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399 Open 3,427 Closed
399 Open 3,427 Closed
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Issues list

ZNF292-Related Syndrome synonym
#8818 opened Mar 7, 2025 by galyea123
Smushed IRI's with | QC
#8816 opened Mar 6, 2025 by ThomasThelen
@matentzn
Create a report with Mondo general statistics
#8809 opened Mar 4, 2025 by twhetzel
1
@twhetzel
2
Request for new synonym [Add Thymidine Kinase 2 Deficiency to mitochondrial DNA depletion syndrome, myopathic form] synonym user request A request from an external user
#8806 opened Mar 3, 2025 by galyea123
childhood-onset autosomal recessive myopathy with external ophthalmoplegia MONDO:0018206 and myopathy, proximal, and ophthalmoplegia MONDO:0011577 merge on list Added to the obosletion or merge candidate list.
#8804 opened Mar 3, 2025 by galyea123
Add Xrefs to MONDO:0005009 (congestive heart failure) user request A request from an external user xref
#8803 opened Mar 3, 2025 by hibaontoforce
Request for new term intestinal failure–associated liver disease New term request user request A request from an external user
#8797 opened Feb 28, 2025 by EMRutherford
Fix the synonyms of Wolffian adnexal tumor user request A request from an external user
#8791 opened Feb 26, 2025 by galyea123
QC check for cross-species analog non-human animal QC
#8790 opened Feb 26, 2025 by katiermullen
@twhetzel
3
[NTR/gene] BMP4-related ocular growth disorder New term request user request A request from an external user
#8786 opened Feb 25, 2025 by peastc
Request for new term [TOR1AIP1-related multisystem disorder] New term request user request A request from an external user
#8785 opened Feb 25, 2025 by clauseMDM
1
@nicolevasilevsky
Request for new term [TOR1AIP1-related nuclear envelopathy] New term request user request A request from an external user
#8784 opened Feb 25, 2025 by clauseMDM
1
[NTR/gene] ClinGen FAT4-related neurodevelopmental disorder New term request user request A request from an external user
#8778 opened Feb 24, 2025 by ekendall2
1
@nicolevasilevsky
3
[NTR/gene] ALPL-related autosomal dominant hypophosphatasia New term request user request A request from an external user
#8777 opened Feb 24, 2025 by RyanFWebb
@nicolevasilevsky
2
Create a summary table of all source alignment
#8775 opened Feb 24, 2025 by twhetzel
@twhetzel
[NTR/gene] COL2A1-related spondyloepiphyseal dysplasia New term request user request A request from an external user
#8763 opened Feb 21, 2025 by RyanFWebb
1
@nicolevasilevsky
COL1A2-related Ehlers-Danlos syndrome, cardiac valvular type relabel term user request A request from an external user
#8761 opened Feb 21, 2025 by RyanFWebb
1
@nicolevasilevsky
1
[NTR/gene] COL1A2-related Ehlers-Danlos syndrome New term request user request A request from an external user
#8760 opened Feb 21, 2025 by RyanFWebb
1
@nicolevasilevsky
[NTR/gene] COL1A1-related Ehlers-Danlos syndrome New term request user request A request from an external user
#8759 opened Feb 21, 2025 by RyanFWebb
1
@nicolevasilevsky
5
[NTR/gene] COL1A1-related osteogenesis imperfecta New term request user request A request from an external user
#8758 opened Feb 21, 2025 by RyanFWebb
1
@nicolevasilevsky
2
[NTR/gene] COL1A2-related osteogenesis imperfecta New term request user request A request from an external user
#8757 opened Feb 21, 2025 by RyanFWebb
1
@nicolevasilevsky
4
[NTR/gene] ALPL-related autosomal recessive hypophosphatasia blocked Something needs to be done before work can proceed Curation call New term request question-ClinGen user request A request from an external user
#8755 opened Feb 21, 2025 by RyanFWebb
@nicolevasilevsky
3
[NTR/gene] COMP-related skeletal dysplasia New term request user request A request from an external user
#8754 opened Feb 21, 2025 by RyanFWebb
1
@nicolevasilevsky
[NTR/gene] SLC26A2-related skeletal dysplasia New term request user request A request from an external user
#8753 opened Feb 21, 2025 by RyanFWebb
1
@nicolevasilevsky
add disjoint union of to disease characteristics
#8750 opened Feb 20, 2025 by nicolevasilevsky
1
@nicolevasilevsky
ProTip! What’s not been updated in a month: updated:<2025-02-07.