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Disease Synonyms Description Articles Phenotypes
Simpson-Golabi-Behmel syndrome type 1
bulldog syndrome; DGSX Golabi-Rosen syndrome; Gola.. [+]
A syndrome characterized by pre- and postnatal ove..[+]
Sjogren's syndrome
Sicca syndrome; Sjogren syndrome; xerodermosteosis.. [+]
An autoimmune disease that involves attack of immu..[+]
Sjogren-Larsson syndrome
Sjogren Larsson syndrome; Sjogren-Larsson syndrome.. [+]
n_a
Skene gland carcinoma
carcinoma of the paraurethral gland; paraurethral .. [+]
n_a
Sly syndrome
beta-glucuronidase deficiency; deficiency of beta-.. [+]
A mucopolysaccharidosis characterized by a deficie..[+]
Smarca4-deficient sarcoma of thorax
SMARCA4-DTS;
A thoracic cancer that is characterized by poorly ..[+]
Smith-Lemli-Opitz syndrome
Rutledge lethal multiple congenital anomaly syndro.. [+]
n_a
Smith-Magenis syndrome
17p11.2 microdeletion syndrome; chromosome 17p11.2.. [+]
A chromosome deletion syndrome characterized by mi..[+]
Smith-McCort dysplasia
A Syggve-Melchior-Clausen disease characterized by..[+]
Smith-McCort dysplasia 2
A Smith-McCort dysplasia that is characterized by ..[+]
Sneddon syndrome
Idiopathic livedo reticularis with systemic involv.. [+]
n_a
Sorsby's fundus dystrophy
hemorrhagic macular dystrophy; pseudoinflammatory .. [+]
A hereditary retinal dystrophy characterized by au..[+]
Sotos syndrome
cerebral gigantism;
An autosomal recessive disease that occurs rarely ..[+]
Sotos syndrome 3
SOTOS3;
A Sotos syndrome that has_material_basis_in homozy..[+]
St. Louis encephalitis
Neuroinvasive St. Louis encephalitis virus infecti.. [+]
A viral infectious disease that results_in inflamm..[+]
Stargardt disease
STARGARDT DISEASE 1;
An age related macular degeneration that is charac..[+]
Stevens-Johnson syndrome
A skin disease that is characterized by ulceration..[+]
Stickler syndrome
n_a
Stickler syndrome 1
A Stickler syndrome that has_material_basis_in het..[+]
Stiff-Person syndrome
stiff man syndrome; Stiff-man syndrome; Stiff-man .. [+]
A movement disease that is of unknown etiology cha..[+]
Stormorken syndrome
thrombocytopathy, asplenia and miosis;
A blood platelet disease characterized by thrombo..[+]
Stromme syndrome
apple peel syndrome with microcephaly and ocular a.. [+]
A primary ciliary dyskinesia that is characterized..[+]
Sugarman brachydactyly
brachydactyly with major proximal phalangeal short.. [+]
A brachydactyly characterized by a nonarticulating..[+]
Sveinsson chorioretinal atrophy
atrophia areata; helicoid peripapillary chorioreti.. [+]
An eye disease characterized by presence in the fu..[+]
Sweet syndrome
Acute Febrile Neutrophilic Dermatosis; Sweet's syn.. [+]
A skin disease that is characterized by sudden ons..[+]
T cell deficiency
n_a
T lymphocyte deficiency
T-cell Immunodeficiency; T-lymphocyte deficiency (.. [+]
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_..[+]
T-cell childhood lymphoblastic lymphoma
Childhood T lymphoblastic lymphoma;
A lymphoblastic lymphoma that has_material_basis_i..[+]
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
alymphoid cystic thymic dysgenesis; severe T-cell .. [+]
A severe combined immunodeficiency characterized b..[+]
T-cell large granular lymphocyte leukemia
Large granular lymphocytic leukemia; Large granula.. [+]
A T-cell acute lymphocytic leukemia that exhibits ..[+]
T-cell leukemia
n_a
T2-low asthma
type 2 low endotype;
A chronic asthma that is characterized by the path..[+]
TARP syndrome
Pierre Robin sequence-congenital heart defect-tali.. [+]
A syndrome characterized by talipes equinovarus, a..[+]
TSH producing pituitary tumor
Thyrotroph adenoma (disorder); TSH Secreting adeno.. [+]
n_a
Takayasu's arteritis
(Aortic arch arteritis) or (Takayasu's disease[& p.. [+]
A syndrome that involves inflammation of the aorta..[+]
Tangier disease
familial alpha-lipoprotein deficiency; familial hi.. [+]
n_a
Tay-Sachs disease
disease, Tay-Sachs; hexosaminidase A deficiency; T.. [+]
n_a
Tay-Sachs disease AB variant
Tay-Sachs disease, variant AB (disorder);
n_a
Taylor's syndrome
Congestion-fibrosis syndrome; pelvic congestion sy.. [+]
n_a
Thiel-Behnke corneal dystrophy
anterior limiting membrane dystrophy type II; corn.. [+]
An epithelial-stromal TGFBI dystrophy that is char..[+]
Tietz syndrome
albinism-deafness of Tietz; hypopigmentation/deafn.. [+]
A syndrome that is characterized by congenital pro..[+]
Tietze's syndrome
Costalchondritis; Costochondral junction syndrome;.. [+]
n_a
Timothy grass allergy
A pollen allergy triggered by Phleum pratense poll..[+]
Timothy syndrome
A syndrome that is characterized by cardiac, hand/..[+]
Torrance type platyspondylic dysplasia
lethal short-limbed platyspondylic dwarfism, Torra.. [+]
An osteochondrodysplasia characterized by decrease..[+]
Townes-Brocks syndrome
A syndrome that is characterized by imperforate an..[+]
Treacher Collins syndrome
(Mandibulofacial dysostosis) or (Franceschetti syn.. [+]
A syndrome that is characterized by bilateral and ..[+]
Treacher Collins syndrome 1
A Treacher Collins syndrome that has_material_basi..[+]

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