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Disease	Synonyms	Description	Articles
SATB2-associated syndrome	2q32-q33 microdeletion syndrome; 2q32q33 microdele.. [+] 2q32-q33 microdeletion syndrome; 2q32q33 microdeletion syndrome; Glass syndrome; monosomy 2q32q33; chromosome 2q32-q33 deletion syndrome; monosomy 2q32; monosomy 2q32-q33; [-]	A syndrome that has_material_basis_in genetic chan..[+] A syndrome that has_material_basis_in genetic changes that affect the SATB2 gene and that is characterized by mild to severe intellectual disability, a delayed or absent ability to speak, severe speech anomalies, abnormalities of the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2. [-]
SHORT syndrome	Aarskog-Ose-Pande syndrome; Lipodystrophy-Rieger a.. [+] Aarskog-Ose-Pande syndrome; Lipodystrophy-Rieger anomaly-diabetes syndrome; Rieger anomaly-partial lipodystrophy syndrome; short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay; [-]	A syndrome of multiple anomalies whose name stands..[+] A syndrome of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13. [-]
SHOX-related short stature	idiopathic familial short stature;	A bone development disease characterized by height..[+] A bone development disease characterized by height below the third percentile for chronological age that has_material_basis_in mutation in the SHOX gene or the SHOXY gene on chromosomes Xp22.33 and Yp11.2, respectively. [-]
SM-AHNMD	systemic mastocytosis with associated clonal haema.. [+] systemic mastocytosis with associated clonal haematological non-mast cell lineage disease; systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease (morphologic abnormality); systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease; [-]	n_a
SMARCB1-deficient renal medullary carcinoma	kidney medullary carcinoma; medullary carcinoma of.. [+] kidney medullary carcinoma; medullary carcinoma of the kidney; medullary renal cell carcinoma; RMC; renal medullary carcinoma; [-]	A renal cell carcinoma that develops in the renal ..[+] A renal cell carcinoma that develops in the renal medulla. [-]
SOST-related sclerosing bone dysplasia	van Buchem disease;	A hyperostosis that has_material_basis_in a mutati..[+] A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull. [-]
SPOAN syndrome	spastic paraplegia, optic atropy, and neuropathy; .. [+] spastic paraplegia, optic atropy, and neuropathy; spastic paraplegia, optic atropy, and neuropathy syndrome; [-]	A neurodegenerative disease characterized by spast..[+] A neurodegenerative disease characterized by spastic paraplegia, axonal neuropathy, dysarthria, acoustic startle, and congenital optical atrophy and that has_material_basis_in homozygous mutation in the KLC2 gene on chromosome 11q13.2. [-]
ST2 diffuse large B-cell lymphoma	ST2 DLBCL;	A diffuse large B-cell lymphoma that is categorize..[+] A diffuse large B-cell lymphoma that is categorized as ST2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and ST2 DLBCLs often, but do not always, have missense or nonsense mutations affecting TET2 and NFKBIA. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting some combination of SGK1, ZFP36L1, SOCS1, HIST1H1E and CD83, which can be coding or non-coding. [-]
STING-associated vasculopathy with onset in infancy	SAVI;	An autoimmune disease of the cardiovascular system..[+] An autoimmune disease of the cardiovascular system characterized by onset in infancy of autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis, and, in some cases, amputation that has_material_basis_in heterozygous gain of function mutation in the TMEM173 gene on chromosome 5q31. [-]
Sabinas brittle hair syndrome	brittle hair-mental deficiency syndrome; trichothi.. [+] brittle hair-mental deficiency syndrome; trichothiodystrophy type B; [-]	A nonphotosensitive trichothiodystrophy characteri..[+] A nonphotosensitive trichothiodystrophy characterized by congenital hypotrichosis, mild to moderate onychodysplasia, varying intellectual disability, and sterility. [-]
