T
T2 deficiency
Tabatznik syndrome
TAC
TACH syndrome
Tacrolimus dose selection
TAFRO syndrome
Takao syndrome
Takatsuki syndrome
Takayasu arteritis
Takenouchi-Kosaki syndrome
Takotsubo cardiomyopathy
Tako-Tsubo cardiomyopathy
Takotsubo syndrome
Tako-Tsubo syndrome
TALDO deficiency
Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome
T-ALL
Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome
Tall stature-intellectual disability-facial dysmorphism syndrome
Tall stature-intellectual disability-renal anomalies syndrome
Tall stature-scoliosis-macrodactyly of the great toes syndrome
Tall stature-scoliosis-macrodactyly of the halluces syndrome
Talo-patello-scaphoid osteolysis
Tangier disease
Tapetochoroidal dystrophy
Tappeiner-Pfleger disease
Tarlov cyst
TARP syndrome
Tarsal-carpal coalition syndrome
Tarsal kink syndrome
TAR syndrome
Tarui disease
Tatton-Brown-Rahman overgrowth syndrome
Tattoo dysplasia
Taurodontia-absent teeth-sparse hair syndrome
Taurodontism
Taussig-Bing syndrome
Taybi-Linder syndrome
Taybi syndrome
Tay-Sachs disease
Tay-Sachs disease, B1 variant
Tay-Sachs disease, B variant, adult form
Tay-Sachs disease, B variant, infantile form
Tay-Sachs disease, B variant, juvenile form
TBCD
TBCK-related intellectual disability syndrome
TBE
TBM
TBS
T-B+ SCID
T-B- SCID
T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta
T-B+ SCID due to CD45 deficiency
T-B+ SCID due to gamma chain deficiency
T-B+ SCID due to IL-7Ralpha deficiency
T-B+ SCID due to JAK3 deficiency
T-B+ severe combined immunodeficiency
T-B- severe combined immunodeficiency
T+ B+ severe combined immunodeficiency
T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
T-B+ severe combined immunodeficiency due to CD45 deficiency
T-B+ severe combined immunodeficiency due to gamma chain deficiency
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
T-B+ severe combined immunodeficiency due to JAK3 deficiency
T-B+ severe combined immunodeficiency, X-linked
TCA cycle disorder
T-cell chronic lymphocytic leukemia
T-cell/histiocyte rich large B cell lymphoma
T-cell immunodeficiency due to RHOH deficiency
T-cell immunodeficiency with epidermodysplasia verruciformis
T-cell large granular lymphocyte leukemia
T-cell LGL leukemia
T-cell lymphoma, AILD type
T-cell NHL
T-cell non-Hodgkin lymphoma
T-cell prolymphocytic leukemia
TCI deficiency
TCP
TCR-alpha-beta-positive T-cell deficiency
TCR-alpha-beta+ T-cell deficiency
TD
TD1
TD2
TDO syndrome
Teebi-Al Saleh-Hassoon syndrome
Teebi hypertelorism syndrome
Teebi-Kaurah syndrome
Teebi-Naguib-Alawadi syndrome
Teebi-Shaltout syndrome
Teebi syndrome
Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome
Telangiectasia macularis eruptiva perstans
Telecanthus-hypertelorism-strabismus-pes cavus syndrome
Telfer-Sugar-Jaeger syndrome
Tel Hashomer camptodactyly syndrome
TELO2-related intellectual disability-neurodevelopmental disorder
Telomeric 15q deletion syndrome
Telomeric deletion 10p
Telomeric deletion 10q
Telomeric deletion 11q
Telomeric deletion 12q
Telomeric deletion13q
Telomeric deletion 14q
Telomeric deletion 17p
Telomeric deletion 17q
Telomeric deletion 19p
Telomeric deletion 1q
Telomeric deletion 20q
Telomeric deletion 4p
Telomeric deletion 4q
Telomeric deletion 5q
Telomeric deletion 7p
