monarch-initiative/mondo

Issues

• DHX30-related complex neurodevelopmental disorder

  #8265 opened a month ago by Jciesielka1
  0

• TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations/TP63

  #8292 opened a month ago by eedoh01
  0

• X-linked syndromic complex neurodevelopmental disorder

  #8266 opened 2 months ago by Jciesielka1
  1

• Add Xrefs to MONDO:0000384 (bladder benign neoplasm) #7829

  #8310 opened 2 months ago by hibaontoforce
  1

• Hemihydranencephaly

  #8311 opened a month ago by galyea123
  1

• [NTR/TFAP2B]

  #8256 opened 2 months ago by elliebroeren
  3

• NDUFB11-Related Disorders

  #8253 opened 2 months ago by galyea123
  0

• Updates to fix QC errors for multiple gene associations

  #8329 opened a month ago by twhetzel
  5

• [Merge] MONDO:0001389 'congenital coronary artery anomaly' with MONDO:0015203 'coronary artery congenital malformation'

  #8360 opened a month ago by twhetzel
  0

• POLR (3) related leukodystrophies [Revise subclass]

  #8351 opened a month ago by kanems
  0

• mitochondrial complex deficiency (MONDO:0000066)

  #8334 opened a month ago by ValWood
  1

• Fix inconsistencies in xrefs related to errors in Synonym sync

  #8332 opened a month ago by twhetzel
  0

• Create QC check to identify when there is >1 affected gene for a gene association

  #8316 opened 2 months ago by twhetzel
  2

• New Term Request: Intellectual disability, autosomal recessive

  #8327 opened a month ago by Jciesielka1
  0

• Synonym Request for DPH5-related diphthamide-deficiency syndrome

  #8326 opened a month ago by Jciesielka1
  0

• Running `refresh-merged` returns out of memory error

  #8308 opened 2 months ago by twhetzel
  13

• Try replacing NORM goal with ROBOT commands

  #8322 opened 2 months ago by matentzn
  4

• MONDO:0009054 'autosomal recessive cutis laxa type 2, classic type' has incorrect synonym

  #8312 opened 2 months ago by twhetzel
  0

• [Merge] MONDO:0034099 'SYNGAP1-related developmental and epileptic encephalopathy'

  #8324 opened 2 months ago by nicolevasilevsky
  0

• [Obsolete] MONDO:0020627 'epileptic encephalopathy, infantile or early childhood'

  #8320 opened 2 months ago by nicolevasilevsky
  0

• OMIM genes pipeline issues - Superticket

  #8317 opened 2 months ago by twhetzel
  0

• [Revise logical def] 'monogenic diabetes'

  #8319 opened 2 months ago by nicolevasilevsky
  0

• Classification of familial hypercholesterolemia, by gene, and by zygosity (Orphanet)

  #8318 opened 2 months ago by cmungall
  0

• Multiple gene associations represented as EquivalentTo

  #8276 opened 2 months ago by twhetzel
  0

• Mismatch between the gene symbol used in the SubClassOf restriction vs. the EquivalentTo restriction

  #8275 opened 2 months ago by twhetzel
  0

• Update ODK to version 1.5.3

  #8288 opened 2 months ago by twhetzel
  0

• Furunculosis (MONDO:0025419) only appears under Fish Disease, not Human

  #8306 opened 2 months ago by lopierra
  0

• karyomegalic interstitial nephritis (MONDO:0013898)

  #8304 opened 2 months ago by ValWood
  0

• Revise MONDO_0010945 (RP17)

  #8302 opened 2 months ago by laraholtes
  0

• many missing subclasses under neurodegenerative disease

  #8301 opened 2 months ago by ValWood
  0

• Incorrect names for some eponymous diseases

  #8294 opened 2 months ago by AleksZakirov
  0

• Request for new synonym [RYR1-related myopathy]

  #8293 opened 2 months ago by galyea123
  0

• Add Levy-Yeboa syndrome as a synonym for secretory diarrhea, myopathy, and deafness

  #8272 opened 2 months ago by galyea123
  0

• Syn. on MONDO:0016676 recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome

  #8263 opened 2 months ago by kanems
  0

• Familial chylomicronemia syndrome (formerly known as "type 1 hyperlipoproteinemia.") AND familial lipoprotein lipase deficiency

  #8259 opened 2 months ago by galyea123
  0

• Add QC check - class with excluded_subClassOf value does not also have a subClassOf statement

  #8290 opened 2 months ago by twhetzel
  0

• Update GH Actions to use new ODK 1.5.3

  #8309 opened 2 months ago by twhetzel
  0

• Document steps to address new ODK updates

  #8307 opened 2 months ago by twhetzel
  0

• [Revise subclass] revise subclasses of MONDO:0100029 'antibody mediated epilepsy'

  #8295 opened 2 months ago by nicolevasilevsky
  0

• [Revise subclass] 'myoclonic-astatic epilepsy'

  #8284 opened 2 months ago by nicolevasilevsky
  0

• [NTR/gene] epilepsy grouping terms from ILAE

  #8280 opened 2 months ago by nicolevasilevsky
  1

• Update MEMORY_JAVA setting in run.sh

  #8267 opened 2 months ago by twhetzel
  0

• [Merge] myoclonic-astatic epilepsy

  #8287 opened 2 months ago by nicolevasilevsky
  0

• [Revise subclass] 'developmental and epileptic encephalopathy'

  #8274 opened 2 months ago by nicolevasilevsky
  0

• Logical definition of "ovarian granulosa cell tumor" is redundant

  #8268 opened 2 months ago by matentzn
  8

• Review Design Patterns for neoplasm located in cells

  #8271 opened 2 months ago by twhetzel
  0

• Review inconsistent synonym scope on MONDO:0007039 'NF2-related schwannomatosis'

  #8258 opened 2 months ago by twhetzel
  0

• Create goal so curators can generate basic Mondo stats

  #8234 opened 2 months ago by twhetzel
  0

• Mito GCEP genes

  #8229 opened 2 months ago by mccormickem
  0

• [Revise subclass]MONDO:0014934 'spinocerebellar ataxia, autosomal recessive 24'

  #8237 opened 2 months ago by katiermullen
  0