Saethre-Chotzen syndrome	acrocephalosyndactyly type III;	An acrocephalosyndactylia that has_material_basis_..[+] An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull. [-]
Sakati-Nyhan syndrome	ACPS with leg hypoplasia; acrocephalopolysyndactyl.. [+] ACPS with leg hypoplasia; acrocephalopolysyndactyly type 3; Sakati-Nyhan-Tisdale syndrome; acrocephalopolysyndactyly Type III; Sakati syndrome; [-]	An acrocephalosyndactylia characterized by abnorma..[+] An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections. [-]
Sandestig-Stefanova syndrome		A syndrome that is characterized by microcephaly, ..[+] A syndrome that is characterized by microcephaly, trigonocephaly, congenital cataracts, microphthalmia, facial findings, camptodactyly, periventricular white matter loss, thin corpus callosum, delayed myelination, and poor prognosis and that has_material_basis_in homozygous mutation in the NUP188 gene on chromosome 9q34. [-]
Sandhoff disease	Sandhoff Jatzkewitz disease;	A GM2 gangliosidosis that is characterized by an a..[+] A GM2 gangliosidosis that is characterized by an accumulation of GM2 gangliosides, particularly in neurons, and that has_material_basis_in mutation in the beta subunit of hexosaminidase (HEXB) on chromosome 5q13. [-]
Saul-Wilson syndrome	microcephalic osteodysplastic dysplasia, Saul-Wils.. [+] microcephalic osteodysplastic dysplasia, Saul-Wilson type; SWILS; [-]	A bone development disease characterized by early ..[+] A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has_material_basis_in heterozygous mutation in the COG4 gene on chromosome 16q22.1. [-]
Schaaf-Yang syndrome	MAGEL2-related Prader-Willi-like syndrome; MAGEL2-.. [+] MAGEL2-related Prader-Willi-like syndrome; MAGEL2-related PWLS; PWLS; SHFYNG; [-]	A syndrome characterized by delayed psychomotor de..[+] A syndrome characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the maternally imprinted gene MAGEL2 on chromosome 15q11.2. [-]
Scheie syndrome	mucopolysaccharidosis type 1S; mucopolysaccharidos.. [+] mucopolysaccharidosis type 1S; mucopolysaccharidosis type IS; mucopolysaccharidosis type V; [-]	A mucopolysaccharidosis characterized by corneal c..[+] A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan. [-]
Scheuermann's disease	Juvenile osteochondritis of the spine; Juvenile os.. [+] Juvenile osteochondritis of the spine; Juvenile osteochondrosis of Scheurermann; Scheuermann disease; Scheuermann's kyphosis; Juvenile osteochondrosis of spine; Sherman's Disease; [-]	An osteochondrosis that results_in abnormal bone g..[+] An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column. [-]
Schimke immuno-osseous dysplasia	immunoosseous dysplasia Schimke type; Schimke synd.. [+] immunoosseous dysplasia Schimke type; Schimke syndrome; spondyloepiphyseal dysplasia - nephrotic syndrome; Schimke immunoosseous dysplasia; [-]	A spondyloepiphyseal dysplasia characterized by sh..[+] A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene. [-]
Schindler disease	alpha-N-acetylgalactosaminidase deficiency; NAGA d.. [+] alpha-N-acetylgalactosaminidase deficiency; NAGA deficiency; [-]	A lysosomal storage disease that has_material_basi..[+] A lysosomal storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. [-]
Schindler disease type 1	alpha-N-acetylgalactosaminidase deficiency type 1;.. [+] alpha-N-acetylgalactosaminidase deficiency type 1; NAGA deficiency type 1; [-]	A Schindler disease characterized by infantile ons..[+] A Schindler disease characterized by infantile onset of neuroaxonal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. [-]
Schindler disease type 3	alpha-N-acetylgalactosaminidase deficiency type 3;.. [+] alpha-N-acetylgalactosaminidase deficiency type 3; NAGA deficiency type 3; [-]	A Schindler disease characterized by mild to moder..[+] A Schindler disease characterized by mild to moderate neurologic manifestations with onset after infancy but earlier than in Schindler disease type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. [-]
