The Monarch Initiative is a large scale bioinformatics web resource focused on leveraging existing

biomedical Biomedicine (also referred to as Western medicine, mainstream medicine or conventional medicine)

genotypes The genotype of an organism is its complete set of genetic material. Genotype can also be used to refer to the alleles or variants an individual carries in a particular gene or genetic location. The number of alleles an individual can have in a ...

with

phenotypes In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology (physical form and structure), its developmental processes, its biochemical and physiological properti ...

in an effort to aid research that combats

genetic diseases A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are ...

. Monarch does this by integrating multi-species

genotype The genotype of an organism is its complete set of genetic material. Genotype can also be used to refer to the alleles or variants an individual carries in a particular gene or genetic location. The number of alleles an individual can have in a ...

phenotype In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology (physical form and structure), its developmental processes, its biochemical and physiological propert ...

genetic variant Genetic variant may refer to: * Single-nucleotide polymorphism (SNP), in a case it is a common genetic variant * Mutation, in a case where it is a rare genetic variant * Copy-number variation * Variant (biology) See also * Genetic variation (disam ...

and

disease A disease is a particular abnormal condition that adversely affects the structure or function (biology), function of all or part of an organism and is not immediately due to any external injury. Diseases are often known to be medical condi ...

knowledge from various existing biomedical data resources into a centralized and structured database. While this integration process has been traditionally done manually by basic researchers and clinicians on a case-by-case basis, The Monarch Initiative provides an aggregated and structured collection of data and tools that make biomedical knowledge exploration more efficient and effective.

Mondo ontology

Mondo ontology
is product of the Monarch Initiative and provides harmonized disease content for diseases and disorders, both rare and common. The rare disease subset has been published with >10.5 rare diseases, and is maintained by the community.

References

External links

Mouse Genome Informatics

Zebrafish Information Network

WormBase database of nematode biology

FlyBase

International Mouse Phenotyping Consortium

Mouse Phenome Database

Online Mendelian Inheritance in Animals

ClinVar

Mendelian Inheritance in Man

ORPHANET

Protein ANalysis THrough Evolutionary Relationships Classification System

Coriell Institute for Medical Research

Comparative Toxicogenomics Database

Human Phenotype Ontology

Kyoto Encyclopedia of Genes and Genomes

MyGene.info

National Center for Biotechnology Information

BioGRID

GWAS Catalog

AnimalQTLdb

Ensembl database of automatically annotated genomic data

Gene Ontology Database

Gene Reviews

HUGO Gene Nomenclature Committee

Mutant Mouse Resource and Research Centers

Reactome - a curated knowledgebase of biological pathways

Undiagnosed Diseases Program (UDP)

STRING
Biological databases Ontology (information science) {{Biodatabase-stub