|
Disease
|
|
Also Known as |
|
Tangier Disease
|
 |
Alphalipoproteinemia |
|
Tay-Sachs - General |
|
GM2 Gangliosidosis
Variant B |
|
|
Tay-Sachs
– Infantile
|
|
GM2 Gangliosidosis Type I |
|
Tay-Sachs
– Juvenile
|
|
GM2 Gangliosidosis Type III |
|
Tay-Sachs
– Late Onset
|
|
GM2 Gangliosidosis Type I |
|
Tay-Sachs
– Variant
|
|
GM2 Gangliosidosis |
|
Tetrahydrobiopterin Deficiency
|
|
Malignant Hyperphenlalaninemia |
|
|
Tetrahydrofolate
Methyltransferase Deficiency |
|
Methionine Synthase
Deficiency |
|
Thalassaemia
|
|
Cooley’s Anemia |
|
Thomsen Disease
|
|
Myotonia Congenita
|
|
|
Thrombocytopaenia Type 1 |
|
TTP1 |
|
|
Thrombocytopaenia Type 2 |
|
TTP2 |
|
Thymidine Phosphorylase Deficiency
|
|
TP
Deficiency |
|
Thyroglobulin Gene Defects
|
|
Tg
Gene Defects |
|
Thyroperoxidase Gene Defects
|
|
TPO
Gene Defects |
|
Timothy Syndrome
|
|
Long
QT Syndrome with Syndactyly |
|
|
Tourette Syndrome |
|
Habit Spasms |
|
Transcobalamin I Deficiency
|
|
R Binder Deficiency |
|
Transcobalamin II Deficiency
|
|
TC II Deficiency |
|
Translocation of Chromosome 6
|
|
Ring 6, Chromosome |
|
Trehalase Deficiency
|
|
|
|
Trichothiodystrophy
|
|
Tay Syndrome |
|
Trifunctional Protein Deficiency
|
|
Mitochondrial
Trifunctional Protein Deficiency |
|
Trihydroxycholestanoic Acidaemia
|
|
Trihydroxycholestanoyl-CoA Oxidase Deficiency |
|
Trimethylaminuria Syndrome
|
|
Fish Odour Syndrome |
|
Triosephosphate Isomerase Deficiency
|
|
TPI /
Isomerase Deficiency
|
|
|
Triple X
Syndrome |
|
Trisomy X |
|
|
Trisomies |
|
Chromosomal Triplication |
|
|
Tuberous Sclerosis |
|
Pringle's Disease |
|
Tumoral Calcinosis
|
|
Calcium Gout |
|
Turner Syndrome
|
|
Gonadal Dysgenesis |
|
Tyrosinaemia Type 1
|
|
Congenital Tyrosinosis |
|
Tyrosinaemia Type 2
|
|
Richner-Hanhart Syndrome |
|
Tyrosinaemia Type 3
|
|
4HPPD |
|
|
Tyrosine Hydroxylase Deficiency |
|
TH
Deficiency |
