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Disease	Synonyms	Description
sepiapterin reductase deficiency	SPR deficiency; SRD; dopa-responsive dystonia due .. [+] SRD; SPR deficiency; dopa-responsive dystonia due to sepiapterin reductase deficiency; DRD due to SRD [-]	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. [-]
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	SANDO; autosomal recessive sensory ataxic neuropat.. [+] SANDO; autosomal recessive sensory ataxic neuropathy with mitochondrial DNA deletions [-]	A mitochondrial metabolism disease characterized b..[+] A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation in POLG on 15q26.1. [-]
spondyloepiphyseal dysplasia Maroteaux type	spondyloepiphyseal dysplasia of Maroteaux; SED, Ma.. [+] spondyloepiphyseal dysplasia of Maroteaux; SED, Maroteaux type; Brachyolmia Type 2; Pseudo-Morquio syndrome type 2 [-]	An osteochondrodysplasia characterized by dysplast..[+] An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. [-]
spondylometaphyseal dysplasia Kozlowski type	SMD Kozlowski type; skeletal dysplasia Jequier-Koz.. [+] SMD Kozlowski type; skeletal dysplasia Jequier-Kozlowski type; dysmorphism arthrogryposis skeletal maturation advanced; Jequier Kozlowski skeletal dysplasia; Jequier-Kozlowski syndrome [-]	A spondylometaphyseal dysplasia characterized by v..[+] A spondylometaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. [-]
syndromic microphthalmia 1	syndromic microphthalmia 4; Lenz dysplasia; Lenz m.. [+] syndromic microphthalmia 4; Lenz dysplasia; Lenz microphthalmia; Lenz type microphthalmia; MCOPS1 [-]	A syndromic microphthalmia characterized by unilat..[+] A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in the NAA10 gene on chromosome Xq28. [-]
syndromic microphthalmia 14	colobomatous microphthalmia-rhizomelic dysplasia s.. [+] colobomatous microphthalmia-rhizomelic dysplasia syndrome; MCOPS14; MCSKS; microphthalmia and/or coloboma with or without rhizomelic skeletal dysplasia; microphthalmia/coloboma and skeletal dysplasia syndrome [-]	A syndromic microphthalmia characterized by microp..[+] A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that has_material_basis_in heterozygous or homozygous mutation in the MAB21L2 gene on chromosome 4q31.3. [-]
syndromic microphthalmia 5	syndromic microphthalmia/anophthalmia due to OTX2 .. [+] syndromic microphthalmia/anophthalmia due to OTX2 mutation; syndromic microphthalmia type 5; MCOPS5 [-]	A syndromic microphthalmia characterized by unilat..[+] A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q22.3. [-]
syndromic microphthalmia 2	syndromic microphthalmia type 2; ANOP2; cataract-m.. [+] syndromic microphthalmia type 2; ANOP2; cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome; MAA2; MCOPS2; microphthalmia cataracts radiculomegaly and septal heart defects; oculofaciocardiodental syndrome; OFCD syndrome [-]	A syndromic microphthalmia characterized by dental..[+] A syndromic microphthalmia characterized by dental radiculomegaly, congenital cataract, microphthalmia, facial dismorphism and congenital heart disease that has_material_basis_in heterozygous mutation in the BCOR gene on chromosome Xp11.4. [-]
syndactyly type 1	syndactyly, type 1, with or without craniosynostos.. [+] syndactyly, type 1, with or without craniosynostosis; SDTY1; chromosome 2q35 duplication syndrome [-]	A syndactyly characterized by complete or partial ..[+] A syndactyly characterized by complete or partial webbing between the third and fourth fingers and/or the second and third toes that has_material_basis_in heterozygous duplication of a region of chromosome 2q34-q36. [-]
syndactyly type 3	syndactyly, type III; syndactyly of fingers 4 and .. [+] syndactyly, type III; syndactyly of fingers 4 and 5; SDTY3; ringand little finger syndactyly [-]	A syndactyly characterized by complete and bilater..[+] A syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers that has_material_basis_in heterozygous mutation in the GJA1 gene on chromosome 6q22.31. [-]
spermatogenic failure 33	SPGF33	A spermatogenic failure characterized by multiple ..[+] A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the WDR66 gene on chromosome 12q24.31. [-]
spermatogenic failure 43	SPGF43	A spermatogenic failure characterized by multiple ..[+] A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in absence of forward motility in spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the SPEF2 gene on chromosome 5p13.2. [-]
spermatogenic failure 31	SPGF31	A male failure due to acephalic spermatozoa that i..[+] A male failure due to acephalic spermatozoa that is characterized by oligozoospermia with a high proportion of acephalic sperm that has_material_basis_in homozygous or compound heterozygous mutation in the PMFBP1 gene on chromosome 16q22.2. [-]
