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Disease	Synonyms	Description
Sengers syndrome	mitochondrial DNA depletion syndrome 10	n_a
short chain acyl-CoA dehydrogenase deficiency		A lipid metabolism disorder that is characterized ..[+] A lipid metabolism disorder that is characterized by deficiency of the enzyme short chain acyl-CoA dehydrogenase that results in the inability to convert short chain fatty acids. [-]
superior semicircular canal dehiscence	superior semicircular canal dehiscence syndrome; s.. [+] superior semicircular canal dehiscence syndrome; superior canal syndrome; superior canal dehiscence; canal dehiscence syndrome; minorâ€™s syndrome; third mobile window syndrome [-]	An inner ear disease characterized by dehiscence i..[+] An inner ear disease characterized by dehiscence in the bone overlying the superior semicircular canal experience with symptoms of pressure or sound-induced vertigo, bone conduction hyperacusis, and pulsatile tinnitus. [-]
syndromic X-linked mental retardation Hough type		A syndromic X-linked intellectual disability that ..[+] A syndromic X-linked intellectual disability that is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures and that has_material_basis_in hemizygous or heterozygous mutation in the CNKSR2 gene on chromosome Xp22. [-]
spinocerebellar ataxia 44		An autosomal dominant cerebellar ataxia that has_m..[+] An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the GRM1 gene on chromosome 6q24. [-]
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). [-]
spinal muscular atrophy type 0	very severe spinal muscular atrophy	A childhood spinal muscular atrophy that is eviden..[+] A childhood spinal muscular atrophy that is evident before birth and characterized by diminished movement in the womb, joint deformities, extremely weak muscle tone and very weak respiratory muscles. [-]
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. [-]
Sweet syndrome	Sweet's syndrome; Acute Febrile Neutrophilic Derma.. [+] Sweet's syndrome; Acute Febrile Neutrophilic Dermatosis [-]	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. [-]
salivary gland mucinous adenocarcinoma		A salivary gland carcinoma that is characterized b..[+] A salivary gland carcinoma that is characterized by the presence of large pools of extracellular mucin in which clusters of malignant epithelial cells are found. [-]
subjective cognitive decline		A cognitive disorder that is characterized by the ..[+] A cognitive disorder that is characterized by the presence of significant and persistent cognitive complaints. [-]
supratentorial meningioma		A meningioma that affects the supratentorial brain..[+] A meningioma that affects the supratentorial brain. [-]
spinal ependymoma, MYCN-amplified	spinal ependymoma, MYCN; Spinal Cord Ependymoma, M.. [+] spinal ependymoma, MYCN; Spinal Cord Ependymoma, MYCN Amplified [-]	A spinal cord ependymoma that is characterized by ..[+] A spinal cord ependymoma that is characterized by MYCN amplification. [-]
solitary fibrous tumor/hemangiopericytoma		A connective tissue cancer that is characterized a..[+] A connective tissue cancer that is characterized as the combination of solitary fibrous tumors and hemangiopericytomas. [-]
spastic paraplegia with deafness	Spastic paraparesis-deafness syndrome; Wells Janko.. [+] Spastic paraparesis-deafness syndrome; Wells Jankovic Syndrome [-]	A hereditary spastic paraplegia that is characteri..[+] A hereditary spastic paraplegia that is characterized spastic paraplegia, tremor, cataracts, deafness, short stature, and hypogonadism presenting in the end of the first decade of life. [-]
short stature, hearing loss, retinitis pigmentosa, and distinctive facies		A syndrome that is characterized by short stature,..[+] A syndrome that is characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment and that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC2 gene on chromosome 9q34. [-]
supratentorial ependymoma, ZFTA fusion–positive		A suptratentorial ependymoma that is characterized..[+] A suptratentorial ependymoma that is characterized by the presence of a fusion gene involving ZFTA gene. [-]
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. [-]
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. [-]
salivary gland mucoepidermoid carcinoma		A mucoepidermoid carcinoma located_in the salivary..[+] A mucoepidermoid carcinoma located_in the salivary gland. [-]
