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Disease	Synonyms	Description
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. [-]
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. [-]
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. [-]
supratentorial ependymoma, YAP1 fusion–positive		A supratentorial ependymoma that is characterized ..[+] A supratentorial ependymoma that is characterized by the presence of a fusion gene involving YAP1 gene. [-]
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. [-]
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. [-]
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. [-]
spindle cell oncocytoma		A posterior pituitary benign neoplasm that is char..[+] A posterior pituitary benign neoplasm that is characterized by the presence of spindle cells with eosinophilic, granular cytoplasm forming fascicles. [-]
spinal muscular atrophy, Jokela type		A spinal muscular atrophy that is characterized by..[+] A spinal muscular atrophy that is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11. [-]
spastic quadriplegic cerebral palsy 2		A spastic quadriplegic cerebral palsy that has_mat..[+] A spastic quadriplegic cerebral palsy that has_material_basis_in deletion of the ANKRD15 gene (KANK1) inherited on the paternal allele. [-]
spastic quadriplegic cerebral palsy 3	CPSQ3	A spastic quadriplegic cerebral palsy that has_mat..[+] A spastic quadriplegic cerebral palsy that has_material_basis_in homozygous mutation in the ADD3 gene on chromosome 10q24. [-]
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. [-]
semantic dementia	semantic variant PPA; semantic variant of primary .. [+] semantic variant PPA; semantic variant of primary progressive aphasia [-]	A primary progressive aphasia that is characterize..[+] A primary progressive aphasia that is characterized by the progressive, amodal and profound loss of semantic knowledge and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes. [-]
sarcoma with BCOR genetic alterations	BCOR-Rearranged Sarcoma	A small cell sarcoma that is characterized by the ..[+] A small cell sarcoma that is characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm and the presence of BCOR genetic alterations. [-]
Schwartz-Jampel syndrome 1	Schwartz-Jampel syndrome type 1; Schwartz-Jampel-A.. [+] Schwartz-Jampel syndrome type 1; Schwartz-Jampel-Aberfeld syndrome; Aberfeld syndrome; Burton syndrome; Catel-Hempel syndrome; Catel-Hempel type dysostosis enchondralis metaepiphysaria; myotonic chondrodystrophy; myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton skeletal dysplasia; osteochondromuscular dystrophy [-]	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. [-]
severe combined immunodeficiency with sensitivity to ionizing radiation	Severe combined immunodeficiency, Athabaskan type; .. [+] Severe combined immunodeficiency, Athabaskan type; SCID due to DCLRE1C deficiency; 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 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; autosomal recessive T cell-negative, B-cell positive, 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 gene 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 autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding perlecan (HSPG2) 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 with axonal neuropathy 1	spinocerebellar ataxia with axonal neuropathy type.. [+] spinocerebellar ataxia with axonal neuropathy type 1; SCAN1; autosomal recessive spinocerebellar ataxia with axonal neuropathy; autosomal recessive spinocerebellar ataxia with axonal neuropathy 1 [-]	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	SRTD6; SRPS2A; short rib-polydactyly syndrome type.. [+] SRPS2A; SRTD6; 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	SRTD8; short rib-polydactyly syndrome type VI; SRP.. [+] short rib-polydactyly syndrome type VI; SRTD8; SRPS6 [-]	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	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. [-]
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; familial prothrombin consumption inhibitor; .. [+] SCTS; familial prothrombin consumption inhibitor; platelet-type bleeding disorder 7; prothrombin consumption deficiency; 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. [-]
spermatogenic failure 9	male infertility due to globozoospermia; globozoos.. [+] male infertility due to globozoospermia; globozoospermia; male infertility due to round-headed spermatozoa [-]	A male infertility characterized by round-headed s..[+] A male infertility characterized by round-headed spermatozoa lacking an acrosome and that has_material_basis_in autosomal recessive inheritance in a mutation in the DPY19L2 gene on chromosome 12q14. [-]
SADDAN	SADDAN dysplasia; severe achondroplasia with devel.. [+] SADDAN dysplasia; severe achondroplasia with developmental delay and acanthosis nigricans [-]	A syndrome characterized by severe achondroplasia,..[+] A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16. [-]
sepiapterin reductase deficiency	SPR deficiency; SRD; DRD due to SRD; dopa-responsi.. [+] SRD; SPR deficiency; DRD due to SRD; dopa-responsive dystonia due to sepiapterin reductase deficiency [-]	A dystonia characterized by sustained muscle contr..[+] A dystonia characterized by sustained muscle contractions with diurnal fluctuations, axial hypotonia, oculogyric crises, delays in motor and cognitive development and severe dopamine and serotonin deficiencies that has_material_basis_in mutation in the SPR gene on chromosome 2p resulting in sepiapterin reductase deficiency. [-]
subcortical band heterotopia	subcortical laminar heterotopia; band heterotopia; .. [+] subcortical laminar heterotopia; band heterotopia; double cortex syndrome; HeCo; heterotopic cortex [-]	A congenital nervous system abnormality characteri..[+] A congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex. [-]
Sveinsson chorioretinal atrophy	SCRA; atrophia areata; helicoid peripapillary chor.. [+] SCRA; atrophia areata; helicoid peripapillary chorioretinal degeneration; HPCD; 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. [-]
speech-language disorder-1	speech-language disorder type 1; speech and langua.. [+] speech-language disorder type 1; speech and language disorder with orofacial dyspraxia; childhood apraxia of speech; developmental apraxia of speech; developmental verbal dyspraxia; articulatory apraxia; CAS [-]	A speech disorder characterized by severe orofacia..[+] A speech disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech that has_material_basis_in heterozygous mutation in FOXP2 on 7q31.1. [-]

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