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Disease	Synonyms	Description	Articles	Phenotypes
type 1 diabetes mellitus 8	Insulin-Dependent Diabetes Mellitus 8; IDDM8	A type 1 diabetes mellituss that has_material_basi..[+] A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 6q25-q27. [-]
type 1 diabetes mellitus 10	IDDM10; Insulin-Dependent Diabetes Mellitus 10	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the IL2RA gene on chromosome 10p15.1. [-]
type 1 diabetes mellitus 11	Insulin-Dependent Diabetes Mellitus 11; IDDM11	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 14q24.3-q31. [-]
type 1 diabetes mellitus 12	IDDM12; Insulin-Dependent Diabetes Mellitus 12	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the CTLA4 gene on chromosome 2q33.2. [-]
type 1 diabetes mellitus 13	IDDM13; Insulin-Dependent Diabetes Mellitus 13	A type 1 diabetes mellituss that has_material_basi..[+] A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 2q34. [-]
type 1 diabetes mellitus 15	IDDM15; Insulin-Dependent Diabetes Mellitus 15	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q21. [-]
type 1 diabetes mellitus 17	IDDM17; Insulin-Dependent Diabetes Mellitus 17	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q25. [-]
type 1 diabetes mellitus 18	IDDM18; Insulin-Dependent Diabetes Mellitus 18	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 5q31.1-q33.1. [-]
type 1 diabetes mellitus 19	Insulin-Dependent Diabetes Mellitus 19; IDDM19	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q24.3. [-]
type 1 diabetes mellitus 20	IDDM20; Insulin-Dependent Diabetes Mellitus 20	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the HNF1A gene on chromosome 12q24.31. [-]
type 1 diabetes mellitus 21	IDDM21; Insulin-Dependent Diabetes Mellitus 21	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q25. [-]
type 1 diabetes mellitus 22	IDDM22; Insulin-Dependent Diabetes Mellitus 22	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the CCR5 gene on chromosome 3p21.31. [-]
type 1 diabetes mellitus 23	IDDM23; Insulin-Dependent Diabetes Mellitus 23	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 4q27. [-]
type 1 diabetes mellitus 24	IDDM24; Insulin-Dependent Diabetes Mellitus 24	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q23.31. [-]
tibial muscular dystrophy	Tardive tibial muscular dystrophy; TMD; Finnish ti.. [+] TMD; Tardive tibial muscular dystrophy; Finnish tibial muscular dystrophy; Udd type distal myopathy; Udd myopathy; distal titinopathy [-]	A distal myopathy that is characterized by autosom..[+] A distal myopathy that is characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior comparment of the legs that has_material_basis_in heterozygous mutation in the gene encoding the giant skeletal muscle protein titin (TTN) on chromosome 2q31. [-]
transient bullous dermolysis of the newborn	DEB, bullous dermolysis of the newborn; DEB-BDN	An epidermolysis bullosa dystrophica characterized..[+] An epidermolysis bullosa dystrophica characterized by generalized blistering at birth that usually regresses by 6 to 24 months of age that has_material_basis_in heterozygous, compound heterozygous or homozygous mutation in COL7A1 on chromosome 3p21.31. [-]
trichohepatoenteric syndrome	THES; Tricho-hepato-enteric syndrome; phenotypic d.. [+] Tricho-hepato-enteric syndrome; THES; phenotypic diarrhea; SD/THE; syndromic diarrhea; Syndromic diarrhea/Tricho-hepato-enteric syndrome [-]	A syndrome characterized by intractable diarrhea, ..[+] A syndrome characterized by intractable diarrhea, facial dysmorphism, immune abnormalities, and hair abnormalities in nearly all patients with liver and/or skin abnormalities seen in more than half of cases that has_material_basis_in defects in components of the SKI complex. [-]
trichohepatoenteric syndrome 1	THES1	A trichohepatoenteric syndrome that has_material_b..[+] A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TTC37 gene on chromosome 5q15. [-]
trichohepatoenteric syndrome 2	THES2	A trichohepatoenteric syndrome that has_material_b..[+] A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the SKIV2L gene on chromosome 6p21.33. [-]
Torrance type platyspondylic dysplasia	thanatophoric dysplasia, Torrance variant; lethal .. [+] thanatophoric dysplasia, Torrance variant; lethal short-limbed platyspondylic dwarfism, Torrance type; platyspondylic dysplasia, Torrance-Luton type; platyspondylic lethal skeletal dysplasia, Torrance type; PLSD-T; PLSDT [-]	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. [-]
