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Disease	Synonyms	Description
SAPHO syndrome	Synovitis, acne, pustulosis palmaris, hyperostosis.. [+] Synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome; [-]	n_a
SC phocomelia syndrome	Hypomelia Hypotrichosis Facial hemangioma syndrome.. [+] Hypomelia Hypotrichosis Facial hemangioma syndrome; SC PSEUDOTHALIDOMIDE SYNDROME; [-]	n_a
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. [-]
SM-AHNMD	systemic mastocytosis with associated clonal haema.. [+] systemic mastocytosis with associated clonal haematological non-mast cell lineage disease; systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease (morphologic abnormality); systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease; [-]	n_a
SOST-related sclerosing bone dysplasia	van Buchem disease;	A hyperostosis that has_material_basis_in a mutati..[+] A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull. [-]
SPOAN syndrome	spastic paraplegia, optic atropy, and neuropathy; .. [+] spastic paraplegia, optic atropy, and neuropathy; spastic paraplegia, optic atropy, and neuropathy syndrome; [-]	A neurodegenerative disease characterized by spast..[+] A neurodegenerative disease characterized by spastic paraplegia, axonal neuropathy, dysarthria, acoustic startle, and congenital optical atrophy. It has material basis in homozygous mutation in the KLC2 gene on chromosome 11q13.2. [-]
Saethre-Chotzen syndrome	acrocephalosyndactyly type III;	An acrocephalosyndactylia that has_material_basis_..[+] An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull. [-]
Sakati-Nyhan syndrome	ACPS with leg hypoplasia; acrocephalopolysyndactyl.. [+] ACPS with leg hypoplasia; acrocephalopolysyndactyly type 3; acrocephalopolysyndactyly Type III; Sakati-Nyhan-Tisdale syndrome; Sakati syndrome; [-]	An acrocephalosyndactylia characterized by abnorma..[+] An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections. [-]
Saldino-Noonan syndrome	type I short rib polydactyly syndrome;	n_a
Sandhoff disease	Sandhoff Jatzkewitz disease;	n_a
Scheie syndrome	mucopolysaccharidosis type 1S; mucopolysaccharidos.. [+] mucopolysaccharidosis type 1S; mucopolysaccharidosis type IS; mucopolysaccharidosis type V; [-]	A mucopolysaccharidosis characterized by corneal c..[+] A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan. [-]
Scheuermann's disease	Juvenile osteochondritis of the spine; Juvenile os.. [+] Juvenile osteochondritis of the spine; Juvenile osteochondrosis of Scheurermann; Juvenile osteochondrosis of spine; Scheuermann disease; Scheuermann's kyphosis; Sherman's Disease; [-]	An osteochondrosis that results_in abnormal bone g..[+] An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column. [-]
Schimke immuno-osseous dysplasia	immunoosseous dysplasia Schimke type; Schimke immu.. [+] immunoosseous dysplasia Schimke type; Schimke immunoosseous dysplasia; Schimke syndrome; spondyloepiphyseal dysplasia - nephrotic syndrome; [-]	A spondyloepiphyseal dysplasia characterized by sh..[+] A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene. [-]
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. [-]
Schinzel type phocomelia	AARRS; absence of ulna and fibula with severe limb.. [+] 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; Schinzel phocomelia syndrome; severe limb deficit; [-]	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. [-]
Schmid metaphyseal chondrodysplasia	Japanese type spondylometaphyseal dysplasia; Schmi.. [+] Japanese type spondylometaphyseal dysplasia; Schmid type metaphyseal dysplasia ; [-]	A metaphyseal dysplasia that results_in dwarfism a..[+] A metaphyseal dysplasia that results_in dwarfism and bowed legs. [-]
Schneiderian carcinoma	Cylindrical cell carcinoma;	n_a
Schnitzler syndrome	Schnitzler syndrome (disorder);	n_a
Schnyder corneal dystrophy	corneal dystrophy crystalline of Schnyder; crystal.. [+] corneal dystrophy crystalline of Schnyder; crystalline stromal dystrophy; hereditary crystalline stromal dystrophy of Schnyder; SCCD; Schnyder crystalline corneal dystrophy; [-]	n_a
Schuurs-Hoeijmakers Syndrome	autosomal dominant mental retardation 17; MRD17; S.. [+] autosomal dominant mental retardation 17; MRD17; SHMS; [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PACS1 gene on chromosome 11q13.1-q13.2. [-]
Schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma		n_a
Schwartz-Jampel syndrome 1	Aberfeld syndrome; Burton skeletal dysplasia; Burt.. [+] Aberfeld syndrome; Burton skeletal dysplasia; Burton syndrome; Catel-Hempel syndrome; Catel-Hempel type dysostosis enchondralis metaepiphysaria; myotonic chondrodystrophy; myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; osteochondromuscular dystrophy; Schwartz-Jampel syndrome type 1; Schwartz-Jampel-Aberfeld syndrome; [-]	An autosomal recessive disease characterized by ne..[+] An autosomal recessive disease characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36. [-]
