Instructions for querying the catalogue

The catalogue can be queried at different linked levels.

"Biobank collections" gathers the pathologies according to Scriver el al. classification (Scriver CR, Beaudet AL, Sly WE, Valle D, editors. The metabolic and molecular bases of inherited disease, 8th ed. New York: Mc Graw-Hill).

"Diagnosis list" details the list of the pathologies with respective OMIM numbers as well as the availability of the stored samples.

By selecting a specific disease from the "Diagnosis list", access is enabled to the second level, "Sample list", where the availability of all samples for that specific disease is detailed.

The selection of a specific sample activates the third level, "Sample characteristics page", where further details concerning that sample are available.

Other links are possible (e.g. Online Mendelian Inheritance in Man, PubMed Service of National Library of Medicine…..).

Search Fields-Glossary

Code number
Unique number assigned to each specimen in the Biobank
MIM number
Number assigned to a disease in the standard reference Mendelian Inheritance in Man
ORPHA code
Number assigned to a disease by Orpha.net (the portal for rare diseases and orphan drugs)
ICD-10 number
Number assigned to a disease in the standard reference International Classification of Diseases
Sample type
Type of sample available, e.g., lymphoblast, fibroblast
Phenotype
Affected - apparently non affected
Other samples
Availability of other samples from the same donor
Status
Proband or relative
Family number
Number linking all the members of a family
Relationship to proband
Relationship between the donor and the proband
Reference
Scientific reports mentioning/using the sample