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T2 deficiency see beta-ketothiolase deficiency
Tangier disease
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
TD see Tourette syndrome
Telangiectasia, cerebello-oculocutaneous see ataxia-telangiectasia
Testicular feminization see androgen insensitivity syndrome
tetra-amelia syndrome
tetrahydrobiopterin deficiency
TFP deficiency see mitochondrial trifunctional protein deficiency
Thalassemia see beta thalassemia
thalassemia, beta type see beta thalassemia
thanatophoric dysplasia
Thrombophilia
thrombotic thrombocytopenic purpura
Thyroid Cancer see multiple endocrine neoplasia
Thyroid Diseases
Timothy syndrome
TMAU see trimethylaminuria
Toe Injuries and Disorders
tomaculous neuropathy see hereditary neuropathy with liability to pressure palsies
Tooth Disorders
Total hexosaminidase deficiency see Sandhoff disease
Total HPRT deficiency see Lesch-Nyhan syndrome
Total hypoxanthine-guanine phosphoribosyl transferase deficiency see Lesch-Nyhan syndrome
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
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
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
tyrosinemia


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