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Disease	Synonyms	Description
Simpson-Golabi-Behmel syndrome type 1	bulldog syndrome; DGSX Golabi-Rosen syndrome; Gola.. [+] bulldog syndrome; DGSX Golabi-Rosen syndrome; Golabi-Rosen syndrome; Sara Angers syndrome; SGB syndrome; Simpson dysmorphia syndrome; X-linked dysplasia gigantism syndrome; [-]	A syndrome characterized by pre- and postnatal ove..[+] A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 (GPC3) on chromosome Xq26. [-]
Sjogren's syndrome	Sicca syndrome; Sjogren syndrome; xerodermosteosis.. [+] Sicca syndrome; Sjogren syndrome; xerodermosteosis; [-]	An autoimmune disease that involves attack of immu..[+] An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva. [-]
Sjogren-Larsson syndrome	Sjogren Larsson syndrome; Sjogren-Larsson syndrome.. [+] Sjogren Larsson syndrome; Sjogren-Larsson syndrome (disorder); Sjogren-Larsson's syndrome; [-]	n_a
Skene gland carcinoma	carcinoma of the paraurethral gland; paraurethral .. [+] carcinoma of the paraurethral gland; paraurethral gland carcinoma; [-]	n_a
Sly syndrome	beta-glucuronidase deficiency; deficiency of beta-.. [+] beta-glucuronidase deficiency; deficiency of beta-glucuronidase; MPS VII - Sly syndrome; mucopolysaccharidosis VII; [-]	A mucopolysaccharidosis characterized by a deficie..[+] A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans. [-]
Smarca4-deficient sarcoma of thorax	SMARCA4-DTS;	A thoracic cancer that is characterized by poorly ..[+] A thoracic cancer that is characterized by poorly differentiated neoplasms with epithelioid/rhabdoid cells organized in a solid pattern and has_material_basis_in alterations in the switch/sucrose nonfermenting complex, also known in humans as BRG1-associated factors (BAF chromatin remodeling complex). [-]
Smith-Lemli-Opitz syndrome	Rutledge lethal multiple congenital anomaly syndro.. [+] Rutledge lethal multiple congenital anomaly syndrome; Smith-Opitz-Inborn syndrome; [-]	n_a
Smith-Magenis syndrome	17p11.2 microdeletion syndrome; chromosome 17p11.2.. [+] 17p11.2 microdeletion syndrome; chromosome 17p11.2 deletion syndrome; [-]	A chromosome deletion syndrome characterized by mi..[+] A chromosome deletion syndrome characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region. [-]
Smith-McCort dysplasia		A Syggve-Melchior-Clausen disease characterized by..[+] A Syggve-Melchior-Clausen disease characterized by short limbs and a short trunk with a barrel-shaped chest and has material basis in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q. [-]
Smith-McCort dysplasia 2		A Smith-McCort dysplasia that is characterized by ..[+] A Smith-McCort dysplasia that is characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening and that has_material_basis_in homozygous or compound heterozygous mutation in the RAB33B gene on chromosome 4q31. [-]
Sneddon syndrome	Idiopathic livedo reticularis with systemic involv.. [+] Idiopathic livedo reticularis with systemic involvement (disorder); [-]	n_a
Sorsby's fundus dystrophy	hemorrhagic macular dystrophy; pseudoinflammatory .. [+] hemorrhagic macular dystrophy; pseudoinflammatory fundus dystrophy of Sorsby; SFD; [-]	A hereditary retinal dystrophy characterized by au..[+] A hereditary retinal dystrophy characterized by autosomal dominant inheritance of loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life that has_material_basis_in heterozygous mutation in the TIMP3 gene on chromosome 22q12. [-]
Sotos syndrome	cerebral gigantism;	An autosomal recessive disease that occurs rarely ..[+] An autosomal recessive disease that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life. [-]
Sotos syndrome 3	SOTOS3;	A Sotos syndrome that has_material_basis_in homozy..[+] A Sotos syndrome that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13.3. [-]
St. Louis encephalitis	Neuroinvasive St. Louis encephalitis virus infecti.. [+] Neuroinvasive St. Louis encephalitis virus infection; [-]	A viral infectious disease that results_in inflamm..[+] A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis. [-]
Stargardt disease	STARGARDT DISEASE 1;	An age related macular degeneration that is charac..[+] An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness. [-]
Stevens-Johnson syndrome		A skin disease that is characterized by ulceration..[+] A skin disease that is characterized by ulceration of less than 10 percent of the surface area of the body. The disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of infection. [-]