sorbitol dehydrogenase deficiency with peripheral neuropathy	SORDD	A neuromuscular disease that is characterized by o..[+] A neuromuscular disease that is characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21. [-]
Schwartz-Jampel syndrome 1	Schwartz-Jampel-Aberfeld syndrome; Schwartz-Jampel.. [+] Schwartz-Jampel-Aberfeld syndrome; Schwartz-Jampel syndrome type 1; Aberfeld syndrome; Burton skeletal dysplasia; Burton syndrome; Catel-Hempel syndrome; Catel-Hempel type dysostosis enchondralis metaepiphysaria; myotonic chondrodystrophy; myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; osteochondromuscular dystrophy [-]	An autosomal recessive disease characterized by ne..[+] An autosomal recessive disease characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36. [-]
severe combined immunodeficiency with sensitivity to ionizing radiation	Severe combined immunodeficiency, Athabaskan type; .. [+] Severe combined immunodeficiency, Athabaskan type; Severe combined immunodeficiency, Athabascan type; Severe combined immunodeficiency due to DCLRE1C deficiency; Severe combined immunodeficiency due to artemis deficiency; SCID, Athabaskan type; SCID, Athabascan type; SCID due to DCLRE1C deficiency; SCID due to artemis deficiency; artemis deficiency [-]	A severe combined immunodeficiency characterized b..[+] A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has_material_basis_in mutation in the DCLRE1C gene on chromosome 10p13. [-]
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive	Severe combined immunodeficiency due to complete R.. [+] Severe combined immunodeficiency due to complete RAG1-2 deficiency; SCID due to complete RAG1-2 deficiency [-]	A severe combined immunodeficiency characterized b..[+] A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that has_material_basis_in mutation in the RAG1 and RAG2 genes on chromosome 11p12. [-]
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive	autosomal recessive T cell-negative, B-cell negati.. [+] autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID [-]	A severe combined immunodeficiency characterized b..[+] A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has_material_basis_in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31. [-]
sitosterolemia	phytosterolemia	An intestinal disease that is characterized by aut..[+] An intestinal disease that is characterized by autosomal recessive inheritance of unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG8 gene or in the ABCG5 gene, both of which are located on chromosome 2p21. [-]
split hand-foot malformation	split-hand deformity; lobster-claw deformity	A bone development disease characterized by malfor..[+] A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting. [-]
split hand-foot malformation 1	SHFM1; SHFD1	A split-hand/foot malformation that has_material_b..[+] A split-hand/foot malformation that has_material_basis_in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region. [-]
split hand-foot malformation 5	SHFM5	A split-hand/foot malformation that has_material_b..[+] A split-hand/foot malformation that has_material_basis_in deletions in the chromosome region 2q31. [-]
split hand-foot malformation 4	SHFM4	A split-hand/foot malformation that has_material_b..[+] A split-hand/foot malformation that has_material_basis_in heterozygous mutation in the TP63 on chromosome 3q28. [-]
split hand-foot malformation 1 with sensorineural hearing loss	SHFM1D; congenital deafness with split hands and f.. [+] SHFM1D; congenital deafness with split hands and feet [-]	A split-hand/foot malformation characterized by sp..[+] A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has_material_basis_in homozygous mutation in the DLX5 gene on chromosome 7q21. [-]
split hand-foot malformation 3	SHFM3; chromosome 10q24 duplication syndrome; dist.. [+] SHFM3; chromosome 10q24 duplication syndrome; distal limb deficiencies with micrognathia [-]	A split-hand/foot malformation that has_material_b..[+] A split-hand/foot malformation that has_material_basis_in a contiguous gene duplication syndrome on chromosome 10q24 [-]
split hand-foot malformation 6	SHFM6	A split-hand/foot malformation that has_material_b..[+] A split-hand/foot malformation that has_material_basis_in homozygous mutation in the WNT10B gene on chromosome 12q13. [-]
split hand-foot malformation 2	SHFM2	A split-hand/foot malformation that has_material_b..[+] A split-hand/foot malformation that has_material_basis_in variation in the chromosome region Xq26. [-]
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 homozygous or compound heterozygous mutation in the HSPG2 gene on chromosome 1p36. [-]
