| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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T-cell childhood lymphoblastic lymphoma
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Childhood T lymphoblastic lymphoma;
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A lymphoblastic lymphoma that has_material_basis_i.. [+]A lymphoblastic lymphoma that has_material_basis_in T-cells and that occurs during childhood.
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T-cell immunodeficiency, congenital alopecia, and nail dystrophy
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winged helix deficiency; alymphoid cystic thymic d..
[+]winged helix deficiency; alymphoid cystic thymic dysgenesis; severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome;
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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.
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T-cell large granular lymphocyte leukemia
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Large granular lymphocytic leukemia; T-cell large ..
[+]Large granular lymphocytic leukemia; T-cell large granular lymphocyte leukaemia; Large granular lymphocytic leukaemia;
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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.
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T-cell non-Hodgkin lymphoma
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A non-Hodgkin lymphoma of T-cell lineage.
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1 articles
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T-cell prolymphocytic leukemia
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Prolymphocytic leukemia, T-cell type; T Cell Proly..
[+]Prolymphocytic leukemia, T-cell type; T Cell Prolymphocytic Leukemia;
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A prolymphocytic leukemia that is characterized by.. [+]A prolymphocytic leukemia that is characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin.
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T2-high asthma
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type 2 high endotype;
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A chronic asthma that is characterized by the path.. [+]A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of early-onset allergic asthma, late-onset eosinophilic asthma, and aspirin-exacerbated respiratory disease.
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T2-low asthma
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type 2 low endotype;
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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.
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TANGO2-related metabolic encephalopathy and arrythmias
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metabolic encephalomyopathic crises, recurrent, wi..
[+]metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration; TANGO2 deficiency;
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A syndrome that is characterized by episodic metab.. [+]A syndrome that is characterized by episodic metabolic degeneration affecting skeletal muscle, cardiac muscle, and the nervous system and that has_material_basis_in homozygous or compound heterozygous mutation in the TANGO2 gene on chromosome 22q11.
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TARP syndrome
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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;
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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.
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1 articles
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TFE3-rearranged renal cell carcinoma
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Renal Cell Carcinoma Associated with Xp11.2 Transl..
[+]Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions; Xp11 Translocation Renal Cell Carcinoma;
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A renal cell carcinoma with MiT translocations tha.. [+]A renal cell carcinoma with MiT translocations that is characterized by the presence of different translocations involving the chromosome Xp11.2 and that result in the creation of gene fusions involving the TFE3 gene.
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TFEB-rearranged renal cell carcinoma
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Renal Cell Carcinoma with t(6;11);(p21;q12); MALAT..
[+]Renal Cell Carcinoma with t(6;11);(p21;q12); MALAT1-TFEB; Renal Cell Carcinoma with t(6;11);(p21;q12); MALAT1::TFEB; t(6;11) Renal Cell Carcinoma; t(6;11);(p21;q12) Renal Cell Carcinoma;
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A renal cell carcinoma with MiT translocations tha.. [+]A renal cell carcinoma with MiT translocations that is characterized by the presence of the chromosomal translocation t(6;11) which fuses the TFEB transcription factor gene, located on chromosome 6, with the MALAT1 gene, located on chromosome 11.
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TORCH syndrome
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A syndrome that is characterized by congenital inf.. [+]A syndrome that is characterized by congenital infection with toxoplasmosis, rubella, cytomegalovirus, herpes simplex, and other organisms.
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TSH producing pituitary tumor
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Thyrotroph adenoma (disorder); TSH Secreting adeno..
[+]Thyrotroph adenoma (disorder); TSH Secreting adenoma of the Pituitary; TSH Secreting tumor of Pituitary; TSH producing pituitary tumour; TSH Secreting tumour of Pituitary; Thyrotroph adenoma;
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n_a
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Takayasu's arteritis
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(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; Takayasu's disease; Idiopathic aortitis (disorder); Idiopathic aortitis; Takayasu arteritis; aortic arch syndrome;
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A vasculitis that involves inflammation of the aor.. [+]A vasculitis that involves inflammation of the aorta that carries blood from the heart to the rest of the body.
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Tangier disease
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familial alpha-lipoprotein deficiency; familial hy..
[+]familial alpha-lipoprotein deficiency; familial hypoalphalipoproteinemia; familial high density lipoprotein deficiency;
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A hypolipoproteinemia that is characterized by mar.. [+]A hypolipoproteinemia that is characterized by markedly reduced levels of plasma high density lipoproteins resulting in tissue accumulation of cholesterol esters and that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA1 gene on chromosome 9q31.
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Tatton-Brown-Rahman syndrome
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DNMT3A overgrowth syndrome; DOS; Tatton-Brown-Rahm..
[+]DNMT3A overgrowth syndrome; DOS; Tatton-Brown-Rahman overgrowth syndrome; TBRS;
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A syndromic intellectual disability characterized .. [+]A syndromic intellectual disability characterized by tall stature, a distinctive facial appearance, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DNMT3A gene on chromosome 2p23.3.
