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From: <pr...@us...> - 2011-12-31 11:41:49
|
Revision: 4117
http://obo.svn.sourceforge.net/obo/?rev=4117&view=rev
Author: probins
Date: 2011-12-31 11:41:42 +0000 (Sat, 31 Dec 2011)
Log Message:
-----------
Adding new annoptations to annotated folder
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/MIM-606966.tab
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-136800.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-211410.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-211420.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-278800.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-606966.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-606966.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-606966.tab 2011-12-28 15:50:57 UTC (rev 4116)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-606966.tab 2011-12-31 11:41:42 UTC (rev 4117)
@@ -7,4 +7,5 @@
MIM:606966 NEPHRONOPHTHISIS 4 MIM:607215 NPHP4 HP:0001903 IEA 17.02.2009
MIM:606966 NEPHRONOPHTHISIS 4 MIM:607215 NPHP4 HP:0001959 GO:0042756 PATO:0000912 IEA 17.02.2009
MIM:606966 NEPHRONOPHTHISIS 4 MIM:607215 NPHP4 HP:0003774 IEA 17.02.2009
-MIM:606966 NEPHRONOPHTHISIS 4 MIM:607215 NPHP4 HP:0005578 IEA 17.02.2009
+MIM:606966 NEPHRONOPHTHISIS 4 MIM:607215 NPHP4 HP:0000108 IEA 31.12.2011
+MIM:606966 NEPHRONOPHTHISIS 4 MIM:607215 NPHP4 HP:0000092 IEA 31.12.2011
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-136800.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-136800.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-136800.tab 2011-12-31 11:41:42 UTC (rev 4117)
@@ -0,0 +1,5 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add'l Entity Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Sex Negation ID Negation Name Description Orthologs Pub Date Created
+MIM:136800 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1 MIM:120252 COLLAGEN, TYPE VIII, ALPHA-2 COL8A2 HP:0000006 Autosomal dominant inheritance IEA Feb 17, 2009
+MIM:136800 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1 MIM:120252 COLLAGEN, TYPE VIII, ALPHA-2 COL8A2 HP:0001131 Corneal dystrophy FMA:58238 PATO:0001780 dystrophic ITM Feb 17, 2009
+MIM:136800 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1 MIM:120252 COLLAGEN, TYPE VIII, ALPHA-2 COL8A2 HP:0003593 Early onset ITM Feb 17, 2009
+MIM:136800 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1 MIM:120252 COLLAGEN, TYPE VIII, ALPHA-2 COL8A2 HP:0007705 Corneal degeneration TAS OMIM:136800 Feb 10, 2011
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-211410.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-211410.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-211410.tab 2011-12-31 11:41:42 UTC (rev 4117)
@@ -0,0 +1,3 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add'l Entity Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Sex Negation ID Negation Name Description Orthologs Pub Date Created
+MIM:211410 BREAST CANCER, DUCTAL, 1 HP:0000007 Autosomal recessive inheritance IEA Feb 17, 2009
+MIM:211410 BREAST CANCER, DUCTAL, 1 HP:0006625 Breast cancer, frequently bilateral and multifocal IEA Feb 17, 2009
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-211420.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-211420.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-211420.tab 2011-12-31 11:41:42 UTC (rev 4117)
@@ -0,0 +1,3 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add'l Entity Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Sex Negation ID Negation Name Description Orthologs Pub Date Created
+MIM:211420 BREAST CANCER, DUCTAL, 2 HP:0000007 Autosomal recessive inheritance IEA Feb 17, 2009
+MIM:211420 BREAST CANCER, DUCTAL, 2 HP:0006625 Breast cancer, frequently bilateral and multifocal IEA Feb 17, 2009
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-278800.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-278800.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-278800.tab 2011-12-31 11:41:42 UTC (rev 4117)
@@ -0,0 +1,27 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0000007 IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0000252 FMA:46565 PATO:0000587 IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0000374 FMA:65132 HP:0000404 IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0000491 IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0000509 IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0000613 IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0000621 IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0000656 FMA:54437 PATO:0001597 IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0000992 FMA:54448 PATO:0000927 IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0001009 IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0001029 IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0001251 GO:0050881 PATO:0000770 IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0001257 IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0001265 IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0001266 IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0001268 IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0001284 IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0001286 IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0001480 ITM 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0001516 IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0003079 IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0003593 ITM 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0004334 FMA:7163 PATO:0001623 IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0002542 IEA 28.12.2011
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0001272 IEA 28.12.2011
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0008639 FMA:18250 PATO:0000645 IEA 17.02.2009
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-606966.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-606966.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-606966.tab 2011-12-31 11:41:42 UTC (rev 4117)
@@ -0,0 +1,11 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
+MIM:606966 NEPHRONOPHTHISIS 4 MIM:607215 NPHP4 HP:0000007 IEA 17.02.2009
+MIM:606966 NEPHRONOPHTHISIS 4 MIM:607215 NPHP4 HP:0000090 IEA 17.02.2009
+MIM:606966 NEPHRONOPHTHISIS 4 MIM:607215 NPHP4 HP:0000103 GO:0060073 PATO:0000912 IEA 17.02.2009
+MIM:606966 NEPHRONOPHTHISIS 4 MIM:607215 NPHP4 HP:0000129 IEA 17.02.2009
+MIM:606966 NEPHRONOPHTHISIS 4 MIM:607215 NPHP4 HP:0001510 GO:0040007 PATO:0000911 IEA 17.02.2009
+MIM:606966 NEPHRONOPHTHISIS 4 MIM:607215 NPHP4 HP:0001903 IEA 17.02.2009
+MIM:606966 NEPHRONOPHTHISIS 4 MIM:607215 NPHP4 HP:0001959 GO:0042756 PATO:0000912 IEA 17.02.2009
+MIM:606966 NEPHRONOPHTHISIS 4 MIM:607215 NPHP4 HP:0003774 IEA 17.02.2009
+MIM:606966 NEPHRONOPHTHISIS 4 MIM:607215 NPHP4 HP:0000108 IEA 31.12.2011
+MIM:606966 NEPHRONOPHTHISIS 4 MIM:607215 NPHP4 HP:0000092 IEA 31.12.2011
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <pr...@us...> - 2012-01-01 12:47:25
|
Revision: 4118
http://obo.svn.sourceforge.net/obo/?rev=4118&view=rev
Author: probins
Date: 2012-01-01 12:47:18 +0000 (Sun, 01 Jan 2012)
Log Message:
-----------
Modified a term
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/MIM-167320.tab
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-167320.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-167320.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-167320.tab 2011-12-31 11:41:42 UTC (rev 4117)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-167320.tab 2012-01-01 12:47:18 UTC (rev 4118)
@@ -15,7 +15,8 @@
MIM:167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORALDEMENTIA MIM:601023 VCP HP:0003693 _:distal_muscle PATO:0001623 IEA 17.02.2009
MIM:167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORALDEMENTIA MIM:601023 VCP HP:0003701 _:proximal_muscle PATO:0001779 IEA 17.02.2009
MIM:167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORALDEMENTIA MIM:601023 VCP HP:0003805 IEA 17.02.2009
-MIM:167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORALDEMENTIA MIM:601023 VCP HP:0007112 IEA 17.02.2009
+MIM:167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORALDEMENTIA MIM:601023 VCP HP:0007112 IEA 01.01.2012
+MIM:167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORALDEMENTIA MIM:601023 VCP HP:0006913 IEA 01.01.2012
MIM:167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORALDEMENTIA MIM:601023 VCP HP:0008266 IEA 17.02.2009
MIM:167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORALDEMENTIA MIM:601023 VCP HP:0008946 PATO:0000001 IEA 17.02.2009
MIM:167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORALDEMENTIA MIM:601023 VCP HP:0009009 PATO:0000001 IEA 17.02.2009
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-167320.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-167320.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-167320.tab 2012-01-01 12:47:18 UTC (rev 4118)
@@ -0,0 +1,22 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
+MIM:167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORALDEMENTIA MIM:601023 VCP HP:0000006 IEA 17.02.2009
+MIM:167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORALDEMENTIA MIM:601023 VCP HP:0001332 FMA:30316 PATO:0001814 IEA 17.02.2009
+MIM:167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORALDEMENTIA MIM:601023 VCP HP:0002145 IEA 17.02.2009
+MIM:167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORALDEMENTIA MIM:601023 VCP HP:0002147 IEA 17.02.2009
+MIM:167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORALDEMENTIA MIM:601023 VCP HP:0002355 ITM 17.02.2009
+MIM:167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORALDEMENTIA MIM:601023 VCP HP:0002534 PATO:0001779 ITM 17.02.2009
+MIM:167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORALDEMENTIA MIM:601023 VCP HP:0002644 PATO:0000001 IEA PATO:0000460 17.02.2009
+MIM:167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORALDEMENTIA MIM:601023 VCP HP:0002938 FMA:75791 PATO:0002017 IEA 17.02.2009
+MIM:167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORALDEMENTIA MIM:601023 VCP HP:0003198 ITM 17.02.2009
+MIM:167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORALDEMENTIA MIM:601023 VCP HP:0003418 IEA 17.02.2009
+MIM:167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORALDEMENTIA MIM:601023 VCP HP:0003551 IEA 17.02.2009
+MIM:167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORALDEMENTIA MIM:601023 VCP HP:0003593 ITM 17.02.2009
+MIM:167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORALDEMENTIA MIM:601023 VCP HP:0003691 IEA 17.02.2009
+MIM:167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORALDEMENTIA MIM:601023 VCP HP:0003693 _:distal_muscle PATO:0001623 IEA 17.02.2009
+MIM:167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORALDEMENTIA MIM:601023 VCP HP:0003701 _:proximal_muscle PATO:0001779 IEA 17.02.2009
+MIM:167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORALDEMENTIA MIM:601023 VCP HP:0003805 IEA 17.02.2009
+MIM:167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORALDEMENTIA MIM:601023 VCP HP:0007112 IEA 01.01.2012
+MIM:167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORALDEMENTIA MIM:601023 VCP HP:0006913 IEA 01.01.2012
+MIM:167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORALDEMENTIA MIM:601023 VCP HP:0008266 IEA 17.02.2009
+MIM:167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORALDEMENTIA MIM:601023 VCP HP:0008946 PATO:0000001 IEA 17.02.2009
+MIM:167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORALDEMENTIA MIM:601023 VCP HP:0009009 PATO:0000001 IEA 17.02.2009
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <pr...@us...> - 2012-02-20 21:54:35
|
Revision: 4170
http://obo.svn.sourceforge.net/obo/?rev=4170&view=rev
Author: probins
Date: 2012-02-20 21:54:28 +0000 (Mon, 20 Feb 2012)
Log Message:
-----------
hair
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/MIM-234030.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-257960.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-259050.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-311000.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-313700.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-601375.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-608154.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-234030.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-234030.tab 2012-02-17 21:12:20 UTC (rev 4169)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-234030.tab 2012-02-20 21:54:28 UTC (rev 4170)
@@ -1,9 +1,10 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0000007 IEA 17.02.2009
-MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0000992 FMA:54448 PATO:0000927 IEA 17.02.2009
-MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0002208 FMA:53667 PATO:0000700 ITM 17.02.2009
-MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0002295 FMA:53667 PATO:0001362 ITM 17.02.2009
-MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0003680 ITM 17.02.2009
-MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0004522 IEA 17.02.2009
-MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0007154 IEA 17.02.2009
-MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0008070 FMA:53667 PATO:0001609 ITM 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
+MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0000992 Photosensitivity IEA IEA 17.02.2009
+MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0002208 Coarse hair ITM ITM 17.02.2009
+MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0010719 Abnormality of hair texture PCS PCS MIM:234030 17.02.2009
+MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0003680 Nonprogressive disorder ITM ITM 17.02.2009
+MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0000653 Sparse eyelashes PCS PCS MIM:234030 17.02.2009
+MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0007154 Nonprogressive intellectual disability IEA IEA 17.02.2009
+MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0008070 Sparse hair PCS PCS MIM:234030 17.02.2009
+MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0000535 Sparse eyebrow PCS PCS MIM:234030 20.02.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-257960.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-257960.tab 2012-02-17 21:12:20 UTC (rev 4169)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-257960.tab 2012-02-20 21:54:28 UTC (rev 4170)
@@ -1,15 +1,17 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:257960 OCULOTRICHODYSPLASIA HP:0000007 IEA 17.02.2009
-MIM:257960 OCULOTRICHODYSPLASIA HP:0000510 IEA 17.02.2009
-MIM:257960 OCULOTRICHODYSPLASIA HP:0000670 IEA 17.02.2009
-MIM:257960 OCULOTRICHODYSPLASIA HP:0000681 IEA 17.02.2009
-MIM:257960 OCULOTRICHODYSPLASIA HP:0000958 FMA:7163 PATO:0001824 IEA 17.02.2009
-MIM:257960 OCULOTRICHODYSPLASIA HP:0001808 FMA:54326 PATO:0001362 IEA 17.02.2009
-MIM:257960 OCULOTRICHODYSPLASIA HP:0001939 GO:0008152 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:257960 OCULOTRICHODYSPLASIA HP:0002164 FMA:54326 PATO:0001780 IEA 17.02.2009
-MIM:257960 OCULOTRICHODYSPLASIA HP:0002552 IEA 17.02.2009
-MIM:257960 OCULOTRICHODYSPLASIA HP:0004514 IEA 17.02.2009
-MIM:257960 OCULOTRICHODYSPLASIA HP:0004528 IEA 17.02.2009
-MIM:257960 OCULOTRICHODYSPLASIA HP:0006313 IEA 17.02.2009
-MIM:257960 OCULOTRICHODYSPLASIA HP:0006347 IEA 17.02.2009
-MIM:257960 OCULOTRICHODYSPLASIA HP:0007853 IEA 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
+MIM:257960 OCULOTRICHODYSPLASIA HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:257960 OCULOTRICHODYSPLASIA HP:0000510 Retinitis pigmentosa IEA IEA 17.02.2009
+MIM:257960 OCULOTRICHODYSPLASIA HP:0000670 Carious teeth IEA IEA 17.02.2009
+MIM:257960 OCULOTRICHODYSPLASIA HP:0006349 Agenesis of permanent teeth PCS PCS MIM:257960 17.02.2009
+MIM:257960 OCULOTRICHODYSPLASIA HP:0000958 Dry skin IEA IEA 17.02.2009
+MIM:257960 OCULOTRICHODYSPLASIA HP:0001808 Fragile nails IEA IEA 17.02.2009
+MIM:257960 OCULOTRICHODYSPLASIA HP:0001939 Abnormality of metabolism/homeostasis IEA IEA 17.02.2009
+MIM:257960 OCULOTRICHODYSPLASIA HP:0002164 Nail dysplasia IEA IEA 17.02.2009
+MIM:257960 OCULOTRICHODYSPLASIA HP:0002552 Trichodysplasia IEA IEA 17.02.2009
+MIM:257960 OCULOTRICHODYSPLASIA HP:0002209 Sparse scalp hair PCS PCS MIM:257960 17.02.2009
+MIM:257960 OCULOTRICHODYSPLASIA HP:0004528 Generalized hypotrichosis IEA IEA 17.02.2009
+MIM:257960 OCULOTRICHODYSPLASIA HP:0006313 Widely spaced primary teeth IEA IEA 17.02.2009
+MIM:257960 OCULOTRICHODYSPLASIA HP:0006347 Microdontia of primary teeth IEA IEA 17.02.2009
+MIM:257960 OCULOTRICHODYSPLASIA HP:0007853 Scant eyelashes IEA IEA 17.02.2009
+MIM:257960 OCULOTRICHODYSPLASIA HP:0002215 Sparse axillary hair PCS PCS MIM:257960 20.02.2012
+MIM:257960 OCULOTRICHODYSPLASIA HP:0002225 Sparse pubic hair PCS PCS MIM:257960 20.02.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-259050.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-259050.tab 2012-02-17 21:12:20 UTC (rev 4169)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-259050.tab 2012-02-20 21:54:28 UTC (rev 4170)
@@ -1,36 +1,37 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, ANDBONY CHANGES HP:0000256 FMA:46565 PATO:0000586 IEA 17.02.2009
-MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, ANDBONY CHANGES HP:0000272 FMA:52747 PATO:0000645 IEA 17.02.2009
-MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, ANDBONY CHANGES HP:0000327 FMA:9711 PATO:0000645 IEA 17.02.2009
-MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, ANDBONY CHANGES HP:0000365 IEA 17.02.2009
-MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, ANDBONY CHANGES HP:0000400 FMA:52781 PATO:0000586 IEA 17.02.2009
-MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, ANDBONY CHANGES HP:0000490 IEA 17.02.2009
-MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, ANDBONY CHANGES HP:0000494 IEA 17.02.2009
-MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, ANDBONY CHANGES HP:0000664 IEA 17.02.2009
-MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, ANDBONY CHANGES HP:0000767 IEA 17.02.2009
-MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, ANDBONY CHANGES HP:0000771 IEA 17.02.2009
-MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, ANDBONY CHANGES HP:0000774 FMA:9576 PATO:0000599 IEA 17.02.2009
-MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, ANDBONY CHANGES HP:0000939 _:increased_bone_resorption_and__:decreased_osteogenesis IEA PATO:0001869 17.02.2009
-MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, ANDBONY CHANGES HP:0001115 IEA 17.02.2009
-MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, ANDBONY CHANGES HP:0001267 ITM 17.02.2009
-MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, ANDBONY CHANGES HP:0001372 HP:0001371 IEA 17.02.2009
-MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, ANDBONY CHANGES HP:0001420 IEA 17.02.2009
-MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, ANDBONY CHANGES HP:0001509 FMA:20394 PATO:0000569 IEA 17.02.2009
-MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, ANDBONY CHANGES HP:0001761 IEA 17.02.2009
-MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, ANDBONY CHANGES HP:0001840 IEA 17.02.2009
-MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, ANDBONY CHANGES HP:0002180 IEA 17.02.2009
-MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, ANDBONY CHANGES HP:0002221 PATO:0001557 FMA:70756 ITM 17.02.2009
-MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, ANDBONY CHANGES HP:0002691 ITM 17.02.2009
-MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, ANDBONY CHANGES HP:0002808 PATO:0001468 IEA PATO:0001869 17.02.2009
-MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, ANDBONY CHANGES HP:0002857 IEA 17.02.2009
-MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, ANDBONY CHANGES HP:0002868 IEA 17.02.2009
-MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, ANDBONY CHANGES HP:0002978 FMA:24974 HP:0001371 ITM 17.02.2009
-MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, ANDBONY CHANGES HP:0003273 FMA:24964 HP:0001371 ITM 17.02.2009
-MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, ANDBONY CHANGES HP:0003301 _:vertebral_endplate PATO:0000330 IEA 17.02.2009
-MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, ANDBONY CHANGES HP:0003693 _:distal_muscle PATO:0001623 IEA 17.02.2009
-MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, ANDBONY CHANGES HP:0004549 IEA 17.02.2009
-MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, ANDBONY CHANGES HP:0005103 IEA 17.02.2009
-MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, ANDBONY CHANGES HP:0005121 _:posterior_vertebrae PATO:0001889 IEA 17.02.2009
-MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, ANDBONY CHANGES HP:0008541 IEA 17.02.2009
-MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, ANDBONY CHANGES HP:0009882 FMA:75818 PATO:0000645 IEA 17.02.2009
-MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, ANDBONY CHANGES HP:0010563 ITM 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
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0000256 Macrocephaly IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0000272 Malar hypoplasia IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0000327 Hypoplasia of the maxilla IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0000365 Hearing impairment IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0000400 Macrotia IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0000490 Deeply set eye IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0000494 Downslanted palpebral fissures IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0000664 Synophrys IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0000767 Pectus excavatum IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0000771 Gynecomastia IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0000774 Narrow chest IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0000939 Osteoporosis IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0001115 Posterior polar cataract IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0001249 Intellectual disability PCS PCS MIM:259050 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0001371 Contractures PCS PCS MIM:259050 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0001420 Isolated cases IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0004322 Short stature PCS PCS MIM:259050 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0001761 Pes cavus IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0001840 Metatarsus adductus IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0002180 Neurodegeneration IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0002221 Absent axillary hair ITM ITM 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0002691 Platybasia ITM ITM 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0002808 Kyphosis IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0002857 Genu valgum IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0002868 Narrow iliac wings IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0002978 Knee contractures ITM ITM 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0003273 Hip contractures ITM ITM 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0003301 Irregular vertebral endplates IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0003693 Distal amyotrophy IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0002550 Absent facial hair IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0005103 Cartilaginous ossification of pinnae IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0005121 Posterior scalloping of vertebral bodies IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0008541 Superiorly displaced ears IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0009882 Short distal phalanx of finger IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0009473 Joint contractures involving the joints of the hand ITM ITM 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0002221 Absent axillary hair IEA IEA 20.02.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-311000.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-311000.tab 2012-02-17 21:12:20 UTC (rev 4169)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-311000.tab 2012-02-20 21:54:28 UTC (rev 4170)
@@ -1,11 +1,12 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:311000 OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA HP:0000508 IEA 17.02.2009
-MIM:311000 OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA HP:0000545 IEA 17.02.2009
-MIM:311000 OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA HP:0000546 FMA:58301 PATO:0000639 IEA 17.02.2009
-MIM:311000 OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA HP:0000602 FMA:49033 PATO:0000763 IEA 17.02.2009
-MIM:311000 OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA HP:0001417 IEA 17.02.2009
-MIM:311000 OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA HP:0002414 IEA 17.02.2009
-MIM:311000 OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA HP:0006443 FMA:43623 PATO:0001483 ITM 17.02.2009
-MIM:311000 OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA HP:0007241 IEA 17.02.2009
-MIM:311000 OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA HP:0007686 IEA 17.02.2009
-MIM:311000 OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA HP:0007945 FMA:58298 PATO:0000639 IEA 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
+MIM:311000 OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA HP:0000508 Ptosis IEA IEA 17.02.2009
+MIM:311000 OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA HP:0000545 Myopia IEA IEA 17.02.2009
+MIM:311000 OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA HP:0000546 Retinal degeneration IEA IEA 17.02.2009
+MIM:311000 OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA HP:0000602 Ophthalmoplegia IEA IEA 17.02.2009
+MIM:311000 OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA HP:0001417 X-linked inheritance IEA IEA 17.02.2009
+MIM:311000 OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA HP:0002414 Spina bifida IEA IEA 17.02.2009
+MIM:311000 OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA HP:0006443 Patellar aplasia ITM ITM 17.02.2009
+MIM:311000 OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA HP:0003438 Absent Achilles reflex PCS PCS MIM:311000 17.02.2009
+MIM:311000 OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA HP:0007686 Abnormal pupillary function IEA IEA 17.02.2009
+MIM:311000 OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA HP:0007945 Choroidal degeneration IEA IEA 17.02.2009
+MIM:311000 OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA HP:0006844 Absent patellar reflexes PCS PCS MIM:311000 20.02.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-313700.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-313700.tab 2012-02-17 21:12:20 UTC (rev 4169)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-313700.tab 2012-02-20 21:54:28 UTC (rev 4170)
@@ -1,10 +1,11 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:313700 ANDROGEN RECEPTOR HP:0000023 IEA 17.02.2009
-MIM:313700 ANDROGEN RECEPTOR HP:0000051 IEA 17.02.2009
-MIM:313700 ANDROGEN RECEPTOR HP:0000151 PATO:0001557 FMA:17558 ITM 17.02.2009
-MIM:313700 ANDROGEN RECEPTOR HP:0000765 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:313700 ANDROGEN RECEPTOR HP:0001417 IEA 17.02.2009
-MIM:313700 ANDROGEN RECEPTOR HP:0001608 IEA 17.02.2009
-MIM:313700 ANDROGEN RECEPTOR HP:0001939 GO:0008152 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:313700 ANDROGEN RECEPTOR HP:0004556 IEA 17.02.2009
-MIM:313700 ANDROGEN RECEPTOR HP:0008730 IEA 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
+MIM:313700 ANDROGEN RECEPTOR HP:0000023 Inguinal hernia IEA IEA 17.02.2009
+MIM:313700 ANDROGEN RECEPTOR HP:0000051 Perineal hypospadias IEA IEA 17.02.2009
+MIM:313700 ANDROGEN RECEPTOR HP:0000151 Aplasia of the uterus ITM ITM 17.02.2009
+MIM:313700 ANDROGEN RECEPTOR HP:0000765 Abnormality of the thorax IEA IEA 17.02.2009
+MIM:313700 ANDROGEN RECEPTOR HP:0001417 X-linked inheritance IEA IEA 17.02.2009
+MIM:313700 ANDROGEN RECEPTOR HP:0001608 Abnormality of the voice IEA IEA 17.02.2009
+MIM:313700 ANDROGEN RECEPTOR HP:0001939 Abnormality of metabolism/homeostasis IEA IEA 17.02.2009
+MIM:313700 ANDROGEN RECEPTOR HP:0002555 Absent pubic hair PCS PCS OMIM:313700 17.02.2009
+MIM:313700 ANDROGEN RECEPTOR HP:0008730 Female external genitalia in males IEA IEA 17.02.2009
+MIM:313700 ANDROGEN RECEPTOR HP:0002221 Absent axillary hair PCS PCS OMIM:313700 20.02.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-601375.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-601375.tab 2012-02-17 21:12:20 UTC (rev 4169)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-601375.tab 2012-02-20 21:54:28 UTC (rev 4170)
@@ -1,12 +1,13 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0000006 IEA 17.02.2009
-MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0000968 FMA:69070 PATO:0000640 ITM 17.02.2009
-MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0000975 ITM 17.02.2009
-MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0001064 ITM 17.02.2009
-MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0001662 IEA 17.02.2009
-MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0002223 PATO:0001557 FMA:71098 IEA 17.02.2009
-MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0004518 IEA 17.02.2009
-MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0004765 IEA 17.02.2009
-MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0004772 IEA 17.02.2009
-MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0004777 IEA 17.02.2009
-MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0008382 IEA 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
+MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0000968 Ectodermal dysplasia ITM ITM 17.02.2009
+MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0000975 Hyperhidrosis ITM ITM 17.02.2009
+MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0001064 Diaphoresis ITM ITM 17.02.2009
+MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0001662 Bradycardia IEA IEA 17.02.2009
+MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0002223 Absent eyebrow IEA IEA 17.02.2009
+MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0002215 Sparse axillary hair PCS PCS MIM:601375 17.02.2009
+MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0004765 Episodic supraventricular tachycardia IEA IEA 17.02.2009
+MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0004772 short, thin, sparse, pale scalp hair IEA IEA 17.02.2009
+MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0004777 short, sparse eyelashes IEA IEA 17.02.2009
+MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0008382 Dystrophic thickened nails IEA IEA 17.02.2009
+MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0002225 Sparse pubic hair PCS PCS MIM:601375 20.02.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-608154.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-608154.tab 2012-02-17 21:12:20 UTC (rev 4169)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-608154.tab 2012-02-20 21:54:28 UTC (rev 4170)
@@ -1,25 +1,26 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORTSTATURE, AND SLENDER BONES HP:0000007 IEA 17.02.2009
-MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORTSTATURE, AND SLENDER BONES HP:0000327 FMA:9711 PATO:0000645 IEA 17.02.2009
-MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORTSTATURE, AND SLENDER BONES HP:0000404 GO:0007605 PATO:0000462 ITM 17.02.2009
-MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORTSTATURE, AND SLENDER BONES HP:0000490 IEA 17.02.2009
-MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORTSTATURE, AND SLENDER BONES HP:0000951 FMA:7163 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORTSTATURE, AND SLENDER BONES HP:0001249 IEA 17.02.2009
-MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORTSTATURE, AND SLENDER BONES HP:0001250 IEA 17.02.2009
-MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORTSTATURE, AND SLENDER BONES HP:0001508 IEA 17.02.2009
-MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORTSTATURE, AND SLENDER BONES HP:0001509 FMA:20394 PATO:0000569 IEA 17.02.2009
-MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORTSTATURE, AND SLENDER BONES HP:0001511 IEA 17.02.2009
-MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORTSTATURE, AND SLENDER BONES HP:0001518 IEA 17.02.2009
-MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORTSTATURE, AND SLENDER BONES HP:0001547 FMA:7480 PATO:0000051 IEA PATO:0000460 17.02.2009
-MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORTSTATURE, AND SLENDER BONES HP:0002750 GO:0070977 PATO:0000911 IEA 17.02.2009
-MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORTSTATURE, AND SLENDER BONES HP:0002857 ITM 17.02.2009
-MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORTSTATURE, AND SLENDER BONES HP:0002967 IEA 17.02.2009
-MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORTSTATURE, AND SLENDER BONES HP:0003032 FMA:42385 PATO:0000574 IEA 17.02.2009
-MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORTSTATURE, AND SLENDER BONES HP:0004993 IEA 17.02.2009
-MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORTSTATURE, AND SLENDER BONES HP:0005328 IEA 17.02.2009
-MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORTSTATURE, AND SLENDER BONES HP:0006153 IEA 17.02.2009
-MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORTSTATURE, AND SLENDER BONES HP:0007464 IEA 17.02.2009
-MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORTSTATURE, AND SLENDER BONES HP:0008513 ITM 17.02.2009
-MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORTSTATURE, AND SLENDER BONES HP:0008530 ITM 17.02.2009
-MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORTSTATURE, AND SLENDER BONES HP:0009059 IEA 17.02.2009
-MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORTSTATURE, AND SLENDER BONES HP:0009064 ITM 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
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0000327 Hypoplasia of the maxilla IEA IEA 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0000404 Deafness ITM ITM 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0000490 Deeply set eye IEA IEA 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0000951 Abnormality of the skin IEA IEA 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0001249 Intellectual disability IEA IEA 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0001250 Seizures IEA IEA 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0001508 Failure to thrive IEA IEA 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0004322 Short stature PCS PCS MIM:608154 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0001511 Intrauterine growth restriction IEA IEA 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0001518 Low birth weight IEA IEA 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0001547 Abnormality of the morphology or size of the rib cage IEA IEA 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0002750 Delayed skeletal maturation IEA IEA 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0002857 Genu valgum ITM ITM 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0002967 Cubitus valgus IEA IEA 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0003032 Short femoral neck IEA IEA 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0004993 Slender long bones with narrow diaphyses IEA IEA 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0005328 Progeroid facial appearance IEA IEA 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0006153 Disharmonious carpal bone IEA IEA 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0002215 Sparse axillary hair PCS PCS MIM:608154 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0008513 Bilateral conductive deafness ITM ITM 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0008530 Bilateral sensorineural deafness ITM ITM 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0009059 Congenital generalized lipodystrophy IEA IEA 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0009064 Generalized lipodystrophy ITM ITM 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0007464 Sparse facial hair PCS PCS MIM:608154 20.02.2012
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <pr...@us...> - 2012-02-21 08:10:41
|
Revision: 4171
http://obo.svn.sourceforge.net/obo/?rev=4171&view=rev
Author: probins
Date: 2012-02-21 08:10:30 +0000 (Tue, 21 Feb 2012)
Log Message:
-----------
New corrected annotations
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/MIM-180730.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-200110.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-308830.tab
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-180730.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-200110.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-234030.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-257960.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-259050.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-308830.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-311000.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-313700.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-608154.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-180730.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-180730.tab 2012-02-20 21:54:28 UTC (rev 4170)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-180730.tab 2012-02-21 08:10:30 UTC (rev 4171)
@@ -1,6 +1,7 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:180730 ROMBO SYNDROME HP:0000006 IEA 17.02.2009
-MIM:180730 ROMBO SYNDROME HP:0001939 GO:0008152 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:180730 ROMBO SYNDROME HP:0002671 MPATH:234 PATO:0000912 IEA 17.02.2009
-MIM:180730 ROMBO SYNDROME HP:0004516 IEA 17.02.2009
-MIM:180730 ROMBO SYNDROME HP:0007380 IEA 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
+MIM:180730 ROMBO SYNDROME HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:180730 ROMBO SYNDROME HP:0000534 Abnormality of the eyebrow PCS PCS MIM:180730 17.02.2009
+MIM:180730 ROMBO SYNDROME HP:0002671 Basal cell carcinoma PCS PCS MIM:180730 17.02.2009
+MIM:180730 ROMBO SYNDROME HP:0004516 absent/abnormal eyelashes and eyebrows IEA IEA 17.02.2009
+MIM:180730 ROMBO SYNDROME HP:0007380 Facial telangiectatic vessels IEA IEA 17.02.2009
+MIM:180730 ROMBO SYNDROME HP:0000499 Abnormality of the eyelashes PCS PCS MIM:180730 21.02.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-200110.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-200110.tab 2012-02-20 21:54:28 UTC (rev 4170)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-200110.tab 2012-02-21 08:10:30 UTC (rev 4171)
@@ -1,11 +1,13 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:200110 ABLEPHARON-MACROSTOMIA SYNDROME HP:0000007 IEA 17.02.2009
-MIM:200110 ABLEPHARON-MACROSTOMIA SYNDROME HP:0000119 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:200110 ABLEPHARON-MACROSTOMIA SYNDROME HP:0000153 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:200110 ABLEPHARON-MACROSTOMIA SYNDROME HP:0000598 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:200110 ABLEPHARON-MACROSTOMIA SYNDROME HP:0000958 FMA:7163 PATO:0001824 IEA 17.02.2009
-MIM:200110 ABLEPHARON-MACROSTOMIA SYNDROME HP:0001126 IEA 17.02.2009
-MIM:200110 ABLEPHARON-MACROSTOMIA SYNDROME HP:0002336 IEA 17.02.2009
-MIM:200110 ABLEPHARON-MACROSTOMIA SYNDROME HP:0002933 IEA 17.02.2009
-MIM:200110 ABLEPHARON-MACROSTOMIA SYNDROME HP:0006709 FMA:67771 PATO:0000587 FMA:67771 IEA 17.02.2009
-MIM:200110 ABLEPHARON-MACROSTOMIA SYNDROME HP:0007926 IEA 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
+MIM:200110 ABLEPHARON-MACROSTOMIA SYNDROME HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:200110 ABLEPHARON-MACROSTOMIA SYNDROME HP:0000119 Abnormality of the genitourinary system IEA IEA 17.02.2009
+MIM:200110 ABLEPHARON-MACROSTOMIA SYNDROME HP:0000153 Abnormality of the mouth IEA IEA 17.02.2009
+MIM:200110 ABLEPHARON-MACROSTOMIA SYNDROME HP:0000598 Abnormality of the ear IEA IEA 17.02.2009
+MIM:200110 ABLEPHARON-MACROSTOMIA SYNDROME HP:0000958 Dry skin IEA IEA 17.02.2009
+MIM:200110 ABLEPHARON-MACROSTOMIA SYNDROME HP:0001126 Cryptophthalmos IEA IEA 17.02.2009
+MIM:200110 ABLEPHARON-MACROSTOMIA SYNDROME HP:0002336 IEA IEA 17.02.2009
+MIM:200110 ABLEPHARON-MACROSTOMIA SYNDROME HP:0002933 Ventral hernia IEA IEA 17.02.2009
+MIM:200110 ABLEPHARON-MACROSTOMIA SYNDROME HP:0006709 Aplasia/Hypoplasia of the nipples IEA IEA 17.02.2009
+MIM:200110 ABLEPHARON-MACROSTOMIA SYNDROME HP:0011224 Ablepharon PCS PCS MIM:200110 17.02.2009
+MIM:200110 ABLEPHARON-MACROSTOMIA SYNDROME HP:0000561 Absent eyelashes PCS PCS MIM:200110 21.02.2012
+MIM:200110 ABLEPHARON-MACROSTOMIA SYNDROME HP:0002223 Absent eyebrow PCS PCS MIM:200110 21.02.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-308830.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-308830.tab 2012-02-20 21:54:28 UTC (rev 4170)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-308830.tab 2012-02-21 08:10:30 UTC (rev 4171)
@@ -1,10 +1,11 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:308830 KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY HP:0000252 FMA:46565 PATO:0000587 IEA 17.02.2009
-MIM:308830 KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY HP:0001417 IEA 17.02.2009
-MIM:308830 KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY HP:0001432 GO:0016265 PATO:0000694 IEA 17.02.2009
-MIM:308830 KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY HP:0001516 ITM 17.02.2009
-MIM:308830 KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY HP:0002059 IEA 17.02.2009
-MIM:308830 KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY HP:0002298 PATO:0001557 FMA:53667 ITM 17.02.2009
-MIM:308830 KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY HP:0004548 IEA 17.02.2009
-MIM:308830 KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY HP:0007439 IEA 17.02.2009
-MIM:308830 KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY HP:0008884 IEA 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
+MIM:308830 KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY HP:0000252 Microcephaly IEA IEA 17.02.2009
+MIM:308830 KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY HP:0001417 X-linked inheritance IEA IEA 17.02.2009
+MIM:308830 KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY HP:0001432 Early death IEA IEA 17.02.2009
+MIM:308830 KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY HP:0001516 Dwarfism ITM ITM 17.02.2009
+MIM:308830 KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY HP:0002059 Cerebral atrophy IEA IEA 17.02.2009
+MIM:308830 KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY HP:0002298 Absent hair PCS PCS MIM:308830 17.02.2009
+MIM:308830 KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY HP:0007439 Generalized keratosis follicularis IEA IEA 17.02.2009
+MIM:308830 KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY HP:0008884 Severe congenital proportionate dwarfism IEA IEA 17.02.2009
+MIM:308830 KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY HP:0002223 Absent eyebrow PCS PCS MIM:308830 21.02.2012
+MIM:308830 KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY HP:0000561 Absent eyelashes PCS PCS MIM:308830 21.02.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-180730.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-180730.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-180730.tab 2012-02-21 08:10:30 UTC (rev 4171)
@@ -0,0 +1,7 @@
+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:180730 ROMBO SYNDROME HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:180730 ROMBO SYNDROME HP:0000534 Abnormality of the eyebrow PCS PCS MIM:180730 17.02.2009
+MIM:180730 ROMBO SYNDROME HP:0002671 Basal cell carcinoma PCS PCS MIM:180730 17.02.2009
+MIM:180730 ROMBO SYNDROME HP:0004516 absent/abnormal eyelashes and eyebrows IEA IEA 17.02.2009
+MIM:180730 ROMBO SYNDROME HP:0007380 Facial telangiectatic vessels IEA IEA 17.02.2009
+MIM:180730 ROMBO SYNDROME HP:0000499 Abnormality of the eyelashes PCS PCS MIM:180730 21.02.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-200110.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-200110.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-200110.tab 2012-02-21 08:10:30 UTC (rev 4171)
@@ -0,0 +1,13 @@
+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:200110 ABLEPHARON-MACROSTOMIA SYNDROME HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:200110 ABLEPHARON-MACROSTOMIA SYNDROME HP:0000119 Abnormality of the genitourinary system IEA IEA 17.02.2009
+MIM:200110 ABLEPHARON-MACROSTOMIA SYNDROME HP:0000153 Abnormality of the mouth IEA IEA 17.02.2009
+MIM:200110 ABLEPHARON-MACROSTOMIA SYNDROME HP:0000598 Abnormality of the ear IEA IEA 17.02.2009
+MIM:200110 ABLEPHARON-MACROSTOMIA SYNDROME HP:0000958 Dry skin IEA IEA 17.02.2009
+MIM:200110 ABLEPHARON-MACROSTOMIA SYNDROME HP:0001126 Cryptophthalmos IEA IEA 17.02.2009
+MIM:200110 ABLEPHARON-MACROSTOMIA SYNDROME HP:0002336 IEA IEA 17.02.2009
+MIM:200110 ABLEPHARON-MACROSTOMIA SYNDROME HP:0002933 Ventral hernia IEA IEA 17.02.2009
+MIM:200110 ABLEPHARON-MACROSTOMIA SYNDROME HP:0006709 Aplasia/Hypoplasia of the nipples IEA IEA 17.02.2009
+MIM:200110 ABLEPHARON-MACROSTOMIA SYNDROME HP:0011224 Ablepharon PCS PCS MIM:200110 17.02.2009
+MIM:200110 ABLEPHARON-MACROSTOMIA SYNDROME HP:0000561 Absent eyelashes PCS PCS MIM:200110 21.02.2012
+MIM:200110 ABLEPHARON-MACROSTOMIA SYNDROME HP:0002223 Absent eyebrow PCS PCS MIM:200110 21.02.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-234030.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-234030.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-234030.tab 2012-02-21 08:10:30 UTC (rev 4171)
@@ -0,0 +1,10 @@
+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:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0000992 Photosensitivity IEA IEA 17.02.2009
+MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0002208 Coarse hair ITM ITM 17.02.2009
+MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0010719 Abnormality of hair texture PCS PCS MIM:234030 17.02.2009
+MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0003680 Nonprogressive disorder ITM ITM 17.02.2009
+MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0000653 Sparse eyelashes PCS PCS MIM:234030 17.02.2009
+MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0007154 Nonprogressive intellectual disability IEA IEA 17.02.2009
+MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0008070 Sparse hair PCS PCS MIM:234030 17.02.2009
+MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0000535 Sparse eyebrow PCS PCS MIM:234030 20.02.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-257960.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-257960.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-257960.tab 2012-02-21 08:10:30 UTC (rev 4171)
@@ -0,0 +1,17 @@
+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:257960 OCULOTRICHODYSPLASIA HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:257960 OCULOTRICHODYSPLASIA HP:0000510 Retinitis pigmentosa IEA IEA 17.02.2009
+MIM:257960 OCULOTRICHODYSPLASIA HP:0000670 Carious teeth IEA IEA 17.02.2009
+MIM:257960 OCULOTRICHODYSPLASIA HP:0006349 Agenesis of permanent teeth PCS PCS MIM:257960 17.02.2009
+MIM:257960 OCULOTRICHODYSPLASIA HP:0000958 Dry skin IEA IEA 17.02.2009
+MIM:257960 OCULOTRICHODYSPLASIA HP:0001808 Fragile nails IEA IEA 17.02.2009
+MIM:257960 OCULOTRICHODYSPLASIA HP:0001939 Abnormality of metabolism/homeostasis IEA IEA 17.02.2009
+MIM:257960 OCULOTRICHODYSPLASIA HP:0002164 Nail dysplasia IEA IEA 17.02.2009
+MIM:257960 OCULOTRICHODYSPLASIA HP:0002552 Trichodysplasia IEA IEA 17.02.2009
+MIM:257960 OCULOTRICHODYSPLASIA HP:0002209 Sparse scalp hair PCS PCS MIM:257960 17.02.2009
+MIM:257960 OCULOTRICHODYSPLASIA HP:0004528 Generalized hypotrichosis IEA IEA 17.02.2009
+MIM:257960 OCULOTRICHODYSPLASIA HP:0006313 Widely spaced primary teeth IEA IEA 17.02.2009
+MIM:257960 OCULOTRICHODYSPLASIA HP:0006347 Microdontia of primary teeth IEA IEA 17.02.2009
+MIM:257960 OCULOTRICHODYSPLASIA HP:0007853 Scant eyelashes IEA IEA 17.02.2009
+MIM:257960 OCULOTRICHODYSPLASIA HP:0002215 Sparse axillary hair PCS PCS MIM:257960 20.02.2012
+MIM:257960 OCULOTRICHODYSPLASIA HP:0002225 Sparse pubic hair PCS PCS MIM:257960 20.02.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-259050.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-259050.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-259050.tab 2012-02-21 08:10:30 UTC (rev 4171)
@@ -0,0 +1,37 @@
+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:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0000256 Macrocephaly IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0000272 Malar hypoplasia IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0000327 Hypoplasia of the maxilla IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0000365 Hearing impairment IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0000400 Macrotia IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0000490 Deeply set eye IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0000494 Downslanted palpebral fissures IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0000664 Synophrys IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0000767 Pectus excavatum IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0000771 Gynecomastia IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0000774 Narrow chest IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0000939 Osteoporosis IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0001115 Posterior polar cataract IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0001249 Intellectual disability PCS PCS MIM:259050 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0001371 Contractures PCS PCS MIM:259050 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0001420 Isolated cases IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0004322 Short stature PCS PCS MIM:259050 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0001761 Pes cavus IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0001840 Metatarsus adductus IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0002180 Neurodegeneration IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0002221 Absent axillary hair ITM ITM 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0002691 Platybasia ITM ITM 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0002808 Kyphosis IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0002857 Genu valgum IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0002868 Narrow iliac wings IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0002978 Knee contractures ITM ITM 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0003273 Hip contractures ITM ITM 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0003301 Irregular vertebral endplates IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0003693 Distal amyotrophy IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0002550 Absent facial hair IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0005103 Cartilaginous ossification of pinnae IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0005121 Posterior scalloping of vertebral bodies IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0008541 Superiorly displaced ears IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0009882 Short distal phalanx of finger IEA IEA 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0009473 Joint contractures involving the joints of the hand ITM ITM 17.02.2009
+MIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND HP:0002221 Absent axillary hair IEA IEA 20.02.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-308830.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-308830.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-308830.tab 2012-02-21 08:10:30 UTC (rev 4171)
@@ -0,0 +1,11 @@
+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:308830 KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY HP:0000252 Microcephaly IEA IEA 17.02.2009
+MIM:308830 KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY HP:0001417 X-linked inheritance IEA IEA 17.02.2009
+MIM:308830 KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY HP:0001432 Early death IEA IEA 17.02.2009
+MIM:308830 KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY HP:0001516 Dwarfism ITM ITM 17.02.2009
+MIM:308830 KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY HP:0002059 Cerebral atrophy IEA IEA 17.02.2009
+MIM:308830 KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY HP:0002298 Absent hair PCS PCS MIM:308830 17.02.2009
+MIM:308830 KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY HP:0007439 Generalized keratosis follicularis IEA IEA 17.02.2009
+MIM:308830 KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY HP:0008884 Severe congenital proportionate dwarfism IEA IEA 17.02.2009
+MIM:308830 KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY HP:0002223 Absent eyebrow PCS PCS MIM:308830 21.02.2012
+MIM:308830 KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY HP:0000561 Absent eyelashes PCS PCS MIM:308830 21.02.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-311000.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-311000.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-311000.tab 2012-02-21 08:10:30 UTC (rev 4171)
@@ -0,0 +1,12 @@
+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:311000 OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA HP:0000508 Ptosis IEA IEA 17.02.2009
+MIM:311000 OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA HP:0000545 Myopia IEA IEA 17.02.2009
+MIM:311000 OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA HP:0000546 Retinal degeneration IEA IEA 17.02.2009
+MIM:311000 OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA HP:0000602 Ophthalmoplegia IEA IEA 17.02.2009
+MIM:311000 OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA HP:0001417 X-linked inheritance IEA IEA 17.02.2009
+MIM:311000 OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA HP:0002414 Spina bifida IEA IEA 17.02.2009
+MIM:311000 OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA HP:0006443 Patellar aplasia ITM ITM 17.02.2009
+MIM:311000 OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA HP:0003438 Absent Achilles reflex PCS PCS MIM:311000 17.02.2009
+MIM:311000 OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA HP:0007686 Abnormal pupillary function IEA IEA 17.02.2009
+MIM:311000 OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA HP:0007945 Choroidal degeneration IEA IEA 17.02.2009
+MIM:311000 OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA HP:0006844 Absent patellar reflexes PCS PCS MIM:311000 20.02.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-313700.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-313700.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-313700.tab 2012-02-21 08:10:30 UTC (rev 4171)
@@ -0,0 +1,11 @@
+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:313700 ANDROGEN RECEPTOR HP:0000023 Inguinal hernia IEA IEA 17.02.2009
+MIM:313700 ANDROGEN RECEPTOR HP:0000051 Perineal hypospadias IEA IEA 17.02.2009
+MIM:313700 ANDROGEN RECEPTOR HP:0000151 Aplasia of the uterus ITM ITM 17.02.2009
+MIM:313700 ANDROGEN RECEPTOR HP:0000765 Abnormality of the thorax IEA IEA 17.02.2009
+MIM:313700 ANDROGEN RECEPTOR HP:0001417 X-linked inheritance IEA IEA 17.02.2009
+MIM:313700 ANDROGEN RECEPTOR HP:0001608 Abnormality of the voice IEA IEA 17.02.2009
+MIM:313700 ANDROGEN RECEPTOR HP:0001939 Abnormality of metabolism/homeostasis IEA IEA 17.02.2009
+MIM:313700 ANDROGEN RECEPTOR HP:0002555 Absent pubic hair PCS PCS OMIM:313700 17.02.2009
+MIM:313700 ANDROGEN RECEPTOR HP:0008730 Female external genitalia in males IEA IEA 17.02.2009
+MIM:313700 ANDROGEN RECEPTOR HP:0002221 Absent axillary hair PCS PCS OMIM:313700 20.02.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-608154.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-608154.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-608154.tab 2012-02-21 08:10:30 UTC (rev 4171)
@@ -0,0 +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
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0000327 Hypoplasia of the maxilla IEA IEA 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0000404 Deafness ITM ITM 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0000490 Deeply set eye IEA IEA 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0000951 Abnormality of the skin IEA IEA 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0001249 Intellectual disability IEA IEA 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0001250 Seizures IEA IEA 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0001508 Failure to thrive IEA IEA 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0004322 Short stature PCS PCS MIM:608154 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0001511 Intrauterine growth restriction IEA IEA 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0001518 Low birth weight IEA IEA 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0001547 Abnormality of the morphology or size of the rib cage IEA IEA 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0002750 Delayed skeletal maturation IEA IEA 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0002857 Genu valgum ITM ITM 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0002967 Cubitus valgus IEA IEA 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0003032 Short femoral neck IEA IEA 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0004993 Slender long bones with narrow diaphyses IEA IEA 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0005328 Progeroid facial appearance IEA IEA 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0006153 Disharmonious carpal bone IEA IEA 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0002215 Sparse axillary hair PCS PCS MIM:608154 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0008513 Bilateral conductive deafness ITM ITM 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0008530 Bilateral sensorineural deafness ITM ITM 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0009059 Congenital generalized lipodystrophy IEA IEA 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0009064 Generalized lipodystrophy ITM ITM 17.02.2009
+MIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT HP:0007464 Sparse facial hair PCS PCS MIM:608154 20.02.2012
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <pr...@us...> - 2012-02-25 12:38:21
|
Revision: 4173
http://obo.svn.sourceforge.net/obo/?rev=4173&view=rev
Author: probins
Date: 2012-02-25 12:38:15 +0000 (Sat, 25 Feb 2012)
Log Message:
-----------
Corrected versions of Saethre Chotzen
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/MIM-101400.tab
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-101400.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-101400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-101400.tab 2012-02-25 11:53:17 UTC (rev 4172)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-101400.tab 2012-02-25 12:38:15 UTC (rev 4173)
@@ -8,7 +8,7 @@
MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0000272 Malar hypoplasia IEA IEA 17.02.2009
MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0000294 Low anterior hairline IEA IEA 17.02.2009
MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0000316 Hypertelorism IEA IEA 17.02.2009
-MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0000324 Asymmetric face IEA IEA 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0000324 Facial asymmetry IEA IEA 17.02.2009
MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0000327 Hypoplasia of the maxilla IEA IEA 17.02.2009
MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0000348 High forehead ITM ITM 17.02.2009
MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0000369 Low-set ears IEA IEA 17.02.2009
@@ -21,7 +21,6 @@
MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0000557 Buphthalmos IEA IEA 17.02.2009
MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0000586 Shallow orbits IEA IEA 17.02.2009
MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0000614 Abnormality of the lacrimal duct IEA IEA 17.02.2009
-MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 IEA IEA 17.02.2009
MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0001156 Brachydactyly IEA IEA 17.02.2009
MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0001159 Syndactyly IEA IEA 17.02.2009
MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0001357 Plagiocephaly IEA IEA 17.02.2009
@@ -41,4 +40,4 @@
MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0006196 Bifid terminal phalanges digits 2 and 3 IEA IEA 17.02.2009
MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0010104 Aplasia of the 1st metatarsal IEA IEA 17.02.2009
MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0004443 Lambdoidal craniosynostosis IEA IEA 24.02.2012
-MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0005457 Craniosynostosis of coronal, lambdoid, and/or metopic sutures IEA IEA 24.02.2012
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0011323 Metopic synostosis IEA IEA 24.02.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-101400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-101400.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-101400.tab 2012-02-25 12:38:15 UTC (rev 4173)
@@ -0,0 +1,43 @@
