Disease Ontology contributions and related issues
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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)