Scott syndrome	BDPLT7; bleeding abnormality due to deficiency of .. [+] BDPLT7; bleeding abnormality due to deficiency of platelet biding of factor X; familial prothrombin consumption inhibitor; familial prothrombin conversion defect; platelet-type bleeding disorder 7; prothrombin consumption deficiency; SCTS; [-]	A blood coagulation disease characterized by autos..[+] A blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has_material_basis_in homozygous mutation in the TMEM16F gene on chromosome 12q12. [-]
Seckel syndrome	bird-headed dwarfism; Harper's syndrome; microceph.. [+] bird-headed dwarfism; Harper's syndrome; microcephalic primordial dwarfism; Virchow-Seckel dwarfism; [-]	An autosomal recessive disease characterized by in..[+] An autosomal recessive disease characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability. [-]
Seckel syndrome 1	microcephalic primordial dwarfism I; SCKL1;	A Seckel syndrome that has_material_basis_in homoz..[+] A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q23. [-]
Seckel syndrome 10	SCKL10;	A Seckel syndrome that has_material_basis_in compo..[+] A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NSMCE2 gene on chromosome 8q24. [-]
Seckel syndrome 2	microcephalic primordial dwarfism 2; SCKL2; Seckel.. [+] microcephalic primordial dwarfism 2; SCKL2; Seckel-type dwarfism 2; [-]	A Seckel syndrome that has_material_basis_in homoz..[+] A Seckel syndrome that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11. [-]
Seckel syndrome 4	SCKL4;	A Seckel syndrome that has_material_basis_in homoz..[+] A Seckel syndrome that has_material_basis_in homozygous mutation in the CENPJ gene on chromosome 13q12. [-]
Seckel syndrome 5	SCKL5;	A Seckel syndrome that has_material_basis_in homoz..[+] A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21. [-]
Seckel syndrome 6	SCKL6;	A Seckel syndrome that has_material_basis_in homoz..[+] A Seckel syndrome that has_material_basis_in homozygous mutation in the CEP63 gene on chromosome 3q22. [-]
Seckel syndrome 7	SCKL7;	A Seckel syndrome that has_material_basis_in compo..[+] A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NIN gene on chromosome 14q22. [-]
Seckel syndrome 8	SCKL8;	A Seckel syndrome that has_material_basis_in homoz..[+] A Seckel syndrome that has_material_basis_in homozygous mutation in the DNA2 gene on chromosome 10q21. [-]
Seckel syndrome 9	SCKL9;	A Seckel syndrome that has_material_basis_in homoz..[+] A Seckel syndrome that has_material_basis_in homozygous mutation in the TRAIP gene on chromosome 3p21. [-]
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..[+] A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. [-]
Sensenbrenner syndrome	cranioectodermal dysplasia; Levin syndrome;	n_a
Sertoli cell tumor	tubular androblastoma NOS (morphologic abnormality.. [+] tubular androblastoma NOS (morphologic abnormality); tubular androblastoma; [-]	A sex cord-gonadal stromal tumor characterized by ..[+] A sex cord-gonadal stromal tumor characterized by excessive proliferation of Sertoli cells. [-]
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.. [+] pancreatic insufficiency and bone marrow dysfunction; Shwachman syndrome; Shwachman-Bodian-Diamond syndrome; [-]	A syndrome characterized by exocrine pancreatic in..[+] A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. [-]
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.. [+] manchurian typhus; North Asian tick fever; North Asian tick fever (disorder) [Ambiguous]; North Asian tick fever NOS (disorder); North Asian tick typhus (disorder); Rickettsia sibirica spotted fever; Siberian tick typhus (disorder); North Asian tick typhus; [-]	A spotted fever that has_material_basis_in Rickett..[+] A spotted fever that has_material_basis_in Rickettsia sibirica, which is transmitted_by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash. [-]
Siddiqi syndrome		A lipid storage disease that is characterized by g..[+] A lipid storage disease that is characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index and that has_material_basis_in homozygous or compound heterozygous mutation in the FITM2 gene on chromosome 20q13. [-]
Silo filler's disease	silo filler disease; Silo-fillers' disease;	A lung disease that is characterized by inhalation..[+] A lung disease that is characterized by inhalation of nitrogen oxides from exposure to silage gas in recently filled silos resulting in sudden death, pulmonary edema, and/or bronchiolitis obliterans. [-]
Silver-Russell syndrome	Silver Russell Dwarfism;	n_a
Silverman-Handmaker type dyssegmental dysplasia		An osteochondrodysplasia characterized by short-li..[+] An osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has_material_basis_in homozygous or compound heterozygous mutation in the HSPG2 gene on chromosome 1p36. [-]

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