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Rare Diseases List
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10q Partial trisomy
17 Beta-hydroxysteroid dehydrogenase deficiency
18-Hydroxylase deficiency
18p syndrome
1p36.33 deletion
2-hydroxyethyl methacrylate sensitization
2-Hydroxyglutaricaciduria
2-Methylacetoacetyl CoA thiolase deficiency
22q11.2 deletion syndrome
3 alpha methylcrotonyl-Coa carboxylase 1 deficiency
3 alpha methylcrotonyl-coa carboxylase 2 deficiency
3 alpha methylglutaconicaciduria, type 3
3-Hydroxyisobutyric aciduria
3C syndrome
3M syndrome
4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency
4-hydroxyphenylacetic aciduria
46,XX Gonadal dysgenesis epibulbar dermoid
47 XYY syndrome
47,XXX syndrome
49,XXXXX syndrome
49,XXXXY syndrome
5-alpha-Oxoprolinase deficiency
5-Nucleotidase syndrome
5q syndrome
6 alpha mercaptopurine sensitivity
6-pyruvoyl-tetrahydropterin synthase deficiency