From: <pr...@us...> - 2012-07-25 11:36:19
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Revision: 4484 http://obo.svn.sourceforge.net/obo/?rev=4484&view=rev Author: probins Date: 2012-07-25 11:36:11 +0000 (Wed, 25 Jul 2012) Log Message: ----------- Adding ITM annotations Modified Paths: -------------- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-160750.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-221770.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-230900.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-233710.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-259750.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-540000.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-551500.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608033.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608591.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611571.tab Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-160750.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-160750.tab 2012-07-25 11:21:38 UTC (rev 4483) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-160750.tab 2012-07-25 11:36:11 UTC (rev 4484) @@ -1,4 +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:160750 MYOSITIS HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:160750 HPO 17.02.2009 -OMIM:160750 MYOSITIS HP:0003701 Proximal muscle weakness IEA IEA OMIM:160750 HPO 17.02.2009 -OMIM:160750 MYOSITIS HP:0009071 Inflammatory myopathy ITM ITM OMIM:160750 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:160750 MYOSITIS HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:160750 HPO:probinson 17.02.2009 +OMIM:160750 MYOSITIS HP:0003701 Proximal muscle weakness TAS TAS OMIM:160750 HPO:probinson 17.02.2009 +OMIM:160750 MYOSITIS HP:0100614 Myositis TAS TAS OMIM:160750 HPO:probinson 25.07.2012 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-221770.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-221770.tab 2012-07-25 11:21:38 UTC (rev 4483) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-221770.tab 2012-07-25 11:36:11 UTC (rev 4484) @@ -1,32 +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:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:221770 HPO 17.02.2009 -OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0000020 Urinary incontinence IEA IEA OMIM:221770 HPO 17.02.2009 -OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0000718 Aggressive behavior IEA IEA OMIM:221770 HPO 17.02.2009 -OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0000727 Frontal lobe dementia IEA IEA OMIM:221770 HPO 17.02.2009 -OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0000734 Disinhibition IEA IEA OMIM:221770 HPO 17.02.2009 -OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0000751 Personality changes IEA IEA OMIM:221770 HPO 17.02.2009 -OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0000757 Lack of insight IEA IEA OMIM:221770 HPO 17.02.2009 -OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0000969 Edema ITM ITM OMIM:221770 HPO 17.02.2009 -OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0001155 Abnormality of the hand IEA IEA OMIM:221770 HPO 17.02.2009 -OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0001250 Seizures IEA IEA OMIM:221770 HPO 17.02.2009 -OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0001257 Spasticity IEA IEA OMIM:221770 HPO 17.02.2009 -OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0001288 Gait disturbance IEA IEA OMIM:221770 HPO 17.02.2009 -OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0001336 Myoclonus IEA IEA OMIM:221770 HPO 17.02.2009 -OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0001760 Abnormality of the feet IEA IEA OMIM:221770 HPO 17.02.2009 -OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002059 Cerebral atrophy IEA IEA OMIM:221770 HPO 17.02.2009 -OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002127 Upper motor neuron abnormality IEA IEA OMIM:221770 HPO 17.02.2009 -OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002135 Basal ganglia calcification IEA IEA OMIM:221770 HPO 17.02.2009 -OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002167 Neurological speech impairment IEA IEA OMIM:221770 HPO 17.02.2009 -OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002171 Gliosis IEA IEA OMIM:221770 HPO 17.02.2009 -OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002186 Apraxia IEA IEA OMIM:221770 HPO 17.02.2009 -OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002319 Thin corpus callosum IEA IEA OMIM:221770 HPO 17.02.2009 -OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002340 Caudate atrophy IEA IEA OMIM:221770 HPO 17.02.2009 -OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002352 Leukoencephalopathy IEA IEA OMIM:221770 HPO 17.02.2009 -OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002353 EEG abnormality IEA IEA OMIM:221770 HPO 17.02.2009 -OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002354 Memory impairment IEA IEA OMIM:221770 SKOEHLER 20.06.2010 -OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002476 Primitive