From: <pr...@us...> - 2012-04-25 21:30:42
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Revision: 4268 http://obo.svn.sourceforge.net/obo/?rev=4268&view=rev Author: probins Date: 2012-04-25 21:30:35 +0000 (Wed, 25 Apr 2012) Log Message: ----------- adding more corrected annotations Modified Paths: -------------- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-181405.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-187300.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-205250.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-270550.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606183.tab Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-181405.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-181405.tab 2012-04-25 14:37:38 UTC (rev 4267) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-181405.tab 2012-04-25 21:30:35 UTC (rev 4268) @@ -1,6 +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 -MIM:181405 SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY HP:0000006 Autosomal dominant inheritance TAS TAS MIM:181405 probinson 11.04.2012 -MIM:181405 SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY HP:0003634 Generalized amyoplasia TAS TAS MIM:181405 probinson 11.04.2012 -MIM:181405 SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY HP:0008957 Progressive scapuloperoneal atrophy TAS TAS MIM:181405 probinson 11.04.2012 -MIM:181405 SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY HP:0009063 Progressive distal muscle weakness TAS TAS MIM:181405 probinson 11.04.2012 -MIM:181405 SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY HP:0008955 Progressive distal muscular atrophy TAS TAS MIM:181405 probinson 11.04.2012 +MIM:181405 SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY HP:0000006 Autosomal dominant inheritance TAS TAS MIM:181405 probinson 11.04.2012 +MIM:181405 SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY HP:0003634 Generalized amyoplasia TAS TAS MIM:181405 probinson 11.04.2012 +MIM:181405 SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY HP:0008957 Progressive scapuloperoneal atrophy TAS TAS MIM:181405 probinson 11.04.2012 +MIM:181405 SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY HP:0009063 Progressive distal muscle weakness TAS TAS MIM:181405 probinson 11.04.2012 +MIM:181405 SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY HP:0008955 Progressive distal muscular atrophy TAS TAS MIM:181405 probinson 11.04.2012 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-187300.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-187300.tab 2012-04-25 14:37:38 UTC (rev 4267) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-187300.tab 2012-04-25 21:30:35 UTC (rev 4268) @@ -1,38 +1,39 @@ -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:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:187300 HPO 17.02.2009 -OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0000214 Lip telangiectasia IEA IEA OMIM:187300 HPO 17.02.2009 -OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0000227 Tongue telangiectasia IEA IEA OMIM:187300 HPO 17.02.2009 -OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0000434 Nasal mucosa telangiectasia IEA IEA OMIM:187300 HPO 17.02.2009 -OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0000471 Gastrointestinal angiodysplasia IEA IEA OMIM:187300 HPO 17.02.2009 -OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0000524 Conjunctival telangiectasia IEA IEA OMIM:187300 HPO 17.02.2009 -OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0000961 Cyanosis IEA IEA OMIM:187300 HPO 17.02.2009 -OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0001217 Clubbing IEA IEA OMIM:187300 HPO 17.02.2009 -OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0001232 Nail bed telangiectasia IEA IEA OMIM:187300 HPO 17.02.2009 -OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0001250 Seizures IEA IEA OMIM:187300 HPO 17.02.2009 -OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0001394 Cirrhosis IEA IEA OMIM:187300 HPO 17.02.2009 -OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0001694 Right-to-left shunt IEA IEA OMIM:187300 HPO 17.02.2009 -OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0001722 High-output congestive heart failure IEA IEA OMIM:187300 HPO 17.02.2009 -OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0001901 Polycythemia IEA IEA OMIM:187300 HPO 17.02.2009 -OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0001903 Anemia IEA IEA OMIM:187300 HPO 17.02.2009 -OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0002076 Migraine IEA IEA OMIM:187300 HPO 17.02.2009 -OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0002094 Dyspnea IEA IEA OMIM:187300 HPO 17.02.2009 -OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0002138 Subarachnoid hemorrhage IEA IEA OMIM:187300 HPO 17.02.2009 -OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0002140 Ischemic stroke IEA IEA OMIM:187300 HPO 17.02.2009 -OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0002248 Hematemesis IEA IEA OMIM:187300 HPO 17.02.2009 -OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0002249 Melena IEA IEA OMIM:187300 HPO 17.02.2009 -OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0002326 Transient ischemic attack IEA IEA OMIM:187300 HPO 17.02.2009 -OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0002390 Spinal arteriovenous malformation IEA IEA OMIM:187300 HPO 17.02.2009 -OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0002408 Cerebral arteriovenous malformation IEA IEA OMIM:187300 HPO 17.02.2009 -OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0002573 Hematochezia IEA IEA OMIM:187300 HPO 17.02.2009 -OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0002604 Gastrointestinal telangiectasia IEA IEA OMIM:187300 HPO 17.02.2009 -OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0002608 Celiac disease ITM ITM OMIM:187300 HPO 17.02.2009 -OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0002626 Venous varicosities of celiac and mesenteric vessels IEA IEA OMIM:187300 HPO 17.02.2009 -OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0002629 Gastrointestinal arteriovenous malformation IEA IEA OMIM:187300 HPO 17.02.2009 -OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0002636 Arterial aneurysm of celiac and mesenteric vessels IEA IEA OMIM:187300 HPO 17.02.2009 -OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0002642 Arteriovenous fistulas of celiac and mesenteric vessels IEA IEA OMIM:187300 HPO 17.02.2009 -OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0002707 Palate telangiectasia IEA IEA OMIM:187300 HPO 17.02.2009 -OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0004406 Spontaneous, recurrent epistaxis HP:0003621 Juvenile onset IEA IEA OMIM:187300 HPO 17.02.2009 -OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0004947 Arteriovenous fistulas ITM ITM OMIM:187300 HPO 17.02.2009 -OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0006107 Fingerpad telangiectases IEA IEA OMIM:187300 HPO 17.02.2009 -OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0006548 Pulmonary arteriovenous malformation IEA IEA OMIM:187300 HPO 17.02.2009 -OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0006574 Hepatic arteriovenous malformation IEA IEA OMIM:187300 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:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0000214 Lip telangiectasia IEA IEA OMIM:187300 HPO 17.02.2009 +OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0000227 Tongue telangiectasia IEA IEA OMIM:187300 HPO 17.02.2009 +OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0000434 Nasal mucosa telangiectasia IEA IEA OMIM:187300 HPO 17.02.2009 +OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0000471 Gastrointestinal angiodysplasia IEA IEA OMIM:187300 HPO 17.02.2009 +OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0000524 Conjunctival telangiectasia TAS TAS OMIM:187300 HPO 17.02.2009 +OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0000961 Cyanosis IEA IEA OMIM:187300 HPO 17.02.2009 +OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0001217 Clubbing IEA IEA OMIM:187300 HPO 17.02.2009 +OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0001232 Nail bed telangiectasia IEA IEA OMIM:187300 HPO 17.02.2009 +OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0001250 Seizures IEA IEA OMIM:187300 HPO 17.02.2009 +OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0001394 Cirrhosis IEA IEA OMIM:187300 HPO 17.02.2009 +OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0001694 Right-to-left shunt IEA IEA OMIM:187300 HPO 17.02.2009 +OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0001722 High-output congestive heart failure IEA IEA OMIM:187300 HPO 17.02.2009 +OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0001901 