Copyright OpenHelix. No use or reproduction without express written consent1

Version 1 Copyright OpenHelix. No use or reproduction without express written consent 2 An Online Catalog of Human Genes & Genetic Disorders Materials prepared by: Jennifer Williams, Ph.D. OMIM : Online Mendelian Inheritance in Man ® ®

Copyright OpenHelix. No use or reproduction without express written consent3 OMIM database: OMIM Agenda Introduction & Credits Basic Search Phenotype Results Gene Results Gene Map Information Advanced Search Additional Features Summary Exercises

Copyright OpenHelix. No use or reproduction without express written consent4 OMIM: More than you might think Full-text summaries of a gene or phenotype Clinical Synopsis of Disease New Face of OMIM is at omim.org

Copyright OpenHelix. No use or reproduction without express written consent5 OMIM Homepage & Credits: omim.org

click Copyright OpenHelix. No use or reproduction without express written consent6 OMIM Scope and History

Copyright OpenHelix. No use or reproduction without express written consent7 OMIM Statistics

Copyright OpenHelix. No use or reproduction without express written consent8 OMIM Content: Scope of Phenotypes OMIM Focuses On: Single-gene mendelian disease/disorders/phenotypes (including: cystic fibrosis, sickle cell anemia, achondroplasia, phenotypic traits such as hair and eye color, susceptibility to drug reaction as in malignant hyperthermia and warfarin sensitivity, altered reaction to infection such as herpes simplex encephalitis and progression to AIDS in HIV infection, germline susceptibilities to cancer such as BRCA1 and breast/ovarian cancer, etc.) Complex diseases with significant single gene contribution (such as: complement factor H and age related macular degeneration) Descriptions of recurrent deletion and duplication syndromes (e.g., Potocki-Shaffer syndrome, and chromosome 10q26 deletion syndrome)

Copyright OpenHelix. No use or reproduction without express written consent9 OMIM Disclaimer NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions. This tutorial is not a substitute for medical training

Copyright OpenHelix. No use or reproduction without express written consent10 OMIM Homepage Tabs Clear, concise documentation from OMIM

Copyright OpenHelix. No use or reproduction without express written consent11 OMIM database: OMIM Agenda Introduction & Credits Basic Search Phenotype Results Gene Results Gene Map Information Advanced Search Additional Features Summary Exercises

Copyright OpenHelix. No use or reproduction without express written consent12 Basic Search spinocerebellar ataxia examples

Basic Search Results Copyright OpenHelix. No use or reproduction without express written consent13 highlight Click to open

Clinical Synopses Results Copyright OpenHelix. No use or reproduction without express written consent14

Basic Search Results, cont. Copyright OpenHelix. No use or reproduction without express written consent15 Thesaurus options

Matching Terms Copyright OpenHelix. No use or reproduction without express written consent16 Matching terms one term

Basic Search Results: Links Copyright OpenHelix. No use or reproduction without express written consent17

Result Displays: MIM Numbers, etc. Copyright OpenHelix. No use or reproduction without express written consent18 click

Copyright OpenHelix. No use or reproduction without express written consent19 OMIM database: OMIM Agenda Introduction & Credits Basic Search Phenotype Results Gene Results Gene Map Information Advanced Search Additional Features Summary Exercises

Phenotype Entry, Top Copyright OpenHelix. No use or reproduction without express written consent20 Full entry Expandable TOC Expandable links

Phenotype Gene Relationships Area Copyright OpenHelix. No use or reproduction without express written consent21 Gene Map Phenotype Entry Gene Entry

click Phenotypic Series Copyright OpenHelix. No use or reproduction without express written consent22 Similar phenotypes Phenotypic Series Different genetic locations A quick view of similar phenotypes across the genome

click Clinical Synopsis Copyright OpenHelix. No use or reproduction without express written consent23 Clinical Synopsis Provides an overview of the clinical features of a phenotype

Associated Gene/Locus Copyright OpenHelix. No use or reproduction without express written consent24 click