reflexes (palmomental, snout, glabellar) IEA IEA OMIM:221770 HPO 17.02.2009 -OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002756 Pathologic fracture IEA IEA OMIM:221770 HPO 17.02.2009 -OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0003447 Axonal loss IEA IEA OMIM:221770 HPO 17.02.2009 -OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0003487 Babinski sign IEA IEA OMIM:221770 HPO 17.02.2009 -OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0010524 Agnosia IEA IEA OMIM:221770 SKOEHLER 18.06.2010 -OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0011096 Peripheral demyelination IEA IEA OMIM:221770 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:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:221770 HPO 17.02.2009 +OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0000020 Urinary incontinence IEA IEA OMIM:221770 HPO 17.02.2009 +OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0000718 Aggressive behavior IEA IEA OMIM:221770 HPO 17.02.2009 +OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0000727 Frontal lobe dementia IEA IEA OMIM:221770 HPO 17.02.2009 +OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0000734 Disinhibition IEA IEA OMIM:221770 HPO 17.02.2009 +OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0000751 Personality changes IEA IEA OMIM:221770 HPO 17.02.2009 +OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0000757 Lack of insight IEA IEA OMIM:221770 HPO 17.02.2009 +OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0001155 Abnormality of the hand IEA IEA OMIM:221770 HPO 17.02.2009 +OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0001250 Seizures IEA IEA OMIM:221770 HPO 17.02.2009 +OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0001257 Spasticity IEA IEA OMIM:221770 HPO 17.02.2009 +OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0001288 Gait disturbance IEA IEA OMIM:221770 HPO 17.02.2009 +OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0001336 Myoclonus IEA IEA OMIM:221770 HPO 17.02.2009 +OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0001760 Abnormality of the foot IEA IEA OMIM:221770 HPO 17.02.2009 +OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002059 Cerebral atrophy IEA IEA OMIM:221770 HPO 17.02.2009 +OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002127 Upper motor neuron abnormality IEA IEA OMIM:221770 HPO 17.02.2009 +OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002135 Basal ganglia calcification IEA IEA OMIM:221770 HPO 17.02.2009 +OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002167 Neurological speech impairment IEA IEA OMIM:221770 HPO 17.02.2009 +OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002171 Gliosis IEA IEA OMIM:221770 HPO 17.02.2009 +OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002186 Apraxia IEA IEA OMIM:221770 HPO 17.02.2009 +OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002319 Thin corpus callosum IEA IEA OMIM:221770 HPO 17.02.2009 +OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002340 Caudate atrophy IEA IEA OMIM:221770 HPO 17.02.2009 +OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002352 Leukoencephalopathy IEA IEA OMIM:221770 HPO 17.02.2009 +OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002353 EEG abnormality IEA IEA OMIM:221770 HPO 17.02.2009 +OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002354 Memory impairment IEA IEA OMIM:221770 SKOEHLER 20.06.2010 +OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002476 Primitive reflexes (palmomental, snout, glabellar) IEA IEA OMIM:221770 HPO 17.02.2009 +OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002756 Pathologic fracture IEA IEA OMIM:221770 HPO 17.02.2009 +OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0003447 Axonal loss IEA IEA OMIM:221770 HPO 17.02.2009 +OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0003487 Babinski sign IEA IEA OMIM:221770 HPO 17.02.2009 +OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0010524 Agnosia IEA IEA OMIM:221770 SKOEHLER 18.06.2010 +OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0011096 Peripheral demyelination IEA IEA OMIM:221770 HPO 17.02.2009 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-230900.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-230900.tab 2012-07-25 11:21:38 UTC (rev 4483) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-230900.tab 2012-07-25 11:36:11 UTC (rev 4484) @@ -1,24 +1,23 @@ -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:230900 GAUCHER DISEASE, TYPE II HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:230900 HPO 17.02.2009 -OMIM:230900 GAUCHER DISEASE, TYPE II HP:0000211 Trismus IEA IEA OMIM:230900 HPO 17.02.2009 -OMIM:230900 GAUCHER DISEASE, TYPE II HP:0000486 Strabismus IEA IEA OMIM:230900 SKOEHLER 18.06.2010 -OMIM:230900 GAUCHER DISEASE, TYPE II HP:0000565 Esotropia ITM ITM OMIM:230900 HPO 17.02.2009 -OMIM:230900 GAUCHER DISEASE, TYPE II HP:0000657 Oculomotor apraxia IEA IEA OMIM:230900 HPO 17.02.2009 -OMIM:230900 GAUCHER DISEASE, TYPE II HP:0001250 Seizures IEA IEA OMIM:230900 HPO 17.02.2009 -OMIM:230900 