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Tay-Sachs disease
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disease, Tay-Sachs; hexosaminidase A deficiency; T..
[+]disease, Tay-Sachs; hexosaminidase A deficiency; Tay-Sachs disease (disorder); A GM2 gangliosidosis that is characterized the onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23.; GM2 gangliosidosis, type 1;
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A GM2 gangliosidosis that is characterized onset i.. [+]A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23.
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Taylor's syndrome
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pelvic congestion syndrome; Taylor syndrome; Conge..
[+]pelvic congestion syndrome; Taylor syndrome; Congestion-fibrosis syndrome;
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n_a
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Teebi hypertelorism syndrome
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Brachycephalofrontonasal dysplasia;
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A syndrome characterized by hypertelorism, promine.. [+]A syndrome characterized by hypertelorism, prominent forehead, thick eyebrows, and short nose with broad and depressed features.
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Teebi hypertelorism syndrome 1
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Opitz GBBB syndrome type II; SPECC1L-related hyper..
[+]Opitz GBBB syndrome type II; SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome-1;
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A Teebi hypertelorism syndrome that has_material_b.. [+]A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the SPECC1L gene on chromosome 22q11.2 or heterozygous deletion at chromosome 22q11.2.
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Teebi hypertelorism syndrome 2
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A Teebi hypertelorism syndrome that has_material_b.. [+]A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the CDH11 gene on chromosome 16q21.
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Temple syndrome
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A syndrome characterized by low birth weight, hypo.. [+]A syndrome characterized by low birth weight, hypotonia and motor delay, feeding problems early in life, early puberty, and significantly reduced final height that has_material_basis_in heterozygous mutation in an impriniting region on chromosome 14q32.
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Temtamy syndrome
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craniofacial dysmorphism with ocular coloboma abse..
[+]craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation; dysmorphism, corpus callosum agenesis and colobomas; Temtamy-Shalash syndrome; craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome;
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A syndrome characterized by variable craniofacial .. [+]A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in the C12ORF57 gene on chromosome 12p13.31.
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Thiel-Behnke corneal dystrophy
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corneal dystrophy honeycomb-shaped; Waardenburg-Jo..
[+]corneal dystrophy honeycomb-shaped; Waardenburg-Jonker corneal dystrophy; corneal dystrophy of Bowman layer type II; anterior limiting membrane dystrophy type II; TBCD;
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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.
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Thomsen disease
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Congenital myotonia, autosomal dominant form; Thom..
[+]Congenital myotonia, autosomal dominant form; Thomsen's disease;
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A myotonia congenita that is characterized by musc.. [+]A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34.
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Tietz syndrome
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hypopigmentation/deafness of Tietz; Tietz albinism..
[+]hypopigmentation/deafness of Tietz; Tietz albinism-deafness syndrome; albinism-deafness of Tietz;
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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.
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Tietze's syndrome
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Costochondral junction syndrome; Costochondritis; ..
[+]Costochondral junction syndrome; Costochondritis; Tietze's disease; Costalchondritis; Slipping rib syndrome; Tietze syndrome;
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n_a
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Timothy grass allergy
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A pollen allergy triggered by Phleum pratense poll.. [+]A pollen allergy triggered by Phleum pratense pollen.
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Timothy syndrome
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long QT syndrome with syndactyly;
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A syndrome characterized by cardiac, hand/foot, fa.. [+]A syndrome characterized by cardiac, hand/foot, facial, and neurodevelopmental features that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. 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.
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3 articles
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Tn polyagglutination syndrome
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galactosyltransferase deficiency;
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A hematopoietic system disease that is characteriz.. [+]A hematopoietic system disease that is characterized by red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns and has_material_basis_in somatic mutation in the C1GALT1C1 gene on chromosome Xq24.
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Tonne-Kalscheuer syndrome
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intellectual developmental disorder with or withou..
[+]intellectual developmental disorder with or without hand and foot anomalies, genital anomalies, or congenital diaphragmatic hernia; MRX61; TOKAS; X-linked mental retardation 61;
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A syndromic X-linked intellectual disability chara.. [+]A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities in most patients and variable congenital anomalies in some patients that has_material_basis_in mutation in the RLIM gene on chromosome Xq13.2.
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Torrance type platyspondylic dysplasia
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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;
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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.
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Townes-Brocks syndrome
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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.
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2 articles
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Treacher Collins syndrome
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(Mandibulofacial dysostosis) or (Franceschetti syn..
[+](Mandibulofacial dysostosis) or (Franceschetti syndrome); mandibulofacial dysostosis; Franceschetti syndrome; Mandibulofacial dysostosis;
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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.