spermatogenic failure 39	SPGF39	A spermatogenic failure characterized by multiple ..[+] A spermatogenic failure characterized by multiple morphologic anomalies of the sperm flagellum, lack of the outer dynein arms in the flagella, and asthenozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH17 gene on chromosome 17q25.3. [-]
spermatogenic failure 24	SPGF24	A spermatogenic failure characterized by multiple ..[+] A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, malformed sperm heads, and very low sperm counts that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP69 gene on chromosome 7q21.13. [-]
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. [-]
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. [-]
severe congenital neutropenia 2	SCN2	An autosomal dominant severe congenital neutropeni..[+] An autosomal dominant severe congenital neutropenia that has_material_basis_in heterozygous mutation in the GFI1 gene on chromosome 1p22.1. [-]
severe congenital neutropenia 3	SCN3; infantile agranulocytosis; Kostmann disease; .. [+] SCN3; infantile agranulocytosis; Kostmann disease; Kostmann syndrome [-]	A severe congenital neutropenia characterized by b..[+] A severe congenital neutropenia characterized by bone marrow failure resulting in low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia that has_material_basis_in homozygous or compound heterozygous mutation in the HAX1 gene on chromosome 1q21.3. [-]
spermatogenic failure 47	SPGF47	A spermatogenic failure characterized by asthenote..[+] A spermatogenic failure characterized by asthenoteratospermia,reduced sperm concentrations, and immotile spermatozoa with short or absent flagella as well as centriolar abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the DZIP1 gene on chromosome 13q32.1. [-]
Schinzel type phocomelia	Schinzel phocomelia syndrome; severe limb deficit; .. [+] severe limb deficit; Schinzel phocomelia syndrome; 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 [-]	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. [-]
spondyloperipheral dysplasia	spondyloperipheral dysplasia-short ulna syndrome	An osteochondrodysplasia characterized by platyspo..[+] An osteochondrodysplasia characterized by platyspondyly, brachydactyly type E changes, bilateral short ulnae, and mild short stature that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. [-]
spondyloepimetaphyseal dysplasia with joint laxity	SEMDJL	A spondyloepimetaphyseal dysplasia characterized b..[+] A spondyloepimetaphyseal dysplasia characterized by spinal abnormalities and gross articular hypermobility. [-]
spermatogenic failure 49	SPGF98	A spermatogenic failure characterized by multiple ..[+] A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella resulting in markedly reduced or no progressive motility that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP58 gene on chromosome 10q25.1. [-]
spermatogenic failure 51	SPGF51	A spermatogenic failure characterized by severe as..[+] A spermatogenic failure characterized by severe asthenoteratozoospermia with multiple morphologic abnormalities of the flagella resulting in reduced to absent motility that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP91 gene on chromosome 3q13.33. [-]
spondyloepiphyseal dysplasia-brachydactyly and distinctive speech	spondyloepiphyseal dysplasia, Cantu type; SED-brac.. [+] spondyloepiphyseal dysplasia, Cantu type; SED-brachydactyly and distinctive speech; SED-BDS; Fantasy Island syndrome; Tattoo dysplasia [-]	A spondyloepiphyseal dysplasia characterized by sp..[+] A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, brachydactyly, and distinctive speech. [-]
spondylometaphyseal dysplasia Sedaghatian type	Sedaghatian chondrodysplasia; SMDS; congenital let.. [+] SMDS; Sedaghatian chondrodysplasia; congenital lethal metaphyseal chondrodysplasia [-]	A spondylometaphyseal dysplasia characterized by n..[+] A spondylometaphyseal dysplasia characterized by neonatal lethality, severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, pulmonary hemorrhage, severe hypotonia and cardiorespiratory problems that has_material_basis_in homozygous or compound heterozygous mutation in the GPX4 gene on chromosome 19p13.3. [-]
spondylometaphyseal dysplasia type A4		A spondylometaphyseal dysplasia characterized by s..[+] A spondylometaphyseal dysplasia characterized by severe metaphyseal changes of the femoral neck and ovoid, flattened vertebral bodies with anterior tongue-like deformities. [-]
spondylometaphyseal dysplasia with corneal dystrophy	SMDCD	A spondylometaphyseal dysplasia characterized by s..[+] A spondylometaphyseal dysplasia characterized by spondylometaphyseal dysplasia and corneal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB3 gene on chromosome 11q13.1. [-]
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. [-]
spermatogenic failure 62	SPGF62	A spermatogenic failure that is characterized by m..[+] A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia with complete metaphase arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the RNF212 gene on chromosome 4p16.3. [-]
