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396 Open 3,200 Closed
396 Open 3,200 Closed
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Issues list

Update MEMORY_JAVA setting in run.sh
#8267 opened Oct 23, 2024 by twhetzel
@twhetzel
X-linked syndromic complex neurodevelopmental disorder New term request
#8266 opened Oct 22, 2024 by Jciesielka1
DHX30-related complex neurodevelopmental disorder New term request
#8265 opened Oct 22, 2024 by Jciesielka1
Syn. on MONDO:0016676 recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome bug OMIM question-Orphanet synonym
#8263 opened Oct 22, 2024 by kanems
Familial chylomicronemia syndrome (formerly known as "type 1 hyperlipoproteinemia.") AND familial lipoprotein lipase deficiency
#8259 opened Oct 18, 2024 by galyea123
Review inconsistent synonym scope on MONDO:0007039 'NF2-related schwannomatosis'
#8258 opened Oct 18, 2024 by twhetzel
3 tasks
@twhetzel
[NTR/TFAP2B] New term request
#8256 opened Oct 17, 2024 by elliebroeren
NDUFB11-Related Disorders New term request
#8253 opened Oct 16, 2024 by galyea123
[Revise subclass]MONDO:0014934 'spinocerebellar ataxia, autosomal recessive 24' Revise subclass
#8237 opened Oct 13, 2024 by katiermullen
@katiermullen
Mito GCEP genes user request A request from an external user
#8229 opened Oct 11, 2024 by mccormickem
Review all Mondo terms which are "and/or"
#8228 opened Oct 10, 2024 by sabrinatoro
1
frontotemporal dementia and/or amyotrophic lateral sclerosis user request A request from an external user
#8227 opened Oct 10, 2024 by sabrinatoro
2
[Revise subclass] inflammatory bowel disease 1 MONDO_0009960 too broad? Revise subclass user request A request from an external user
#8226 opened Oct 10, 2024 by Tobi1kenobi
neonatal-onset encephalopathy with rigidity and seizures and neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures epilepsy user request A request from an external user
#8225 opened Oct 9, 2024 by galyea123
@nicolevasilevsky
query proposed obsoletion of MONDO:0024321 | disorder of GPI anchor biosynthesis user request A request from an external user
#8220 opened Oct 2, 2024 by ValWood
@sabrinatoro
2
MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related relabel term user request A request from an external user
#8219 opened Oct 2, 2024 by kanems
corpus callosum, agenesis of MONDO:0009022 user request A request from an external user
#8217 opened Sep 30, 2024 by galyea123
combined oxidative phosphorylation deficiency (MONDO:0000732) definition is truncated user request A request from an external user
#8216 opened Sep 29, 2024 by ValWood
Leigh syndrome queries user request A request from an external user
#8215 opened Sep 29, 2024 by ValWood
MBD4-related recessive tumor predisposition syndrome New term request user request A request from an external user
#8214 opened Sep 27, 2024 by keparis
Double labels for some RO terms at the top of the ontology. bug user request A request from an external user
#8212 opened Sep 27, 2024 by DnlRKorn
@twhetzel
[Revise subclass] MONDO:0018702 a subclass of MONDO:0015564 Revise subclass user request A request from an external user
#8210 opened Sep 27, 2024 by DnlRKorn
Add 'has material basis in germline mutation in' to porphyria related terms
#8209 opened Sep 26, 2024 by twhetzel
1 of 3 tasks
@twhetzel
SNAP25 Developmental and Epileptic Encephalopathy synonym user request A request from an external user
#8200 opened Sep 24, 2024 by galyea123
[NTR/BANF1] New term request user request A request from an external user
#8191 opened Sep 23, 2024 by elliebroeren
ProTip! Exclude everything labeled bug with -label:bug.