List of rare diseases-0-9

List of rare diseases 0-9

• 11-beta-hydroxylase deficiency

• 12q14 microdeletion syndrome

• 15q11.2 microdeletion

• 15q13.3 microdeletion syndrome

• 15q13.3 microduplication syndrome

• 15q24 microdeletion syndrome

• 16p11.2 deletion syndrome

• 16p11.2 duplication

• 16p13.11 microduplication syndrome

• 16q24.3 microdeletion syndrome

• 17-alpha-hydroxylase deficiency

• 17-beta hydroxysteroid dehydrogenase 3 deficiency

• 17q12 deletion syndrome

• 17q12 duplication

• 18 Hydroxylase deficiency

• 19p13.12 microdeletion syndrome

• 1q duplications

• 2,4-Dienoyl-CoA reductase deficiency

• phosphoribosyltransferase deficiency

• 20p12.3 microdeletion syndrome

• 22q11.2 deletion syndrome

• 22q11.2 duplication syndrome

• 22q13.3 deletion syndrome

• 2-hydroxyethyl methacrylate sensitization

• 2-Hydroxyglutaric aciduria

• 2-Methylacetoacetyl CoA thiolase deficiency

• 2-methylbutyryl-CoA dehydrogenase deficiency

• 2p15p16.1 microdeletion syndrome

• 2q23.1 microdeletion syndrome

• 3-alpha hydroxyacyl-CoA dehydrogenase deficiency

• 3-Hydroxyisobutyric aciduria

• 3M syndrome

• 3MC syndrome

• 46,XX Gonadal dysgenesis epibulbar dermoid

• 46,XX testicular disorder of sex development

• 47 XXX syndrome

• 47, XXY - not a rare disease

• 47, XYY syndrome

• 49, XXXXY syndrome

• 49, XXXYY syndrome

• 49,XXXXX syndrome

• 5-Nucleotidase syndrome

• 5-oxoprolinase deficiency

• 5q- syndrome

• 7q11.23 duplication syndrome

• 8p inverted duplication/deletion syndrome

• 8p23.1 duplication syndrome

• 8q12 microduplication syndrome

NIH genetic and rare disease info

• NIH info on List of rare diseases-0-9

List of rare diseases-0-9 is a rare disease.