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Von Willebrand disease
VWF
Von Willebrand disease type 1
,
Von Willebrand disease type 2A
,
Von Willebrand disease type 2M
,
Von Willebrand disease type 2B
,
Von Willebrand disease type 2N
,
Von Willebrand disease type 3
Centrum Medische Genetica - UZ Antwerpen
Dihydropyrimidine dehydrogenase deficiency (5-fluorouracil (5-FU) toxicity) - Pharmacogenetics
DPYD
5-fluorouracil toxicity
,
Dihydropyrimidine dehydrogenase deficiency
Centre de Génétique Humaine - CHU Sart-Tilman
Dihydropyrimidine dehydrogenase deficiency; 5-fluorouracil toxicity - pharmacogenetics (4 variants: DPYD*2A, DPYD*13, c.2846A>T, HapB3) - Pharmacogenetics
DPYD
Dihydropyrimidine dehydrogenase deficiency
Centrum Medische Genetica - UZ Gent
Dihydropyrimidine dehydrogenase deficiency/5-fluorouracil toxicity - Pharmacogenetics (4 variants: DPYD*2A, DPYD*13, c.2846A>T, HapB3)
DPYD
Dihydropyrimidine dehydrogenase deficiency
Centrum Menselijke Erfelijkheid - KUL
Enzymatic dosage Pompe disease
Glycogen storage disease due to acid maltase deficiency
,
Glycogen storage disease due to acid maltase deficiency, infantile onset
,
Glycogen storage disease due to acid maltase deficiency, late-onset
Centrum Medische Genetica - UZ Brussel VUB
Pompe disease, Glycogen storage disease II (GAA gene)
GAA
Glycogen storage disease due to acid maltase deficiency, infantile onset
,
Glycogen storage disease due to acid maltase deficiency, late-onset
Centrum Medische Genetica - UZ Brussel VUB
Achondrogenesis / Kniest dysplasia / Hypochondrogenesis
COL2A1
Achondrogenesis type 2
,
Hypochondrogenesis
,
Kniest dysplasia
,
Multiple epiphyseal dysplasia, Beighton type
,
Spondyloepiphyseal dysplasia congenita
,
Stickler syndrome type 1
Centrum Medische Genetica - UZ Gent
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