GAUCHER DISEASE, TYPE II HP:0001257 Spasticity IEA IEA OMIM:230900 HPO 17.02.2009 -OMIM:230900 GAUCHER DISEASE, TYPE II HP:0001263 Global developmental delay IEA IEA OMIM:230900 HPO 17.02.2009 -OMIM:230900 GAUCHER DISEASE, TYPE II HP:0001347 Hyperreflexia IEA IEA OMIM:230900 HPO 17.02.2009 -OMIM:230900 GAUCHER DISEASE, TYPE II HP:0001508 Failure to thrive IEA IEA OMIM:230900 HPO 17.02.2009 -OMIM:230900 GAUCHER DISEASE, TYPE II HP:0001744 Splenomegaly IEA IEA OMIM:230900 HPO 17.02.2009 -OMIM:230900 GAUCHER DISEASE, TYPE II HP:0001873 Thrombocytopenia IEA IEA OMIM:230900 HPO 17.02.2009 -OMIM:230900 GAUCHER DISEASE, TYPE II HP:0001903 Anemia IEA IEA OMIM:230900 HPO 17.02.2009 -OMIM:230900 GAUCHER DISEASE, TYPE II HP:0002015 Dysphagia IEA IEA OMIM:230900 HPO 17.02.2009 -OMIM:230900 GAUCHER DISEASE, TYPE II HP:0002059 Cerebral atrophy IEA IEA OMIM:230900 HPO 17.02.2009 -OMIM:230900 GAUCHER DISEASE, TYPE II HP:0002063 Rigidity IEA IEA OMIM:230900 HPO 17.02.2009 -OMIM:230900 GAUCHER DISEASE, TYPE II HP:0002100 Recurrent aspiration pneumonia IEA IEA OMIM:230900 HPO 17.02.2009 -OMIM:230900 GAUCHER DISEASE, TYPE II HP:0002104 Apnea IEA IEA OMIM:230900 HPO 17.02.2009 -OMIM:230900 GAUCHER DISEASE, TYPE II HP:0002240 Hepatomegaly IEA IEA OMIM:230900 HPO 17.02.2009 -OMIM:230900 GAUCHER DISEASE, TYPE II HP:0002344 Progressive neurologic deterioration IEA IEA OMIM:230900 HPO 17.02.2009 -OMIM:230900 GAUCHER DISEASE, TYPE II HP:0002483 Bulbar signs IEA IEA OMIM:230900 HPO 17.02.2009 -OMIM:230900 GAUCHER DISEASE, TYPE II HP:0004298 Abnormality of the abdominal wall IEA IEA OMIM:230900 HPO 17.02.2009 -OMIM:230900 GAUCHER DISEASE, TYPE II HP:0006511 Laryngeal stridor ITM ITM OMIM:230900 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:230900 GAUCHER DISEASE, TYPE II HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:230900 HPO 17.02.2009 +OMIM:230900 GAUCHER DISEASE, TYPE II HP:0000211 Trismus IEA IEA OMIM:230900 HPO 17.02.2009 +OMIM:230900 GAUCHER DISEASE, TYPE II HP:0000486 Strabismus IEA IEA OMIM:230900 SKOEHLER 18.06.2010 +OMIM:230900 GAUCHER DISEASE, TYPE II HP:0000565 Esotropia TAS TAS OMIM:230900 HPO:skoehler 17.02.2009 +OMIM:230900 GAUCHER DISEASE, TYPE II HP:0000657 Oculomotor apraxia IEA IEA OMIM:230900 HPO 17.02.2009 +OMIM:230900 GAUCHER DISEASE, TYPE II HP:0001250 Seizures IEA IEA OMIM:230900 HPO 17.02.2009 +OMIM:230900 GAUCHER DISEASE, TYPE II HP:0001257 Spasticity IEA IEA OMIM:230900 HPO 17.02.2009 +OMIM:230900 GAUCHER DISEASE, TYPE II HP:0001263 Global developmental delay IEA IEA OMIM:230900 HPO 17.02.2009 +OMIM:230900 GAUCHER DISEASE, TYPE II HP:0001347 Hyperreflexia IEA IEA OMIM:230900 HPO 17.02.2009 +OMIM:230900 GAUCHER DISEASE, TYPE II HP:0001508 Failure to thrive IEA IEA OMIM:230900 HPO 17.02.2009 +OMIM:230900 GAUCHER DISEASE, TYPE II HP:0001744 Splenomegaly IEA IEA OMIM:230900 HPO 17.02.2009 +OMIM:230900 GAUCHER DISEASE, TYPE II HP:0001873 Thrombocytopenia IEA IEA OMIM:230900 HPO 17.02.2009 +OMIM:230900 GAUCHER DISEASE, TYPE II HP:0001903 Anemia IEA IEA OMIM:230900 HPO 17.02.2009 +OMIM:230900 GAUCHER DISEASE, TYPE II HP:0002015 Dysphagia IEA IEA OMIM:230900 HPO 17.02.2009 +OMIM:230900 GAUCHER DISEASE, TYPE II HP:0002059 Cerebral atrophy IEA IEA OMIM:230900 HPO 17.02.2009 +OMIM:230900 GAUCHER DISEASE, TYPE II HP:0002063 Rigidity IEA IEA OMIM:230900 HPO 17.02.2009 +OMIM:230900 GAUCHER DISEASE, TYPE II HP:0002100 Recurrent aspiration pneumonia IEA IEA OMIM:230900 HPO 17.02.2009 +OMIM:230900 GAUCHER DISEASE, TYPE II HP:0002104 Apnea IEA IEA OMIM:230900 HPO 17.02.2009 +OMIM:230900 GAUCHER DISEASE, TYPE II HP:0002240 Hepatomegaly IEA IEA OMIM:230900 HPO 17.02.2009 +OMIM:230900 GAUCHER DISEASE, TYPE II HP:0002344 Progressive neurologic deterioration IEA IEA OMIM:230900 HPO 17.02.2009 +OMIM:230900 GAUCHER DISEASE, TYPE II HP:0002483 Bulbar signs IEA IEA OMIM:230900 HPO 17.02.2009 +OMIM:230900 GAUCHER DISEASE, TYPE II HP:0001538 Protuberant abdomen TAS TAS OMIM:230900 HPO:probinson 25.07.2012 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-233710.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-233710.tab 2012-07-25 11:21:38 UTC (rev 4483) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-233710.tab 2012-07-25 11:36:11 UTC (rev 4484) @@ -1,26 +1,26 @@ -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:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:233710 HPO 17.02.2009 -OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0000976 Eczematoid dermatitis IEA IEA OMIM:233710 HPO 17.02.2009 -OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0000981 Discoid lupus in carriers or adults with mild disease IEA IEA OMIM:233710 HPO 17.02.2009 -OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0001400 Hepatic abscesses due to immunodeficiency IEA IEA OMIM:233710 HPO 17.02.2009 -OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0001744 Splenomegaly IEA IEA OMIM:233710 HPO 17.02.2009 -OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0002096 Recurrent pneumonia due to immunodeficiency IEA IEA OMIM:233710 HPO 17.02.2009 -OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0002240 