiratory disease. [-]
T2-low asthma	type 2 low endotype;	A chronic asthma that is characterized by the path..[+] A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of non-atopic, smoking, obesity related, and elderly and that is characterized by neutrophilic (sputum neutrophils > 40–60%) or paucigranulocytic (i.e., normal sputum levels of both eosinophils and neutrophils) inflammation and a lack of response to corticosteroid therapy. [-]
TANGO2-related metabolic encephalopathy and arrythmias	metabolic encephalomyopathic crises, recurrent, wi.. [+] metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration; TANGO2 deficiency; [-]	A syndrome that is characterized by episodic metab..[+] A syndrome that is characterized by episodic metabolic degeneration affecting skeletal muscle, cardiac muscle, and the nervous system and that has_material_basis_in homozygous or compound heterozygous mutation in the TANGO2 gene on chromosome 22q11. [-]
TARP syndrome	Pierre Robin sequence-congenital heart defect-tali.. [+] Pierre Robin sequence-congenital heart defect-talipes syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome; TARPS; [-]	A syndrome characterized by talipes equinovarus, a..[+] A syndrome characterized by talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, cleft palate, and glossoptosis), and persistent left superior vena cava typically resulting in late prenatal or early postnatal mortality that has_material_basis_in hemizygous mutation in the RBM10 gene on chromosome Xp11.3. [-]	1 articles
TFE3-rearranged renal cell carcinoma	Renal Cell Carcinoma Associated with Xp11.2 Transl.. [+] Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions; Xp11 Translocation Renal Cell Carcinoma; [-]	A renal cell carcinoma with MiT translocations tha..[+] A renal cell carcinoma with MiT translocations that is characterized by the presence of different translocations involving the chromosome Xp11.2 and that result in the creation of gene fusions involving the TFE3 gene. [-]
TFEB-rearranged renal cell carcinoma	Renal Cell Carcinoma with t(6;11);(p21;q12); MALAT.. [+] Renal Cell Carcinoma with t(6;11);(p21;q12); MALAT1-TFEB; Renal Cell Carcinoma with t(6;11);(p21;q12); MALAT1::TFEB; t(6;11) Renal Cell Carcinoma; t(6;11);(p21;q12) Renal Cell Carcinoma; [-]	A renal cell carcinoma with MiT translocations tha..[+] A renal cell carcinoma with MiT translocations that is characterized by the presence of the chromosomal translocation t(6;11) which fuses the TFEB transcription factor gene, located on chromosome 6, with the MALAT1 gene, located on chromosome 11. [-]
TORCH syndrome		A syndrome that is characterized by congenital inf..[+] A syndrome that is characterized by congenital infection with toxoplasmosis, rubella, cytomegalovirus, herpes simplex, and other organisms. [-]
TSH producing pituitary tumor	Thyrotroph adenoma (disorder); TSH Secreting adeno.. [+] Thyrotroph adenoma (disorder); TSH Secreting adenoma of the Pituitary; TSH Secreting tumor of Pituitary; TSH producing pituitary tumour; TSH Secreting tumour of Pituitary; Thyrotroph adenoma; [-]	n_a

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