Telomeric deletion 7q36
Telomeric deletion 9p
Telomeric duplication 10q
Telomeric duplication 11q
Telomeric duplication 13q
Telomeric duplication 14q
Telomeric duplication 15q
Telomeric duplication 16p
Telomeric duplication 16q
Telomeric duplication 17q
Telomeric duplication 18q
Telomeric duplication 19q
Telomeric duplication 1p36
Telomeric duplication 20q
Telomeric duplication 22q
Telomeric duplication 2p
Telomeric duplication 2q
Telomeric duplication 3p
Telomeric duplication 4p
Telomeric duplication 4q
Telomeric duplication 5q
Telomeric duplication 6p
Telomeric duplication 6q
Telomeric duplication 7p
Telomeric duplication 8q
Telomeric duplication 9q
Telomeric duplication Xq
Telomeric monosomy 3p
TEMF
Temperature-sensitive oculocutaneous albinism type 1
TEMPI syndrome
Temple-Baraitser syndrome
Temple syndrome
Temple syndrome due to maternal uniparental disomy of chromosome 14
Temple syndrome due to paternal 14q32.2 hypomethylation
Temple syndrome due to paternal 14q32.2 microdeletion
Temporal arteritis
Temporomandibular joint anomaly
Temtamy preaxial brachydactyly syndrome
Temtamy-Shalash syndrome
Temtamy syndrome
TEN
Tenosynovial giant cell tumor
Teratogenic Pierre Robin sequence
Teratogenic Pierre Robin syndrome
Teratoma of the central nervous system
Teratoma of the nasopharynx
Teratoma of the testis
Ter Haar syndrome
Terminal complement pathway deficiency
Terminal osseous dysplasia-pigmentary defects syndrome
Terminal transverse limb defect
Terrien marginal degeneration
Tessier cleft number 1,2
Tessier number 0-14 and 30 facial cleft
Tessier number 1-1 and 2-12 facial cleft
Tessier number 1 cleft
Tessier number 4 facial cleft
Tessier number 5 facial cleft
Tessier number 6 facial cleft
Tessier number 7 facial cleft
Testicular agenesis
Testicular and paratesticular tumor
Testicular feminization syndrome
Testicular germ cell tumor
Testicular non-dysgerminomatous germ cell tumor
Testicular non seminomatous germ cell tumor
Testicular regression syndrome
Testicular seminoma
Testicular seminomatous germ cell tumor
Testicular sex cord-stromal tumor
Testicular teratoma
Testotoxicosis
Tetanus
Tetra-amelia
Tetraamelia-multiple malformations syndrome
Tetragametic chimerism
Tetrahydrobiopterin-responsive HPA/PKU
Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
Tetralogy of Fallot
Tetramelic monodactyly
Tetraploidy
Tetrasomy 11q24.1
Tetrasomy 12p
Tetrasomy 15(q25-qter)
Tetrasomy 15q26
Tetrasomy 16p12.1p12.3
Tetrasomy 18p
Tetrasomy 21
Tetrasomy 5p
Tetrasomy 9p
Tetrasomy X
Tetra X
Teunissen-Cremers syndrome
TFPD
TFP deficiency
TFR2-related hemochromatosis
TFRC-related combined immunodeficiency
TGA
TGA with cardiac malformation
TGA with coarctation
TGCT
TGCV
TGV
Thakker-Donnai syndrome
Thalidomide embryopathy
Thanatophoric dwarfism-cloverleaf skull syndrome
Thanatophoric dwarfism type 1
Thanatophoric dwarfism type 2
Thanatophoric dysplasia
Thanatophoric dysplasia type 1
Thanatophoric dysplasia type 2
Thauvin-Robinet-Faivre syndrome
THBD-related bleeding disorder
THBD-related coagulopathy
Theca (steroid-producing) cell cancer, not further specified
Theca steroid-producing cell malignant tumor of ovary, not further specified
Theodore’s superior limbic keratoconjunctivitis
Theodore’s syndrome
