U.S. Department of Health & Human Services

Biospecimens/Biorepositories: Rare Disease Hub (RD-HUB)

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Please note: Rare diseases are labeled with an asterisk (*) and are linked to disease-specific information Web pages created by the Genetic and Rare Diseases Information Center (GARD). Non-contributing biorepositories and biospecimens not yet available are grayed out or unselectable.

All Diseases | Normal Or: OMIM Number

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All Diseases

Diseases without specimens

10q partial trisomy*
11-beta-hydroxylase deficiency*
15q13.3 microdeletion syndrome*
16p11.2 deletion syndrome*
17-alpha-hydroxylase deficiency*
17-beta hydroxysteroid dehydrogenase 3 deficiency*
17q21.31 microdeletion syndrome*
18 Hydroxylase deficiency*
1p36.33 deletion*
2,4-Dienoyl-CoA reductase deficiency*
2-hydroxyethyl methacrylate sensitization*
2-Hydroxyglutaric aciduria*
2-methyl-3-hydroxybutyric aciduria*
2-Methylacetoacetyl CoA thiolase deficiency*
2-methylbutyryl-CoA dehydrogenase deficiency*
22q11.2 deletion syndrome*
22q11.2 duplication syndrome*
22q13.3 deletion syndrome*
3 alpha methylcrotonyl-CoA carboxylase 2 deficiency*
3 Methylcrotonyl-CoA carboxylase 1 deficiency*
3 methylglutaconic aciduria type I*
3 methylglutaconic aciduria type IV*
3 methylglutaconic aciduria type V*
3-alpha hydroxyacyl-CoA dehydrogenase deficiency*
3-beta-hydroxysteroid dehydrogenase deficiency*
3-Hydroxyisobutyric aciduria*
3-methylglutaconic aciduria type III*
3p deletion syndrome*
4-hydroxyphenylacetic aciduria*
46,XX Gonadal dysgenesis epibulbar dermoid*
46,XX testicular disorder of sex development*
47 XXX syndrome*
47, XYY syndrome*
49,XXXXX syndrome*
5-Nucleotidase syndrome*
5-oxoprolinase deficiency*
5q- syndrome*
6 alpha mercaptopurine sensitivity*
6-pyruvoyl-tetrahydropterin synthase deficiency*
8p23.1 duplication syndrome*

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