+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:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0000175 Cleft palate IEA IEA 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0000189 Narrow palate IEA IEA 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0000248 Brachycephaly IEA IEA 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0000263 Oyxcephaly IEA IEA 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0000270 Delayed closure of fontanelles IEA IEA 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0000272 Malar hypoplasia IEA IEA 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0000294 Low anterior hairline IEA IEA 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0000316 Hypertelorism IEA IEA 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0000324 Facial asymmetry IEA IEA 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0000327 Hypoplasia of the maxilla IEA IEA 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0000348 High forehead ITM ITM 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0000369 Low-set ears IEA IEA 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0000404 Deafness IEA IEA 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0008551 Microtia IEA IEA 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0000412 Prominent ears ITM ITM 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0000444 Beaked nose IEA IEA 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0000486 Strabismus IEA IEA 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0000508 Ptosis IEA IEA 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0000557 Buphthalmos IEA IEA 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0000586 Shallow orbits IEA IEA 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0000614 Abnormality of the lacrimal duct IEA IEA 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0001156 Brachydactyly IEA IEA 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0001159 Syndactyly IEA IEA 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0001357 Plagiocephaly IEA IEA 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0004322 Short stature IEA IEA 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0001770 Toe syndactyly IEA IEA 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0001822 Hallux valgus IEA IEA 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0002516 Increased intracranial pressure ITM ITM 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0002564 Cardiac malformation IEA IEA 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0002644 Abnormality of the pelvis IEA IEA 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0002697 Parietal foramina IEA IEA 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0002974 Radioulnar synostosis IEA IEA 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0003002 Breast carcinoma ITM ITM 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0003828 Variable expressivity IEA IEA 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0004209 Clinodactyly of the 5th finger IEA IEA 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0005283 Thin, long, pointed nose IEA IEA 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0004440 Coronal craniosynostosis IEA IEA 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0006196 Bifid terminal phalanges digits 2 and 3 IEA IEA 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0010104 Aplasia of the 1st metatarsal IEA IEA 17.02.2009
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0004443 Lambdoidal craniosynostosis IEA IEA 24.02.2012
+MIM:101400 SAETHRE-CHOTZEN SYNDROME FGFR2, TWIST1 HP:0011323 Metopic synostosis IEA IEA 24.02.2012
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
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From: <pr...@us...> - 2012-03-01 08:56:00
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Revision: 4178
http://obo.svn.sourceforge.net/obo/?rev=4178&view=rev
Author: probins
Date: 2012-03-01 08:55:48 +0000 (Thu, 01 Mar 2012)
Log Message:
-----------
Revised annotations
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/MIM-180849.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-211910.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-212720.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-222470.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-300106.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-300558.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-309585.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-601379.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-602483.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-610883.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-610883.tab
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-180849.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-211910.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-212720.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-222470.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-300106.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-300558.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-309585.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-601379.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-602483.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-180849.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-180849.tab 2012-02-27 18:33:41 UTC (rev 4177)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-180849.tab 2012-03-01 08:55:48 UTC (rev 4178)
@@ -1,120 +1,120 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add'l Entity Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Sex Negation ID Negation Name Description Orthologs Pub Date Created
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000006 Autosomal dominant inheritance PCS http://www.ncbi.nlm.nih.gov/books/NBK1526/ 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000028 Cryptorchidism PCS 78% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000047 Hypospadias FMA:19650 External urethral orifice PATO:0001920 mislocalised ventrally PCS 8% Not explicitly mentioned in GeneReviews but is in OMIM's clinical synopsis. ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000049 Shawl scrotum PCS 8% Not explicitly mentioned in GeneReviews but is in OMIM's clinical synopsis. ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000156 High-arched palate PCS 100% ISBN-13:978-0721606156; http://www.ncbi.nlm.nih.gov/books/NBK1526/ 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000347 Micrognathia FMA:54396 Jaw PATO:0000587 decreased size PCS 49% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000252 Microcephaly FMA:46565 Skull PATO:0000587 decreased size PCS 35% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002007 Frontal bossing PCS 33% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000260 Wide anterior fontanel FMA:75439 Anterior fontanelle PATO:0000600 increased width PCS 41% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000270 Delayed closure of fontanelles PCS 24% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000286 Epicanthus PCS 55% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000294 Low anterior hairline PCS 24% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000327 Hypoplasia of the maxilla FMA:9711 Maxilla PATO:0000645 hypoplastic PCS 100% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000365 Hearing impairment PCS 24% PMID:16868563 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000369 Low-set ears FMA:52780 Ear PATO:0001476 decreased position PCS 84% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000377 Abnormality of the pinna FMA:52781 External ear PATO:0000051 morphology PCS 84% PATO:0000460 abnormal ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000431 Broad nasal bridge PCS occasional Not sure about the frequency. I didn't see this specifically mentioned in GeneReviews or Smith's but this reference mentions it to describe the facial appearance. PMID:17942008 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000444 Beaked nose PCS 90% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000486 Strabismus PCS 69% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000494 Downward slanting palpebral fissures PCS 88% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000501 Glaucoma PCS 8% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000508 Ptosis PCS 36% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000518 Cataract PCS 8% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000527 Long eyelashes FMA:70742 Set of eyelashes PATO:0000573 increased length PCS 87% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000574 Thick eyebrows FMA:71098 Set of eyebrows PATO:0000591 increased thickness PCS 76% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000579 Nasolacrimal duct obstruction PCS 43% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000589 Coloboma FMA:54448 Eye PATO:0000609 closure incomplete PCS 8% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000663 Enophthalmos FMA:54448 Eye PATO:0001477 retracted PCS 22% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000736 Short attention span PCS frequent http://www.ncbi.nlm.nih.gov/books/NBK1526/ 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001007 Hirsutism PCS 75% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001135 Chorioretinal dystrophy IEA 31% I'm not sure where this term and frequency come from. Retinal abnormalities are mentioned in PMID:11004107, but that is probably already covered in refractive errors. Maybe you can find this one. :) 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001159 Syndactyly FMA:85518 Digit PATO:0000642 fused with FMA:85518 Digit PCS 7.5% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0010442 Polydactyly PCS 8% Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001212 Prominent fingertip pads PCS 31% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002316 Mental retardation, moderate to severe PCS 100% ISBN-13:978-0721606156; http://www.ncbi.nlm.nih.gov/books/NBK1526/ 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001250 Seizures PCS 23% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001252 Muscular hypotonia FMA:30316 Muscle PATO:0001619 decreased tonicity PCS 67% PATO:0001869 pathological ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001274 Agenesis of corpus callosum PATO:0001557 FMA:86464 Corpus callosum PCS 7.5% Not explicitly mentioned in GeneReviews but is in OMIM's clinical synopsis. ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001347 Hyperreflexia PCS 40% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0004322 Short stature FMA:20394 Human body PATO:0000569 decreased height PCS typical http://www.ncbi.nlm.nih.gov/books/NBK1526/ 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001510 Growth retardation GO:0040007 growth PATO:0000911 decreased rate PCS 75% PMID:16868563 says <3rd centile so there might be a more specific term. ISBN-13:978-0721606156; http://www.ncbi.nlm.nih.gov/books/NBK1526/; PMID:16868563 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001584 Highly arched eyebrows PCS 73% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001629 Ventricular septal defect FMA:7133 Interventricular septum PATO:0000609 closure incomplete PCS 33% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001631 Atrial septal defect PCS 33% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001643 Patent ductus arteriosus PCS 33% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001763 Pes planus PCS 72% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0009765 Columella, low hanging PCS 90% GeneReviews says extending below nares but Smith's says short columella. Include both? ISBN-13:978-0721606156; http://www.ncbi.nlm.nih.gov/books/NBK1526/ 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002019 Constipation GO:0030421 defecation PATO:0000381 decreased frequency PCS typical http://www.ncbi.nlm.nih.gov/books/NBK1526/ 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002162 Low posterior hairline PCS 42% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002236 Frontal hair upsweep PCS 20% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002317 Unsteady gait PCS 85% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002353 EEG abnormalities PCS 57% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002370 Poor coordination TAS common ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0006936 Speech difficulties PCS 90% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002650 Scoliosis PATO:0002049 lateral and rotional curvature PCS 42% PATO:0001869 pathological ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002697 Parietal foramina PCS 8% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002700 Large foramen magnum FMA:75306 Foramen magnum PATO:0000586 increased size PCS 8% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002750 Delayed skeletal maturation GO:0070977 bone maturation PATO:0000911 decreased rate PCS 74% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002999 Dislocation of patella FMA:24485 Patella PATO:0001852 dislocated PCS 8% ISBN-13:978-0721606156; http://www.ncbi.nlm.nih.gov/books/NBK1526/ 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0010055 Broad hallux FMA:25047 Big toe PATO:0000600 increased width PCS 100% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0003181 Small, flared iliac wings PCS 26% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0003298 Spina bifida occulta PCS 47% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0004209 Clinodactyly of the 5th finger FMA:24949 Little finger HP:0001157 PCS 62% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0004411 Deviated nasal septum PCS 71% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0005306 Capillary hemangiomas FMA:63194 Capillary HP:0001028 Hemangiomas PCS 25% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0008107 Plantar crease between first and second toes PCS 33% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0009651 Broad phalanges of the thumb FMA:24938 Thumb PATO:0000600 increased width PCS 87% ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000160 Narrow mouth PCS 56% ISBN-13:978-0721606156
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0005895 Radial deviation of thumb terminal phalanx PCS 87% ISBN-13:978-0721606156
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001500 Broad fingers PCS 87% ISBN-13:978-0721606156
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0003319 Abnormality of the cervical spine PCS 37% ISBN-13:978-0721606156
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000077 Abnormality of the kidney PCS 52% ISBN-13:978-0721606156
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0010562 Keloids PCS 22% ISBN-13:978-0721606156
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000539 Abnormality of refraction PCS 41% ISBN-13:978-0721606156; http://www.ncbi.nlm.nih.gov/books/NBK1526/
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0009921 Duane anomaly PCS 8% Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000520 Proptosis PCS 8% Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001665 Abnormality of cardiac conduction PCS 8% Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001371 Contractures PCS 8% Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000954 Transverse palmar creases PCS 8% Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001042 High axial triradius PCS 8% Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0010066 Partial/complete duplication of the phalanges of the hallux PCS 8% ISBN-13:978-0721606156; http://www.ncbi.nlm.nih.gov/books/NBK1526/
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0003083 Dislocated radial head PCS 8% Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0005743 Avascular necrosis of the capital femoral epiphysis PCS 8% ISBN-13:978-0721606156; http://www.ncbi.nlm.nih.gov/books/NBK1526/
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000136 Bifid uterus PCS 8% Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0009715 Papillary cystadenoma of the epididymis PCS 8% Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000767 Pectus excavatum PCS 8% Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002251 Congenital megacolon PCS 8% Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0008758 Stereotypical motor behaviors PCS 8% Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001335 Mirror hand movements (bimanual synkinesia) PCS 8% Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002144 Tethered cord PCS 8% Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0010775 Vascular ring PCS 8% Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0010314 Premature thelarche PCS 8% Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000273 Facial grimacing PCS typical http://www.ncbi.nlm.nih.gov/books/NBK1526/
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0011087 Talon cusp PCS typical http://www.ncbi.nlm.nih.gov/books/NBK1526/
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001956 Truncal obesity HP:0003621 Juvenile onset PCS frequent http://www.ncbi.nlm.nih.gov/books/NBK1526/
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000419 Abnormality of the nasal septum PCS 90% nasal septum extending below alae nasi; they also say columella extending below the nares ISBN-13:978-0721606156; http://www.ncbi.nlm.nih.gov/books/NBK1526/
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000079 Abnormality of the urinary system PCS common http://www.ncbi.nlm.nih.gov/books/NBK1526/
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002788 Recurrent upper respiratory tract infections HP:0003593 Infantile onset PCS 60% Not sure about onset. http://www.ncbi.nlm.nih.gov/books/NBK1526/; PMID:16868563
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001535 Poor weight gain HP:0003593 Infantile onset PCS typical http://www.ncbi.nlm.nih.gov/books/NBK1526/
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0008872 Feeding problems in infancy PCS 80% http://www.ncbi.nlm.nih.gov/books/NBK1526/; PMID:16868563
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002880 Respiratory difficulties HP:0003623 Neonatal onset PCS 51% http://www.ncbi.nlm.nih.gov/books/NBK1526/; PMID:16868563
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000481 Abnormality of the cornea PCS occasional http://www.ncbi.nlm.nih.gov/books/NBK1526/
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001388 Joint laxity PCS occasional http://www.ncbi.nlm.nih.gov/books/NBK1526/
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002870 Obstructive sleep apnea PCS frequent http://www.ncbi.nlm.nih.gov/books/NBK1526/
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001601 Laryngomalacia PCS frequent Term used was easy collapsibility of the laryngeal wall. http://www.ncbi.nlm.nih.gov/books/NBK1526/
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000689 Dental malocclusion PCS occasional http://www.ncbi.nlm.nih.gov/books/NBK1526/
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000678 Dental crowding PCS occasional http://www.ncbi.nlm.nih.gov/books/NBK1526/
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0006483 Abnormal number of teeth PCS occasional http://www.ncbi.nlm.nih.gov/books/NBK1526/
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002664 Neoplasia PCS rare mainly developmental and neural tumors; these are the common classes, although GeneReviews lists many by name in their Tumor section PMID:7747773; PMID:2586363
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0100710 Impulsivity PCS frequent http://www.ncbi.nlm.nih.gov/books/NBK1526/
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000717 Autism PCS frequent http://www.ncbi.nlm.nih.gov/books/NBK1526/
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001296 Mood alterations PCS frequent http://www.ncbi.nlm.nih.gov/books/NBK1526/
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000752 Hyperactivity PCS occasional http://www.ncbi.nlm.nih.gov/books/NBK1526/
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000742 Self-mutilation PCS occasional self-injurious behaviors http://www.ncbi.nlm.nih.gov/books/NBK1526/
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002183 Phonophobia PCS frequent decreased tolerance for noise http://www.ncbi.nlm.nih.gov/books/NBK1526/
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000756 Agoraphobia PCS frequent decreased tolerance for crowds http://www.ncbi.nlm.nih.gov/books/NBK1526/
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001561 Polyhydramnios PCS 30% PMID:16868563
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001425 Heterogeneous PCS http://www.ncbi.nlm.nih.gov/books/NBK1526/ 07.04.2011
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0003745 Sporadic PCS http://www.ncbi.nlm.nih.gov/books/NBK1526/ 07.04.2011
+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:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000006 Autosomal dominant inheritance PCS PCS http://www.ncbi.nlm.nih.gov/books/NBK1526/ 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000028 Cryptorchidism PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000047 Hypospadias PCS PCS Not explicitly mentioned in GeneReviews but is in OMIM's clinical synopsis. ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000049 Shawl scrotum PCS PCS Not explicitly mentioned in GeneReviews but is in OMIM's clinical synopsis. ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000156 High-arched palate PCS PCS ISBN-13:978-0721606156; http://www.ncbi.nlm.nih.gov/books/NBK1526/ 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000347 Micrognathia PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000252 Microcephaly PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002007 Frontal bossing PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000260 Wide anterior fontanel PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000270 Delayed closure of fontanelles PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000286 Epicanthus PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000294 Low anterior hairline PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000327 Hypoplasia of the maxilla PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000365 Hearing impairment PCS PCS PMID:16868563 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000369 Low-set ears PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000377 Abnormality of the pinna PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000431 Broad nasal bridge PCS PCS Not sure about the frequency. I didn't see this specifically mentioned in GeneReviews or Smith's but this reference mentions it to describe the facial appearance. PMID:17942008 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000444 Beaked nose PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000486 Strabismus PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000494 Downslanted palpebral fissures PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000501 Glaucoma PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000508 Ptosis PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000518 Cataract PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000527 Long eyelashes PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000574 Thick eyebrow PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000579 Nasolacrimal duct obstruction PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000589 Coloboma PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000663 Enophthalmos PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000736 Short attention span PCS PCS http://www.ncbi.nlm.nih.gov/books/NBK1526/ 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001007 Hirsutism PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001135 Chorioretinal dystrophy IEA IEA I'm not sure where this term and frequency come from. Retinal abnormalities are mentioned in PMID:11004107, but that is probably already covered in refractive errors. Maybe you can find this one. :) 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001159 Syndactyly PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0010442 Polydactyly PCS PCS Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001212 Prominent fingertip pads PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002342 Intellectual disability, moderate PCS PCS ISBN-13:978-0721606156; http://www.ncbi.nlm.nih.gov/books/NBK1526/ 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001250 Seizures PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001252 Muscular hypotonia PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001274 Agenesis of corpus callosum PCS PCS Not explicitly mentioned in GeneReviews but is in OMIM's clinical synopsis. ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001347 Hyperreflexia PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0004322 Short stature PCS PCS http://www.ncbi.nlm.nih.gov/books/NBK1526/ 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001510 Growth delay PCS PCS PMID:16868563 says <3rd centile so there might be a more specific term. ISBN-13:978-0721606156; http://www.ncbi.nlm.nih.gov/books/NBK1526/; PMID:16868563 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001584 Highly arched eyebrows PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001629 Ventricular septal defect PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001631 Atrial septal defect PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001643 Patent ductus arteriosus PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001763 Pes planus PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0009765 Columella, low hanging PCS PCS GeneReviews says extending below nares but Smith's says short columella. Include both? ISBN-13:978-0721606156; http://www.ncbi.nlm.nih.gov/books/NBK1526/ 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002019 Constipation PCS PCS http://www.ncbi.nlm.nih.gov/books/NBK1526/ 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002162 Low posterior hairline PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002236 Frontal upsweep of hair PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002317 Unsteady gait PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002353 EEG abnormality PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002370 Poor coordination TAS TAS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0006863 Severe expressive language delay PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002650 Scoliosis PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002697 Parietal foramina PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002700 Large foramen magnum PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002750 Delayed skeletal maturation PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002999 Dislocation of patella PCS PCS ISBN-13:978-0721606156; http://www.ncbi.nlm.nih.gov/books/NBK1526/ 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0010055 Broad hallux PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0003181 Small, flared iliac wings PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0003298 Spina bifida occulta PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0004209 Clinodactyly of the 5th finger PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0004411 Deviated nasal septum PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0005306 Capillary hemangiomas PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0008107 Plantar crease between first and second toes PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0009651 Broad phalanges of the thumb PCS PCS ISBN-13:978-0721606156 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000160 Narrow mouth PCS PCS ISBN-13:978-0721606156
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0005895 Radial deviation of thumb terminal phalanx PCS PCS ISBN-13:978-0721606156
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001500 Broad finger PCS PCS ISBN-13:978-0721606156
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0003319 Abnormality of the cervical spine PCS PCS ISBN-13:978-0721606156
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000077 Abnormality of the kidney PCS PCS ISBN-13:978-0721606156
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0010562 Keloids PCS PCS ISBN-13:978-0721606156
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000539 Abnormality of refraction PCS PCS ISBN-13:978-0721606156; http://www.ncbi.nlm.nih.gov/books/NBK1526/
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0009921 Duane anomaly PCS PCS Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000520 Proptosis PCS PCS Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001665 Abnormality of cardiac conduction PCS PCS Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001371 Contractures PCS PCS Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000954 Single transverse palmar crease PCS PCS Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001042 High axial triradius PCS PCS Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0010066 Partial/complete duplication of the phalanges of the hallux PCS PCS ISBN-13:978-0721606156; http://www.ncbi.nlm.nih.gov/books/NBK1526/
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0003083 Dislocated radial head PCS PCS Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0005743 Avascular necrosis of the capital femoral epiphysis PCS PCS ISBN-13:978-0721606156; http://www.ncbi.nlm.nih.gov/books/NBK1526/
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000136 Bifid uterus PCS PCS Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0009715 Papillary cystadenoma of the epididymis PCS PCS Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000767 Pectus excavatum PCS PCS Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002251 Aganglionic megacolon PCS PCS Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0008758 Stereotypical motor behaviors PCS PCS Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001335 Mirror hand movements (bimanual synkinesia) PCS PCS Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002144 Tethered cord PCS PCS Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0010775 Vascular ring PCS PCS Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0010314 Premature thelarche PCS PCS Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000273 Facial grimacing PCS PCS http://www.ncbi.nlm.nih.gov/books/NBK1526/
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0011087 Talon cusp PCS PCS http://www.ncbi.nlm.nih.gov/books/NBK1526/
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001956 Truncal obesity HP:0003621 Juvenile onset PCS PCS http://www.ncbi.nlm.nih.gov/books/NBK1526/
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000419 Abnormality of the nasal septum PCS PCS nasal septum extending below alae nasi; they also say columella extending below the nares ISBN-13:978-0721606156; http://www.ncbi.nlm.nih.gov/books/NBK1526/
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000079 Abnormality of the urinary system PCS PCS http://www.ncbi.nlm.nih.gov/books/NBK1526/
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002788 Recurrent upper respiratory tract infections HP:0003593 Infantile onset PCS PCS Not sure about onset. http://www.ncbi.nlm.nih.gov/books/NBK1526/; PMID:16868563
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001535 Poor weight gain HP:0003593 Infantile onset PCS PCS http://www.ncbi.nlm.nih.gov/books/NBK1526/
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0008872 Feeding problems in infancy PCS PCS http://www.ncbi.nlm.nih.gov/books/NBK1526/; PMID:16868563
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002880 Respiratory difficulties HP:0003623 Neonatal onset PCS PCS http://www.ncbi.nlm.nih.gov/books/NBK1526/; PMID:16868563
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000481 Abnormality of the cornea PCS PCS http://www.ncbi.nlm.nih.gov/books/NBK1526/
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001388 Joint laxity PCS PCS http://www.ncbi.nlm.nih.gov/books/NBK1526/
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002870 Obstructive sleep apnea PCS PCS http://www.ncbi.nlm.nih.gov/books/NBK1526/
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001601 Laryngomalacia PCS PCS Term used was easy collapsibility of the laryngeal wall. http://www.ncbi.nlm.nih.gov/books/NBK1526/
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000689 Dental malocclusion PCS PCS http://www.ncbi.nlm.nih.gov/books/NBK1526/
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000678 Dental crowding PCS PCS http://www.ncbi.nlm.nih.gov/books/NBK1526/
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0006483 Abnormal number of teeth PCS PCS http://www.ncbi.nlm.nih.gov/books/NBK1526/
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002664 Neoplasia PCS PCS mainly developmental and neural tumors; these are the common classes, although GeneReviews lists many by name in their Tumor section PMID:7747773; PMID:2586363
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0100710 Impulsivity PCS PCS http://www.ncbi.nlm.nih.gov/books/NBK1526/
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000717 Autism PCS PCS http://www.ncbi.nlm.nih.gov/books/NBK1526/
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001296 Mood alterations PCS PCS http://www.ncbi.nlm.nih.gov/books/NBK1526/
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000752 Hyperactivity PCS PCS http://www.ncbi.nlm.nih.gov/books/NBK1526/
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000742 Self-mutilation PCS PCS self-injurious behaviors http://www.ncbi.nlm.nih.gov/books/NBK1526/
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002183 Phonophobia PCS PCS decreased tolerance for noise http://www.ncbi.nlm.nih.gov/books/NBK1526/
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000756 Agoraphobia PCS PCS decreased tolerance for crowds http://www.ncbi.nlm.nih.gov/books/NBK1526/
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001561 Polyhydramnios PCS PCS PMID:16868563
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001425 Heterogeneous PCS PCS http://www.ncbi.nlm.nih.gov/books/NBK1526/ 07.04.2011
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0003745 Sporadic PCS PCS http://www.ncbi.nlm.nih.gov/books/NBK1526/ 07.04.2011
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-211910.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-211910.tab 2012-02-27 18:33:41 UTC (rev 4177)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-211910.tab 2012-03-01 08:55:48 UTC (rev 4178)
@@ -1,55 +1,56 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0000007 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0000156 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0000193 FMA:55022 PATO:0000403 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0000248 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0000252 FMA:46565 PATO:0000587 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0000272 FMA:52747 PATO:0000645 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0000286 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0000316 FMA:54450 PATO:0000374 FMA:54449 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0000358 FMA:52780 PATO:0001922 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0000369 FMA:52780 PATO:0001476 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0000385 FMA:60984 PATO:0000645 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0000409 FMA:52781 PATO:0000587 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0000425 FMA:52745 PATO:0000407 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0000463 FMA:72005 PATO:0001474 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0000472 FMA:7155 PATO:0000573 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0000482 FMA:58238 PATO:0000587 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0000506 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0000507 FMA:59110 PATO:0000574 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0000582 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0000664 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0000689 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0000767 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0000768 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0000960 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0000995 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0001156 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0001165 FMA:9712 PATO:0000587 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0001215 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0001249 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0001250 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0001509 FMA:20394 PATO:0000569 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0001511 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0001766 FMA:9664 PATO:0000574 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0001770 FMA:25046 HP:0001159 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0001779 FMA:24492 PATO:0000574 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0001822 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0002645 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0002750 GO:0070977 PATO:0000911 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0002866 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0002938 FMA:75791 PATO:0002017 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0002967 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0003032 FMA:42385 PATO:0000574 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0003038 FMA:33977 PATO:0000645 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0003196 FMA:46472 PATO:0000645 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0003298 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0003440 FMA:16202 PATO:0001855 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0003691 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0004453 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0005456 PATO:0001557 FMA:84115 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0006166 FMA:9612 PATO:0001873 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0006292 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0006668 FMA:8515 PATO:0000645 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0008424 FMA:13076 PATO:0000587 IEA 17.02.2009
-MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0009095 IEA 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
+MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0000156 High-arched palate IEA IEA 17.02.2009
+MIM:211910 CAMPTODACTYLY SY...
[truncated message content] |
|
From: <pr...@us...> - 2012-03-01 18:27:49
|
Revision: 4180
http://obo.svn.sourceforge.net/obo/?rev=4180&view=rev
Author: probins
Date: 2012-03-01 18:27:38 +0000 (Thu, 01 Mar 2012)
Log Message:
-----------
Revised annotations
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/MIM-129500.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-164200.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-190360.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-234030.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-601345.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-234030.tab
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-129500.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-164200.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-190360.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-601345.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-129500.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-129500.tab 2012-03-01 17:22:15 UTC (rev 4179)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-129500.tab 2012-03-01 18:27:38 UTC (rev 4180)
@@ -1,21 +1,23 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:129500 ECTODERMAL DYSPLASIA 2, HIDROTIC MIM:604418 GJB6 HP:0000006 IEA 17.02.2009
-MIM:129500 ECTODERMAL DYSPLASIA 2, HIDROTIC MIM:604418 GJB6 HP:0000164 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:129500 ECTODERMAL DYSPLASIA 2, HIDROTIC MIM:604418 GJB6 HP:0000486 IEA 17.02.2009
-MIM:129500 ECTODERMAL DYSPLASIA 2, HIDROTIC MIM:604418 GJB6 HP:0000498 GO:0006954 PATO:0000912 IEA 17.02.2009
-MIM:129500 ECTODERMAL DYSPLASIA 2, HIDROTIC MIM:604418 GJB6 HP:0000509 IEA 17.02.2009
-MIM:129500 ECTODERMAL DYSPLASIA 2, HIDROTIC MIM:604418 GJB6 HP:0000518 IEA 17.02.2009
-MIM:129500 ECTODERMAL DYSPLASIA 2, HIDROTIC MIM:604418 GJB6 HP:0000535 FMA:71098 PATO:0001609 IEA 17.02.2009
-MIM:129500 ECTODERMAL DYSPLASIA 2, HIDROTIC MIM:604418 GJB6 HP:0000613 IEA 17.02.2009
-MIM:129500 ECTODERMAL DYSPLASIA 2, HIDROTIC MIM:604418 GJB6 HP:0000653 FMA:70742 PATO:0001609 IEA 17.02.2009
-MIM:129500 ECTODERMAL DYSPLASIA 2, HIDROTIC MIM:604418 GJB6 HP:0000953 GO:0043473 PATO:0000912 IEA 17.02.2009
-MIM:129500 ECTODERMAL DYSPLASIA 2, HIDROTIC MIM:604418 GJB6 HP:0000972 IEA 17.02.2009
-MIM:129500 ECTODERMAL DYSPLASIA 2, HIDROTIC MIM:604418 GJB6 HP:0001155 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:129500 ECTODERMAL DYSPLASIA 2, HIDROTIC MIM:604418 GJB6 HP:0001509 FMA:20394 PATO:0000569 IEA 17.02.2009
-MIM:129500 ECTODERMAL DYSPLASIA 2, HIDROTIC MIM:604418 GJB6 HP:0001760 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:129500 ECTODERMAL DYSPLASIA 2, HIDROTIC MIM:604418 GJB6 HP:0001792 FMA:54326 PATO:0000645 IEA 17.02.2009
-MIM:129500 ECTODERMAL DYSPLASIA 2, HIDROTIC MIM:604418 GJB6 HP:0001806 IEA 17.02.2009
-MIM:129500 ECTODERMAL DYSPLASIA 2, HIDROTIC MIM:604418 GJB6 HP:0002221 PATO:0001557 FMA:70756 IEA 17.02.2009
-MIM:129500 ECTODERMAL DYSPLASIA 2, HIDROTIC MIM:604418 GJB6 HP:0002555 PATO:0001557 FMA:54319 IEA 17.02.2009
-MIM:129500 ECTODERMAL DYSPLASIA 2, HIDROTIC MIM:604418 GJB6 HP:0004767 IEA 17.02.2009
-MIM:129500 ECTODERMAL DYSPLASIA 2, HIDROTIC MIM:604418 GJB6 HP:0008408 IEA 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
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0000164 Abnormality of the teeth IEA IEA 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0000486 Strabismus IEA IEA 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0000498 Blepharitis IEA IEA 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0000509 Conjunctivitis IEA IEA 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0000518 Cataract IEA IEA 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0000535 Sparse eyebrow IEA IEA 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0000613 Photophobia IEA IEA 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0000653 Sparse eyelashes IEA IEA 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0000953 Hyperpigmentation of the skin IEA IEA 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0000972 Palmoplantar hyperkeratosis IEA IEA 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0001155 Abnormality of the hand IEA IEA 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0004322 Short stature PCS PCS MIM:129500 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0001760 Abnormality of the feet IEA IEA 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0001792 Small nail IEA IEA 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0001806 Onycholysis IEA IEA 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0002221 Absent axillary hair PCS PCS MIM:129500 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0002555 Absent pubic hair PCS PCS MIM:129500 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0002213 Fine hair PCS PCS MIM:129500 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0002164 Nail dysplasia PCS PCS MIM:129500 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0002299 Brittle hair PCS PCS MIM:129500 01.03.2012
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0002217 Slow-growing hair PCS PCS MIM:129500 01.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-164200.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-164200.tab 2012-03-01 17:22:15 UTC (rev 4179)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-164200.tab 2012-03-01 18:27:38 UTC (rev 4180)
@@ -1,40 +1,41 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GJA1 HP:0000006 IEA 17.02.2009
-MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GJA1 HP:0000175 FMA:54549 PATO:0000403 IEA 17.02.2009
-MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GJA1 HP:0000187 IEA 17.02.2009
-MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GJA1 HP:0000204 FMA:59816 PATO:0000403 IEA 17.02.2009
-MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GJA1 HP:0000252 FMA:46565 PATO:0000587 IEA 17.02.2009
-MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GJA1 HP:0000256 FMA:46565 PATO:0000586 ITM 17.02.2009
-MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GJA1 HP:0000286 IEA 17.02.2009
-MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GJA1 HP:0000405 IEA 17.02.2009
-MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GJA1 HP:0000430 FMA:59502 PATO:0000645 IEA 17.02.2009
-MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GJA1 HP:0000446 IEA 17.02.2009
-MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GJA1 HP:0000482 FMA:58238 PATO:0000587 IEA 17.02.2009
-MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GJA1 HP:0000501 IEA 17.02.2009
-MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GJA1 HP:0000507 FMA:59110 PATO:0000574 IEA 17.02.2009
-MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GJA1 HP:0000518 IEA 17.02.2009
-MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GJA1 HP:0000670 IEA 17.02.2009
-MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GJA1 HP:0000679 ITM 17.02.2009
-MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GJA1 HP:0000691 IEA 17.02.2009
-MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GJA1 HP:0001159 FMA:85518 PATO:0000642 FMA:85518 ITM 17.02.2009
-MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GJA1 HP:0001249 IEA 17.02.2009
-MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GJA1 HP:0001251 GO:0050881 PATO:0000770 IEA 17.02.2009
-MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GJA1 HP:0001257 IEA 17.02.2009
-MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GJA1 HP:0001260 IEA 17.02.2009
-MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GJA1 HP:0001592 IEA 17.02.2009
-MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GJA1 HP:0002135 FMA:62514 PATO:0001447 IEA 17.02.2009
-MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GJA1 HP:0002273 IEA 17.02.2009
-MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GJA1 HP:0002385 IEA 17.02.2009
-MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GJA1 HP:0002500 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GJA1 HP:0002827 FMA:24964 PATO:0001852 IEA 17.02.2009
-MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GJA1 HP:0002967 IEA 17.02.2009
-MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GJA1 HP:0004220 FMA:23936 PATO:0000569 IEA 17.02.2009
-MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GJA1 HP:0004495 IEA 17.02.2009
-MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GJA1 HP:0004770 IEA 17.02.2009
-MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GJA1 HP:0006297 FMA:55629 PATO:0000587 IEA 17.02.2009
-MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GJA1 HP:0006480 IEA 17.02.2009
-MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GJA1 HP:0006801 IEA 17.02.2009
-MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GJA1 HP:0007475 ITM 17.02.2009
-MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GJA1 HP:0008442 IEA 17.02.2009
-MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GJA1 HP:0009183 FMA:24949 HP:0009472 IEA 17.02.2009
-MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GJA1 HP:0009779 IEA 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
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0000175 Cleft palate IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0000187 Broad alveolar ridges IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0000204 Cleft upper lip IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0000252 Microcephaly IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0000256 Macrocephaly ITM ITM 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0000286 Epicanthus IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0000405 Conductive hearing impairment IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0000430 Hypoplastic nasal alae IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0000446 Narrow nasal bridge IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0000482 Microcornea IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0000501 Glaucoma IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0000581 Blepharophimosis PCS PCS MIM:164200 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0000518 Cataract IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0000670 Carious teeth IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0000679 Taurodontia ITM ITM 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0000691 Microdontia IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0001159 Syndactyly ITM ITM 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0001249 Intellectual disability IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0001251 Ataxia IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0001257 Spasticity IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0001260 Dysarthria IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0001592 Selective tooth agenesis IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0002135 Basal ganglia calcification IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0002273 Tetraparesis IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0002385 Paraparesis IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0002500 Abnormality of the cerebral white matter IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0002827 Dislocated hips IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0002967 Cubitus valgus IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0004220 Hypoplastic/small middle phalanx of the 5th finger IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0004495 Thin anteverted nares IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0008070 Sparse hair PCS PCS MIM:164200 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0006297 Hypoplasia of dental enamel IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0006480 Premature loss of teeth IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0006801 Hyperactive deep tendon reflexes IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0007475 Congenital bullous ichthyosiform erythroderma ITM ITM 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0008442 Vertebral hyperostosis IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0009183 Joint contractures of the 5th finger IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0009779 3-4 toe syndactyly IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0002217 Slow-growing hair PCS PCS MIM:164200 01.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-190360.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-190360.tab 2012-03-01 17:22:15 UTC (rev 4179)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-190360.tab 2012-03-01 18:27:38 UTC (rev 4180)
@@ -1,9 +1,16 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:190360 TRICHODYSPLASIA-XERODERMA HP:0000006 IEA 17.02.2009
-MIM:190360 TRICHODYSPLASIA-XERODERMA HP:0000958 FMA:7163 PATO:0001824 IEA 17.02.2009
-MIM:190360 TRICHODYSPLASIA-XERODERMA HP:0001006 IEA 17.02.2009
-MIM:190360 TRICHODYSPLASIA-XERODERMA HP:0001596 IEA 17.02.2009
-MIM:190360 TRICHODYSPLASIA-XERODERMA HP:0001939 GO:0008152 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:190360 TRICHODYSPLASIA-XERODERMA HP:0002552 IEA 17.02.2009
-MIM:190360 TRICHODYSPLASIA-XERODERMA HP:0003777 IEA 17.02.2009
-MIM:190360 TRICHODYSPLASIA-XERODERMA HP:0007853 ITM 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
+MIM:190360 TRICHODYSPLASIA-XERODERMA HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:190360 TRICHODYSPLASIA-XERODERMA HP:0000958 Dry skin IEA IEA 17.02.2009
+MIM:190360 TRICHODYSPLASIA-XERODERMA HP:0001006 Hypotrichosis IEA IEA 17.02.2009
+MIM:190360 TRICHODYSPLASIA-XERODERMA HP:0001596 Alopecia IEA IEA 17.02.2009
+MIM:190360 TRICHODYSPLASIA-XERODERMA HP:0002552 Trichodysplasia IEA IEA 17.02.2009
+MIM:190360 TRICHODYSPLASIA-XERODERMA HP:0003777 Pili torti IEA IEA 17.02.2009
+MIM:190360 TRICHODYSPLASIA-XERODERMA HP:0000535 Sparse eyebrow PCS PCS MIM:190360 17.02.2009
+MIM:190360 TRICHODYSPLASIA-XERODERMA HP:0000653 Sparse eyelashes PCS PCS MIM:190360 01.03.2012
+MIM:190360 TRICHODYSPLASIA-XERODERMA HP:0002209 Sparse scalp hair PCS PCS MIM:190360 01.03.2012
+MIM:190360 TRICHODYSPLASIA-XERODERMA HP:0002299 Brittle hair PCS PCS MIM:190360 01.03.2012
+MIM:190360 TRICHODYSPLASIA-XERODERMA HP:0002217 Slow-growing hair PCS PCS MIM:190360 01.03.2012
+MIM:190360 TRICHODYSPLASIA-XERODERMA HP:0011359 Dry hair PCS PCS MIM:190360 01.03.2012
+MIM:190360 TRICHODYSPLASIA-XERODERMA HP:0002208 Coarse hair PCS PCS MIM:190360 01.03.2012
+MIM:190360 TRICHODYSPLASIA-XERODERMA HP:0002225 Sparse pubic hair PCS PCS MIM:190360 01.03.2012
+MIM:190360 TRICHODYSPLASIA-XERODERMA HP:0002215 Sparse axillary hair PCS PCS MIM:190360 01.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-234030.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-234030.tab 2012-03-01 17:22:15 UTC (rev 4179)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-234030.tab 2012-03-01 18:27:38 UTC (rev 4180)
@@ -2,9 +2,9 @@
MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0000992 Photosensitivity IEA IEA 17.02.2009
MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0002208 Coarse hair ITM ITM 17.02.2009
-MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0010719 Abnormality of hair texture PCS PCS MIM:234030 17.02.2009
+MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0002299 Brittle hair PCS PCS MIM:234030 17.02.2009
MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0003680 Nonprogressive disorder ITM ITM 17.02.2009
MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0000653 Sparse eyelashes PCS PCS MIM:234030 17.02.2009
-MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0007154 Nonprogressive intellectual disability IEA IEA 17.02.2009
+MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0001249 Intellectual disability IEA IEA 17.02.2009
MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0008070 Sparse hair PCS PCS MIM:234030 17.02.2009
MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0000535 Sparse eyebrow PCS PCS MIM:234030 20.02.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-601345.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-601345.tab 2012-03-01 17:22:15 UTC (rev 4179)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-601345.tab 2012-03-01 18:27:38 UTC (rev 4180)
@@ -1,16 +1,17 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0000006 IEA 17.02.2009
-MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0000535 FMA:71098 PATO:0001609 IEA 17.02.2009
-MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0000653 FMA:70742 PATO:0001609 IEA 17.02.2009
-MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0000668 IEA 17.02.2009
-MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0000677 IEA 17.02.2009
-MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0000695 ITM 17.02.2009
-MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0000968 FMA:69070 PATO:0000640 ITM 17.02.2009
-MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0001509 FMA:20394 PATO:0000569 IEA 17.02.2009
-MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0001597 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0004437 PATO:0000584 IEA 17.02.2009
-MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0004482 IEA 17.02.2009
-MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0004553 IEA 17.02.2009
-MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0007387 FMA:59152 PATO:0000645 IEA 17.02.2009
-MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0007498 IEA 17.02.2009
-MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0007515 FMA:70661 PATO:0000645 IEA 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
+MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0000535 Sparse eyebrow IEA IEA 17.02.2009
+MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0000653 Sparse eyelashes IEA IEA 17.02.2009
+MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0000668 Hypodontia IEA IEA 17.02.2009
+MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0000677 Oligodontia IEA IEA 17.02.2009
+MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0000695 Natal tooth ITM ITM 17.02.2009
+MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0000968 Ectodermal dysplasia ITM ITM 17.02.2009
+MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0004322 Short stature IEA IEA Mild 17.02.2009
+MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0001597 Abnormality of the nail IEA IEA 17.02.2009
+MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0004437 Cranial hyperostosis IEA IEA 17.02.2009
+MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0004482 Relative macrocephaly IEA IEA 17.02.2009
+MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0002209 Sparse scalp hair PCS PCS MIM:601345 17.02.2009
+MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0007387 Hypoplastic sweat glands IEA IEA 17.02.2009
+MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0007498 Flexural acanthosis nigricans IEA IEA 17.02.2009
+MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0007515 Hypoplastic pilosebaceous units IEA IEA 17.02.2009
+MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0100038 Slow-growing scalp hair PCS PCS MIM:601345 01.03.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-129500.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-129500.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-129500.tab 2012-03-01 18:27:38 UTC (rev 4180)
@@ -0,0 +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
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0000164 Abnormality of the teeth IEA IEA 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0000486 Strabismus IEA IEA 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0000498 Blepharitis IEA IEA 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0000509 Conjunctivitis IEA IEA 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0000518 Cataract IEA IEA 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0000535 Sparse eyebrow IEA IEA 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0000613 Photophobia IEA IEA 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0000653 Sparse eyelashes IEA IEA 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0000953 Hyperpigmentation of the skin IEA IEA 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0000972 Palmoplantar hyperkeratosis IEA IEA 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0001155 Abnormality of the hand IEA IEA 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0004322 Short stature PCS PCS MIM:129500 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0001760 Abnormality of the feet IEA IEA 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0001792 Small nail IEA IEA 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0001806 Onycholysis IEA IEA 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0002221 Absent axillary hair PCS PCS MIM:129500 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0002555 Absent pubic hair PCS PCS MIM:129500 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0002213 Fine hair PCS PCS MIM:129500 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0002164 Nail dysplasia PCS PCS MIM:129500 17.02.2009
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0002299 Brittle hair PCS PCS MIM:129500 01.03.2012
+MIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT MIM:604418 GAP JUNCTION PROTEIN, BETA-6 GJB6 HP:0002217 Slow-growing hair PCS PCS MIM:129500 01.03.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-164200.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-164200.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-164200.tab 2012-03-01 18:27:38 UTC (rev 4180)
@@ -0,0 +1,41 @@
+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:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0000175 Cleft palate IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0000187 Broad alveolar ridges IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0000204 Cleft upper lip IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0000252 Microcephaly IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0000256 Macrocephaly ITM ITM 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0000286 Epicanthus IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0000405 Conductive hearing impairment IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0000430 Hypoplastic nasal alae IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0000446 Narrow nasal bridge IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0000482 Microcornea IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0000501 Glaucoma IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0000581 Blepharophimosis PCS PCS MIM:164200 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0000518 Cataract IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0000670 Carious teeth IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0000679 Taurodontia ITM ITM 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0000691 Microdontia IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0001159 Syndactyly ITM ITM 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0001249 Intellectual disability IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0001251 Ataxia IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0001257 Spasticity IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0001260 Dysarthria IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0001592 Selective tooth agenesis IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0002135 Basal ganglia calcification IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0002273 Tetraparesis IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0002385 Paraparesis IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0002500 Abnormality of the cerebral white matter IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0002827 Dislocated hips IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0002967 Cubitus valgus IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0004220 Hypoplastic/small middle phalanx of the 5th finger IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0004495 Thin anteverted nares IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0008070 Sparse hair PCS PCS MIM:164200 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0006297 Hypoplasia of dental enamel IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0006480 Premature loss of teeth IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0006801 Hyperactive deep tendon reflexes IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0007475 Congenital bullous ichthyosiform erythroderma ITM ITM 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0008442 Vertebral hyperostosis IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0009183 Joint contractures of the 5th finger IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0009779 3-4 toe syndactyly IEA IEA 17.02.2009
+MIM:164200 OCULODENTODIGITAL DYSPLASIA MIM:121014 GAP JUNCTION PROTEIN, ALPHA-1 GJA1 HP:0002217 Slow-growing hair PCS PCS MIM:164200 01.03.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-190360.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-190360.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-190360.tab 2012-03-01 18:27:38 UTC (rev 4180)
@@ -0,0 +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
+MIM:190360 TRICHODYSPLASIA-XERODERMA HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:190360 TRICHODYSPLASIA-XERODERMA HP:0000958 Dry skin IEA IEA 17.02.2009
+MIM:190360 TRICHODYSPLASIA-XERODERMA HP:0001006 Hypotrichosis IEA IEA 17.02.2009
+MIM:190360 TRICHODYSPLASIA-XERODERMA HP:0001596 Alopecia IEA IEA 17.02.2009
+MIM:190360 TRICHODYSPLASIA-XERODERMA HP:0002552 Trichodysplasia IEA IEA 17.02.2009
+MIM:190360 TRICHODYSPLASIA-XERODERMA HP:0003777 Pili torti IEA IEA 17.02.2009
+MIM:190360 TRICHODYSPLASIA-XERODERMA HP:0000535 Sparse eyebrow PCS PCS MIM:190360 17.02.2009