Therapy related acute myeloid leukemia and myelodysplastic syndrome
Therapy-related AML and myelodysplastic syndrome
Thiamine-responsive BCKD deficiency
Thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency
Thiamine-responsive encephalopathy
Thiamine-responsive maple syrup urine disease
Thiamine-responsive megaloblastic anemia syndrome
Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness
Thiamine-responsive MSUD
Thickened earlobes-conductive deafness syndrome
Thiel-Behnke corneal dystrophy
Thiemann disease, familial form
Thies-Reis syndrome
Thinking seizures
Thin ribs-tubular bones-dysmorphism syndrome
Third branchial cleft anomaly
Third branchial cleft cyst
Third branchial cleft fistula
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
Thomas-Jewett-Raines syndrome
Thomas syndrome
Thompson-Baraitser syndrome
Thomsen and Becker disease
Thong-Douglas-Ferrante syndrome
Thoracic dysplasia-hydrocephalus syndrome
Thoracic malformation
Thoracic outlet compression syndrome
Thoracic outlet syndrome
Thoraco-abdominal enteric duplication
Thoraco-abdominal syndrome
Thoracolaryngopelvic dysplasia
Thoracolimb dysplasia, Rivera type
Thoracolumbosacral spina bifida aperta
Thoracolumbosacral spina bifida cystica
Thoracomelic dysplasia
THRLBCL
Thromboangiitis obliterans
Thrombocythemia with distal limb defects
Thrombocytopathy-asplenia-miosis syndrome
Thrombocytopenia-absent radius syndrome
Thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome
Thrombocytopenia with congenital dyserythropoietic anemia
Thrombocytopenic purpura, autoimmune
Thrombomodulin-related bleeding disorder
Thrombomodulin-related coagulopathy
Thrombotic microangiopathy
Thrombotic thrombocytopenic purpura
Thrombotic thrombocytopenic purpura due to anti-ADAMTS-13 antibodies
TH-SHFM
Thumb deformity-alopecia-pigmentation anomaly syndrome
Thumb hypodactyly
Thumb oligodactyly
Thumb stiffness-brachydactyly-intellectual disability syndrome
Thurston syndrome
Thygeson superficial punctate keratopathy
Thymic aplasia
Thymic carcinoma
Thymic epithelial neoplasm
Thymic epithelial tumor
Thymic neuroendocrine carcinoma
Thymic neuroendocrine tumor
Thymic-renal-anal-lung dysplasia
Thymic tumor
Thymoma
Thymoma-immunodeficiency syndrome
Thymoma type A
Thymoma type AB
Thymoma type B
Thyrocerebrorenal syndrome
Thyroid carcinoma
Thyroid dyshormonogenesis
Thyroid ectopia
Thyroid hemiagenesis
Thyroid hypoplasia
Thyroid lymphoma
Thyroid-renal-digital anomalies
Thyroid stimulating hormone-secreting pituitary adenoma
Thyroid tumor
Thyrotoxic hypokalemic periodic paralysis
Thyrotoxic periodic paralysis
Thyrotroph adenoma
Tibial aplasia-ectrodactyly syndrome
Tibial hemimelia
Tibial hemimelia-ectrodactyly syndrome
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
Tibial hemimelia with split hand/foot malformation
Tibial longitudinal meromelia
Tibial muscular dystrophy
Tibia vara Blount
Tibio-fibular fusion
Tibio-fibular synostosis
Tibiofibular terminal transverse meromelia
Tick-borne encephalitis
Tietz syndrome
Timothy syndrome
TINU syndrome
TIO
TJP2 deficit
TKT deficiency
T-LGL
TMAU
TMBTS
TMD
TMD
TMEM165-CDG
TMEM199-CDG
TMEM70-related mitochondrial encephalo-cardio-myopathy
TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome
TNDM
TNF receptor 1-associated periodic syndrome
