From: <pr...@us...> - 2013-03-30 07:55:49
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Revision: 4861 http://obo.svn.sourceforge.net/obo/?rev=4861&view=rev Author: probins Date: 2013-03-30 07:55:41 +0000 (Sat, 30 Mar 2013) Log Message: ----------- Adding new disease entries Added Paths: ----------- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603373.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606243.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609464.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610381.tab Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603373.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603373.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603373.tab 2013-03-30 07:55:41 UTC (rev 4861) @@ -0,0 +1,4 @@ +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:603373 #603373 HYPERTHYROIDISM, FAMILIAL GESTATIONAL HP:0000006 Autosomal dominant inheritance TAS TAS pmid:9854118 HPO:probinson Jan 9, 2013 +OMIM:603373 #603373 HYPERTHYROIDISM, FAMILIAL GESTATIONAL HP:0012188 Hyperemesis gravidarum TAS TAS pmid:9854118 HPO:probinson Mar 30, 2013 +OMIM:603373 #603373 HYPERTHYROIDISM, FAMILIAL GESTATIONAL HP:0000836 Hyperthyroidism TAS TAS Gestational hyperthyroidism pmid:9854118 HPO:probinson Mar 30, 2013 Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606243.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606243.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606243.tab 2013-03-30 07:55:41 UTC (rev 4861) @@ -0,0 +1,3 @@ +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:606243 #606243 ALVEOLAR SOFT PART SARCOMA; ASPS HP:0012218 Alveolar soft part sarcoma TAS TAS OMIM:606243 HPO:probinson Jan 9, 2013 +OMIM:606243 #606243 ALVEOLAR SOFT PART SARCOMA; ASPS HP:0001428 Somatic mutation TAS TAS OMIM:606243 HPO:probinson Mar 30, 2013 Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609464.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609464.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609464.tab 2013-03-30 07:55:41 UTC (rev 4861) @@ -0,0 +1,3 @@ +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:609464 #609464 SARCOIDOSIS, EARLY-ONSET;;EOS NOD2 HP:0012220 Non-caseating epithelioid cell granulomatosis PCS PCS pmid:15086578 HPO:probinson Mar 30, 2013 +OMIM:609464 #609464 SARCOIDOSIS, EARLY-ONSET;;EOS NOD2 HP:0000006 Autosomal dominant inheritance PCS PCS pmid:15086578 HPO:probinson Mar 30, 2013 Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610381.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610381.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610381.tab 2013-03-30 07:55:41 UTC (rev 4861) @@ -0,0 +1,4 @@ +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:610381 #610381 CONE-ROD DYSTROPHY 11; CORD11 Associated syringomyelia => Remove this term! (,,) => See definition http://www.omim.org/entry/186700 HP:0000006 Autosomal dominant inheritance PCS PCS pmid:15028672 HPO:probinson Jan 9, 2013 +OMIM:610381 #610381 CONE-ROD DYSTROPHY 11; CORD11 Associated syringomyelia => Remove this term! (,,) => See definition http://www.omim.org/entry/186700 HP:0000608 Macular degeneration PCS PCS pmid:15028672 HPO:probinson Mar 30, 2013 +OMIM:610381 #610381 CONE-ROD DYSTROPHY 11; CORD11 Associated syringomyelia => Remove this term! (,,) => See definition http://www.omim.org/entry/186700 HP:0000548 Cone-rod dystrophy PCS PCS pmid:15028672 HPO:probinson Mar 30, 2013 This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site. |