Polycythemia IEA IEA OMIM:187300 HPO 17.02.2009 +OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0001903 Anemia IEA IEA OMIM:187300 HPO 17.02.2009 +OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0002076 Migraine IEA IEA OMIM:187300 HPO 17.02.2009 +OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0002094 Dyspnea IEA IEA OMIM:187300 HPO 17.02.2009 +OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0002138 Subarachnoid hemorrhage IEA IEA OMIM:187300 HPO 17.02.2009 +OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0002140 Ischemic stroke IEA IEA OMIM:187300 HPO 17.02.2009 +OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0002248 Hematemesis IEA IEA OMIM:187300 HPO 17.02.2009 +OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0002249 Melena IEA IEA OMIM:187300 HPO 17.02.2009 +OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0002326 Transient ischemic attack IEA IEA OMIM:187300 HPO 17.02.2009 +OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0002390 Spinal arteriovenous malformation IEA IEA OMIM:187300 HPO 17.02.2009 +OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0002408 Cerebral arteriovenous malformation IEA IEA OMIM:187300 HPO 17.02.2009 +OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0002573 Hematochezia IEA IEA OMIM:187300 HPO 17.02.2009 +OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0002604 Gastrointestinal telangiectasia IEA IEA OMIM:187300 HPO 17.02.2009 +OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0002608 Celiac disease ITM ITM OMIM:187300 HPO 17.02.2009 +OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0002626 Venous varicosities of celiac and mesenteric vessels IEA IEA OMIM:187300 HPO 17.02.2009 +OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0002629 Gastrointestinal arteriovenous malformation IEA IEA OMIM:187300 HPO 17.02.2009 +OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0002636 Arterial aneurysm of celiac and mesenteric vessels IEA IEA OMIM:187300 HPO 17.02.2009 +OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0002642 Arteriovenous fistulas of celiac and mesenteric vessels IEA IEA OMIM:187300 HPO 17.02.2009 +OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0002707 Palate telangiectasia IEA IEA OMIM:187300 HPO 17.02.2009 +OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0004406 Spontaneous, recurrent epistaxis HP:0003621 Juvenile onset IEA IEA OMIM:187300 HPO 17.02.2009 +OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0004947 Arteriovenous fistulas ITM ITM OMIM:187300 HPO 17.02.2009 +OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0006107 Fingerpad telangiectases IEA IEA OMIM:187300 HPO 17.02.2009 +OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0006548 Pulmonary arteriovenous malformation IEA IEA OMIM:187300 HPO 17.02.2009 +OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0006574 Hepatic arteriovenous malformation IEA IEA OMIM:187300 HPO 17.02.2009 +OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:187300 probinson 25.04.2012 +OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER HP:0001342 Cerebral hemorrhage TAS TAS OMIM:187300 probinson 25.04.2012 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-205250.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-205250.tab 2012-04-25 14:37:38 UTC (rev 4267) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-205250.tab 2012-04-25 21:30:35 UTC (rev 4268) @@ -1,9 +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 -MIM:205250 AMYOTROPHIC LATERAL SCLEROSIS WITH POLYGLUCOSAN BODIES HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009 -MIM:205250 AMYOTROPHIC LATERAL SCLEROSIS WITH POLYGLUCOSAN BODIES HP:0001939 Abnormality of metabolism/homeostasis IEA IEA 17.02.2009 -MIM:205250 AMYOTROPHIC LATERAL SCLEROSIS WITH POLYGLUCOSAN BODIES HP:0002483 Bulbar signs IEA IEA 17.02.2009 -MIM:205250 AMYOTROPHIC LATERAL SCLEROSIS WITH POLYGLUCOSAN BODIES HP:0003324 Generalized muscle weakness ITM ITM 17.02.2009 -MIM:205250 AMYOTROPHIC LATERAL SCLEROSIS WITH POLYGLUCOSAN BODIES HP:0007354 Amyotrophic lateral sclerosis ITM ITM 17.02.2009 -MIM:205250 AMYOTROPHIC LATERAL SCLEROSIS WITH POLYGLUCOSAN BODIES HP:0008957 Progressive scapuloperoneal atrophy ITM ITM 17.02.2009 -MIM:205250 AMYOTROPHIC LATERAL SCLEROSIS WITH POLYGLUCOSAN BODIES HP:0008959 Distal weakness in arms then legs IEA IEA 17.02.2009 -MIM:205250 AMYOTROPHIC LATERAL