+MIM:190360 TRICHODYSPLASIA-XERODERMA HP:0000653 Sparse eyelashes PCS PCS MIM:190360 01.03.2012
+MIM:190360 TRICHODYSPLASIA-XERODERMA HP:0002209 Sparse scalp hair PCS PCS MIM:190360 01.03.2012
+MIM:190360 TRICHODYSPLASIA-XERODERMA HP:0002299 Brittle hair PCS PCS MIM:190360 01.03.2012
+MIM:190360 TRICHODYSPLASIA-XERODERMA HP:0002217 Slow-growing hair PCS PCS MIM:190360 01.03.2012
+MIM:190360 TRICHODYSPLASIA-XERODERMA HP:0011359 Dry hair PCS PCS MIM:190360 01.03.2012
+MIM:190360 TRICHODYSPLASIA-XERODERMA HP:0002208 Coarse hair PCS PCS MIM:190360 01.03.2012
+MIM:190360 TRICHODYSPLASIA-XERODERMA HP:0002225 Sparse pubic hair PCS PCS MIM:190360 01.03.2012
+MIM:190360 TRICHODYSPLASIA-XERODERMA HP:0002215 Sparse axillary hair PCS PCS MIM:190360 01.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-234030.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-234030.tab 2012-03-01 17:22:15 UTC (rev 4179)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-234030.tab 2012-03-01 18:27:38 UTC (rev 4180)
@@ -2,9 +2,9 @@
MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0000992 Photosensitivity IEA IEA 17.02.2009
MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0002208 Coarse hair ITM ITM 17.02.2009
-MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0010719 Abnormality of hair texture PCS PCS MIM:234030 17.02.2009
+MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0002299 Brittle hair PCS PCS MIM:234030 17.02.2009
MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0003680 Nonprogressive disorder ITM ITM 17.02.2009
MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0000653 Sparse eyelashes PCS PCS MIM:234030 17.02.2009
-MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0007154 Nonprogressive intellectual disability IEA IEA 17.02.2009
+MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0001249 Intellectual disability IEA IEA 17.02.2009
MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0008070 Sparse hair PCS PCS MIM:234030 17.02.2009
MIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION HP:0000535 Sparse eyebrow PCS PCS MIM:234030 20.02.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-601345.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-601345.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-601345.tab 2012-03-01 18:27:38 UTC (rev 4180)
@@ -0,0 +1,17 @@
+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:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0000535 Sparse eyebrow IEA IEA 17.02.2009
+MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0000653 Sparse eyelashes IEA IEA 17.02.2009
+MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0000668 Hypodontia IEA IEA 17.02.2009
+MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0000677 Oligodontia IEA IEA 17.02.2009
+MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0000695 Natal tooth ITM ITM 17.02.2009
+MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0000968 Ectodermal dysplasia ITM ITM 17.02.2009
+MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0004322 Short stature IEA IEA Mild 17.02.2009
+MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0001597 Abnormality of the nail IEA IEA 17.02.2009
+MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0004437 Cranial hyperostosis IEA IEA 17.02.2009
+MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0004482 Relative macrocephaly IEA IEA 17.02.2009
+MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0002209 Sparse scalp hair PCS PCS MIM:601345 17.02.2009
+MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0007387 Hypoplastic sweat glands IEA IEA 17.02.2009
+MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0007498 Flexural acanthosis nigricans IEA IEA 17.02.2009
+MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0007515 Hypoplastic pilosebaceous units IEA IEA 17.02.2009
+MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0100038 Slow-growing scalp hair PCS PCS MIM:601345 01.03.2012
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <pr...@us...> - 2012-03-02 07:33:40
|
Revision: 4182
http://obo.svn.sourceforge.net/obo/?rev=4182&view=rev
Author: probins
Date: 2012-03-02 07:33:32 +0000 (Fri, 02 Mar 2012)
Log Message:
-----------
Rombo
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/MIM-115150.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-180730.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-182815.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-308800.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-180730.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-308800.tab
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-115150.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-182815.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-115150.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-115150.tab 2012-03-01 21:28:48 UTC (rev 4181)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-115150.tab 2012-03-02 07:33:32 UTC (rev 4182)
@@ -1,66 +1,66 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000006 ICE 09.10.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000126 FMA:15575 PATO:0001571 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000156 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000164 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000176 FMA:54549 HP:0000208 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000210 FMA:54396 PATO:0000587 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000238 FMA:50801 PATO:0001853 FMA:20935 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000254 FMA:63864 PATO:0000001 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000268 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000280 FMA:24728 PATO:0000700 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000286 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000305 FMA:59819 PATO:0001482 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000314 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000316 FMA:54450 PATO:0000374 FMA:54449 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000358 FMA:52780 PATO:0001922 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000365 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000425 FMA:52745 PATO:0000407 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000441 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000443 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000486 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000494 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000508 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000545 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000639 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000645 FMA:54448 PATO:0001644 FMA:24728 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000657 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000767 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000768 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000938 FMA:5018 PATO:0001790 IEA PATO:0001869 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000955 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000962 FMA:67545 PATO:0000591 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001048 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001093 FMA:50863 PATO:0000640 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001157 FMA:9666 PATO:0000140 IEA PATO:0000460 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001187 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001250 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001252 FMA:30316 PATO:0001619 IEA PATO:0001869 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001276 FMA:30316 PATO:0001618 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001420 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001508 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001547 FMA:7480 PATO:0000051 IEA PATO:0000460 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001561 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001622 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001631 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001639 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001642 FMA:8615 PATO:0000599 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001744 FMA:7196 PATO:0000586 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0002013 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0002019 GO:0030421 PATO:0000381 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0002020 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0002022 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0002120 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0002122 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0002217 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0002288 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0002424 FMA:61824 PATO:0000645 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0002750 GO:0070977 PATO:0000911 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0003501 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0003601 ICE 09.10.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0004482 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0005337 FMA:75035 HP:0000586 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0006114 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0007370 FMA:86464 PATO:0000587 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0007533 IEA 17.02.2009
-MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0008113 IEA 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
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000006 Autosomal dominant inheritance ICE ICE 09.10.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000126 Hydronephrosis IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000156 High-arched palate IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000164 Abnormality of the teeth IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000176 Submucous cleft palate IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000347 Micrognathia IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000238 Hydrocephalus IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0011220 Prominent forehead IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000268 Dolichocephaly IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000280 Coarse facial features IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000286 Epicanthus IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000305 Prominent philtrum IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000341 Narrow forehead IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000316 Hypertelorism IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000358 Posteriorly rotated ears IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000365 Hearing impairment IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000425 Flattened nasal bridge IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000441 Short, upturned nose IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000443 Bulbous nasal tip IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000486 Strabismus IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000494 Downslanted palpebral fissures IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000508 Ptosis IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000545 Myopia IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000639 Nystagmus IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000520 Proptosis IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000657 Oculomotor apraxia IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000767 Pectus excavatum IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000768 Pectus carinatum IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000938 Osteopenia IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0008064 Ichthyosiform abnormality of the skin IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000962 Hyperkeratosis IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001048 Cavernous hemangioma IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001093 Optic nerve dysplasia IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0004209 Clinodactyly of the 5th finger IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001187 Hyperextensibility of the finger joints IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001250 Seizures IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001252 Muscular hypotonia IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001276 Hypertonia IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001420 Isolated cases IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001508 Failure to thrive IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001561 Polyhydramnios IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001622 Premature birth IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001631 Atrial septal defect IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001639 Hypertrophic cardiomyopathy IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001642 Pulmonic stenosis IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001744 Splenomegaly IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0002013 Vomiting IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0002019 Constipation IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0002020 Gastroesophageal reflux IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0002022 Feeding difficulties IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0002120 Cerebral cortical atrophy IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001249 Intellectual disability IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0002217 Slow-growing hair IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0002223 Absent eyebrow IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0007333 Hypoplasia of the frontal lobes IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0002750 Delayed skeletal maturation IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0004322 Short stature IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0003660 Onset in utero ICE ICE 09.10.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0004482 Relative macrocephaly IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0009891 Hypoplasia of the supraorbital ridges IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0006114 Multiple palmar creases IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0007370 Aplasia/Hypoplasia of the corpus callosum IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0007533 Severe atopic dermatitis IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0008113 Multiple plantar creases IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000561 Absent eyelashes IEA IEA 02.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-180730.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-180730.tab 2012-03-01 21:28:48 UTC (rev 4181)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-180730.tab 2012-03-02 07:33:32 UTC (rev 4182)
@@ -2,6 +2,5 @@
MIM:180730 ROMBO SYNDROME HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
MIM:180730 ROMBO SYNDROME HP:0000534 Abnormality of the eyebrow PCS PCS MIM:180730 17.02.2009
MIM:180730 ROMBO SYNDROME HP:0002671 Basal cell carcinoma PCS PCS MIM:180730 17.02.2009
-MIM:180730 ROMBO SYNDROME HP:0004516 absent/abnormal eyelashes and eyebrows IEA IEA 17.02.2009
MIM:180730 ROMBO SYNDROME HP:0007380 Facial telangiectatic vessels IEA IEA 17.02.2009
MIM:180730 ROMBO SYNDROME HP:0000499 Abnormality of the eyelashes PCS PCS MIM:180730 21.02.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-182815.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-182815.tab 2012-03-01 21:28:48 UTC (rev 4181)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-182815.tab 2012-03-02 07:33:32 UTC (rev 4182)
@@ -1,9 +1,10 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0000006 IEA 17.02.2009
-MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0001029 IEA 17.02.2009
-MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0001258 IEA 17.02.2009
-MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0001939 GO:0008152 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0003693 _:distal_muscle PATO:0001623 IEA 17.02.2009
-MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0004539 IEA 17.02.2009
-MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0007108 IEA 17.02.2009
-MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0008276 IEA 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
+MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0001029 Poikiloderma IEA IEA 17.02.2009
+MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0001258 Spastic paraplegia IEA IEA 17.02.2009
+MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0007043 Peripheral sensory and motor neuropathy IEA IEA 17.02.2009
+MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0003693 Distal amyotrophy IEA IEA 17.02.2009
+MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0002223 Absent eyebrow IEA IEA 17.02.2009
+MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0007108 Demyelinating peripheral neuropathy IEA IEA 17.02.2009
+MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0003383 Onion bulb formation IEA IEA 17.02.2009
+MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0000561 Absent eyelashes IEA IEA 02.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-308800.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-308800.tab 2012-03-01 21:28:48 UTC (rev 4181)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-308800.tab 2012-03-02 07:33:32 UTC (rev 4182)
@@ -1,10 +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
MIM:308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED MIM:313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1 SAT1 HP:0000498 Blepharitis IEA IEA 17.02.2009
MIM:308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED MIM:313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1 SAT1 HP:0000656 Ectropion IEA IEA 17.02.2009
-MIM:308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED MIM:313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1 SAT1 HP:0000951 Abnormality of the skin IEA IEA 17.02.2009
+MIM:308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED MIM:313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1 SAT1 HP:0000958 Dry skin IEA IEA 17.02.2009
MIM:308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED MIM:313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1 SAT1 HP:0001417 X-linked inheritance IEA IEA 17.02.2009
MIM:308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED MIM:313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1 SAT1 HP:0001597 Abnormality of the nail IEA IEA 17.02.2009
MIM:308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED MIM:313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1 SAT1 HP:0000535 Sparse eyebrow PCS PCS MIM:308800 17.02.2009
-MIM:308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED MIM:313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1 SAT1 HP:0007705 Corneal degeneration IEA IEA 17.02.2009
+MIM:308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED MIM:313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1 SAT1 HP:0001131 Corneal dystrophy IEA IEA 17.02.2009
MIM:308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED MIM:313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1 SAT1 HP:0000653 Sparse eyelashes PCS PCS MIM:308800 01.03.2012
-MIM:308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED MIM:313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1 SAT1 HP:0004552 scarring alopecia of scalp PCS PCS MIM:308800 01.03.2012
+MIM:308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED MIM:313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1 SAT1 HP:0004552 Scarring alopecia of scalp PCS PCS MIM:308800 01.03.2012
+MIM:308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED MIM:313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1 SAT1 HP:0000613 Photophobia PCS PCS MIM:308800 02.03.2012
+MIM:308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED MIM:313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1 SAT1 HP:0000509 Conjunctivitis PCS PCS MIM:308800 02.03.2012
+MIM:308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED MIM:313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1 SAT1 HP:0000491 Keratitis PCS PCS MIM:308800 02.03.2012
+MIM:308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED MIM:313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1 SAT1 HP:0007502 Follicular hyperkeratosis PCS PCS MIM:308800 02.03.2012
+MIM:308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED MIM:313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1 SAT1 HP:0000982 Palmoplantar keratoderma PCS PCS MIM:308800 02.03.2012
+MIM:308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED MIM:313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1 SAT1 HP:0008391 Dystrophic fingernails PCS PCS MIM:308800 02.03.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-115150.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-115150.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-115150.tab 2012-03-02 07:33:32 UTC (rev 4182)
@@ -0,0 +1,66 @@
+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:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000006 Autosomal dominant inheritance ICE ICE 09.10.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000126 Hydronephrosis IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000156 High-arched palate IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000164 Abnormality of the teeth IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000176 Submucous cleft palate IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000347 Micrognathia IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000238 Hydrocephalus IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0011220 Prominent forehead IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000268 Dolichocephaly IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000280 Coarse facial features IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000286 Epicanthus IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000305 Prominent philtrum IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000341 Narrow forehead IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000316 Hypertelorism IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000358 Posteriorly rotated ears IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000365 Hearing impairment IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000425 Flattened nasal bridge IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000441 Short, upturned nose IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000443 Bulbous nasal tip IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000486 Strabismus IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000494 Downslanted palpebral fissures IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000508 Ptosis IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000545 Myopia IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000639 Nystagmus IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000520 Proptosis IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000657 Oculomotor apraxia IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000767 Pectus excavatum IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000768 Pectus carinatum IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000938 Osteopenia IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0008064 Ichthyosiform abnormality of the skin IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000962 Hyperkeratosis IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001048 Cavernous hemangioma IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001093 Optic nerve dysplasia IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0004209 Clinodactyly of the 5th finger IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001187 Hyperextensibility of the finger joints IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001250 Seizures IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001252 Muscular hypotonia IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001276 Hypertonia IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001420 Isolated cases IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001508 Failure to thrive IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001561 Polyhydramnios IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001622 Premature birth IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001631 Atrial septal defect IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001639 Hypertrophic cardiomyopathy IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001642 Pulmonic stenosis IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001744 Splenomegaly IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0002013 Vomiting IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0002019 Constipation IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0002020 Gastroesophageal reflux IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0002022 Feeding difficulties IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0002120 Cerebral cortical atrophy IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0001249 Intellectual disability IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0002217 Slow-growing hair IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0002223 Absent eyebrow IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0007333 Hypoplasia of the frontal lobes IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0002750 Delayed skeletal maturation IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0004322 Short stature IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0003660 Onset in utero ICE ICE 09.10.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0004482 Relative macrocephaly IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0009891 Hypoplasia of the supraorbital ridges IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0006114 Multiple palmar creases IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0007370 Aplasia/Hypoplasia of the corpus callosum IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0007533 Severe atopic dermatitis IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0008113 Multiple plantar creases IEA IEA 17.02.2009
+MIM:115150 CARDIOFACIOCUTANEOUS SYNDROME BRAF, KRAS, MAP2K1, MAP2K2 HP:0000561 Absent eyelashes IEA IEA 02.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-180730.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-180730.tab 2012-03-01 21:28:48 UTC (rev 4181)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-180730.tab 2012-03-02 07:33:32 UTC (rev 4182)
@@ -2,6 +2,5 @@
MIM:180730 ROMBO SYNDROME HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
MIM:180730 ROMBO SYNDROME HP:0000534 Abnormality of the eyebrow PCS PCS MIM:180730 17.02.2009
MIM:180730 ROMBO SYNDROME HP:0002671 Basal cell carcinoma PCS PCS MIM:180730 17.02.2009
-MIM:180730 ROMBO SYNDROME HP:0004516 absent/abnormal eyelashes and eyebrows IEA IEA 17.02.2009
MIM:180730 ROMBO SYNDROME HP:0007380 Facial telangiectatic vessels IEA IEA 17.02.2009
MIM:180730 ROMBO SYNDROME HP:0000499 Abnormality of the eyelashes PCS PCS MIM:180730 21.02.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-182815.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-182815.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-182815.tab 2012-03-02 07:33:32 UTC (rev 4182)
@@ -0,0 +1,10 @@
+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:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0001029 Poikiloderma IEA IEA 17.02.2009
+MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0001258 Spastic paraplegia IEA IEA 17.02.2009
+MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0007043 Peripheral sensory and motor neuropathy IEA IEA 17.02.2009
+MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0003693 Distal amyotrophy IEA IEA 17.02.2009
+MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0002223 Absent eyebrow IEA IEA 17.02.2009
+MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0007108 Demyelinating peripheral neuropathy IEA IEA 17.02.2009
+MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0003383 Onion bulb formation IEA IEA 17.02.2009
+MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0000561 Absent eyelashes IEA IEA 02.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-308800.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-308800.tab 2012-03-01 21:28:48 UTC (rev 4181)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-308800.tab 2012-03-02 07:33:32 UTC (rev 4182)
@@ -1,10 +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
MIM:308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED MIM:313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1 SAT1 HP:0000498 Blepharitis IEA IEA 17.02.2009
MIM:308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED MIM:313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1 SAT1 HP:0000656 Ectropion IEA IEA 17.02.2009
-MIM:308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED MIM:313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1 SAT1 HP:0000951 Abnormality of the skin IEA IEA 17.02.2009
+MIM:308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED MIM:313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1 SAT1 HP:0000958 Dry skin IEA IEA 17.02.2009
MIM:308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED MIM:313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1 SAT1 HP:0001417 X-linked inheritance IEA IEA 17.02.2009
MIM:308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED MIM:313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1 SAT1 HP:0001597 Abnormality of the nail IEA IEA 17.02.2009
MIM:308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED MIM:313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1 SAT1 HP:0000535 Sparse eyebrow PCS PCS MIM:308800 17.02.2009
-MIM:308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED MIM:313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1 SAT1 HP:0007705 Corneal degeneration IEA IEA 17.02.2009
+MIM:308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED MIM:313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1 SAT1 HP:0001131 Corneal dystrophy IEA IEA 17.02.2009
MIM:308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED MIM:313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1 SAT1 HP:0000653 Sparse eyelashes PCS PCS MIM:308800 01.03.2012
-MIM:308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED MIM:313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1 SAT1 HP:0004552 scarring alopecia of scalp PCS PCS MIM:308800 01.03.2012
+MIM:308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED MIM:313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1 SAT1 HP:0004552 Scarring alopecia of scalp PCS PCS MIM:308800 01.03.2012
+MIM:308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED MIM:313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1 SAT1 HP:0000613 Photophobia PCS PCS MIM:308800 02.03.2012
+MIM:308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED MIM:313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1 SAT1 HP:0000509 Conjunctivitis PCS PCS MIM:308800 02.03.2012
+MIM:308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED MIM:313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1 SAT1 HP:0000491 Keratitis PCS PCS MIM:308800 02.03.2012
+MIM:308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED MIM:313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1 SAT1 HP:0007502 Follicular hyperkeratosis PCS PCS MIM:308800 02.03.2012
+MIM:308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED MIM:313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1 SAT1 HP:0000982 Palmoplantar keratoderma PCS PCS MIM:308800 02.03.2012
+MIM:308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED MIM:313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1 SAT1 HP:0008391 Dystrophic fingernails PCS PCS MIM:308800 02.03.2012
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <pr...@us...> - 2012-03-03 10:48:29
|
Revision: 4184
http://obo.svn.sourceforge.net/obo/?rev=4184&view=rev
Author: probins
Date: 2012-03-03 10:48:21 +0000 (Sat, 03 Mar 2012)
Log Message:
-----------
More corrected annotation files
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/MIM-113477.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-124480.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-220219.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-601110.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-601319.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-601375.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-601952.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-601375.tab
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-113477.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-124480.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-220219.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-601110.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-601319.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-601952.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-113477.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-113477.tab 2012-03-02 20:51:47 UTC (rev 4183)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-113477.tab 2012-03-03 10:48:21 UTC (rev 4184)
@@ -1,13 +1,13 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0000006 IEA 17.02.2009
-MIM:113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0000181 IEA 17.02.2009
-MIM:113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0000252 FMA:46565 PATO:0000587 IEA 17.02.2009
-MIM:113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0000307 FMA:46495 PATO:0000944 IEA 17.02.2009
-MIM:113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0000445 FMA:46472 PATO:0000600 IEA 17.02.2009
-MIM:113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0001999 IEA 17.02.2009
-MIM:113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0004218 FMA:35489 HP:0001159 ITM 17.02.2009
-MIM:113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0004220 FMA:23936 PATO:0000569 IEA 17.02.2009
-MIM:113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0004227 FMA:23949 PATO:0000645 IEA 17.02.2009
-MIM:113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0006545 IEA 17.02.2009
-MIM:113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0008387 IEA 17.02.2009
-MIM:113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0008913 IEA 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
+MIM:113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0000154 Wide mouth IEA IEA 17.02.2009
+MIM:113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0000252 Microcephaly IEA IEA 17.02.2009
+MIM:113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0000307 Pointed chin IEA IEA 17.02.2009
+MIM:113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0000445 Broad nose IEA IEA 17.02.2009
+MIM:113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0001999 Abnormal facial shape IEA IEA 17.02.2009
+MIM:113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0004220 Hypoplastic/small middle phalanx of the 5th finger IEA IEA 17.02.2009
+MIM:113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0004227 Hypoplastic/small distal phalanx of the 5th finger IEA IEA 17.02.2009
+MIM:113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0006545 Cystic adenomatoid lung disease IEA IEA 17.02.2009
+MIM:113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0002164 Nail dysplasia PCS PCS MIM:113477 probinson 17.02.2009
+MIM:113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0004322 Short stature IEA IEA 17.02.2009
+MIM:113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0001798 Anonychia PCS PCS MIM:113477 probinson 03.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-124480.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-124480.tab 2012-03-02 20:51:47 UTC (rev 4183)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-124480.tab 2012-03-03 10:48:21 UTC (rev 4184)
@@ -1,13 +1,14 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0000006 IEA 17.02.2009
-MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0000404 GO:0007605 PATO:0000462 ITM 17.02.2009
-MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0001159 FMA:85518 PATO:0000642 FMA:85518 ITM 17.02.2009
-MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0001592 IEA 17.02.2009
-MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0001770 FMA:25046 HP:0001159 IEA 17.02.2009
-MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0001813 FMA:54326 PATO:0000587 ITM 17.02.2009
-MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0001939 GO:0008152 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0007529 IEA 17.02.2009
-MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0008394 ITM 17.02.2009
-MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0008397 IEA 17.02.2009
-MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0008513 ITM 17.02.2009
-MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0008530 ITM 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
+MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0000404 Deafness ITM ITM 17.02.2009
+MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0001159 Syndactyly ITM ITM 17.02.2009
+MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0001592 Selective tooth agenesis IEA IEA 17.02.2009
+MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0001770 Toe syndactyly IEA IEA 17.02.2009
+MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0001792 Small nail ITM ITM 17.02.2009
+MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0001939 Abnormality of metabolism/homeostasis IEA IEA 17.02.2009
+MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0007529 Hidrotic ectodermal dysplasia IEA IEA 17.02.2009
+MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0008394 Congenital onychodystrophy ITM ITM 17.02.2009
+MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0008513 Bilateral conductive deafness ITM ITM 17.02.2009
+MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0008530 Bilateral sensorineural deafness ITM ITM 17.02.2009
+MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0001792 Small nail PCS PCS MIM:124480 probinson 03.03.2012
+MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0008404 Nail dystrophy, variable PCS PCS MIM:124480 probinson 03.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-220219.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-220219.tab 2012-03-02 20:51:47 UTC (rev 4183)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-220219.tab 2012-03-03 10:48:21 UTC (rev 4184)
@@ -1,16 +1,16 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA,AND BRACHYTELEPHALANGY HP:0000007 IEA 17.02.2009
-MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA,AND BRACHYTELEPHALANGY HP:0000238 FMA:50801 PATO:0001853 FMA:20935 IEA 17.02.2009
-MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA,AND BRACHYTELEPHALANGY HP:0000256 FMA:46565 PATO:0000586 IEA 17.02.2009
-MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA,AND BRACHYTELEPHALANGY HP:0000639 IEA 17.02.2009
-MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA,AND BRACHYTELEPHALANGY HP:0000930 IEA 17.02.2009
-MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA,AND BRACHYTELEPHALANGY HP:0000931 IEA 17.02.2009
-MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA,AND BRACHYTELEPHALANGY HP:0000933 IEA 17.02.2009
-MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA,AND BRACHYTELEPHALANGY HP:0001305 ITM 17.02.2009
-MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA,AND BRACHYTELEPHALANGY HP:0001313 ITM 17.02.2009
-MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA,AND BRACHYTELEPHALANGY HP:0002078 IEA 17.02.2009
-MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA,AND BRACHYTELEPHALANGY HP:0002198 FMA:78469 PATO:0000586 IEA 17.02.2009
-MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA,AND BRACHYTELEPHALANGY HP:0002951 IEA 17.02.2009
-MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA,AND BRACHYTELEPHALANGY HP:0006824 FMA:5865 PATO:0000763 IEA 17.02.2009
-MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA,AND BRACHYTELEPHALANGY HP:0006887 IEA 17.02.2009
-MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA,AND BRACHYTELEPHALANGY HP:0008406 IEA 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
+MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, HP:0000238 Hydrocephalus IEA IEA 17.02.2009
+MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, HP:0000256 Macrocephaly IEA IEA 17.02.2009
+MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, HP:0000639 Nystagmus IEA IEA 17.02.2009
+MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, HP:0000930 Elevated imprint of the transverse sinuses IEA IEA 17.02.2009
+MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, HP:0000931 Thinning and bulging of the posterior fossa bones IEA IEA 17.02.2009
+MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, HP:0000933 Posterior fossa cyst at the fourth ventricle IEA IEA 17.02.2009
+MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, HP:0001305 Dandy-Walker malformation PCS PCS MIM:220219 probinson 17.02.2009
+MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, HP:0002078 Truncal ataxia IEA IEA 17.02.2009
+MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, HP:0002198 Enlarged fourth ventricle IEA IEA 17.02.2009
+MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, HP:0002951 Partial or complete absence of cerebellar vermis IEA IEA 17.02.2009
+MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, HP:0006824 Cranial nerve paralysis IEA IEA 17.02.2009
+MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, HP:0006887 Intellectual disability, progressive IEA IEA 17.02.2009
+MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, HP:0001799 Short nail PCS PCS MIM:220219 probinson 17.02.2009
+MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, HP:0001821 Broad nail PCS PCS MIM:220219 probinson 03.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-601110.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-601110.tab 2012-03-02 20:51:47 UTC (rev 4183)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-601110.tab 2012-03-03 10:48:21 UTC (rev 4184)
@@ -1,34 +1,36 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID MIM:608750 ALG3 HP:0000007 IEA 17.02.2009
-MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID MIM:608750 ALG3 HP:0000156 IEA 17.02.2009
-MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID MIM:608750 ALG3 HP:0000193 FMA:55022 PATO:0000403 IEA 17.02.2009
-MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID MIM:608750 ALG3 HP:0000252 FMA:46565 PATO:0000587 IEA 17.02.2009
-MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID MIM:608750 ALG3 HP:0000286 IEA 17.02.2009
-MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID MIM:608750 ALG3 HP:0000400 FMA:52781 PATO:0000586 IEA 17.02.2009
-MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID MIM:608750 ALG3 HP:0000414 FMA:59518 PATO:0000586 IEA 17.02.2009
-MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID MIM:608750 ALG3 HP:0000439 IEA 17.02.2009
-MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID MIM:608750 ALG3 HP:0000486 IEA 17.02.2009
-MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID MIM:608750 ALG3 HP:0000612 FMA:58235 HP:0000589 IEA 17.02.2009
-MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID MIM:608750 ALG3 HP:0000648 FMA:50863 PATO:0001623 IEA 17.02.2009
-MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID MIM:608750 ALG3 HP:0000654 IEA 17.02.2009
-MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID MIM:608750 ALG3 HP:0001141 IEA 17.02.2009
-MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID MIM:608750 ALG3 HP:0001157 FMA:9666 PATO:0000140 IEA PATO:0000460 17.02.2009
-MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID MIM:608750 ALG3 HP:0001181 IEA 17.02.2009
-MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID MIM:608750 ALG3 HP:0001250 IEA 17.02.2009
-MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID MIM:608750 ALG3 HP:0001255 IEA 17.02.2009
-MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID MIM:608750 ALG3 HP:0001272 IEA 17.02.2009
-MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID MIM:608750 ALG3 HP:0001276 FMA:30316 PATO:0001618 IEA 17.02.2009
-MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID MIM:608750 ALG3 HP:0001347 IEA 17.02.2009
-MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID MIM:608750 ALG3 HP:0001371 FMA:9721 PATO:0000574 IEA 17.02.2009
-MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID MIM:608750 ALG3 HP:0001508 IEA 17.02.2009
-MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID MIM:608750 ALG3 HP:0001762 IEA 17.02.2009
-MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID MIM:608750 ALG3 HP:0002013 IEA 17.02.2009
-MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID MIM:608750 ALG3 HP:0002014 FMA:64183 PATO:0001548 IEA 17.02.2009
-MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID MIM:608750 ALG3 HP:0002059 IEA 17.02.2009
-MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID MIM:608750 ALG3 HP:0002521 IEA 17.02.2009
-MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID MIM:608750 ALG3 HP:0002804 IEA 17.02.2009
-MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID MIM:608750 ALG3 HP:0003642 ITM 17.02.2009
-MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID MIM:608750 ALG3 HP:0006010 ITM 17.02.2009
-MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID MIM:608750 ALG3 HP:0006096 FMA:9712 HP:0001371 IEA 17.02.2009
-MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID MIM:608750 ALG3 HP:0008412 IEA 17.02.2009
-MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID MIM:608750 ALG3 HP:0008936 PATO:0001619 IEA 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
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0000156 High-arched palate IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0000193 Bifid uvula IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0000252 Microcephaly IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0000286 Epicanthus IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0000400 Macrotia IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0000414 Bulbous nose IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0005280 Depressed nasal bridge PCS PCS MIM:601110 probinson 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0000486 Strabismus IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0000612 Iris coloboma IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0000648 Optic atrophy IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0000654 Decreased electroretinogram (ERG) amplitude IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0001141 Severe visual impairment IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0001864 Fifth toe clinodactyly IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0001181 Adducted thumb IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0001250 Seizures IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0001263 Global developmental delay IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0001272 Cerebellar atrophy IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0001276 Hypertonia IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0001347 Hyperreflexia IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0001371 Contractures IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0001508 Failure to thrive IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0001762 Talipes equinovarus IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0002013 Vomiting IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0002014 Diarrhea IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0002059 Cerebral atrophy IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0002521 Hypsarrhythmia IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0002804 Arthrogryposis multiplex congenita IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0003642 Abnormal isoelectric focusing of serum transferrin (type 1 pattern) ITM ITM 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0100807 Long fingers PCS PCS MIM:601110 probinson 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0009473 Joint contractures involving the joints of the hand IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0002164 Nail dysplasia PCS PCS MIM:601110 probinson 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0008936 Muscular hypotonia of the trunk IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0000431 Broad nasal bridge PCS PCS MIM:601110 probinson 03.03.2012
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0001792 Small nail PCS PCS MIM:601110 probinson 03.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-601319.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-601319.tab 2012-03-02 20:51:47 UTC (rev 4183)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-601319.tab 2012-03-03 10:48:21 UTC (rev 4184)
@@ -1,4 +1,6 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:601319 ODONTOMICRONYCHIAL DYSPLASIA HP:0000007 IEA 17.02.2009
-MIM:601319 ODONTOMICRONYCHIAL DYSPLASIA HP:0006337 IEA 17.02.2009
-MIM:601319 ODONTOMICRONYCHIAL DYSPLASIA HP:0008411 IEA 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
+MIM:601319 ODONTOMICRONYCHIAL DYSPLASIA HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:601319 ODONTOMICRONYCHIAL DYSPLASIA HP:0006337 Premature eruption of permanent teeth IEA IEA 17.02.2009
+MIM:601319 ODONTOMICRONYCHIAL DYSPLASIA HP:0008383 Slow-growing nails PCS PCS MIM:601319 probinson 17.02.2009
+MIM:601319 ODONTOMICRONYCHIAL DYSPLASIA HP:0001816 Thin nail PCS PCS MIM:601319 probinson 03.03.2012
+MIM:601319 ODONTOMICRONYCHIAL DYSPLASIA HP:0001799 Short nail PCS PCS MIM:601319 probinson 03.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-601375.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-601375.tab 2012-03-02 20:51:47 UTC (rev 4183)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-601375.tab 2012-03-03 10:48:21 UTC (rev 4184)
@@ -2,10 +2,12 @@
MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0001662 Bradycardia IEA IEA 17.02.2009
MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0002223 Absent eyebrow IEA IEA 17.02.2009
-MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0002215 Sparse axillary hair PCS PCS MIM:601375 17.02.2009
+MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0002215 Sparse axillary hair PCS PCS MIM:601375 probinson 17.02.2009
MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0004765 Episodic supraventricular tachycardia IEA IEA 17.02.2009
-MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0002209 Sparse scalp hair PCS PCS MIM:601375 17.02.2009
+MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0002209 Sparse scalp hair PCS PCS MIM:601375 probinson 17.02.2009
MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0000653 Sparse eyelashes IEA IEA 17.02.2009
MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0008382 Dystrophic thickened nails IEA IEA 17.02.2009
-MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0002225 Sparse pubic hair PCS PCS MIM:601375 20.02.2012
-MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0002286 Fair hair PCS PCS MIM:601375 01.03.2012
+MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0002225 Sparse pubic hair PCS PCS MIM:601375 probinson 20.02.2012
+MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0002286 Fair hair PCS PCS MIM:601375 probinson 01.03.2012
+MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0010764 Short eyelashes PCS PCS MIM:601375 probinson 03.03.2012
+MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0000653 Sparse eyelashes PCS PCS MIM:601375 03.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-601952.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-601952.tab 2012-03-02 20:51:47 UTC (rev 4183)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-601952.tab 2012-03-03 10:48:21 UTC (rev 4184)
@@ -1,11 +1,11 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA HP:0000007 IEA 17.02.2009
-MIM:601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA HP:0000955 ITM 17.02.2009
-MIM:601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA HP:0001036 IEA 17.02.2009
-MIM:601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA HP:0001479 IEA 17.02.2009
-MIM:601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA HP:0007465 IEA 17.02.2009
-MIM:601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA HP:0007484 ITM 17.02.2009
-MIM:601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA HP:0007490 IEA 17.02.2009
-MIM:601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA HP:0007619 IEA 17.02.2009
-MIM:601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA HP:0008413 IEA 17.02.2009
-MIM:601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA HP:0009775 IEA 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
+MIM:601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA HP:0008064 Ichthyosiform abnormality of the skin PCS PCS MIM:601952 probinson 17.02.2009
+MIM:601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA HP:0001036 Parakeratosis IEA IEA 17.02.2009
+MIM:601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA HP:0001479 Electron microscopic abnormality of the skin IEA IEA 17.02.2009
+MIM:601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA HP:0007465 Honeycomb palmoplantar keratoderma IEA IEA 17.02.2009
+MIM:601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA HP:0007490 Linear arrays of macular hyperkeratoses in flexural areas IEA IEA 17.02.2009
+MIM:601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA HP:0008413 Nail dystrophy with overcurvature IEA IEA 17.02.2009
+MIM:601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA HP:0009775 Amniotic constriction ring IEA IEA 17.02.2009
+MIM:601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA HP:0001795 Hyperconvex nail PCS PCS MIM:601952 probinson 03.03.2012
+MIM:601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA HP:0008404 Nail dystrophy, variable PCS PCS MIM:601952 probinson 03.03.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-113477.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-113477.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-113477.tab 2012-03-03 10:48:21 UTC (rev 4184)
@@ -0,0 +1,13 @@
+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:113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0000154 Wide mouth IEA IEA 17.02.2009
+MIM:113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0000252 Microcephaly IEA IEA 17.02.2009
+MIM:113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0000307 Pointed chin IEA IEA 17.02.2009
+MIM:113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0000445 Broad nose IEA IEA 17.02.2009
+MIM:113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0001999 Abnormal facial shape IEA IEA 17.02.2009
+MIM:113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0004220 Hypoplastic/small middle phalanx of the 5th finger IEA IEA 17.02.2009
+MIM:113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0004227 Hypoplastic/small distal phalanx of the 5th finger IEA IEA 17.02.2009
+MIM:113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0006545 Cystic adenomatoid lung disease IEA IEA 17.02.2009
+MIM:113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0002164 Nail dysplasia PCS PCS MIM:113477 probinson 17.02.2009
+MIM:113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0004322 Short stature IEA IEA 17.02.2009
+MIM:113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0001798 Anonychia PCS PCS MIM:113477 probinson 03.03.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-124480.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-124480.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-124480.tab 2012-03-03 10:48:21 UTC (rev 4184)
@@ -0,0 +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
+MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0000404 Deafness ITM ITM 17.02.2009
+MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0001159 Syndactyly ITM ITM 17.02.2009
+MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0001592 Selective tooth agenesis IEA IEA 17.02.2009
+MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0001770 Toe syndactyly IEA IEA 17.02.2009
+MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0001792 Small nail ITM ITM 17.02.2009
+MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0001939 Abnormality of metabolism/homeostasis IEA IEA 17.02.2009
+MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0007529 Hidrotic ectodermal dysplasia IEA IEA 17.02.2009
+MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0008394 Congenital onychodystrophy ITM ITM 17.02.2009
+MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0008513 Bilateral conductive deafness ITM ITM 17.02.2009
+MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0008530 Bilateral sensorineural deafness ITM ITM 17.02.2009
+MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0001792 Small nail PCS PCS MIM:124480 probinson 03.03.2012
+MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0008404 Nail dystrophy, variable PCS PCS MIM:124480 probinson 03.03.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-220219.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-220219.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-220219.tab 2012-03-03 10:48:21 UTC (rev 4184)
@@ -0,0 +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
+MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, HP:0000238 Hydrocephalus IEA IEA 17.02.2009
+MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, HP:0000256 Macrocephaly IEA IEA 17.02.2009
+MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, HP:0000639 Nystagmus IEA IEA 17.02.2009
+MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, HP:0000930 Elevated imprint of the transverse sinuses IEA IEA 17.02.2009
+MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, HP:0000931 Thinning and bulging of the posterior fossa bones IEA IEA 17.02.2009
+MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, HP:0000933 Posterior fossa cyst at the fourth ventricle IEA IEA 17.02.2009
+MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, HP:0001305 Dandy-Walker malformation PCS PCS MIM:220219 probinson 17.02.2009
+MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, HP:0002078 Truncal ataxia IEA IEA 17.02.2009
+MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, HP:0002198 Enlarged fourth ventricle IEA IEA 17.02.2009
+MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, HP:0002951 Partial or complete absence of cerebellar vermis IEA IEA 17.02.2009
+MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, HP:0006824 Cranial nerve paralysis IEA IEA 17.02.2009
+MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, HP:0006887 Intellectual disability, progressive IEA IEA 17.02.2009
+MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, HP:0001799 Short nail PCS PCS MIM:220219 probinson 17.02.2009
+MIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, HP:0001821 Broad nail PCS PCS MIM:220219 probinson 03.03.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-601110.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-601110.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-601110.tab 2012-03-03 10:48:21 UTC (rev 4184)
@@ -0,0 +1,36 @@
+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:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0000156 High-arched palate IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0000193 Bifid uvula IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0000252 Microcephaly IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0000286 Epicanthus IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0000400 Macrotia IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0000414 Bulbous nose IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0005280 Depressed nasal bridge PCS PCS MIM:601110 probinson 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0000486 Strabismus IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0000612 Iris coloboma IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0000648 Optic atrophy IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0000654 Decreased electroretinogram (ERG) amplitude IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0001141 Severe visual impairment IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0001864 Fifth toe clinodactyly IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0001181 Adducted thumb IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0001250 Seizures IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0001263 Global developmental delay IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0001272 Cerebellar atrophy IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0001276 Hypertonia IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0001347 Hyperreflexia IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0001371 Contractures IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0001508 Failure to thrive IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0001762 Talipes equinovarus IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0002013 Vomiting IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0002014 Diarrhea IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0002059 Cerebral atrophy IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0002521 Hypsarrhythmia IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0002804 Arthrogryposis multiplex congenita IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0003642 Abnormal isoelectric focusing of serum transferrin (type 1 pattern) ITM ITM 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0100807 Long fingers PCS PCS MIM:601110 probinson 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0009473 Joint contractures involving the joints of the hand IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0002164 Nail dysplasia PCS PCS MIM:601110 probinson 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0008936 Muscular hypotonia of the trunk IEA IEA 17.02.2009
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0000431 Broad nasal bridge PCS PCS MIM:601110 probinson 03.03.2012
+MIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id MIM:608750 ALG3, S. CEREVISIAE, HOMOLOG OF ALG3 HP:0001792 Small nail PCS PCS MIM:601110 probinson 03.03.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-601319.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-601319.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-601319.tab 2012-03-03 10:48:21 UTC (rev 4184)
