Genetic Conditions >

Browse Conditions

A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q-R | S | T | U | V | W | X | Y-Z

T2 deficiency see beta-ketothiolase deficiency
Tangier disease
TAR syndrome see thrombocytopenia-absent radius syndrome
Tardive tibial muscular dystrophy see tibial muscular dystrophy
Taste and Smell Disorders see Kallmann syndrome
Tay-Sachs disease see GM2-gangliosidosis, AB variant; Sandhoff disease; Tay-Sachs disease
Tay-Sachs Disease, AB Variant see GM2-gangliosidosis, AB variant
Taybi syndrome see otopalatodigital syndrome type 1; otopalatodigital syndrome type 2
TBG deficiency see inherited thyroxine-binding globulin deficiency
TCD see choroideremia
TD see Tourette syndrome
Telangiectasia, cerebello-oculocutaneous see ataxia-telangiectasia
11q terminal deletion disorder see Jacobsen syndrome
Teschler-Nicola/Killian syndrome see Pallister-Killian mosaic syndrome
Testicular feminization see androgen insensitivity syndrome
tetra-amelia syndrome
tetrahydrobiopterin deficiency
tetraphocomelia-cleft palate syndrome see Roberts syndrome
tetrasomy 12p, mosaic see Pallister-Killian mosaic syndrome
TFP deficiency see mitochondrial trifunctional protein deficiency
TH deficiency see tyrosine hydroxylase deficiency
TH-deficient DRD see tyrosine hydroxylase deficiency
Thalassemia
thalassemia, beta type see beta thalassemia
thanatophoric dysplasia
thiamine-responsive megaloblastic anemia syndrome
thoracic asphyxiant dystrophy see asphyxiating thoracic dystrophy
three-M slender-boned nanism see 3-M syndrome
three M syndrome see 3-M syndrome
thrombocytopenia-absent radius syndrome
Thrombophilia
thrombotic thrombocytopenic purpura
Thymidine phosphorylase deficiency see mitochondrial neurogastrointestinal encephalopathy disease
Thyroid Cancer see multiple endocrine neoplasia
Thyroid Diseases
tibial muscular dystrophy
Timothy syndrome
TMAU see trimethylaminuria
TMD see tibial muscular dystrophy
Toe Injuries and Disorders
tomaculous neuropathy see hereditary neuropathy with liability to pressure palsies
Tooth Disorders
Torsion dystonia-parkinsonism, Filipino type see X-linked dystonia-parkinsonism
Total hexosaminidase deficiency see Sandhoff disease
Total HPRT deficiency see Lesch-Nyhan syndrome
Total hypoxanthine-guanine phosphoribosyl transferase deficiency see Lesch-Nyhan syndrome
total lipodystrophy see Berardinelli-Seip congenital lipodystrophy
Tourette syndrome
Townes-Brocks Syndrome
Townes syndrome see Townes-Brocks Syndrome
TPA deficiency see mitochondrial trifunctional protein deficiency
Transmissible Dementias see prion disease
Transmissible Spongiform Encephalopathies see prion disease
transthyretin amyloidosis
Treacher Collins syndrome
Tremor see essential tremor
tricho-rhino-phalangeal syndrome type II see Langer-Giedion syndrome
trichorhinophalangeal syndrome type II see Langer-Giedion syndrome
trifunctional protein deficiency, type 1 see long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
trifunctional protein deficiency, type 2 see mitochondrial trifunctional protein deficiency
Triglyceride storage disease with ichthyosis see Chanarin-Dorfman syndrome
triglyceride storage disease with impaired long-chain fatty acid oxidation see Chanarin-Dorfman syndrome
trimethylaminuria
Triple H syndrome see ornithine translocase deficiency
triple X syndrome
Triplo X syndrome see triple X syndrome
trisomy 13
trisomy 18
Trisomy 21 see Down syndrome
Trisomy X see triple X syndrome
TRMA see thiamine-responsive megaloblastic anemia syndrome
Troisier-Hanot-Chauffard syndrome see hemochromatosis
Troyer syndrome
TRPS II see Langer-Giedion syndrome
TS see Timothy syndrome; Tourette syndrome; Turner syndrome
TSD see Tay-Sachs disease
TSEs see prion disease
TTP see thrombotic thrombocytopenic purpura
tuberose sclerosis see tuberous sclerosis complex
Tuberous Sclerosis see tuberous sclerosis complex
tuberous sclerosis complex
Turner-Kieser Syndrome see nail-patella syndrome
Turner-like syndrome see Noonan syndrome
Turner syndrome
Turner syndrome in female with X chromosome see Noonan syndrome
Turner's phenotype, karyotype normal see Noonan syndrome
type I familial amyloid polyneuropathy see transthyretin amyloidosis
type II familial amyloid polyneuropathy see transthyretin amyloidosis
tyrosine hydroxylase deficiency
tyrosinemia


		About Site Map Contact Us
	A service of the U.S. National Library of Medicine®
Home Conditions Genes Chromosomes Handbook Glossary Resources