SCLEROSIS WITH POLYGLUCOSAN BODIES HP:0002460 Distal muscle weakness IEA IEA 11.04.2012 +MIM:205250 AMYOTROPHIC LATERAL SCLEROSIS WITH POLYGLUCOSAN BODIES HP:0003202 Amyotrophy TAS TAS MIM:205250 probinson 25.04.2012 +MIM:205250 AMYOTROPHIC LATERAL SCLEROSIS WITH POLYGLUCOSAN BODIES HP:0007354 Amyotrophic lateral sclerosis TAS TAS MIM:205250 probinson 25.04.2012 +MIM:205250 AMYOTROPHIC LATERAL SCLEROSIS WITH POLYGLUCOSAN BODIES HP:0002460 Distal muscle weakness TAS TAS MIM:205250 probinson 25.04.2012 +MIM:205250 AMYOTROPHIC LATERAL SCLEROSIS WITH POLYGLUCOSAN BODIES HP:0000007 Autosomal recessive inheritance TAS TAS MIM:205250 probinson 25.04.2012 +MIM:205250 AMYOTROPHIC LATERAL SCLEROSIS WITH POLYGLUCOSAN BODIES HP:0002483 Bulbar signs TAS TAS MIM:205250 probinson 25.04.2012 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-270550.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-270550.tab 2012-04-25 14:37:38 UTC (rev 4267) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-270550.tab 2012-04-25 21:30:35 UTC (rev 4268) @@ -1,33 +1,33 @@ -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:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:270550 HPO 17.02.2009 -OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0000012 Urinary urgency IEA IEA OMIM:270550 HPO 17.02.2009 -OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0000639 Nystagmus IEA IEA OMIM:270550 HPO 17.02.2009 -OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0000762 Decreased nerve conduction velocity ITM ITM OMIM:270550 HPO 17.02.2009 -OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0001249 Intellectual disability IEA IEA OMIM:270550 HPO 17.02.2009 -OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0001257 Spasticity IEA IEA OMIM:270550 HPO 17.02.2009 -OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0001260 Dysarthria IEA IEA OMIM:270550 HPO 17.02.2009 -OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0001310 Dysmetria IEA IEA OMIM:270550 HPO 17.02.2009 -OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0001347 Hyperreflexia IEA IEA OMIM:270550 HPO 17.02.2009 -OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0001761 Pes cavus IEA IEA OMIM:270550 HPO 17.02.2009 -OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0001765 Hammertoe IEA IEA OMIM:270550 HPO 17.02.2009 -OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0002166 Decreased vibratory sense in the lower limbs IEA IEA OMIM:270550 HPO 17.02.2009 -OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0002168 Scanning speech IEA IEA OMIM:270550 HPO 17.02.2009 -OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0002460 Distal muscle weakness IEA IEA OMIM:270550 HPO 17.02.2009 -OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0002493 Corticospinal tract dysfunction IEA IEA OMIM:270550 HPO 17.02.2009 -OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0002497 Spastic ataxia ITM ITM OMIM:270550 HPO 17.02.2009 -OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0002527 Falls IEA IEA OMIM:270550 SKOEHLER 20.06.2010 -OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0002936 Distal sensory impairment ITM ITM OMIM:270550 HPO 17.02.2009 -OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0003387 Decreased number of large peripheral myelinated nerve fibers IEA IEA OMIM:270550 HPO 17.02.2009 -OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0003438 Absent Achilles reflex IEA IEA OMIM:270550 HPO 17.02.2009 -OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0003448 Decreased sensory nerve conduction velocity IEA IEA OMIM:270550 HPO 17.02.2009 -OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0003487 Babinski sign IEA IEA OMIM:270550 HPO 17.02.2009 -OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0003593 Infantile onset IEA IEA OMIM:270550 HPO 17.02.2009 -OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0006150 Swan neck-like deformities of the fingers IEA IEA OMIM:270550 HPO 17.02.2009 -OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0006786 Amyotrophy, distal, severe IEA IEA OMIM:270550 HPO 17.02.2009 -OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0006855 Cerebellar vermis atrophy IEA IEA OMIM:270550 HPO 17.02.2009 -OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0007001 Loss of purkinje cells in the cerebellar vermis IEA IEA OMIM:270550 HPO 17.02.2009 -OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0007221 