Stickler syndrome		n_a
Stickler syndrome 1		A Stickler syndrome that has_material_basis_in het..[+] A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13. [-]
Stiff-Person syndrome	stiff man syndrome; Stiff-man syndrome; Stiff-man .. [+] stiff man syndrome; Stiff-man syndrome; Stiff-man syndrome (disorder); [-]	A movement disease that is of unknown etiology cha..[+] A movement disease that is of unknown etiology characterized by progressive rigidity. [-]
Stormorken syndrome	thrombocytopathy, asplenia and miosis;	A blood platelet disease characterized by thrombo..[+] A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It has material basis in heterozygous mutation in the STM1 gene on chromosome 11p15. It has an autosomal dominant inheritance pattern. [-]
Stromme syndrome	apple peel syndrome with microcephaly and ocular a.. [+] apple peel syndrome with microcephaly and ocular anomalies; CILD31; jejunal atresia with microcephaly and ocular anomalies; lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome; primary ciliary dyskinesia 31; [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41. [-]
Sugarman brachydactyly	brachydactyly with major proximal phalangeal short.. [+] brachydactyly with major proximal phalangeal shortening; [-]	A brachydactyly characterized by a nonarticulating..[+] A brachydactyly characterized by a nonarticulating great toe set dorsal and proximal to the typical position. [-]
Sveinsson chorioretinal atrophy	atrophia areata; helicoid peripapillary chorioreti.. [+] atrophia areata; helicoid peripapillary chorioretinal degeneration; HPCD; peripapillary chorioretinal degeneration, Icelandic type; SCRA; [-]	An eye disease characterized by presence in the fu..[+] An eye disease characterized by presence in the fundus of progressive bilateral retinal and choroidal atrophy leading to central vision loss that has_material_basis_in heterozygous mutation in TEAD1 on 11p15.3. [-]
Sweet syndrome	Acute Febrile Neutrophilic Dermatosis; Sweet's syn.. [+] Acute Febrile Neutrophilic Dermatosis; Sweet's syndrome; [-]	A skin disease that is characterized by sudden ons..[+] A skin disease that is characterized by sudden onset of well defined tender plaques or nodules accompanied by fever, arthralgias, ocular inflammation, headaches and, rarely, oral or genital lesions. [-]
T cell deficiency		n_a
T lymphocyte deficiency	T-cell Immunodeficiency; T-lymphocyte deficiency (.. [+] T-cell Immunodeficiency; T-lymphocyte deficiency (finding); T-lymphocyte immunodeficiency (disorder); [-]	n_a
T-cell adult acute lymphocytic leukemia	adult Precursor T Lymphoblastic Leukemia;	n_a
T-cell childhood acute lymphocytic leukemia		A childhood acute lymphoblastic leukemia that has_..[+] A childhood acute lymphoblastic leukemia that has_material_basis in T-cells. [-]
T-cell childhood lymphoblastic lymphoma	Childhood T lymphoblastic lymphoma;	A lymphoblastic lymphoma that has_material_basis_i..[+] A lymphoblastic lymphoma that has_material_basis_in T-cells and that occurs during childhood. [-]
T-cell immunodeficiency, congenital alopecia, and nail dystrophy	alymphoid cystic thymic dysgenesis; severe T-cell .. [+] alymphoid cystic thymic dysgenesis; severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome; winged helix deficiency; [-]	A severe combined immunodeficiency characterized b..[+] A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has_material_basis_in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12. [-]
T-cell large granular lymphocyte leukemia	Large granular lymphocytic leukemia; Large granula.. [+] Large granular lymphocytic leukemia; Large granular lymphocytic leukaemia; T-cell large granular lymphocyte leukaemia; [-]	A T-cell acute lymphocytic leukemia that exhibits ..[+] A T-cell acute lymphocytic leukemia that exhibits an unexplained, chronic (greater than 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood. [-]
T-cell leukemia		n_a
T2-low asthma	type 2 low endotype;	A chronic asthma that is characterized by the path..[+] A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of non-atopic, smoking, obesity related, and elderly and that is characterized by neutrophilic (sputum neutrophils > 40–60%) or paucigranulocytic (i.e., normal sputum levels of both eosinophils and neutrophils) inflammation and a lack of response to corticosteroid therapy. [-]
