Querying the catalogue

Querying the catalogue

The catalogue can be queried at different linked levels.

"Diagnosis list" details the list of the pathologies with respective MIM, Orphanet and ICD-10 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.
Alternatively, the catalogue can also be queried by configuring a query for some samples’ attributes such as type of sample, gender, phenotype, type of diagnosis.

Search Fields-Glossary

ID
Unique number assigned to each specimen in the Biobank
No. of samples
Total number of samples available
MIM number
Number assigned to a disease in the standard reference Online Mendelian Inheritance in Man
ORPHA number
Number assigned to a disease by Orpha.net (the portal for rare diseases and orphan drugs)
ICD-10 code
Number assigned to a disease in the standard reference International Classification of Diseases
Sample type
Type of sample available, e.g., lymphoblast, fibroblast
Clinical Phenotype
Affected - apparently non-affected
Other samples
Availability of other samples from the same donor
Status
Proband or relative
Family number (when available)
Number linking all the members of a family
Relationship to proband
Relationship between the donor and the proband
Type of diagnosis
Type of diagnosis available