spermatogenic failure 64	SPGF64	A spermatogenic failure characterized by male infe..[+] A spermatogenic failure characterized by male infertility due to oligoasthenoteratozoospermia or nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the FBXO43 gene on chromosome 8q22.2. [-]
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	SSFSC	A syndrome characterized by reduced growth, thin a..[+] A syndrome characterized by reduced growth, thin and short long bones, distinctive facial dysmorphism, dental and skeletal abnormalities, and absence of developmental delay or intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCUBE3 gene on chromosome 6p21.31. [-]
spondylocostal dysostosis 1	SCDO1; autosomal recessive spondylocostal dysostos.. [+] SCDO1; autosomal recessive spondylocostal dysostosis 1 [-]	A spondylocostal dysostosis that has_material_basi..[+] A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the DLL3 gene on chromosome 19q13.2. [-]
vaginal squamous papilloma	squamous papilloma of vagina	A vaginal benign neoplasm that is characterized by..[+] A vaginal benign neoplasm that is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium. [-]
exostosis	swimmer's exostosis; bone spur; bony outgrowth; or.. [+] swimmer's exostosis; bone spur; bony outgrowth; orbital exostosis; osteophyte [-]	A hyperostosis that involves formation of new bone..[+] A hyperostosis that involves formation of new bone on the surface of preexisting bone. [-]
enamel caries	simple dental cavity; Dental caries limited to ena.. [+] simple dental cavity; Dental caries limited to enamel; primary dental caries [-]	n_a
hemangioma of spleen	Splenic hemangioma; hemangioma of spleen (disorder.. [+] Splenic hemangioma; hemangioma of spleen (disorder) [-]	n_a
angiokeratoma	skin angiokeratoma; Angiokeratoma (morphologic abn.. [+] skin angiokeratoma; Angiokeratoma (morphologic abnormality); Angiokeratoma of skin (disorder); Cutaneous Angiokeratoma [-]	n_a
nephrolithiasis	Stone - kidney/ureter; calculus of kidney and uret.. [+] Stone - kidney/ureter; calculus of kidney and ureter; kidney stones; NEPHROLITHIASIS, CALCIUM OXALATE; UROLITHIASIS, CALCIUM OXALATE [-]	n_a
prion disease	Spongiform Encephalopathy; Prion disease pathway; .. [+] Spongiform Encephalopathy; Prion disease pathway; prion induced disorder; Prion protein disease; transmissible spongiform encephalopathy [-]	A brain disease that is characterized by brain dam..[+] A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins. [-]
juvenile rheumatoid arthritis	systemic juvenile rheumatoid arthritis; acute juve.. [+] systemic juvenile rheumatoid arthritis; acute juvenile rheumatoid arthritis; juvenile chronic polyarthritis; juvenile idiopathic arthritis; monarticular juvenile rheumatoid arthritis; pauciarticular juvenile arthritis; Pauciarticular onset juvenile chronic arthritis [-]	A rheumatoid arthritis that involves an autoimmune..[+] A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint. [-]
progressive supranuclear palsy	Steele-Richardson-Olszewski syndrome; progressive .. [+] Steele-Richardson-Olszewski syndrome; progressive supranuclear ophthalmoplegia [-]	A movement disease characterized by serious and pr..[+] A movement disease characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain. [-]
dentin sensitivity	Sensitive dentin	n_a
female stress incontinence	Stress incontinence - female; female urinary stres.. [+] Stress incontinence - female; female urinary stress incontinence [-]	n_a
cork-handlers' disease	Suberosis; cork-handlers' disease or lung; cork-ha.. [+] Suberosis; cork-handlers' disease or lung; cork-handlers' lung [-]	An extrinsic allergic alveolitis caused by inhalat..[+] An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia. [-]
fascioliasis	Sheep liver fluke infection; Fasciola hepatica inf.. [+] Sheep liver fluke infection; Fasciola hepatica infection (disorder); Infection by Fasciola (disorder); Liver flukes NOS; Liver flukes NOS (disorder); Fasciola hepatica infection; Infection by Fasciola; Liver flukes [-]	A parasitic helminthiasis infectious disease that ..[+] A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Fasciola hepatica or Fasciola gigantica. During the acute phase, manifestations include abdominal pain, hepatomegaly, fever, vomiting, diarrhea, urticaria and eosinophilia. Occasionally, infection occurs in intestinal wall, lungs, subcutaneous tissue, and pharyngeal mucosa. [-]
mitral valve prolapse	systolic click-murmur syndrome; Barlow's syndrome; .. [+] systolic click-murmur syndrome; Barlow's syndrome; floppy mitral valve; mitral leaflet syndrome; myxomatous mitral valve prolapse [-]	A mitral valve disease where one or both of the cu..[+] A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole. [-]

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