From: <pr...@us...> - 2013-11-23 15:29:32
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Revision: 5054 http://sourceforge.net/p/obo/svn/5054 Author: probins Date: 2013-11-23 15:29:30 +0000 (Sat, 23 Nov 2013) Log Message: ----------- A few revised annotation files Modified Paths: -------------- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102300.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-157400.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-192315.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600977.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607225.tab Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102300.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102300.tab 2013-11-21 17:57:35 UTC (rev 5053) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102300.tab 2013-11-23 15:29:30 UTC (rev 5054) @@ -4,5 +4,4 @@ OMIM:102300 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1 HP:0001891 Iron deficiency anemia IEA IEA OMIM:102300 HPO:skoehler Jun 20, 2010 OMIM:102300 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1 HP:0003401 Paresthesia TAS TAS OMIM:102300 HPO:skoehler Feb 17, 2009 OMIM:102300 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1 HP:0008991 Exercise-induced leg cramps IEA IEA OMIM:102300 HPO Feb 17, 2009 -OMIM:102300 %102300 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1; RLS1;;ACROMELALGIA, HEREDITARY;;EKBOM SYNDROME HP:0001425 Heterogeneous IEA IEA OMIM-CS:MISCELLANEOUS > GENETIC HETEROGENEITY (SEE RLS2, 608831) OMIM:102300 HPO:skoehler Nov 16, 2012 OMIM:102300 %102300 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1; RLS1;;ACROMELALGIA, HEREDITARY;;EKBOM SYNDROME HP:0002360 Sleep disturbance IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > RESULTS IN NOCTURNAL INSOMNIA AND CHRONIC SLEEP DEPRIVATION OMIM:102300 HPO:skoehler Nov 17, 2012 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-157400.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-157400.tab 2013-11-21 17:57:35 UTC (rev 5053) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-157400.tab 2013-11-23 15:29:30 UTC (rev 5054) @@ -1,3 +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:157400 MILIA, MULTIPLE ERUPTIVE HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:157400 HPO 17.02.2009 -OMIM:157400 MILIA, MULTIPLE ERUPTIVE HP:0001056 Milia ITM ITM OMIM:157400 HPO 17.02.2009 +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:157400 MILIA, MULTIPLE ERUPTIVE HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:157400 HPO Feb 17, 2009 +OMIM:157400 MILIA, MULTIPLE ERUPTIVE HP:0001056 Milia TAS TAS OMIM:157400 HPO:probinson Feb 17, 2009 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-192315.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-192315.tab 2013-11-21 17:57:35 UTC (rev 5053) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-192315.tab 2013-11-23 15:29:30 UTC (rev 5054) @@ -1,31 +1,31 @@ -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:192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:192315 HPO 17.02.2009 -OMIM:192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY HP:0000505 Visual impairment IEA IEA OMIM:192315 HPO 17.02.2009 -OMIM:192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY HP:0000573 Retinal hemorrhage IEA IEA OMIM:192315 HPO 17.02.2009 -OMIM:192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY HP:0001147 Retinal exudate IEA IEA OMIM:192315 HPO 17.02.2009 -OMIM:192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY HP:0001250 Seizures IEA IEA OMIM:192315 HPO 17.02.2009 -OMIM:192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY HP:0001260 Dysarthria IEA IEA OMIM:192315 HPO 17.02.2009 -OMIM:192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY HP:0001269 Hemiparesis IEA IEA OMIM:192315 HPO 17.02.2009 -OMIM:192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY HP:0001437 