CDC/NIH Web Information Database
Rare Diseases
Last data update: Jan 21, 2025. (Total: 8777 Documents)
CDC/NIH Web Information |
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10q22.3q23 microdeletion syndrome
From NCATS Genetic and Rare Diseases Information Center |
11-beta-hydroxylase deficiency
From NCATS Genetic and Rare Diseases Information Center |
12q14 microdeletion syndrome
From NCATS Genetic and Rare Diseases Information Center |
15q11.2 microdeletion
From NCATS Genetic and Rare Diseases Information Center |
15q13.3 microdeletion syndrome
From NCATS Genetic and Rare Diseases Information Center |
15q13.3 microduplication syndrome
From NCATS Genetic and Rare Diseases Information Center |
15q24 microdeletion syndrome
From NCATS Genetic and Rare Diseases Information Center |
16p11.2 deletion syndrome
From NCATS Genetic and Rare Diseases Information Center |
16p11.2 duplication
From NCATS Genetic and Rare Diseases Information Center |
16p13.11 microduplication syndrome
From NCATS Genetic and Rare Diseases Information Center |
16q24.3 microdeletion syndrome
From NCATS Genetic and Rare Diseases Information Center |
17-alpha-hydroxylase deficiency
From NCATS Genetic and Rare Diseases Information Center |
17-beta hydroxysteroid dehydrogenase 3 deficiency
From NCATS Genetic and Rare Diseases Information Center |
17q12 deletion syndrome
From NCATS Genetic and Rare Diseases Information Center |
17q12 duplication
From NCATS Genetic and Rare Diseases Information Center |
17q23.1q23.2 microdeletion syndrome
From NCATS Genetic and Rare Diseases Information Center |
18 Hydroxylase deficiency
From NCATS Genetic and Rare Diseases Information Center |
19p13.12 microdeletion syndrome
From NCATS Genetic and Rare Diseases Information Center |
1q duplications
From NCATS Genetic and Rare Diseases Information Center |
1q21.1 microdeletion syndrome
From NCATS Genetic and Rare Diseases Information Center |
1q44 microdeletion syndrome
From NCATS Genetic and Rare Diseases Information Center |
2,4-Dienoyl-CoA reductase deficiency
From NCATS Genetic and Rare Diseases Information Center |
2-hydroxyethyl methacrylate sensitization
From NCATS Genetic and Rare Diseases Information Center |
2-Hydroxyglutaric aciduria
From NCATS Genetic and Rare Diseases Information Center |
2-methyl-3-hydroxybutyric aciduria
From NCATS Genetic and Rare Diseases Information Center |
2-Methylacetoacetyl CoA thiolase deficiency
From NCATS Genetic and Rare Diseases Information Center |
2-methylbutyryl-CoA dehydrogenase deficiency
From NCATS Genetic and Rare Diseases Information Center |
20p12.3 microdeletion syndrome
From NCATS Genetic and Rare Diseases Information Center |
21-hydroxylase deficiency
From NCATS Genetic and Rare Diseases Information Center |
22q11.2 deletion syndrome
From NCATS Genetic and Rare Diseases Information Center |