Truncal ataxia, progressive IEA IEA OMIM:270550 HPO 17.02.2009 -OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0007240 Progressive gait ataxia IEA IEA OMIM:270550 HPO 17.02.2009 -OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0007654 Retinal striation IEA IEA OMIM:270550 HPO 17.02.2009 -OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0007772 Impaired smooth pursuit IEA IEA OMIM:270550 SKOEHLER 18.06.2010 -OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0007922 Hypermyelinated retinal fibers IEA IEA OMIM:270550 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:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:270550 HPO 17.02.2009 +OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0000012 Urinary urgency IEA IEA OMIM:270550 HPO 17.02.2009 +OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0000639 Nystagmus IEA IEA OMIM:270550 HPO 17.02.2009 +OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0001249 Intellectual disability IEA IEA OMIM:270550 HPO 17.02.2009 +OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0001257 Spasticity IEA IEA OMIM:270550 HPO 17.02.2009 +OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0001260 Dysarthria IEA IEA OMIM:270550 HPO 17.02.2009 +OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0001310 Dysmetria IEA IEA OMIM:270550 HPO 17.02.2009 +OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0001347 Hyperreflexia IEA IEA OMIM:270550 HPO 17.02.2009 +OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0001761 Pes cavus IEA IEA OMIM:270550 HPO 17.02.2009 +OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0001765 Hammertoe IEA IEA OMIM:270550 HPO 17.02.2009 +OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0002166 Decreased vibratory sense in the lower limbs IEA IEA OMIM:270550 HPO 17.02.2009 +OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0002168 Scanning speech IEA IEA OMIM:270550 HPO 17.02.2009 +OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0002460 Distal muscle weakness IEA IEA OMIM:270550 HPO 17.02.2009 +OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0002493 Corticospinal tract dysfunction IEA IEA OMIM:270550 HPO 17.02.2009 +OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0002527 Falls IEA IEA OMIM:270550 SKOEHLER 20.06.2010 +OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0003387 Decreased number of large peripheral myelinated nerve fibers IEA IEA OMIM:270550 HPO 17.02.2009 +OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0003438 Absent Achilles reflex IEA IEA OMIM:270550 HPO 17.02.2009 +OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0003448 Decreased sensory nerve conduction velocity IEA IEA OMIM:270550 HPO 17.02.2009 +OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0003487 Babinski sign IEA IEA OMIM:270550 HPO 17.02.2009 +OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0003593 Infantile onset IEA IEA OMIM:270550 HPO 17.02.2009 +OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0006150 Swan neck-like deformities of the fingers IEA IEA OMIM:270550 HPO 17.02.2009 +OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0006855 Cerebellar vermis atrophy IEA IEA OMIM:270550 HPO 17.02.2009 +OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0007001 Loss of purkinje cells in the cerebellar vermis IEA IEA OMIM:270550 HPO 17.02.2009 +OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0007221 Truncal ataxia, progressive IEA IEA OMIM:270550 HPO 17.02.2009 +OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0007240 Progressive gait ataxia IEA IEA OMIM:270550 HPO 17.02.2009 +OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0007654 Retinal striation IEA IEA OMIM:270550 HPO 17.02.2009 +OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0007772 Impaired smooth pursuit IEA IEA OMIM:270550 SKOEHLER 18.06.2010 +OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0007922 Hypermyelinated retinal fibers IEA IEA OMIM:270550 HPO 17.02.2009 +OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0002497 Spastic ataxia TAS TAS OMIM:270550 probinson 25.04.2012 +OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0002936 Distal sensory impairment TAS TAS OMIM:270550 probinson 25.04.2012 +OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0000762 Decreased nerve conduction velocity TAS TAS OMIM:270550 probinson 25.04.2012 +OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE HP:0003693 Distal amyotrophy TAS TAS Severe OMIM:270550 probinson 25.04.2012 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606183.