Abnormality of the musculature of the lower limbs IEA IEA OMIM:192315 HPO:skoehler 17.02.2009 -OMIM:192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY HP:0002395 Lower limb hyperreflexia IEA IEA OMIM:192315 HPO 17.02.2009 -OMIM:192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY HP:0002633 Vasculitis ITM ITM OMIM:192315 HPO 17.02.2009 -OMIM:192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY HP:0003565 Elevated erythrocyte sedimentation rate IEA IEA OMIM:192315 HPO 17.02.2009 -OMIM:192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY HP:0006970 Periventricular leukomalacia ITM ITM OMIM:192315 HPO 17.02.2009 -OMIM:192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY HP:0007009 Central nervous system degeneration IEA IEA OMIM:192315 HPO 17.02.2009 -OMIM:192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY HP:0007017 Progressive forgetfulness IEA IEA OMIM:192315 HPO 17.02.2009 -OMIM:192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY HP:0009763 Limb pain IEA IEA OMIM:192315 HPO:skoehler 17.02.2009 -OMIM:192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY HP:0200030 Punctate vasculitis skin lesions IEA IEA OMIM:192315 HPO 17.02.2009 -OMIM:192315 #192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL;;CEREBRORETINAL VASCULOPATHY, HEREDITARY; CRV;;RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUDAND MIGRAINE PHENOMENA HP:0002910 Elevated hepatic transaminases IEA IEA OMIM-CS:LABORATORY ABNORMALITIES > ABNORMAL LIVER ENZYMES OMIM:192315 HPO:skoehler 17.10.2012 -OMIM:192315 #192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL;;CEREBRORETINAL VASCULOPATHY, HEREDITARY; CRV;;RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUDAND MIGRAINE PHENOMENA HP:0000790 Hematuria IEA IEA OMIM-CS:LABORATORY ABNORMALITIES > HEMATURIA OMIM:192315 HPO:skoehler 17.10.2012 -OMIM:192315 #192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL;;CEREBRORETINAL VASCULOPATHY, HEREDITARY; CRV;;RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUDAND MIGRAINE PHENOMENA HP:0000093 Proteinuria IEA IEA OMIM-CS:LABORATORY ABNORMALITIES > PROTEINURIA OMIM:192315 HPO:skoehler 17.10.2012 -OMIM:192315 #192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL;;CEREBRORETINAL VASCULOPATHY, HEREDITARY; CRV;;RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUDAND MIGRAINE PHENOMENA HP:0003581 Adult onset IEA IEA OMIM-CS:MISCELLANEOUS > ONSET IN ADULTHOOD OMIM:192315 HPO:skoehler 17.10.2012 -OMIM:192315 #192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL;;CEREBRORETINAL VASCULOPATHY, HEREDITARY; CRV;;RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUDAND MIGRAINE PHENOMENA HP:0003676 Progressive disorder IEA IEA OMIM-CS:MISCELLANEOUS > PROGRESSIVE DISORDER OMIM:192315 HPO:skoehler 17.10.2012 -OMIM:192315 #192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL;;CEREBRORETINAL VASCULOPATHY, HEREDITARY; CRV;;RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUDAND MIGRAINE PHENOMENA HP:0000708 Behavioural/Psychiatric Abnormality IEA IEA OMIM-CS:NEUROLOGIC_BEHAVIORAL/PSYCHIATRIC MANIFESTATIONS > PSYCHIATRIC DISTURBANCES OMIM:192315 HPO:skoehler 17.10.2012 -OMIM:192315 #192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL;;CEREBRORETINAL VASCULOPATHY, HEREDITARY; CRV;;RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUDAND MIGRAINE PHENOMENA HP:0002186 Apraxia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > APRAXIA OMIM:192315 HPO:skoehler 17.10.2012 -OMIM:192315 #192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL;;CEREBRORETINAL VASCULOPATHY, HEREDITARY; CRV;;RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUDAND MIGRAINE PHENOMENA HP:0000726 Dementia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DEMENTIA, PROGRESSIVE OMIM:192315 HPO:skoehler 17.10.2012 -OMIM:192315 #192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL;;CEREBRORETINAL