 |
1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | ...21 |
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191290
Tyrosine Hydroxylase; TH |
G24
Dystonia |
101150
Autosomal recessive dopa-responsive dystonia (Tyrosine hydroxylase deficiency) |
2 |
4 |
2 |
garavaglia@istituto-besta.it |
2011-11-15 |
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168600
Parkinson Disease (PD) |
G20
Parkinson Disease |
|
1378 |
1378 |
1378 |
garavaglia@istituto-besta.it |
2011-11-15 |
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|
G24
Dystonia |
|
750 |
750 |
750 |
garavaglia@istituto-besta.it |
2011-11-15 |
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141800/ 141850
Hemoglobin--Alpha Locus 1; HBA1/ Hemoglobin--Alpha Locus 2; HBA2 (variant) |
D58.2
Other haemoglobinopathies |
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1 |
1 |
jvell05@um.edu.mt |
2011-11-15 |
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141749
Fetal Hemoglobin Quantitative Trait Locus 1; HBFQTL1 (cannot be ruled out) |
D56.4
Hereditary persistance of fetal haemoglobin [HPFH] (cannot be ruled out) |
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1 |
1 |
jvell05@um.edu.mt |
2011-11-15 |
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141800/ 141850
Hemoglobin--Alpha Locus 1; HBA1/ Hemoglobin--Alpha Locus 2; HBA2 (variant) |
D58.2
Other haemoglobinopathies |
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2 |
2 |
jvell05@um.edu.mt |
2011-11-15 |
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141900
Hemoglobin--Beta Locus; HBB (thalassaemia) |
D56.3
Thalassaemia trait |
848
Beta-thalassaemia (trait) |
|
1 |
1 |
jvell05@um.edu.mt |
2011-11-15 |
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141900
Hemoglobin--Beta Locus; HBB (variant) |
D58.2
Other haemoglobinopathies |
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2 |
2 |
jvell05@um.edu.mt |
2011-11-15 |
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141900
Hemoglobin -- Beta Locus; HBB (borderline A2) |
D56.3
Thalassaemia trait (borderline A2) |
ORPHA848 (trait)
Beta-Thalassaemia (Trait, borderline A2) |
|
2 |
2 |
jvell05@um.edu.mt |
2011-11-15 |
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141800/ 141850/ 141900
HBA1/ HBA2/ HBB (cannot be ruled out) |
D56.3
Thalassaemia trait (cannot be ruled out) |
98393
Thalassaemia syndrome (cannot be ruled out) |
|
58 |
58 |
jvell05@um.edu.mt |
2011-11-15 |
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141800/ 141850/ 141900
HBA1/ HBA2/ HBB |
D56.3
Thalassaemia trait |
98393
Thalassaemia syndrome |
|
114 |
114 |
jvell05@um.edu.mt |
2011-11-15 |
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603903
Sickle Cell Anemia |
D57.3
Sickle-cell trait |
ORPHA232 (trait)
Sickle cell anaemia (trait) |
|
2 |
2 |
jvell05@um.edu.mt |
2011-11-15 |
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142250
Hemoglobin, Gamma G; HBG2 (variant) |
D58.2
Other haemoglobinopathies |
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8 |
8 |
jvell05@um.edu.mt |
2011-11-15 |
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142250
Hemoglobin, Gamma G; HBG2 (variant) |
D58.2
Other haemoglobinopathies |
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28 |
28 |
jvell05@um.edu.mt |
2011-11-15 |
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231670
Glutaric Acidemia I |
E72.3
Disorders of lysine and hydroxylysine metabolism |
25
Glutaric acidemia type 1 |
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1 |
1 |
jvell05@um.edu.mt |
2011-11-15 |
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141900
Hemoglobin--Beta Locus; HBB (variant) |
D58.2
Other haemoglobinopathies |
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1 |
1 |
jvell05@um.edu.mt |
2011-11-15 |
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141800
Hemoglobin--Alpha Locus 1; HBA1 (variant) |
D58.2
Other haemoglobinopathies |
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4 |
4 |
jvell05@um.edu.mt |
2011-11-15 |
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603903
Sickle Cell Anemia (cannot be ruled out) |
D57.3
Sickle-cell trait (cannot be ruled out) |
ORPHA232 (trait cannot be ruled out)
Sickle cell anaemia (trait cannot be ruled out) |
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1 |
1 |
jvell05@um.edu.mt |
2011-11-15 |
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141900
Hemoglobin -- Beta Locus; HBB (variant) |
D56.3
Thalassaemia trait |
ORPHA848 (trait)
Beta-Thalassaemia (Trait) |
|
1 |
1 |
jvell05@um.edu.mt |
2011-11-15 |
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141800/ 141850
Hemoglobin--Alpha Locus 1; HBA1/ Hemoglobin--Alpha Locus 2; HBA2 (variant) |
D58.2
Other haemoglobinopathies |
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1 |
1 |
jvell05@um.edu.mt |
2011-11-15 |
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N/A
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558 |
0 |
jvell05@um.edu.mt |
2011-11-15 |
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D58.2
Other haemoglobinopathies |
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1 |
1 |
jvell05@um.edu.mt |
2011-11-15 |
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141900
Hemoglobin -- Beta Locus; HBB (absence of beta chain) |
D56.3
Thalassaemia trait |
ORPHA848 (trait)
Beta-Thalassaemia (absence of beta chain) |
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1 |
1 |
jvell05@um.edu.mt |
2011-11-15 |
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261600
Phenylketonuria |
E70.0
Classical phenylketonuria |
716
Phenylketonuria |
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1 |
1 |
jvell05@um.edu.mt |
2011-11-15 |
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P95
Fetal death of unspecified cause |
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1 |
1 |
jvell05@um.edu.mt |
2011-11-15 |
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