Hepatomegaly IEA IEA OMIM:233710 HPO 17.02.2009 -OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0002716 Lymphadenopathy IEA IEA OMIM:233710 HPO 17.02.2009 -OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0002723 Absence of bactericidal oxidative 'respiratory burst' in phagocytes IEA IEA OMIM:233710 HPO 17.02.2009 -OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0002724 Recurrent Aspergillus infections IEA IEA OMIM:233710 HPO 17.02.2009 -OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0002726 Recurrent Staphylococcus aureus infections IEA IEA OMIM:233710 HPO 17.02.2009 -OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0002740 Recurrent E. coli infections IEA IEA OMIM:233710 HPO 17.02.2009 -OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0002741 Recurrent Serratia marcescens infections IEA IEA OMIM:233710 HPO 17.02.2009 -OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0002742 Recurrent Klebsiella infections IEA IEA OMIM:233710 HPO 17.02.2009 -OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0002755 Osteomyelitis due to immunodeficiency IEA IEA OMIM:233710 HPO 17.02.2009 -OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0002840 Lymphadenitis IEA IEA OMIM:233710 HPO 17.02.2009 -OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0002842 Recurrent Burkholderia cepacia infections IEA IEA OMIM:233710 HPO 17.02.2009 -OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0002955 Granulomatosis IEA IEA OMIM:233710 HPO 17.02.2009 -OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0003203 Negative nitroblue tetrazolium (NBT) reduction test IEA IEA OMIM:233710 HPO 17.02.2009 -OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0003206 Decreased activity of NADPH oxidase IEA IEA OMIM:233710 HPO 17.02.2009 -OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0003553 Cellulitis due to immunodeficiency IEA IEA OMIM:233710 HPO 17.02.2009 -OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0003621 Juvenile onset IEA IEA OMIM:233710 HPO 17.02.2009 -OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0005224 Rectal abscess IEA IEA OMIM:233710 HPO 17.02.2009 -OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0005224 Rectal abscess ITM ITM OMIM:233710 HPO 17.02.2009 -OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0005406 Recurrent bacterial skin infections IEA IEA OMIM:233710 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:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:233710 HPO 17.02.2009 +OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0000976 Eczematoid dermatitis IEA IEA OMIM:233710 HPO 17.02.2009 +OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0000981 Discoid lupus in carriers or adults with mild disease IEA IEA OMIM:233710 HPO 17.02.2009 +OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0001400 Hepatic abscesses due to immunodeficiency IEA IEA OMIM:233710 HPO 17.02.2009 +OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0001744 Splenomegaly IEA IEA OMIM:233710 HPO 17.02.2009 +OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0002096 Recurrent pneumonia due to immunodeficiency IEA IEA OMIM:233710 HPO 17.02.2009 +OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0002240 Hepatomegaly IEA IEA OMIM:233710 HPO 17.02.2009 +OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0002716 Lymphadenopathy IEA IEA OMIM:233710 HPO 17.02.2009 +OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0002723 Absence of bactericidal oxidative 'respiratory burst' in phagocytes IEA IEA OMIM:233710 HPO 17.02.2009 +OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0002724 Recurrent Aspergillus infections IEA IEA OMIM:233710 HPO 17.02.2009 +OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0002726 Recurrent Staphylococcus aureus infections IEA IEA OMIM:233710 HPO 17.02.2009 +OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0002740 Recurrent E. coli infections IEA IEA OMIM:233710 HPO 17.02.2009 +OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0002741 Recurrent Serratia marcescens infections IEA IEA OMIM:233710 HPO 17.02.2009 +OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0002742 Recurrent Klebsiella infections IEA IEA OMIM:233710 HPO 17.02.2009 +OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0002755 Osteomyelitis due to immunodeficiency IEA IEA OMIM:233710 HPO 17.02.2009 +OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0002840 Lymphadenitis IEA IEA OMIM:233710 HPO 17.02.2009 +OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0002842 Recurrent Burkholderia cepacia infections IEA IEA OMIM:233710 HPO 17.02.2009 +OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0002955 Granulomatosis IEA IEA OMIM:233710 HPO 17.02.2009 +OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0003203 Negative nitroblue tetrazolium (NBT) reduction test IEA IEA OMIM:233710 HPO 17.02.2009 +OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0003206 Decreased activity of NADPH oxidase IEA IEA OMIM:233710 HPO 17.02.2009 +OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0003553 Cellulitis due to immunodeficiency IEA IEA OMIM:233710 HPO 17.02.2009 +OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0003621 Juvenile onset IEA IEA OMIM:233710 HPO 17.02.2009 +OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0005224 Rectal abscess IEA IEA OMIM:233710 HPO 17.02.2009 +OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0005224 Rectal abscess TAS TAS OMIM:233710 HPO:skoehler 17.02.2009 +OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II HP:0005406 Recurrent bacterial skin infections IEA IEA OMIM:233710 HPO 17.02.2009 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-259750.