VASCULOPATHY, HEREDITARY; CRV;;RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUDAND MIGRAINE PHENOMENA HP:0002076 Migraine IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MIGRAINE OMIM:192315 HPO:skoehler 17.10.2012 -OMIM:192315 #192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL;;CEREBRORETINAL VASCULOPATHY, HEREDITARY; CRV;;RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUDAND MIGRAINE PHENOMENA HP:0001297 Stroke IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > STROKE OMIM:192315 HPO:skoehler 17.10.2012 -OMIM:192315 #192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL;;CEREBRORETINAL VASCULOPATHY, HEREDITARY; CRV;;RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUDAND MIGRAINE PHENOMENA HP:0001413 Micronodular cirrhosis IEA IEA rare OMIM-CS:ABDOMEN_LIVER > MICRONODULAR CIRRHOSIS (LESS COMMON) OMIM:192315 HPO:skoehler 18.11.2012 -OMIM:192315 #192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL;;CEREBRORETINAL VASCULOPATHY, HEREDITARY; CRV;;RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUDAND MIGRAINE PHENOMENA HP:0001009 Telangiectasia IEA IEA OMIM-CS:HEAD AND NECK_EYES > MICROANGIOPATHIC TELANGIECTASIA OMIM:192315 HPO:skoehler 22.01.2013 -OMIM:192315 #192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL;;CEREBRORETINAL VASCULOPATHY, HEREDITARY; CRV;;RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUDAND MIGRAINE PHENOMENA HP:0000969 Edema IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SUBCORTICAL LESIONS WITH EDEMA OMIM:192315 HPO:skoehler 22.01.2013 -OMIM:192315 #192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL;;CEREBRORETINAL VASCULOPATHY, HEREDITARY; CRV;;RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUDAND MIGRAINE PHENOMENA HP:0000529 Progressive visual loss IEA IEA OMIM-CS:HEAD AND NECK_EYES > DECREASED VISUAL ACUITY, PROGRESSIVE OMIM:192315 HPO:skoehler 31.05.2013 +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:192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:192315 HPO Feb 17, 2009 +OMIM:192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY HP:0000505 Visual impairment IEA IEA OMIM:192315 HPO Feb 17, 2009 +OMIM:192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY HP:0000573 Retinal hemorrhage IEA IEA OMIM:192315 HPO Feb 17, 2009 +OMIM:192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY HP:0001147 Retinal exudate IEA IEA OMIM:192315 HPO Feb 17, 2009 +OMIM:192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY HP:0001250 Seizures IEA IEA OMIM:192315 HPO Feb 17, 2009 +OMIM:192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY HP:0001260 Dysarthria IEA IEA OMIM:192315 HPO Feb 17, 2009 +OMIM:192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY HP:0001269 Hemiparesis IEA IEA OMIM:192315 HPO Feb 17, 2009 +OMIM:192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY HP:0001437 Abnormality of the musculature of the lower limbs IEA IEA OMIM:192315 HPO:skoehler Feb 17, 2009 +OMIM:192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY HP:0002395 Lower limb hyperreflexia IEA IEA OMIM:192315 HPO Feb 17, 2009 +OMIM:192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY HP:0003565 Elevated erythrocyte sedimentation rate IEA IEA OMIM:192315 HPO Feb 17, 2009 +OMIM:192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY HP:0007009 Central nervous system degeneration IEA IEA OMIM:192315 HPO Feb 17, 2009 +OMIM:192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY HP:0007017 Progressive forgetfulness IEA IEA OMIM:192315 HPO Feb 17, 2009 +OMIM:192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY HP:0009763 Limb pain IEA IEA OMIM:192315 HPO:skoehler Feb 17, 2009 +OMIM:192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY HP:0200030 Punctate vasculitis skin lesions IEA IEA OMIM:192315 HPO Feb 17, 2009 +OMIM:192315 #192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL;;CEREBRORETINAL