Schinzel Giedion syndrome	Schinzel-Giedion midface retraction syndrome; SGS;.. [+] Schinzel-Giedion midface retraction syndrome; SGS; [-]	An ectodermal dysplasia characterized by distincti..[+] An ectodermal dysplasia characterized by distinctive facial features, hydronephrosis, severe developmental delay, typical skeletal malformations, genital and cardiac anomalies, and increased tumor prevalence that has_material_basis_in heterozygous mutation in the SETBP1 gene on chromosome 18q12.3. [-]
Schinzel type phocomelia	AARRS; absence of ulna and fibula with severe limb.. [+] AARRS; absence of ulna and fibula with severe limb deficiency; Al Awadi-Raas-Rothschild syndrome; Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome; aplasia/hypoplasia of limbs and pelvis; congenital absence of ulna and fibula; limb/pelvis-hypoplasia/aplasia syndrome; LPHAS; Schinzel phocomelia syndrome; severe limb deficit; [-]	A syndrome characterized by severe malformations o..[+] A syndrome characterized by severe malformations of upper and lower limbs,severely hypoplastic pelvis, and abnormal genitalia that has_material_basis_in homozygous or compound heterozygous mutation in the WNT7A gene on chromosome 3p25.1. [-]
Schmid metaphyseal chondrodysplasia	Japanese type spondylometaphyseal dysplasia; Schmi.. [+] Japanese type spondylometaphyseal dysplasia; Schmid type metaphyseal dysplasia ; [-]	A metaphyseal dysplasia that results_in dwarfism a..[+] A metaphyseal dysplasia that results_in dwarfism and bowed legs. [-]
Schneiderian carcinoma	Cylindrical cell carcinoma;	n_a
Schnitzler syndrome	Schnitzler syndrome (disorder);	A hypersensitivity reaction type IV disease that i..[+] A hypersensitivity reaction type IV disease that is characterized by chronic urticarial rash and monoclonal IgM gammopathy, has_symptom rash, intermittent fever, arthralgia, and lymphadenopathy. [-]
Schnyder corneal dystrophy	corneal dystrophy crystalline of Schnyder; crystal.. [+] corneal dystrophy crystalline of Schnyder; crystalline stromal dystrophy; Schnyder crystalline corneal dystrophy; SCCD; hereditary crystalline stromal dystrophy of Schnyder; [-]	A stromal dystrophy that is characterized by abnor..[+] A stromal dystrophy that is characterized by abnormal deposition of cholesterol and phospholipids in the cornea and that has_material_basis_in heterozygous mutation in the UBAID1 gene on chromosome 1p36. [-]
Schopf-Schulz-Passarge syndrome	keratosis palmoplantaris-cystic eyelids-hypodontia.. [+] keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome; palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome; SSPS; eccrine tumors-ectodermal dysplasia; palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome; [-]	An ectodermal dysplasia characterized by multiple ..[+] An ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WNT10A gene on chromosome 2q35. [-]
Schuurs-Hoeijmakers Syndrome	autosomal dominant mental retardation 17; MRD17; S.. [+] autosomal dominant mental retardation 17; MRD17; SHMS; [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PACS1 gene on chromosome 11q13.1-q13.2. [-]
Schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma		n_a
Schwartz-Jampel syndrome 1	Aberfeld syndrome; Burton syndrome; Catel-Hempel s.. [+] Aberfeld syndrome; Burton syndrome; Catel-Hempel syndrome; Catel-Hempel type dysostosis enchondralis metaepiphysaria; myotonic chondrodystrophy; myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Schwartz-Jampel-Aberfeld syndrome; Burton skeletal dysplasia; osteochondromuscular dystrophy; Schwartz-Jampel syndrome type 1; [-]	A syndrome characterized by neuromyotonia and chon..[+] A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36. [-]