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-259750.tab 2012-07-25 11:21:38 UTC (rev 4483) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-259750.tab 2012-07-25 11:36:11 UTC (rev 4484) @@ -1,3 +1,5 @@ -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:259750 OSTEOPOROSIS, JUVENILE HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:259750 HPO 17.02.2009 -OMIM:259750 OSTEOPOROSIS, JUVENILE HP:0000939 Osteoporosis ITM ITM OMIM:259750 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:259750 OSTEOPOROSIS, JUVENILE HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:259750 HPO 17.02.2009 +OMIM:259750 OSTEOPOROSIS, JUVENILE HP:0000939 Osteoporosis TAS TAS OMIM:259750 HPO 17.02.2009 +OMIM:259750 OSTEOPOROSIS, JUVENILE HP:0000591 Abnormality of the sclera TAS TAS NOT NOT OMIM:259750 HPO 25.07.2012 +OMIM:259750 OSTEOPOROSIS, JUVENILE HP:0000082 Abnormality of renal physiology TAS TAS NOT NOT OMIM:259750 HPO 25.07.2012 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-540000.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-540000.tab 2012-07-25 11:21:38 UTC (rev 4483) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-540000.tab 2012-07-25 11:36:11 UTC (rev 4484) @@ -1,19 +1,18 @@ -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:540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKEEPISODES HP:0000408 Progressive sensorineural hearing impairment IEA IEA OMIM:540000 HPO 17.02.2009 -OMIM:540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKEEPISODES HP:0000519 Congenital cataract IEA IEA OMIM:540000 HPO 17.02.2009 -OMIM:540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKEEPISODES HP:0000726 Dementia IEA IEA OMIM:540000 HPO 17.02.2009 -OMIM:540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKEEPISODES HP:0001269 Hemiparesis IEA IEA OMIM:540000 HPO 17.02.2009 -OMIM:540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKEEPISODES HP:0001298 Encephalopathy IEA IEA OMIM:540000 HPO 17.02.2009 -OMIM:540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKEEPISODES HP:0001427 Mitochondrial inheritance IEA IEA OMIM:540000 HPO 17.02.2009 -OMIM:540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKEEPISODES HP:0001507 Growth abnormality IEA IEA OMIM:540000 HPO 17.02.2009 -OMIM:540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKEEPISODES HP:0001942 Metabolic acidosis ITM ITM OMIM:540000 HPO 17.02.2009 -OMIM:540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKEEPISODES HP:0002069 Generalized tonic-clonic seizures ITM ITM OMIM:540000 HPO 17.02.2009 -OMIM:540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKEEPISODES HP:0002076 Migraine IEA IEA OMIM:540000 HPO 17.02.2009 -OMIM:540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKEEPISODES HP:0002401 Stroke-like episodes IEA IEA OMIM:540000 HPO 17.02.2009 -OMIM:540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKEEPISODES HP:0002572 Episodic vomiting IEA IEA OMIM:540000 HPO 17.02.2009 -OMIM:540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKEEPISODES HP:0003128 Lactic acidosis IEA IEA OMIM:540000 HPO 17.02.2009 -OMIM:540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKEEPISODES HP:0003198 Myopathy IEA IEA OMIM:540000 HPO 17.02.2009 -OMIM:540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKEEPISODES HP:0003200 Ragged-red muscle fibers IEA IEA OMIM:540000 HPO 17.02.2009 -OMIM:540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKEEPISODES HP:0003737 Mitochondrial myopathy ITM ITM OMIM:540000 HPO 17.02.2009 -OMIM:540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKEEPISODES HP:0008619 Bilateral sensorineural hearing impairment IEA IEA OMIM:540000 SKOEHLER 20.06.2010 -OMIM:540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKEEPISODES HP:0100704 Cortical visual impairment IEA IEA OMIM:540000 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:540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKEEPISODES HP:0000408 Progressive sensorineural hearing impairment IEA IEA OMIM:540000 HPO 17.02.2009 +OMIM:540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKEEPISODES HP:0000519 Congenital cataract IEA IEA OMIM:540000 HPO 17.02.2009 +OMIM:540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKEEPISODES HP:0000726 Dementia IEA IEA OMIM:540000 HPO 17.02.2009 +OMIM:540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKEEPISODES HP:0001269 Hemiparesis IEA IEA OMIM:540000 HPO 17.02.2009 +OMIM:540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKEEPISODES HP:0001298 