trichodontoosseous syndrome	tricho-dento-osseous syndrome; TDO syndrome	A syndrome characterized by curly kinky hair at bi..[+] A syndrome characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology that has_material_basis_in heterozygous mutation in the DLX3 gene on chromosome 17q21.33. [-]
Temtamy syndrome	Temtamy-Shalash syndrome; craniofacial dysmorphism.. [+] Temtamy-Shalash syndrome; craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation; dysmorphism, corpus callosum agenesis and colobomas; craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome [-]	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. [-]
Temple syndrome		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. [-]
TARP syndrome	TARPS; talipes equinovarus-atrial septal defect-Ro.. [+] TARPS; talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome [-]	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. [-]	1 articles
trichothiodystrophy	TTD	A syndrome characterized by sparse, brittle, sulfu..[+] A syndrome characterized by sparse, brittle, sulfur-deficient hair that is easily broken and in more severe cases delayed development, significant intellectual disability, and recurrent infections. [-]
thrombophilia due to activated protein C resistance	thrombophilia V; THPH2; thrombophilia due to defic.. [+] THPH2; thrombophilia V; thrombophilia due to deficiency of activated protein C cofactor; APC resistance; PCCF deficiency; PROC cofactor deficiency; activated protein C resistance [-]	A thrombophilia characterized by resistance of F5 ..[+] A thrombophilia characterized by resistance of F5 to cleavage and inactivation and increased tendency for thrombosis that has_material_basis_in heterozygous mutation in F5 on chromosome 1q24.2. [-]
thrombophilia due to HRG deficiency	THPH11; hereditary thrombophilia due to congenital.. [+] THPH11; hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency; hereditary thrombophilia due to congenital HRG deficiency [-]	A thrombophilia characterized by decreased histidi..[+] A thrombophilia characterized by decreased histidine-rich glycoprotein (HRG) plasma levels and a tendency to develop thrombosis that has_material_basis_in heterozygous mutation in HRG on chromosome 3q27.3. [-]
thrombophilia due to decreased release of PLAT	THPH9	A thrombophilia characterized by impaired capacity..[+] A thrombophilia characterized by impaired capacity for release of fibrinolytic activity from the blood vessel walls. [-]
thrombophilia due to thrombin defect	thrombophilia due to factor 2 defect; THPH1; proth.. [+] THPH1; thrombophilia due to factor 2 defect; prothrombin-related thrombophilia [-]	A thrombophilia characterized by recurrent thrombo..[+] A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2. [-]
thrombophilia due to thrombomodulin defect	THBD-related bleeding disorder; thrombomodulin-rel.. [+] THBD-related bleeding disorder; thrombomodulin-related coagulopathy; thrombomodulin-related bleeding disorder; THPH12; THBD-related coagulopathy [-]	A thrombophilia characterized by increased risk of..[+] A thrombophilia characterized by increased risk of developing arterial but not venous thrombosis that has_material_basis_in mutation in the THBD gene on chromosome 20p11.21. [-]
T cell, B cell, and NK cell deficiency		A combined immunodeficiency characterized by impai..[+] A combined immunodeficiency characterized by impaired function or reduced numbers of T cells, B cells, and natural killer (NK) cells. [-]
Tonne-Kalscheuer syndrome	TOKAS; intellectual developmental disorder with or.. [+] TOKAS; intellectual developmental disorder with or without hand and foot anomalies, genital anomalies, or congenital diaphragmatic hernia; MRX61; X-linked mental retardation 61 [-]	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. [-]
terminal osseous dysplasia	TOD; TODPD; terminal osseous dysplasia-pigmentary .. [+] TODPD; TOD; terminal osseous dysplasia-pigmentary defects syndrome; digital osseous dysplasia with facial pigmentary defects and multiple frenula; ODPD; ODPF syndrome [-]	A syndrome characterized by skeletal dysplasia of ..[+] A syndrome characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy that has_material_basis_in heterozygous mutation in the FLNA gene on chromosome Xq28. [-]
thyroid dyshormonogenesis 5	TDH5; genetic defect in thyroid hormonogenesis 5	A familial thyroid dyshormonogenesis that has_mate..[+] A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOXA2 on chromosome 15q21.1. [-]
thyroid dyshormonogenesis 1	TDH1; genetic defect in thyroid hormonogenesis 1; .. [+] TDH1; genetic defect in thyroid hormonogenesis 1; iodide accumulation, transport, or trapping defect [-]	A familial thyroid dyshormonogenesis that has_mate..[+] A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in SLC5A5 on chromosome 19p13.11. [-]