Scott syndrome	familial prothrombin consumption inhibitor; platel.. [+] familial prothrombin consumption inhibitor; platelet-type bleeding disorder 7; prothrombin consumption deficiency; SCTS; bleeding abnormality due to deficiency of platelet biding of factor X; BDPLT7; familial prothrombin conversion defect; [-]	A blood coagulation disease characterized by autos..[+] A blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has_material_basis_in homozygous mutation in the TMEM16F gene on chromosome 12q12. [-]
Seckel syndrome	Harper's syndrome; microcephalic primordial dwarfi.. [+] Harper's syndrome; microcephalic primordial dwarfism; bird-headed dwarfism; Virchow-Seckel dwarfism; [-]	A syndrome characterized by intrauterine growth re..[+] A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability. [-]	2 articles
Seckel syndrome 1	microcephalic primordial dwarfism I; SCKL1;	A Seckel syndrome that has_material_basis_in homoz..[+] A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q23. [-]	1 articles
Seckel syndrome 10	SCKL10;	A Seckel syndrome that has_material_basis_in compo..[+] A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NSMCE2 gene on chromosome 8q24. [-]
Seckel syndrome 2	microcephalic primordial dwarfism 2; SCKL2; Seckel.. [+] microcephalic primordial dwarfism 2; SCKL2; Seckel-type dwarfism 2; [-]	A Seckel syndrome that has_material_basis_in homoz..[+] A Seckel syndrome that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11. [-]	1 articles
Seckel syndrome 4	SCKL4;	A Seckel syndrome that has_material_basis_in homoz..[+] A Seckel syndrome that has_material_basis_in homozygous mutation in the CENPJ gene on chromosome 13q12. [-]
Seckel syndrome 5	SCKL5;	A Seckel syndrome that has_material_basis_in homoz..[+] A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21. [-]
Seckel syndrome 6	SCKL6;	A Seckel syndrome that has_material_basis_in homoz..[+] A Seckel syndrome that has_material_basis_in homozygous mutation in the CEP63 gene on chromosome 3q22. [-]
Seckel syndrome 7	SCKL7;	A Seckel syndrome that has_material_basis_in compo..[+] A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NIN gene on chromosome 14q22. [-]
Seckel syndrome 8	SCKL8;	A Seckel syndrome that has_material_basis_in homoz..[+] A Seckel syndrome that has_material_basis_in homozygous mutation in the DNA2 gene on chromosome 10q21. [-]
Seckel syndrome 9	SCKL9;	A Seckel syndrome that has_material_basis_in homoz..[+] A Seckel syndrome that has_material_basis_in homozygous mutation in the TRAIP gene on chromosome 3p21. [-]
Sengers syndrome	mitochondrial DNA depletion syndrome 10; mitochond.. [+] mitochondrial DNA depletion syndrome 10; mitochondrial DNA depletion syndrome 10 (cardiomyopathic type); [-]	A mitochondrial DNA depletion syndrome that is cha..[+] A mitochondrial DNA depletion syndrome that is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis, but normal mental development, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the acylglycerol kinase gene on chromosome 7q34. [-]
Senile atrophy of choroid		n_a
Senior-Loken syndrome	renal-retinal syndrome; Loken Senior syndrome;	A syndrome characterized by progressive wasting of..[+] A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. [-]	1 articles
Sertoli cell tumor	tubular androblastoma NOS (morphologic abnormality.. [+] tubular androblastoma NOS (morphologic abnormality); tubular androblastoma; [-]	A sex cord-gonadal stromal tumor characterized by ..[+] A sex cord-gonadal stromal tumor characterized by excessive proliferation of Sertoli cells. [-]
Sertoli cell-only syndrome	DEL CASTILLO SYNDROME; Germinal Cell Aplasia;	A male infertility disease characterized by male s..[+] A male infertility disease characterized by male sterility, has_material_basis_in azospermia without abnormal sexual development. [-]
Sertoli-Leydig cell tumor		A sex cord-gonadal stromal tumor characterized by ..[+] A sex cord-gonadal stromal tumor characterized by variable proportions of Sertoli cells, Leydig cells, primitive gonadal stroma and/or heterologous elements located_in the ovaries and testicles. [-]
Sezary's disease	Sezary disease; Sezary syndrome;	n_a

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