Cited by 421Biomedical Text Mining and OntologiesBioinformatics and Genomic NetworksSemantic Web and Ontologies

The Mammalian Phenotype Ontology as a tool for annotating, analyzing and comparing phenotypic information

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Smith, Cynthia L, Goldsmith, Carroll-Ann W, Eppig, Janan T·2004·Genome Biology

Abstract

The Mammalian Phenotype (MP) Ontology enables robust annotation of mammalian phenotypes in the context of mutations, quantitative trait loci and strains that are used as models of human biology and disease. The MP Ontology supports different levels and richness of phenotypic knowledge and flexible annotations to individual genotypes. It continues to develop dynamically via collaborative input from research groups, mutagenesis consortia, and biological domain experts. The MP Ontology is currently used by the Mouse Genome Database and Rat Genome Database to represent phenotypic data.

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Crossref · 10.1186/gb-2004-6-1-r7

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  • Hep-IDCONNECT transcription factor-encoding genes are linked to abnormal liver phenotypes and metabolic functions, albeit less significantly than Hep-ID transcription factors.

    “mining genes associated with phenotypes from the Mammalian Phenotype Ontology resource (Smith et al, 2005; Chen et al, 2007) revealed that, albeit less significant when compared to Hep‐ID TFs, Hep‐IDCONNECT TF‐encoding genes are linked to abnormal liver phenotypes and metabolic functions (Fig 2G).”

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Authors
Smith, C. L., Goldsmith, C.-A. W., & Eppig, J. T.
Affiliations
  • Jackson Laboratory (US)
  • Massachusetts College of Pharmacy and Health Sciences (US)
Corresponding author
Eppig, Janan T
Venue
Genome Biology
Published
2004-12-15
Volume
6
Issue
1
Pages
R7-R7
ISSN
  • 1465-6906 (ISSN-L)
  • 1474-760X
OpenAlex
W2126434293
Cited by
417
References
22
Citations by year
2026: 6 · 2025: 8 · 2024: 8 · 2023: 8 · 2022: 9 · 2021: 10 · 2020: 17 · 2019: 14 · 2018: 24 · 2017: 14 · 2016: 17 · 2015: 19 · 2014: 30 · 2013: 31 · 2012: 41
FWCI
5.81
Type
journal article
Language
en
Open access
Locations
  • Genome biology (publishedVersion, cc-by)
  • Europe PMC (PubMed Central) (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
  • The Mouseion at the JAXlibrary (Jackson Laboratory) (submittedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Biomedical Text Mining and Ontologies
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Bioinformatics and Genomic Networks
  • Physical Sciences › Computer Science › Artificial Intelligence › Semantic Web and Ontologies
Keywords
Mammalian Phenotype Ontology, phenotype annotation, mouse model, rat model, quantitative trait loci, mutant strain, Mouse Genome Database, Rat Genome Database, disease models
MeSH terms
Animals, Genotype, Humans, Mammals, Mutation, Terminology as Topic, Phenotype, Genome, Vocabulary, Controlled, Computational Biology, Databases, Genetic, Quantitative Trait Loci, Mice, Rats

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