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606183.tab 2012-04-25 14:37:38 UTC (rev 4267) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606183.tab 2012-04-25 21:30:35 UTC (rev 4268) @@ -1,16 +1,16 @@ -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:606183 LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:606183 HPO 17.02.2009 -OMIM:606183 LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY HP:0000639 Nystagmus IEA IEA OMIM:606183 HPO 17.02.2009 -OMIM:606183 LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY HP:0001272 Cerebellar atrophy IEA IEA OMIM:606183 HPO 17.02.2009 -OMIM:606183 LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY HP:0001310 Dysmetria IEA IEA OMIM:606183 HPO 17.02.2009 -OMIM:606183 LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY HP:0001609 Hoarse voice IEA IEA OMIM:606183 HPO 17.02.2009 -OMIM:606183 LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY HP:0001618 Dysphonia IEA IEA OMIM:606183 HPO 17.02.2009 -OMIM:606183 LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY HP:0002066 Gait ataxia IEA IEA OMIM:606183 HPO 17.02.2009 -OMIM:606183 LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY HP:0002073 Progressive cerebellar ataxia IEA IEA OMIM:606183 HPO 17.02.2009 -OMIM:606183 LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY HP:0002094 Dyspnea IEA IEA OMIM:606183 SKOEHLER 20.06.2010 -OMIM:606183 LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY HP:0003445 EMG: neuropathic changes IEA IEA OMIM:606183 HPO 17.02.2009 -OMIM:606183 LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY HP:0003581 Adult onset IEA IEA OMIM:606183 HPO 17.02.2009 -OMIM:606183 LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY HP:0006511 Laryngeal stridor IEA IEA OMIM:606183 HPO 17.02.2009 -OMIM:606183 LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY HP:0007289 Limb fasciculations IEA IEA OMIM:606183 HPO 17.02.2009 -OMIM:606183 LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY HP:0008003 Jerky ocular pursuit movements IEA IEA OMIM:606183 HPO 17.02.2009 -OMIM:606183 LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY HP:0008937 Mild distal muscle atrophy IEA IEA OMIM:606183 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:606183 LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:606183 HPO 17.02.2009 +OMIM:606183 LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY HP:0000639 Nystagmus IEA IEA OMIM:606183 HPO 17.02.2009 +OMIM:606183 LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY HP:0001272 Cerebellar atrophy IEA IEA OMIM:606183 HPO 17.02.2009 +OMIM:606183 LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY HP:0001310 Dysmetria IEA IEA OMIM:606183 HPO 17.02.2009 +OMIM:606183 LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY HP:0001609 Hoarse voice IEA IEA OMIM:606183 HPO 17.02.2009 +OMIM:606183 LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY HP:0001618 Dysphonia IEA IEA OMIM:606183 HPO 17.02.2009 +OMIM:606183 LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY HP:0002066 Gait ataxia IEA IEA OMIM:606183 HPO 17.02.2009 +OMIM:606183 LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY HP:0002073 Progressive cerebellar ataxia IEA IEA OMIM:606183 HPO 17.02.2009 +OMIM:606183 LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY HP:0002094 Dyspnea IEA IEA OMIM:606183 SKOEHLER 20.06.2010 +OMIM:606183 LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY HP:0003445 EMG: neuropathic changes IEA IEA OMIM:606183 HPO 17.02.2009 +OMIM:606183 LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY HP:0003581 Adult onset IEA IEA OMIM:606183 HPO 17.02.2009 +OMIM:606183 LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY HP:0006511 Laryngeal stridor IEA IEA OMIM:606183 HPO 17.02.2009 +OMIM:606183 LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY HP:0007289 Limb fasciculations IEA IEA OMIM:606183 HPO 17.02.2009 +OMIM:606183 LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY HP:0008003 Jerky ocular pursuit movements IEA IEA OMIM:606183 HPO 17.02.2009 +OMIM:606183 LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY HP:0003693 Distal amyotrophy IEA IEA Mild OMIM:606183 HPO 25.04.2012 This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site. |