Disease Ontology contributions and related issues
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Jump to navigationJump to searchOntology Term Requests
Ontology term requests are sent to Lynn Schriml at the Disease Ontology project
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)
June 2013
- Hydrolethalus syndrome - for hyls-1 (Accepted)
- Opitz-GBBB syndrome - for madd-2 (Accepted)
October 2013
- Familial Encephalopathy, with neuroserpin inclusion bodies; FENIB - for srp-2 (Requested)
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