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Disease	Synonyms	Description	Articles
spondyloepiphyseal dysplasia Kimberley type	SEDK	A spondyloepiphyseal dysplasia that has_material_b..[+] A spondyloepiphyseal dysplasia that has_material_basis_in heterozygous mutation in the ACAN gene on chromosome 15q26.1. [-]
spondyloepiphyseal dysplasia Kondo-Fu type	SEDKF; SED with elevated blood lysosomal enzymes	A spondyloepiphyseal dysplasia that has_material_b..[+] A spondyloepiphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the MBTPS1 gene on chromosome 16q23.3-q24.1. [-]
spondyloepiphyseal dysplasia tarda		A spondyloepiphyseal dysplasia characterized by im..[+] A spondyloepiphyseal dysplasia characterized by impaired growth of the bones of the spine and the ends of the long bones that becomes apparent in after birth. [-]
spondyloepiphyseal dysplasia with punctate corneal dystrophy		A spondyloepiphyseal dysplasia characterized by sp..[+] A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia and punctate dystrophy of the full depth of the corneal stroma. [-]
spondyloepiphyseal dysplasia-brachydactyly and distinctive speech	spondyloepiphyseal dysplasia, Cantu type; SED-BDS; .. [+] SED-BDS; spondyloepiphyseal dysplasia, Cantu type; SED-brachydactyly and distinctive speech; Fantasy Island syndrome; Tattoo dysplasia [-]	A spondyloepiphyseal dysplasia characterized by sp..[+] A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, brachydactyly, and distinctive speech. [-]
spondyloepiphyseal dysplasia Nishimura type	SEDN	A spondyloepiphyseal dysplasia characterized by di..[+] A spondyloepiphyseal dysplasia characterized by disproportionate short stature with short limbs, small hands and feet, midface hypoplasia with a small nose, mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone-shaped phalangeal epiphyses that has_material_basis_in heterozygous gain-of-function mutation in the MIR140 gene on chromosome 16q22.1. [-]
spondyloepiphyseal dysplasia tarda with characteristic facies		A spondyloepiphyseal dysplasia tarda characterized..[+] A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of skeletal dysplasia, microcephaly, unusual facies, and moderate developmental delay. [-]
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis	SHILCA syndrome	A syndrome characterized by early-onset retinal de..[+] A syndrome characterized by early-onset retinal degeneration, sensorineural hearing loss, short stature, vertebral anomalies, epiphyseal dysplasia, and motor and intellectual delay that has_material_basis_in homozygous or compound heterozygous mutation in NMNAT1 on chromosome 1p36.22. [-]
spondyloepiphyseal dysplasia tarda with intellectual disability		A spondyloepiphyseal dysplasia tarda characterized..[+] A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of spondyloepiphyseal dysplasia associated with mild to moderate intellectual disability. [-]
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability		A syndrome characterized by spondyloepiphyseal dys..[+] A syndrome characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate, and intellectual disability. [-]
spondylometaphyseal dysplasia		An osteochondrodysplasia characterized by platyspo..[+] An osteochondrodysplasia characterized by platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. [-]
spondylometaphyseal dysplasia Algerian type	spondylometaphyseal dysplasia, Schmidt type; spond.. [+] spondylometaphyseal dysplasia, Schmidt type; spondylometaphyseal dysplasia with severe genu valgum [-]	A spondylometaphyseal dysplasia characterized by d..[+] A spondylometaphyseal dysplasia characterized by dwarfism, genu valgum deformity, progressive kypho-scoliosis, wrist deformity, myopia and severe metaphyseal dysplasia, with moderate spinal changes and minimal changes in the hands and feet. [-]
spondylometaphyseal dysplasia corner fracture type	spondylometaphyseal dysplasia Sutcliffe type; SMDC.. [+] spondylometaphyseal dysplasia Sutcliffe type; SMDCF [-]	A spondylometaphyseal dysplasia characterized by f..[+] A spondylometaphyseal dysplasia characterized by flake-like, triangular, or curvilinear ossification centers at the edges of irregular metaphyses that simulate fractures that has_material_basis_in heterozygous mutation in FN1 on chromosome 2q35. [-]
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 with cone-rod dystrophy	spondylometaphyseal dysplasia-cone-rod dystrophy s.. [+] spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMDCRD; SMD-CRD [-]	A spondylometaphyseal dysplasia characterized by p..[+] A spondylometaphyseal dysplasia characterized by postnatal growth deficiency, profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT1A gene on chromosome 3q29. [-]
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 East African type		A spondylometaphyseal dysplasia characterized by o..[+] A spondylometaphyseal dysplasia characterized by oval vertebral bodies with wide, bracket-shaped metaphyses and small, round epiphyses without anterior tonguing of the vertebral bodies. [-]
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. [-]
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type	SMDMDM; Megarbane-Dagher-Melike type chondrodyspla.. [+] SMDMDM; Megarbane-Dagher-Melike type chondrodysplasia [-]	A spondylometaphyseal dysplasia that has_material_..[+] A spondylometaphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the PAM16 gene on chromosome 16p13.3. [-]
spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism	spondylometaphyseal dysplasia-bowed forearms-facia.. [+] spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome; SMD with bowed forearms and facial dysmorphism [-]	A spondylometaphyseal dysplasia characterized by s..[+] A spondylometaphyseal dysplasia characterized by short stature, hyperlordosis, bowed legs, shortening and bowing of the forearms, abnormal face, and radiographic changes characteristic of spondylometaphyseal dysplasia. [-]
