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

McKusick, 1998, Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders, 12th edn, 10.56021/9780801857423

NCBI Resource Coordinators, 2014, Database resources of the National Center for Biotechnology Information, Nucleic Acids Res., 42, D7, 10.1093/nar/gkt1146

Cornet, 2008, Forty years of SNOMED: a literature review, BMC Med. Inform. Decis. Mak., 8, S2, 10.1186/1472-6947-8-S1-S2

Cornet, 2009, Definitions and qualifiers in SNOMED CT, Methods Inf. Med., 48, 178, 10.3414/ME9215

Bodenreider, 2004, The Unified Medical Language System (UMLS): integrating biomedical terminology, Nucleic Acids Res., 32, D267, 10.1093/nar/gkh061

Köhler, 2014, The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data, Nucleic Acids Res., 42, D966, 10.1093/nar/gkt1026

Allanson, 2009, Elements of morphology: introduction, Am. J. Med. Genet. Part A, 149, 2, 10.1002/ajmg.a.32601

Landrum, 2014, ClinVar: public archive of relationships among sequence variation and human phenotype, Nucleic Acids Res., 42, D980, 10.1093/nar/gkt1113

Amberger, 2011, A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®), Hum. Mutat., 32, 564, 10.1002/humu.21466

Singleton, 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, 10.1016/j.ajhg.2014.03.010

Smedley, 2014, Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases, 3215

Hamosh, 2013, PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features, Hum. Mutat., 34, 566, 10.1002/humu.22283

Wierenga, 2013, A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents, Genet. Med., 15, 354, 10.1038/gim.2012.136