Encephalopathy IEA IEA OMIM:540000 HPO 17.02.2009 +OMIM:540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKEEPISODES HP:0001427 Mitochondrial inheritance IEA IEA OMIM:540000 HPO 17.02.2009 +OMIM:540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKEEPISODES HP:0001507 Growth abnormality IEA IEA OMIM:540000 HPO 17.02.2009 +OMIM:540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKEEPISODES HP:0002069 Generalized tonic-clonic seizures TAS TAS OMIM:540000 HPO:skoehler 17.02.2009 +OMIM:540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKEEPISODES HP:0002076 Migraine IEA IEA OMIM:540000 HPO 17.02.2009 +OMIM:540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKEEPISODES HP:0002401 Stroke-like episodes IEA IEA OMIM:540000 HPO 17.02.2009 +OMIM:540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKEEPISODES HP:0002572 Episodic vomiting IEA IEA OMIM:540000 HPO 17.02.2009 +OMIM:540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKEEPISODES HP:0003128 Lactic acidosis TAS TAS OMIM:540000 HPO:probinson 17.02.2009 +OMIM:540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKEEPISODES HP:0003198 Myopathy IEA IEA OMIM:540000 HPO 17.02.2009 +OMIM:540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKEEPISODES HP:0003200 Ragged-red muscle fibers TAS TAS OMIM:540000 HPO:probinson 17.02.2009 +OMIM:540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKEEPISODES HP:0003737 Mitochondrial myopathy TAS TAS OMIM:540000 HPO:skoehler 17.02.2009 +OMIM:540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKEEPISODES HP:0008619 Bilateral sensorineural hearing impairment IEA IEA OMIM:540000 HPO:skoehler 20.06.2010 +OMIM:540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKEEPISODES HP:0100704 Cortical visual impairment IEA IEA OMIM:540000 HPO 17.02.2009 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-551500.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-551500.tab 2012-07-25 11:21:38 UTC (rev 4483) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-551500.tab 2012-07-25 11:36:11 UTC (rev 4484) @@ -1,18 +1,15 @@ -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:551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA HP:0000488 Retinopathy ITM ITM OMIM:551500 HPO 17.02.2009 -OMIM:551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA HP:0000510 Retinitis pigmentosa IEA IEA OMIM:551500 HPO 17.02.2009 -OMIM:551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA HP:0000618 Blindness IEA IEA OMIM:551500 HPO 17.02.2009 -OMIM:551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA HP:0000639 Nystagmus IEA IEA OMIM:551500 HPO 17.02.2009 -OMIM:551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA HP:0000726 Dementia IEA IEA OMIM:551500 HPO 17.02.2009 -OMIM:551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA HP:0000763 Sensory neuropathy IEA IEA OMIM:551500 HPO 17.02.2009 -OMIM:551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA HP:0001250 Seizures IEA IEA OMIM:551500 HPO 17.02.2009 -OMIM:551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA HP:0001251 Ataxia IEA IEA OMIM:551500 HPO 17.02.2009 -OMIM:551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA HP:0001263 Global developmental delay IEA IEA OMIM:551500 HPO 17.02.2009 -OMIM:551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA HP:0001427 Mitochondrial inheritance IEA IEA OMIM:551500 HPO 17.02.2009 -OMIM:551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:551500 HPO 17.02.2009 -OMIM:551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA HP:0003198 Myopathy IEA IEA OMIM:551500 SKOEHLER 20.06.2010 -OMIM:551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA HP:0003737 Mitochondrial myopathy IEA IEA OMIM:551500 SKOEHLER 20.06.2010 -OMIM:551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA HP:0007117 Corticospinal tract atrophy IEA IEA OMIM:551500 HPO 17.02.2009 -OMIM:551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA HP:0007195 Proximal neurogenic muscle weakness IEA IEA OMIM:551500 HPO 17.02.2009 -OMIM:551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA HP:0007814 Salt and pepper retinopathy IEA IEA OMIM:551500 HPO 17.02.2009 -OMIM:551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA HP:0009830 Peripheral neuropathy ITM ITM OMIM:551500 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:551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA HP:0000510 Retinitis pigmentosa IEA IEA OMIM:551500 HPO 17.02.2009 +OMIM:551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA HP:0000618 Blindness IEA IEA OMIM:551500 HPO 17.02.2009 +OMIM:551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA HP:0000639 Nystagmus IEA IEA OMIM:551500 HPO 17.02.2009 +OMIM:551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA HP:0000726 Dementia IEA IEA OMIM:551500 HPO 17.02.2009 +OMIM:551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA HP:0000763 Sensory neuropathy TAS TAS OMIM:551500 HPO:probinson 17.02.2009 +OMIM:551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA HP:0001250 Seizures IEA IEA OMIM:551500 HPO 17.02.2009 +OMIM:551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA HP:0001251 Ataxia IEA IEA OMIM:551500 HPO 17.02.2009 +OMIM:551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA HP:0001263 Global developmental delay IEA IEA OMIM:551500 HPO 17.02.2009 +OMIM:551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA HP:0001427 Mitochondrial inheritance IEA IEA OMIM:551500 HPO 17.02.2009 +OMIM:551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA HP:0003198 Myopathy IEA IEA OMIM:551500 SKOEHLER 20.06.2010 +OMIM:551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA HP:0003737 Mitochondrial myopathy IEA IEA OMIM:551500 SKOEHLER 20.06.2010 +OMIM:551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA HP:0007117 Corticospinal tract atrophy IEA IEA OMIM:551500 HPO 17.02.2009 +OMIM:551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA HP:0007195 Proximal neurogenic muscle weakness IEA IEA OMIM:551500 HPO 17.02.2009 +OMIM:551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA HP:0007814 Salt and pepper retinopathy IEA IEA OMIM:551500 HPO 17.02.2009 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608033.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608033.tab 2012-07-25 11:21:38 UTC (rev 4483) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608033.tab 2012-07-25 11:36:11 UTC (rev 4484) @@ -1,16 +1,14 @@ -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:608033 NECROTIZING ENCEPHALOPATHY, ACUTE, AUTOSOMAL DOMINANT HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:608033 HPO 17.02.2009 -OMIM:608033 NECROTIZING ENCEPHALOPATHY, ACUTE, AUTOSOMAL DOMINANT HP:0001249 Intellectual disability ITM ITM OMIM:608033 HPO 17.02.2009 -OMIM:608033 NECROTIZING ENCEPHALOPATHY, ACUTE, AUTOSOMAL DOMINANT HP:0001250 Seizures IEA IEA OMIM:608033 HPO 17.02.2009 -OMIM:608033 NECROTIZING ENCEPHALOPATHY, ACUTE, AUTOSOMAL DOMINANT HP:0001259 Coma IEA IEA OMIM:608033 HPO 17.02.2009 -OMIM:608033 NECROTIZING ENCEPHALOPATHY, ACUTE, AUTOSOMAL DOMINANT HP:0001276 Hypertonia IEA IEA OMIM:608033 HPO 17.02.2009 -OMIM:608033 NECROTIZING ENCEPHALOPATHY, ACUTE, AUTOSOMAL DOMINANT HP:0001298 Encephalopathy ITM ITM OMIM:608033 HPO 17.02.2009 -OMIM:608033 NECROTIZING ENCEPHALOPATHY, ACUTE, AUTOSOMAL DOMINANT HP:0001892 Bleeding diathesis ITM ITM OMIM:608033 HPO 17.02.2009 -OMIM:608033 NECROTIZING ENCEPHALOPATHY, ACUTE, AUTOSOMAL DOMINANT HP:0002090 Pneumonia IEA IEA OMIM:608033 SKOEHLER 20.06.2010 -OMIM:608033 NECROTIZING ENCEPHALOPATHY, ACUTE, AUTOSOMAL DOMINANT HP:0002171 Gliosis IEA IEA OMIM:608033 HPO 17.02.2009 -OMIM:608033 NECROTIZING ENCEPHALOPATHY, ACUTE, AUTOSOMAL DOMINANT HP:0002181 Cerebral edema IEA IEA OMIM:608033 HPO 17.02.2009 -OMIM:608033 NECROTIZING ENCEPHALOPATHY, ACUTE, AUTOSOMAL DOMINANT HP:0002445 Tetraplegia IEA IEA rare OMIM:608033 SKOEHLER 20.06.2010 -OMIM:608033 NECROTIZING ENCEPHALOPATHY, ACUTE, AUTOSOMAL DOMINANT HP:0002510 Spastic tetraplegia ITM ITM OMIM:608033 HPO 17.02.2009 -OMIM:608033 NECROTIZING ENCEPHALOPATHY, ACUTE, AUTOSOMAL DOMINANT HP:0002715 Abnormality of the immune system IEA IEA OMIM:608033 HPO 17.02.2009 -OMIM:608033 NECROTIZING ENCEPHALOPATHY, ACUTE, AUTOSOMAL DOMINANT HP:0002922 Increased CSF protein ITM ITM OMIM:608033 HPO 17.02.2009 -OMIM:608033 NECROTIZING ENCEPHALOPATHY, ACUTE, AUTOSOMAL DOMINANT HP:0003593 Infantile onset IEA IEA OMIM:608033 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:608033 NECROTIZING ENCEPHALOPATHY, ACUTE, AUTOSOMAL DOMINANT HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:608033 HPO 17.02.2009 +OMIM:608033 NECROTIZING ENCEPHALOPATHY, ACUTE, AUTOSOMAL DOMINANT HP:0001250 Seizures IEA IEA OMIM:608033 HPO 17.02.2009 +OMIM:608033 NECROTIZING ENCEPHALOPATHY, ACUTE, AUTOSOMAL DOMINANT HP:0001259 Coma IEA IEA OMIM:608033 HPO 17.02.2009 +OMIM:608033 NECROTIZING ENCEPHALOPATHY, ACUTE, AUTOSOMAL DOMINANT HP:0001276 Hypertonia IEA IEA OMIM:608033 HPO 17.02.2009 +OMIM:608033 NECROTIZING ENCEPHALOPATHY, ACUTE, AUTOSOMAL DOMINANT HP:0001298 Encephalopathy TAS TAS OMIM:608033 HPO:skoehler 17.02.2009 +OMIM:608033 NECROTIZING ENCEPHALOPATHY, ACUTE, AUTOSOMAL DOMINANT HP:0002090 Pneumonia IEA IEA OMIM:608033 HPO:skoehler 20.06.2010 +OMIM:608033 NECROTIZING ENCEPHALOPATHY, ACUTE, AUTOSOMAL DOMINANT HP:0002171 Gliosis IEA IEA OMIM:608033 HPO 17.02.2009 +OMIM:608033 NECROTIZING ENCEPHALOPATHY, ACUTE, AUTOSOMAL DOMINANT HP:0002181 Cerebral edema IEA IEA OMIM:608033 HPO 17.02.2009 +OMIM:608033 NECROTIZING ENCEPHALOPATHY, ACUTE, AUTOSOMAL DOMINANT HP:0002445 Tetraplegia IEA IEA rare OMIM:608033 HPO:skoehler 20.06.2010 +OMIM:608033 NECROTIZING ENCEPHALOPATHY, ACUTE, AUTOSOMAL DOMINANT HP:0002510 Spastic tetraplegia TAS TAS OMIM:608033 HPO:skoehler 17.02.2009 +OMIM:608033 NECROTIZING ENCEPHALOPATHY, ACUTE, AUTOSOMAL DOMINANT HP:0002715 Abnormality of the immune system IEA IEA OMIM:608033 HPO 17.02.2009 +OMIM:608033 NECROTIZING ENCEPHALOPATHY, ACUTE, AUTOSOMAL DOMINANT HP:0002922 Increased CSF protein TAS TAS During acute illness OMIM:608033 HPO:probinson 17.02.2009 +OMIM:608033 NECROTIZING ENCEPHALOPATHY, ACUTE, AUTOSOMAL DOMINANT HP:0003593 Infantile onset IEA IEA OMIM:608033 HPO 17.02.2009 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608591.