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399 Open 3,417 Closed
399 Open 3,417 Closed
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Issues list

Create GH Action to automatically create a ticket for "Week 3" pipeline runs
#8787 opened Feb 25, 2025 by twhetzel
@twhetzel
[NTR/gene] BMP4-related ocular growth disorder New term request
#8786 opened Feb 25, 2025 by peastc
Request for new term [TOR1AIP1-related multisystem disorder] New term request
#8785 opened Feb 25, 2025 by clauseMDM
@nicolevasilevsky
Request for new term [TOR1AIP1-related nuclear envelopathy] New term request
#8784 opened Feb 25, 2025 by clauseMDM
[NTR/gene] ClinGen FAT4-related neurodevelopmental disorder New term request
#8778 opened Feb 24, 2025 by ekendall2
@nicolevasilevsky
[NTR/gene] ALPL-related dominant negative hypophosphatasia New term request
#8777 opened Feb 24, 2025 by RyanFWebb
@nicolevasilevsky
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
#8763 opened Feb 21, 2025 by RyanFWebb
@nicolevasilevsky
[NTR/gene] FGFR3-related thanatophoric dysplasia New term request
#8762 opened Feb 21, 2025 by RyanFWebb
@nicolevasilevsky
COL1A2-related Ehlers-Danlos syndrome, cardiac valvular type relabel term
#8761 opened Feb 21, 2025 by RyanFWebb
@nicolevasilevsky
[NTR/gene] COL1A2-related Ehlers-Danlos syndrome New term request
#8760 opened Feb 21, 2025 by RyanFWebb
@nicolevasilevsky
[NTR/gene] COL1A1-related Ehlers-Danlos syndrome New term request
#8759 opened Feb 21, 2025 by RyanFWebb
@nicolevasilevsky
[NTR/gene] COL1A1-related osteogenesis imperfecta New term request
#8758 opened Feb 21, 2025 by RyanFWebb
@nicolevasilevsky
[NTR/gene] COL1A2-related osteogenesis imperfecta New term request
#8757 opened Feb 21, 2025 by RyanFWebb
@nicolevasilevsky
2
[NTR/gene] ALPL-related loss-of-function hypophosphatasia blocked Something needs to be done before work can proceed New term request question-ClinGen
#8755 opened Feb 21, 2025 by RyanFWebb
@nicolevasilevsky
1
[NTR/gene] COMP-related skeletal dysplasia New term request
#8754 opened Feb 21, 2025 by RyanFWebb
@nicolevasilevsky
[NTR/gene] SLC26A2-related skeletal dysplasia New term request
#8753 opened Feb 21, 2025 by RyanFWebb
@nicolevasilevsky
add disjoint union of to disease characteristics
#8750 opened Feb 20, 2025 by nicolevasilevsky
1
@nicolevasilevsky
Request for new synonym [THG1L-Related Autosomal Recessive Congenital Cerebellar Ataxia] synonym
#8747 opened Feb 19, 2025 by galyea123
Update xrefs on MONDO:0006547 exanthem xref
#8744 opened Feb 19, 2025 by twhetzel
Add OMIM SubclassOf axioms
#8736 opened Feb 18, 2025 by twhetzel
2
@twhetzel
[NTR/gene] OFD1-related ciliopathy New term request
#8728 opened Feb 17, 2025 by mafaldacst
@nicolevasilevsky @StephanieMarsh
Check all mappings for dangling pointers
#8727 opened Feb 15, 2025 by cmungall
@twhetzel
[Obsolete] MONDO:0015547 hereditary dementia obsolete This includes both obsolete and merge requests on list Added to the obosletion or merge candidate list.
#8726 opened Feb 15, 2025 by nicolevasilevsky
@nicolevasilevsky
[Obsolete] all the OMIM susceptibilities obsolete This includes both obsolete and merge requests on list Added to the obosletion or merge candidate list.
#8725 opened Feb 15, 2025 by nicolevasilevsky
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