Copyright OpenHelix. No use or reproduction without express written consent25 OMIM database: OMIM Agenda Introduction & Credits Basic Search Phenotype Results Gene Results Gene Map Information Advanced Search Additional Features Summary Exercises

Copyright OpenHelix. No use or reproduction without express written consent26 OMIM Gene Entry Expandable TOC Full entry

Copyright OpenHelix. No use or reproduction without express written consent27 Allelic Variation Table View of Allelic Variants Expandable TOC Gene CFTR’s Table View

Copyright OpenHelix. No use or reproduction without express written consent28 External Links for Genes: Genome by OpenHelix External Links

Copyright OpenHelix. No use or reproduction without express written consent29 External Links for Genes: Gene Info Expandable TOC

Copyright OpenHelix. No use or reproduction without express written consent30 OMIM database: OMIM Agenda Introduction & Credits Basic Search Phenotype Results Gene Results Gene Map Information Advanced Search Additional Features Summary Exercises

Copyright OpenHelix. No use or reproduction without express written consent31 Gene Map Search Easy access to Gene Map search

Copyright OpenHelix. No use or reproduction without express written consent32 Gene Map Search Form Example searches: 1p36 kinase CFTR etc. Search tips Search limits

Copyright OpenHelix. No use or reproduction without express written consent33 Gene Map Search Results Gene Map Important to Note

Copyright OpenHelix. No use or reproduction without express written consent34 OMIM database: OMIM Agenda Introduction & Credits Basic Search Phenotype Results Gene Results Gene Map Information Advanced Search Additional Features Summary Exercises

Copyright OpenHelix. No use or reproduction without express written consent35 Advanced Search form click

Copyright OpenHelix. No use or reproduction without express written consent36 Advanced Search form Keyword(s) Search limits Display options

Copyright OpenHelix. No use or reproduction without express written consent37 Advanced Search form

Copyright OpenHelix. No use or reproduction without express written consent38 OMIM database: OMIM Agenda Introduction & Credits Basic Search Phenotype Results Gene Results Gene Map Information Advanced Search Additional Features Summary Exercises

Copyright OpenHelix. No use or reproduction without express written consent39 OMIM Homepage Tabs I accept API Help

Copyright OpenHelix. No use or reproduction without express written consent40 OMIM Homepage Tabs, cont.

Copyright OpenHelix. No use or reproduction without express written consent41 Getting to OMIM from Elsewhere: UCSC Browser OMIM

Copyright OpenHelix. No use or reproduction without express written consent42 Get to OMIM from Elsewhere: NCBI and Others

Copyright OpenHelix. No use or reproduction without express written consent43 OMIM App: Access from a Publication Links to OMIM entry

Copyright OpenHelix. No use or reproduction without express written consent44 OMIM database: OMIM Agenda Introduction & Credits Basic Search Phenotype Results Gene Results Gene Map Information Advanced Search Additional Features Summary Exercises

Copyright OpenHelix. No use or reproduction without express written consent45 OMIM Summary: Scope and History OMIM = Thousands of Entries

Copyright OpenHelix. No use or reproduction without express written consent46 OMIM Summary: Many Entry Points Keyword(s) OMIM SciVerse App to OMIM entry

Detailed Entries Gene Map Phenotypic Series Clinical Synopsis Copyright OpenHelix. No use or reproduction without express written consent47 OMIM Summary: Gene, Variant & Phenotype Data

Copyright OpenHelix. No use or reproduction without express written consent48 OMIM Summary: Data, cont. Table of Allelic Variants OMIM - Rich Source of Gene and Phenotype Data Links to external sources OMIM database:

Copyright OpenHelix. No use or reproduction without express written consent49 OMIM database: OMIM Agenda Introduction & Credits Basic Search Phenotype Results Gene Results Gene Map Information Advanced Search Additional Features Summary Exercises

Copyright OpenHelix. No use or reproduction without express written consent50