Difference between revisions of "Disease Ontology contributions and related issues"

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====Ontology Term Requests====
 
====Ontology Term Requests====
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Ontology term requests are sent to Lynn Schriml at the Disease Ontology project
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Feb, 2014: Requests now entered at: https://sourceforge.net/p/diseaseontology/feature-requests/?source=navbar
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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 (Accepted)
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*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 (Meckel-Gruber Syndrome, added as synonym)
 
  
 
June 2013
 
June 2013
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*Opitz-GBBB syndrome - for madd-2 (Accepted)
 
*Opitz-GBBB syndrome - for madd-2 (Accepted)
  
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October 2013
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*Familial Encephalopathy, with neuroserpin inclusion bodies; FENIB - for srp-2 (Accepted, Feb 2014)
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Feb 2014:
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*Orotic aciduria - for umps-1 and pyr-1 (Accepted)
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April 2014:
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*Perrault syndrome - for lars-2 (Accepted)
  
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May 2014:
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*Jensen syndrome - for ddp-1  (Accepted); waiting for term to propagate to OA
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*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)
  
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Check in disease OA--for comment 'Pending DO term request' for filling in DO term field after accepted requests.
  
 
Back To [[Disease and Drugs]]
 
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