This is a list of diseases starting with a digit.

1–3

• 10q partial trisomy
• 11 beta hydroxylase deficiency
• 11 beta hydroxysteroid dehydrogenase type 2 deficiency
• 17 alpha hydroxylase deficiency
• 17-beta-hydroxysteroid dehydrogenase deficiency, rare (NIH)
• 17q21.31 microdeletion syndrome
• 18-Hydroxylase deficiency, rare (NIH)
• 18p deletion syndrome
• 1p36 deletion syndrome, rare (NIH)
• 2-hydroxyethyl methacrylate sensitization, rare (NIH)
• 2-hydroxyglutaricaciduria
• 2-Hydroxyglutaricaciduria, rare (NIH)
• 2-Methylacetoacetyl CoA thiolase deficiency, rare (NIH)
• 2,8 dihydroxy-adenine urolithiasis
• 21 hydroxylase deficiency
• 22q11.2 deletion syndrome, rare (NIH)
• 3 alpha methylcrotonyl-Coa carboxylase 1 deficiency, rare (NIH)
• 3 alpha methylcrotonyl-coa carboxylase 2 deficiency, rare (NIH)
• 3 alpha methylglutaconic aciduria, type 3, rare (NIH)
• 3 beta hydroxysteroid dehydrogenase deficiency
• 3 hydroxyisobutyric aciduria, rare (NIH)
• 3 methylcrotonic aciduria
• 3 methylglutaconyl coa hydratase deficiency
• 3-hydroxy 3-methyl glutaryl-coa lyase deficiency
• 3-hydroxyacyl-coa dehydrogenase deficiency
• 3-M syndrome, rare (NIH)
• 3-methyl crotonyl-coa carboxylase deficiency
• 3-methyl glutaconic aciduria
• 3C syndrome, rare (NIH)
• 3q29 microdeletion syndrome

4–9

• 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency, rare (NIH)
• 4-hydroxyphenylacetic aciduria, rare (NIH), optic atrophy ^[1]
• 46 xx gonadal dysgenesis epibulbar dermoid, rare (NIH)
• 47, XXY syndrome
• 47, XYY syndrome
• 47, XXX syndrome
• 48, XXXX syndrome
• 48, XXYY syndrome
• 49, XXXXX syndrome
• 49, XXXXY syndrome
• 5 alpha reductase 2 deficiency
• 5-alpha-Oxoprolinase deficiency, rare (NIH)
• 5-Nucleotidase syndrome, rare (NIH)
• 5p minus syndrome
• 5q- syndrome
• 6 alpha mercaptopurine sensitivity, rare (NIH)
• 6-pyruvoyltetrahydropterin synthase deficiency
• 7-dehydrocholesterol reductase deficiency
• 8p23.1 duplication syndrome
• 9q34 deletion syndrome

References