@@ -0,0 +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:601319 ODONTOMICRONYCHIAL DYSPLASIA HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:601319 ODONTOMICRONYCHIAL DYSPLASIA HP:0006337 Premature eruption of permanent teeth IEA IEA 17.02.2009
+MIM:601319 ODONTOMICRONYCHIAL DYSPLASIA HP:0008383 Slow-growing nails PCS PCS MIM:601319 probinson 17.02.2009
+MIM:601319 ODONTOMICRONYCHIAL DYSPLASIA HP:0001816 Thin nail PCS PCS MIM:601319 probinson 03.03.2012
+MIM:601319 ODONTOMICRONYCHIAL DYSPLASIA HP:0001799 Short nail PCS PCS MIM:601319 probinson 03.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-601375.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-601375.tab 2012-03-02 20:51:47 UTC (rev 4183)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-601375.tab 2012-03-03 10:48:21 UTC (rev 4184)
@@ -2,10 +2,12 @@
MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0001662 Bradycardia IEA IEA 17.02.2009
MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0002223 Absent eyebrow IEA IEA 17.02.2009
-MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0002215 Sparse axillary hair PCS PCS MIM:601375 17.02.2009
+MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0002215 Sparse axillary hair PCS PCS MIM:601375 probinson 17.02.2009
MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0004765 Episodic supraventricular tachycardia IEA IEA 17.02.2009
-MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0002209 Sparse scalp hair PCS PCS MIM:601375 17.02.2009
+MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0002209 Sparse scalp hair PCS PCS MIM:601375 probinson 17.02.2009
MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0000653 Sparse eyelashes IEA IEA 17.02.2009
MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0008382 Dystrophic thickened nails IEA IEA 17.02.2009
-MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0002225 Sparse pubic hair PCS PCS MIM:601375 20.02.2012
-MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0002286 Fair hair PCS PCS MIM:601375 01.03.2012
+MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0002225 Sparse pubic hair PCS PCS MIM:601375 probinson 20.02.2012
+MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0002286 Fair hair PCS PCS MIM:601375 probinson 01.03.2012
+MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0010764 Short eyelashes PCS PCS MIM:601375 probinson 03.03.2012
+MIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0000653 Sparse eyelashes PCS PCS MIM:601375 03.03.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-601952.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-601952.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-601952.tab 2012-03-03 10:48:21 UTC (rev 4184)
@@ -0,0 +1,11 @@
+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:601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA HP:0008064 Ichthyosiform abnormality of the skin PCS PCS MIM:601952 probinson 17.02.2009
+MIM:601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA HP:0001036 Parakeratosis IEA IEA 17.02.2009
+MIM:601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA HP:0001479 Electron microscopic abnormality of the skin IEA IEA 17.02.2009
+MIM:601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA HP:0007465 Honeycomb palmoplantar keratoderma IEA IEA 17.02.2009
+MIM:601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA HP:0007490 Linear arrays of macular hyperkeratoses in flexural areas IEA IEA 17.02.2009
+MIM:601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA HP:0008413 Nail dystrophy with overcurvature IEA IEA 17.02.2009
+MIM:601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA HP:0009775 Amniotic constriction ring IEA IEA 17.02.2009
+MIM:601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA HP:0001795 Hyperconvex nail PCS PCS MIM:601952 probinson 03.03.2012
+MIM:601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA HP:0008404 Nail dystrophy, variable PCS PCS MIM:601952 probinson 03.03.2012
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <pr...@us...> - 2012-03-03 16:36:25
|
Revision: 4185
http://obo.svn.sourceforge.net/obo/?rev=4185&view=rev
Author: probins
Date: 2012-03-03 16:36:18 +0000 (Sat, 03 Mar 2012)
Log Message:
-----------
New annotatiobn correction
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/MIM-301220.tab
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-301220.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-301220.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-301220.tab 2012-03-03 10:48:21 UTC (rev 4184)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-301220.tab 2012-03-03 16:36:18 UTC (rev 4185)
@@ -1,11 +1,13 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS HP:0000023 IEA 17.02.2009
-MIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS HP:0000515 FMA:58238 PATO:0000963 IEA 17.02.2009
-MIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS HP:0001250 IEA 17.02.2009
-MIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS HP:0001263 IEA 17.02.2009
-MIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS HP:0001417 IEA 17.02.2009
-MIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS HP:0001939 GO:0008152 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS HP:0002095 IEA 17.02.2009
-MIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS HP:0002301 IEA 17.02.2009
-MIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS HP:0007599 IEA 17.02.2009
-MIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS HP:0008925 IEA 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
+MIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS HP:0000023 Inguinal hernia IEA IEA 17.02.2009
+MIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS HP:0000515 Corneal opacity IEA IEA 17.02.2009
+MIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS HP:0001250 Seizures IEA IEA 17.02.2009
+MIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS HP:0001263 Global developmental delay IEA IEA 17.02.2009
+MIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS HP:0001417 X-linked inheritance IEA IEA 17.02.2009
+MIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS HP:0001939 Abnormality of metabolism/homeostasis IEA IEA 17.02.2009
+MIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS HP:0006532 Recurrent pneumonia PCS PCS MIM:301220 probinson 17.02.2009
+MIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS HP:0002301 Hemiplegia IEA IEA 17.02.2009
+MIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS HP:0007599 Generalized reticulate brown pigmentation in males IEA IEA MIM:301220 probinson 17.02.2009
+MIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS HP:0008925 Failure to thrive in male infants IEA IEA 17.02.2009
+MIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS HP:0004798 Recurrent infection of the gastrointestinal tract IEA IEA MIM:301220 probinson 03.03.2012
+MIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS HP:0000572 Visual loss IEA IEA MIM:301220 probinson 03.03.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-301220.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-301220.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-301220.tab 2012-03-03 16:36:18 UTC (rev 4185)
@@ -0,0 +1,13 @@
+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:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS HP:0000023 Inguinal hernia IEA IEA 17.02.2009
+MIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS HP:0000515 Corneal opacity IEA IEA 17.02.2009
+MIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS HP:0001250 Seizures IEA IEA 17.02.2009
+MIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS HP:0001263 Global developmental delay IEA IEA 17.02.2009
+MIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS HP:0001417 X-linked inheritance IEA IEA 17.02.2009
+MIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS HP:0001939 Abnormality of metabolism/homeostasis IEA IEA 17.02.2009
+MIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS HP:0006532 Recurrent pneumonia PCS PCS MIM:301220 probinson 17.02.2009
+MIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS HP:0002301 Hemiplegia IEA IEA 17.02.2009
+MIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS HP:0007599 Generalized reticulate brown pigmentation in males IEA IEA MIM:301220 probinson 17.02.2009
+MIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS HP:0008925 Failure to thrive in male infants IEA IEA 17.02.2009
+MIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS HP:0004798 Recurrent infection of the gastrointestinal tract IEA IEA MIM:301220 probinson 03.03.2012
+MIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS HP:0000572 Visual loss IEA IEA MIM:301220 probinson 03.03.2012
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <pr...@us...> - 2012-03-03 22:00:40
|
Revision: 4186
http://obo.svn.sourceforge.net/obo/?rev=4186&view=rev
Author: probins
Date: 2012-03-03 22:00:31 +0000 (Sat, 03 Mar 2012)
Log Message:
-----------
Corrected Xeroderma pigmentosum annotations
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/MIM-194400.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-216400.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-278700.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-278720.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-278730.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-278740.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-278750.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-278780.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-610651.tab
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-194400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-216400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-278700.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-278720.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-278730.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-278740.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-278750.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-278780.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-610651.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-194400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-194400.tab 2012-03-03 16:36:18 UTC (rev 4185)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-194400.tab 2012-03-03 22:00:31 UTC (rev 4186)
@@ -1,5 +1,5 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:194400 XERODERMA PIGMENTOSUM, AUTOSOMAL DOMINANT, MILD HP:0000953 GO:0043473 PATO:0000912 IEA 17.02.2009
-MIM:194400 XERODERMA PIGMENTOSUM, AUTOSOMAL DOMINANT, MILD HP:0001480 IEA 17.02.2009
-MIM:194400 XERODERMA PIGMENTOSUM, AUTOSOMAL DOMINANT, MILD HP:0001939 GO:0008152 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:194400 XERODERMA PIGMENTOSUM, AUTOSOMAL DOMINANT, MILD HP:0007415 IEA 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
+MIM:194400 XERODERMA PIGMENTOSUM, AUTOSOMAL DOMINANT, MILD HP:0000953 Hyperpigmentation of the skin IEA IEA 17.02.2009
+MIM:194400 XERODERMA PIGMENTOSUM, AUTOSOMAL DOMINANT, MILD HP:0001480 Freckling IEA IEA 17.02.2009
+MIM:194400 XERODERMA PIGMENTOSUM, AUTOSOMAL DOMINANT, MILD HP:0003079 Defective DNA repair after ultraviolet radiation damage IEA IEA 17.02.2009
+MIM:194400 XERODERMA PIGMENTOSUM, AUTOSOMAL DOMINANT, MILD HP:0008069 Neoplasm of the skin IEA IEA 17.02.2009
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-216400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-216400.tab 2012-03-03 16:36:18 UTC (rev 4185)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-216400.tab 2012-03-03 22:00:31 UTC (rev 4186)
@@ -1,69 +1,68 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0000007 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0000028 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0000054 FMA:9707 PATO:0000587 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0000083 FMA:7203 PATO:0001511 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0000093 FMA:12274 PATO:0002002 CHEBI:16541 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0000135 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0000252 FMA:46565 PATO:0000587 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0000292 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0000303 FMA:46495 PATO:0001482 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0000335 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0000374 FMA:65132 HP:0000404 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0000377 FMA:52781 PATO:0000051 IEA PATO:0000460 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0000417 FMA:59518 PATO:0000592 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0000486 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0000515 FMA:58238 PATO:0000963 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0000518 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0000540 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0000580 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0000633 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0000639 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0000648 FMA:50863 PATO:0001623 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0000670 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0000680 FMA:75151 HP:0000684 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0000684 PATO:0000502 ITM 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0000688 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0000689 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0000726 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0000762 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0000822 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0000858 ITM 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0000958 FMA:7163 PATO:0001824 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0000970 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0000987 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0000992 FMA:54448 PATO:0000927 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0001000 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0001124 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0001249 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0001250 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0001251 GO:0050881 PATO:0000770 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0001260 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0001271 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0001288 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0001337 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0001424 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0001511 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0001665 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0001744 FMA:7196 PATO:0000586 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0002059 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0002135 FMA:62514 PATO:0001447 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0002240 FMA:7197 PATO:0000586 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0002309 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0002343 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0002545 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0002684 FMA:52800 PATO:0000591 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0002808 PATO:0001468 IEA PATO:0001869 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0002866 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0003101 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0003130 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0003151 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0003224 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0003278 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0003357 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0003469 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0003758 FMA:74315 PATO:0001999 FMA:74315 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0007415 ITM 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0007495 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0008932 IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 ERCC8 HP:0010234 IEA 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
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000028 Cryptorchidism IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000054 Micropenis IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000083 Renal failure IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000093 Proteinuria IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000135 Hypogonadism IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000252 Microcephaly IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000292 Loss of facial adipose tissue IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000303 Mandibular prognathia IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000335 Wizened face IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000407 Sensorineural hearing impairment IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000377 Abnormality of the pinna IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000417 Slender nose IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000486 Strabismus IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000515 Corneal opacity IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000518 Cataract IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000540 Hypermetropia IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000580 Pigmentary retinopathy IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000633 Decreased lacrimation IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000639 Nystagmus IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000648 Optic atrophy IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000670 Carious teeth IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000680 Delayed eruption of primary teeth IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000684 Delayed eruption of teeth ITM ITM 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000685 Hypoplasia of teeth IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000689 Dental malocclusion IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000726 Dementia IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000762 Decreased nerve conduction velocity IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000822 Hypertension IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000858 Menstrual irregularities ITM ITM 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000958 Dry skin IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000970 Anhidrosis IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000987 Atypical scarring of skin IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000992 Photosensitivity IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0001000 Abnormality of skin pigmentation IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0001124 Salt and pepper retinal pigmentation IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0001249 Intellectual disability IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0001250 Seizures IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0001251 Ataxia IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0001260 Dysarthria IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0001271 Polyneuropathy IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0001288 Gait disturbance IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0001337 Tremor IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0001424 Cachectic dwarfism IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0001511 Intrauterine growth restriction IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0001665 Abnormality of cardiac conduction IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0001744 Splenomegaly IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0002059 Cerebral atrophy IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0002135 Basal ganglia calcification IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0002240 Hepatomegaly IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0002309 Weakness IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0002343 Normal pressure hydrocephalus IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0002545 Patchy demyelination of subcortical white matter IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0002684 Thickened calvaria IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0002808 Kyphosis IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0002866 Hypoplastic iliac wings IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0001376 Decreased mobility of joints IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0003130 Abnormal myelination in sural nerve biopsies IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0003151 Disturbed visual and brainstem auditory evoked responses indicative of CNS demyelination IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0003224 Increased cellular sensitivity to UV light IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0003278 Small, squared off pelvis IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0003357 Thymic hormone decreased IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0003469 Dysmyelination IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0003758 Reduced subcutaneous adipose tissue IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0007495 Prematurely aged appearance IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0008850 Postnatal growth retardation, severe IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0010234 Ivory epiphyses of the phalanges of the hand IEA IEA 17.02.2009
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-278700.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-278700.tab 2012-03-03 16:36:18 UTC (rev 4185)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-278700.tab 2012-03-03 22:00:31 UTC (rev 4186)
@@ -1,23 +1,21 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA HP:0000007 IEA 17.02.2009
-MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA HP:0000252 FMA:46565 PATO:0000587 IEA 17.02.2009
-MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA HP:0000374 FMA:65132 HP:0000404 IEA 17.02.2009
-MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA HP:0000491 IEA 17.02.2009
-MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA HP:0000509 IEA 17.02.2009
-MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA HP:0000613 IEA 17.02.2009
-MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA HP:0000621 IEA 17.02.2009
-MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA HP:0000656 FMA:54437 PATO:0001597 IEA 17.02.2009
-MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA HP:0000992 FMA:54448 PATO:0000927 IEA 17.02.2009
-MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA HP:0001009 IEA 17.02.2009
-MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA HP:0001029 IEA 17.02.2009
-MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA HP:0001251 GO:0050881 PATO:0000770 IEA 17.02.2009
-MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA HP:0001257 IEA 17.02.2009
-MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA HP:0001265 IEA 17.02.2009
-MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA HP:0001266 IEA 17.02.2009
-MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA HP:0001268 IEA 17.02.2009
-MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA HP:0001286 IEA 17.02.2009
-MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA HP:0001480 ITM 17.02.2009
-MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA HP:0003079 IEA 17.02.2009
-MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA HP:0003593 ITM 17.02.2009
-MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA HP:0004334 FMA:7163 PATO:0001623 IEA 17.02.2009
-MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA HP:0007415 ITM 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
+MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA GENE XPA HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA GENE XPA HP:0000252 Microcephaly IEA IEA 17.02.2009
+MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA GENE XPA HP:0000407 Sensorineural hearing impairment IEA IEA 17.02.2009
+MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA GENE XPA HP:0000491 Keratitis IEA IEA 17.02.2009
+MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA GENE XPA HP:0000509 Conjunctivitis IEA IEA 17.02.2009
+MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA GENE XPA HP:0000613 Photophobia IEA IEA 17.02.2009
+MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA GENE XPA HP:0000621 Entropion IEA IEA 17.02.2009
+MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA GENE XPA HP:0000656 Ectropion IEA IEA 17.02.2009
+MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA GENE XPA HP:0000992 Photosensitivity IEA IEA 17.02.2009
+MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA GENE XPA HP:0001009 Telangiectasia IEA IEA 17.02.2009
+MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA GENE XPA HP:0001029 Poikiloderma IEA IEA 17.02.2009
+MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA GENE XPA HP:0001251 Ataxia IEA IEA 17.02.2009
+MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA GENE XPA HP:0001257 Spasticity IEA IEA 17.02.2009
+MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA GENE XPA HP:0001265 Hyporeflexia IEA IEA 17.02.2009
+MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA GENE XPA HP:0001266 Choreoathetosis IEA IEA 17.02.2009
+MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA GENE XPA HP:0001268 Mental deterioration IEA IEA 17.02.2009
+MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA GENE XPA HP:0001286 Low intelligence IEA IEA 17.02.2009
+MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA GENE XPA HP:0003079 Defective DNA repair after ultraviolet radiation damage IEA IEA 17.02.2009
+MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA GENE XPA HP:0003593 Infantile onset ITM ITM 17.02.2009
+MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA GENE XPA HP:0004334 Dermal atrophy IEA IEA 17.02.2009
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-278720.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-278720.tab 2012-03-03 16:36:18 UTC (rev 4185)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-278720.tab 2012-03-03 22:00:31 UTC (rev 4186)
@@ -1,16 +1,15 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C HP:0000007 IEA 17.02.2009
-MIM:278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C HP:0000491 IEA 17.02.2009
-MIM:278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C HP:0000509 IEA 17.02.2009
-MIM:278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C HP:0000613 IEA 17.02.2009
-MIM:278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C HP:0000621 IEA 17.02.2009
-MIM:278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C HP:0000656 FMA:54437 PATO:0001597 IEA 17.02.2009
-MIM:278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C HP:0000992 FMA:54448 PATO:0000927 IEA 17.02.2009
-MIM:278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C HP:0001009 IEA 17.02.2009
-MIM:278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C HP:0001029 IEA 17.02.2009
-MIM:278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C HP:0001480 ITM 17.02.2009
-MIM:278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C HP:0003079 IEA 17.02.2009
-MIM:278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C HP:0003593 ITM 17.02.2009
-MIM:278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C HP:0004334 FMA:7163 PATO:0001623 IEA 17.02.2009
-MIM:278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C HP:0006777 IEA 17.02.2009
-MIM:278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C HP:0007415 ITM 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
+MIM:278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C HP:0000491 Keratitis IEA IEA 17.02.2009
+MIM:278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C HP:0000509 Conjunctivitis IEA IEA 17.02.2009
+MIM:278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C HP:0000613 Photophobia IEA IEA 17.02.2009
+MIM:278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C HP:0000621 Entropion IEA IEA 17.02.2009
+MIM:278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C HP:0000656 Ectropion IEA IEA 17.02.2009
+MIM:278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C HP:0000992 Photosensitivity IEA IEA 17.02.2009
+MIM:278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C HP:0001009 Telangiectasia IEA IEA 17.02.2009
+MIM:278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C HP:0001029 Poikiloderma IEA IEA 17.02.2009
+MIM:278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C HP:0001480 Freckling ITM ITM 17.02.2009
+MIM:278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C HP:0003079 Defective DNA repair after ultraviolet radiation damage IEA IEA 17.02.2009
+MIM:278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C HP:0003593 Infantile onset ITM ITM 17.02.2009
+MIM:278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C HP:0004334 Dermal atrophy IEA IEA 17.02.2009
+MIM:278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C HP:0002861 Malignant melanoma IEA IEA 17.02.2009
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-278730.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-278730.tab 2012-03-03 16:36:18 UTC (rev 4185)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-278730.tab 2012-03-03 22:00:31 UTC (rev 4186)
@@ -1,28 +1,24 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 ERCC2 HP:0000007 IEA 17.02.2009
-MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 ERCC2 HP:0000252 FMA:46565 PATO:0000587 IEA 17.02.2009
-MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 ERCC2 HP:0000374 FMA:65132 HP:0000404 IEA 17.02.2009
-MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 ERCC2 HP:0000491 IEA 17.02.2009
-MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 ERCC2 HP:0000509 IEA 17.02.2009
-MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 ERCC2 HP:0000613 IEA 17.02.2009
-MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 ERCC2 HP:0000621 IEA 17.02.2009
-MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 ERCC2 HP:0000656 FMA:54437 PATO:0001597 IEA 17.02.2009
-MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 ERCC2 HP:0000955 ITM 17.02.2009
-MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 ERCC2 HP:0000992 FMA:54448 PATO:0000927 IEA 17.02.2009
-MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 ERCC2 HP:0001009 IEA 17.02.2009
-MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 ERCC2 HP:0001029 IEA 17.02.2009
-MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 ERCC2 HP:0001251 GO:0050881 PATO:0000770 IEA 17.02.2009
-MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 ERCC2 HP:0001257 IEA 17.02.2009
-MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 ERCC2 HP:0001265 IEA 17.02.2009
-MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 ERCC2 HP:0001266 IEA 17.02.2009
-MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 ERCC2 HP:0001268 IEA 17.02.2009
-MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 ERCC2 HP:0001286 IEA 17.02.2009
-MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 ERCC2 HP:0001480 ITM 17.02.2009
-MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 ERCC2 HP:0003079 IEA 17.02.2009
-MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 ERCC2 HP:0003241 ITM 17.02.2009
-MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 ERCC2 HP:0003501 ITM 17.02.2009
-MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 ERCC2 HP:0003584 ITM 17.02.2009
-MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 ERCC2 HP:0003593 ITM 17.02.2009
-MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 ERCC2 HP:0004334 FMA:7163 PATO:0001623 IEA 17.02.2009
-MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 ERCC2 HP:0007415 ITM 17.02.2009
-MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 ERCC2 HP:0007484 ITM 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
+MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0000252 Microcephaly IEA IEA 17.02.2009
+MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0000407 Sensorineural hearing impairment IEA IEA 17.02.2009
+MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0000491 Keratitis IEA IEA 17.02.2009
+MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0000509 Conjunctivitis IEA IEA 17.02.2009
+MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0000613 Photophobia IEA IEA 17.02.2009
+MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0000621 Entropion IEA IEA 17.02.2009
+MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0000656 Ectropion IEA IEA 17.02.2009
+MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0000992 Photosensitivity IEA IEA 17.02.2009
+MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0001009 Telangiectasia IEA IEA 17.02.2009
+MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0001029 Poikiloderma IEA IEA 17.02.2009
+MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0001251 Ataxia IEA IEA 17.02.2009
+MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0001257 Spasticity IEA IEA 17.02.2009
+MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0001265 Hyporeflexia IEA IEA 17.02.2009
+MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0001266 Choreoathetosis IEA IEA 17.02.2009
+MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0001268 Mental deterioration IEA IEA 17.02.2009
+MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0001286 Low intelligence IEA IEA 17.02.2009
+MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0001480 Freckling ITM ITM 17.02.2009
+MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0003079 Defective DNA repair after ultraviolet radiation damage IEA IEA 17.02.2009
+MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0003241 Genital hypoplasia ITM ITM 17.02.2009
+MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0003584 Late onset ITM ITM 17.02.2009
+MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0003593 Infantile onset ITM ITM 17.02.2009
+MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0004334 Dermal atrophy IEA IEA 17.02.2009
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-278740.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-278740.tab 2012-03-03 16:36:18 UTC (rev 4185)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-278740.tab 2012-03-03 22:00:31 UTC (rev 4186)
@@ -1,15 +1,14 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:278740 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E MIM:600811 DDB2 HP:0000007 IEA 17.02.2009
-MIM:278740 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E MIM:600811 DDB2 HP:0000491 IEA 17.02.2009
-MIM:278740 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E MIM:600811 DDB2 HP:0000509 IEA 17.02.2009
-MIM:278740 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E MIM:600811 DDB2 HP:0000613 IEA 17.02.2009
-MIM:278740 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E MIM:600811 DDB2 HP:0000621 IEA 17.02.2009
-MIM:278740 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E MIM:600811 DDB2 HP:0000656 FMA:54437 PATO:0001597 IEA 17.02.2009
-MIM:278740 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E MIM:600811 DDB2 HP:0000992 FMA:54448 PATO:0000927 IEA 17.02.2009
-MIM:278740 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E MIM:600811 DDB2 HP:0001009 IEA 17.02.2009
-MIM:278740 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E MIM:600811 DDB2 HP:0001029 IEA 17.02.2009
-MIM:278740 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E MIM:600811 DDB2 HP:0001480 ITM 17.02.2009
-MIM:278740 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E MIM:600811 DDB2 HP:0003079 IEA 17.02.2009
-MIM:278740 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E MIM:600811 DDB2 HP:0003593 ITM 17.02.2009
-MIM:278740 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E MIM:600811 DDB2 HP:0004334 FMA:7163 PATO:0001623 IEA 17.02.2009
-MIM:278740 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E MIM:600811 DDB2 HP:0007415 ITM 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
+MIM:278740 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E MIM:600811 DNA DAMAGE-BINDING PROTEIN 2 DDB2 HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:278740 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E MIM:600811 DNA DAMAGE-BINDING PROTEIN 2 DDB2 HP:0000491 Keratitis IEA IEA 17.02.2009
+MIM:278740 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E MIM:600811 DNA DAMAGE-BINDING PROTEIN 2 DDB2 HP:0000509 Conjunctivitis IEA IEA 17.02.2009
+MIM:278740 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E MIM:600811 DNA DAMAGE-BINDING PROTEIN 2 DDB2 HP:0000613 Photophobia IEA IEA 17.02.2009
+MIM:278740 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E MIM:600811 DNA DAMAGE-BINDING PROTEIN 2 DDB2 HP:0000621 Entropion IEA IEA 17.02.2009
+MIM:278740 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E MIM:600811 DNA DAMAGE-BINDING PROTEIN 2 DDB2 HP:0000656 Ectropion IEA IEA 17.02.2009
+MIM:278740 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E MIM:600811 DNA DAMAGE-BINDING PROTEIN 2 DDB2 HP:0000992 Photosensitivity IEA IEA 17.02.2009
+MIM:278740 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E MIM:600811 DNA DAMAGE-BINDING PROTEIN 2 DDB2 HP:0001009 Telangiectasia IEA IEA 17.02.2009
+MIM:278740 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E MIM:600811 DNA DAMAGE-BINDING PROTEIN 2 DDB2 HP:0001029 Poikiloderma IEA IEA 17.02.2009
+MIM:278740 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E MIM:600811 DNA DAMAGE-BINDING PROTEIN 2 DDB2 HP:0001480 Freckling ITM ITM 17.02.2009
+MIM:278740 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E MIM:600811 DNA DAMAGE-BINDING PROTEIN 2 DDB2 HP:0003079 Defective DNA repair after ultraviolet radiation damage IEA IEA 17.02.2009
+MIM:278740 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E MIM:600811 DNA DAMAGE-BINDING PROTEIN 2 DDB2 HP:0003593 Infantile onset ITM ITM 17.02.2009
+MIM:278740 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E MIM:600811 DNA DAMAGE-BINDING PROTEIN 2 DDB2 HP:0004334 Dermal atrophy IEA IEA 17.02.2009
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-278750.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-278750.tab 2012-03-03 16:36:18 UTC (rev 4185)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-278750.tab 2012-03-03 22:00:31 UTC (rev 4186)
@@ -1,14 +1,15 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:278750 XERODERMA PIGMENTOSUM, VARIANT TYPE MIM:603968 POLH HP:0000491 IEA 17.02.2009
-MIM:278750 XERODERMA PIGMENTOSUM, VARIANT TYPE MIM:603968 POLH HP:0000509 IEA 17.02.2009
-MIM:278750 XERODERMA PIGMENTOSUM, VARIANT TYPE MIM:603968 POLH HP:0000613 IEA 17.02.2009
-MIM:278750 XERODERMA PIGMENTOSUM, VARIANT TYPE MIM:603968 POLH HP:0000621 IEA 17.02.2009
-MIM:278750 XERODERMA PIGMENTOSUM, VARIANT TYPE MIM:603968 POLH HP:0000656 FMA:54437 PATO:0001597 IEA 17.02.2009
-MIM:278750 XERODERMA PIGMENTOSUM, VARIANT TYPE MIM:603968 POLH HP:0000992 FMA:54448 PATO:0000927 IEA 17.02.2009
-MIM:278750 XERODERMA PIGMENTOSUM, VARIANT TYPE MIM:603968 POLH HP:0001009 IEA 17.02.2009
-MIM:278750 XERODERMA PIGMENTOSUM, VARIANT TYPE MIM:603968 POLH HP:0001029 IEA 17.02.2009
-MIM:278750 XERODERMA PIGMENTOSUM, VARIANT TYPE MIM:603968 POLH HP:0001480 ITM 17.02.2009
-MIM:278750 XERODERMA PIGMENTOSUM, VARIANT TYPE MIM:603968 POLH HP:0001939 GO:0008152 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:278750 XERODERMA PIGMENTOSUM, VARIANT TYPE MIM:603968 POLH HP:0003593 ITM 17.02.2009
-MIM:278750 XERODERMA PIGMENTOSUM, VARIANT TYPE MIM:603968 POLH HP:0004334 FMA:7163 PATO:0001623 IEA 17.02.2009
-MIM:278750 XERODERMA PIGMENTOSUM, VARIANT TYPE MIM:603968 POLH HP:0007415 ITM 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
+MIM:278750 XERODERMA PIGMENTOSUM, VARIANT TYPE MIM:603968 POLYMERASE, DNA, ETA POLH HP:0000491 Keratitis IEA IEA 17.02.2009
+MIM:278750 XERODERMA PIGMENTOSUM, VARIANT TYPE MIM:603968 POLYMERASE, DNA, ETA POLH HP:0000509 Conjunctivitis IEA IEA 17.02.2009
+MIM:278750 XERODERMA PIGMENTOSUM, VARIANT TYPE MIM:603968 POLYMERASE, DNA, ETA POLH HP:0000613 Photophobia IEA IEA 17.02.2009
+MIM:278750 XERODERMA PIGMENTOSUM, VARIANT TYPE MIM:603968 POLYMERASE, DNA, ETA POLH HP:0000621 Entropion IEA IEA 17.02.2009
+MIM:278750 XERODERMA PIGMENTOSUM, VARIANT TYPE MIM:603968 POLYMERASE, DNA, ETA POLH HP:0000656 Ectropion IEA IEA 17.02.2009
+MIM:278750 XERODERMA PIGMENTOSUM, VARIANT TYPE MIM:603968 POLYMERASE, DNA, ETA POLH HP:0000992 Photosensitivity IEA IEA 17.02.2009
+MIM:278750 XERODERMA PIGMENTOSUM, VARIANT TYPE MIM:603968 POLYMERASE, DNA, ETA POLH HP:0001009 Telangiectasia IEA IEA 17.02.2009
+MIM:278750 XERODERMA PIGMENTOSUM, VARIANT TYPE MIM:603968 POLYMERASE, DNA, ETA POLH HP:0001029 Poikiloderma IEA IEA 17.02.2009
+MIM:278750 XERODERMA PIGMENTOSUM, VARIANT TYPE MIM:603968 POLYMERASE, DNA, ETA POLH HP:0001480 Freckling ITM ITM 17.02.2009
+MIM:278750 XERODERMA PIGMENTOSUM, VARIANT TYPE MIM:603968 POLYMERASE, DNA, ETA POLH HP:0003593 Infantile onset ITM ITM 17.02.2009
+MIM:278750 XERODERMA PIGMENTOSUM, VARIANT TYPE MIM:603968 POLYMERASE, DNA, ETA POLH HP:0004334 Dermal atrophy IEA IEA 17.02.2009
+MIM:278750 XERODERMA PIGMENTOSUM, VARIANT TYPE MIM:603968 POLYMERASE, DNA, ETA POLH HP:0002860 Squamous cell carcinoma IEA IEA 03.03.2012
+MIM:278750 XERODERMA PIGMENTOSUM, VARIANT TYPE MIM:603968 POLYMERASE, DNA, ETA POLH HP:0002671 Basal cell carcinoma IEA IEA 03.03.2012
+MIM:278750 XERODERMA PIGMENTOSUM, VARIANT TYPE MIM:603968 POLYMERASE, DNA, ETA POLH HP:0002861 Malignant melanoma IEA IEA 03.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-278780.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-278780.tab 2012-03-03 16:36:18 UTC (rev 4185)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-278780.tab 2012-03-03 22:00:31 UTC (rev 4186)
@@ -1,4 +1,3 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:278780 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G MIM:133530 ERCC5 HP:0000007 IEA 17.02.2009
-MIM:278780 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G MIM:133530 ERCC5 HP:0003079 IEA 17.02.2009
-MIM:278780 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G MIM:133530 ERCC5 HP:0007415 ITM 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
+MIM:278780 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G MIM:133530 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5 ERCC5 HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:278780 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G MIM:133530 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5 ERCC5 HP:0003079 Defective DNA repair after ultraviolet radiation damage IEA IEA 17.02.2009
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-610651.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-610651.tab 2012-03-03 16:36:18 UTC (rev 4185)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-610651.tab 2012-03-03 22:00:31 UTC (rev 4186)
@@ -1,28 +1,27 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 ERCC3 HP:0000007 IEA 17.02.2009
-MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 ERCC3 HP:0000135 IEA 17.02.2009
-MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 ERCC3 HP:0000252 FMA:46565 PATO:0000587 IEA 17.02.2009
-MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 ERCC3 HP:0000335 IEA 17.02.2009
-MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 ERCC3 HP:0000374 FMA:65132 HP:0000404 IEA 17.02.2009
-MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 ERCC3 HP:0000518 IEA 17.02.2009
-MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 ERCC3 HP:0000568 IEA 17.02.2009
-MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 ERCC3 HP:0000580 IEA 17.02.2009
-MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 ERCC3 HP:0000648 FMA:50863 PATO:0001623 IEA 17.02.2009
-MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 ERCC3 HP:0000762 IEA 17.02.2009
-MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 ERCC3 HP:0000992 FMA:54448 PATO:0000927 IEA 17.02.2009
-MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 ERCC3 HP:0001249 IEA 17.02.2009
-MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 ERCC3 HP:0001251 GO:0050881 PATO:0000770 IEA 17.02.2009
-MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 ERCC3 HP:0001272 IEA 17.02.2009
-MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 ERCC3 HP:0001347 IEA 17.02.2009
-MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 ERCC3 HP:0001480 IEA 17.02.2009
-MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 ERCC3 HP:0001509 FMA:20394 PATO:0000569 IEA 17.02.2009
-MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 ERCC3 HP:0002119 IEA 17.02.2009
-MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 ERCC3 HP:0002135 FMA:62514 PATO:0001447 IEA 17.02.2009
-MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 ERCC3 HP:0002520 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 ERCC3 HP:0002671 MPATH:234 PATO:0000912 IEA 17.02.2009
-MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 ERCC3 HP:0002860 IEA 17.02.2009
-MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 ERCC3 HP:0002861 IEA 17.02.2009
-MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 ERCC3 HP:0003224 IEA 17.02.2009
-MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 ERCC3 HP:0004334 FMA:7163 PATO:0001623 IEA 17.02.2009
-MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 ERCC3 HP:0006741 IEA 17.02.2009
-MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 ERCC3 HP:0007415 ITM 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
+MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3 ERCC3 HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3 ERCC3 HP:0000135 Hypogonadism IEA IEA 17.02.2009
+MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3 ERCC3 HP:0000252 Microcephaly IEA IEA 17.02.2009
+MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3 ERCC3 HP:0000335 Wizened face IEA IEA 17.02.2009
+MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3 ERCC3 HP:0000407 Sensorineural hearing impairment IEA IEA 17.02.2009
+MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3 ERCC3 HP:0000518 Cataract IEA IEA 17.02.2009
+MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3 ERCC3 HP:0000568 Microphthalmos IEA IEA 17.02.2009
+MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3 ERCC3 HP:0000580 Pigmentary retinopathy IEA IEA 17.02.2009
+MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3 ERCC3 HP:0000648 Optic atrophy IEA IEA 17.02.2009
+MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3 ERCC3 HP:0000762 Decreased nerve conduction velocity IEA IEA 17.02.2009
+MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3 ERCC3 HP:0000992 Photosensitivity IEA IEA 17.02.2009
+MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3 ERCC3 HP:0001249 Intellectual disability IEA IEA 17.02.2009
+MIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B MIM:133510 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3 ERCC3...
[truncated message content] |
|
From: <pr...@us...> - 2012-03-12 07:29:58
|
Revision: 4189
http://obo.svn.sourceforge.net/obo/?rev=4189&view=rev
Author: probins
Date: 2012-03-12 07:29:47 +0000 (Mon, 12 Mar 2012)
Log Message:
-----------
corrected annotation
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/MIM-164400.tab
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-164400.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-164400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-164400.tab 2012-03-09 17:56:41 UTC (rev 4188)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-164400.tab 2012-03-12 07:29:47 UTC (rev 4189)
@@ -1,28 +1,29 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATXN1 HP:0000006 IEA 17.02.2009
-MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATXN1 HP:0000018 IEA 17.02.2009
-MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATXN1 HP:0000514 IEA 17.02.2009
-MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATXN1 HP:0000623 IEA 17.02.2009
-MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATXN1 HP:0000639 IEA 17.02.2009
-MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATXN1 HP:0000648 FMA:50863 PATO:0001623 IEA 17.02.2009
-MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATXN1 HP:0001252 FMA:30316 PATO:0001619 IEA PATO:0001869 17.02.2009
-MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATXN1 HP:0001260 IEA 17.02.2009
-MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATXN1 HP:0001283 IEA 17.02.2009
-MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATXN1 HP:0001310 IEA 17.02.2009
-MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATXN1 HP:0001314 IEA 17.02.2009
-MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATXN1 HP:0001347 IEA 17.02.2009
-MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATXN1 HP:0002015 GO:0043050 PATO:0001641 IEA 17.02.2009
-MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATXN1 HP:0002071 IEA 17.02.2009
-MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATXN1 HP:0002072 IEA 17.02.2009
-MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATXN1 HP:0002073 IEA 17.02.2009
-MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATXN1 HP:0002075 IEA 17.02.2009
-MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATXN1 HP:0002129 IEA 17.02.2009
-MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATXN1 HP:0002168 IEA 17.02.2009
-MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATXN1 HP:0002542 IEA 17.02.2009
-MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATXN1 HP:0003134 IEA 17.02.2009
-MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATXN1 HP:0003202 FMA:5022 PATO:0001623 IEA 17.02.2009
-MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATXN1 HP:0003487 IEA 17.02.2009
-MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATXN1 HP:0003669 IEA 17.02.2009
-MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATXN1 HP:0003744 IEA 17.02.2009
-MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATXN1 HP:0007006 IEA 17.02.2009
-MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATXN1 HP:0007225 IEA 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
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0000018 Sphincter disturbance IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0000514 Slow saccades IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0000623 Supranuclear ophthalmoplegia IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0000639 Nystagmus IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0000648 Optic atrophy IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0001252 Muscular hypotonia IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0001260 Dysarthria IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0001283 Bulbar palsy IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0001310 Dysmetria IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0001284 Areflexia PCS PCS Late MIM:164400 probinson 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0001347 Hyperreflexia IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0002015 Dysphagia IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0002071 Extrapyramidal signs IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0002072 Chorea IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0002073 Progressive cerebellar ataxia IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0002075 Dysdiadochokinesis IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0100543 Cognitive impairment PCS PCS Mild MIM:164400 probinson 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0002168 Scanning speech IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0002542 Olivopontocerebellar atrophy IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0003134 Abnormal motor and sensory nerve conduction IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0003202 Amyotrophy IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0003487 Babinski sign IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0003581 Adult onset PCS PCS MIM:164400 probinson 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0003744 Genetic anticipation with paternal anticipation bias IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0007006 Dorsal column degeneration IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0002071 Extrapyramidal signs PCS PCS MIM:164400 probinson 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0002503 Spinocerebellar tract degeneration PCS PCS MIM:164400 probinson 12.03.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-164400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-164400.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-164400.tab 2012-03-12 07:29:47 UTC (rev 4189)
@@ -0,0 +1,29 @@
+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:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0000018 Sphincter disturbance IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0000514 Slow saccades IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0000623 Supranuclear ophthalmoplegia IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0000639 Nystagmus IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0000648 Optic atrophy IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0001252 Muscular hypotonia IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0001260 Dysarthria IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0001283 Bulbar palsy IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0001310 Dysmetria IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0001284 Areflexia PCS PCS Late MIM:164400 probinson 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0001347 Hyperreflexia IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0002015 Dysphagia IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0002071 Extrapyramidal signs IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0002072 Chorea IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0002073 Progressive cerebellar ataxia IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0002075 Dysdiadochokinesis IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0100543 Cognitive impairment PCS PCS Mild MIM:164400 probinson 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0002168 Scanning speech IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0002542 Olivopontocerebellar atrophy IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0003134 Abnormal motor and sensory nerve conduction IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0003202 Amyotrophy IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0003487 Babinski sign IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0003581 Adult onset PCS PCS MIM:164400 probinson 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0003744 Genetic anticipation with paternal anticipation bias IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0007006 Dorsal column degeneration IEA IEA 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0002071 Extrapyramidal signs PCS PCS MIM:164400 probinson 17.02.2009
+MIM:164400 SPINOCEREBELLAR ATAXIA 1 MIM:601556 ATAXIN 1 ATXN1 HP:0002503 Spinocerebellar tract degeneration PCS PCS MIM:164400 probinson 12.03.2012
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <pr...@us...> - 2012-03-12 19:12:58
|
Revision: 4190
http://obo.svn.sourceforge.net/obo/?rev=4190&view=rev
Author: probins
Date: 2012-03-12 19:12:46 +0000 (Mon, 12 Mar 2012)
Log Message:
-----------
Adding more corrected annotations
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/MIM-103050.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-118200.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-118210.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-201550.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-203450.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-214400.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-234200.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-256840.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-256850.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-302803.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-302900.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-310490.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-600142.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-600361.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-600882.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-601152.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-601170.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-603896.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-605588.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-605589.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-606595.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-606673.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-607684.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-607706.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-607932.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-608591.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-608809.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-609260.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-609541.tab
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-103050.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-118200.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-118210.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-201550.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-203450.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-214400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-234200.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-256840.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-256850.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-302803.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-302900.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-310490.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-600142.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-600361.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-600882.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-601152.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-601170.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-603896.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-605589.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-606595.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-606673.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-607684.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-607706.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-607932.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-608591.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-608809.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-609260.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-609541.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-103050.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-103050.tab 2012-03-12 07:29:47 UTC (rev 4189)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-103050.tab 2012-03-12 19:12:46 UTC (rev 4190)
@@ -1,8 +1,27 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:103050 ADENYLOSUCCINASE DEFICIENCY MIM:608222 ADSL HP:0000007 IEA 17.02.2009
-MIM:103050 ADENYLOSUCCINASE DEFICIENCY MIM:608222 ADSL HP:0000717 IEA 17.02.2009
-MIM:103050 ADENYLOSUCCINASE DEFICIENCY MIM:608222 ADSL HP:0001250 IEA 17.02.2009
-MIM:103050 ADENYLOSUCCINASE DEFICIENCY MIM:608222 ADSL HP:0001277 IEA 17.02.2009
-MIM:103050 ADENYLOSUCCINASE DEFICIENCY MIM:608222 ADSL HP:0001510 GO:0040007 PATO:0000911 IEA 17.02.2009
-MIM:103050 ADENYLOSUCCINASE DEFICIENCY MIM:608222 ADSL HP:0001939 GO:0008152 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:103050 ADENYLOSUCCINASE DEFICIENCY MIM:608222 ADSL HP:0007181 FMA:37417 PATO:0001623 ITM 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
+MIM:103050 ADENYLOSUCCINASE DEFICIENCY MIM:608222 ADENYLOSUCCINATE LYASE ADSL HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:103050 ADENYLOSUCCINASE DEFICIENCY MIM:608222 ADENYLOSUCCINATE LYASE ADSL HP:0000717 Autism IEA IEA 17.02.2009
+MIM:103050 ADENYLOSUCCINASE DEFICIENCY MIM:608222 ADENYLOSUCCINATE LYASE ADSL HP:0001250 Seizures IEA IEA 17.02.2009
+MIM:103050 ADENYLOSUCCINASE DEFICIENCY MIM:608222 ADENYLOSUCCINATE LYASE ADSL HP:0011344 Severe global developmental delay IEA IEA 17.02.2009
+MIM:103050 ADENYLOSUCCINASE DEFICIENCY MIM:608222 ADENYLOSUCCINATE LYASE ADSL HP:0001510 Growth delay IEA IEA 17.02.2009
+MIM:103050 ADENYLOSUCCINASE DEFICIENCY MIM:608222 ADENYLOSUCCINATE LYASE ADSL HP:0007181 Interosseus muscle atrophy ITM ITM 17.02.2009
+MIM:103050 ADENYLOSUCCINASE DEFICIENCY MIM:608222 ADENYLOSUCCINATE LYASE ADSL HP:0000248 Brachycephaly PCS PCS MIM:103050 probinson 12.03.2012
+MIM:103050 ADENYLOSUCCINASE DEFICIENCY MIM:608222 ADENYLOSUCCINATE LYASE ADSL HP:0000252 Microcephaly PCS PCS Rare MIM:103050 probinson 12.03.2012
+MIM:103050 ADENYLOSUCCINASE DEFICIENCY MIM:608222 ADENYLOSUCCINATE LYASE ADSL HP:0005487 Prominent metopic ridge PCS PCS MIM:103050 probinson 12.03.2012
+MIM:103050 ADENYLOSUCCINASE DEFICIENCY MIM:608222 ADENYLOSUCCINATE LYASE ADSL HP:0000343 Long philtrum PCS PCS MIM:103050 probinson 12.03.2012
+MIM:103050 ADENYLOSUCCINASE DEFICIENCY MIM:608222 ADENYLOSUCCINATE LYASE ADSL HP:0000319 Flat philtrum PCS PCS MIM:103050 probinson 12.03.2012
+MIM:103050 ADENYLOSUCCINASE DEFICIENCY MIM:608222 ADENYLOSUCCINATE LYASE ADSL HP:0000369 Low-set ears PCS PCS MIM:103050 probinson 12.03.2012
+MIM:103050 ADENYLOSUCCINASE DEFICIENCY MIM:608222 ADENYLOSUCCINATE LYASE ADSL HP:0000486 Strabismus PCS PCS MIM:103050 probinson 12.03.2012
+MIM:103050 ADENYLOSUCCINASE DEFICIENCY MIM:608222 ADENYLOSUCCINATE LYASE ADSL HP:0003196 Nasal hypoplasia PCS PCS MIM:103050 probinson 12.03.2012
+MIM:103050 ADENYLOSUCCINASE DEFICIENCY MIM:608222 ADENYLOSUCCINATE LYASE ADSL HP:0000639 Nystagmus PCS PCS MIM:103050 probinson 12.03.2012
+MIM:103050 ADENYLOSUCCINASE DEFICIENCY MIM:608222 ADENYLOSUCCINATE LYASE ADSL HP:0000463 Nares, anteverted PCS PCS MIM:103050 probinson 12.03.2012
+MIM:103050 ADENYLOSUCCINASE DEFICIENCY MIM:608222 ADENYLOSUCCINATE LYASE ADSL HP:0000219 Thin upper lip vermilion PCS PCS MIM:103050 probinson 12.03.2012
+MIM:103050 ADENYLOSUCCINASE DEFICIENCY MIM:608222 ADENYLOSUCCINATE LYASE ADSL HP:0000154 Wide mouth PCS PCS MIM:103050 probinson 12.03.2012
+MIM:103050 ADENYLOSUCCINASE DEFICIENCY MIM:608222 ADENYLOSUCCINATE LYASE ADSL HP:0002066 Gait ataxia PCS PCS MIM:103050 probinson 12.03.2012
+MIM:103050 ADENYLOSUCCINASE DEFICIENCY MIM:608222 ADENYLOSUCCINATE LYASE ADSL HP:0000750 Delayed speech and language development PCS PCS MIM:103050 probinson 12.03.2012