Tolosa-Hunt syndrome
Toluene embryopathy
Tomaculous neuropathy
Tonic pupil-tendon areflexia syndrome
Tonoki-Ohura-Niikawa syndrome
Tooth and nail syndrome
Torg-Winchester syndrome
Toriello-Carey syndrome
Toriello-Higgins-Miller syndrome
Toriello-Lacassie-Droste syndrome
Toriello syndrome
Torsade-de-pointes syndrome with short coupling interval
Torticollis-keloids-cryptorchidism-renal dysplasia syndrome
Tortuosity of retinal arteries
TOS
Tosti syndrome
Total amelia
Total autosomal monosomy
Total autosomal trisomy
Total color blindness
Total early-onset cataract
Total septate uterus
Total spina bifida aperta
Total spina bifida cystica
Total uveitis
Touraine-Solente-Gole syndrome
Townes-Brocks syndrome
Townes syndrome
Toxic dermatosis
Toxic epidermal necrolysis
Toxic epidermolysis
Toxicity or absent response to clozapine
Toxic maculopathy due to antimalarial drugs
Toxic oil syndrome
Toxic or drug-related embryofetopathy
Toxic pustuloderma
Toxin-mediated infectious botulism
Toxin-mediated infective botulism
Toxocariasis
Toxoplasma embryofetopathy
Toxoplasma embryopathy
TPHA
T-PLL
TPPII deficiency
TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease
TPT-PS syndrome
Traboulsi syndrome
Tracheal agenesis
Tracheal anomaly
Tracheobronchomegaly
Tracheobronchopathia osteochondroplastica
Tracheopathia osteoplastica
Tranebjaerg-Svejgaard syndrome
Transaldolase deficiency
Transcobalamin-1 deficiency
Transcobalamin deficiency
Transcobalamin I deficiency
Transcobalamin II deficiency
Transcortin deficiency
Transgrediens et progrediens palmoplantar keratoderma
Transgrediens et progrediens PPK
Transgrediens palmoplantar keratoderma of Siemens
Transient abnormal myelopoiesis
Transient acquired pure red cell aplasia
Transient bullous dermolysis of the newborn
Transient congenital hypothyroidism
Transient congenital hypothyroidism due to maternal factor
Transient congenital hypothyroidism due to neonatal factor
Transient erythroblastopenia of childhood
Transient familial neonatal hyperbilirubinemia
Transient hyperammonemia of the newborn
Transient hypogammaglobulinemia of infancy
Transient infantile hypertriglyceridemia and fatty liver
Transient infantile hypertriglyceridemia and hepatosteatosis
Transient left ventricular apical ballooning syndrome
Transient myeloproliferative disease
Transient myeloproliferative syndrome
Transient neonatal acquired myasthenia
Transient neonatal autoimmune myasthenia gravis
Transient neonatal cyanosis and anemia due to Toms River Hemoglobin
Transient neonatal diabetes mellitus
Transient neonatal glutaric acidemia type 2
Transient neonatal glutaric aciduria type 2
Transient neonatal MADD
Transient neonatal MAD deficiency
Transient neonatal multiple acyl-CoA dehydrogenase deficiency
Transient neonatal myasthenia gravis
Transient pseudohypoaldosteronism
Transient reactive papulotranslucent acrokeratoderma
Transient tyrosinemia of the neonate
Transient tyrosinemia of the newborn
Transitional cell carcinoma of the corpus uteri
Transitional PMD
Transketolase deficiency
Translocation renal cell carcinoma
Transmissible spongiform encephalopathy
Transplacentally acquired neonatal autoimmune disease
Transposition of the great arteries
Transposition of the great arteries and conotruncal cardiac anomaly
