Searching online mendelian inheritance in man (OMIM): A knowledgebase of human genes and genetic phenotypes

Current Protocols in Bioinformatics

Volumn 2017, Issue , 2017, Pages 1.2.1-1.2.12

  Amberger, Joanna S ^a   Hamosh, Ada ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Disease gene discovery; Human genetic disorders; Molecular genetics; OMIM

Indexed keywords

ALLELE; ARTICLE; CLINICAL FEATURE; COMPUTER; GENE; GENETIC DATABASE; GENETIC VARIABILITY; GENOMICS; HUMAN; INTERNET; MOBILE PHONE; ONLINE SYSTEM; PHENOTYPE; PRACTICE GUIDELINE; PRIORITY JOURNAL; WEB BROWSER; BIOLOGY; CHROMOSOMAL MAPPING; KNOWLEDGE BASE; PROCEDURES;

CHROMOSOME MAPPING; COMPUTATIONAL BIOLOGY; DATABASES, GENETIC; HUMANS; KNOWLEDGE BASES; PHENOTYPE;

EID: 85029433513     PISSN: 19343396     EISSN: 1934340X     Source Type: Journal    
DOI: 10.1002/cpbi.27     Document Type: Article

References (5)

1. McKusick, V. A. (1998). Online mendelian inheritance in man: A catalog of human genes and genetic disorders (12th Edn.). Baltimore, MD: Johns Hopkins University Press.
2. Amberger, J., Bocchini, C. A., & Hamosh, A. (2011). A new face and new challenges for Online Mendelian Inheritance in Man (OMIM). Human Mutation, 32, 564-567. Descriptive overview of OMIM content.
3. Amberger, J. S., Bocchini, C. A., Schiettecatte, F., Scott, A. F., & Hamosh, A. (2015). OMIM.org: Online Mendelian Inheritance in Man (OMIM ®), an online catalog of human genes and genetic disorders. Nucleic Acids Research, 43, D789-98. Description of phenotype nosology and genephenotype ascertainment.
4. http://omim.org The OMIM Web site.
5. http://omim.org/help/faq Frequently asked questions (FAQ) about OMIM.