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608591.tab 2012-07-25 11:21:38 UTC (rev 4483) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608591.tab 2012-07-25 11:36:11 UTC (rev 4484) @@ -1,16 +1,15 @@ 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 -MIM:608591 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009 -MIM:608591 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G HP:0001265 Hyporeflexia IEA IEA 17.02.2009 -MIM:608591 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G HP:0001284 Areflexia IEA IEA 17.02.2009 -MIM:608591 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G HP:0001761 Pes cavus IEA IEA 17.02.2009 -MIM:608591 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G HP:0001765 Hammertoe IEA IEA 17.02.2009 -MIM:608591 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G HP:0002934 Distal limb muscle atrophy due to peripheral neuropathy IEA IEA 17.02.2009 -MIM:608591 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G HP:0002935 Distal limb muscle weakness due to peripheral neuropathy IEA IEA 17.02.2009 -MIM:608591 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G HP:0002936 Distal sensory impairment IEA IEA 17.02.2009 -MIM:608591 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G HP:0003376 Steppage gait IEA IEA 17.02.2009 -MIM:608591 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G HP:0003378 Axonal degeneration/regeneration IEA IEA 17.02.2009 -MIM:608591 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G HP:0003384 Peripheral axonal atrophy IEA IEA 17.02.2009 -MIM:608591 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G HP:0003677 Slow progression IEA IEA 17.02.2009 -MIM:608591 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G HP:0003693 Distal amyotrophy ITM ITM 17.02.2009 -MIM:608591 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G HP:0003431 Decreased motor nerve conduction velocity PCS PCS Mild MIM:608591 probinson 12.03.2012 -MIM:608591 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G HP:0003380 Decreased number of peripheral myelinated nerve fibers PCS PCS MIM:608591 probinson 12.03.2012 +MIM:608591 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G HP:0000006 Autosomal dominant inheritance IEA IEA MIM:608591 17.02.2009 +MIM:608591 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G HP:0001265 Hyporeflexia IEA IEA MIM:608591 17.02.2009 +MIM:608591 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G HP:0001284 Areflexia IEA IEA MIM:608591 17.02.2009 +MIM:608591 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G HP:0001761 Pes cavus IEA IEA MIM:608591 17.02.2009 +MIM:608591 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G HP:0001765 Hammertoe IEA IEA MIM:608591 17.02.2009 +MIM:608591 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G HP:0002936 Distal sensory impairment IEA IEA MIM:608591 17.02.2009 +MIM:608591 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G HP:0003376 Steppage gait IEA IEA MIM:608591 17.02.2009 +MIM:608591 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G HP:0003378 Axonal degeneration/regeneration IEA IEA MIM:608591 17.02.2009 +MIM:608591 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G HP:0003384 Peripheral axonal atrophy IEA IEA MIM:608591 17.02.2009 +MIM:608591 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G HP:0003677 Slow progression IEA IEA MIM:608591 17.02.2009 +MIM:608591 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G HP:0003693 Distal amyotrophy TAS TAS MIM:608591 HPO:skoehler 17.02.2009 +MIM:608591 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G HP:0003431 Decreased motor nerve conduction velocity TAS TAS Mild MIM:608591 probinson 12.03.2012 +MIM:608591 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G HP:0003380 Decreased number of peripheral myelinated nerve fibers TAS TAS MIM:608591 probinson 12.03.2012 +MIM:608591 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G HP:0002460 Distal muscle weakness TAS TAS MIM:608591 HPO:skoehler 25.07.2012 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611571.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611571.tab 2012-07-25 11:21:38 UTC (rev 4483) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611571.tab 2012-07-25 11:36:11 UTC (rev 4484) @@ -1,4 +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:611571 OTOSCLEROSIS 4 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:611571 HPO 17.02.2009 -OMIM:611571 OTOSCLEROSIS 4 HP:0000362 Otosclerosis IEA IEA OMIM:611571 HPO 17.02.2009 -OMIM:611571 OTOSCLEROSIS 4 HP:0000407 Sensorineural hearing impairment ITM ITM OMIM:611571 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:611571 OTOSCLEROSIS 4 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:611571 HPO 17.02.2009 +OMIM:611571 OTOSCLEROSIS 4 HP:0000362 Otosclerosis IEA IEA OMIM:611571 HPO 17.02.2009 +OMIM:611571 OTOSCLEROSIS 4 HP:0000410 Mixed hearing impairment TAS TAS OMIM:611571 HPO:probinson 25.07.2012 This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site. |