• Blog
  • Calendar
  • Clinical
  • Contact
  • Events
    • Categories
    • Locations
    • My Bookings
    • Tags
  • GBrowse
  • Genesis
  • Home
  • Issue Entry
  • JS Support Ticket
  • MSeqDR PhenoTips
  • MSeqDR-LSDB
  • Our Team
  • Phenome
  • Search Issues
  • Site map
  • Submission
  • Tools
MSeqDR- the Mitochondrial Disease Sequence Data Resource ConsortiumMSeqDR – Mitochondrial disease diagnosis with new technology
  • Home
    • Team
    • Contact
    • Site map
    • Genesis
  • GBrowse
  • MSeqDR-LSDB
  • Tools
    • Events
    • Calendar
    • mtDNA Expert Panel
  • Phenome
  • Clinical
  • Submission
  • MSeqDR PhenoTips
  • Blog
Menu
  • Home
    • Team
    • Contact
    • Site map
    • Genesis
  • GBrowse
  • MSeqDR-LSDB
  • Tools
    • Events
    • Calendar
    • mtDNA Expert Panel
  • Phenome
  • Clinical
  • Submission
  • MSeqDR PhenoTips
  • Blog
  • 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

    Leave a Reply Cancel reply

    You must be logged in to post a comment.

Recent Posts

  • Preclinical Study Shows Combination of Vitamins, Supplements May Benefit Mitochondrial Disease
  • gnoMAD shares mtDNA variant data from 56,434 whole genome samples
  • mvTool v.6: The mtDNA variant reference based on 316,530 whole genome sequences
  • MSeqDR is migrated to a new webserver at CHLA
  • International Research Team Develops Consensus Variant Classification Guidelines for Genomic Variants in Mitochondrial DNA
  • mvTool v.5: New report layout and new mtDNA variant data from 200,000 healthy people
  • 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

Pages

  • Blog
  • Calendar
  • Clinical
  • Contact
  • Events
    • Categories
    • Locations
    • My Bookings
    • Tags
  • GBrowse
  • Genesis
  • Home
  • Issue Entry
  • JS Support Ticket
  • MSeqDR PhenoTips
  • MSeqDR-LSDB
  • Our Team
  • Phenome
  • Search Issues
  • Site map
  • Submission
  • Tools

Tag Cloud

Recent Posts

  • Preclinical Study Shows Combination of Vitamins, Supplements May Benefit Mitochondrial Disease
  • gnoMAD shares mtDNA variant data from 56,434 whole genome samples
  • mvTool v.6: The mtDNA variant reference based on 316,530 whole genome sequences
  • MSeqDR is migrated to a new webserver at CHLA
  • International Research Team Develops Consensus Variant Classification Guidelines for Genomic Variants in Mitochondrial DNA
  • mvTool v.5: New report layout and new mtDNA variant data from 200,000 healthy people
  • 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

Tag Cloud

Pages

  • Blog
  • Calendar
  • Clinical
  • Contact
  • Events
    • Categories
    • Locations
    • My Bookings
    • Tags
  • GBrowse
  • Genesis
  • Home
  • Issue Entry
  • JS Support Ticket
  • MSeqDR PhenoTips
  • MSeqDR-LSDB
  • Our Team
  • Phenome
  • Search Issues
  • Site map
  • Submission
  • Tools

Search

Copyright © 2016 MSeqDR: the Mitochondrial Disease Sequence Data Resource Consortium Theme created by PWT. Powered by WordPress.org