Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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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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Sertoli-Leydig cell tumor |
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A sex cord-gonadal stromal tumor characterized by ..[+]
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Sezary's disease |
Sezary disease; Sezary syndrome;
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n_a
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Sheehan syndrome |
Postpartum Hypopituitarism; Sheehan's syndrome;
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n_a
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Shukla-Vernon syndrome |
SHUVER;
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A syndrome characterized by global developmental d..[+]
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Shwachman-Diamond syndrome |
pancreatic insufficiency and bone marrow dysfuncti..
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A syndrome characterized by exocrine pancreatic in..[+]
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1 articles | |
Shwartzman phenomenon |
Shwartzman reaction (function); Shwartzman reactio..
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n_a
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Siberian tick typhus |
North Asian tick fever; North Asian tick fever (di..
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A spotted fever that has_material_basis_in Rickett..[+]
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Siddiqi syndrome |
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A lipid storage disease that is characterized by g..[+]
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Sifrim-Hitz-Weiss syndrome |
CHD4 Neurodevelopmental Disorder; CHD4-related neu..
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An autosomal dominant intellectual developmental d..[+]
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Silo filler's disease |
silo filler disease; Silo-fillers' disease;
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A lung disease that is characterized by inhalation..[+]
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Silver-Russell syndrome |
Silver Russell Dwarfism;
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A physical disorder that is characterized by sever..[+]
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Silverman-Handmaker type dyssegmental dysplasia |
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An osteochondrodysplasia characterized by short-li..[+]
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Simpson-Golabi-Behmel syndrome type 1 |
DGSX Golabi-Rosen syndrome; Sara Angers syndrome; ..
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A syndrome characterized by pre- and postnatal ove..[+]
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