From: <koe...@us...> - 2012-11-26 14:16:23
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Revision: 4678 http://obo.svn.sourceforge.net/obo/?rev=4678&view=rev Author: koehlers Date: 2012-11-26 14:16:16 +0000 (Mon, 26 Nov 2012) Log Message: ----------- Modified Paths: -------------- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-128230.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-256000.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300881.tab Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-128230.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-128230.tab 2012-11-26 13:58:51 UTC (rev 4677) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-128230.tab 2012-11-26 14:16:16 UTC (rev 4678) @@ -15,3 +15,4 @@ OMIM:128230 DYSTONIA, DOPA-RESPONSIVE HP:0008297 Transient hyperphenylalaninemia IEA IEA OMIM:128230 SKOEHLER 20.06.2010 OMIM:128230 DYSTONIA, DOPA-RESPONSIVE HP:0011463 Childhood onset TAS TAS OMIM:128230 probinson 16.07.2012 OMIM:128230 #128230 DYSTONIA, DOPA-RESPONSIVE; DRD;;DYSTONIA 5; DYT5;;DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION;;DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION;;SEGAWA SYNDROME, AUTOSOMAL DOMINANT;;DYSTONIA, DOPA-RESPONSIVE, AUTOSOMAL DOMINANT;;DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL DOMINANT HP:0000007 Autosomal recessive inheritance IEA IEA rare OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE (RARE) OMIM:128230 HPO:skoehler 18.11.2012 +OMIM:128230 #128230 DYSTONIA, DOPA-RESPONSIVE; DRD;;DYSTONIA 5; DYT5;;DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION;;DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION;;SEGAWA SYNDROME, AUTOSOMAL DOMINANT;;DYSTONIA, DOPA-RESPONSIVE, AUTOSOMAL DOMINANT;;DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL DOMINANT HP:0003812 Phenotypic variability IEA IEA OMIM-CS:MISCELLANEOUS > CLINICAL HETEROGENEITY OMIM:128230 HPO:skoehler 26.11.2012 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-256000.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-256000.tab 2012-11-26 13:58:51 UTC (rev 4677) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-256000.tab 2012-11-26 14:16:16 UTC (rev 4678) @@ -30,3 +30,4 @@ OMIM:256000 #256000 LEIGH SYNDROME; LS;;NECROTIZING ENCEPHALOPATHY, INFANTILE SUBACUTE, OF LEIGH; SNELEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, INCLUDED;;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY, INCLUDED;;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX III DEFICIENCY, INCLUDED;;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY, INCLUDED;;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX V DEFICIENCY, INCLUDED HP:0003676 Progressive disorder IEA IEA OMIM-CS:MISCELLANEOUS > PROGRESSIVE DISORDER, USUALLY WITH RAPID, RELENTLESS COURSE OMIM:256000 HPO:skoehler Nov 26, 2012 OMIM:256000 #256000 LEIGH SYNDROME; LS;;NECROTIZING ENCEPHALOPATHY, INFANTILE SUBACUTE, OF LEIGH; SNELEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, INCLUDED;;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY, INCLUDED;;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX III DEFICIENCY, INCLUDED;;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY, INCLUDED;;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX V DEFICIENCY, INCLUDED HP:0001404 Hepatocellular necrosis IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CORD CHARACTERIZED BY DEMYELINATION, NECROSIS, GLIOSIS, SPONGIOSIS, OMIM:256000 HPO:skoehler Nov 26, 2012 OMIM:256000 #256000 LEIGH SYNDROME; LS;;NECROTIZING ENCEPHALOPATHY, INFANTILE SUBACUTE, OF LEIGH; SNELEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, INCLUDED;;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY, INCLUDED;;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX III DEFICIENCY, INCLUDED;;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY, INCLUDED;;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX V DEFICIENCY, INCLUDED HP:0002171 Gliosis IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CORD CHARACTERIZED BY DEMYELINATION, NECROSIS, GLIOSIS, SPONGIOSIS, OMIM:256000 HPO:skoehler Nov 26, 2012 +OMIM:256000 #256000 LEIGH SYNDROME; LS;;NECROTIZING ENCEPHALOPATHY, INFANTILE SUBACUTE, OF LEIGH; SNELEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, INCLUDED;;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY, INCLUDED;;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX III DEFICIENCY, INCLUDED;;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY, INCLUDED;;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX V DEFICIENCY, INCLUDED HP:0003812 Phenotypic variability IEA IEA OMIM-CS:MISCELLANEOUS > CLINICAL HETEROGENEITY OMIM:256000 HPO:skoehler 26.11.2012 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300881.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300881.tab 2012-11-26 13:58:51 UTC (rev 4677) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300881.tab 2012-11-26 14:16:16 UTC (rev 4678) @@ -30,3 +30,4 @@ OMIM:300881 %300881 BARATELA-SCOTT SYNDROME HP:0001620 High pitched voice IEA IEA rare OMIM-CS:VOICE > HIGH PITCHED VOICE (RARE) OMIM:300881 HPO:skoehler Nov 20, 2012 OMIM:300881 %300881 BARATELA-SCOTT SYNDROME HP:0003502 Mild short stature IEA IEA OMIM-CS:GROWTH_HEIGHT > SHORT STATURE, MILDLY DISPROPORTIONATE OMIM:300881 HPO:skoehler Nov 20, 2012 OMIM:300881 %300881 BARATELA-SCOTT SYNDROME HP:0001419 X-linked recessive inheritance IEA IEA OMIM-CS:INHERITANCE > X-LINKED RECESSIVE OMIM:300881 HPO:skoehler Nov 20, 2012 +OMIM:300881 %300881 BARATELA-SCOTT SYNDROME HP:0000389 Chronic otitis media IEA IEA rare OMIM-CS:HEAD AND NECK_EARS > OTITIS MEDIA, CHRONIC (RARE) OMIM:300881 HPO:skoehler 26.11.2012 This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site. |