VASCULOPATHY, HEREDITARY; CRV;;RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUDAND MIGRAINE PHENOMENA HP:0002910 Elevated hepatic transaminases IEA IEA OMIM-CS:LABORATORY ABNORMALITIES > ABNORMAL LIVER ENZYMES OMIM:192315 HPO:skoehler Oct 17, 2012 +OMIM:192315 #192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL;;CEREBRORETINAL VASCULOPATHY, HEREDITARY; CRV;;RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUDAND MIGRAINE PHENOMENA HP:0000790 Hematuria IEA IEA OMIM-CS:LABORATORY ABNORMALITIES > HEMATURIA OMIM:192315 HPO:skoehler Oct 17, 2012 +OMIM:192315 #192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL;;CEREBRORETINAL VASCULOPATHY, HEREDITARY; CRV;;RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUDAND MIGRAINE PHENOMENA HP:0000093 Proteinuria IEA IEA OMIM-CS:LABORATORY ABNORMALITIES > PROTEINURIA OMIM:192315 HPO:skoehler Oct 17, 2012 +OMIM:192315 #192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL;;CEREBRORETINAL VASCULOPATHY, HEREDITARY; CRV;;RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUDAND MIGRAINE PHENOMENA HP:0003581 Adult onset IEA IEA OMIM-CS:MISCELLANEOUS > ONSET IN ADULTHOOD OMIM:192315 HPO:skoehler Oct 17, 2012 +OMIM:192315 #192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL;;CEREBRORETINAL VASCULOPATHY, HEREDITARY; CRV;;RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUDAND MIGRAINE PHENOMENA HP:0003676 Progressive disorder IEA IEA OMIM-CS:MISCELLANEOUS > PROGRESSIVE DISORDER OMIM:192315 HPO:skoehler Oct 17, 2012 +OMIM:192315 #192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL;;CEREBRORETINAL VASCULOPATHY, HEREDITARY; CRV;;RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUDAND MIGRAINE PHENOMENA HP:0000708 Behavioural/Psychiatric Abnormality IEA IEA OMIM-CS:NEUROLOGIC_BEHAVIORAL/PSYCHIATRIC MANIFESTATIONS > PSYCHIATRIC DISTURBANCES OMIM:192315 HPO:skoehler Oct 17, 2012 +OMIM:192315 #192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL;;CEREBRORETINAL VASCULOPATHY, HEREDITARY; CRV;;RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUDAND MIGRAINE PHENOMENA HP:0002186 Apraxia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > APRAXIA OMIM:192315 HPO:skoehler Oct 17, 2012 +OMIM:192315 #192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL;;CEREBRORETINAL VASCULOPATHY, HEREDITARY; CRV;;RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUDAND MIGRAINE PHENOMENA HP:0000726 Dementia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DEMENTIA, PROGRESSIVE OMIM:192315 HPO:skoehler Oct 17, 2012 +OMIM:192315 #192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL;;CEREBRORETINAL VASCULOPATHY, HEREDITARY; CRV;;RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUDAND MIGRAINE PHENOMENA HP:0002076 Migraine IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MIGRAINE OMIM:192315 HPO:skoehler Oct 17, 2012 +OMIM:192315 #192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL;;CEREBRORETINAL VASCULOPATHY, HEREDITARY; CRV;;RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUDAND MIGRAINE PHENOMENA HP:0001297 Stroke IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > STROKE OMIM:192315 HPO:skoehler Oct 17, 2012 +OMIM:192315 #192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL;;CEREBRORETINAL VASCULOPATHY, HEREDITARY; CRV;;RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUDAND MIGRAINE PHENOMENA HP:0001413 Micronodular cirrhosis IEA IEA rare OMIM-CS:ABDOMEN_LIVER > MICRONODULAR CIRRHOSIS (LESS COMMON) OMIM:192315 HPO:skoehler Nov 18, 2012 +OMIM:192315 #192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL;;CEREBRORETINAL VASCULOPATHY, HEREDITARY; CRV;;RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUDAND MIGRAINE PHENOMENA HP:0001009 Telangiectasia IEA IEA OMIM-CS:HEAD AND NECK_EYES > MICROANGIOPATHIC TELANGIECTASIA OMIM:192315 HPO:skoehler Jan 22, 2013 +OMIM:192315 #192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL;;CEREBRORETINAL