+MIM:103050 ADENYLOSUCCINASE DEFICIENCY MIM:608222 ADENYLOSUCCINATE LYASE ADSL HP:0001257 Spasticity PCS PCS MIM:103050 probinson 12.03.2012
+MIM:103050 ADENYLOSUCCINASE DEFICIENCY MIM:608222 ADENYLOSUCCINATE LYASE ADSL HP:0002179 Opisthotonus PCS PCS MIM:103050 probinson 12.03.2012
+MIM:103050 ADENYLOSUCCINASE DEFICIENCY MIM:608222 ADENYLOSUCCINATE LYASE ADSL HP:0001336 Myoclonus PCS PCS MIM:103050 probinson 12.03.2012
+MIM:103050 ADENYLOSUCCINASE DEFICIENCY MIM:608222 ADENYLOSUCCINATE LYASE ADSL HP:0006808 Cerebral hypomyelination PCS PCS MIM:103050 probinson 12.03.2012
+MIM:103050 ADENYLOSUCCINASE DEFICIENCY MIM:608222 ADENYLOSUCCINATE LYASE ADSL HP:0001272 Cerebellar atrophy PCS PCS MIM:103050 probinson 12.03.2012
+MIM:103050 ADENYLOSUCCINASE DEFICIENCY MIM:608222 ADENYLOSUCCINATE LYASE ADSL HP:0001272 Cerebellar atrophy PCS PCS MIM:103050 probinson 12.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-118200.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-118200.tab 2012-03-12 07:29:47 UTC (rev 4189)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-118200.tab 2012-03-12 19:12:46 UTC (rev 4190)
@@ -1,30 +1,24 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MPZ HP:0000006 IEA 17.02.2009
-MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MPZ HP:0000007 ITM 17.02.2009
-MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MPZ HP:0000760 IEA 17.02.2009
-MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MPZ HP:0001178 IEA 17.02.2009
-MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MPZ HP:0001265 IEA 17.02.2009
-MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MPZ HP:0001284 IEA 17.02.2009
-MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MPZ HP:0001425 ITM 17.02.2009
-MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MPZ HP:0001761 IEA 17.02.2009
-MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MPZ HP:0001765 IEA 17.02.2009
-MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MPZ HP:0002934 IEA 17.02.2009
-MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MPZ HP:0002935 IEA 17.02.2009
-MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MPZ HP:0002936 FMA:30327 HP:0003474 IEA 17.02.2009
-MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MPZ HP:0003376 IEA 17.02.2009
-MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MPZ HP:0003377 IEA 17.02.2009
-MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MPZ HP:0003380 IEA 17.02.2009
-MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MPZ HP:0003382 IEA 17.02.2009
-MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MPZ HP:0003383 IEA 17.02.2009
-MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MPZ HP:0003412 IEA 17.02.2009
-MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MPZ HP:0003425 IEA 17.02.2009
-MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MPZ HP:0003429 GO:0042552 PATO:0000911 ITM 17.02.2009
-MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MPZ HP:0003433 IEA 17.02.2009
-MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MPZ HP:0003449 IEA 17.02.2009
-MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MPZ HP:0003497 FMA:7182 HP:0002460 ITM 17.02.2009
-MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MPZ HP:0003587 IEA 17.02.2009
-MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MPZ HP:0003589 IEA 17.02.2009
-MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MPZ HP:0003677 IEA 17.02.2009
-MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MPZ HP:0003693 _:distal_muscle PATO:0001623 ITM 17.02.2009
-MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MPZ HP:0003814 IEA 17.02.2009
-MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MPZ HP:0007107 ITM 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
+MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0003431 Decreased motor nerve conduction velocity (NCV) IEA IEA 17.02.2009
+MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0001178 Claw hand deformities (in severe cases) IEA IEA 17.02.2009
+MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0001265 Hyporeflexia IEA IEA 17.02.2009
+MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0001761 Pes cavus IEA IEA 17.02.2009
+MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0001765 Hammertoe IEA IEA 17.02.2009
+MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0002934 Distal limb muscle atrophy due to peripheral neuropathy IEA IEA 17.02.2009
+MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0002935 Distal limb muscle weakness due to peripheral neuropathy IEA IEA 17.02.2009
+MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0002936 Distal sensory impairment IEA IEA 17.02.2009
+MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0003376 Steppage gait IEA IEA 17.02.2009
+MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0003377 Foot drop IEA IEA 17.02.2009
+MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0003380 Decreased number of peripheral myelinated nerve fibers IEA IEA 17.02.2009
+MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0003382 Hypertrophic nerve changes IEA IEA 17.02.2009
+MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0003383 Onion bulb formation IEA IEA 17.02.2009
+MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0002751 Kyphoscoliosis PCS PCS Frequent MIM:118200 probinson 17.02.2009
+MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0004336 Myelin outfoldings IEA IEA 17.02.2009
+MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0002460 Distal muscle weakness IEA IEA 17.02.2009
+MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0003449 Cold-induced muscle cramps IEA IEA 17.02.2009
+MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0003621 Juvenile onset PCS PCS 17.02.2009
+MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0003587 Insidious onset IEA IEA 17.02.2009
+MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0003677 Slow progression IEA IEA 17.02.2009
+MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0003693 Distal amyotrophy PCS PCS MIM:118200 probinson 17.02.2009
+MIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0007107 Segmental peripheral demyelination ITM ITM 17.02.2009
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-118210.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-118210.tab 2012-03-12 07:29:47 UTC (rev 4189)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-118210.tab 2012-03-12 19:12:46 UTC (rev 4190)
@@ -1,22 +1,19 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 MIM:605995 KIF1B HP:0000006 IEA 17.02.2009
-MIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 MIM:605995 KIF1B HP:0000007 ITM 17.02.2009
-MIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 MIM:605995 KIF1B HP:0001265 IEA 17.02.2009
-MIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 MIM:605995 KIF1B HP:0001284 IEA 17.02.2009
-MIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 MIM:605995 KIF1B HP:0001425 ITM 17.02.2009
-MIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 MIM:605995 KIF1B HP:0001761 IEA 17.02.2009
-MIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 MIM:605995 KIF1B HP:0001765 IEA 17.02.2009
-MIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 MIM:605995 KIF1B HP:0002934 IEA 17.02.2009
-MIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 MIM:605995 KIF1B HP:0002935 IEA 17.02.2009
-MIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 MIM:605995 KIF1B HP:0002936 FMA:30327 HP:0003474 IEA 17.02.2009
-MIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 MIM:605995 KIF1B HP:0003376 IEA 17.02.2009
-MIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 MIM:605995 KIF1B HP:0003377 IEA 17.02.2009
-MIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 MIM:605995 KIF1B HP:0003378 IEA 17.02.2009
-MIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 MIM:605995 KIF1B HP:0003384 IEA 17.02.2009
-MIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 MIM:605995 KIF1B HP:0003385 IEA 17.02.2009
-MIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 MIM:605995 KIF1B HP:0003389 IEA 17.02.2009
-MIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 MIM:605995 KIF1B HP:0003437 IEA 17.02.2009
-MIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 MIM:605995 KIF1B HP:0003497 FMA:7182 HP:0002460 ITM 17.02.2009
-MIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 MIM:605995 KIF1B HP:0003668 IEA 17.02.2009
-MIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 MIM:605995 KIF1B HP:0003677 IEA 17.02.2009
-MIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 MIM:605995 KIF1B HP:0003693 _:distal_muscle PATO:0001623 ITM 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
+MIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 MIM:605995 KINESIN FAMILY MEMBER 1B KIF1B HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 MIM:605995 KINESIN FAMILY MEMBER 1B KIF1B HP:0001265 Hyporeflexia IEA IEA 17.02.2009
+MIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 MIM:605995 KINESIN FAMILY MEMBER 1B KIF1B HP:0001284 Areflexia IEA IEA 17.02.2009
+MIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 MIM:605995 KINESIN FAMILY MEMBER 1B KIF1B HP:0001761 Pes cavus IEA IEA 17.02.2009
+MIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 MIM:605995 KINESIN FAMILY MEMBER 1B KIF1B HP:0001765 Hammertoe IEA IEA 17.02.2009
+MIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 MIM:605995 KINESIN FAMILY MEMBER 1B KIF1B HP:0002934 Distal limb muscle atrophy due to peripheral neuropathy IEA IEA 17.02.2009
+MIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 MIM:605995 KINESIN FAMILY MEMBER 1B KIF1B HP:0002935 Distal limb muscle weakness due to peripheral neuropathy IEA IEA 17.02.2009
+MIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 MIM:605995 KINESIN FAMILY MEMBER 1B KIF1B HP:0002936 Distal sensory impairment IEA IEA 17.02.2009
+MIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 MIM:605995 KINESIN FAMILY MEMBER 1B KIF1B HP:0003376 Steppage gait IEA IEA 17.02.2009
+MIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 MIM:605995 KINESIN FAMILY MEMBER 1B KIF1B HP:0003377 Foot drop IEA IEA 17.02.2009
+MIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 MIM:605995 KINESIN FAMILY MEMBER 1B KIF1B HP:0003378 Axonal degeneration/regeneration IEA IEA 17.02.2009
+MIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 MIM:605995 KINESIN FAMILY MEMBER 1B KIF1B HP:0003384 Axonal atrophy IEA IEA 17.02.2009
+MIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 MIM:605995 KINESIN FAMILY MEMBER 1B KIF1B HP:0003380 Decreased number of peripheral myelinated nerve fibers IEA IEA 17.02.2009
+MIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 MIM:605995 KINESIN FAMILY MEMBER 1B KIF1B HP:0003383 Onion bulb formation IEA IEA 17.02.2009
+MIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 MIM:605995 KINESIN FAMILY MEMBER 1B KIF1B HP:0003431 Decreased motor nerve conduction velocity (NCV) IEA IEA Mild MIM:118210 probinson 17.02.2009
+MIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 MIM:605995 KINESIN FAMILY MEMBER 1B KIF1B HP:0003590 Adolescent onset IEA IEA 17.02.2009
+MIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 MIM:605995 KINESIN FAMILY MEMBER 1B KIF1B HP:0003677 Slow progression IEA IEA 17.02.2009
+MIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 MIM:605995 KINESIN FAMILY MEMBER 1B KIF1B HP:0003693 Distal amyotrophy ITM ITM 17.02.2009
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-201550.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-201550.tab 2012-03-12 07:29:47 UTC (rev 4189)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-201550.tab 2012-03-12 19:12:46 UTC (rev 4190)
@@ -1,18 +1,19 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:201550 ADDUCTED THUMBS SYNDROME HP:0000007 IEA 17.02.2009
-MIM:201550 ADDUCTED THUMBS SYNDROME HP:0000175 FMA:54549 PATO:0000403 IEA 17.02.2009
-MIM:201550 ADDUCTED THUMBS SYNDROME HP:0000218 FMA:54549 PATO:0000570 IEA 17.02.2009
-MIM:201550 ADDUCTED THUMBS SYNDROME HP:0000220 IEA 17.02.2009
-MIM:201550 ADDUCTED THUMBS SYNDROME HP:0000252 FMA:46565 PATO:0000587 IEA 17.02.2009
-MIM:201550 ADDUCTED THUMBS SYNDROME HP:0000998 IEA 17.02.2009
-MIM:201550 ADDUCTED THUMBS SYNDROME HP:0001290 PATO:0001619 IEA PATO:0001869 17.02.2009
-MIM:201550 ADDUCTED THUMBS SYNDROME HP:0001365 IEA 17.02.2009
-MIM:201550 ADDUCTED THUMBS SYNDROME HP:0001390 ITM 17.02.2009
-MIM:201550 ADDUCTED THUMBS SYNDROME HP:0002015 GO:0043050 PATO:0001641 IEA 17.02.2009
-MIM:201550 ADDUCTED THUMBS SYNDROME HP:0002058 IEA 17.02.2009
-MIM:201550 ADDUCTED THUMBS SYNDROME HP:0002093 FMA:7158 PATO:0001628 IEA 17.02.2009
-MIM:201550 ADDUCTED THUMBS SYNDROME HP:0002804 ITM 17.02.2009
-MIM:201550 ADDUCTED THUMBS SYNDROME HP:0003198 IEA 17.02.2009
-MIM:201550 ADDUCTED THUMBS SYNDROME HP:0003552 FMA:5022 PATO:0001545 ITM 17.02.2009
-MIM:201550 ADDUCTED THUMBS SYNDROME HP:0004571 FMA:17740 PATO:0000600 ITM 17.02.2009
-MIM:201550 ADDUCTED THUMBS SYNDROME HP:0006990 IEA 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
+MIM:201550 ADDUCTED THUMBS SYNDROME HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:201550 ADDUCTED THUMBS SYNDROME HP:0000175 Cleft palate IEA IEA 17.02.2009
+MIM:201550 ADDUCTED THUMBS SYNDROME HP:0000218 High palate IEA IEA 17.02.2009
+MIM:201550 ADDUCTED THUMBS SYNDROME HP:0000220 Velopharyngeal insufficiency IEA IEA 17.02.2009
+MIM:201550 ADDUCTED THUMBS SYNDROME HP:0000252 Microcephaly IEA IEA 17.02.2009
+MIM:201550 ADDUCTED THUMBS SYNDROME HP:0000998 Hypertrichosis IEA IEA 17.02.2009
+MIM:201550 ADDUCTED THUMBS SYNDROME HP:0001290 Generalized hypotonia IEA IEA 17.02.2009
+MIM:201550 ADDUCTED THUMBS SYNDROME HP:0001363 Craniosynostosis IEA IEA 17.02.2009
+MIM:201550 ADDUCTED THUMBS SYNDROME HP:0002804 Arthrogryposis multiplex congenita ITM ITM 17.02.2009
+MIM:201550 ADDUCTED THUMBS SYNDROME HP:0002015 Dysphagia IEA IEA 17.02.2009
+MIM:201550 ADDUCTED THUMBS SYNDROME HP:0002058 Myopathic facies IEA IEA 17.02.2009
+MIM:201550 ADDUCTED THUMBS SYNDROME HP:0002093 Respiratory insufficiency IEA IEA 17.02.2009
+MIM:201550 ADDUCTED THUMBS SYNDROME HP:0002804 Arthrogryposis multiplex congenita ITM ITM 17.02.2009
+MIM:201550 ADDUCTED THUMBS SYNDROME HP:0003198 Myopathy IEA IEA 17.02.2009
+MIM:201550 ADDUCTED THUMBS SYNDROME HP:0003552 Muscle stiffness ITM ITM 17.02.2009
+MIM:201550 ADDUCTED THUMBS SYNDROME HP:0004571 widening of cervical spinal canal ITM ITM 17.02.2009
+MIM:201550 ADDUCTED THUMBS SYNDROME HP:0006990 Dysmyelination with excess myelin-dependent gliosis IEA IEA 17.02.2009
+MIM:201550 ADDUCTED THUMBS SYNDROME HP:0007266 Cerebral dysmyelination PCS PCS MIM:201550 probinson 12.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-203450.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-203450.tab 2012-03-12 07:29:47 UTC (rev 4189)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-203450.tab 2012-03-12 19:12:46 UTC (rev 4190)
@@ -1,17 +1,12 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:203450 ALEXANDER DISEASE GFAP, NDUFV1 HP:0000006 IEA 17.02.2009
-MIM:203450 ALEXANDER DISEASE GFAP, NDUFV1 HP:0000238 FMA:50801 PATO:0001853 FMA:20935 IEA 17.02.2009
-MIM:203450 ALEXANDER DISEASE GFAP, NDUFV1 HP:0001250 IEA 17.02.2009
-MIM:203450 ALEXANDER DISEASE GFAP, NDUFV1 HP:0001251 GO:0050881 PATO:0000770 ITM 17.02.2009
-MIM:203450 ALEXANDER DISEASE GFAP, NDUFV1 HP:0001257 IEA 17.02.2009
-MIM:203450 ALEXANDER DISEASE GFAP, NDUFV1 HP:0001425 ITM 17.02.2009
-MIM:203450 ALEXANDER DISEASE GFAP, NDUFV1 HP:0001939 GO:0008152 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:203450 ALEXANDER DISEASE GFAP, NDUFV1 HP:0002483 ITM 17.02.2009
-MIM:203450 ALEXANDER DISEASE GFAP, NDUFV1 HP:0002489 IEA 17.02.2009
-MIM:203450 ALEXANDER DISEASE GFAP, NDUFV1 HP:0002922 FMA:20935 PATO:0001162 FMA:67257 IEA 17.02.2009
-MIM:203450 ALEXANDER DISEASE GFAP, NDUFV1 HP:0003576 ITM 17.02.2009
-MIM:203450 ALEXANDER DISEASE GFAP, NDUFV1 HP:0003578 ITM 17.02.2009
-MIM:203450 ALEXANDER DISEASE GFAP, NDUFV1 HP:0003590 ITM 17.02.2009
-MIM:203450 ALEXANDER DISEASE GFAP, NDUFV1 HP:0003621 ITM 17.02.2009
-MIM:203450 ALEXANDER DISEASE GFAP, NDUFV1 HP:0004481 FMA:46565 PATO:0000586 IEA PATO:0001818 17.02.2009
-MIM:203450 ALEXANDER DISEASE GFAP, NDUFV1 HP:0006881 IEA 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
+MIM:203450 ALEXANDER DISEASE GFAP, NDUFV1 HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:203450 ALEXANDER DISEASE GFAP, NDUFV1 HP:0000238 Hydrocephalus IEA IEA 17.02.2009
+MIM:203450 ALEXANDER DISEASE GFAP, NDUFV1 HP:0001250 Seizures IEA IEA 17.02.2009
+MIM:203450 ALEXANDER DISEASE GFAP, NDUFV1 HP:0001251 Ataxia PCS PCS Common pmid:12975300 probinson 17.02.2009
+MIM:203450 ALEXANDER DISEASE GFAP, NDUFV1 HP:0001257 Spasticity IEA IEA 17.02.2009
+MIM:203450 ALEXANDER DISEASE GFAP, NDUFV1 HP:0002483 Bulbar signs ITM ITM 17.02.2009
+MIM:203450 ALEXANDER DISEASE GFAP, NDUFV1 HP:0002376 Developmental regression PCS PCS MIM:203450 probinson 17.02.2009
+MIM:203450 ALEXANDER DISEASE GFAP, NDUFV1 HP:0002922 Increased CSF protein IEA IEA 17.02.2009
+MIM:203450 ALEXANDER DISEASE GFAP, NDUFV1 HP:0003593 Infantile onset PCS PCS 17.02.2009
+MIM:203450 ALEXANDER DISEASE GFAP, NDUFV1 HP:0004481 Macrocephaly, progressive IEA IEA 17.02.2009
+MIM:203450 ALEXANDER DISEASE GFAP, NDUFV1 HP:0007162 Diffuse demyelination of the cerebral white matter IEA IEA 17.02.2009
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-214400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-214400.tab 2012-03-12 07:29:47 UTC (rev 4189)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-214400.tab 2012-03-12 19:12:46 UTC (rev 4190)
@@ -1,23 +1,22 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GDAP1 HP:0000007 IEA 17.02.2009
-MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GDAP1 HP:0000760 IEA 17.02.2009
-MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GDAP1 HP:0000764 GO:0030424 PATO:0000639 ITM 17.02.2009
-MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GDAP1 HP:0001178 IEA 17.02.2009
-MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GDAP1 HP:0001265 IEA 17.02.2009
-MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GDAP1 HP:0001270 IEA 17.02.2009
-MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GDAP1 HP:0001284 IEA 17.02.2009
-MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GDAP1 HP:0001425 ITM 17.02.2009
-MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GDAP1 HP:0001760 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GDAP1 HP:0002934 IEA 17.02.2009
-MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GDAP1 HP:0002935 IEA 17.02.2009
-MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GDAP1 HP:0002936 FMA:30327 HP:0003474 IEA 17.02.2009
-MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GDAP1 HP:0003380 IEA 17.02.2009
-MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GDAP1 HP:0003382 IEA 17.02.2009
-MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GDAP1 HP:0003400 GO:0005605 HP:0003383 IEA 17.02.2009
-MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GDAP1 HP:0003412 IEA 17.02.2009
-MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GDAP1 HP:0003429 GO:0042552 PATO:0000911 IEA 17.02.2009
-MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GDAP1 HP:0003497 FMA:7182 HP:0002460 ITM 17.02.2009
-MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GDAP1 HP:0003667 IEA 17.02.2009
-MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GDAP1 HP:0003678 ITM 17.02.2009
-MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GDAP1 HP:0003693 _:distal_muscle PATO:0001623 ITM 17.02.2009
-MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GDAP1 HP:0006915 IEA 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
+MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0003431 Decreased motor nerve conduction velocity (NCV) IEA IEA 17.02.2009
+MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0000764 Axonal degeneration PCS PCS MIM:214400 probinson 17.02.2009
+MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0001178 Claw hand deformities (in severe cases) IEA IEA 17.02.2009
+MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0001265 Hyporeflexia IEA IEA 17.02.2009
+MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0001270 Motor delay IEA IEA 17.02.2009
+MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0001284 Areflexia IEA IEA 17.02.2009
+MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0001425 Heterogeneous ITM ITM 17.02.2009
+MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0001760 Abnormality of the feet IEA IEA 17.02.2009
+MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0002934 Distal limb muscle atrophy due to peripheral neuropathy IEA IEA 17.02.2009
+MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0002935 Distal limb muscle weakness due to peripheral neuropathy IEA IEA 17.02.2009
+MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0002936 Distal sensory impairment IEA IEA 17.02.2009
+MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0003380 Decreased number of peripheral myelinated nerve fibers IEA IEA 17.02.2009
+MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0003382 Hypertrophic nerve changes IEA IEA 17.02.2009
+MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0003400 Basal lamina 'onion bulb' formation IEA IEA 17.02.2009
+MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0002751 Kyphoscoliosis IEA IEA Frequent MIM:214400 probinson 17.02.2009
+MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0007182 Peripheral hypomyelination IEA IEA 17.02.2009
+MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0003593 Infantile onset IEA IEA 17.02.2009
+MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0003678 Rapidly progressive ITM ITM 17.02.2009
+MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0003693 Distal amyotrophy ITM ITM 17.02.2009
+MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0006915 Inability to walk by childhood/adolescence IEA IEA 17.02.2009
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-234200.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-234200.tab 2012-03-12 07:29:47 UTC (rev 4189)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-234200.tab 2012-03-12 19:12:46 UTC (rev 4190)
@@ -1,42 +1,41 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0000007 IEA 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0000020 IEA 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0000273 IEA 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0000546 FMA:58301 PATO:0000639 IEA 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0000580 IEA 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0000643 IEA 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0000648 FMA:50863 PATO:0001623 IEA 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0000715 IEA 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0000716 IEA 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0000752 IEA 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0001251 GO:0050881 PATO:0000770 IEA 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0001255 IEA 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0001257 IEA 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0001260 IEA 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0001266 IEA 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0001288 IEA 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0001300 IEA 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0001332 FMA:30316 PATO:0001814 IEA 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0001337 IEA 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0001618 IEA 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0001760 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0002015 GO:0043050 PATO:0001641 IEA 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0002022 IEA 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0002063 IEA 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0002067 IEA 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0002071 IEA 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0002180 ITM 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0002186 ITM 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0002274 IEA 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0002283 IEA 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0002303 IEA 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0002304 IEA 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0002310 IEA 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0002454 IEA 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0003199 FMA:5022 PATO:0001562 IEA 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0003677 ITM 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0003678 ITM 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0006874 IEA 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0007225 IEA 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0007610 ITM 17.02.2009
-MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANK2 HP:0008770 IEA 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
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0000020 Urinary incontinence IEA IEA 17.02.2009
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0000273 Facial grimacing IEA IEA 17.02.2009
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0000546 Retinal degeneration IEA IEA 17.02.2009
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0000580 Pigmentary retinopathy IEA IEA 17.02.2009
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0000643 Blepharospasm IEA IEA 17.02.2009
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0000648 Optic atrophy IEA IEA 17.02.2009
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0000708 Behavioural/Psychiatric Abnormality IEA IEA 17.02.2009
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0000716 Depression IEA IEA 17.02.2009
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0000752 Hyperactivity IEA IEA 17.02.2009
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0001251 Ataxia IEA IEA 17.02.2009
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0001263 Global developmental delay IEA IEA 17.02.2009
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0001257 Spasticity IEA IEA 17.02.2009
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0001260 Dysarthria IEA IEA 17.02.2009
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0001266 Choreoathetosis IEA IEA 17.02.2009
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0001288 Gait disturbance IEA IEA 17.02.2009
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0001300 Parkinsonism IEA IEA 17.02.2009
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0001332 Dystonia IEA IEA 17.02.2009
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0001337 Tremor IEA IEA 17.02.2009
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0001618 Dysphonia IEA IEA 17.02.2009
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0001760 Abnormality of the feet IEA IEA 17.02.2009
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0002015 Dysphagia IEA IEA 17.02.2009
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0002022 Feeding difficulties IEA IEA 17.02.2009
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0002063 Rigidity IEA IEA 17.02.2009
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0002067 Bradykinesia IEA IEA 17.02.2009
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0002071 Extrapyramidal signs IEA IEA 17.02.2009
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0002180 Neurodegeneration ITM ITM 17.02.2009
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0002186 Apraxia ITM ITM 17.02.2009
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0000726 Dementia IEA IEA 17.02.2009
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0002283 Diffuse brain atrophy IEA IEA 17.02.2009
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0001268 Mental deterioration IEA IEA 17.02.2009
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0002304 Akinesia IEA IEA 17.02.2009
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0002310 Orofacial dyskinesia IEA IEA 17.02.2009
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0002454 Eye of the tiger anomaly of globus pallidus IEA IEA 17.02.2009
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0003199 Decreased muscle mass IEA IEA 17.02.2009
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0003677 Slow progression ITM ITM 17.02.2009
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0003678 Rapidly progressive ITM ITM 17.02.2009
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0006874 Neuroaxonal degeneration in the brain IEA IEA 17.02.2009
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0007610 Blotching pigmentation of the skin ITM ITM 17.02.2009
+MIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 MIM:606157 PANTOTHENATE KINASE 2 PANK2 HP:0008770 Obsessive-compulsive trait IEA IEA 17.02.2009
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-256840.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-256840.tab 2012-03-12 07:29:47 UTC (rev 4189)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-256840.tab 2012-03-12 19:12:46 UTC (rev 4190)
@@ -1,23 +1,22 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMALRECESSIVE MIM:610150 CCT5 HP:0000007 IEA 17.02.2009
-MIM:256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMALRECESSIVE MIM:610150 CCT5 HP:0001258 IEA 17.02.2009
-MIM:256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMALRECESSIVE MIM:610150 CCT5 HP:0001347 IEA 17.02.2009
-MIM:256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMALRECESSIVE MIM:610150 CCT5 HP:0001760 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMALRECESSIVE MIM:610150 CCT5 HP:0001939 GO:0008152 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMALRECESSIVE MIM:610150 CCT5 HP:0002061 FMA:7184 HP:0001257 IEA 17.02.2009
-MIM:256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMALRECESSIVE MIM:610150 CCT5 HP:0002064 IEA 17.02.2009
-MIM:256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMALRECESSIVE MIM:610150 CCT5 HP:0002169 IEA 17.02.2009
-MIM:256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMALRECESSIVE MIM:610150 CCT5 HP:0002754 GO:0006954 PATO:0002017 ITM 17.02.2009
-MIM:256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMALRECESSIVE MIM:610150 CCT5 HP:0002934 ITM 17.02.2009
-MIM:256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMALRECESSIVE MIM:610150 CCT5 HP:0003407 ITM 17.02.2009
-MIM:256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMALRECESSIVE MIM:610150 CCT5 HP:0003437 IEA 17.02.2009
-MIM:256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMALRECESSIVE MIM:610150 CCT5 HP:0003477 GO:0030424 HP:0003407 IEA 17.02.2009
-MIM:256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMALRECESSIVE MIM:610150 CCT5 HP:0003487 IEA 17.02.2009
-MIM:256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMALRECESSIVE MIM:610150 CCT5 HP:0003579 ITM 17.02.2009
-MIM:256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMALRECESSIVE MIM:610150 CCT5 HP:0003580 IEA 17.02.2009
-MIM:256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMALRECESSIVE MIM:610150 CCT5 HP:0003678 ITM 17.02.2009
-MIM:256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMALRECESSIVE MIM:610150 CCT5 HP:0003693 _:distal_muscle PATO:0001623 ITM 17.02.2009
-MIM:256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMALRECESSIVE MIM:610150 CCT5 HP:0005040 IEA 17.02.2009
-MIM:256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMALRECESSIVE MIM:610150 CCT5 HP:0006827 IEA 17.02.2009
-MIM:256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMALRECESSIVE MIM:610150 CCT5 HP:0006843 ITM 17.02.2009
-MIM:256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMALRECESSIVE MIM:610150 CCT5 HP:0006984 IEA 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
+MIM:256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL MIM:610150 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 5 CCT5 HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL MIM:610150 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 5 CCT5 HP:0001258 Spastic paraplegia IEA IEA 17.02.2009
+MIM:256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL MIM:610150 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 5 CCT5 HP:0001347 Hyperreflexia IEA IEA 17.02.2009
+MIM:256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL MIM:610150 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 5 CCT5 HP:0001760 Abnormality of the feet IEA IEA 17.02.2009
+MIM:256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL MIM:610150 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 5 CCT5 HP:0001939 Abnormality of metabolism/homeostasis IEA IEA 17.02.2009
+MIM:256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL MIM:610150 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 5 CCT5 HP:0002061 Lower limb spasticity IEA IEA 17.02.2009
+MIM:256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL MIM:610150 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 5 CCT5 HP:0002064 Spastic gait IEA IEA 17.02.2009
+MIM:256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL MIM:610150 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 5 CCT5 HP:0002169 Clonus IEA IEA 17.02.2009
+MIM:256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL MIM:610150 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 5 CCT5 HP:0002754 Osteomyelitis ITM ITM 17.02.2009
+MIM:256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL MIM:610150 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 5 CCT5 HP:0002934 Distal limb muscle atrophy due to peripheral neuropathy ITM ITM 17.02.2009
+MIM:256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL MIM:610150 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 5 CCT5 HP:0003487 Babinski sign IEA IEA 17.02.2009
+MIM:256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL MIM:610150 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 5 CCT5 HP:0003621 Juvenile onset IEA IEA 17.02.2009
+MIM:256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AU...
[truncated message content] |
|
From: <pr...@us...> - 2012-03-12 19:57:51
|
Revision: 4191
http://obo.svn.sourceforge.net/obo/?rev=4191&view=rev
Author: probins
Date: 2012-03-12 19:57:44 +0000 (Mon, 12 Mar 2012)
Log Message:
-----------
More corrected annotation files
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/MIM-148360.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-182815.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-239840.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-604360.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-605039.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-182815.tab
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-148360.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-239840.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-604360.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-605039.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-148360.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-148360.tab 2012-03-12 19:12:46 UTC (rev 4190)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-148360.tab 2012-03-12 19:57:44 UTC (rev 4191)
@@ -1,8 +1,8 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:148360 KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORYNEUROPATHY HP:0000006 IEA 17.02.2009
-MIM:148360 KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORYNEUROPATHY HP:0000982 IEA 17.02.2009
-MIM:148360 KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORYNEUROPATHY HP:0001425 IEA 17.02.2009
-MIM:148360 KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORYNEUROPATHY HP:0001761 IEA 17.02.2009
-MIM:148360 KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORYNEUROPATHY HP:0002164 FMA:54326 PATO:0001780 IEA 17.02.2009
-MIM:148360 KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORYNEUROPATHY HP:0007142 IEA 17.02.2009
-MIM:148360 KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORYNEUROPATHY HP:0008304 IEA 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
+MIM:148360 KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORY HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:148360 KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORY HP:0000982 Palmoplantar keratoderma IEA IEA 17.02.2009
+MIM:148360 KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORY HP:0001425 Heterogeneous IEA IEA 17.02.2009
+MIM:148360 KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORY HP:0001761 Pes cavus IEA IEA 17.02.2009
+MIM:148360 KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORY HP:0002164 Nail dysplasia IEA IEA 17.02.2009
+MIM:148360 KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORY HP:0007002 Motor axonal neuropathy PCS PCS MIM:148360 probinson 12.03.2012
+MIM:148360 KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORY HP:0003390 Sensory axonal neuropathy PCS PCS MIM:148360 probinson 12.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-182815.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-182815.tab 2012-03-12 19:12:46 UTC (rev 4190)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-182815.tab 2012-03-12 19:57:44 UTC (rev 4191)
@@ -2,9 +2,9 @@
MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0001029 Poikiloderma IEA IEA 17.02.2009
MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0001258 Spastic paraplegia IEA IEA 17.02.2009
-MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0007043 Peripheral sensory and motor neuropathy IEA IEA 17.02.2009
MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0003693 Distal amyotrophy IEA IEA 17.02.2009
MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0002223 Absent eyebrow IEA IEA 17.02.2009
-MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0007108 Demyelinating peripheral neuropathy IEA IEA 17.02.2009
MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0003383 Onion bulb formation IEA IEA 17.02.2009
MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0000561 Absent eyelashes IEA IEA 02.03.2012
+MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0007220 Demyelinating motor neuropathy PCS PCS MIM:182815 probinson 12.03.2012
+MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0011402 Demyelinating sensory neuropathy PCS PCS MIM:182815 probinson 12.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-239840.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-239840.tab 2012-03-12 19:12:46 UTC (rev 4190)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-239840.tab 2012-03-12 19:57:44 UTC (rev 4191)
@@ -1,5 +1,6 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:239840 HYPERTRICHOSIS, CONGENITAL ANTERIOR CERVICAL, WITH PERIPHERAL SENSORYAND MOTOR NEUROPATHY HP:0000007 IEA 17.02.2009
-MIM:239840 HYPERTRICHOSIS, CONGENITAL ANTERIOR CERVICAL, WITH PERIPHERAL SENSORYAND MOTOR NEUROPATHY HP:0002754 GO:0006954 PATO:0002017 IEA 17.02.2009
-MIM:239840 HYPERTRICHOSIS, CONGENITAL ANTERIOR CERVICAL, WITH PERIPHERAL SENSORYAND MOTOR NEUROPATHY HP:0004517 IEA 17.02.2009
-MIM:239840 HYPERTRICHOSIS, CONGENITAL ANTERIOR CERVICAL, WITH PERIPHERAL SENSORYAND MOTOR NEUROPATHY HP:0007043 IEA 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
+MIM:239840 HYPERTRICHOSIS, CONGENITAL ANTERIOR CERVICAL, WITH PERIPHERAL SENSORY HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:239840 HYPERTRICHOSIS, CONGENITAL ANTERIOR CERVICAL, WITH PERIPHERAL SENSORY HP:0002754 Osteomyelitis IEA IEA 17.02.2009
+MIM:239840 HYPERTRICHOSIS, CONGENITAL ANTERIOR CERVICAL, WITH PERIPHERAL SENSORY HP:0004535 Anterior cervical hypertrichosis PCS PCS MIM:239840 probinson 12.03.2012
+MIM:239840 HYPERTRICHOSIS, CONGENITAL ANTERIOR CERVICAL, WITH PERIPHERAL SENSORY HP:0007178 Motor polyneuropathy PCS PCS MIM:239840 probinson 12.03.2012
+MIM:239840 HYPERTRICHOSIS, CONGENITAL ANTERIOR CERVICAL, WITH PERIPHERAL SENSORY HP:0000763 Sensory neuropathy PCS PCS MIM:239840 probinson 12.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-604360.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-604360.tab 2012-03-12 19:12:46 UTC (rev 4190)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-604360.tab 2012-03-12 19:57:44 UTC (rev 4191)
@@ -1,33 +1,32 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 HP:0000007 IEA 17.02.2009
-MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 HP:0000012 IEA 17.02.2009
-MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 HP:0000018 IEA 17.02.2009
-MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 HP:0000020 IEA 17.02.2009
-MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 HP:0000639 ITM 17.02.2009
-MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 HP:0001251 GO:0050881 PATO:0000770 IEA 17.02.2009
-MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 HP:0001258 ITM 17.02.2009
-MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 HP:0001260 IEA 17.02.2009
-MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 HP:0001274 PATO:0001557 FMA:86464 IEA 17.02.2009
-MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 HP:0001328 IEA 17.02.2009
-MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 HP:0001347 IEA 17.02.2009
-MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 HP:0001761 IEA 17.02.2009
-MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 HP:0002015 GO:0043050 PATO:0001641 IEA 17.02.2009
-MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 HP:0002061 FMA:7184 HP:0001257 IEA 17.02.2009
-MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 HP:0002064 IEA 17.02.2009
-MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 HP:0002120 IEA 17.02.2009
-MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 HP:0002166 IEA 17.02.2009
-MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 HP:0002314 FMA:72635 PATO:0000639 IEA 17.02.2009
-MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 HP:0002319 FMA:86464 PATO:0000592 IEA 17.02.2009
-MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 HP:0002337 ITM 17.02.2009
-MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 HP:0002394 IEA 17.02.2009
-MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 HP:0002518 IEA 17.02.2009
-MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 HP:0002541 FMA:24974 HP:0002169 IEA 17.02.2009
-MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 HP:0002839 IEA 17.02.2009
-MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 HP:0003487 IEA 17.02.2009
-MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 HP:0003578 ITM 17.02.2009
-MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 HP:0003662 IEA 17.02.2009
-MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 HP:0003676 IEA 17.02.2009
-MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 HP:0003702 IEA 17.02.2009
-MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 HP:0007067 IEA 17.02.2009
-MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 HP:0007142 ITM 17.02.2009
-MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 HP:0007340 FMA:9622 PATO:0001779 IEA 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
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0000012 Urinary urgency IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0000018 Sphincter disturbance IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0000020 Urinary incontinence IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0000639 Nystagmus ITM ITM 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0001251 Ataxia IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0001258 Spastic paraplegia ITM ITM 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0001260 Dysarthria IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0001274 Agenesis of corpus callosum IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0001328 Specific learning disability IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0001347 Hyperreflexia IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0001761 Pes cavus IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0002015 Dysphagia IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0002061 Lower limb spasticity IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0002064 Spastic gait IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0002120 Cerebral cortical atrophy IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0002166 Decreased vibratory sense in the lower limbs IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0002314 Degeneration of the lateral corticospinal tracts IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0002319 Thin corpus callosum IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0002394 Walking on tiptoes IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0002518 Abnormality of the periventricular white matter IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0002541 Knee and ankle clonus IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0002839 Sphincter disturbances (bladder) IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0003487 Babinski sign IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0003676 Progressive disorder IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0003702 Neurogenic muscle atrophy IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0007067 Peripheral sensory neuropathy, distal IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0007340 Lower limb muscle weakness IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0001268 Mental deterioration PCS PCS MIM:604360 12.03.2012
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0007178 Motor polyneuropathy PCS PCS MIM:604360 12.03.2012
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0000763 Sensory neuropathy PCS PCS MIM:604360 12.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-605039.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-605039.tab 2012-03-12 19:12:46 UTC (rev 4190)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-605039.tab 2012-03-12 19:57:44 UTC (rev 4191)
@@ -1,45 +1,44 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0000007 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0000076 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0000175 FMA:54549 PATO:0000403 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0000187 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0000189 FMA:54549 PATO:0000599 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0000204 FMA:59816 PATO:0000403 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0000210 FMA:54396 PATO:0000587 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0000243 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0000252 FMA:46565 PATO:0000587 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0000254 FMA:63864 PATO:0000001 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0000276 FMA:24728 PATO:0000573 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0000316 FMA:54450 PATO:0000374 FMA:54449 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0000329 FMA:24728 HP:0001028 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0000369 FMA:52780 PATO:0001476 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0000431 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0000486 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0000536 FMA:54448 PATO:0001482 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0000582 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0000960 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0001007 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0001052 ITM 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0001169 FMA:9712 PATO:0000600 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0001182 FMA:9666 PATO:0001500 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0001252 FMA:30316 PATO:0001619 IEA PATO:0001869 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0001263 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0001274 PATO:0001557 FMA:86464 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0001305 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0001508 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0001509 FMA:20394 PATO:0000569 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0001511 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0001561 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0001629 FMA:7133 PATO:0000609 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0001631 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0001767 FMA:70664 PATO:0000574 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0001845 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0001869 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0002079 FMA:86464 PATO:0000645 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0002188 GO:0042552 PATO:0000502 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0002558 FMA:67771 PATO:0000470 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0002566 FMA:7199 HP:0002566 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0003083 FMA:33773 PATO:0001852 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0006276 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0006610 IEA 17.02.2009
-MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 HP:0010563 IEA 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
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0000076 Vesicoureteral reflux IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0000175 Cleft palate IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0000187 Broad alveolar ridges IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0000189 Narrow palate IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0000204 Cleft upper lip IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0000347 Micrognathia IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0000243 Trigonocephaly IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0000252 Microcephaly IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0011220 Prominent forehead IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0000276 Long face IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0000316 Hypertelorism IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0000329 Facial hemangioma IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0000369 Low-set ears IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0000431 Broad nasal bridge IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0000486 Strabismus IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0000520 Proptosis IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0000582 Upslanted palpebral fissure IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0000960 Sacral dimple IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0001007 Hirsutism IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0001052 Nevus flammeus ITM ITM 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0001169 Broad palm IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0001182 Tapered finger IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0001252 Muscular hypotonia IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0001263 Global developmental delay IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0001274 Agenesis of corpus callosum IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0001305 Dandy-Walker malformation IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0001508 Failure to thrive IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0004322 Short stature IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0001511 Intrauterine growth restriction IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0001561 Polyhydramnios IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0001629 Ventricular septal defect IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0001631 Atrial septal defect IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0004701 Hypoplasia of the toes IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0001845 Overlapping toes IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0001869 Deep plantar creases IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0002079 Hypoplasia of the corpus callosum IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0002558 Supernumerary nipples IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0002566 Intestinal malrotation IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0003083 Dislocated radial head IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0006276 Hyperechogenic pancreas IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0006610 Wide intermamillary distance IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0011401 Delayed peripheral myelination PCS PCS MIM:605039 probinson 12.03.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-148360.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-148360.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-148360.tab 2012-03-12 19:57:44 UTC (rev 4191)
@@ -0,0 +1,8 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+MIM:148360 KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORY HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:148360 KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORY HP:0000982 Palmoplantar keratoderma IEA IEA 17.02.2009
+MIM:148360 KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORY HP:0001425 Heterogeneous IEA IEA 17.02.2009
+MIM:148360 KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORY HP:0001761 Pes cavus IEA IEA 17.02.2009
+MIM:148360 KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORY HP:0002164 Nail dysplasia IEA IEA 17.02.2009
+MIM:148360 KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORY HP:0007002 Motor axonal neuropathy PCS PCS MIM:148360 probinson 12.03.2012
+MIM:148360 KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORY HP:0003390 Sensory axonal neuropathy PCS PCS MIM:148360 probinson 12.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-182815.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-182815.tab 2012-03-12 19:12:46 UTC (rev 4190)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-182815.tab 2012-03-12 19:57:44 UTC (rev 4191)
@@ -2,9 +2,9 @@
MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0001029 Poikiloderma IEA IEA 17.02.2009
MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0001258 Spastic paraplegia IEA IEA 17.02.2009
-MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0007043 Peripheral sensory and motor neuropathy IEA IEA 17.02.2009
MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0003693 Distal amyotrophy IEA IEA 17.02.2009
MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0002223 Absent eyebrow IEA IEA 17.02.2009
-MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0007108 Demyelinating peripheral neuropathy IEA IEA 17.02.2009
MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0003383 Onion bulb formation IEA IEA 17.02.2009
MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0000561 Absent eyelashes IEA IEA 02.03.2012
+MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0007220 Demyelinating motor neuropathy PCS PCS MIM:182815 probinson 12.03.2012
+MIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA HP:0011402 Demyelinating sensory neuropathy PCS PCS MIM:182815 probinson 12.03.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-239840.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-239840.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-239840.tab 2012-03-12 19:57:44 UTC (rev 4191)
@@ -0,0 +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:239840 HYPERTRICHOSIS, CONGENITAL ANTERIOR CERVICAL, WITH PERIPHERAL SENSORY HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:239840 HYPERTRICHOSIS, CONGENITAL ANTERIOR CERVICAL, WITH PERIPHERAL SENSORY HP:0002754 Osteomyelitis IEA IEA 17.02.2009
+MIM:239840 HYPERTRICHOSIS, CONGENITAL ANTERIOR CERVICAL, WITH PERIPHERAL SENSORY HP:0004535 Anterior cervical hypertrichosis PCS PCS MIM:239840 probinson 12.03.2012
+MIM:239840 HYPERTRICHOSIS, CONGENITAL ANTERIOR CERVICAL, WITH PERIPHERAL SENSORY HP:0007178 Motor polyneuropathy PCS PCS MIM:239840 probinson 12.03.2012
+MIM:239840 HYPERTRICHOSIS, CONGENITAL ANTERIOR CERVICAL, WITH PERIPHERAL SENSORY HP:0000763 Sensory neuropathy PCS PCS MIM:239840 probinson 12.03.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-604360.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-604360.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-604360.tab 2012-03-12 19:57:44 UTC (rev 4191)
@@ -0,0 +1,32 @@
+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:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0000012 Urinary urgency IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0000018 Sphincter disturbance IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0000020 Urinary incontinence IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0000639 Nystagmus ITM ITM 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0001251 Ataxia IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0001258 Spastic paraplegia ITM ITM 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0001260 Dysarthria IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0001274 Agenesis of corpus callosum IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0001328 Specific learning disability IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0001347 Hyperreflexia IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0001761 Pes cavus IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0002015 Dysphagia IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0002061 Lower limb spasticity IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0002064 Spastic gait IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0002120 Cerebral cortical atrophy IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0002166 Decreased vibratory sense in the lower limbs IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0002314 Degeneration of the lateral corticospinal tracts IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0002319 Thin corpus callosum IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0002394 Walking on tiptoes IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0002518 Abnormality of the periventricular white matter IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0002541 Knee and ankle clonus IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0002839 Sphincter disturbances (bladder) IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0003487 Babinski sign IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0003676 Progressive disorder IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0003702 Neurogenic muscle atrophy IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0007067 Peripheral sensory neuropathy, distal IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0007340 Lower limb muscle weakness IEA IEA 17.02.2009
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0001268 Mental deterioration PCS PCS MIM:604360 12.03.2012
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0007178 Motor polyneuropathy PCS PCS MIM:604360 12.03.2012
+MIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE MIM:610844 SPG11 GENE SPG11 HP:0000763 Sensory neuropathy PCS PCS MIM:604360 12.03.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-605039.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-605039.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-605039.tab 2012-03-12 19:57:44 UTC (rev 4191)
@@ -0,0 +1,44 @@
+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:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0000076 Vesicoureteral reflux IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0000175 Cleft palate IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0000187 Broad alveolar ridges IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0000189 Narrow palate IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0000204 Cleft upper lip IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0000347 Micrognathia IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0000243 Trigonocephaly IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0000252 Microcephaly IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0011220 Prominent forehead IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0000276 Long face IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0000316 Hypertelorism IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0000329 Facial hemangioma IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0000369 Low-set ears IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0000431 Broad nasal bridge IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0000486 Strabismus IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0000520 Proptosis IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0000582 Upslanted palpebral fissure IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0000960 Sacral dimple IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0001007 Hirsutism IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0001052 Nevus flammeus ITM ITM 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0001169 Broad palm IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0001182 Tapered finger IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0001252 Muscular hypotonia IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0001263 Global developmental delay IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0001274 Agenesis of corpus callosum IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0001305 Dandy-Walker malformation IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0001508 Failure to thrive IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0004322 Short stature IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0001511 Intrauterine growth restriction IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0001561 Polyhydramnios IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0001629 Ventricular septal defect IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0001631 Atrial septal defect IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0004701 Hypoplasia of the toes IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0001845 Overlapping toes IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0001869 Deep plantar creases IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0002079 Hypoplasia of the corpus callosum IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0002558 Supernumerary nipples IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0002566 Intestinal malrotation IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0003083 Dislocated radial head IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0006276 Hyperechogenic pancreas IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0006610 Wide intermamillary distance IEA IEA 17.02.2009
+MIM:605039 C-LIKE SYNDROME MIM:606037 CD96 ANTIGEN CD96 HP:0011401 Delayed peripheral myelination PCS PCS MIM:605039 probinson 12.03.2012
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <pr...@us...> - 2012-03-13 07:04:28
|
Revision: 4192
http://obo.svn.sourceforge.net/obo/?rev=4192&view=rev
Author: probins
Date: 2012-03-13 07:04:16 +0000 (Tue, 13 Mar 2012)
Log Message:
-----------
