Disease Ontology contributions and related issues

Ontology Term Requests

Ontology term requests are sent to Lynn Schriml at the Disease Ontology project

Feb, 2014: Requests now entered at: https://sourceforge.net/p/diseaseontology/feature-requests/?source=navbar

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 (Accepted, Feb 2014)

Feb 2014:

• Orotic aciduria - for umps-1 and pyr-1 (Accepted)

April 2014:

• Perrault syndrome - for lars-2 (Accepted)

May 2014:

• Jensen syndrome - for ddp-1 (Accepted); waiting for term to propagate to OA
• Synonyms for Deafness Dystonia Sydrome (DOID:0050757): Dystonia Deafness Syndrome, Deafness Dystonia Optic Neuronopathy Syndrome (DDON), Deafness Dystonia Optic Atrophy Syndrome, Mohr-Tranebjaerg Syndrome (Accepted)

Check in disease OA--for comment 'Pending DO term request' for filling in DO term field after accepted requests.

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