OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an Online catalog of human genes and genetic disorders

Nucleic Acids Research

Volumn 43, Issue D1, 2015, Pages D789-D798

  Amberger, Joanna S ^a   Bocchini, Carol A ^a   Schiettecatte, François ^b   Scott, Alan F ^a   Hamosh, Ada ^a  

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

^b FS Consulting   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL DATA REPOSITORY; GENE MAPPING; GENETIC DISORDER; GENETIC HETEROGENEITY; GENOTYPE PHENOTYPE CORRELATION; INFORMATION RETRIEVAL; INFORMATION SERVICE; INTERNET; PHENOTYPE; PRIORITY JOURNAL; SEARCH ENGINE; GENE; GENETIC DATABASE; GENETICS; HUMAN;

DATABASES, GENETIC; GENES; GENETIC DISEASES, INBORN; HUMANS; INTERNET; PHENOTYPE;

EID: 84946081339     PISSN: 03051048     EISSN: 13624962     Source Type: Journal    
DOI: 10.1093/nar/gku1205     Document Type: Article

References (13)

1. McKusick, V. A. (1998) Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders, 12th edn. Johns Hopkins University Press, Baltimore.
2. NCBI Resource Coordinators. (2014) Database resources of the National Center for Biotechnology Information. Nucleic Acids Res., 42, D7-D17.
3. Cornet, R. and de Keizer, N. (2008) Forty years of SNOMED: a literature review. BMC Med. Inform. Decis. Mak., 8(Suppl. 1), S2.
4. Cornet, R. (2009) Definitions and qualifiers in SNOMED CT. Methods Inf. Med., 48, 178-183.
5. Bodenreider, O. (2004) The Unified Medical Language System (UMLS): integrating biomedical terminology. Nucleic Acids Res., 32, D267-D270.
6. Köhler, S., Doelken, S. C, Mungall, CJ., Bauer, S., Firth, H. V, Bailleul-Forestier, I., Black, G. C., Brown, DL., Brudno, M., Campbell, J. et al. (2014) The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res., 42, D966-D974.
7. Allanson, J. E., Biesecker, L. G., Carey, J. C and Hennekam, R. C (2009) Elements of morphology: introduction. Am. J. Med. Genet. Part A, 149, 2-5.
8. Landrum, M. J., Lee, J. M., Riley, G. R., Jang, W., Rubinstein, W. S., Church, D. M. and Maglott, D. R. (2014) ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res., 42, D980-D985.
9. ®). Hum. Mutat., 32, 564-567.
10. Singleton, M. V, Guthery, S. L., Voelkerding, K. V, Chen, K., Kennedy, B., Margraf, R. L., Durtschi, J., Eilbeck, K., Reese, M. G, Jorde, L. B. et al. (2014) Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families. Am. J. Hum. Genet., 94, 599-610.
11. Smedley, D., Köhler, S., Czeschik, J. C., Amberger, J., Bocchini, C, Hamosh, A., Veldboer, J., Zemojtel, T and Robinson, PN (2014) Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases., Bioinformatics, 30, 3215-3222.
12. Hamosh, A., Sobreira, N, Hoover-Fong, J., Sutton, V. R., Boehm, C, Schiettecatte, F. and Valle, D (2013) PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features. Hum. Mutat., 34, 566-571.
13. Wierenga, K. J., Jiang, Z., Yang, A. C, Mulvihill, J. J. and Tsinoremas, NF. (2013) A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents. Genet. Med, 15, 354-360.