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7 articles
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Treacher Collins syndrome 1
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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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Treacher Collins syndrome 2
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A Treacher Collins syndrome that has_material_basi.. [+]A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the POLR1D gene on chromosome 13q12.
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Treacher Collins syndrome 3
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A Treacher Collins syndrome that has_material_basi.. [+]A Treacher Collins syndrome that has_material_basis_in compound heterozygous mutation in the POLR1C gene on chromosome 6p21.
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Treacher Collins syndrome 4
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A Treacher Collins syndrome that is characterized .. [+]A Treacher Collins syndrome that is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia and that has_material_basis_in heterozygous mutation in the POLR1B gene on chromosome 2q14.
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Trichomonas tenax trichomoniasis
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A trichomoniasis that is caused by a singled-celle.. [+]A trichomoniasis that is caused by a singled-celled protozoan parasite Trichomonas tenax, which is transmitted through oral droplets, by kissing, or on fomites such as eating utensils. Trichomonas tenax causes periodonitis and bronchopulmonary trichomoniasis by aspiration from the oropharynx.
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Trichomonas vaginalis trichomoniasis
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urogenital trichomonas;
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A trichomoniasis that involves infection of the ur.. [+]A trichomoniasis that involves infection of the urogenital tract, has_material_basis_in Trichomonas vaginalis, which is transmitted through sexual contact. Symptoms include inflammation of the cervix, urethra and vagina which produce an itching or burning sensation, and yellow-green, itchy, frothy foul-smelling vaginal discharge.
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Troyer syndrome
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autosomal recessive spastic paraplegia 20; autosom..
[+]autosomal recessive spastic paraplegia 20; autosomal recessive spastic paraplegia Troyer type; autosomal recessive spastic paraplegia type 20; childhood-onset spastic paraparesis with distal muscle wasting; hereditary spastic paraplegia 20; spastic paraplegia 20 (Troyer syndrome); spastic paraplegia type 20; SPG20; spastic paraplegia 20;
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A hereditary spastic paraplegia that is characteri.. [+]A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene.
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Tukel syndrome
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congenital fibrosis of the extraocular muscles 4;
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A congenital fibrosis of the extraocular muscles t.. [+]A congenital fibrosis of the extraocular muscles that is characterized by nonprogressive restrictive ophthalmoplegia with blepharoptosis of the right eye and postaxial oligodactyly/oligosyndactyly of the hands, with the right more severely affected than the left.
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Turner syndrome
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Gonadal dysgenesis - Turner; Karyotype 45, X; Mono..
[+]Gonadal dysgenesis - Turner; Karyotype 45, X; Monosomy X; XO syndrome; monosomy X syndrome; Bonnevie-Ullrich syndrome;
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A gonadal dysgenesis that is characterized by shor.. [+]A gonadal dysgenesis that is characterized by short stature and early loss of ovarian function resulting from ovarian hypofunction or premature ovarian failure and has_material_basis_in one missing or structurally altered X chromosome.
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1 articles
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UV-sensitive syndrome
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A skin disease characterized by photosensitivity a.. [+]A skin disease characterized by photosensitivity and liver spots (solar lentigines).
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Ullrich congenital muscular dystrophy
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ULLRICH DISEASE; Ullrich scleroatonic muscular dys..
[+]ULLRICH DISEASE; Ullrich scleroatonic muscular dystrophy;
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A congenital muscular dystrophy that is characteri.. [+]A congenital muscular dystrophy that is characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, with a loss of ambulation (if achieved) and uniform respiratory insufficiency during childhood that has_material_basis_in mutations in COL6A1, COL6A2 and COL6A3 genes.
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Ullrich congenital muscular dystrophy 1A
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An Ullrich congenital muscular dystrophy character.. [+]An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A1 gene on chromosome 21q22.
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Ullrich congenital muscular dystrophy 1B
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An Ullrich congenital muscular dystrophy character.. [+]An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A2 gene on chromosome 21q22.
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Ullrich congenital muscular dystrophy 1C
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An Ullrich congenital muscular dystrophy character.. [+]An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous or heterozygous mutation in the COL6A3 gene on chromosome 2q37.
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Ullrich congenital muscular dystrophy 2
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An Ullrich congenital muscular dystrophy character.. [+]An Ullrich congenital muscular dystrophy characterized by joint hypermobility, proximal contractures, and muscle weakness precluding ambulation that has_material_basis_in homozygous mutation in the COL12A1 gene on chromosome 6q.
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Unverricht-Lundborg syndrome
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Unverricht - Lundborg disease; Unverricht-Lundborg..
[+]Unverricht - Lundborg disease; Unverricht-Lundborg disease; Unverricht's disease;
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A progressive myoclonus epilepsy characterized by .. [+]A progressive myoclonus epilepsy characterized by onset between 6 and 13 years of age of action- and stimulus-sensitive myoclonus, tonic-clonic seizures with ataxia, and a mild cognitive decline.
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1 articles
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