More corrected annotations
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/MIM-182960.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-302801.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-302802.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-601596.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-605253.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-605588.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-607677.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-607678.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-607791.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-608323.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-609311.tab
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-182960.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-302801.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-302802.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-601596.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-605253.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-605588.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-607677.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-607678.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-607791.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-608323.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-609311.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-182960.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-182960.tab 2012-03-12 19:57:44 UTC (rev 4191)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-182960.tab 2012-03-13 07:04:16 UTC (rev 4192)
@@ -1,10 +1,13 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I HP:0000006 IEA 17.02.2009
-MIM:182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I HP:0001276 FMA:30316 PATO:0001618 IEA 17.02.2009
-MIM:182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I HP:0001761 IEA 17.02.2009
-MIM:182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I HP:0001765 IEA 17.02.2009
-MIM:182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I HP:0003011 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I HP:0003446 IEA 17.02.2009
-MIM:182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I HP:0003484 IEA 17.02.2009
-MIM:182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I HP:0003487 IEA 17.02.2009
-MIM:182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I HP:0003676 IEA 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
+MIM:182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I HP:0001276 Hypertonia IEA IEA 17.02.2009
+MIM:182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I HP:0001761 Pes cavus IEA IEA 17.02.2009
+MIM:182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I HP:0001765 Hammertoe IEA IEA 17.02.2009
+MIM:182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I HP:0003446 Chronic sural axonal neuropathy IEA IEA 17.02.2009
+MIM:182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I HP:0003484 Upper limb involvement may occur later IEA IEA 17.02.2009
+MIM:182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I HP:0003487 Babinski sign IEA IEA 17.02.2009
+MIM:182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I HP:0003676 Progressive disorder IEA IEA 17.02.2009
+MIM:182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I HP:0002460 Distal muscle weakness PCS PCS MIM:182960 probinson 13.03.2012
+MIM:182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I HP:0003693 Distal amyotrophy PCS PCS MIM:182960 probinson 13.03.2012
+MIM:182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I HP:0007144 Decreased vibration sense in feet PCS PCS MIM:182960 probinson 13.03.2012
+MIM:182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I HP:0003484 Upper limb involvement may occur later PCS PCS Late MIM:182960 probinson 13.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-302801.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-302801.tab 2012-03-12 19:57:44 UTC (rev 4191)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-302801.tab 2012-03-13 07:04:16 UTC (rev 4192)
@@ -1,13 +1,15 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0000761 IEA 17.02.2009
-MIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0001249 IEA 17.02.2009
-MIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0001284 IEA 17.02.2009
-MIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0001419 IEA 17.02.2009
-MIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0001761 IEA 17.02.2009
-MIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0002935 IEA 17.02.2009
-MIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0003376 IEA 17.02.2009
-MIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0003377 IEA 17.02.2009
-MIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0003476 IEA 17.02.2009
-MIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0003482 IEA 17.02.2009
-MIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0003576 IEA 17.02.2009
-MIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0006864 IEA 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
+MIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0003431 Decreased motor nerve conduction velocity IEA IEA 17.02.2009
+MIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0001284 Areflexia IEA IEA 17.02.2009
+MIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0001419 X-linked recessive inheritance IEA IEA 17.02.2009
+MIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0001761 Pes cavus IEA IEA 17.02.2009
+MIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0002935 Distal limb muscle weakness due to peripheral neuropathy IEA IEA 17.02.2009
+MIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0003376 Steppage gait IEA IEA 17.02.2009
+MIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0003377 Foot drop IEA IEA 17.02.2009
+MIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0002936 Distal sensory impairment IEA IEA Mild 17.02.2009
+MIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0003482 EMG: axonal abnormality IEA IEA 17.02.2009
+MIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0003593 Infantile onset IEA IEA 17.02.2009
+MIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0009830 Peripheral neuropathy IEA IEA 17.02.2009
+MIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0001249 Intellectual disability IEA IEA Rare MIM:302901 probinson 13.03.2012
+MIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0002934 Distal limb muscle atrophy due to peripheral neuropathy IEA IEA Rare MIM:302901 probinson 13.03.2012
+MIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0003484 Upper limb muscle weakness IEA IEA Late MIM:302901 probinson 13.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-302802.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-302802.tab 2012-03-12 19:57:44 UTC (rev 4191)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-302802.tab 2012-03-13 07:04:16 UTC (rev 4192)
@@ -1,11 +1,12 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 HP:0000761 IEA 17.02.2009
-MIM:302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 HP:0001284 IEA 17.02.2009
-MIM:302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 HP:0001419 IEA 17.02.2009
-MIM:302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 HP:0001761 IEA 17.02.2009
-MIM:302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 HP:0002934 IEA 17.02.2009
-MIM:302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 HP:0002935 IEA 17.02.2009
-MIM:302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 HP:0003376 IEA 17.02.2009
-MIM:302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 HP:0003377 IEA 17.02.2009
-MIM:302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 HP:0003476 IEA 17.02.2009
-MIM:302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 HP:0003482 IEA 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
+MIM:302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 HP:0000762 Decreased nerve conduction velocity IEA IEA 17.02.2009
+MIM:302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 HP:0001284 Areflexia IEA IEA 17.02.2009
+MIM:302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 HP:0001419 X-linked recessive inheritance IEA IEA 17.02.2009
+MIM:302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 HP:0001761 Pes cavus IEA IEA 17.02.2009
+MIM:302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 HP:0002934 Distal limb muscle atrophy due to peripheral neuropathy IEA IEA 17.02.2009
+MIM:302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 HP:0002935 Distal limb muscle weakness due to peripheral neuropathy IEA IEA 17.02.2009
+MIM:302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 HP:0003376 Steppage gait IEA IEA 17.02.2009
+MIM:302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 HP:0003377 Foot drop IEA IEA 17.02.2009
+MIM:302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 HP:0002936 Distal sensory impairment IEA IEA 17.02.2009
+MIM:302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 HP:0003482 EMG: axonal abnormality IEA IEA 17.02.2009
+MIM:302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 HP:0003484 Upper limb muscle weakness IEA IEA Late MIM:302802 probinson 13.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-601596.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-601596.tab 2012-03-12 19:57:44 UTC (rev 4191)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-601596.tab 2012-03-13 07:04:16 UTC (rev 4192)
@@ -1,24 +1,24 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3TC2 HP:0000007 IEA 17.02.2009
-MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3TC2 HP:0000153 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3TC2 HP:0000404 GO:0007605 PATO:0000462 IEA 17.02.2009
-MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3TC2 HP:0000760 IEA 17.02.2009
-MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3TC2 HP:0000764 GO:0030424 PATO:0000639 ITM 17.02.2009
-MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3TC2 HP:0001270 IEA 17.02.2009
-MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3TC2 HP:0001308 FMA:54640 HP:0002380 IEA 17.02.2009
-MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3TC2 HP:0001425 ITM 17.02.2009
-MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3TC2 HP:0001761 IEA 17.02.2009
-MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3TC2 HP:0002355 IEA 17.02.2009
-MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3TC2 HP:0002650 PATO:0002049 ITM PATO:0001869 17.02.2009
-MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3TC2 HP:0002936 FMA:30327 HP:0003474 ITM 17.02.2009
-MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3TC2 HP:0003387 IEA 17.02.2009
-MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3TC2 HP:0003400 GO:0005605 HP:0003383 IEA 17.02.2009
-MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3TC2 HP:0003442 IEA 17.02.2009
-MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3TC2 HP:0003480 IEA 17.02.2009
-MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3TC2 HP:0003485 IEA 17.02.2009
-MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3TC2 HP:0003584 ITM 17.02.2009
-MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3TC2 HP:0003593 ITM 17.02.2009
-MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3TC2 HP:0003822 IEA 17.02.2009
-MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3TC2 HP:0004466 IEA 17.02.2009
-MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3TC2 HP:0007107 IEA 17.02.2009
-MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3TC2 HP:0007695 IEA 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
+MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2 SH3TC2 HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2 SH3TC2 HP:0000153 Abnormality of the mouth IEA IEA 17.02.2009
+MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2 SH3TC2 HP:0000404 Deafness IEA IEA 17.02.2009
+MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2 SH3TC2 HP:0003431 Decreased motor nerve conduction velocity IEA IEA 17.02.2009
+MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2 SH3TC2 HP:0000764 Peripheral axonal degeneration ITM ITM 17.02.2009
+MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2 SH3TC2 HP:0001270 Motor delay IEA IEA 17.02.2009
+MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2 SH3TC2 HP:0001308 Tongue fasciculations IEA IEA 17.02.2009
+MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2 SH3TC2 HP:0001425 Heterogeneous ITM ITM 17.02.2009
+MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2 SH3TC2 HP:0001761 Pes cavus IEA IEA 17.02.2009
+MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2 SH3TC2 HP:0002355 Difficulty walking IEA IEA 17.02.2009
+MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2 SH3TC2 HP:0002936 Distal sensory impairment ITM ITM 17.02.2009
+MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2 SH3TC2 HP:0003387 Decreased number of large peripheral myelinated nerve fibers IEA IEA 17.02.2009
+MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2 SH3TC2 HP:0003400 Basal lamina 'onion bulb' formation IEA IEA 17.02.2009
+MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2 SH3TC2 HP:0003442 Distal lower limb muscle atrophy due to peripheral neuropathy IEA IEA 17.02.2009
+MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2 SH3TC2 HP:0001291 Abnormality of the cranial nerves IEA IEA 17.02.2009
+MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2 SH3TC2 HP:0003485 Distal lower limb muscle weakness due to peripheral neuropathy IEA IEA 17.02.2009
+MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2 SH3TC2 HP:0003584 Late onset ITM ITM 17.02.2009
+MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2 SH3TC2 HP:0003593 Infantile onset ITM ITM 17.02.2009
+MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2 SH3TC2 HP:0004466 prolonged brainstem auditory evoked potentials IEA IEA 17.02.2009
+MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2 SH3TC2 HP:0007107 Segmental peripheral demyelination IEA IEA 17.02.2009
+MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2 SH3TC2 HP:0007695 Abnormal pupillary light reflexes IEA IEA 17.02.2009
+MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2 SH3TC2 HP:0002650 Scoliosis PCS PCS Severe MIM:601596 probinson 13.03.2012
+MIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C MIM:608206 SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2 SH3TC2 HP:0003484 Upper limb muscle weakness PCS PCS Late MIM:601596 probinson 13.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-605253.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-605253.tab 2012-03-12 19:57:44 UTC (rev 4191)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-605253.tab 2012-03-13 07:04:16 UTC (rev 4192)
@@ -1,18 +1,17 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:605253 NEUROPATHY, CONGENITAL HYPOMYELINATING EGR2, MPZ HP:0000006 IEA 17.02.2009
-MIM:605253 NEUROPATHY, CONGENITAL HYPOMYELINATING EGR2, MPZ HP:0000007 IEA 17.02.2009
-MIM:605253 NEUROPATHY, CONGENITAL HYPOMYELINATING EGR2, MPZ HP:0001270 IEA 17.02.2009
-MIM:605253 NEUROPATHY, CONGENITAL HYPOMYELINATING EGR2, MPZ HP:0001284 IEA 17.02.2009
-MIM:605253 NEUROPATHY, CONGENITAL HYPOMYELINATING EGR2, MPZ HP:0001319 IEA 17.02.2009
-MIM:605253 NEUROPATHY, CONGENITAL HYPOMYELINATING EGR2, MPZ HP:0002093 FMA:7158 PATO:0001628 ITM 17.02.2009
-MIM:605253 NEUROPATHY, CONGENITAL HYPOMYELINATING EGR2, MPZ HP:0002934 IEA 17.02.2009
-MIM:605253 NEUROPATHY, CONGENITAL HYPOMYELINATING EGR2, MPZ HP:0002935 IEA 17.02.2009
-MIM:605253 NEUROPATHY, CONGENITAL HYPOMYELINATING EGR2, MPZ HP:0003407 ITM 17.02.2009
-MIM:605253 NEUROPATHY, CONGENITAL HYPOMYELINATING EGR2, MPZ HP:0003480 IEA 17.02.2009
-MIM:605253 NEUROPATHY, CONGENITAL HYPOMYELINATING EGR2, MPZ HP:0003484 IEA 17.02.2009
-MIM:605253 NEUROPATHY, CONGENITAL HYPOMYELINATING EGR2, MPZ HP:0003497 FMA:7182 HP:0002460 ITM 17.02.2009
-MIM:605253 NEUROPATHY, CONGENITAL HYPOMYELINATING EGR2, MPZ HP:0003577 IEA 17.02.2009
-MIM:605253 NEUROPATHY, CONGENITAL HYPOMYELINATING EGR2, MPZ HP:0003693 _:distal_muscle PATO:0001623 ITM 17.02.2009
-MIM:605253 NEUROPATHY, CONGENITAL HYPOMYELINATING EGR2, MPZ HP:0005859 IEA 17.02.2009
-MIM:605253 NEUROPATHY, CONGENITAL HYPOMYELINATING EGR2, MPZ HP:0006907 IEA 17.02.2009
-MIM:605253 NEUROPATHY, CONGENITAL HYPOMYELINATING EGR2, MPZ HP:0007012 IEA 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
+MIM:605253 NEUROPATHY, CONGENITAL HYPOMYELINATING EGR2, MPZ HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:605253 NEUROPATHY, CONGENITAL HYPOMYELINATING EGR2, MPZ HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:605253 NEUROPATHY, CONGENITAL HYPOMYELINATING EGR2, MPZ HP:0001270 Motor delay IEA IEA 17.02.2009
+MIM:605253 NEUROPATHY, CONGENITAL HYPOMYELINATING EGR2, MPZ HP:0001284 Areflexia IEA IEA 17.02.2009
+MIM:605253 NEUROPATHY, CONGENITAL HYPOMYELINATING EGR2, MPZ HP:0001319 Neonatal hypotonia IEA IEA 17.02.2009
+MIM:605253 NEUROPATHY, CONGENITAL HYPOMYELINATING EGR2, MPZ HP:0002093 Respiratory insufficiency ITM ITM 17.02.2009
+MIM:605253 NEUROPATHY, CONGENITAL HYPOMYELINATING EGR2, MPZ HP:0002934 Distal limb muscle atrophy due to peripheral neuropathy IEA IEA 17.02.2009
+MIM:605253 NEUROPATHY, CONGENITAL HYPOMYELINATING EGR2, MPZ HP:0002935 Distal limb muscle weakness due to peripheral neuropathy IEA IEA 17.02.2009
+MIM:605253 NEUROPATHY, CONGENITAL HYPOMYELINATING EGR2, MPZ HP:0009830 Peripheral neuropathy ITM ITM 17.02.2009
+MIM:605253 NEUROPATHY, CONGENITAL HYPOMYELINATING EGR2, MPZ HP:0001291 Abnormality of the cranial nerves IEA IEA 17.02.2009
+MIM:605253 NEUROPATHY, CONGENITAL HYPOMYELINATING EGR2, MPZ HP:0003577 Congenital onset IEA IEA 17.02.2009
+MIM:605253 NEUROPATHY, CONGENITAL HYPOMYELINATING EGR2, MPZ HP:0003693 Distal amyotrophy ITM ITM 17.02.2009
+MIM:605253 NEUROPATHY, CONGENITAL HYPOMYELINATING EGR2, MPZ HP:0003431 Decreased motor nerve conduction velocity PCS PCS Severe MIM:605253 probinson 13.03.2012
+MIM:605253 NEUROPATHY, CONGENITAL HYPOMYELINATING EGR2, MPZ HP:0007182 Peripheral hypomyelination PCS PCS Severe MIM:605253 probinson 13.03.2012
+MIM:605253 NEUROPATHY, CONGENITAL HYPOMYELINATING EGR2, MPZ HP:0003484 Upper limb muscle weakness PCS PCS Late MIM:605253 probinson 13.03.2012
+MIM:605253 NEUROPATHY, CONGENITAL HYPOMYELINATING EGR2, MPZ HP:0003383 Onion bulb formation PCS PCS MIM:605253 probinson 13.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-605588.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-605588.tab 2012-03-12 19:57:44 UTC (rev 4191)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-605588.tab 2012-03-13 07:04:16 UTC (rev 4192)
@@ -3,7 +3,6 @@
MIM:605588 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 MIM:150330 LAMIN A/C LMNA HP:0001265 Hyporeflexia IEA IEA 17.02.2009
MIM:605588 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 MIM:150330 LAMIN A/C LMNA HP:0001284 Areflexia IEA IEA 17.02.2009
MIM:605588 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 MIM:150330 LAMIN A/C LMNA HP:0001425 Heterogeneous ITM ITM 17.02.2009
-MIM:605588 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 MIM:150330 LAMIN A/C LMNA HP:0001455 ITM ITM 17.02.2009
MIM:605588 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 MIM:150330 LAMIN A/C LMNA HP:0001761 Pes cavus IEA IEA 17.02.2009
MIM:605588 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 MIM:150330 LAMIN A/C LMNA HP:0002934 Distal limb muscle atrophy due to peripheral neuropathy IEA IEA 17.02.2009
MIM:605588 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 MIM:150330 LAMIN A/C LMNA HP:0002935 Distal limb muscle weakness due to peripheral neuropathy IEA IEA 17.02.2009
@@ -11,12 +10,12 @@
MIM:605588 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 MIM:150330 LAMIN A/C LMNA HP:0003376 Steppage gait IEA IEA 17.02.2009
MIM:605588 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 MIM:150330 LAMIN A/C LMNA HP:0003377 Foot drop IEA IEA 17.02.2009
MIM:605588 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 MIM:150330 LAMIN A/C LMNA HP:0003378 Axonal degeneration/regeneration IEA IEA 17.02.2009
-MIM:605588 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 MIM:150330 LAMIN A/C LMNA HP:0003384 Axonal atrophy IEA IEA 17.02.2009
+MIM:605588 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 MIM:150330 LAMIN A/C LMNA HP:0003384 Peripheral axonal atrophy IEA IEA 17.02.2009
MIM:605588 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 MIM:150330 LAMIN A/C LMNA HP:0003380 Decreased number of peripheral myelinated nerve fibers IEA IEA 17.02.2009
MIM:605588 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 MIM:150330 LAMIN A/C LMNA HP:0003383 Onion bulb formation IEA IEA 17.02.2009
MIM:605588 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 MIM:150330 LAMIN A/C LMNA HP:0002751 Kyphoscoliosis IEA IEA 17.02.2009
-MIM:605588 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 MIM:150330 LAMIN A/C LMNA HP:0003431 Decreased motor nerve conduction velocity (NCV) PCS PCS Mild MIM:605588 probinson 17.02.2009
+MIM:605588 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 MIM:150330 LAMIN A/C LMNA HP:0003431 Decreased motor nerve conduction velocity PCS PCS Mild MIM:605588 probinson 17.02.2009
MIM:605588 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 MIM:150330 LAMIN A/C LMNA HP:0003475 Proximal muscle involvement may occur IEA IEA 17.02.2009
MIM:605588 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 MIM:150330 LAMIN A/C LMNA HP:0003477 Peripheral axonal neuropathy ITM ITM 17.02.2009
-MIM:605588 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 MIM:150330 LAMIN A/C LMNA HP:0003484 Upper limb involvement may occur later IEA IEA 17.02.2009
MIM:605588 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 MIM:150330 LAMIN A/C LMNA HP:0003590 Adolescent onset IEA IEA 17.02.2009
+MIM:605588 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 MIM:150330 LAMIN A/C LMNA HP:0003484 Upper limb muscle weakness IEA IEA Late MIM:605588 probinson 13.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-607677.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-607677.tab 2012-03-12 19:57:44 UTC (rev 4191)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-607677.tab 2012-03-13 07:04:16 UTC (rev 4192)
@@ -1,15 +1,14 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:607677 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I MIM:159440 MPZ HP:0000006 IEA 17.02.2009
-MIM:607677 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I MIM:159440 MPZ HP:0001265 IEA 17.02.2009
-MIM:607677 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I MIM:159440 MPZ HP:0001284 IEA 17.02.2009
-MIM:607677 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I MIM:159440 MPZ HP:0001425 ITM 17.02.2009
-MIM:607677 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I MIM:159440 MPZ HP:0001761 IEA 17.02.2009
-MIM:607677 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I MIM:159440 MPZ HP:0002934 IEA 17.02.2009
-MIM:607677 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I MIM:159440 MPZ HP:0002935 IEA 17.02.2009
-MIM:607677 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I MIM:159440 MPZ HP:0002936 FMA:30327 HP:0003474 IEA 17.02.2009
-MIM:607677 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I MIM:159440 MPZ HP:0003376 IEA 17.02.2009
-MIM:607677 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I MIM:159440 MPZ HP:0003378 IEA 17.02.2009
-MIM:607677 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I MIM:159440 MPZ HP:0003386 IEA 17.02.2009
-MIM:607677 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I MIM:159440 MPZ HP:0003484 IEA 17.02.2009
-MIM:607677 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I MIM:159440 MPZ HP:0003497 FMA:7182 HP:0002460 ITM 17.02.2009
-MIM:607677 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I MIM:159440 MPZ HP:0003693 _:distal_muscle PATO:0001623 ITM 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
+MIM:607677 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:607677 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0001265 Hyporeflexia IEA IEA 17.02.2009
+MIM:607677 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0001284 Areflexia IEA IEA 17.02.2009
+MIM:607677 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0001425 Heterogeneous ITM ITM 17.02.2009
+MIM:607677 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0001761 Pes cavus IEA IEA 17.02.2009
+MIM:607677 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0002934 Distal limb muscle atrophy due to peripheral neuropathy IEA IEA 17.02.2009
+MIM:607677 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0002935 Distal limb muscle weakness due to peripheral neuropathy IEA IEA 17.02.2009
+MIM:607677 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0002936 Distal sensory impairment IEA IEA 17.02.2009
+MIM:607677 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0003376 Steppage gait IEA IEA 17.02.2009
+MIM:607677 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0003378 Axonal degeneration/regeneration IEA IEA 17.02.2009
+MIM:607677 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0003380 Decreased number of peripheral myelinated nerve fibers IEA IEA 17.02.2009
+MIM:607677 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0003693 Distal amyotrophy ITM ITM 17.02.2009
+MIM:607677 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0003484 Upper limb muscle weakness IEA IEA Late MIM:607677 probinson 13.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-607678.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-607678.tab 2012-03-12 19:57:44 UTC (rev 4191)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-607678.tab 2012-03-13 07:04:16 UTC (rev 4192)
@@ -1,13 +1,9 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:607678 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D MIM:129010 EGR2 HP:0000006 IEA 17.02.2009
-MIM:607678 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D MIM:129010 EGR2 HP:0000760 IEA 17.02.2009
-MIM:607678 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D MIM:129010 EGR2 HP:0001425 ITM 17.02.2009
-MIM:607678 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D MIM:129010 EGR2 HP:0002934 IEA 17.02.2009
-MIM:607678 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D MIM:129010 EGR2 HP:0002935 IEA 17.02.2009
-MIM:607678 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D MIM:129010 EGR2 HP:0003376 IEA 17.02.2009
-MIM:607678 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D MIM:129010 EGR2 HP:0003377 IEA 17.02.2009
-MIM:607678 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D MIM:129010 EGR2 HP:0003484 IEA 17.02.2009
-MIM:607678 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D MIM:129010 EGR2 HP:0003497 FMA:7182 HP:0002460 ITM 17.02.2009
-MIM:607678 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D MIM:129010 EGR2 HP:0003589 IEA 17.02.2009
-MIM:607678 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D MIM:129010 EGR2 HP:0003693 _:distal_muscle PATO:0001623 ITM 17.02.2009
-MIM:607678 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D MIM:129010 EGR2 HP:0003814 IEA 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
+MIM:607678 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D MIM:129010 EARLY GROWTH RESPONSE 2 EGR2 HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:607678 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D MIM:129010 EARLY GROWTH RESPONSE 2 EGR2 HP:0003431 Decreased motor nerve conduction velocity IEA IEA 17.02.2009
+MIM:607678 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D MIM:129010 EARLY GROWTH RESPONSE 2 EGR2 HP:0002934 Distal limb muscle atrophy due to peripheral neuropathy IEA IEA 17.02.2009
+MIM:607678 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D MIM:129010 EARLY GROWTH RESPONSE 2 EGR2 HP:0002935 Distal limb muscle weakness due to peripheral neuropathy IEA IEA 17.02.2009
+MIM:607678 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D MIM:129010 EARLY GROWTH RESPONSE 2 EGR2 HP:0003376 Steppage gait IEA IEA 17.02.2009
+MIM:607678 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D MIM:129010 EARLY GROWTH RESPONSE 2 EGR2 HP:0003377 Foot drop IEA IEA 17.02.2009
+MIM:607678 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D MIM:129010 EARLY GROWTH RESPONSE 2 EGR2 HP:0003484 Upper limb muscle weakness IEA IEA Late MIM:607678 probinson 17.02.2009
+MIM:607678 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D MIM:129010 EARLY GROWTH RESPONSE 2 EGR2 HP:0003621 Juvenile onset IEA IEA 17.02.2009
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-607791.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-607791.tab 2012-03-12 19:57:44 UTC (rev 4191)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-607791.tab 2012-03-13 07:04:16 UTC (rev 4192)
@@ -1,14 +1,13 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:607791 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D MIM:159440 MPZ HP:0000006 IEA 17.02.2009
-MIM:607791 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D MIM:159440 MPZ HP:0001265 IEA 17.02.2009
-MIM:607791 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D MIM:159440 MPZ HP:0001284 IEA 17.02.2009
-MIM:607791 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D MIM:159440 MPZ HP:0001425 ITM 17.02.2009
-MIM:607791 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D MIM:159440 MPZ HP:0002934 IEA 17.02.2009
-MIM:607791 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D MIM:159440 MPZ HP:0002935 IEA 17.02.2009
-MIM:607791 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D MIM:159440 MPZ HP:0002936 FMA:30327 HP:0003474 IEA 17.02.2009
-MIM:607791 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D MIM:159440 MPZ HP:0003378 IEA 17.02.2009
-MIM:607791 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D MIM:159440 MPZ HP:0003481 IEA 17.02.2009
-MIM:607791 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D MIM:159440 MPZ HP:0003484 IEA 17.02.2009
-MIM:607791 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D MIM:159440 MPZ HP:0003497 FMA:7182 HP:0002460 ITM 17.02.2009
-MIM:607791 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D MIM:159440 MPZ HP:0003693 _:distal_muscle PATO:0001623 ITM 17.02.2009
-MIM:607791 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D MIM:159440 MPZ HP:0007107 ITM 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
+MIM:607791 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:607791 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0001265 Hyporeflexia IEA IEA 17.02.2009
+MIM:607791 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0001284 Areflexia IEA IEA 17.02.2009
+MIM:607791 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0001425 Heterogeneous ITM ITM 17.02.2009
+MIM:607791 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0002934 Distal limb muscle atrophy due to peripheral neuropathy IEA IEA 17.02.2009
+MIM:607791 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0002935 Distal limb muscle weakness due to peripheral neuropathy IEA IEA 17.02.2009
+MIM:607791 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0002936 Distal sensory impairment IEA IEA 17.02.2009
+MIM:607791 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0003378 Axonal degeneration/regeneration IEA IEA 17.02.2009
+MIM:607791 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0003481 Segmental peripheral demyelination/remyelination IEA IEA 17.02.2009
+MIM:607791 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0003693 Distal amyotrophy ITM ITM 17.02.2009
+MIM:607791 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0007107 Segmental peripheral demyelination ITM ITM 17.02.2009
+MIM:607791 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D MIM:159440 MYELIN PROTEIN ZERO MPZ HP:0003484 Upper limb muscle weakness IEA IEA Late MIM:607791 probinson 13.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-608323.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-608323.tab 2012-03-12 19:57:44 UTC (rev 4191)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-608323.tab 2012-03-13 07:04:16 UTC (rev 4192)
@@ -1,11 +1,8 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:608323 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C MIM:603623 YARS HP:0000006 IEA 17.02.2009
-MIM:608323 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C MIM:603623 YARS HP:0001760 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:608323 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C MIM:603623 YARS HP:0002934 IEA 17.02.2009
-MIM:608323 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C MIM:603623 YARS HP:0002935 IEA 17.02.2009
-MIM:608323 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C MIM:603623 YARS HP:0002936 FMA:30327 HP:0003474 IEA 17.02.2009
-MIM:608323 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C MIM:603623 YARS HP:0003450 IEA 17.02.2009
-MIM:608323 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C MIM:603623 YARS HP:0003484 IEA 17.02.2009
-MIM:608323 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C MIM:603623 YARS HP:0003497 FMA:7182 HP:0002460 ITM 17.02.2009
-MIM:608323 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C MIM:603623 YARS HP:0003674 ITM 17.02.2009
-MIM:608323 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C MIM:603623 YARS HP:0003693 _:distal_muscle PATO:0001623 ITM 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
+MIM:608323 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C MIM:603623 TYROSYL-tRNA SYNTHETASE YARS HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:608323 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C MIM:603623 TYROSYL-tRNA SYNTHETASE YARS HP:0001760 Abnormality of the feet IEA IEA 17.02.2009
+MIM:608323 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C MIM:603623 TYROSYL-tRNA SYNTHETASE YARS HP:0002934 Distal limb muscle atrophy due to peripheral neuropathy IEA IEA 17.02.2009
+MIM:608323 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C MIM:603623 TYROSYL-tRNA SYNTHETASE YARS HP:0002935 Distal limb muscle weakness due to peripheral neuropathy IEA IEA 17.02.2009
+MIM:608323 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C MIM:603623 TYROSYL-tRNA SYNTHETASE YARS HP:0002936 Distal sensory impairment IEA IEA 17.02.2009
+MIM:608323 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C MIM:603623 TYROSYL-tRNA SYNTHETASE YARS HP:0003450 Axonal regeneration IEA IEA 17.02.2009
+MIM:608323 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C MIM:603623 TYROSYL-tRNA SYNTHETASE YARS HP:0003484 Upper limb muscle weakness IEA IEA Late MIM:608323 probinson 13.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-609311.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-609311.tab 2012-03-12 19:57:44 UTC (rev 4191)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-609311.tab 2012-03-13 07:04:16 UTC (rev 4192)
@@ -1,19 +1,19 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H MIM:611104 FGD4 HP:0000007 IEA 17.02.2009
-MIM:609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H MIM:611104 FGD4 HP:0000760 IEA 17.02.2009
-MIM:609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H MIM:611104 FGD4 HP:0001265 IEA 17.02.2009
-MIM:609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H MIM:611104 FGD4 HP:0001270 IEA 17.02.2009
-MIM:609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H MIM:611104 FGD4 HP:0001284 IEA 17.02.2009
-MIM:609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H MIM:611104 FGD4 HP:0001425 ITM 17.02.2009
-MIM:609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H MIM:611104 FGD4 HP:0001761 IEA 17.02.2009
-MIM:609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H MIM:611104 FGD4 HP:0001762 IEA 17.02.2009
-MIM:609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H MIM:611104 FGD4 HP:0002515 IEA 17.02.2009
-MIM:609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H MIM:611104 FGD4 HP:0002650 PATO:0002049 IEA PATO:0001869 17.02.2009
-MIM:609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H MIM:611104 FGD4 HP:0002936 FMA:30327 HP:0003474 IEA 17.02.2009
-MIM:609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H MIM:611104 FGD4 HP:0003380 IEA 17.02.2009
-MIM:609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H MIM:611104 FGD4 HP:0003381 ITM 17.02.2009
-MIM:609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H MIM:611104 FGD4 HP:0003383 IEA 17.02.2009
-MIM:609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H MIM:611104 FGD4 HP:0003442 IEA 17.02.2009
-MIM:609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H MIM:611104 FGD4 HP:0003484 IEA 17.02.2009
-MIM:609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H MIM:611104 FGD4 HP:0003485 IEA 17.02.2009
-MIM:609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H MIM:611104 FGD4 HP:0003667 IEA 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
+MIM:609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H MIM:611104 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 4 FGD4 HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H MIM:611104 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 4 FGD4 HP:0003431 Decreased motor nerve conduction velocity IEA IEA 17.02.2009
+MIM:609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H MIM:611104 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 4 FGD4 HP:0001265 Hyporeflexia IEA IEA 17.02.2009
+MIM:609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H MIM:611104 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 4 FGD4 HP:0001270 Motor delay IEA IEA 17.02.2009
+MIM:609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H MIM:611104 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 4 FGD4 HP:0001284 Areflexia IEA IEA 17.02.2009
+MIM:609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H MIM:611104 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 4 FGD4 HP:0001425 Heterogeneous ITM ITM 17.02.2009
+MIM:609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H MIM:611104 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 4 FGD4 HP:0001761 Pes cavus IEA IEA 17.02.2009
+MIM:609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H MIM:611104 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 4 FGD4 HP:0001762 Talipes equinovarus IEA IEA 17.02.2009
+MIM:609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H MIM:611104 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 4 FGD4 HP:0002515 Waddling gait IEA IEA 17.02.2009
+MIM:609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H MIM:611104 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 4 FGD4 HP:0002650 Scoliosis IEA IEA 17.02.2009
+MIM:609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H MIM:611104 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 4 FGD4 HP:0002936 Distal sensory impairment IEA IEA 17.02.2009
+MIM:609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H MIM:611104 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 4 FGD4 HP:0003380 Decreased number of peripheral myelinated nerve fibers IEA IEA 17.02.2009
+MIM:609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H MIM:611104 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 4 FGD4 HP:0003381 Demyelination ITM ITM 17.02.2009
+MIM:609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H MIM:611104 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 4 FGD4 HP:0003383 Onion bulb formation IEA IEA 17.02.2009
+MIM:609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H MIM:611104 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 4 FGD4 HP:0003442 Distal lower limb muscle atrophy due to peripheral neuropathy IEA IEA 17.02.2009
+MIM:609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H MIM:611104 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 4 FGD4 HP:0003485 Distal lower limb muscle weakness due to peripheral neuropathy IEA IEA 17.02.2009
+MIM:609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H MIM:611104 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 4 FGD4 HP:0003484 Upper limb muscle weakness IEA IEA Late MIM:609311 probinson 13.03.2012
+MIM:609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H MIM:611104 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 4 FGD4 HP:0003593 Infantile onset IEA IEA MIM:609311 probinson 13.03.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-182960.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-182960.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-182960.tab 2012-03-13 07:04:16 UTC (rev 4192)
@@ -0,0 +1,13 @@
+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:182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I HP:0001276 Hypertonia IEA IEA 17.02.2009
+MIM:182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I HP:0001761 Pes cavus IEA IEA 17.02.2009
+MIM:182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I HP:0001765 Hammertoe IEA IEA 17.02.2009
+MIM:182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I HP:0003446 Chronic sural axonal neuropathy IEA IEA 17.02.2009
+MIM:182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I HP:0003484 Upper limb involvement may occur later IEA IEA 17.02.2009
+MIM:182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I HP:0003487 Babinski sign IEA IEA 17.02.2009
+MIM:182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I HP:0003676 Progressive disorder IEA IEA 17.02.2009
+MIM:182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I HP:0002460 Distal muscle weakness PCS PCS MIM:182960 probinson 13.03.2012
+MIM:182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I HP:0003693 Distal amyotrophy PCS PCS MIM:182960 probinson 13.03.2012
+MIM:182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I HP:0007144 Decreased vibration sense in feet PCS PCS MIM:182960 probinson 13.03.2012
+MIM:182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I HP:0003484 Upper limb involvement may occur later PCS PCS Late MIM:182960 probinson 13.03.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-302801.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-302801.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-302801.tab 2012-03-13 07:04:16 UTC (rev 4192)
@@ -0,0 +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:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0003431 Decreased motor nerve conduction velocity IEA IEA 17.02.2009
+MIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0001284 Areflexia IEA IEA 17.02.2009
+MIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0001419 X-linked recessive inheritance IEA IEA 17.02.2009
+MIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0001761 Pes cavus IEA IEA 17.02.2009
+MIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0002935 Distal limb muscle weakness due to peripheral neuropathy IEA IEA 17.02.2009
+MIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0003376 Steppage gait IEA IEA 17.02.2009
+MIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0003377 Foot drop IEA IEA 17.02.2009
+MIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0002936 Distal sensory impairment IEA IEA Mild 17.02.2009
+MIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0003482 EMG: axonal abnormality IEA IEA 17.02.2009
+MIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0003593 Infantile onset IEA IEA 17.02.2009
+MIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0009830 Peripheral neuropathy IEA IEA 17.02.2009
+MIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0001249 Intellectual disability IEA IEA Rare MIM:302901 probinson 13.03.2012
+MIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0002934 Distal limb muscle atrophy due to peripheral neuropathy IEA IEA Rare MIM:302901 probinson 13.03.2012
+MIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 HP:0003484 Upper limb muscle weakness IEA IEA Late MIM:302901 probinson 13.03.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-302802.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-302802.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-302802.tab 2012-03-13 07:04:16 UTC (rev 4192)
@@ -0,0 +1,12 @@
+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:302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 HP:0000762 Decreased nerve conduction velocity IEA IEA 17.02.2009
+MIM:302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 HP:0001284 Areflexia IEA IEA 17.02.2009
+MIM:302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 HP:0001419 X-linked recessive inheritance IEA IEA 17.02.2009
+MIM:302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 HP:0001761 Pes cavus IEA IEA 17.02.2009
+MIM:302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 HP:0002934 Distal limb muscle atrophy due to peripheral neuropathy IEA IEA 17.02.2009
+MIM:302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 HP:0002935 Distal limb muscle weakness due to peripheral neuropathy IEA IEA 17.02.2009
+MIM:302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 HP:0003376 Steppage gait IEA IEA 17.02.2009
+MIM:302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 HP:0003377 Foot drop IEA IEA 17.02.2009
+MIM:302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 HP:0002936 Distal sensory impairment IEA IEA 17.02.2009
+MIM:302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 HP:0003482 EMG: axonal abnormality IEA IEA 17.02.2009
+MIM:302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 HP:0003484 Upper limb muscle weakness IEA IEA Late MIM:302802 probinson 13.03.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-601596.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-601596.tab (rev 0)
+++ phenotype-commons...
[truncated message content] |
|
From: <pr...@us...> - 2012-03-15 07:33:01
|
Revision: 4193
http://obo.svn.sourceforge.net/obo/?rev=4193&view=rev
Author: probins
Date: 2012-03-15 07:32:53 +0000 (Thu, 15 Mar 2012)
Log Message:
-----------
Yet more corrected annotation files
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/MIM-118230.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-118301.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-600794.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-601472.tab
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-118230.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-118301.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-600794.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-601472.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-118230.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-118230.tab 2012-03-13 07:04:16 UTC (rev 4192)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-118230.tab 2012-03-15 07:32:53 UTC (rev 4193)
@@ -1,30 +1,26 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0000006 IEA 17.02.2009
-MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0000470 FMA:7155 PATO:0000574 IEA 17.02.2009
-MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0000774 FMA:9576 PATO:0000599 IEA 17.02.2009
-MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0000975 IEA 17.02.2009
-MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0001026 IEA 17.02.2009
-MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0001270 IEA 17.02.2009
-MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0001301 IEA 17.02.2009
-MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0001316 IEA 17.02.2009
-MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0001333 IEA 17.02.2009
-MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0001371 FMA:9721 PATO:0000574 IEA 17.02.2009
-MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0001600 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0001668 IEA 17.02.2009
-MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0001761 IEA 17.02.2009
-MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0001999 IEA 17.02.2009
-MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0002013 IEA 17.02.2009
-MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0002018 IEA 17.02.2009
-MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0002028 FMA:64183 PATO:0001548 IEA 17.02.2009
-MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0002309 ITM 17.02.2009
-MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0003009 IEA 17.02.2009
-MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0003091 IEA 17.02.2009
-MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0003324 FMA:72954 PATO:0001779 ITM 17.02.2009
-MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0003360 IEA 17.02.2009
-MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0003381 ITM 17.02.2009
-MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0003447 ITM 17.02.2009
-MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0003576 IEA 17.02.2009
-MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0004875 IEA 17.02.2009
-MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0005853 IEA 17.02.2009
-MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0008939 IEA 17.02.2009
-MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0009049 ITM 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
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0000470 Short neck IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0000774 Narrow chest IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0000975 Hyperhidrosis IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0001026 Penetrating foot ulcers IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0001270 Motor delay IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0001301 Chronic sensorineural polyneuropathy IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0001315 Reduced reflexes IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0001333 Abnormality of the sensory nervous system IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0001371 Contractures IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0001600 Abnormality of the larynx IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0001668 Heart block IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0001761 Pes cavus IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0001999 Abnormal facial shape IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0002013 Vomiting IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0002018 Nausea IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0002028 Chronic diarrhea IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0003009 Enhanced neurotoxicity of vincristine IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0003091 Trophic limb changes IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0003324 Generalized muscle weakness ITM ITM 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0003593 Infantile onset IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0004875 Neonatal inspiratory stridor IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0005853 Congenital foot contraction deformities IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0009049 Peroneal muscle atrophy IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0003447 Axonal loss IEA IEA 15.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-118301.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-118301.tab 2012-03-13 07:04:16 UTC (rev 4192)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-118301.tab 2012-03-15 07:32:53 UTC (rev 4193)
@@ -1,28 +1,24 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0000508 IEA 17.02.2009
-MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0000726 IEA 17.02.2009
-MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0000975 IEA 17.02.2009
-MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0001026 IEA 17.02.2009
-MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0001278 IEA 17.02.2009
-MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0001300 IEA 17.02.2009
-MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0001301 IEA 17.02.2009
-MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0001316 IEA 17.02.2009
-MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0001333 IEA 17.02.2009
-MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0001347 IEA 17.02.2009
-MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0001668 IEA 17.02.2009
-MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0001761 IEA 17.02.2009
-MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0001939 GO:0008152 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0002013 IEA 17.02.2009
-MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0002018 IEA 17.02.2009
-MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0002028 FMA:64183 PATO:0001548 IEA 17.02.2009
-MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0002309 ITM 17.02.2009
-MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0003009 IEA 17.02.2009
-MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0003091 IEA 17.02.2009
-MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0003324 FMA:72954 PATO:0001779 ITM 17.02.2009
-MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0003360 IEA 17.02.2009
-MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0003381 ITM 17.02.2009
-MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0003447 ITM 17.02.2009
-MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0007110 IEA 17.02.2009
-MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0007136 ITM 17.02.2009
-MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0008939 IEA 17.02.2009
-MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0009049 ITM 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
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0000508 Ptosis IEA IEA 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0000726 Dementia IEA IEA 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0000975 Hyperhidrosis IEA IEA 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0001026 Penetrating foot ulcers IEA IEA 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0001278 Orthostatic hypotension IEA IEA 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0001300 Parkinsonism IEA IEA 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0001301 Chronic sensorineural polyneuropathy IEA IEA 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0001315 Reduced reflexes IEA IEA 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0000763 Sensory neuropathy PCS PCS MIM:118301 probinson 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0001347 Hyperreflexia IEA IEA 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0001668 Heart block IEA IEA 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0001761 Pes cavus IEA IEA 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0000762 Decreased nerve conduction velocity IEA IEA Mild MIM:118301 probinson 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0002013 Vomiting IEA IEA 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0002018 Nausea IEA IEA 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0002028 Chronic diarrhea IEA IEA 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0003009 Enhanced neurotoxicity of vincristine IEA IEA 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0003091 Trophic limb changes IEA IEA 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0007110 Central hypoventilation IEA IEA 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0009049 Peroneal muscle atrophy IEA IEA 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0002398 Degeneration of anterior horn cells PCS PCS MIM:118301 probinson 15.03.2012
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0003447 Axonal loss PCS PCS MIM:118301 probinson 15.03.2012
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0003693 Distal amyotrophy PCS PCS MIM:118301 probinson 15.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-600794.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-600794.tab 2012-03-13 07:04:16 UTC (rev 4192)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-600794.tab 2012-03-15 07:32:53 UTC (rev 4193)
@@ -1,19 +1,18 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0000006 IEA 17.02.2009
-MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0001761 ITM 17.02.2009
-MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0001763 ITM 17.02.2009
-MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0001765 ITM 17.02.2009
-MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0002534 PATO:0001779 ITM 17.02.2009
-MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0002934 IEA 17.02.2009
-MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0002935 IEA 17.02.2009
-MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0003392 IEA 17.02.2009
-MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0003393 IEA 17.02.2009
-MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0003426 IEA 17.02.2009
-MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0003427 FMA:64916 PATO:0001779 IEA 17.02.2009
-MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0003435 IEA 17.02.2009
-MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0003471 IEA 17.02.2009
-MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0003497 FMA:7182 HP:0002460 ITM 17.02.2009
-MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0003628 IEA 17.02.2009
-MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0003677 IEA 17.02.2009
-MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0003693 _:distal_muscle PATO:0001623 ITM 17.02.2009
-MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0006820 IEA 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
+MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0001761 Pes cavus ITM ITM 17.02.2009
+MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0001763 Pes planus ITM ITM 17.02.2009
+MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0001765 Hammertoe ITM ITM 17.02.2009
+MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0002934 Distal limb muscle atrophy due to peripheral neuropathy IEA IEA 17.02.2009
+MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0002935 Distal limb muscle weakness due to peripheral neuropathy IEA IEA 17.02.2009
+MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0003392 First dorsal interossei muscle weakness IEA IEA 17.02.2009
+MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0003393 Thenar muscle atrophy IEA IEA 17.02.2009
+MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0003426 First dorsal interossei muscle atrophy IEA IEA 17.02.2009
+MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0003427 Thenar muscle weakness IEA IEA 17.02.2009
+MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0003435 Cold-induced hand cramps IEA IEA 17.02.2009
+MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0003471 Upper limb weakness and atrophy predominates IEA IEA 17.02.2009
+MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0003590 Adolescent onset IEA IEA 17.02.2009
+MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0003677 Slow progression IEA IEA 17.02.2009
+MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0003693 Distal amyotrophy ITM ITM 17.02.2009
+MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0001347 Hyperreflexia IEA IEA Rare MIM:600794 probinson 15.03.2012
+MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0003484 Upper limb muscle weakness IEA IEA 15.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-601472.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-601472.tab 2012-03-13 07:04:16 UTC (rev 4192)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-601472.tab 2012-03-15 07:32:53 UTC (rev 4193)
@@ -1,20 +1,19 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GARS HP:0000006 IEA 17.02.2009
-MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GARS HP:0001265 IEA 17.02.2009
-MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GARS HP:0001761 IEA 17.02.2009
-MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GARS HP:0001765 IEA 17.02.2009
-MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GARS HP:0002534 PATO:0001779 ITM 17.02.2009
-MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GARS HP:0002650 PATO:0002049 IEA PATO:0001869 17.02.2009
-MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GARS HP:0002934 IEA 17.02.2009
-MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GARS HP:0002935 IEA 17.02.2009
-MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GARS HP:0002936 FMA:30327 HP:0003474 IEA 17.02.2009
-MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GARS HP:0003392 IEA 17.02.2009
-MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GARS HP:0003393 IEA 17.02.2009
-MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GARS HP:0003426 IEA 17.02.2009
-MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GARS HP:0003427 FMA:64916 PATO:0001779 IEA 17.02.2009
-MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GARS HP:0003435 IEA 17.02.2009
-MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GARS HP:0003471 IEA 17.02.2009
-MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GARS HP:0003497 FMA:7182 HP:0002460 ITM 17.02.2009
-MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GARS HP:0003628 IEA 17.02.2009
-MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GARS HP:0003677 IEA 17.02.2009
-MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GARS HP:0003693 _:distal_muscle PATO:0001623 ITM 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
+MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GLYCYL-tRNA SYNTHETASE GARS HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GLYCYL-tRNA SYNTHETASE GARS HP:0001265 Hyporeflexia IEA IEA 17.02.2009
+MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GLYCYL-tRNA SYNTHETASE GARS HP:0001761 Pes cavus IEA IEA 17.02.2009
+MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GLYCYL-tRNA SYNTHETASE GARS HP:0001765 Hammertoe IEA IEA 17.02.2009
+MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GLYCYL-tRNA SYNTHETASE GARS HP:0002650 Scoliosis IEA IEA 17.02.2009
+MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GLYCYL-tRNA SYNTHETASE GARS HP:0002934 Distal limb muscle atrophy due to peripheral neuropathy IEA IEA 17.02.2009
+MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GLYCYL-tRNA SYNTHETASE GARS HP:0002935 Distal limb muscle weakness due to peripheral neuropathy IEA IEA 17.02.2009
+MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GLYCYL-tRNA SYNTHETASE GARS HP:0002936 Distal sensory impairment IEA IEA 17.02.2009
+MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GLYCYL-tRNA SYNTHETASE GARS HP:0003392 First dorsal interossei muscle weakness IEA IEA 17.02.2009
+MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GLYCYL-tRNA SYNTHETASE GARS HP:0003393 Thenar muscle atrophy IEA IEA 17.02.2009
+MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GLYCYL-tRNA SYNTHETASE GARS HP:0003426 First dorsal interossei muscle atrophy IEA IEA 17.02.2009
+MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GLYCYL-tRNA SYNTHETASE GARS HP:0003427 Thenar muscle weakness IEA IEA 17.02.2009
+MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GLYCYL-tRNA SYNTHETASE GARS HP:0003435 Cold-induced hand cramps IEA IEA 17.02.2009
+MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GLYCYL-tRNA SYNTHETASE GARS HP:0003471 Upper limb weakness and atrophy predominates IEA IEA MIM:601472 probinson 17.02.2009
+MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GLYCYL-tRNA SYNTHETASE GARS HP:0003590 Adolescent onset IEA IEA 17.02.2009
+MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GLYCYL-tRNA SYNTHETASE GARS HP:0003677 Slow progression IEA IEA 17.02.2009
+MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GLYCYL-tRNA SYNTHETASE GARS HP:0003693 Distal amyotrophy ITM ITM 17.02.2009
+MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GLYCYL-tRNA SYNTHETASE GARS HP:0003484 Upper limb muscle weakness PCS PCS MIM:601472 probinson 15.03.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-118230.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-118230.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-118230.tab 2012-03-15 07:32:53 UTC (rev 4193)
@@ -0,0 +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
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0000470 Short neck IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0000774 Narrow chest IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0000975 Hyperhidrosis IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0001026 Penetrating foot ulcers IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0001270 Motor delay IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0001301 Chronic sensorineural polyneuropathy IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0001315 Reduced reflexes IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0001333 Abnormality of the sensory nervous system IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0001371 Contractures IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0001600 Abnormality of the larynx IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0001668 Heart block IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0001761 Pes cavus IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0001999 Abnormal facial shape IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0002013 Vomiting IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0002018 Nausea IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0002028 Chronic diarrhea IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0003009 Enhanced neurotoxicity of vincristine IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0003091 Trophic limb changes IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0003324 Generalized muscle weakness ITM ITM 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0003593 Infantile onset IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0004875 Neonatal inspiratory stridor IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0005853 Congenital foot contraction deformities IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0009049 Peroneal muscle atrophy IEA IEA 17.02.2009
+MIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0003447 Axonal loss IEA IEA 15.03.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-118301.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-118301.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-118301.tab 2012-03-15 07:32:53 UTC (rev 4193)
@@ -0,0 +1,24 @@
+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:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0000508 Ptosis IEA IEA 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0000726 Dementia IEA IEA 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0000975 Hyperhidrosis IEA IEA 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0001026 Penetrating foot ulcers IEA IEA 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0001278 Orthostatic hypotension IEA IEA 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0001300 Parkinsonism IEA IEA 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0001301 Chronic sensorineural polyneuropathy IEA IEA 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0001315 Reduced reflexes IEA IEA 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0000763 Sensory neuropathy PCS PCS MIM:118301 probinson 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0001347 Hyperreflexia IEA IEA 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0001668 Heart block IEA IEA 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0001761 Pes cavus IEA IEA 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0000762 Decreased nerve conduction velocity IEA IEA Mild MIM:118301 probinson 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0002013 Vomiting IEA IEA 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0002018 Nausea IEA IEA 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0002028 Chronic diarrhea IEA IEA 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0003009 Enhanced neurotoxicity of vincristine IEA IEA 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0003091 Trophic limb changes IEA IEA 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0007110 Central hypoventilation IEA IEA 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0009049 Peroneal muscle atrophy IEA IEA 17.02.2009
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0002398 Degeneration of anterior horn cells PCS PCS MIM:118301 probinson 15.03.2012
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0003447 Axonal loss PCS PCS MIM:118301 probinson 15.03.2012
+MIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0003693 Distal amyotrophy PCS PCS MIM:118301 probinson 15.03.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-600794.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-600794.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-600794.tab 2012-03-15 07:32:53 UTC (rev 4193)
@@ -0,0 +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
+MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0001761 Pes cavus ITM ITM 17.02.2009
+MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0001763 Pes planus ITM ITM 17.02.2009
+MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0001765 Hammertoe ITM ITM 17.02.2009
+MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0002934 Distal limb muscle atrophy due to peripheral neuropathy IEA IEA 17.02.2009
+MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0002935 Distal limb muscle weakness due to peripheral neuropathy IEA IEA 17.02.2009
+MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0003392 First dorsal interossei muscle weakness IEA IEA 17.02.2009
+MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0003393 Thenar muscle atrophy IEA IEA 17.02.2009
+MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0003426 First dorsal interossei muscle atrophy IEA IEA 17.02.2009
+MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0003427 Thenar muscle weakness IEA IEA 17.02.2009
+MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0003435 Cold-induced hand cramps IEA IEA 17.02.2009
+MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0003471 Upper limb weakness and atrophy predominates IEA IEA 17.02.2009
+MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0003590 Adolescent onset IEA IEA 17.02.2009
+MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0003677 Slow progression IEA IEA 17.02.2009
+MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0003693 Distal amyotrophy ITM ITM 17.02.2009
+MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0001347 Hyperreflexia IEA IEA Rare MIM:600794 probinson 15.03.2012
+MIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V BSCL2, GARS HP:0003484 Upper limb muscle weakness IEA IEA 15.03.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-601472.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-601472.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-601472.tab 2012-03-15 07:32:53 UTC (rev 4193)
@@ -0,0 +1,19 @@
+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:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GLYCYL-tRNA SYNTHETASE GARS HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GLYCYL-tRNA SYNTHETASE GARS HP:0001265 Hyporeflexia IEA IEA 17.02.2009
+MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GLYCYL-tRNA SYNTHETASE GARS HP:0001761 Pes cavus IEA IEA 17.02.2009
+MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GLYCYL-tRNA SYNTHETASE GARS HP:0001765 Hammertoe IEA IEA 17.02.2009
+MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GLYCYL-tRNA SYNTHETASE GARS HP:0002650 Scoliosis IEA IEA 17.02.2009
+MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GLYCYL-tRNA SYNTHETASE GARS HP:0002934 Distal limb muscle atrophy due to peripheral neuropathy IEA IEA 17.02.2009
+MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GLYCYL-tRNA SYNTHETASE GARS HP:0002935 Distal limb muscle weakness due to peripheral neuropathy IEA IEA 17.02.2009
+MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GLYCYL-tRNA SYNTHETASE GARS HP:0002936 Distal sensory impairment IEA IEA 17.02.2009
+MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GLYCYL-tRNA SYNTHETASE GARS HP:0003392 First dorsal interossei muscle weakness IEA IEA 17.02.2009
+MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GLYCYL-tRNA SYNTHETASE GARS HP:0003393 Thenar muscle atrophy IEA IEA 17.02.2009
+MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GLYCYL-tRNA SYNTHETASE GARS HP:0003426 First dorsal interossei muscle atrophy IEA IEA 17.02.2009
+MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GLYCYL-tRNA SYNTHETASE GARS HP:0003427 Thenar muscle weakness IEA IEA 17.02.2009
+MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GLYCYL-tRNA SYNTHETASE GARS HP:0003435 Cold-induced hand cramps IEA IEA 17.02.2009
+MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GLYCYL-tRNA SYNTHETASE GARS HP:0003471 Upper limb weakness and atrophy predominates IEA IEA MIM:601472 probinson 17.02.2009
+MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GLYCYL-tRNA SYNTHETASE GARS HP:0003590 Adolescent onset IEA IEA 17.02.2009
+MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GLYCYL-tRNA SYNTHETASE GARS HP:0003677 Slow progression IEA IEA 17.02.2009
+MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GLYCYL-tRNA SYNTHETASE GARS HP:0003693 Distal amyotrophy ITM ITM 17.02.2009
+MIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D MIM:600287 GLYCYL-tRNA SYNTHETASE GARS HP:0003484 Upper limb muscle weakness PCS PCS MIM:601472 probinson 15.03.2012
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <pr...@us...> - 2012-03-16 17:29:04
|
Revision: 4196
http://obo.svn.sourceforge.net/obo/?rev=4196&view=rev
Author: probins
Date: 2012-03-16 17:28:56 +0000 (Fri, 16 Mar 2012)
Log Message:
-----------
More corrected annotations
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/MIM-179800.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-206900.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-207800.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-210900.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-251950.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-259270.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-278100.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-251950.tab
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-179800.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-206900.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-207800.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-210900.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-259270.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-278100.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-179800.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-179800.tab 2012-03-16 07:31:52 UTC (rev 4195)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-179800.tab 2012-03-16 17:28:56 UTC (rev 4196)
@@ -1,10 +1,10 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT MIM:109270 SLC4A1 HP:0000121 IEA 17.02.2009
-MIM:179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT MIM:109270 SLC4A1 HP:0001517 GO:0040007 PATO:0001511 IEA 17.02.2009
-MIM:179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT MIM:109270 SLC4A1 HP:0001947 IEA 17.02.2009
-MIM:179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT MIM:109270 SLC4A1 HP:0002749 FMA:5018 PATO:0001779 IEA PATO:0000396 17.02.2009
-MIM:179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT MIM:109270 SLC4A1 HP:0002756 HP:0002662 IEA PATO:0001869 17.02.2009
-MIM:179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT MIM:109270 SLC4A1 HP:0002900 FMA:62970 PATO:0001163 CHEBI:26216 ITM 17.02.2009
-MIM:179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT MIM:109270 SLC4A1 HP:0002901 FMA:62970 PATO:0001163 CHEBI:22984 IEA 17.02.2009
-MIM:179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT MIM:109270 SLC4A1 HP:0003011 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT MIM:109270 SLC4A1 HP:0003768 IEA 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
+MIM:179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT MIM:109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1 SLC4A1 HP:0000121 Nephrocalcinosis IEA IEA 17.02.2009
+MIM:179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT MIM:109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1 SLC4A1 HP:0001947 Renal tubular acidosis IEA IEA 17.02.2009
+MIM:179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT MIM:109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1 SLC4A1 HP:0002749 Osteomalacia IEA IEA 17.02.2009
+MIM:179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT MIM:109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1 SLC4A1 HP:0002756 Pathologic fracture IEA IEA 17.02.2009
+MIM:179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT MIM:109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1 SLC4A1 HP:0002900 Hypokalemia ITM ITM 17.02.2009
+MIM:179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT MIM:109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1 SLC4A1 HP:0002901 Hypocalcemia IEA IEA 17.02.2009
+MIM:179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT MIM:109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1 SLC4A1 HP:0003011 Abnormality of musculature IEA IEA 17.02.2009
+MIM:179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT MIM:109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1 SLC4A1 HP:0003768 Periodic paralysis IEA IEA 17.02.2009
+MIM:179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT MIM:109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1 SLC4A1 HP:0008897 Postnatal growth retardation PCS PCS MIM:179800 probinson 16.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-206900.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-206900.tab 2012-03-16 07:31:52 UTC (rev 4195)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-206900.tab 2012-03-16 17:28:56 UTC (rev 4196)
@@ -1,35 +1,34 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SOX2 HP:0000006 IEA 17.02.2009
-MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SOX2 HP:0000028 IEA 17.02.2009
-MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SOX2 HP:0000044 IEA 17.02.2009
-MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SOX2 HP:0000047 FMA:19650 PATO:0001920 IEA 17.02.2009
-MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SOX2 HP:0000054 FMA:9707 PATO:0000587 IEA 17.02.2009
-MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SOX2 HP:0000252 FMA:46565 PATO:0000587 IEA 17.02.2009
-MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SOX2 HP:0000254 FMA:63864 PATO:0000001 IEA 17.02.2009
-MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SOX2 HP:0000407 IEA 17.02.2009
-MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SOX2 HP:0000568 IEA 17.02.2009
-MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SOX2 HP:0000589 FMA:54448 PATO:0000609 IEA 17.02.2009
-MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SOX2 HP:0000609 FMA:50863 PATO:0000645 IEA 17.02.2009
-MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SOX2 HP:0000881 PATO:0001557 FMA:7574 IEA 17.02.2009
-MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SOX2 HP:0000902 FMA:7574 PATO:0000642 FMA:7574 IEA 17.02.2009
-MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SOX2 HP:0001252 FMA:30316 PATO:0001619 IEA PATO:0001869 17.02.2009
-MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SOX2 HP:0001255 IEA 17.02.2009
-MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SOX2 HP:0001264 IEA 17.02.2009
-MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SOX2 HP:0001274 PATO:0001557 FMA:86464 IEA 17.02.2009
-MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SOX2 HP:0001328 IEA 17.02.2009
-MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SOX2 HP:0001485 IEA 17.02.2009
-MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SOX2 HP:0001509 FMA:20394 PATO:0000569 IEA 17.02.2009
-MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SOX2 HP:0001514 GO:0040007 PATO:0000911 IEA 17.02.2009
-MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SOX2 HP:0001517 GO:0040007 PATO:0001511 ITM 17.02.2009
-MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SOX2 HP:0001629 FMA:7133 PATO:0000609 IEA 17.02.2009
-MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SOX2 HP:0001643 IEA 17.02.2009
-MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SOX2 HP:0002032 FMA:7131 PATO:0001819 IEA 17.02.2009
-MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SOX2 HP:0002079 FMA:86464 PATO:0000645 IEA 17.02.2009
-MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SOX2 HP:0002444 IEA 17.02.2009
-MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SOX2 HP:0002510 IEA 17.02.2009
-MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SOX2 HP:0002937 IEA 17.02.2009
-MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SOX2 HP:0002948 FMA:9914 PATO:0000642 FMA:9914 IEA 17.02.2009
-MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SOX2 HP:0003316 IEA 17.02.2009
-MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SOX2 HP:0005815 FMA:7574 PATO:0000470 IEA 17.02.2009
-MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SOX2 HP:0008238 IEA 17.02.2009
-MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SOX2 HP:0008431 FMA:71515 PATO:0000587 IEA 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
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0000028 Cryptorchidism IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0000044 Hypogonadotrophic hypogonadism IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0000047 Hypospadias IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0000054 Micropenis IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0000252 Microcephaly IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0002007 Frontal bossing IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0000407 Sensorineural hearing impairment IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0000568 Microphthalmos IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0000589 Coloboma IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0000609 Optic nerve hypoplasia IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0000921 Missing ribs IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0000902 Rib fusion IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0001252 Muscular hypotonia IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0001263 Global developmental delay IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0001264 Spastic diplegia IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0001274 Agenesis of corpus callosum IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0001328 Specific learning disability IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0001485 Anophthalmia, clinical IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0004322 Short stature IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0008897 Postnatal growth retardation IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0001629 Ventricular septal defect IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0001643 Patent ductus arteriosus IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0002032 Esophageal atresia IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0002079 Hypoplasia of the corpus callosum IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0002444 Hypothalamic hamartoma IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0002510 Spastic tetraplegia IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0002937 Hemivertebrae IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0002948 Vertebral fusion IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0003316 Butterfly vertebrae IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0005815 Supernumerary ribs IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0008238 Anterior pituitary hypoplasia IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0008417 Vertebral hypoplasia IEA IEA 17.02.2009
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-207800.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-207800.tab 2012-03-16 07:31:52 UTC (rev 4195)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-207800.tab 2012-03-16 17:28:56 UTC (rev 4196)
@@ -1,16 +1,15 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:207800 ARGININEMIA MIM:608313 ARG1 HP:0000007 IEA 17.02.2009
-MIM:207800 ARGININEMIA MIM:608313 ARG1 HP:0000737 IEA 17.02.2009
-MIM:207800 ARGININEMIA MIM:608313 ARG1 HP:0000752 IEA 17.02.2009
-MIM:207800 ARGININEMIA MIM:608313 ARG1 HP:0001249 IEA 17.02.2009
-MIM:207800 ARGININEMIA MIM:608313 ARG1 HP:0001250 IEA 17.02.2009
-MIM:207800 ARGININEMIA MIM:608313 ARG1 HP:0001263 IEA 17.02.2009
-MIM:207800 ARGININEMIA MIM:608313 ARG1 HP:0001462 IEA 17.02.2009
-MIM:207800 ARGININEMIA MIM:608313 ARG1 HP:0001517 GO:0040007 PATO:0001511 IEA 17.02.2009
-MIM:207800 ARGININEMIA MIM:608313 ARG1 HP:0001987 IEA 17.02.2009
-MIM:207800 ARGININEMIA MIM:608313 ARG1 HP:0002013 IEA 17.02.2009
-MIM:207800 ARGININEMIA MIM:608313 ARG1 HP:0002039 IEA 17.02.2009
-MIM:207800 ARGININEMIA MIM:608313 ARG1 HP:0002478 IEA 17.02.2009
-MIM:207800 ARGININEMIA MIM:608313 ARG1 HP:0003131 ITM 17.02.2009
-MIM:207800 ARGININEMIA MIM:608313 ARG1 HP:0003218 IEA 17.02.2009
-MIM:207800 ARGININEMIA MIM:608313 ARG1 HP:0008339 IEA 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
+MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0000737 Irritability IEA IEA 17.02.2009
+MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0000752 Hyperactivity IEA IEA 17.02.2009
+MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0001249 Intellectual disability IEA IEA 17.02.2009
+MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0001250 Seizures IEA IEA 17.02.2009
+MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0001263 Global developmental delay IEA IEA 17.02.2009
+MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0008897 Postnatal growth retardation IEA IEA 17.02.2009
+MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0001987 Hyperammonemia IEA IEA 17.02.2009
+MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0002013 Vomiting IEA IEA 17.02.2009
+MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0002039 Anorexia IEA IEA 17.02.2009
+MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0002478 Progressive spastic quadriplegia IEA IEA 17.02.2009
+MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0003131 Cystinuria ITM ITM 17.02.2009
+MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0003218 Oroticaciduria IEA IEA 17.02.2009
+MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0008339 Diaminoaciduria IEA IEA 17.02.2009
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-210900.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-210900.tab 2012-03-16 07:31:52 UTC (rev 4195)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-210900.tab 2012-03-16 17:28:56 UTC (rev 4196)
@@ -1,34 +1,34 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:210900 BLOOM SYNDROME MIM:604610 BLM HP:0000007 IEA 17.02.2009
-MIM:210900 BLOOM SYNDROME MIM:604610 BLM HP:0000027 IEA 17.02.2009
-MIM:210900 BLOOM SYNDROME MIM:604610 BLM HP:0000028 IEA 17.02.2009
-MIM:210900 BLOOM SYNDROME MIM:604610 BLM HP:0000252 FMA:46565 PATO:0000587 IEA 17.02.2009
-MIM:210900 BLOOM SYNDROME MIM:604610 BLM HP:0000268 IEA 17.02.2009
-MIM:210900 BLOOM SYNDROME MIM:604610 BLM HP:0000272 FMA:52747 PATO:0000645 IEA 17.02.2009
-MIM:210900 BLOOM SYNDROME MIM:604610 BLM HP:0000275 FMA:24728 PATO:0000599 IEA 17.02.2009
-MIM:210900 BLOOM SYNDROME MIM:604610 BLM HP:0000412 FMA:52781 PATO:0001482 IEA 17.02.2009
-MIM:210900 BLOOM SYNDROME MIM:604610 BLM HP:0000448 FMA:46472 PATO:0001482 IEA 17.02.2009
-MIM:210900 BLOOM SYNDROME MIM:604610 BLM HP:0000690 IEA 17.02.2009
-MIM:210900 BLOOM SYNDROME MIM:604610 BLM HP:0000868 IEA 17.02.2009
-MIM:210900 BLOOM SYNDROME MIM:604610 BLM HP:0000957 IEA 17.02.2009
-MIM:210900 BLOOM SYNDROME MIM:604610 BLM HP:0000992 FMA:54448 PATO:0000927 IEA 17.02.2009
-MIM:210900 BLOOM SYNDROME MIM:604610 BLM HP:0000998 IEA 17.02.2009
-MIM:210900 BLOOM SYNDROME MIM:604610 BLM HP:0001159 FMA:85518 PATO:0000642 FMA:85518 IEA 17.02.2009
-MIM:210900 BLOOM SYNDROME MIM:604610 BLM HP:0001161 FMA:85518 PATO:0000470 IEA 17.02.2009
-MIM:210900 BLOOM SYNDROME MIM:604610 BLM HP:0001256 ITM 17.02.2009
-MIM:210900 BLOOM SYNDROME MIM:604610 BLM HP:0001328 IEA 17.02.2009
-MIM:210900 BLOOM SYNDROME MIM:604610 BLM HP:0001515 IEA 17.02.2009
-MIM:210900 BLOOM SYNDROME MIM:604610 BLM HP:0001517 GO:0040007 PATO:0001511 IEA 17.02.2009
-MIM:210900 BLOOM SYNDROME MIM:604610 BLM HP:0001620 ITM 17.02.2009
-MIM:210900 BLOOM SYNDROME MIM:604610 BLM HP:0001909 MPATH:336 PATO:0000912 IEA 17.02.2009
-MIM:210900 BLOOM SYNDROME MIM:604610 BLM HP:0002110 IEA 17.02.2009
-MIM:210900 BLOOM SYNDROME MIM:604610 BLM HP:0002665 MPATH:343 PATO:0000912 IEA 17.02.2009
-MIM:210900 BLOOM SYNDROME MIM:604610 BLM HP:0002720 FMA:62874 PATO:0001997 ITM 17.02.2009
-MIM:210900 BLOOM SYNDROME MIM:604610 BLM HP:0002860 IEA 17.02.2009
-MIM:210900 BLOOM SYNDROME MIM:604610 BLM HP:0003220 IEA 17.02.2009
-MIM:210900 BLOOM SYNDROME MIM:604610 BLM HP:0004209 FMA:24949 HP:0001157 IEA 17.02.2009
-MIM:210900 BLOOM SYNDROME MIM:604610 BLM HP:0005585 IEA 17.02.2009
-MIM:210900 BLOOM SYNDROME MIM:604610 BLM HP:0005590 IEA 17.02.2009
-MIM:210900 BLOOM SYNDROME MIM:604610 BLM HP:0005598 IEA 17.02.2009
-MIM:210900 BLOOM SYNDROME MIM:604610 BLM HP:0005978 IEA 17.02.2009
-MIM:210900 BLOOM SYNDROME MIM:604610 BLM HP:0006528 IEA 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
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0000027 Azoospermia IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0000028 Cryptorchidism IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0000252 Microcephaly IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0000268 Dolichocephaly IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0000272 Malar hypoplasia IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0000275 Narrow face IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0000412 Prominent ears IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0000448 Prominent nose IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0000690 Agenesis of maxillary lateral incisor IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0000868 Decreased fertility in females IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0000957 Cafe-au-lait spot IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0000992 Cutaneous photosensitivity IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0000998 Hypertrichosis IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0001159 Syndactyly IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0001161 Polydactyly (hands) IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0001256 Intellectual disability, mild ITM ITM 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0001328 Specific learning disability IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0001511 Intrauterine growth retardation IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0008897 Postnatal growth retardation IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0001620 High pitched voice ITM ITM 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0001909 Leukemia IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0002110 Bronchiectasis IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0002665 Lymphoma IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0002720 Decreased IgA ITM ITM 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0002860 Squamous cell carcinoma IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0003220 Abnormality of chromosome stability IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0004209 Clinodactyly of the 5th finger IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0005585 Spotty hyperpigmentation IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0005590 Spotty hypopigmentation IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0005598 Facial telangiectasia in butterfly midface distribution IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0005978 Type II diabetes mellitus IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0006528 Chronic lung disease IEA IEA 17.02.2009
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-251950.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-251950.tab 2012-03-16 07:31:52 UTC (rev 4195)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-251950.tab 2012-03-16 17:28:56 UTC (rev 4196)
@@ -1,10 +1,10 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add'l Entity Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Sex Negation ID Negation Name Description Orthologs Pub Date Created
-MIM:251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS HP:0000007 Autosomal recessive inheritance IEA 17.02.2009
-MIM:251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS HP:0001250 Seizures IEA 17.02.2009
-MIM:251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS HP:0001269 Hemiparesis IEA 17.02.2009
-MIM:251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS HP:0001517 Growth failure GO:0040007 growth PATO:0001511 non-functional IEA 17.02.2009
-MIM:251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS HP:0002572 Episodic vomiting IEA 17.02.2009
-MIM:251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS HP:0003255 IEA 17.02.2009
-MIM:251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS HP:0003348 Hyperalaninemia PCS OMIM:251950 17.02.2009
-MIM:251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS HP:0008504 Moderate neural deafness IEA 17.02.2009
-MIM:251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS HP:0008979 Muscle weakness, severe FMA:5022 Muscle organ PATO:0001779 decreased strength IEA PATO:0000396 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
+MIM:251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS HP:0001250 Seizures IEA IEA 17.02.2009
+MIM:251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS HP:0001269 Hemiparesis IEA IEA 17.02.2009
+MIM:251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS HP:0001517 Growth failure IEA IEA 17.02.2009
+MIM:251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS HP:0002572 Episodic vomiting IEA IEA 17.02.2009
+MIM:251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS HP:0008897 Postnatal growth retardation IEA IEA 17.02.2009
+MIM:251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS HP:0003348 Hyperalaninemia PCS PCS OMIM:251950 17.02.2009
+MIM:251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS HP:0008504 Moderate sensorineural hearing impairment IEA IEA 17.02.2009
+MIM:251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS HP:0008979 Muscle weakness, severe IEA IEA 17.02.2009
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-259270.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-259270.tab 2012-03-16 07:31:52 UTC (rev 4195)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-259270.tab 2012-03-16 17:28:56 UTC (rev 4196)
@@ -1,6 +1,8 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:259270 OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI HP:0000007 IEA 17.02.2009
-MIM:259270 OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI HP:0000124 ITM 17.02.2009
-MIM:259270 OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI HP:0001517 GO:0040007 PATO:0001511 IEA 17.02.2009
-MIM:259270 OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI HP:0002644 PATO:0000001 ITM PATO:0000460 17.02.2009
-MIM:259270 OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI HP:0009381 FMA:9666 PATO:0000645 ITM 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
+MIM:259270 OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:259270 OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI HP:0001510 Growth delay IEA IEA 17.02.2009
+MIM:259270 OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI HP:0002644 Abnormality of the pelvis PCS PCS MIM:259270 probinson 17.02.2009
+MIM:259270 OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI HP:0009381 Hypoplastic/small fingers PCS PCS MIM:259270 probinson 16.03.2012
+MIM:259270 OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI HP:0004701 Hypoplasia of the toes PCS PCS MIM:259270 probinson 16.03.2012
+MIM:259270 OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI HP:0002205 Recurrent respiratory infections PCS PCS MIM:259270 probinson 16.03.2012
+MIM:259270 OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI HP:0011314 Abnormality of long bone morphology PCS PCS MIM:259270 probinson 16.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-278100.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-278100.tab 2012-03-16 07:31:52 UTC (rev 4195)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-278100.tab 2012-03-16 17:28:56 UTC (rev 4196)
@@ -1,7 +1,8 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:278100 WOLMAN DISEASE WITH HYPOLIPOPROTEINEMIA AND ACANTHOCYTOSIS HP:0000007 IEA 17.02.2009
-MIM:278100 WOLMAN DISEASE WITH HYPOLIPOPROTEINEMIA AND ACANTHOCYTOSIS HP:0000924 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:278100 WOLMAN DISEASE WITH HYPOLIPOPROTEINEMIA AND ACANTHOCYTOSIS HP:0001517 GO:0040007 PATO:0001511 IEA 17.02.2009
-MIM:278100 WOLMAN DISEASE WITH HYPOLIPOPROTEINEMIA AND ACANTHOCYTOSIS HP:0002013 IEA 17.02.2009
-MIM:278100 WOLMAN DISEASE WITH HYPOLIPOPROTEINEMIA AND ACANTHOCYTOSIS HP:0002024 GO:0050892 PATO:0000001 ITM PATO:0000460 17.02.2009
-MIM:278100 WOLMAN DISEASE WITH HYPOLIPOPROTEINEMIA AND ACANTHOCYTOSIS HP:0008181 ITM 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
+MIM:278100 WOLMAN DISEASE WITH HYPOLIPOPROTEINEMIA AND ACANTHOCYTOSIS HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:278100 WOLMAN DISEASE WITH HYPOLIPOPROTEINEMIA AND ACANTHOCYTOSIS HP:0001510 Growth delay IEA IEA 17.02.2009
+MIM:278100 WOLMAN DISEASE WITH HYPOLIPOPROTEINEMIA AND ACANTHOCYTOSIS HP:0002013 Vomiting IEA IEA 17.02.2009
+MIM:278100 WOLMAN DISEASE WITH HYPOLIPOPROTEINEMIA AND ACANTHOCYTOSIS HP:0002630 Fat malabsorption PCS PCS MIM:278100 probinson 17.02.2009
+MIM:278100 WOLMAN DISEASE WITH HYPOLIPOPROTEINEMIA AND ACANTHOCYTOSIS HP:0010512 Adrenal calcification PCS PCS MIM:278100 probinson 16.03.2012
+MIM:278100 WOLMAN DISEASE WITH HYPOLIPOPROTEINEMIA AND ACANTHOCYTOSIS HP:0010981 Hypolipoproteinemia PCS PCS MIM:278100 probinson 16.03.2012
+MIM:278100 WOLMAN DISEASE WITH HYPOLIPOPROTEINEMIA AND ACANTHOCYTOSIS HP:0001927 Acanthocytosis PCS PCS MIM:278100 probinson 16.03.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-179800.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-179800.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-179800.tab 2012-03-16 17:28:56 UTC (rev 4196)
@@ -0,0 +1,10 @@
+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:179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT MIM:109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1 SLC4A1 HP:0000121 Nephrocalcinosis IEA IEA 17.02.2009
+MIM:179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT MIM:109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1 SLC4A1 HP:0001947 Renal tubular acidosis IEA IEA 17.02.2009
+MIM:179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT MIM:109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1 SLC4A1 HP:0002749 Osteomalacia IEA IEA 17.02.2009
+MIM:179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT MIM:109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1 SLC4A1 HP:0002756 Pathologic fracture IEA IEA 17.02.2009
+MIM:179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT MIM:109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1 SLC4A1 HP:0002900 Hypokalemia ITM ITM 17.02.2009
+MIM:179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT MIM:109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1 SLC4A1 HP:0002901 Hypocalcemia IEA IEA 17.02.2009
+MIM:179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT MIM:109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1 SLC4A1 HP:0003011 Abnormality of musculature IEA IEA 17.02.2009
+MIM:179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT MIM:109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1 SLC4A1 HP:0003768 Periodic paralysis IEA IEA 17.02.2009
+MIM:179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT MIM:109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1 SLC4A1 HP:0008897 Postnatal growth retardation PCS PCS MIM:179800 probinson 16.03.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-206900.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-206900.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-206900.tab 2012-03-16 17:28:56 UTC (rev 4196)
@@ -0,0 +1,34 @@
+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:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0000028 Cryptorchidism IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0000044 Hypogonadotrophic hypogonadism IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0000047 Hypospadias IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0000054 Micropenis IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0000252 Microcephaly IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0002007 Frontal bossing IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0000407 Sensorineural hearing impairment IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0000568 Microphthalmos IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0000589 Coloboma IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0000609 Optic nerve hypoplasia IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0000921 Missing ribs IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0000902 Rib fusion IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0001252 Muscular hypotonia IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0001263 Global developmental delay IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0001264 Spastic diplegia IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0001274 Agenesis of corpus callosum IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0001328 Specific learning disability IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0001485 Anophthalmia, clinical IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0004322 Short stature IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0008897 Postnatal growth retardation IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0001629 Ventricular septal defect IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0001643 Patent ductus arteriosus IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0002032 Esophageal atresia IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0002079 Hypoplasia of the corpus callosum IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0002444 Hypothalamic hamartoma IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0002510 Spastic tetraplegia IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0002937 Hemivertebrae IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0002948 Vertebral fusion IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0003316 Butterfly vertebrae IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0005815 Supernumerary ribs IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0008238 Anterior pituitary hypoplasia IEA IEA 17.02.2009
+MIM:206900 MICROPHTHALMIA, SYNDROMIC 3 MIM:184429 SRY-BOX 2 SOX2 HP:0008417 Vertebral hypoplasia IEA IEA 17.02.2009
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-207800.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-207800.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-207800.tab 2012-03-16 17:28:56 UTC (rev 4196)
@@ -0,0 +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:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0000737 Irritability IEA IEA 17.02.2009
+MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0000752 Hyperactivity IEA IEA 17.02.2009
+MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0001249 Intellectual disability IEA IEA 17.02.2009
+MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0001250 Seizures IEA IEA 17.02.2009
+MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0001263 Global developmental delay IEA IEA 17.02.2009
+MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0008897 Postnatal growth retardation IEA IEA 17.02.2009
+MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0001987 Hyperammonemia IEA IEA 17.02.2009
+MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0002013 Vomiting IEA IEA 17.02.2009
+MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0002039 Anorexia IEA IEA 17.02.2009
+MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0002478 Progressive spastic quadriplegia IEA IEA 17.02.2009
+MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0003131 Cystinuria ITM ITM 17.02.2009
+MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0003218 Oroticaciduria IEA IEA 17.02.2009
+MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0008339 Diaminoaciduria IEA IEA 17.02.2009
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-210900.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-210900.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-210900.tab 2012-03-16 17:28:56 UTC (rev 4196)
@@ -0,0 +1,34 @@
+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:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0000027 Azoospermia IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0000028 Cryptorchidism IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0000252 Microcephaly IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0000268 Dolichocephaly IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0000272 Malar hypoplasia IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0000275 Narrow face IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0000412 Prominent ears IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0000448 Prominent nose IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0000690 Agenesis of maxillary lateral incisor IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0000868 Decreased fertility in females IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0000957 Cafe-au-lait spot IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0000992 Cutaneous photosensitivity IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0000998 Hypertrichosis IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0001159 Syndactyly IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0001161 Polydactyly (hands) IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0001256 Intellectual disability, mild ITM ITM 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0001328 Specific learning disability IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0001511 Intrauterine growth retardation IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0008897 Postnatal growth retardation IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0001620 High pitched voice ITM ITM 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0001909 Leukemia IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0002110 Bronchiectasis IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0002665 Lymphoma IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0002720 Decreased IgA ITM ITM 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0002860 Squamous cell carcinoma IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0003220 Abnormality of chromosome stability IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0004209 Clinodactyly of the 5th finger IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0005585 Spotty hyperpigmentation IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0005590 Spotty hypopigmentation IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0005598 Facial telangiectasia in butterfly midface distribution IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0005978 Type II diabetes mellitus IEA IEA 17.02.2009
+MIM:210900 BLOOM SYNDROME MIM:604610 RECQ PROTEIN-LIKE 3 BLM HP:0006528 Chronic lung disease IEA IEA 17.02.2009
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-251950.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-251950.tab 2012-03-16 07:31:52 UTC (rev 4195)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-251950.tab 2012-03-16 17:28:56 UTC (rev 4196)
@@ -1,10 +1,10 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add'l Entity Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Sex Negation ID Negation Name Description Orthologs Pub Date Created
-MIM:251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS HP:0000007 Autosomal recessive inheritance IEA 17.02.2009
-MIM:251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS HP:0001250 Seizures IEA 17.02.2009
-MIM:251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS HP:0001269 Hemiparesis IEA 17.02.2009
-MIM:251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS HP:0001517 Growth failure GO:0040007 growth PATO:0001511 non-functional IEA 17.02.2009
-MIM:251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS HP:0002572 Episodic vomiting IEA 17.02.2009
-MIM:251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS HP:0003255 IEA 17.02.2009
-MIM:251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS HP:0003348 Hyperalaninemia PCS OMIM:251950 17.02.2009
-MIM:251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS HP:0008504 Moderate neural deafness IEA 17.02.2009
-MIM:251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS HP:0008979 Muscle weakness, severe FMA:5022 Muscle organ PATO:0001779 decreased strength IEA PATO:0000396 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
+MIM:251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS HP:0001250 Seizures IEA IEA 17.02.2009
+MIM:251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS HP:0001269 Hemiparesis IEA IEA 17.02.2009
+MIM:251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS HP:0001517 Growth failure IEA IEA 17.02.2009
+MIM:251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS HP:0002572 Episodic vomiting IEA IEA 17.02.2009
+MIM:251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS HP:0008897 Postnatal growth retardation IEA IEA 17.02.2009
+MIM:251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS HP:0003348 Hyperalaninemia PCS PCS OMIM:251950 17.02.2009
+MIM:251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS HP:0008504 Moderate sensorineural hearing impairment IEA IEA 17.02.2009
+MIM:251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS HP:0008979 Muscle weakness, severe IEA IEA 17.02.2009
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-259270.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-259270.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-259270.tab 2012-03-16 17:28:56 UTC (rev 4196)
@@ -0,0 +1,8 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+MIM:259270 OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:259270 OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI HP:0001510 Growth delay IEA IEA 17.02.2009
+MIM:259270 OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI HP:0002644 Abnormality of the pelvis PCS PCS MIM:259270 probinson 17.02.2009
+MIM:259270 OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI HP:0009381 Hypoplastic/small fingers PCS PCS MIM:259270 probinson 16.03.2012
+MIM:259270 OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI HP:0004701 Hypoplasia of the toes PCS PCS MIM:259270 probinson 16.03.2012
+MIM:259270 OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI HP:0002205 Recurrent respiratory infections PCS PCS MIM:259270 probinson 16.03.2012
+MIM:259270 OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI HP:0011314 Abnormality of long bone morphology PCS PCS MIM:259270 probinson 16.03.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-278100.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-278100.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-278100.tab 2012-03-16 17:28:56 UTC (rev 4196)
@@ -0,0 +1,8 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+MIM:278100 WOLMAN DISEASE WITH HYPOLIPOPROTEINEMIA AND ACANTHOCYTOSIS HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:278100 WOLMAN DISEASE WITH HYPOLIPOPROTEINEMIA AND ACANTHOCYTOSIS HP:0001510 Growth delay IEA IEA 17.02.2009
+MIM:278100 WOLMAN DISEASE WITH HYPOLIPOPROTEINEMIA AND ACANTHOCYTOSIS HP:0002013 Vomiting IEA IEA 17.02.2009
+MIM:278100 WOLMAN DISEASE WITH HYPOLIPOPROTEINEMIA AND ACANTHOCYTOSIS HP:0002630 Fat malabsorption PCS PCS MIM:278100 probinson 17.02.2009
+MIM:278100 WOLMAN DISEASE WITH HYPOLIPOPROTEINEMIA AND ACANTHOCYTOSIS HP:0010512 Adrenal calcification PCS PCS MIM:278100 probinson 16.03.2012
+MIM:278100 WOLMAN DISEASE WITH HYPOLIPOPROTEINEMIA AND ACANTHOCYTOSIS HP:0010981 Hypolipoproteinemia PCS PCS MIM:278100 probinson 16.03.2012
+MIM:278100 WOLMAN DISEASE WITH HYPOLIPOPROTEINEMIA AND ACANTHOCYTOSIS HP:0001927 Acanthocytosis PCS PCS MIM:278100 probinson 16.03.2012
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
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From: <pr...@us...> - 2012-03-17 09:52:38
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Revision: 4197
http://obo.svn.sourceforge.net/obo/?rev=4197&view=rev
Author: probins
Date: 2012-03-17 09:52:29 +0000 (Sat, 17 Mar 2012)
Log Message:
-----------
New vorrected annotation files
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/MIM-102100.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-133540.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-210700.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-216400.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-216411.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-221790.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-236450.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-300067.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-309545.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-309900.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-314570.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-560000.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-601450.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-601979.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-608278.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-613675.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-216400.tab
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-102100.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-133540.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-210700.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-216411.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-221790.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-236450.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-300067.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-309545.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-309900.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-314570.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-560000.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-601450.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-601979.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-608278.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-613675.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-102100.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-102100.tab 2012-03-16 17:28:56 UTC (rev 4196)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-102100.tab 2012-03-17 09:52:29 UTC (rev 4197)
@@ -1,8 +1,9 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:102100 ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA HP:0000006 IEA 17.02.2009
-MIM:102100 ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA HP:0000271 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:102100 ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA HP:0000478 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:102100 ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA HP:0000977 FMA:7163 PATO:0000387 IEA 17.02.2009
-MIM:102100 ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA HP:0001176 FMA:9712 PATO:0000586 ITM 17.02.2009
-MIM:102100 ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA HP:0001527 IEA 17.02.2009
-MIM:102100 ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA HP:0002820 PATO:0000001 IEA 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
+MIM:102100 ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:102100 ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA HP:0000478 Abnormality of the eye IEA IEA 17.02.2009
+MIM:102100 ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA HP:0000977 Soft skin IEA IEA 17.02.2009
+MIM:102100 ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA HP:0001176 Large hands PCS PCS MIM:102100 probinson 17.03.2012
+MIM:102100 ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA HP:0000098 Tall stature PCS PCS MIM:102100 probinson 17.03.2012
+MIM:102100 ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA HP:0001176 Large hands PCS PCS MIM:102100 probinson 17.03.2012
+MIM:102100 ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA HP:0000303 Mandibular prognathia PCS PCS MIM:102100 probinson 17.03.2012
+MIM:102100 ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA HP:0010541 Cutis gyrata of scalp PCS PCS MIM:102100 probinson 17.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-133540.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-133540.tab 2012-03-16 17:28:56 UTC (rev 4196)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-133540.tab 2012-03-17 09:52:29 UTC (rev 4197)
@@ -1,71 +1,70 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0000007 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0000028 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0000054 FMA:9707 PATO:0000587 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0000083 FMA:7203 PATO:0001511 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0000093 FMA:12274 PATO:0002002 CHEBI:16541 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0000252 FMA:46565 PATO:0000587 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0000292 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0000303 FMA:46495 PATO:0001482 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0000335 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0000374 FMA:65132 HP:0000404 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0000377 FMA:52781 PATO:0000051 IEA PATO:0000460 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0000417 FMA:59518 PATO:0000592 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0000482 FMA:58238 PATO:0000587 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0000486 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0000515 FMA:58238 PATO:0000963 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0000518 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0000540 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0000568 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0000580 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0000633 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0000639 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0000648 FMA:50863 PATO:0001623 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0000670 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0000680 FMA:75151 HP:0000684 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0000684 PATO:0000502 ITM 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0000688 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0000689 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0000762 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0000822 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0000939 _:increased_bone_resorption_and__:decreased_osteogenesis IEA PATO:0001869 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0000958 FMA:7163 PATO:0001824 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0000970 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0000987 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0000992 FMA:54448 PATO:0000927 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0001000 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0001249 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0001250 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0001251 GO:0050881 PATO:0000770 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0001271 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0001337 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0001424 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0001511 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0001514 GO:0040007 PATO:0000911 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0001518 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0001525 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0001595 FMA:53667 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0001665 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0001744 FMA:7196 PATO:0000586 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0002059 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0002135 FMA:62514 PATO:0001447 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0002240 FMA:7197 PATO:0000586 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0002309 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0002343 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0002545 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0002684 FMA:52800 PATO:0000591 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0002808 PATO:0001468 IEA PATO:0001869 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0002866 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0003101 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0003130 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0003151 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0003224 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0003278 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0003469 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0003758 FMA:74315 PATO:0001999 FMA:74315 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0004334 FMA:7163 PATO:0001623 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0007346 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0007352 FMA:67944 PATO:0001447 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0007495 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0007676 FMA:58235 PATO:0000645 IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 ERCC6 HP:0010234 IEA 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
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000028 Cryptorchidism IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000054 Micropenis IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000083 Renal failure IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000093 Proteinuria IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000252 Microcephaly IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000292 Loss of facial adipose tissue IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000303 Mandibular prognathia IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000335 Wizened face IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000377 Abnormality of the external ear IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000417 Slender nose IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000482 Microcornea IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000486 Strabismus IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000515 Corneal opacity IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000518 Cataract IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000540 Hypermetropia IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000568 Microphthalmos IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000580 Pigmentary retinopathy IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000633 Decreased lacrimation IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000639 Nystagmus IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000648 Optic atrophy IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000670 Carious teeth IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000680 Delayed eruption of primary teeth IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000689 Dental malocclusion IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000762 Decreased nerve conduction velocity IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000822 Hypertension IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000939 Osteoporosis IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000958 Dry skin IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000970 Anhidrosis IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000987 Atypical scarring of skin IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000992 Cutaneous photosensitivity IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0001000 Abnormality of skin pigmentation IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0001249 Intellectual disability IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0001250 Seizures IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0001251 Ataxia IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0001271 Polyneuropathy IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0001337 Tremor IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0001424 Cachectic dwarfism IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0001511 Intrauterine growth retardation IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0001518 Small for gestational age IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0001525 Severe failure to thrive IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0001595 Abnormality of the hair IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0001665 Abnormality of cardiac conduction IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0001744 Splenomegaly IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0002059 Cerebral atrophy IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0002135 Basal ganglia calcification IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0002240 Hepatomegaly IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0002309 Weakness IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0002343 Normal pressure hydrocephalus IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0002545 Patchy demyelination of subcortical white matter IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0002684 Thickened calvaria IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0002808 Kyphosis IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0002866 Hypoplastic iliac wings IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0003130 Abnormal peripheral myelination IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0003151 Disturbed visual and brainstem auditory evoked responses indicative of CNS demyelination IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0003224 Increased cellular sensitivity to UV light IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0003278 Small, squared off pelvis IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0003469 Dysmyelination IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0003758 Reduced subcutaneous adipose tissue IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0004334 Dermal atrophy IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0007346 Subcortical white matter calcifications IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0007352 Cerebellar calcifications IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0007495 Prematurely aged appearance IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0007676 Hypoplasia of the iris IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0010234 Ivory epiphyses of the phalanges of the hand IEA IEA 17.02.2009
