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Y-Z
T2 deficiency
see
beta-ketothiolase deficiency
Tangier disease
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
TCD
see
choroideremia
TD
see
Tourette syndrome
Telangiectasia, cerebello-oculocutaneous
see
ataxia-telangiectasia
Testicular feminization
see
androgen insensitivity syndrome
tetra-amelia syndrome
tetrahydrobiopterin deficiency
tetraphocomelia-cleft palate syndrome
see
Roberts syndrome
TFP deficiency
see
mitochondrial trifunctional protein deficiency
Thalassemia
see
beta thalassemia
thalassemia, beta type
see
beta thalassemia
thanatophoric dysplasia
thoracic asphyxiant dystrophy
see
asphyxiating thoracic dystrophy
three-M slender-boned nanism
see
3-M syndrome
three M syndrome
see
3-M 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
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
Troisier-Hanot-Chauffard syndrome
see
hemochromatosis
Troyer 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
tuberous sclerosis
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
tyrosinemia
Published: January 23, 2009