Difference between revisions of "Disease Ontology contributions and related issues"
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====Ontology Term Requests==== | ====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 | April 2013 | ||
*Joubert syndrome - for jbts-14 (Accepted) | *Joubert syndrome - for jbts-14 (Accepted) | ||
− | *Meckel-Gruber syndrome - for mks-1, mks-2, mks-3, mksr-1, mksr-2 ( | + | *Meckel-Gruber syndrome - for mks-1, mks-2, mks-3, mksr-1, mksr-2 (Accepted as Meckel syndrome; Meckel-Gruber Syndrome, added as synonym) |
− | Accepted as Meckel syndrome | ||
June 2013 | June 2013 | ||
*Hydrolethalus syndrome - for hyls-1 (Accepted) | *Hydrolethalus syndrome - for hyls-1 (Accepted) | ||
*Opitz-GBBB syndrome - for madd-2 (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. | ||
+ | |||
+ | Back To [[Disease and Drugs]] |
Latest revision as of 21:30, 3 June 2014
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.
Back To Disease and Drugs