monarch-initiative/mondo

Issues

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

  #8258 opened a month ago by twhetzel
  0

• frontotemporal dementia and/or amyotrophic lateral sclerosis

  #8227 opened a month ago by sabrinatoro
  2

• [NTR/TFAP2B]

  #8256 opened a month ago by elliebroeren
  0

• NDUFB11-Related Disorders

  #8253 opened a month ago by galyea123
  0

• neonatal-onset encephalopathy with rigidity and seizures and neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures

  #8225 opened a month ago by galyea123
  0

• TMEM63B-related developmental and epileptic encephalopathy with anaemia

  #8159 opened 2 months ago by ens-ecibrian
  0

• Create goal so curators can generate basic Mondo stats

  #8234 opened a month ago by twhetzel
  0

• Mito GCEP genes

  #8229 opened a month ago by mccormickem
  0

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

  #8237 opened a month ago by katiermullen
  0

• MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related

  #8219 opened a month ago by kanems
  0

• query proposed obsoletion of MONDO:0024321 | disorder of GPI anchor biosynthesis

  #8220 opened a month ago by ValWood
  2

• [Revise subclass] inflammatory bowel disease 1 MONDO_0009960 too broad?

  #8226 opened a month ago by Tobi1kenobi
  0

• Review all Mondo terms which are "and/or"

  #8228 opened a month ago by sabrinatoro
  1

• [Revise subclass] DEE should not be a child of 'epilepsy, idiopathic generalized'

  #8221 opened a month ago by nicolevasilevsky
  0

• Double labels for some RO terms at the top of the ontology.

  #8212 opened 2 months ago by DnlRKorn
  0

• Update Mondo Outreach schedule

  #8207 opened a month ago by sagehrke
  1

• [Revise subclass] MONDO:0018702 a subclass of MONDO:0015564

  #8210 opened 2 months ago by DnlRKorn
  0

• corpus callosum, agenesis of MONDO:0009022

  #8217 opened a month ago by galyea123
  0

• combined oxidative phosphorylation deficiency (MONDO:0000732) definition is truncated

  #8216 opened 2 months ago by ValWood
  0

• Leigh syndrome queries

  #8215 opened 2 months ago by ValWood
  0

• MBD4-related recessive tumor predisposition syndrome

  #8214 opened 2 months ago by keparis
  0

• SNAP25 Developmental and Epileptic Encephalopathy

  #8200 opened 2 months ago by galyea123
  0

• [NTR/BANF1]

  #8191 opened 2 months ago by elliebroeren
  0

• Request for new synonym [COACH syndrome 2] MONDO:0030859; [retinitis pigmentosa 93]MONDO:0030797

  #8190 opened 2 months ago by springnar
  0

• ClinGen request to relabel MONDO:0013069

  #8185 opened 2 months ago by peastc
  0

• Request for new term- Linkeropathy

  #8179 opened 2 months ago by kanems
  0

• ClinGen request to relabel MONDO:0014391

  #8178 opened 2 months ago by justyneross
  0

• GNB1-Related Disorder

  #8167 opened 2 months ago by galyea123
  0

• Question about MONDO:0100062 term definition

  #8161 opened 2 months ago by ens-ecibrian
  0

• PPFIA3-related neurodevelopmental disorder

  #8160 opened 2 months ago by ens-ecibrian
  0

• CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy

  #8158 opened 2 months ago by ens-ecibrian
  0

• CTR9-related neurodevelopmental disorder

  #8157 opened 2 months ago by ens-ecibrian
  0

• PRPF19-related neurodevelopmental disorder

  #8156 opened 2 months ago by ens-ecibrian
  0

• KCND2-related neurodevelopmental disorder with or without seizures

  #8155 opened 2 months ago by ens-ecibrian
  0

• Request to add new gene related syndrome term for DHDDS

  #8152 opened 2 months ago by melnel000
  3

• Add 'has material basis in germline mutation in' to porphyria related terms

  #8209 opened 2 months ago by twhetzel
  0

• Interstitial Lung Disease in Anti-MDA5 Positive Dermatomyositis

  #8118 opened 2 months ago by galyea123
  4

• Request for new term [pediatric high-grade glioma]

  #8126 opened 2 months ago by jychien
  0

• Document QC checks run for Externally Managed Content

  #8168 opened 2 months ago by twhetzel
  0

• Update Mondo Outreach page

  #8181 opened 2 months ago by sagehrke
  1

• The EMC pipeline adds new synonyms that are duplicates of existing synonyms due to differences in the letter case

  #8171 opened 2 months ago by twhetzel
  0

• Bug in updating MedGen Externally Managed Content

  #8170 opened 2 months ago by twhetzel
  0

• Typo in MONDO:0013810

  #8162 opened 2 months ago by caufieldjh
  0

• Review (and maybe merge) 'multiple intestinal atresia' and 'gastrointestinal defects and immunodeficiency syndrome 1'

  #8164 opened 2 months ago by sabrinatoro
  0

• [NTR] KCNH1-Related Disorders

  #8129 opened 2 months ago by EstherCha7
  1

• add definitions to epilepsy terms

  #8139 opened 2 months ago by nicolevasilevsky
  0

• Add new epilepsy related synonyms to Mondo

  #8135 opened 2 months ago by nicolevasilevsky
  0

• Trichorhinophalangeal Syndrome type III

  #8122 opened 3 months ago by galyea123
  0

• ILD and SFTPC Relabing

  #8104 opened 2 months ago by ekendall2
  1

• Review hierarchy subtree for MONDO:0005372 'male infertility'

  #8115 opened 3 months ago by twhetzel
  0