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Disease Synonyms Description Articles Phenotypes
SAPHO syndrome
Synovitis, acne, pustulosis palmaris, hyperostosis.. [+]
n_a
SC phocomelia syndrome
Hypomelia Hypotrichosis Facial hemangioma syndrome.. [+]
n_a
SHOX-related short stature
idiopathic familial short stature;
A bone development disease characterized by height..[+]
SM-AHNMD
systemic mastocytosis with associated clonal haema.. [+]
n_a
SOST-related sclerosing bone dysplasia
van Buchem disease;
A hyperostosis that has_material_basis_in a mutati..[+]
SPOAN syndrome
spastic paraplegia, optic atropy, and neuropathy; .. [+]
A neurodegenerative disease characterized by spast..[+]
Saethre-Chotzen syndrome
acrocephalosyndactyly type III;
An acrocephalosyndactylia that has_material_basis_..[+]
Sakati-Nyhan syndrome
ACPS with leg hypoplasia; acrocephalopolysyndactyl.. [+]
An acrocephalosyndactylia characterized by abnorma..[+]
Saldino-Noonan syndrome
type I short rib polydactyly syndrome;
n_a
Sandhoff disease
Sandhoff Jatzkewitz disease;
n_a
Scheie syndrome
mucopolysaccharidosis type 1S; mucopolysaccharidos.. [+]
A mucopolysaccharidosis characterized by corneal c..[+]
Scheuermann's disease
Juvenile osteochondritis of the spine; Juvenile os.. [+]
An osteochondrosis that results_in abnormal bone g..[+]
Schimke immuno-osseous dysplasia
immunoosseous dysplasia Schimke type; Schimke immu.. [+]
A spondyloepiphyseal dysplasia characterized by sh..[+]
Schindler disease type 3
alpha-N-acetylgalactosaminidase deficiency type 3;.. [+]
A Schindler disease characterized by mild to moder..[+]
Schinzel type phocomelia
AARRS; absence of ulna and fibula with severe limb.. [+]
A syndrome characterized by severe malformations o..[+]
Schmid metaphyseal chondrodysplasia
Japanese type spondylometaphyseal dysplasia; Schmi.. [+]
A metaphyseal dysplasia that results_in dwarfism a..[+]
Schneiderian carcinoma
Cylindrical cell carcinoma;
n_a
Schnitzler syndrome
Schnitzler syndrome (disorder);
n_a
Schnyder corneal dystrophy
corneal dystrophy crystalline of Schnyder; crystal.. [+]
n_a
Schuurs-Hoeijmakers Syndrome
autosomal dominant mental retardation 17; MRD17; S.. [+]
An autosomal dominant intellectual developmental d..[+]
Schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma
n_a
Schwartz-Jampel syndrome 1
Aberfeld syndrome; Burton skeletal dysplasia; Burt.. [+]
An autosomal recessive disease characterized by ne..[+]
Scott syndrome
BDPLT7; bleeding abnormality due to deficiency of .. [+]
A blood coagulation disease characterized by autos..[+]
Seckel syndrome
bird-headed dwarfism; Harper's syndrome; microceph.. [+]
An autosomal recessive disease characterized by in..[+]
Seckel syndrome 1
microcephalic primordial dwarfism I; SCKL1;
A Seckel syndrome that has_material_basis_in homoz..[+]
Seckel syndrome 10
SCKL10;
A Seckel syndrome that has_material_basis_in compo..[+]
Seckel syndrome 2
microcephalic primordial dwarfism 2; SCKL2; Seckel.. [+]
A Seckel syndrome that has_material_basis_in homoz..[+]
Seckel syndrome 4
SCKL4;
A Seckel syndrome that has_material_basis_in homoz..[+]
Seckel syndrome 5
SCKL5;
A Seckel syndrome that has_material_basis_in homoz..[+]
Seckel syndrome 6
SCKL6;
A Seckel syndrome that has_material_basis_in homoz..[+]
Seckel syndrome 7
SCKL7;
A Seckel syndrome that has_material_basis_in compo..[+]
Seckel syndrome 8
SCKL8;
A Seckel syndrome that has_material_basis_in homoz..[+]
Seckel syndrome 9
SCKL9;
A Seckel syndrome that has_material_basis_in homoz..[+]
Sengers syndrome
mitochondrial DNA depletion syndrome 10;
n_a
Senile atrophy of choroid
n_a
Senior-Loken syndrome
Loken Senior syndrome; renal-retinal syndrome;
A syndrome characterized by progressive wasting of..[+]
Sensenbrenner syndrome
cranioectodermal dysplasia; Levin syndrome;
n_a
Sertoli cell tumor
tubular androblastoma NOS (morphologic abnormality.. [+]
A sex cord-gonadal stromal tumor characterized by ..[+]
Sertoli cell-only syndrome
DEL CASTILLO SYNDROME; Germinal Cell Aplasia;
n_a
Sertoli-Leydig cell tumor
n_a
Sezary's disease
Sezary disease; Sezary syndrome;
n_a
Sheehan syndrome
Postpartum Hypopituitarism; Sheehan's syndrome;
n_a
Shwachman-Diamond syndrome
pancreatic insufficiency and bone marrow dysfuncti.. [+]
A syndrome characterized by exocrine pancreatic in..[+]
Shwachman-Diamond type metaphyseal dysplasia
n_a
Shwartzman phenomenon
Shwartzman reaction (function);
n_a
Siberian tick typhus
manchurian typhus; North Asian tick fever; North A.. [+]
A spotted fever that has_material_basis_in Rickett..[+]
Siddiqi syndrome
A lipid storage disease that is characterized by g..[+]
Silo filler's disease
silo filler disease; Silo-fillers' disease;
A lung disease that is characterized by inhalation..[+]
Silver-Russell syndrome
Silver Russell Dwarfism;
n_a
Silverman-Handmaker type dyssegmental dysplasia
An osteochondrodysplasia characterized by short-li..[+]

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