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Mondo Disease Ontology is coming to MSeqDR, Disease Portal received more disease entries
October 1, 2019 Dr. Lishuang SHEN 0
The Mondo Disease Ontology is being added to MSeqDR data back-end.
We are adding Mondo-based disease browser and phenotype data search tools.
The beta version of Mondo-based disease browser: https://mseqdr.org/mondo.php . Please try out and feedback.
Mondo Disease Ontology:
The Mondo Disease Ontology (Mondo) aims to harmonize disease definitions across the world. It is a semi-automatically constructed ontology that merges in multiple disease resources to yield a coherent merged ontology.Mondo goes beyond loose xrefs. It curated precise 1:1 equivalence axioms connecting to other resources, validated by OWL reasoning. The cross-referenced disease dictionaries include: OMIM, Orphanet, ICD10, ICD9, EFO, DOID, NCIT.
Disease Portal for mitochondrial diseases received more disease entries
October 1, 2019 Dr. Lishuang SHEN 0
Disease Portal: Mitochondrial diseases in a tree based on MESH and OMIM, for global overview and single disease details. Select a mitochondrial disease entry from the drop-down-list to view the integrated annotations for associated symptoms, genes, and variants. Data represents in-house effort in compiling data from ClinVar, CTDBase, HPO, OMIM. Disease terms increased 10% from 11,865 to 12,988 (CTDBase release of 20190108).
Categories: MSeqDr.org News, updates, media report
MSeqDR to present tutorial workshop for the 5th year at the UMDF Mitochondrial Medicine Symposium Quick-Mitome version 2 with new annotations, workflow, and tutorial
Recent Posts
- Recent publications from MSeqDR supported by the UMDF and NIH grants
- ClinGen / ClinVar – MSeqDR Working Groups & Expert Panels
- ClinGen approved the MSeqDR Consortium mitochondrial DNA Sequence Variant Interpretation (SVI) specifications
- U24 Mitochondrial Diseases Expert Panel is establishing 63 genes’ Leigh Disease associations at ClinGen
- MSeqDr joins FAIRsharing – A curated resource on data and metadata standards
- Quick-Mitome version 2 with new annotations, workflow, and tutorial
- Mondo Disease Ontology is coming to MSeqDR, Disease Portal received more disease entries
- MSeqDR to present tutorial workshop for the 5th year at the UMDF Mitochondrial Medicine Symposium
- mvTool v3: Added variant data from 40,000 people, Asians and Sadinians, meta-AF reference, new single variant report
- Leigh Syndrome Resources at MSeqDR.org