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Y-Z
T2 deficiency
see
beta-ketothiolase deficiency
TAAD
see
familial thoracic aortic aneurysm and dissection
Tachycardia, Ventricular
see
catecholaminergic polymorphic ventricular tachycardia
Tangier disease
tapetoretinal degeneration
see
retinitis pigmentosa
TAR syndrome
see
thrombocytopenia-absent radius syndrome
tardive tibial muscular dystrophy
see
tibial muscular dystrophy
tarsal-carpal coalition syndrome
task-specific focal dystonia
Taste and Smell Disorders
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
TCC
see
tarsal-carpal coalition syndrome
TCD
see
choroideremia
TD
see
Tourette syndrome
Tears
see
triple A syndrome
telangiectasia, cerebello-oculocutaneous
see
ataxia-telangiectasia
Temporomandibular Joint Dysfunction
see
auriculo-condylar syndrome
11q terminal deletion disorder
see
Jacobsen syndrome
Teschler-Nicola/Killian syndrome
see
Pallister-Killian mosaic syndrome
Testicular feminization
see
androgen insensitivity syndrome
testotoxicosis
see
familial male-limited precocious puberty
tetra-amelia syndrome
tetrahydrobiopterin deficiency
tetraphocomelia-cleft palate syndrome
see
Roberts syndrome
tetrasomy 12p, mosaic
see
Pallister-Killian mosaic syndrome
tetrasomy 18p
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
6q24-TNDM
see
6q24-related transient neonatal diabetes mellitus
TNDM type 1
see
6q24-related transient neonatal diabetes mellitus
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
TRAPS
see
tumor necrosis factor receptor-associated periodic syndrome
Treacher Collins syndrome
Tremor
tricho-rhino-phalangeal syndrome type II
see
Langer-Giedion syndrome
trichorhinophalangeal syndrome type II
see
Langer-Giedion syndrome
trichothiodystrophy
trifunctional protein deficiency, type 1
see
long-chain 3-hydroxyacyl-CoA 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 A syndrome
Triple H syndrome
see
ornithine translocase deficiency
triple symptom complex
see
Behçet disease
triple X syndrome
Triplo X syndrome
see
triple X syndrome
trisomy 13
trisomy 18
trisomy 21
see
Down syndrome
trisomy G
see
Down syndrome
Trisomy X
see
triple X syndrome
Trisomy Xq28
see
MECP2 duplication syndrome
TRMA
see
thiamine-responsive megaloblastic anemia syndrome
Troisier-Hanot-Chauffard syndrome
see
hemochromatosis
Troyer syndrome
TRPS II
see
Langer-Giedion syndrome
true microcephaly
see
autosomal recessive primary microcephaly
TS
see
Timothy syndrome
;
Tourette syndrome
;
Turner syndrome
TSD
see
Tay-Sachs disease
TSEs
see
prion disease
TTD
see
trichothiodystrophy
TTP
see
thrombotic thrombocytopenic purpura
tuberose sclerosis
see
tuberous sclerosis complex
Tuberous Sclerosis
see
tuberous sclerosis complex
tuberous sclerosis complex
tubular hypomagnesemia-hypokalemia with hypocalcuria
see
Gitelman syndrome
tumor necrosis factor receptor-associated periodic syndrome
tumor of the Ewing family
see
Ewing sarcoma
turban tumor syndrome
see
familial cylindromatosis
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 1 spinocerebellar ataxia
see
spinocerebellar ataxia type 1
type 6 spinocerebellar ataxia
see
spinocerebellar ataxia type 6
type I familial amyloid polyneuropathy
see
transthyretin amyloidosis
type II 3β-hydroxysteroid dehydrogenase deficiency
see
3-beta-hydroxysteroid dehydrogenase deficiency
type II familial amyloid polyneuropathy
see
transthyretin amyloidosis
type II MPGN
see
dense deposit disease
tyrosine hydroxylase deficiency
tyrosinemia
Published: February 11, 2013