From: <pr...@us...> - 2013-02-26 21:39:19
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Revision: 4811 http://obo.svn.sourceforge.net/obo/?rev=4811&view=rev Author: probins Date: 2013-02-26 21:39:11 +0000 (Tue, 26 Feb 2013) Log Message: ----------- Some new disease annotations Added Paths: ----------- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607039.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607084.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607453.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611493.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613411.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614199.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614840.tab Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607039.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607039.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607039.tab 2013-02-26 21:39:11 UTC (rev 4811) @@ -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:607039 #607039 DEAFNESS, AUTOSOMAL RECESSIVE 22; DFNB22 OTOA HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:607039 HPO:probinson Jan 9, 2013 +OMIM:607039 #607039 DEAFNESS, AUTOSOMAL RECESSIVE 22; DFNB22 OTOA HP:0000407 Sensorineural hearing impairment TAS TAS OMIM:607039 HPO:probinson Feb 26, 2013 Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607084.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607084.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607084.tab 2013-02-26 21:39:11 UTC (rev 4811) @@ -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:607084 #607084 DEAFNESS, AUTOSOMAL RECESSIVE 31; DFNB31;;WHIRLER, MOUSE, HOMOLOG OF WHRN HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:607084 HPO:probinson Jan 9, 2013 +OMIM:607084 #607084 DEAFNESS, AUTOSOMAL RECESSIVE 31; DFNB31;;WHIRLER, MOUSE, HOMOLOG OF WHRN HP:0000407 Sensorineural hearing impairment TAS TAS OMIM:607084 HPO:probinson Feb 26, 2013 Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607453.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607453.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607453.tab 2013-02-26 21:39:11 UTC (rev 4811) @@ -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:607453 #607453 DEAFNESS, AUTOSOMAL DOMINANT 44; DFNA44 CCDC50 HP:0000006 Autosomal dominant inheritance PCS PCS pmid:17503326 HPO:probinson Jan 9, 2013 +OMIM:607453 #607453 DEAFNESS, AUTOSOMAL DOMINANT 44; DFNA44 CCDC50 HP:0000407 Sensorineural hearing impairment HP:0003621 Juvenile onset PCS PCS pmid:17503326 HPO:probinson Feb 26, 2013 Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611493.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611493.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611493.tab 2013-02-26 21:39:11 UTC (rev 4811) @@ -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:611493 #611493 ATRIAL FIBRILLATION, FAMILIAL, 4; ATFB4 KCNE2 HP:0000006 Autosomal dominant inheritance PCS PCS pmid:15368194 HPO:probinson Jan 9, 2013 +OMIM:611493 #611493 ATRIAL FIBRILLATION, FAMILIAL, 4; ATFB4 KCNE2 HP:0005110 Atrial fibrillation PCS PCS pmid:15368194 HPO:probinson Feb 26, 2013 Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613411.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613411.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613411.tab 2013-02-26 21:39:11 UTC (rev 4811) @@ -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:613411 #613411 OGUCHI DISEASE 2;;NIGHT BLINDNESS, CONGENITAL STATIONARY, OGUCHI TYPE 2 GRK1 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:613411 HPO:skoehler Jan 9, 2013 +OMIM:613411 #613411 OGUCHI DISEASE 2;;NIGHT BLINDNESS, CONGENITAL STATIONARY, OGUCHI TYPE 2 GRK1 HP:0007642 Congenital stationary night blindness IEA IEA OMIM:613411 HPO:skoehler Feb 26, 2013 Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614199.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614199.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614199.tab 2013-02-26 21:39:11 UTC (rev 4811) @@ -0,0 +1,8 @@ +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:614199 #614199 NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES;NPHS5 LAMB2 HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:614199 HPO:probinson Jan 9, 2013 +OMIM:614199 #614199 NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES;NPHS5 LAMB2 HP:0000100 Nephrotic syndrome HP:0003577 Congenital onset TAS TAS OMIM:614199 HPO:probinson Feb 26, 2013 +OMIM:614199 #614199 NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES;NPHS5 LAMB2 HP:0000093 Proteinuria TAS TAS OMIM:614199 HPO:probinson Feb 26, 2013 +OMIM:614199 #614199 NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES;NPHS5 LAMB2 HP:0003774 End stage renal disease TAS TAS OMIM:614199 HPO:probinson Feb 26, 2013 +OMIM:614199 #614199 NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES;NPHS5 LAMB2 HP:0000545 Myopia TAS TAS Frequent OMIM:614199 HPO:probinson Feb 26, 2013 +OMIM:614199 #614199 NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES;NPHS5 LAMB2 HP:0000486 Strabismus TAS TAS Frequent OMIM:614199 HPO:probinson Feb 26, 2013 +OMIM:614199 #614199 NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES;NPHS5 LAMB2 HP:0000639 Nystagmus TAS TAS Frequent OMIM:614199 HPO:probinson Feb 26, 2013 Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614840.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614840.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614840.tab 2013-02-26 21:39:11 UTC (rev 4811) @@ -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:614840 #614840 HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA; HH11 TACR3 HP:0000007 Autosomal recessive inheritance IEA IEA pmid:19079066 HPO:probinson Jan 9, 2013 +OMIM:614840 #614840 HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA; HH11 TACR3 HP:0000044 Hypogonadotrophic hypogonadism IEA IEA pmid:19079066 HPO:probinson Feb 26, 2013 +OMIM:614840 #614840 HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA; HH11 TACR3 HP:0008197 Absence of pubertal development IEA IEA pmid:19079066 HPO:probinson Feb 26, 2013 This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site. |