Transposition of the great vessels
Transthyretin amyloid cardiopathy
Transthyretin amyloid neuropathy
Transthyretin amyloid polyneuropathy
Transthyretin-related familial amyloid cardiomyopathy
Transverse facial cleft
Transverse vaginal septum
TRAPS syndrome
Traumatic avascular necrosis
Traumatic AVN
Traumatic myiasis
Treacher-Collins syndrome
Trehalase deficiency
Tremor-ataxia-central hypomyelination syndrome
Tremor-nystagmus-duodenal ulcer syndrome
Trench fever
Trevor disease
TRH resistance syndrome
Triad syndrome
TRIANGLE disease
Triangular tibia-fibular aplasia syndrome
Triatrial heart
Tricarboxylic acid cycle disorder
Trichinellosis
Trichinosis
Trichodental syndrome
Tricho-dento-osseous syndrome
Trichodermodysplasia-dental alterations syndrome
Trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome
Trichodysplasia-amelogenesis imperfecta syndrome
Trichodysplasia spinulosa
Trichodysplasia-xeroderma syndrome
Trichofolliculoma
Trichohepatoenteric syndrome
Tricho-hepato-enteric syndrome
Trichomatrical carcinoma
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Trichoodontoonychial dysplasia
Trichoodontoonychial dysplasia with bone deficiency in frontoparietal region
Trichopoliodystrophy
Tricho-retino-dento-digital syndrome
Trichorhinophalangeal syndrome
Trichorhinophalangeal syndrome type 1 and 3
Trichorhinophalangeal syndrome type 2
Trichothiodystrophy
Tricuspid atresia
Tricuspid valve agenesis
Tricuspid valve prolapse
Trigeminal autonomic cephalalgia
Trigeminal neuralgia
Triglyceride deposit cardiomyovasculopathy
Triglyceride deposit cardiomyovasculopathy
Trigonocephaly-bifid nose-acral anomalies syndrome
Trigonocephaly-broad thumbs syndrome
Trigonocephaly C syndrome
Trigonocephaly-short stature-developmental delay syndrome
Trilineage bone marrow failure-developmental delay syndrome
Triopia
Triose phosphate-isomerase deficiency
Trip(16)(p12.1p12.3)
Tripeptidyl-peptidase II deficiency
Triphalangeal thumb-polysyndactyly syndrome
Triphalangeal thumbs-brachyectrodactyly syndrome
Triphalangeal thumbs-dislocation of patella syndrome
Triple A syndrome
Triple H syndrome
Triple X syndrome
Triploidy
Triplo-X syndrome
Trismus-pseudocamptodactyly syndrome
Trisomy 10 mosaicism
Trisomy 10p
Trisomy 10q22.3q23.3
Trisomy 10qter
Trisomy 11p15.4
Trisomy 11qter
Trisomy 12 mosaicism
Trisomy 12p
Trisomy 13
Trisomy 13qter
Trisomy 14 mosaicism
Trisomy 14q11.2
Trisomy 14q32
Trisomy 14qter
Trisomy 15 mosaicism
Trisomy 15q11q13
Trisomy 15qter
Trisomy 16 mosaicism
Trisomy 16p11.2p12.2
Trisomy 16p13.11
Trisomy 16pter
Trisomy 16qter
Trisomy 17 mosaicism
Trisomy 17p
Trisomy 17p11.2
Trisomy 17p11.2p12
Trisomy 17p11.2-p12
Trisomy 17p13.3
Trisomy 17q11.2
Trisomy 17q12
Trisomy 17q21.31
Trisomy 17qter
Trisomy 18
Trisomy 18p
Trisomy 18qter
Trisomy 19qter
Trisomy 1 mosaicism
Trisomy 1pter
Trisomy 1q
Trisomy 1q21.1
Trisomy 20 mosaicism
Trisomy 20p
Trisomy 20qter
Trisomy 21
Trisomy 22 mosaicism
Trisomy 22q11.2
Trisomy 22qter
Trisomy 2 mosaicism
Trisomy 2pter
Trisomy 2q23.1
Trisomy 2qter
Trisomy 3 mosaicism
Trisomy 3pter
Trisomy 3q26
Trisomy 3q29
Trisomy 4 mosaicism
Trisomy 4p
Trisomy 4pter
Trisomy 4qter
Trisomy 5 mosaicism
Trisomy 5p
Trisomy 5p13
Trisomy 5q35
Trisomy 5qter
Trisomy 6pter
Trisomy 6qter
Trisomy 7 mosaicism
