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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
Review inconsistent synonym scope on MONDO:0007039 'NF2-related schwannomatosis'
#8258
opened Oct 18, 2024 by
twhetzel
3 tasks
[Revise subclass]MONDO:0014934 'spinocerebellar ataxia, autosomal recessive 24'
Revise subclass
#8237
opened Oct 13, 2024 by
katiermullen
Mito GCEP genes
user request
A request from an external user
#8229
opened Oct 11, 2024 by
mccormickem
frontotemporal dementia and/or amyotrophic lateral sclerosis
user request
A request from an external user
#8227
opened Oct 10, 2024 by
sabrinatoro
[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
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
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
[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
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
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