This is a Demo Version only. For the full version please contact the authors.

Not contained in the Demo Version: 1. Characterisation of phenotype

In this task students are shown eight pedigrees of families suffering from the same hereditary disorder with clinical information. Students select among several queries (lists of key words) one which best describes the mode of inheritance and the characteristic clinical symptoms of the disorder. The selected query is then used in OMIM search in the next task.

Example pedigree with phenotype information (y, age of tumour onset in years):

2. Diagnosis of genetic disorder

"adrenocortical carcinoma" AND "breast cancer" AND "soft tissue sarcoma" AND osteosarcoma AND "brain tumor" AND "autosomal dominant"

A very well formulated query.

If you enter this query into the search field of the Online Mendelian Inheritance in Man - OMIM database (Johns Hopkins University School of Medicine, Baltimore, MD, USA), the database will return relevant search results. As this query is specific enough, you will get only very few records. This will allow you to find the genetic disorder for which these symptoms are characteristic. You can read more details about the disorder in the OMIM database. Please do not close the OMIM database because you will work with it also in the next task.

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Advanced

Additional information on genetic disorders can also be retrieved from:
GeneReviews - search for any disorder
NCBI Genes and Diseases (both links at the National Center for Biotechnology Information, Bethesda, MD, USA).

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Please enter the full name of the disorder (not only the abbreviation and excluding the 6-digit OMIM number) from the title of the OMIM item into the window below.
Examples of correct answers: "CYSTIC FIBROSIS" or "POLYCYSTIC KIDNEY DISEASE 1" or "DOWN SYNDROME" (without the quotation marks).