Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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SADDAN |
severe achondroplasia with developmental delay and..
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A syndrome characterized by severe achondroplasia,..[+]
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SAPHO syndrome |
Synovitis, acne, pustulosis palmaris, hyperostosis..
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A syndrome characterized by synovitis, acne, pustu..[+]
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SATB2-associated syndrome |
2q32-q33 microdeletion syndrome; 2q32q33 microdele..
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A syndrome that has_material_basis_in genetic chan..[+]
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SHORT syndrome |
Aarskog-Ose-Pande syndrome; Lipodystrophy-Rieger a..
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A syndrome of multiple anomalies whose name stands..[+]
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SHOX-related short stature |
idiopathic familial short stature;
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A bone development disease characterized by height..[+]
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SM-AHNMD |
systemic mastocytosis with associated clonal haema..
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n_a
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SMARCB1-deficient renal medullary carcinoma |
kidney medullary carcinoma; medullary carcinoma of..
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A renal cell carcinoma that develops in the renal ..[+]
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SOST-related sclerosing bone dysplasia |
van Buchem disease;
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A hyperostosis that has_material_basis_in a mutati..[+]
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SPOAN syndrome |
spastic paraplegia, optic atropy, and neuropathy; ..
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A neurodegenerative disease characterized by spast..[+]
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ST2 diffuse large B-cell lymphoma |
ST2 DLBCL;
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A diffuse large B-cell lymphoma that is categorize..[+]
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STING-associated vasculopathy with onset in infancy |
SAVI;
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An autoimmune disease of the cardiovascular system..[+]
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Sabinas brittle hair syndrome |
brittle hair-mental deficiency syndrome; trichothi..
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A nonphotosensitive trichothiodystrophy characteri..[+]
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Saethre-Chotzen syndrome |
acrocephalosyndactyly type III;
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An acrocephalosyndactylia that has_material_basis_..[+]
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Sakati-Nyhan syndrome |
ACPS with leg hypoplasia; acrocephalopolysyndactyl..
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An acrocephalosyndactylia characterized by abnorma..[+]
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Sandestig-Stefanova syndrome |
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A syndrome that is characterized by microcephaly, ..[+]
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Sandhoff disease |
Sandhoff Jatzkewitz disease;
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A GM2 gangliosidosis that is characterized by an a..[+]
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Saul-Wilson syndrome |
microcephalic osteodysplastic dysplasia, Saul-Wils..
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A bone development disease characterized by early ..[+]
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Schaaf-Yang syndrome |
MAGEL2-related Prader-Willi-like syndrome; MAGEL2-..
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A syndrome characterized by delayed psychomotor de..[+]
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Scheie syndrome |
mucopolysaccharidosis type 1S; mucopolysaccharidos..
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A mucopolysaccharidosis characterized by corneal c..[+]
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Scheuermann's disease |
Juvenile osteochondritis of the spine; Juvenile os..
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An osteochondrosis that results_in abnormal bone g..[+]
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Schimke immuno-osseous dysplasia |
immunoosseous dysplasia Schimke type; Schimke synd..
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A spondyloepiphyseal dysplasia characterized by sh..[+]
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Schindler disease |
alpha-N-acetylgalactosaminidase deficiency; NAGA d..
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A lysosomal storage disease that has_material_basi..[+]
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Schindler disease type 1 |
alpha-N-acetylgalactosaminidase deficiency type 1;..
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A Schindler disease characterized by infantile ons..[+]
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Schindler disease type 3 |
alpha-N-acetylgalactosaminidase deficiency type 3;..
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A Schindler disease characterized by mild to moder..[+]
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Schinzel Giedion syndrome |
Schinzel-Giedion midface retraction syndrome; SGS;..
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An ectodermal dysplasia characterized by distincti..[+]
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Schinzel type phocomelia |
AARRS; absence of ulna and fibula with severe limb..
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A syndrome characterized by severe malformations o..[+]
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Schmid metaphyseal chondrodysplasia |
Japanese type spondylometaphyseal dysplasia; Schmi..
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A metaphyseal dysplasia that results_in dwarfism a..[+]
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Schneiderian carcinoma |
Cylindrical cell carcinoma;
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n_a
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Schnitzler syndrome |
Schnitzler syndrome (disorder);
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A hypersensitivity reaction type IV disease that i..[+]
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Schnyder corneal dystrophy |
corneal dystrophy crystalline of Schnyder; crystal..
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A stromal dystrophy that is characterized by abnor..[+]
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Schopf-Schulz-Passarge syndrome |
keratosis palmoplantaris-cystic eyelids-hypodontia..
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An ectodermal dysplasia characterized by multiple ..[+]
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Schuurs-Hoeijmakers Syndrome |
autosomal dominant mental retardation 17; MRD17; S..
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An autosomal dominant intellectual developmental d..[+]
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Schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma |
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n_a
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Schwartz-Jampel syndrome 1 |
Aberfeld syndrome; Burton syndrome; Catel-Hempel s..
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A syndrome characterized by neuromyotonia and chon..[+]
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Scott syndrome |
familial prothrombin consumption inhibitor; platel..
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A blood coagulation disease characterized by autos..[+]
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Seckel syndrome |
Harper's syndrome; microcephalic primordial dwarfi..
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A syndrome characterized by intrauterine growth re..[+]
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2 articles | |
Seckel syndrome 1 |
microcephalic primordial dwarfism I; SCKL1;
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A Seckel syndrome that has_material_basis_in homoz..[+]
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1 articles | |
Seckel syndrome 10 |
SCKL10;
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A Seckel syndrome that has_material_basis_in compo..[+]
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Seckel syndrome 2 |
microcephalic primordial dwarfism 2; SCKL2; Seckel..
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A Seckel syndrome that has_material_basis_in homoz..[+]
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1 articles | |
Seckel syndrome 4 |
SCKL4;
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A Seckel syndrome that has_material_basis_in homoz..[+]
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Seckel syndrome 5 |
SCKL5;
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A Seckel syndrome that has_material_basis_in homoz..[+]
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Seckel syndrome 6 |
SCKL6;
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A Seckel syndrome that has_material_basis_in homoz..[+]
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Seckel syndrome 7 |
SCKL7;
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A Seckel syndrome that has_material_basis_in compo..[+]
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Seckel syndrome 8 |
SCKL8;
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A Seckel syndrome that has_material_basis_in homoz..[+]
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Seckel syndrome 9 |
SCKL9;
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A Seckel syndrome that has_material_basis_in homoz..[+]
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Sengers syndrome |
mitochondrial DNA depletion syndrome 10; mitochond..
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A mitochondrial DNA depletion syndrome that is cha..[+]
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Senile atrophy of choroid |
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n_a
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Senior-Loken syndrome |
renal-retinal syndrome; Loken Senior syndrome;
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A syndrome characterized by progressive wasting of..[+]
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1 articles | |
Sertoli cell tumor |
tubular androblastoma NOS (morphologic abnormality..
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A sex cord-gonadal stromal tumor characterized by ..[+]
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Sertoli cell-only syndrome |
DEL CASTILLO SYNDROME; Germinal Cell Aplasia;
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A male infertility disease characterized by male s..[+]
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