List of diseases

The List of diseases starting with a non-letter is part of the complete list of diseases.

• 11 beta hydroxylase deficiency
• 10q Partial trisomy, rare (NIH) ^[1]
• 11 beta hydroxysteroid dehydrogenase type 2 deficiency
• 17 alpha hydroxylase deficiency
• 17 beta hydroxysteroide dehydrogenase deficiency
• 17 Beta-hydroxysteroid dehydrogenase deficiency, rare (NIH)
• 18-Hydroxylase deficiency, rare (NIH)
• 18p syndrome, rare (NIH)
• 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
• 3 methylcrotonic aciduria
• 3 methylglutaconyl coa hydratase deficiency
• 3-hydroxy 3-methyl glutaryl-coa lyase deficiency
• 3-hydroxyacyl-coa dehydrogenase deficiency
• 3-Hydroxyisobutyric aciduria, rare (NIH)
• 3-methyl crotonyl-coa carboxylase deficiency
• 3-methyl glutaconic aciduria
• 3c syndrome
• 3C syndrome, rare (NIH)
• 3m syndrome
• 3M syndrome, rare (NIH)
• 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency, rare (NIH)
• 4-hydroxyphenylacetic aciduria, rare (NIH), Optic atrophy, [1]
• 46 xx gonadal dysgenesis epibulbar dermoid
• 46,XX Gonadal dysgenesis epibulbar dermoid, rare (NIH)
• 47 XXY syndrome
• 47 xyy syndrome
• 47 XYY syndrome, rare (NIH), see Klinefelter's syndrome
• 47,XXX syndrome, rare (NIH) , see Klinefelter's syndrome
• 48 xxxx syndrome
• 48 xxyy syndrome
• 49 xxxxx syndrome
• 49 xxxxy syndrome
• 49,XXXXX syndrome, rare (NIH) , see Klinefelter's syndrome
• 49,XXXXY syndrome, rare (NIH) , see Klinefelter's syndrome
• 5 alpha reductase 2 deficiency
• 5-alpha-Oxoprolinase deficiency, rare (NIH)
• 5-Nucleotidase syndrome, rare (NIH)
• 5q-syndrome, rare (NIH)
• 6 alpha mercaptopurine sensitivity, rare (NIH)
• 6-pyruvoyl-tetrahydropterin synthase deficiency, rare (NIH)
• 6-pyruvoyltetrahydropterin synthase deficiency
• 7-dehydrocholesterol reductase deficiency

References

1. ^ A rare disease (occurrence fewer than 1 case for 200,000) according to the public domain Rare Diseases Terms of the United States National Institute of Health