Disease Ontology contributions and related issues

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Ontology Term Requests

April 2013

  • Joubert syndrome - for jbts-14 (Accepted)
  • Meckel-Gruber syndrome - for mks-1, mks-2, mks-3, mksr-1, mksr-2

Accepted as Meckel syndrome (Meckel-Gruber Syndrome, added as synonym)

  • Hydrolethalus syndrome - for hyls-1 (request sent)
  • Opitz-GBBB syndrome - for madd-2 (request sent)