VASCULOPATHY, HEREDITARY; CRV;;RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUDAND MIGRAINE PHENOMENA HP:0000969 Edema IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SUBCORTICAL LESIONS WITH EDEMA OMIM:192315 HPO:skoehler Jan 22, 2013 +OMIM:192315 #192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL;;CEREBRORETINAL VASCULOPATHY, HEREDITARY; CRV;;RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUDAND MIGRAINE PHENOMENA HP:0000529 Progressive visual loss IEA IEA OMIM-CS:HEAD AND NECK_EYES > DECREASED VISUAL ACUITY, PROGRESSIVE OMIM:192315 HPO:skoehler May 31, 2013 +OMIM:192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY HP:0200029 Vasculitis in the skin TAS TAS OMIM:192315 HPO:probinson Nov 23, 2013 +OMIM:192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY HP:0002518 Abnormality of the periventricular white matter TAS TAS OMIM:192315 HPO:probinson Nov 23, 2013 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600977.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600977.tab 2013-11-21 17:57:35 UTC (rev 5053) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600977.tab 2013-11-23 15:29:30 UTC (rev 5054) @@ -1,5 +1,6 @@ -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:600977 CONE-ROD DYSTROPHY 5 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:600977 HPO 17.02.2009 -OMIM:600977 CONE-ROD DYSTROPHY 5 HP:0000603 Central scotoma ITM ITM OMIM:600977 HPO 17.02.2009 -OMIM:600977 CONE-ROD DYSTROPHY 5 HP:0000613 Photophobia IEA IEA OMIM:600977 HPO 17.02.2009 -OMIM:600977 CONE-ROD DYSTROPHY 5 HP:0008008 Progressive central visual loss IEA IEA OMIM:600977 HPO 17.02.2009 +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:600977 CONE-ROD DYSTROPHY 5 PITPNM3 HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:600977 HPO:probinson Feb 17, 2009 +OMIM:600977 CONE-ROD DYSTROPHY 5 PITPNM3 HP:0000613 Photophobia TAS TAS OMIM:600977 HPO:probinson Feb 17, 2009 +OMIM:600977 CONE-ROD DYSTROPHY 5 PITPNM3 HP:0008008 Progressive central visual loss TAS TAS OMIM:600977 HPO:probinson Feb 17, 2009 +OMIM:600977 CONE-ROD DYSTROPHY 5 PITPNM3 HP:0000551 Abnormality of color vision TAS TAS OMIM:600977 HPO:probinson Nov 23, 2013 +OMIM:600977 CONE-ROD DYSTROPHY 5 PITPNM3 HP:0000608 Macular degeneration TAS TAS pmid:17377520 HPO:probinson Nov 23, 2013 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607225.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607225.tab 2013-11-21 17:57:35 UTC (rev 5053) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607225.tab 2013-11-23 15:29:30 UTC (rev 5054) @@ -1,20 +1,20 @@ 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:607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:607225 HPO 17.02.2009 -OMIM:607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING HP:0000020 Urinary incontinence IEA IEA OMIM:607225 HPO:skoehler 18.06.2010 -OMIM:607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING HP:0000271 Abnormality of the face IEA IEA OMIM:607225 HPO 17.02.2009 -OMIM:607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING HP:0000478 Abnormality of the eye IEA IEA OMIM:607225 HPO 17.02.2009 -OMIM:607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING HP:0001260 Dysarthria IEA IEA OMIM:607225 HPO 17.02.2009 -OMIM:607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING HP:0001270 Motor delay IEA IEA OMIM:607225 HPO 17.02.2009 -OMIM:607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING HP:0001347 Hyperreflexia IEA IEA OMIM:607225 HPO 17.02.2009 -OMIM:607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING HP:0001771 Achilles tendon contracture IEA IEA OMIM:607225 HPO 17.02.2009 -OMIM:607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING HP:0002366 Abnormality of the lower motor neuron IEA IEA OMIM:607225 HPO:skoehler 20.06.2010 -OMIM:607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING HP:0002425 