sarcosinemia	SARD deficiency; SARDH deficiency; sarcosine dehyd.. [+] SARDH deficiency; SARD deficiency; sarcosine dehydrogenase complex deficiency; SARCOS; demethylation defect of N-methylglycine [-]	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by increased concentrations of sarcosine in plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in the SARDH gene on chromosome 9q34.2. [-]
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. [-]
spermatogenic failure 54	SPGF54	A spermatogenic failure characterized by male infe..[+] A spermatogenic failure characterized by male infertility due to oligoteratoasthenozoospermia, with markedly reduced sperm counts and severely reduced or absent sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the CATIP gene on chromosome 2q35. [-]
spermatogenic failure 56	SPGF56	A spermatogenic failure characterized by male infe..[+] A spermatogenic failure characterized by male infertility due to multiple morphologic abnormalities of the flagella with severely reduced sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH10 gene on chromosome 12q24.31. [-]
spermatogenic failure 55	SPGF55	A spermatogenic failure characterized by male infe..[+] A spermatogenic failure characterized by male infertility due to asthenozoospermia, with severely reduced sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the SPAG17 gene on chromosome 1p12. [-]
spermatogenic failure 57	SPGF57	A spermatogenic failure characterized by male infe..[+] A spermatogenic failure characterized by male infertility due to error-prone meiosis of germ cells and spermatogenic arrest at the late pachytene stage that has_material_basis_in homozygous or compound heterozygous mutation in the PNLDC1 gene on chromosome 6q25.3. [-]
spermatogenic failure 61	SPGF61	A spermatogenic failure that is characterized by m..[+] A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia with complete meiotic arrest at the primary spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the STAG3 gene on chromosome 7q22.1. [-]
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 58	SPGF58	A spermatogenic failure characterized by multiple ..[+] A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella and immotile or severely reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the IFT74 gene on chromosome 9p21.2. [-]
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. [-]
spermatogenic failure 65	SPGF65	A spermatogenic failure characterized by male infe..[+] A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with severely reduced or absent progressive sperm motillity and multiple morphologic abnormalities of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in the DHND1 gene on chromosome 11p15.4. [-]
spermatogenic failure 60	SPGF 60	A spermatogenic failure that is characterized by m..[+] A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TERB1 gene on chromosome 16q22.1. [-]
spermatogenic failure 63	SPGF63	A spermatogenic failure characterized by male infe..[+] A spermatogenic failure characterized by male infertility due to severe oligozoospermia with markedly reduced progressive sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the RPL10L gene on chromosome 14q21.2. [-]
spermatogenic failure 59	SPGF59	A spermatogenic failure that is characterized by m..[+] A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TERB2 gene on chromosome 15q21.1. [-]
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 6	SCDO6; autosomal recessive spondylocostal dysostos.. [+] SCDO6; autosomal recessive spondylocostal dysostosis 6 [-]	A spondylocostal dysostosis that has_material_basi..[+] A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the RIPPLY2 gene on chromosome 6q14.2. [-]
spondylocostal dysostosis 3	SCDO3; autosomal recessive spondylocostal dysostos.. [+] SCDO3; autosomal recessive spondylocostal dysostosis 3 [-]	A spondylocostal dysostosis that has_material_basi..[+] A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the LFNG gene on chromosome 7p22.3. [-]
spondylocostal dysostosis 2	SCDO2; autosomal recessive spondylocostal dysostos.. [+] SCDO2; autosomal recessive spondylocostal dysostosis 2 [-]	A spondylocostal dysostosis that has_material_basi..[+] A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the MESP2 gene on chromosome 15q26.1. [-]
spondylocostal dysostosis 5	SCDO5	A spondylocostal dysostosis that has_material_basi..[+] A spondylocostal dysostosis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TBX6 gene on chromosome 16p11.2. [-]
spondylocostal dysostosis 4	SCDO4; autosomal recessive spondylocostal dysostos.. [+] SCDO4; autosomal recessive spondylocostal dysostosis 4 [-]	A spondylocostal dysostosis that has_material_basi..[+] A spondylocostal dysostosis that has_material_basis_in heterozygous or compound homozygous mutation in the HES7 gene on chromosome 17p13.1. [-]
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; os.. [+] swimmer's exostosis; bone spur; bony outgrowth; osteophyte; orbital exostosis [-]	A hyperostosis that involves formation of new bone..[+] A hyperostosis that involves formation of new bone on the surface of preexisting bone. [-]	1 articles
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; Angiokeratoma; Angiokeratoma of skin [-]	n_a
nephrolithiasis	Stone - kidney/ureter; calculus of kidney and uret.. [+] Stone - kidney/ureter; calculus of kidney and ureter; NEPHROLITHIASIS, CALCIUM OXALATE; UROLITHIASIS, CALCIUM OXALATE; kidney stones [-]	A kidney disease characterized by the formation of..[+] A kidney disease characterized by the formation of stoney concentrations in the kidneys. [-]	5 articles
prion disease	Spongiform Encephalopathy; Prion disease pathway; .. [+] Spongiform Encephalopathy; Prion disease pathway; prion induced disorder; transmissible spongiform encephalopathy; Prion protein disease [-]	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. [-]

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