This help document answers the following questions:

• What is the Human Disease Vocabulary and what can I use it to find?
• How is the Human Disease Vocabulary organized?
• What can I use the Human Disease Vocabulary Browser to find?
• How do I get the details about diseases with mouse models?
• How do I interpret a Human Disease and Mouse Model Detail report?

See also:

• Using the Phenotypes, Alleles, and Disease Models Query Form
• MGI Glossary for unfamiliar terms (or for how MGI defines specific terms) and acronyms.

What is the Human Disease Vocabulary and what can I use to find?

The Human Disease Vocabulary is a catalog of human genetic disorders from the Online Mendelian Inheritance in Man (OMIM) database. Use the vocabulary browser to search for potential mouse models of human diseases.

How is the Human Disease Vocabulary organized?

The Vocabulary has a flat structure and is organized alphanumerically (A-Z; 0-9). When you click any letter of the alphabet, a list of all (OMIM) diseases or syndromes beginning with that letter appears, arranged alphabetically. When you click 0-9, one list appears, containing all (OMIM) diseases beginning with a number (e.g., 6-pyruvoyltetrahydropterin Synthase; PTS). The number of mouse models in MGI appears in parentheses next to each disease name. The absence of this text, e.g., (3 mouse models), means that MGI currently contains no models for this disease. However, if a mouse has been shown NOT to be a model of a human disease, this is not listed here.

What can I use the Vocabulary Browser to find?

You can use the vocabulary browser to find potential mouse models of human diseases. To do this, click either the desired letter of the alphabet or the numerals 0-9. Terms are arranged alphanumerically.

How do I get the details about diseases with mouse models?

1. Click a letter or number. A list of diseases beginning with that letter or number appears.
2. Click a disease or syndrome on the list. If MGI has mouse models for that disease, this information appears in parentheses beside the disease name, and clicking the accession ID number will take you to the OMIM disease detail report. (The absence of this text, e.g., (3 mouse models), means that MGI currently contains no models for this disease. However, if a mouse has been shown NOT to be a model of a human disease, this is not listed here.)
3. From the Human Disease and Mouse Model Detail report, you can click links to find additional MGI resources. (See Interpreting a Human Disease and Mouse Model Detail Report.)

How do I interpret Human Disease and Mouse Model Details?

See Interpreting Human Disease and Mouse Model Details.

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