Anarthria IEA IEA OMIM:607225 HPO 17.02.2009 -OMIM:607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING HP:0002445 Tetraplegia IEA IEA OMIM:607225 HPO:skoehler 20.06.2010 -OMIM:607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING HP:0002510 Spastic tetraplegia IEA IEA OMIM:607225 HPO 17.02.2009 -OMIM:607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING HP:0002650 Scoliosis IEA IEA OMIM:607225 HPO 17.02.2009 -OMIM:607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING HP:0003487 Babinski sign IEA IEA OMIM:607225 HPO 17.02.2009 -OMIM:607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING HP:0003593 Infantile onset TAS TAS OMIM:607225 HPO:probinson 17.02.2009 -OMIM:607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING HP:0003677 Slow progression IEA IEA OMIM:607225 HPO 17.02.2009 -OMIM:607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING HP:0005216 Chewing difficulties IEA IEA OMIM:607225 HPO 17.02.2009 -OMIM:607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING HP:0006912 Early involvement of the corticospinal pathways IEA IEA OMIM:607225 HPO 17.02.2009 -OMIM:607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING HP:0007062 Spastic paraplegia, lower limb IEA IEA OMIM:607225 HPO 17.02.2009 +OMIM:607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:607225 HPO Feb 17, 2009 +OMIM:607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING HP:0000020 Urinary incontinence IEA IEA OMIM:607225 HPO:skoehler Jun 18, 2010 +OMIM:607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING HP:0000271 Abnormality of the face IEA IEA OMIM:607225 HPO Feb 17, 2009 +OMIM:607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING HP:0000478 Abnormality of the eye IEA IEA OMIM:607225 HPO Feb 17, 2009 +OMIM:607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING HP:0001260 Dysarthria IEA IEA OMIM:607225 HPO Feb 17, 2009 +OMIM:607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING HP:0001270 Motor delay IEA IEA OMIM:607225 HPO Feb 17, 2009 +OMIM:607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING HP:0001347 Hyperreflexia IEA IEA OMIM:607225 HPO Feb 17, 2009 +OMIM:607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING HP:0001771 Achilles tendon contracture IEA IEA OMIM:607225 HPO Feb 17, 2009 +OMIM:607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING HP:0002366 Abnormality of the lower motor neuron IEA IEA OMIM:607225 HPO:skoehler Jun 20, 2010 +OMIM:607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING HP:0002425 Anarthria IEA IEA OMIM:607225 HPO Feb 17, 2009 +OMIM:607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING HP:0002445 Tetraplegia IEA IEA OMIM:607225 HPO:skoehler Jun 20, 2010 +OMIM:607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING HP:0002510 Spastic tetraplegia IEA IEA OMIM:607225 HPO Feb 17, 2009 +OMIM:607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING HP:0002650 Scoliosis IEA IEA OMIM:607225 HPO Feb 17, 2009 +OMIM:607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING HP:0003487 Babinski sign IEA IEA OMIM:607225 HPO Feb 17, 2009 +OMIM:607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING HP:0003593 Infantile onset TAS TAS OMIM:607225 HPO:probinson Feb 17, 2009 +OMIM:607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING HP:0003677 Slow progression IEA IEA OMIM:607225 HPO Feb 17, 2009 +OMIM:607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING HP:0005216 Chewing difficulties IEA IEA OMIM:607225 HPO Feb 17, 2009 +OMIM:607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING HP:0007062 Spastic paraplegia, lower limb IEA IEA OMIM:607225 HPO Feb 17, 2009 +OMIM:607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING HP:0002492 Abnormality of the corticospinal tract HP:0003593 Infantile onset TAS TAS OMIM:607225 HPO:probinson Nov 23, 2013 This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site. |