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Disease	Synonyms	Description	Articles
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
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 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. [-]

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