Sorsby's fundus dystrophy	SFD; hemorrhagic macular dystrophy; pseudoinflamma.. [+] SFD; hemorrhagic macular dystrophy; pseudoinflammatory fundus dystrophy of Sorsby [-]	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. [-]
spinocerebellar ataxia type 1 with axonal neuropathy	SCAN1; autosomal recessive spinocerebellar ataxia .. [+] SCAN1; autosomal recessive spinocerebellar ataxia with axonal neuropathy [-]	A nervous system disease characterized by autosoma..[+] A nervous system disease characterized by autosomal recessive inheritance of spinocerebellar ataxia and peripheral neuropathy that has_material_basis_in homozygosity for a mutation in the TDP1 gene on chromosome 14q32.11. [-]
spondylocarpotarsal synostosis syndrome	spondylocarpotarsal synostosis; spondylocarpotarsa.. [+] spondylocarpotarsal synostosis; spondylocarpotarsal syndrome; SCT; congenital scoliosis with unilateral unsegmented bar; congenital synspondylism; vertebral fusion with carpal coalition [-]	A bone development disease that is characterized b..[+] A bone development disease that is characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism, and that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the filamin B (FLNB) gene on chromosome 3p14.3. [-]
short-rib thoracic dysplasia 7 with or without polydactyly	SRTD7; short rib-polydactyly syndrome type V; SRPS.. [+] short rib-polydactyly syndrome type V; SRTD7; SRPS5; short rib-polydactyly syndrom type V [-]	An asphyxiating thoracic dystrophy that has_materi..[+] An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1. [-]
short-rib thoracic dysplasia 10 with or without polydactyly	SRTD10	An asphyxiating thoracic dystrophy that has_materi..[+] An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23. [-]
short-rib thoracic dysplasia 6 with or without polydactyly	SRPS2A; SRTD6; short rib-polydactyly syndrome type.. [+] SRTD6; SRPS2A; short rib-polydactyly syndrome type IIA; Majewski syndrome; polydactyly with neonatal chondrodystrophy, type II [-]	An asphyxiating thoracic dystrophy that has_materi..[+] An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the NEK1 gene on chromosome 4q33. [-]
short-rib thoracic dysplasia 13 with or without polydactyly	SRTD13	An asphyxiating thoracic dystrophy that has_materi..[+] An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the CEP120 gene on chromosome 5q23. [-]
short-rib thoracic dysplasia 8 with or without polydactyly	SRPS6; SRTD8; short rib-polydactyly syndrome type .. [+] SRTD8; SRPS6; short rib-polydactyly syndrome type VI [-]	An asphyxiating thoracic dystrophy that has_materi..[+] An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the WDR60 gene on chromosome 7q36. [-]
short-rib thoracic dysplasia 11 with or without polydactyly	SRTD11	An asphyxiating thoracic dystrophy that has_materi..[+] An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34. [-]
short-rib thoracic dysplasia 14 with polydactyly	SRTD14	An asphyxiating thoracic dystrophy that has_materi..[+] An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the KIAA0586 gene on chromosome 14q23. [-]
short-rib thoracic dysplasia 9 with or without polydactyly	SRTD9; renal dysplasia, retinal pigmentary dystrop.. [+] SRTD9; renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia [-]	An asphyxiating thoracic dystrophy that has_materi..[+] An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. [-]
Stromme syndrome	apple peel syndrome with microcephaly and ocular a.. [+] apple peel syndrome with microcephaly and ocular anomalies; CILD31; jejunal atresia with microcephaly and ocular anomalies; lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome; primary ciliary dyskinesia 31 [-]	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. [-]
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. [-]
Scott syndrome	SCTS; BDPLT7; bleeding abnormality due to deficien.. [+] SCTS; BDPLT7; bleeding abnormality due to deficiency of platelet biding of factor X; familial prothrombin consumption inhibitor; familial prothrombin conversion defect; platelet-type bleeding disorder 7; prothrombin consumption deficiency [-]	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. [-]
SADDAN	severe achondroplasia with developmental delay and.. [+] severe achondroplasia with developmental delay and acanthosis nigricans; SADDAN dysplasia [-]	An autosomal dominant disease characterized by sev..[+] An autosomal dominant disease characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16. [-]

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