thyroid dyshormonogenesis 2A	TDH2A; thyroid peroxidase deficiency; iodide perox.. [+] thyroid peroxidase deficiency; TDH2A; iodide peroxidase deficiency; genetic defect in thyroid hormonogenesis 2A [-]	A familial thyroid dyshormonogenesis that has_mate..[+] A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TPO on chromosome 2p25.3. [-]
thyroid dyshormonogenesis 3	TDH3; genetic defect in thyroid hormonogenesis 3	A familial thyroid dyshormonogenesis that has_mate..[+] A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TG on chromosome 8q24.22. [-]
thyroid dyshormonogenesis 4	TDH4; deiodinase deficiency; genetic defect in thy.. [+] TDH4; deiodinase deficiency; genetic defect in thyroid hormonogenesis 4; iodotyrosine dehalogenase deficiency [-]	A familial thyroid dyshormonogenesis that has_mate..[+] A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in IYD on chromosome 6q25.1. [-]
thyroid dyshormonogenesis 6	TDH6; genetic defect in thyroid hormonogenesis 6	A familial thyroid dyshormonogenesis that has_mate..[+] A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOX2 on chromosome 15q21.1. [-]
tetraamelia syndrome	tetraamelia-multiple malformations syndrome; tetra.. [+] tetraamelia-multiple malformations syndrome; tetra-amelia syndrome; TETAMS [-]	A syndrome characterized by rudimentary or absent ..[+] A syndrome characterized by rudimentary or absent appendages and anomalies involving the cranium and face, urogenital system, anorectum, heart, lungs, skeleton, and/or central nervous system. [-]	1 articles
tetraamelia syndrome 1	tetra-amelia syndrome 1; TETAMS1	A tetraamelia syndrome characterized by complete l..[+] A tetraamelia syndrome characterized by complete limb agenesis without defects of scapulae or clavicles that has_material_basis_in homozygous or compound heterozygous mutation in WNT3 on chromosome 17q21.31-q21.32. [-]
tetraamelia syndrome 2	tetraamelia with pulmonary hypoplasia; tetra-ameli.. [+] tetraamelia with pulmonary hypoplasia; tetra-amelia with pulmonary hypoplasia; TETAMS2 [-]	A tetraamelia syndrome characterized by rudimentar..[+] A tetraamelia syndrome characterized by rudimentary or absent appendages, bilateral agenesis of the lungs, pulmonary vascular abnormalities, and dysmorphic features that has_material_basis_in homozygous or compound heterozygous mutation in RSPO2 on chromosome 8q23.1. [-]
Tatton-Brown-Rahman syndrome	Tatton-Brown-Rahman overgrowth syndrome; TBRS; DNM.. [+] TBRS; Tatton-Brown-Rahman overgrowth syndrome; DNMT3A overgrowth syndrome; DOS [-]	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. [-]
pleural tuberculosis	Tuberculous pleuritis; Tuberculous pleurisy; tuber.. [+] Tuberculous pleurisy; Tuberculous pleuritis; tuberculous pleurisy in primary progressive tuberculosis; Tuberculosis of pleura; Pearly disease [-]	An extrapulmonary tuberculosis that results_in lym..[+] An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac. [-]
heart cancer	Tumour of heart; malignant Cardiac tumor; malignan.. [+] Tumour of heart; malignant Cardiac tumor; malignant neoplasm of heart; Cardiac tumor [-]	A cardiovascular cancer located_in the heart.
benign giant cell tumor	tumor of the Giant cell; Giant cell neoplasm; Gian.. [+] tumor of the Giant cell; Giant cell neoplasm; Giant cell tumor (morphologic abnormality); Giant cell tumor (qualifier value); Giant cell tumors; Giant cell tumors (morphologic abnormality); Giant cell tumor NOS (morphologic abnormality) [-]	n_a
connective tissue cancer	Tumour of connective tissue; neoplasm of connectiv.. [+] Tumour of connective tissue; neoplasm of connective tissues; connective tissue neoplasm; mesenchymal tissue malignant neoplasm [-]	A musculoskeletal system cancer that is located_in..[+] A musculoskeletal system cancer that is located_in connective tissue. [-]	8 articles	8 matches
lacrimal system cancer	tumor of the lacrimal system; lacrimal system neop.. [+] tumor of the lacrimal system; lacrimal system neoplasm; neoplasm of lacrimal system (disorder); neoplasm of lacrimal system [-]	n_a
lacrimal gland cancer	tumor of the lacrimal gland; malignant neoplasm of.. [+] tumor of the lacrimal gland; malignant neoplasm of lacrimal gland; malignant tumour of lacrimal gland; neoplasm of lacrimal gland (disorder); neoplasm of lacrimal gland [-]	n_a
synovium neoplasm	tumor of Synovium; Synovial neoplasm (morphologic .. [+] tumor of Synovium; Synovial neoplasm (morphologic abnormality); Synovial neoplasm NOS (morphologic abnormality); Synovial neoplasm [-]	n_a

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