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406 Open 3,403 Closed
406 Open 3,403 Closed
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Issues list

[NTR/gene] COL2A1-related spondyloepiphyseal dysplasia New term request
#8763 opened Feb 21, 2025 by RyanFWebb
[NTR/gene] FGFR3-related thanatophoric dysplasia New term request
#8762 opened Feb 21, 2025 by RyanFWebb
COL1A2-related Ehlers-Danlos syndrome, cardiac valvular type relabel term
#8761 opened Feb 21, 2025 by RyanFWebb
[NTR/gene] COL1A2-related Ehlers-Danlos syndrome New term request
#8760 opened Feb 21, 2025 by RyanFWebb
[NTR/gene] COL1A1-related Ehlers-Danlos syndrome New term request
#8759 opened Feb 21, 2025 by RyanFWebb
[NTR/gene] COL1A1-related osteogenesis imperfecta New term request
#8758 opened Feb 21, 2025 by RyanFWebb
[NTR/gene] COL1A2-related osteogenesis imperfecta New term request
#8757 opened Feb 21, 2025 by RyanFWebb
[NTR/gene] ALPL-related hypophosphatasia New term request
#8755 opened Feb 21, 2025 by RyanFWebb
[NTR/gene] COMP-related skeletal dysplasia New term request
#8754 opened Feb 21, 2025 by RyanFWebb
[NTR/gene] SLC26A2-related skeletal dysplasia New term request
#8753 opened Feb 21, 2025 by RyanFWebb
Update header on web site for stats table
#8751 opened Feb 20, 2025 by twhetzel
@twhetzel
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
Mondo gene association missing gene identifier ID bug
#8743 opened Feb 19, 2025 by twhetzel
@katiermullen
1
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
review episodic ataxia classification
#8724 opened Feb 15, 2025 by nicolevasilevsky
1
@nicolevasilevsky
2
Proposal: obsolete 'primary cerebellar degeneration' obsolete This includes both obsolete and merge requests on list Added to the obosletion or merge candidate list.
#8722 opened Feb 15, 2025 by kgcl-change-request
[Obsolete] MONDO:0009826 'PA polymorphism of alpha-2-globulin' obsolete This includes both obsolete and merge requests on list Added to the obosletion or merge candidate list.
#8719 opened Feb 15, 2025 by nicolevasilevsky
indifference to pain, congenital, autosomal dominant and congenital insensitivity to pain syndrome, Marsili type merge
#8711 opened Feb 15, 2025 by galyea123
Request for new synonym [Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation] synonym
#8710 opened Feb 15, 2025 by galyea123
ProTip! Adding no:label will show everything without a label.