Trisomy 7p22.1
Trisomy 7pter
Trisomy 7q11.23
Trisomy 8 mosaicism
Trisomy 8p
Trisomy 8p23.1
Trisomy 8q
Trisomy 8q12
Trisomy 8qter
Trisomy 9 mosaicism
Trisomy 9p
Trisomy 9qter
Trisomy of the short arm of chromosome 18
Trisomy of the short arm of chromosome 4
Trisomy of the short arm of chromosome 5
Trisomy of the short arm of chromosome 9
Trisomy X
Trisomy Xp11.22p11.23
Trisomy Xq27.3q28
Trisomy Xq27.3-q28
Trisomy Xq28
Tritan colour blindness
Tritanopia
TRMA
tRNA-LYS-related cardiomyopathy-hearing loss syndrome
Troncular lymphatic malformation
Troncular lymphatic malformation
Tropical calcific chronic pancreatitis
Tropical endomyocardial fibrosis
Tropical pancreatitis
Tropical pyomyositis
Tropical spastic paraparesis
Troyer syndrome
TRPV4-related bone disorder
TRS
True congenital pancreatic cyst
True congenital shoulder dislocation
True microcephaly
True unicornuate uterus
Truncus arteriosus
TS
Tsao-Ellingson syndrome
TSE
TSGCT
TSH-oma
TSH-secreting pituitary adenoma
TS OCA type 1
TSP
Tsukahara-Kajii syndrome
Tsukahara syndrome
Tsutsugamushi disease
Tsutsugamushi fever
TTP
TTR amyloid neuropathy
TTR-related amyloid cardiomyopathy
TTR-related cardiac amyloidosis
Tubal cancer
Tubercular meningitis
Tuberculosis
Tuberculous meningitis
Tuberous sclerosis
Tuberous sclerosis complex
Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome
Tubular aggregate myopathy
Tubular duplication of the esophagus
Tubular renal disease-cardiomyopathy syndrome
Tubulinopathy-associated dysgyria
Tubulocystic renal cell carcinoma
Tubulointerstitial nephritis and uveitis syndrome
Tucker syndrome
Tufted angioma
Tularemia
Tulip-bulb digger’s palsy
Tumor-induced osteomalacia
Tumor necrosis factor receptor 1 associated periodic syndrome
Tumor of cranial and spinal nerves
Tumor of endocrine glands
Tumor of hematopoietic and lymphoid tissues
Tumor of meninges
Tumor of testis and paratestis
Tumor susceptibility linked to germline BAP1 mutations
Tungiasis
Tungland-Bellman syndrome
Tunnel subaortic stenosis
Turban tumor syndrome
Turcot syndrome with polyposis
Turner-Kieser syndrome
Turner syndrome
Turner syndrome due to structural X chromosome anomalies
Turricephaly
Twin to twin transfusion syndrome
Twisted atrioventricular connections
Twisted hair
Tylosis-oesophageal carcinoma syndrome
Type 11 collagen-related bone disorder
Type 1 condylar hyperplasia
Type 1 interferonopathy
Type 1 interferonopathy of childhood
Type 1 syndactyly-microcephaly-intellectual disability syndrome
Type 2 collagen-related bone disorder
Type II mixed cryoglobulinemia
Typhoid
Typhoidal salmonellosis
Typhoid fever
Typhus-group rickettsiae disease
Typhus-group rickettsiosis
Typical hemolytic uremic syndrome
Typical HUS
Typical nemaline myopathy
Typical urticaria pigmentosa
Typus Edinburgensis
Tyrosinase-negative oculocutaneous albinism
Tyrosine hydroxylase deficiency
Tyrosine hydroxylase-deficient dopa-responsive dystonia
Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency
Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency
Tyrosinemia due to HPD deficiency
Tyrosinemia due to TAT deficiency
Tyrosinemia due to tyrosine aminotransferase deficiency
Tyrosinemia type 1
Tyrosinemia type 2
Tyrosinemia type 3
Tyrosinemia type I
Tyrosinemia type II
Tyrosinemia type III