TARP syndrome	Pierre Robin sequence-congenital heart defect-tali.. [+] Pierre Robin sequence-congenital heart defect-talipes syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome; TARPS; [-]	A syndrome characterized by talipes equinovarus, a..[+] A syndrome characterized by talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, cleft palate, and glossoptosis), and persistent left superior vena cava typically resulting in late prenatal or early postnatal mortality that has_material_basis_in hemizygous mutation in the RBM10 gene on chromosome Xp11.3. [-]
TSH producing pituitary tumor	Thyrotroph adenoma (disorder); TSH Secreting adeno.. [+] Thyrotroph adenoma (disorder); TSH Secreting adenoma of the Pituitary; TSH Secreting tumor of Pituitary; [-]	n_a
Takayasu's arteritis	(Aortic arch arteritis) or (Takayasu's disease[& p.. [+] (Aortic arch arteritis) or (Takayasu's disease[& pulseless]); Aortic arch arteritis; Aortic Arch syndrome; Aortic arch syndrome; Idiopathic aortitis (disorder); Takayasu arteritis; Takayasu's disease; [-]	A syndrome that involves inflammation of the aorta..[+] A syndrome that involves inflammation of the aorta that carries blood from the heart to the rest of the body. [-]
Tangier disease	familial alpha-lipoprotein deficiency; familial hi.. [+] familial alpha-lipoprotein deficiency; familial high density lipoprotein deficiency; familial hypoalphalipoproteinemia; [-]	n_a
Tay-Sachs disease	disease, Tay-Sachs; hexosaminidase A deficiency; T.. [+] disease, Tay-Sachs; hexosaminidase A deficiency; Tay-Sachs disease (disorder); [-]	n_a
Tay-Sachs disease AB variant	Tay-Sachs disease, variant AB (disorder);	n_a
Taylor's syndrome	Congestion-fibrosis syndrome; pelvic congestion sy.. [+] Congestion-fibrosis syndrome; pelvic congestion syndrome; Taylor syndrome; [-]	n_a
Thiel-Behnke corneal dystrophy	anterior limiting membrane dystrophy type II; corn.. [+] anterior limiting membrane dystrophy type II; corneal dystrophy honeycomb-shaped; corneal dystrophy of Bowman layer type II; TBCD; Waardenburg-Jonker corneal dystrophy; [-]	An epithelial-stromal TGFBI dystrophy that is char..[+] An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and honeycomb-shaped opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea. [-]
Tietz syndrome	albinism-deafness of Tietz; hypopigmentation/deafn.. [+] albinism-deafness of Tietz; hypopigmentation/deafness of Tietz; Tietz albinism-deafness syndrome; [-]	A syndrome that is characterized by congenital pro..[+] A syndrome that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has_material_basis_in mutation in the MITF gene on chromosome 3p13. [-]
Tietze's syndrome	Costalchondritis; Costochondral junction syndrome;.. [+] Costalchondritis; Costochondral junction syndrome; Costochondritis; Slipping rib syndrome; Tietze syndrome; Tietze's disease; [-]	n_a
Timothy grass allergy		A pollen allergy triggered by Phleum pratense poll..[+] A pollen allergy triggered by Phleum pratense pollen. [-]
Timothy syndrome		A syndrome that is characterized by cardiac, hand/..[+] A syndrome that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of the CACNA1C gene on chromosome 12p13.33. [-]
Torrance type platyspondylic dysplasia	lethal short-limbed platyspondylic dwarfism, Torra.. [+] lethal short-limbed platyspondylic dwarfism, Torrance type; platyspondylic dysplasia, Torrance-Luton type; platyspondylic lethal skeletal dysplasia, Torrance type; PLSD-T; PLSDT; thanatophoric dysplasia, Torrance variant; [-]	An osteochondrodysplasia characterized by decrease..[+] An osteochondrodysplasia characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. [-]
Townes-Brocks syndrome		A syndrome that is characterized by imperforate an..[+] A syndrome that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. [-]
Treacher Collins syndrome	(Mandibulofacial dysostosis) or (Franceschetti syn.. [+] (Mandibulofacial dysostosis) or (Franceschetti syndrome); mandibulofacial dysostosis; Franceschetti syndrome; [-]	A syndrome that is characterized by bilateral and ..[+] A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities. [-]
Treacher Collins syndrome 1		A Treacher Collins syndrome that has_material_basi..[+] A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the 'treacle' gene (TCOF1) on chromosome 5q32. [-]

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