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000407 Sensorineural hearing impairment PCS PCS MIM:133540 probinson 17.03.2012
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000685 Hypoplasia of teeth PCS PCS MIM:133540 probinson 17.03.2012
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0008897 Postnatal growth retardation PCS PCS MIM:133540 probinson 17.03.2012
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0001376 Decreased mobility of joints PCS PCS MIM:133540 probinson 17.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-210700.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-210700.tab 2012-03-16 17:28:56 UTC (rev 4196)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-210700.tab 2012-03-17 09:52:29 UTC (rev 4197)
@@ -1,14 +1,14 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:210700 BIRD-HEADED DWARFISM, MONTREAL TYPE HP:0000007 IEA 17.02.2009
-MIM:210700 BIRD-HEADED DWARFISM, MONTREAL TYPE HP:0000028 IEA 17.02.2009
-MIM:210700 BIRD-HEADED DWARFISM, MONTREAL TYPE HP:0000275 FMA:24728 PATO:0000599 IEA 17.02.2009
-MIM:210700 BIRD-HEADED DWARFISM, MONTREAL TYPE HP:0000278 IEA 17.02.2009
-MIM:210700 BIRD-HEADED DWARFISM, MONTREAL TYPE HP:0000444 IEA 17.02.2009
-MIM:210700 BIRD-HEADED DWARFISM, MONTREAL TYPE HP:0000508 IEA 17.02.2009
-MIM:210700 BIRD-HEADED DWARFISM, MONTREAL TYPE HP:0001090 FMA:54448 PATO:0000586 IEA 17.02.2009
-MIM:210700 BIRD-HEADED DWARFISM, MONTREAL TYPE HP:0001249 IEA 17.02.2009
-MIM:210700 BIRD-HEADED DWARFISM, MONTREAL TYPE HP:0001322 FMA:50801 PATO:0000587 IEA 17.02.2009
-MIM:210700 BIRD-HEADED DWARFISM, MONTREAL TYPE HP:0002216 IEA 17.02.2009
-MIM:210700 BIRD-HEADED DWARFISM, MONTREAL TYPE HP:0002293 FMA:46494 HP:0001596 ITM 17.02.2009
-MIM:210700 BIRD-HEADED DWARFISM, MONTREAL TYPE HP:0007531 IEA 17.02.2009
-MIM:210700 BIRD-HEADED DWARFISM, MONTREAL TYPE HP:0008907 IEA 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
+MIM:210700 BIRD-HEADED DWARFISM, MONTREAL TYPE HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:210700 BIRD-HEADED DWARFISM, MONTREAL TYPE HP:0000028 Cryptorchidism IEA IEA 17.02.2009
+MIM:210700 BIRD-HEADED DWARFISM, MONTREAL TYPE HP:0000275 Narrow face IEA IEA 17.02.2009
+MIM:210700 BIRD-HEADED DWARFISM, MONTREAL TYPE HP:0000278 Retrognathia IEA IEA 17.02.2009
+MIM:210700 BIRD-HEADED DWARFISM, MONTREAL TYPE HP:0000444 Beaked nose IEA IEA 17.02.2009
+MIM:210700 BIRD-HEADED DWARFISM, MONTREAL TYPE HP:0000508 Ptosis IEA IEA 17.02.2009
+MIM:210700 BIRD-HEADED DWARFISM, MONTREAL TYPE HP:0001090 Large eyes IEA IEA 17.02.2009
+MIM:210700 BIRD-HEADED DWARFISM, MONTREAL TYPE HP:0001249 Intellectual disability IEA IEA 17.02.2009
+MIM:210700 BIRD-HEADED DWARFISM, MONTREAL TYPE HP:0001322 Brain very small IEA IEA 17.02.2009
+MIM:210700 BIRD-HEADED DWARFISM, MONTREAL TYPE HP:0002216 Premature graying of hair IEA IEA 17.02.2009
+MIM:210700 BIRD-HEADED DWARFISM, MONTREAL TYPE HP:0002293 Alopecia of scalp ITM ITM 17.02.2009
+MIM:210700 BIRD-HEADED DWARFISM, MONTREAL TYPE HP:0003510 Short stature, severe IEA IEA 17.02.2009
+MIM:210700 BIRD-HEADED DWARFISM, MONTREAL TYPE HP:0007605 Excessive wrinkling of palmar skin PCS PCS MIM:210700 probinson 17.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-216400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-216400.tab 2012-03-16 17:28:56 UTC (rev 4196)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-216400.tab 2012-03-17 09:52:29 UTC (rev 4197)
@@ -10,7 +10,7 @@
MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000303 Mandibular prognathia IEA IEA 17.02.2009
MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000335 Wizened face IEA IEA 17.02.2009
MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000407 Sensorineural hearing impairment IEA IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000377 Abnormality of the pinna IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000377 Abnormality of the external ear IEA IEA 17.02.2009
MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000417 Slender nose IEA IEA 17.02.2009
MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000486 Strabismus IEA IEA 17.02.2009
MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000515 Corneal opacity IEA IEA 17.02.2009
@@ -32,7 +32,7 @@
MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000958 Dry skin IEA IEA 17.02.2009
MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000970 Anhidrosis IEA IEA 17.02.2009
MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000987 Atypical scarring of skin IEA IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000992 Photosensitivity IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000992 Cutaneous photosensitivity IEA IEA 17.02.2009
MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0001000 Abnormality of skin pigmentation IEA IEA 17.02.2009
MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0001124 Salt and pepper retinal pigmentation IEA IEA 17.02.2009
MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0001249 Intellectual disability IEA IEA 17.02.2009
@@ -42,8 +42,7 @@
MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0001271 Polyneuropathy IEA IEA 17.02.2009
MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0001288 Gait disturbance IEA IEA 17.02.2009
MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0001337 Tremor IEA IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0001424 Cachectic dwarfism IEA IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0001511 Intrauterine growth restriction IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0001511 Intrauterine growth retardation IEA IEA 17.02.2009
MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0001665 Abnormality of cardiac conduction IEA IEA 17.02.2009
MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0001744 Splenomegaly IEA IEA 17.02.2009
MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0002059 Cerebral atrophy IEA IEA 17.02.2009
@@ -56,7 +55,7 @@
MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0002808 Kyphosis IEA IEA 17.02.2009
MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0002866 Hypoplastic iliac wings IEA IEA 17.02.2009
MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0001376 Decreased mobility of joints IEA IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0003130 Abnormal myelination in sural nerve biopsies IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0003130 Abnormal peripheral myelination IEA IEA 17.02.2009
MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0003151 Disturbed visual and brainstem auditory evoked responses indicative of CNS demyelination IEA IEA 17.02.2009
MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0003224 Increased cellular sensitivity to UV light IEA IEA 17.02.2009
MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0003278 Small, squared off pelvis IEA IEA 17.02.2009
@@ -64,5 +63,5 @@
MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0003469 Dysmyelination IEA IEA 17.02.2009
MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0003758 Reduced subcutaneous adipose tissue IEA IEA 17.02.2009
MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0007495 Prematurely aged appearance IEA IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0008850 Postnatal growth retardation, severe IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0008850 Severe postnatal growth retardation IEA IEA 17.02.2009
MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0010234 Ivory epiphyses of the phalanges of the hand IEA IEA 17.02.2009
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-216411.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-216411.tab 2012-03-16 17:28:56 UTC (rev 4196)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-216411.tab 2012-03-17 09:52:29 UTC (rev 4197)
@@ -1,28 +1,28 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0000007 IEA 17.02.2009
-MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0000093 FMA:12274 PATO:0002002 CHEBI:16541 IEA 17.02.2009
-MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0000096 FMA:15624 PATO:0001561 MPATH:184 IEA 17.02.2009
-MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0000252 FMA:46565 PATO:0000587 IEA 17.02.2009
-MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0000365 IEA 17.02.2009
-MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0000377 FMA:52781 PATO:0000051 IEA PATO:0000460 17.02.2009
-MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0000546 FMA:58301 PATO:0000639 IEA 17.02.2009
-MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0000648 FMA:50863 PATO:0001623 IEA 17.02.2009
-MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0000726 IEA 17.02.2009
-MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0000822 IEA 17.02.2009
-MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0000987 IEA 17.02.2009
-MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0001000 IEA 17.02.2009
-MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0001124 IEA 17.02.2009
-MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0001176 FMA:9712 PATO:0000586 ITM 17.02.2009
-MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0001249 IEA 17.02.2009
-MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0001288 IEA 17.02.2009
-MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0001371 FMA:9721 PATO:0000574 IEA 17.02.2009
-MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0001516 IEA 17.02.2009
-MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0002343 IEA 17.02.2009
-MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0002514 IEA 17.02.2009
-MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0002520 PATO:0000001 ITM PATO:0000460 17.02.2009
-MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0002820 PATO:0000001 IEA 17.02.2009
-MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0003130 IEA 17.02.2009
-MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0003151 IEA 17.02.2009
-MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0003357 IEA 17.02.2009
-MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0004334 FMA:7163 PATO:0001623 IEA 17.02.2009
-MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0007495 IEA 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
+MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0000093 Proteinuria IEA IEA 17.02.2009
+MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0000096 Glomerulosclerosis IEA IEA 17.02.2009
+MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0000252 Microcephaly IEA IEA 17.02.2009
+MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0000365 Hearing impairment IEA IEA 17.02.2009
+MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0000377 Abnormality of the external ear IEA IEA 17.02.2009
+MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0000546 Retinal degeneration IEA IEA 17.02.2009
+MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0000648 Optic atrophy IEA IEA 17.02.2009
+MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0000726 Dementia IEA IEA 17.02.2009
+MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0000822 Hypertension IEA IEA 17.02.2009
+MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0000987 Atypical scarring of skin IEA IEA 17.02.2009
+MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0001000 Abnormality of skin pigmentation IEA IEA 17.02.2009
+MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0001124 Salt and pepper retinal pigmentation IEA IEA 17.02.2009
+MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0001249 Intellectual disability IEA IEA 17.02.2009
+MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0001288 Gait disturbance IEA IEA 17.02.2009
+MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0001371 Contractures IEA IEA 17.02.2009
+MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0001516 Dwarfism IEA IEA 17.02.2009
+MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0002343 Normal pressure hydrocephalus IEA IEA 17.02.2009
+MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0002514 Cerebral calcification IEA IEA 17.02.2009
+MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0003130 Abnormal peripheral myelination IEA IEA 17.02.2009
+MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0003151 Disturbed visual and brainstem auditory evoked responses indicative of CNS demyelination IEA IEA 17.02.2009
+MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0003357 Thymic hormone decreased IEA IEA 17.02.2009
+MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0004334 Dermal atrophy IEA IEA 17.02.2009
+MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0007495 Prematurely aged appearance IEA IEA 17.02.2009
+MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0001176 Large hands PCS PCS MIM:216411 probinson 17.03.2012
+MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0001833 Large feet PCS PCS MIM:216411 probinson 17.03.2012
+MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0003130 Abnormal peripheral myelination PCS PCS MIM:216411 probinson 17.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-221790.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-221790.tab 2012-03-16 17:28:56 UTC (rev 4196)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-221790.tab 2012-03-17 09:52:29 UTC (rev 4197)
@@ -1,11 +1,13 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:221790 DERMATOLEUKODYSTROPHY HP:0000007 IEA 17.02.2009
-MIM:221790 DERMATOLEUKODYSTROPHY HP:0000400 FMA:52781 PATO:0000586 IEA 17.02.2009
-MIM:221790 DERMATOLEUKODYSTROPHY HP:0000461 FMA:46472 PATO:0000586 IEA 17.02.2009
-MIM:221790 DERMATOLEUKODYSTROPHY HP:0000951 FMA:7163 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:221790 DERMATOLEUKODYSTROPHY HP:0001176 FMA:9712 PATO:0000586 ITM 17.02.2009
-MIM:221790 DERMATOLEUKODYSTROPHY HP:0001249 IEA 17.02.2009
-MIM:221790 DERMATOLEUKODYSTROPHY HP:0001939 GO:0008152 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:221790 DERMATOLEUKODYSTROPHY HP:0002415 ITM 17.02.2009
-MIM:221790 DERMATOLEUKODYSTROPHY HP:0002820 PATO:0000001 IEA 17.02.2009
-MIM:221790 DERMATOLEUKODYSTROPHY HP:0005333 IEA 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
+MIM:221790 DERMATOLEUKODYSTROPHY HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:221790 DERMATOLEUKODYSTROPHY HP:0000400 Macrotia IEA IEA 17.02.2009
+MIM:221790 DERMATOLEUKODYSTROPHY HP:0000461 Large nose IEA IEA 17.02.2009
+MIM:221790 DERMATOLEUKODYSTROPHY HP:0001249 Intellectual disability IEA IEA 17.02.2009
+MIM:221790 DERMATOLEUKODYSTROPHY HP:0001939 Abnormality of metabolism/homeostasis IEA IEA 17.02.2009
+MIM:221790 DERMATOLEUKODYSTROPHY HP:0005328 Progeroid facial appearance PCS PCS MIM:221790 probinson 17.03.2012
+MIM:221790 DERMATOLEUKODYSTROPHY HP:0001833 Large feet PCS PCS MIM:221790 probinson 17.03.2012
+MIM:221790 DERMATOLEUKODYSTROPHY HP:0001176 Large hands PCS PCS MIM:221790 probinson 17.03.2012
+MIM:221790 DERMATOLEUKODYSTROPHY HP:0002415 Leukodystrophy PCS PCS MIM:221790 probinson 17.03.2012
+MIM:221790 DERMATOLEUKODYSTROPHY HP:0001072 Thickened skin PCS PCS MIM:221790 probinson 17.03.2012
+MIM:221790 DERMATOLEUKODYSTROPHY HP:0100678 Premature skin wrinkling PCS PCS MIM:221790 probinson 17.03.2012
+MIM:221790 DERMATOLEUKODYSTROPHY HP:0001249 Intellectual disability PCS PCS MIM:221790 probinson 17.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-236450.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-236450.tab 2012-03-16 17:28:56 UTC (rev 4196)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-236450.tab 2012-03-17 09:52:29 UTC (rev 4197)
@@ -1,6 +1,6 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:236450 HUTTERITE CEREBROOSTEONEPHRODYSPLASIA SYNDROME HP:0000007 IEA 17.02.2009
-MIM:236450 HUTTERITE CEREBROOSTEONEPHRODYSPLASIA SYNDROME HP:0002022 IEA 17.02.2009
-MIM:236450 HUTTERITE CEREBROOSTEONEPHRODYSPLASIA SYNDROME HP:0006887 IEA 17.02.2009
-MIM:236450 HUTTERITE CEREBROOSTEONEPHRODYSPLASIA SYNDROME HP:0008638 IEA 17.02.2009
-MIM:236450 HUTTERITE CEREBROOSTEONEPHRODYSPLASIA SYNDROME HP:0008852 IEA 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
+MIM:236450 HUTTERITE CEREBROOSTEONEPHRODYSPLASIA SYNDROME HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:236450 HUTTERITE CEREBROOSTEONEPHRODYSPLASIA SYNDROME HP:0004322 Short stature PCS PCS MIM:236450 probinson 17.03.2012
+MIM:236450 HUTTERITE CEREBROOSTEONEPHRODYSPLASIA SYNDROME HP:0008638 Terminal nephrotic syndrome PCS PCS MIM:236450 probinson 17.03.2012
+MIM:236450 HUTTERITE CEREBROOSTEONEPHRODYSPLASIA SYNDROME HP:0002022 Feeding difficulties PCS PCS MIM:236450 probinson 17.03.2012
+MIM:236450 HUTTERITE CEREBROOSTEONEPHRODYSPLASIA SYNDROME HP:0000007 Autosomal recessive inheritance PCS PCS MIM:236450 probinson 17.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-300067.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-300067.tab 2012-03-16 17:28:56 UTC (rev 4196)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-300067.tab 2012-03-17 09:52:29 UTC (rev 4197)
@@ -1,17 +1,16 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:300067 LISSENCEPHALY, X-LINKED, 1 MIM:300121 DCX HP:0000054 FMA:9707 PATO:0000587 IEA 17.02.2009
-MIM:300067 LISSENCEPHALY, X-LINKED, 1 MIM:300121 DCX HP:0000639 IEA 17.02.2009
-MIM:300067 LISSENCEPHALY, X-LINKED, 1 MIM:300121 DCX HP:0001251 GO:0050881 PATO:0000770 IEA 17.02.2009
-MIM:300067 LISSENCEPHALY, X-LINKED, 1 MIM:300121 DCX HP:0001260 IEA 17.02.2009
-MIM:300067 LISSENCEPHALY, X-LINKED, 1 MIM:300121 DCX HP:0001270 IEA 17.02.2009
-MIM:300067 LISSENCEPHALY, X-LINKED, 1 MIM:300121 DCX HP:0001274 PATO:0001557 FMA:86464 IEA 17.02.2009
-MIM:300067 LISSENCEPHALY, X-LINKED, 1 MIM:300121 DCX HP:0001302 IEA 17.02.2009
-MIM:300067 LISSENCEPHALY, X-LINKED, 1 MIM:300121 DCX HP:0001303 IEA 17.02.2009
-MIM:300067 LISSENCEPHALY, X-LINKED, 1 MIM:300121 DCX HP:0001339 IEA 17.02.2009
-MIM:300067 LISSENCEPHALY, X-LINKED, 1 MIM:300121 DCX HP:0001417 IEA 17.02.2009
-MIM:300067 LISSENCEPHALY, X-LINKED, 1 MIM:300121 DCX HP:0001517 GO:0040007 PATO:0001511 IEA 17.02.2009
-MIM:300067 LISSENCEPHALY, X-LINKED, 1 MIM:300121 DCX HP:0001522 IEA 17.02.2009
-MIM:300067 LISSENCEPHALY, X-LINKED, 1 MIM:300121 DCX HP:0003815 ITM 17.02.2009
-MIM:300067 LISSENCEPHALY, X-LINKED, 1 MIM:300121 DCX HP:0003829 IEA 17.02.2009
-MIM:300067 LISSENCEPHALY, X-LINKED, 1 MIM:300121 DCX HP:0006887 IEA 17.02.2009
-MIM:300067 LISSENCEPHALY, X-LINKED, 1 MIM:300121 DCX HP:0008936 PATO:0001619 IEA 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
+MIM:300067 LISSENCEPHALY, X-LINKED, 1 MIM:300121 DOUBLECORTIN DCX HP:0000054 Micropenis IEA IEA 17.02.2009
+MIM:300067 LISSENCEPHALY, X-LINKED, 1 MIM:300121 DOUBLECORTIN DCX HP:0000639 Nystagmus IEA IEA 17.02.2009
+MIM:300067 LISSENCEPHALY, X-LINKED, 1 MIM:300121 DOUBLECORTIN DCX HP:0001251 Ataxia IEA IEA 17.02.2009
+MIM:300067 LISSENCEPHALY, X-LINKED, 1 MIM:300121 DOUBLECORTIN DCX HP:0001260 Dysarthria IEA IEA 17.02.2009
+MIM:300067 LISSENCEPHALY, X-LINKED, 1 MIM:300121 DOUBLECORTIN DCX HP:0001270 Motor delay IEA IEA 17.02.2009
+MIM:300067 LISSENCEPHALY, X-LINKED, 1 MIM:300121 DOUBLECORTIN DCX HP:0001274 Agenesis of corpus callosum IEA IEA 17.02.2009
+MIM:300067 LISSENCEPHALY, X-LINKED, 1 MIM:300121 DOUBLECORTIN DCX HP:0001302 Pachygyria IEA IEA 17.02.2009
+MIM:300067 LISSENCEPHALY, X-LINKED, 1 MIM:300121 DOUBLECORTIN DCX HP:0001339 Lissencephaly IEA IEA 17.02.2009
+MIM:300067 LISSENCEPHALY, X-LINKED, 1 MIM:300121 DOUBLECORTIN DCX HP:0001417 X-linked inheritance IEA IEA 17.02.2009
+MIM:300067 LISSENCEPHALY, X-LINKED, 1 MIM:300121 DOUBLECORTIN DCX HP:0001522 Death in infancy IEA IEA 17.02.2009
+MIM:300067 LISSENCEPHALY, X-LINKED, 1 MIM:300121 DOUBLECORTIN DCX HP:0003829 Incomplete penetrance IEA IEA 17.02.2009
+MIM:300067 LISSENCEPHALY, X-LINKED, 1 MIM:300121 DOUBLECORTIN DCX HP:0008936 Muscular hypotonia of the trunk IEA IEA 17.02.2009
+MIM:300067 LISSENCEPHALY, X-LINKED, 1 MIM:300121 DOUBLECORTIN DCX HP:0001250 Seizures PCS PCS MIM:300067 17.03.2012
+MIM:300067 LISSENCEPHALY, X-LINKED, 1 MIM:300121 DOUBLECORTIN DCX HP:0008897 Postnatal growth retardation PCS PCS MIM:300067 17.03.2012
+MIM:300067 LISSENCEPHALY, X-LINKED, 1 MIM:300121 DOUBLECORTIN DCX HP:0001249 Intellectual disability PCS PCS MIM:300067 17.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-309545.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-309545.tab 2012-03-16 17:28:56 UTC (rev 4196)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-309545.tab 2012-03-17 09:52:29 UTC (rev 4197)
@@ -1,12 +1,13 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:309545 MENTAL RETARDATION, X-LINKED, SYNDROMIC 12 HP:0000170 IEA 17.02.2009
-MIM:309545 MENTAL RETARDATION, X-LINKED, SYNDROMIC 12 HP:0000181 IEA 17.02.2009
-MIM:309545 MENTAL RETARDATION, X-LINKED, SYNDROMIC 12 HP:0000248 IEA 17.02.2009
-MIM:309545 MENTAL RETARDATION, X-LINKED, SYNDROMIC 12 HP:0000303 FMA:46495 PATO:0001482 IEA 17.02.2009
-MIM:309545 MENTAL RETARDATION, X-LINKED, SYNDROMIC 12 HP:0000321 FMA:24728 PATO:0000413 IEA 17.02.2009
-MIM:309545 MENTAL RETARDATION, X-LINKED, SYNDROMIC 12 HP:0001250 IEA 17.02.2009
-MIM:309545 MENTAL RETARDATION, X-LINKED, SYNDROMIC 12 HP:0001417 IEA 17.02.2009
-MIM:309545 MENTAL RETARDATION, X-LINKED, SYNDROMIC 12 HP:0001517 GO:0040007 PATO:0001511 IEA 17.02.2009
-MIM:309545 MENTAL RETARDATION, X-LINKED, SYNDROMIC 12 HP:0002381 IEA 17.02.2009
-MIM:309545 MENTAL RETARDATION, X-LINKED, SYNDROMIC 12 HP:0002719 IEA 17.02.2009
-MIM:309545 MENTAL RETARDATION, X-LINKED, SYNDROMIC 12 HP:0007127 IEA 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
+MIM:309545 MENTAL RETARDATION, X-LINKED, SYNDROMIC 12 HP:0000248 Brachycephaly IEA IEA 17.02.2009
+MIM:309545 MENTAL RETARDATION, X-LINKED, SYNDROMIC 12 HP:0000303 Mandibular prognathia IEA IEA 17.02.2009
+MIM:309545 MENTAL RETARDATION, X-LINKED, SYNDROMIC 12 HP:0000321 Square face IEA IEA 17.02.2009
+MIM:309545 MENTAL RETARDATION, X-LINKED, SYNDROMIC 12 HP:0001250 Seizures IEA IEA 17.02.2009
+MIM:309545 MENTAL RETARDATION, X-LINKED, SYNDROMIC 12 HP:0001417 X-linked inheritance IEA IEA 17.02.2009
+MIM:309545 MENTAL RETARDATION, X-LINKED, SYNDROMIC 12 HP:0002381 Aphasia IEA IEA 17.02.2009
+MIM:309545 MENTAL RETARDATION, X-LINKED, SYNDROMIC 12 HP:0002719 Recurrent infections IEA IEA 17.02.2009
+MIM:309545 MENTAL RETARDATION, X-LINKED, SYNDROMIC 12 HP:0000179 Thick lower lip vermilion PCS PCS MIM: 17.03.2012
+MIM:309545 MENTAL RETARDATION, X-LINKED, SYNDROMIC 12 HP:0000154 Wide mouth PCS PCS MIM: 17.03.2012
+MIM:309545 MENTAL RETARDATION, X-LINKED, SYNDROMIC 12 HP:0000750 Delayed speech and language development PCS PCS MIM: 17.03.2012
+MIM:309545 MENTAL RETARDATION, X-LINKED, SYNDROMIC 12 HP:0000215 Thick upper lip vermilion PCS PCS MIM: 17.03.2012
+MIM:309545 MENTAL RETARDATION, X-LINKED, SYNDROMIC 12 HP:0008897 Postnatal growth retardation PCS PCS MIM: 17.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-309900.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-309900.tab 2012-03-16 17:28:56 UTC (rev 4196)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-309900.tab 2012-03-17 09:52:29 UTC (rev 4197)
@@ -1,39 +1,39 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:309900 MUCOPOLYSACCHARIDOSIS TYPE II HP:0000023 IEA 17.02.2009
-MIM:309900 MUCOPOLYSACCHARIDOSIS TYPE II HP:0000158 FMA:46689 PATO:0000584 IEA 17.02.2009
-MIM:309900 MUCOPOLYSACCHARIDOSIS TYPE II HP:0000170 IEA 17.02.2009
-MIM:309900 MUCOPOLYSACCHARIDOSIS TYPE II HP:0000238 FMA:50801 PATO:0001853 FMA:20935 IEA 17.02.2009
-MIM:309900 MUCOPOLYSACCHARIDOSIS TYPE II HP:0000256 FMA:46565 PATO:0000586 IEA 17.02.2009
-MIM:309900 MUCOPOLYSACCHARIDOSIS TYPE II HP:0000258 IEA 17.02.2009
-MIM:309900 MUCOPOLYSACCHARIDOSIS TYPE II HP:0000280 FMA:24728 PATO:0000700 IEA 17.02.2009
-MIM:309900 MUCOPOLYSACCHARIDOSIS TYPE II HP:0000365 IEA 17.02.2009
-MIM:309900 MUCOPOLYSACCHARIDOSIS TYPE II HP:0000403 IEA 17.02.2009
-MIM:309900 MUCOPOLYSACCHARIDOSIS TYPE II HP:0000470 FMA:7155 PATO:0000574 IEA 17.02.2009
-MIM:309900 MUCOPOLYSACCHARIDOSIS TYPE II HP:0000508 IEA 17.02.2009
-MIM:309900 MUCOPOLYSACCHARIDOSIS TYPE II HP:0000684 PATO:0000502 IEA 17.02.2009
-MIM:309900 MUCOPOLYSACCHARIDOSIS TYPE II HP:0000687 IEA 17.02.2009
-MIM:309900 MUCOPOLYSACCHARIDOSIS TYPE II HP:0000943 IEA 17.02.2009
-MIM:309900 MUCOPOLYSACCHARIDOSIS TYPE II HP:0000998 IEA 17.02.2009
-MIM:309900 MUCOPOLYSACCHARIDOSIS TYPE II HP:0001085 IEA 17.02.2009
-MIM:309900 MUCOPOLYSACCHARIDOSIS TYPE II HP:0001171 IEA 17.02.2009
-MIM:309900 MUCOPOLYSACCHARIDOSIS TYPE II HP:0001250 IEA 17.02.2009
-MIM:309900 MUCOPOLYSACCHARIDOSIS TYPE II HP:0001371 FMA:9721 PATO:0000574 IEA 17.02.2009
-MIM:309900 MUCOPOLYSACCHARIDOSIS TYPE II HP:0001419 IEA 17.02.2009
-MIM:309900 MUCOPOLYSACCHARIDOSIS TYPE II HP:0001537 FMA:61584 PATO:0000643 IEA 17.02.2009
-MIM:309900 MUCOPOLYSACCHARIDOSIS TYPE II HP:0001609 IEA 17.02.2009
-MIM:309900 MUCOPOLYSACCHARIDOSIS TYPE II HP:0001635 GO:0060047 PATO:0001641 IEA 17.02.2009
-MIM:309900 MUCOPOLYSACCHARIDOSIS TYPE II HP:0001654 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:309900 MUCOPOLYSACCHARIDOSIS TYPE II HP:0001744 FMA:7196 PATO:0000586 IEA 17.02.2009
-MIM:309900 MUCOPOLYSACCHARIDOSIS TYPE II HP:0001761 IEA 17.02.2009
-MIM:309900 MUCOPOLYSACCHARIDOSIS TYPE II HP:0002014 FMA:64183 PATO:0001548 IEA 17.02.2009
-MIM:309900 MUCOPOLYSACCHARIDOSIS TYPE II HP:0002099 IEA 17.02.2009
-MIM:309900 MUCOPOLYSACCHARIDOSIS TYPE II HP:0002180 ITM 17.02.2009
-MIM:309900 MUCOPOLYSACCHARIDOSIS TYPE II HP:0002240 FMA:7197 PATO:0000586 IEA 17.02.2009
-MIM:309900 MUCOPOLYSACCHARIDOSIS TYPE II HP:0002341 IEA 17.02.2009
-MIM:309900 MUCOPOLYSACCHARIDOSIS TYPE II HP:0002786 IEA 17.02.2009
-MIM:309900 MUCOPOLYSACCHARIDOSIS TYPE II HP:0002808 PATO:0001468 IEA PATO:0001869 17.02.2009
-MIM:309900 MUCOPOLYSACCHARIDOSIS TYPE II HP:0002870 ...
[truncated message content] |
|
From: <pr...@us...> - 2012-03-18 11:52:12
|
Revision: 4199
http://obo.svn.sourceforge.net/obo/?rev=4199&view=rev
Author: probins
Date: 2012-03-18 11:52:05 +0000 (Sun, 18 Mar 2012)
Log Message:
-----------
More corrected annotation files
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/MIM-154275.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-154276.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-605249.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-154275.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-154276.tab
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-605249.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-154275.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-154275.tab 2012-03-18 10:19:17 UTC (rev 4198)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-154275.tab 2012-03-18 11:52:05 UTC (rev 4199)
@@ -3,8 +3,11 @@
MIM:154275 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2 HP:0001945 Fever ITM ITM 17.02.2009
MIM:154275 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2 HP:0002047 Malignant hyperthermia ITM ITM 17.02.2009
MIM:154275 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2 HP:0003198 Myopathy IEA IEA 17.02.2009
-MIM:154275 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2 HP:0003558 Rhabdomyolysis may follow severe exercise in hot conditions, neuroleptic drugs, alcohol, or infections IEA IEA 17.02.2009
MIM:154275 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2 HP:0003236 Elevated serum creatine phosphokinase PCS PCS MIM:145600 probinson 18.03.2012
MIM:154275 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2 HP:0002153 Hyperkalemia PCS PCS MIM:145600 probinson 18.03.2012
MIM:154275 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2 HP:0002905 Hyperphosphatemia PCS PCS MIM:145600 probinson 18.03.2012
MIM:154275 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2 HP:0003128 Lactic acidosis PCS PCS MIM:145600 probinson 18.03.2012
+MIM:154275 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2 HP:0003558 Viral infection-induced rhabdomyolysis PCS PCS MIM:145600 probinson 18.03.2012
+MIM:154275 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2 HP:0011439 Anesthetic-induced rhabdomylosis PCS PCS MIM:145600 probinson 18.03.2012
+MIM:154275 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2 HP:0009045 Exercise-induced rhabdomyolysis PCS PCS MIM:145600 probinson 18.03.2012
+MIM:154275 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2 HP:0011440 Alcohol-induced rhabdomyolysis PCS PCS MIM:145600 probinson 18.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-154276.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-154276.tab 2012-03-18 10:19:17 UTC (rev 4198)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-154276.tab 2012-03-18 11:52:05 UTC (rev 4199)
@@ -1,10 +1,12 @@
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:154276 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3 HP:0001425 Heterogeneous IEA IEA 17.02.2009
MIM:154276 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3 HP:0001276 Hypertonia PCS PCS MIM:154276 probinson 17.02.2009
-MIM:154276 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3 HP:0001945 Fever ITM ITM 17.02.2009
-MIM:154276 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3 HP:0002047 Malignant hyperthermia ITM ITM 17.02.2009
MIM:154276 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3 HP:0003198 Myopathy IEA IEA 17.02.2009
-MIM:154276 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3 IEA IEA 17.02.2009
MIM:154276 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3 HP:0003236 Elevated serum creatine phosphokinase PCS PCS MIM:154276 probinson 18.03.2012
MIM:154276 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3 HP:0002153 Hyperkalemia PCS PCS MIM:154276 probinson 18.03.2012
MIM:154276 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3 HP:0002905 Hyperphosphatemia PCS PCS MIM:154276 probinson 18.03.2012
+MIM:154276 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3 HP:0002047 Malignant hyperthermia PCS PCS MIM:154276 probinson 18.03.2012
+MIM:154276 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3 HP:0003558 Viral infection-induced rhabdomyolysis PCS PCS MIM:154276 probinson 18.03.2012
+MIM:154276 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3 HP:0011439 Anesthetic-induced rhabdomylosis PCS PCS MIM:154276 probinson 18.03.2012
+MIM:154276 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3 HP:0009045 Exercise-induced rhabdomyolysis PCS PCS MIM:154276 probinson 18.03.2012
+MIM:154276 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3 HP:0011440 Alcohol-induced rhabdomyolysis PCS PCS MIM:154276 probinson 18.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-605249.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-605249.tab 2012-03-18 10:19:17 UTC (rev 4198)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-605249.tab 2012-03-18 11:52:05 UTC (rev 4199)
@@ -1,12 +1,7 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:605249 SEBASTIAN SYNDROME MIM:160775 MYH9 HP:0000006 IEA 17.02.2009
-MIM:605249 SEBASTIAN SYNDROME MIM:160775 MYH9 HP:0000079 IEA 17.02.2009
-MIM:605249 SEBASTIAN SYNDROME MIM:160775 MYH9 HP:0000404 GO:0007605 PATO:0000462 ITM 17.02.2009
-MIM:605249 SEBASTIAN SYNDROME MIM:160775 MYH9 HP:0000421 ITM 17.02.2009
-MIM:605249 SEBASTIAN SYNDROME MIM:160775 MYH9 HP:0000478 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:605249 SEBASTIAN SYNDROME MIM:160775 MYH9 HP:0001902 FMA:62851 PATO:0001940 IEA 17.02.2009
-MIM:605249 SEBASTIAN SYNDROME MIM:160775 MYH9 HP:0001932 IEA 17.02.2009
-MIM:605249 SEBASTIAN SYNDROME MIM:160775 MYH9 HP:0008294 IEA 17.02.2009
-MIM:605249 SEBASTIAN SYNDROME MIM:160775 MYH9 HP:0008302 IEA 17.02.2009
-MIM:605249 SEBASTIAN SYNDROME MIM:160775 MYH9 HP:0008513 ITM 17.02.2009
-MIM:605249 SEBASTIAN SYNDROME MIM:160775 MYH9 HP:0008530 ITM 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
+MIM:605249 SEBASTIAN SYNDROME MIM:160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE MYH9 HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:605249 SEBASTIAN SYNDROME MIM:160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE MYH9 HP:0001902 Giant platelets IEA IEA 17.02.2009
+MIM:605249 SEBASTIAN SYNDROME MIM:160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE MYH9 HP:0001932 Leukocyte inclusion bodies (Dohle-like bodies) IEA IEA 17.02.2009
+MIM:605249 SEBASTIAN SYNDROME MIM:160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE MYH9 HP:0001873 Thrombocytopenia PCS PCS MIM:605249 probinson 18.03.2012
+MIM:605249 SEBASTIAN SYNDROME MIM:160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE MYH9 HP:0003010 Prolonged bleeding time PCS PCS Mild MIM:605249 probinson 18.03.2012
+MIM:605249 SEBASTIAN SYNDROME MIM:160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE MYH9 HP:0000421 Epistaxis PCS PCS MIM:605249 probinson 18.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-154275.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-154275.tab 2012-03-18 10:19:17 UTC (rev 4198)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-154275.tab 2012-03-18 11:52:05 UTC (rev 4199)
@@ -3,8 +3,11 @@
MIM:154275 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2 HP:0001945 Fever ITM ITM 17.02.2009
MIM:154275 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2 HP:0002047 Malignant hyperthermia ITM ITM 17.02.2009
MIM:154275 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2 HP:0003198 Myopathy IEA IEA 17.02.2009
-MIM:154275 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2 HP:0003558 Rhabdomyolysis may follow severe exercise in hot conditions, neuroleptic drugs, alcohol, or infections IEA IEA 17.02.2009
MIM:154275 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2 HP:0003236 Elevated serum creatine phosphokinase PCS PCS MIM:145600 probinson 18.03.2012
MIM:154275 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2 HP:0002153 Hyperkalemia PCS PCS MIM:145600 probinson 18.03.2012
MIM:154275 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2 HP:0002905 Hyperphosphatemia PCS PCS MIM:145600 probinson 18.03.2012
MIM:154275 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2 HP:0003128 Lactic acidosis PCS PCS MIM:145600 probinson 18.03.2012
+MIM:154275 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2 HP:0003558 Viral infection-induced rhabdomyolysis PCS PCS MIM:145600 probinson 18.03.2012
+MIM:154275 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2 HP:0011439 Anesthetic-induced rhabdomylosis PCS PCS MIM:145600 probinson 18.03.2012
+MIM:154275 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2 HP:0009045 Exercise-induced rhabdomyolysis PCS PCS MIM:145600 probinson 18.03.2012
+MIM:154275 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2 HP:0011440 Alcohol-induced rhabdomyolysis PCS PCS MIM:145600 probinson 18.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-154276.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-154276.tab 2012-03-18 10:19:17 UTC (rev 4198)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-154276.tab 2012-03-18 11:52:05 UTC (rev 4199)
@@ -1,10 +1,12 @@
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:154276 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3 HP:0001425 Heterogeneous IEA IEA 17.02.2009
MIM:154276 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3 HP:0001276 Hypertonia PCS PCS MIM:154276 probinson 17.02.2009
-MIM:154276 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3 HP:0001945 Fever ITM ITM 17.02.2009
-MIM:154276 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3 HP:0002047 Malignant hyperthermia ITM ITM 17.02.2009
MIM:154276 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3 HP:0003198 Myopathy IEA IEA 17.02.2009
-MIM:154276 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3 IEA IEA 17.02.2009
MIM:154276 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3 HP:0003236 Elevated serum creatine phosphokinase PCS PCS MIM:154276 probinson 18.03.2012
MIM:154276 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3 HP:0002153 Hyperkalemia PCS PCS MIM:154276 probinson 18.03.2012
MIM:154276 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3 HP:0002905 Hyperphosphatemia PCS PCS MIM:154276 probinson 18.03.2012
+MIM:154276 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3 HP:0002047 Malignant hyperthermia PCS PCS MIM:154276 probinson 18.03.2012
+MIM:154276 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3 HP:0003558 Viral infection-induced rhabdomyolysis PCS PCS MIM:154276 probinson 18.03.2012
+MIM:154276 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3 HP:0011439 Anesthetic-induced rhabdomylosis PCS PCS MIM:154276 probinson 18.03.2012
+MIM:154276 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3 HP:0009045 Exercise-induced rhabdomyolysis PCS PCS MIM:154276 probinson 18.03.2012
+MIM:154276 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3 HP:0011440 Alcohol-induced rhabdomyolysis PCS PCS MIM:154276 probinson 18.03.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-605249.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-605249.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-605249.tab 2012-03-18 11:52:05 UTC (rev 4199)
@@ -0,0 +1,7 @@
+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:605249 SEBASTIAN SYNDROME MIM:160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE MYH9 HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:605249 SEBASTIAN SYNDROME MIM:160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE MYH9 HP:0001902 Giant platelets IEA IEA 17.02.2009
+MIM:605249 SEBASTIAN SYNDROME MIM:160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE MYH9 HP:0001932 Leukocyte inclusion bodies (Dohle-like bodies) IEA IEA 17.02.2009
+MIM:605249 SEBASTIAN SYNDROME MIM:160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE MYH9 HP:0001873 Thrombocytopenia PCS PCS MIM:605249 probinson 18.03.2012
+MIM:605249 SEBASTIAN SYNDROME MIM:160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE MYH9 HP:0003010 Prolonged bleeding time PCS PCS Mild MIM:605249 probinson 18.03.2012
+MIM:605249 SEBASTIAN SYNDROME MIM:160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE MYH9 HP:0000421 Epistaxis PCS PCS MIM:605249 probinson 18.03.2012
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <pr...@us...> - 2012-03-18 15:37:59
|
Revision: 4200
http://obo.svn.sourceforge.net/obo/?rev=4200&view=rev
Author: probins
Date: 2012-03-18 15:37:51 +0000 (Sun, 18 Mar 2012)
Log Message:
-----------
Corrected annotation files
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/MIM-133540.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-193700.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-208920.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-216400.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-216411.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-229310.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-302900.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-601455.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-601992.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-133540.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-208920.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-216400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-216411.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-302900.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-133540.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-133540.tab 2012-03-18 11:52:05 UTC (rev 4199)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-133540.tab 2012-03-18 15:37:51 UTC (rev 4200)
@@ -53,7 +53,6 @@
MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0002808 Kyphosis IEA IEA 17.02.2009
MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0002866 Hypoplastic iliac wings IEA IEA 17.02.2009
MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0003130 Abnormal peripheral myelination IEA IEA 17.02.2009
-MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0003151 Disturbed visual and brainstem auditory evoked responses indicative of CNS demyelination IEA IEA 17.02.2009
MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0003224 Increased cellular sensitivity to UV light IEA IEA 17.02.2009
MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0003278 Small, squared off pelvis IEA IEA 17.02.2009
MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0003469 Dysmyelination IEA IEA 17.02.2009
@@ -68,3 +67,5 @@
MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000685 Hypoplasia of teeth PCS PCS MIM:133540 probinson 17.03.2012
MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0008897 Postnatal growth retardation PCS PCS MIM:133540 probinson 17.03.2012
MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0001376 Decreased mobility of joints PCS PCS MIM:133540 probinson 17.03.2012
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0006958 Abnormal auditory evoked potentials IEA IEA MIM:133540 probinson 18.03.2012
+MIM:133540 COCKAYNE SYNDROME, TYPE B MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000649 Abnormality of vision evoked potentials IEA IEA MIM:133540 probinson 18.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-193700.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-193700.tab 2012-03-18 11:52:05 UTC (rev 4199)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-193700.tab 2012-03-18 15:37:51 UTC (rev 4200)
@@ -1,47 +1,46 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0000006 IEA 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0000023 IEA 25.0000 % 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0000028 IEA 25.0000 % 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0000160 IEA 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0000205 IEA 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0000218 FMA:54549 PATO:0000570 IEA 25.0000 % 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0000226 FMA:54640 PATO:0000587 IEA 25.0000 % 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0000252 FMA:46565 PATO:0000587 IEA 44.0000 % 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0000272 FMA:52747 PATO:0000645 IEA 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0000286 IEA 25.0000 % 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0000298 IEA 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0000333 IEA 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0000343 FMA:59819 PATO:0000573 IEA 25.0000 % 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0000346 IEA 100.0000 % 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0000430 FMA:59502 PATO:0000645 IEA 25.0000 % 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0000431 IEA 25.0000 % 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0000470 FMA:7155 PATO:0000574 IEA 7.5000 % 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0000486 IEA 25.0000 % 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0000490 IEA 25.0000 % 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0000506 IEA 25.0000 % 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0000508 IEA 7.5000 % 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0000581 IEA 25.0000 % 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0000951 FMA:7163 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0001181 IEA 25.0000 % 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0001193 IEA 91.0000 % 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0001250 IEA 19.0000 % 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0001267 IEA 31.0000 % 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0001272 IEA 7.5000 % 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0001508 IEA 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0001514 GO:0040007 PATO:0000911 IEA 62.0000 % 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0001518 IEA 7.5000 % 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0001611 IEA 25.0000 % 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0001762 IEA 59.0000 % 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0001838 FMA:9708 PATO:0001854 IEA 25.0000 % 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0001860 FMA:25046 HP:0001371 IEA 59.0000 % 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0002365 FMA:79876 PATO:0000645 IEA 7.5000 % 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0002751 PATO:0000001 IEA 84.0000 % 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0002827 FMA:24964 PATO:0001852 IEA 7.5000 % 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0002978 FMA:24974 HP:0001371 IEA 73.0000 % 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0003044 FMA:25202 HP:0001371 IEA 25.0000 % 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0003196 FMA:46472 PATO:0000645 IEA 25.0000 % 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0003273 FMA:24964 HP:0001371 IEA 73.0000 % 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0003298 IEA 7.5000 % 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0004648 IEA 25.0000 % 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0006923 IEA 7.5000 % 17.02.2009
-MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYH3 HP:0010563 IEA 88.0000 % 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
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0000023 Inguinal hernia IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0000028 Cryptorchidism IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0000160 Narrow mouth IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0000205 Pursed lips IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0000218 High palate IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0000252 Microcephaly IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0000272 Malar hypoplasia IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0000286 Epicanthus IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0000298 Mask-like facies IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0000343 Long philtrum IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0000346 Whistling appearance IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0000430 Hypoplastic nasal alae IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0000431 Broad nasal bridge IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0000470 Short neck IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0000486 Strabismus IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0000490 Deeply set eye IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0000506 Telecanthus IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0000508 Ptosis IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0000581 Blepharophimosis IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0000951 Abnormality of the skin IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0001181 Adducted thumb IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0001193 Ulnar deviation of the hand or of fingers of the hand IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0001250 Seizures IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0001272 Cerebellar atrophy IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0001508 Failure to thrive IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0001518 Small for gestational age IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0001611 Nasal speech IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0001762 Talipes equinovarus IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0001838 Vertical talus IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0002365 Hypoplasia of the brainstem IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0002751 Kyphoscoliosis IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0002827 Dislocated hips IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0002978 Knee contractures IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0003044 Shoulder contractures IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0003196 Nasal hypoplasia IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0003273 Hip contractures IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0003298 Spina bifida occulta IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0004648 Prominent chin with central dimple IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0006923 Abnormal brainstem auditory evoked potentials, suggesting demyelination IEA IEA 17.02.2009
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0001249 Intellectual disability PCS PCS 31% MIM:193700 probinson 18.03.2012
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0008897 Postnatal growth retardation PCS PCS 31% MIM:193700 probinson 18.03.2012
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0200027 Contractures of the toes PCS PCS 31% MIM:193700 probinson 18.03.2012
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0011220 Prominent forehead PCS PCS 31% MIM:193700 probinson 18.03.2012
+MIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A MIM:160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC MYH3 HP:0009473 Joint contractures involving the joints of the hand PCS PCS 31% MIM:193700 probinson 18.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-208920.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-208920.tab 2012-03-18 11:52:05 UTC (rev 4199)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-208920.tab 2012-03-18 15:37:51 UTC (rev 4200)
@@ -1,30 +1,30 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add'l Entity Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Negation ID Negation Name Description Orthologs Pub Date Created
-MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA EAOH ATAXIA-OCULOMOTOR APRAXIA 1 ATAXIA-TELANGIECTASIA-LIKE SYNDROME CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA, INCLUDED MIM:606350 APRATAXIN APTX HP:0000007 Autosomal recessive inheritance TAS OMIM:208920 Feb 17, 2009
-MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA EAOH ATAXIA-OCULOMOTOR APRAXIA 1 ATAXIA-TELANGIECTASIA-LIKE SYNDROME CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA, INCLUDED MIM:606350 APRATAXIN APTX HP:0000571 Hypometric saccades TAS OMIM:208920 Feb 17, 2009
-MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA EAOH ATAXIA-OCULOMOTOR APRAXIA 1 ATAXIA-TELANGIECTASIA-LIKE SYNDROME CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA, INCLUDED MIM:606350 APRATAXIN APTX HP:0000590 External ophthalmoplegia, progressive (PEO) TAS OMIM:208920 Feb 17, 2009
-MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA EAOH ATAXIA-OCULOMOTOR APRAXIA 1 ATAXIA-TELANGIECTASIA-LIKE SYNDROME CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA, INCLUDED MIM:606350 APRATAXIN APTX HP:0000640 Gaze-evoked nystagmus PCS 14/14 PMID:14506070 Feb 17, 2009
-MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA EAOH ATAXIA-OCULOMOTOR APRAXIA 1 ATAXIA-TELANGIECTASIA-LIKE SYNDROME CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA, INCLUDED MIM:606350 APRATAXIN APTX HP:0000657 Oculomotor apraxia PCS 12/14 PMID:14506070 Feb 17, 2009
-MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA EAOH ATAXIA-OCULOMOTOR APRAXIA 1 ATAXIA-TELANGIECTASIA-LIKE SYNDROME CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA, INCLUDED MIM:606350 APRATAXIN APTX HP:0002337 Cognitive deficits PCS 11/11 PMID:14506070 Feb 17, 2009
-MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA EAOH ATAXIA-OCULOMOTOR APRAXIA 1 ATAXIA-TELANGIECTASIA-LIKE SYNDROME CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA, INCLUDED MIM:606350 APRATAXIN APTX HP:0001260 Dysarthria TAS OMIM:208920 Feb 17, 2009
-MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA EAOH ATAXIA-OCULOMOTOR APRAXIA 1 ATAXIA-TELANGIECTASIA-LIKE SYNDROME CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA, INCLUDED MIM:606350 APRATAXIN APTX HP:0001265 Hyporeflexia TAS OMIM:208920 Feb 17, 2009
-MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA EAOH ATAXIA-OCULOMOTOR APRAXIA 1 ATAXIA-TELANGIECTASIA-LIKE SYNDROME CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA, INCLUDED MIM:606350 APRATAXIN APTX HP:0001272 Cerebellar atrophy PCS 14/14 Feb 17, 2009
-MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA EAOH ATAXIA-OCULOMOTOR APRAXIA 1 ATAXIA-TELANGIECTASIA-LIKE SYNDROME CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA, INCLUDED MIM:606350 APRATAXIN APTX HP:0001284 Areflexia TAS OMIM:208920 Feb 17, 2009
-MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA EAOH ATAXIA-OCULOMOTOR APRAXIA 1 ATAXIA-TELANGIECTASIA-LIKE SYNDROME CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA, INCLUDED MIM:606350 APRATAXIN APTX HP:0001324 Muscle weakness FMA:5022 null PATO:0001779 decreased strength TAS OMIM:208920 Feb 17, 2009
-MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA EAOH ATAXIA-OCULOMOTOR APRAXIA 1 ATAXIA-TELANGIECTASIA-LIKE SYNDROME CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA, INCLUDED MIM:606350 APRATAXIN APTX HP:0001332 Dystonia FMA:30316 null PATO:0001814 dystonicity TAS OMIM:208920 Feb 17, 2009
-MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA EAOH ATAXIA-OCULOMOTOR APRAXIA 1 ATAXIA-TELANGIECTASIA-LIKE SYNDROME CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA, INCLUDED MIM:606350 APRATAXIN APTX HP:0001337 Tremor TAS OMIM:208920 Feb 17, 2009
-MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA EAOH ATAXIA-OCULOMOTOR APRAXIA 1 ATAXIA-TELANGIECTASIA-LIKE SYNDROME CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA, INCLUDED MIM:606350 APRATAXIN APTX HP:0001761 Pes cavus PCS 6/11 PMID:14506070 Feb 17, 2009
-MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA EAOH ATAXIA-OCULOMOTOR APRAXIA 1 ATAXIA-TELANGIECTASIA-LIKE SYNDROME CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA, INCLUDED MIM:606350 APRATAXIN APTX HP:0002066 Gait ataxia TAS OMIM:208920 Feb 17, 2009
-MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA EAOH ATAXIA-OCULOMOTOR APRAXIA 1 ATAXIA-TELANGIECTASIA-LIKE SYNDROME CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA, INCLUDED MIM:606350 APRATAXIN APTX HP:0002070 Limb ataxia FMA:7182 null HP:0001251 Ataxia TAS OMIM:208920 Feb 17, 2009
-MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA EAOH ATAXIA-OCULOMOTOR APRAXIA 1 ATAXIA-TELANGIECTASIA-LIKE SYNDROME CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA, INCLUDED MIM:606350 APRATAXIN APTX HP:0002078 Truncal ataxia TAS OMIM:208920 Feb 17, 2009
-MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA EAOH ATAXIA-OCULOMOTOR APRAXIA 1 ATAXIA-TELANGIECTASIA-LIKE SYNDROME CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA, INCLUDED MIM:606350 APRATAXIN APTX HP:0002650 Scoliosis PATO:0002049 lateral and rotional curvature PCS 6/12 PMID:14506070 Feb 17, 2009
-MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA EAOH ATAXIA-OCULOMOTOR APRAXIA 1 ATAXIA-TELANGIECTASIA-LIKE SYNDROME CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA, INCLUDED MIM:606350 APRATAXIN APTX HP:0002936 Distal sensory impairment FMA:30327 null HP:0003474 Sensory impairment TAS OMIM:208920 Feb 17, 2009
-MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA EAOH ATAXIA-OCULOMOTOR APRAXIA 1 ATAXIA-TELANGIECTASIA-LIKE SYNDROME CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA, INCLUDED MIM:606350 APRATAXIN APTX HP:0003073 Hypoalbuminemia PCS 10/12 PMID:14506070 Feb 17, 2009
-MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA EAOH ATAXIA-OCULOMOTOR APRAXIA 1 ATAXIA-TELANGIECTASIA-LIKE SYNDROME CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA, INCLUDED MIM:606350 APRATAXIN APTX HP:0003124 Hypercholesterolemia PCS 9/12 PMID:14506070 Feb 17, 2009
-MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA EAOH ATAXIA-OCULOMOTOR APRAXIA 1 ATAXIA-TELANGIECTASIA-LIKE SYNDROME CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA, INCLUDED MIM:606350 APRATAXIN APTX HP:0003387 Decreased number of large myelinated fibers TAS OMIM:208920 Feb 17, 2009
-MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA EAOH ATAXIA-OCULOMOTOR APRAXIA 1 ATAXIA-TELANGIECTASIA-LIKE SYNDROME CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA, INCLUDED MIM:606350 APRATAXIN APTX HP:0003661 Onset in childhood or adolescence TAS OMIM:208920 Feb 17, 2009
-MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA EAOH ATAXIA-OCULOMOTOR APRAXIA 1 ATAXIA-TELANGIECTASIA-LIKE SYNDROME CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA, INCLUDED MIM:606350 APRATAXIN APTX HP:0003662 Adult onset has been reported TAS OMIM:208920 Feb 17, 2009
-MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA EAOH ATAXIA-OCULOMOTOR APRAXIA 1 ATAXIA-TELANGIECTASIA-LIKE SYNDROME CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA, INCLUDED MIM:606350 APRATAXIN APTX HP:0003693 Distal amyotrophy _:distal_muscle null PATO:0001623 atrophied TAS OMIM:208920 Feb 17, 2009
-MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA EAOH ATAXIA-OCULOMOTOR APRAXIA 1 ATAXIA-TELANGIECTASIA-LIKE SYNDROME CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA, INCLUDED MIM:606350 APRATAXIN APTX HP:0006822 Mental deterioration in a subset of patients IEA Feb 17, 2009
-MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA EAOH ATAXIA-OCULOMOTOR APRAXIA 1 ATAXIA-TELANGIECTASIA-LIKE SYNDROME CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA, INCLUDED MIM:606350 APRATAXIN APTX HP:0007028 Choreoathetosis, more frequent at disease onset PCS 11/14 PMID:14506070 Feb 17, 2009
-MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA EAOH ATAXIA-OCULOMOTOR APRAXIA 1 ATAXIA-TELANGIECTASIA-LIKE SYNDROME CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA, INCLUDED MIM:606350 APRATAXIN APTX HP:0007050 Cerebellar ataxia, severe PCS 14/14 PMID:14506070 Feb 17, 2009
-MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA EAOH ATAXIA-OCULOMOTOR APRAXIA 1 ATAXIA-TELANGIECTASIA-LIKE SYNDROME CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA, INCLUDED MIM:606350 APRATAXIN APTX HP:0007304 Nerve biopsy shows axonal degeneration ITM Feb 17, 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
+MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA MIM:606350 APRATAXIN APTX HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:208920
+MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA MIM:606350 APRATAXIN APTX HP:0000571 Hypometric saccades TAS TAS OMIM:208920
+MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA MIM:606350 APRATAXIN APTX HP:0000590 External ophthalmoplegia, progressive (PEO) TAS TAS OMIM:208920
+MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA MIM:606350 APRATAXIN APTX HP:0000640 Gaze-evoked nystagmus PCS PCS PMID:14506070
+MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA MIM:606350 APRATAXIN APTX HP:0000657 Oculomotor apraxia PCS PCS PMID:14506070
+MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA MIM:606350 APRATAXIN APTX HP:0002337 Cognitive deficits PCS PCS PMID:14506070
+MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA MIM:606350 APRATAXIN APTX HP:0001260 Dysarthria TAS TAS OMIM:208920
+MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA MIM:606350 APRATAXIN APTX HP:0001265 Hyporeflexia TAS TAS OMIM:208920
+MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA MIM:606350 APRATAXIN APTX HP:0001272 Cerebellar atrophy PCS PCS
+MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA MIM:606350 APRATAXIN APTX HP:0001284 Areflexia TAS TAS OMIM:208920
+MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA MIM:606350 APRATAXIN APTX HP:0000657 Oculomotor apraxia PCS PCS PMID:14506070 18.03.2012
+MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA MIM:606350 APRATAXIN APTX HP:0001332 Dystonia TAS TAS OMIM:208920
+MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA MIM:606350 APRATAXIN APTX HP:0001337 Tremor TAS TAS OMIM:208920
+MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA MIM:606350 APRATAXIN APTX HP:0001761 Pes cavus PCS PCS PMID:14506070
+MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA MIM:606350 APRATAXIN APTX HP:0002066 Gait ataxia TAS TAS OMIM:208920
+MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA MIM:606350 APRATAXIN APTX HP:0002070 Limb ataxia TAS TAS OMIM:208920
+MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA MIM:606350 APRATAXIN APTX HP:0002078 Truncal ataxia TAS TAS OMIM:208920
+MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA MIM:606350 APRATAXIN APTX HP:0002650 Scoliosis PCS PCS PMID:14506070
+MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA MIM:606350 APRATAXIN APTX HP:0002936 Distal sensory impairment TAS TAS OMIM:208920
+MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA MIM:606350 APRATAXIN APTX HP:0003073 Hypoalbuminemia PCS PCS PMID:14506070
+MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA MIM:606350 APRATAXIN APTX HP:0003124 Hypercholesterolemia PCS PCS PMID:14506070
+MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA MIM:606350 APRATAXIN APTX HP:0003387 Decreased number of large peripheral myelinated nerve fibers TAS TAS OMIM:208920
+MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA MIM:606350 APRATAXIN APTX HP:0003693 Distal amyotrophy TAS TAS OMIM:208920
+MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA MIM:606350 APRATAXIN APTX HP:0001268 Mental deterioration IEA IEA Occasional OMIM:208920 probinson
+MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA MIM:606350 APRATAXIN APTX HP:0007050 Cerebellar ataxia, severe PCS PCS PMID:14506070
+MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA MIM:606350 APRATAXIN APTX HP:0001266 Choreoathetosis PCS PCS 79% PMID:14506070 probinson 18.03.2012
+MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA MIM:606350 APRATAXIN APTX HP:0000764 Peripheral axonal degeneration PCS PCS OMIM:208920 probinson 18.03.2012
+MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA MIM:606350 APRATAXIN APTX HP:0003621 Juvenile onset PCS PCS OMIM:208920 probinson 18.03.2012
+MIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA MIM:606350 APRATAXIN APTX HP:0003590 Adolescent onset PCS PCS OMIM:208920 probinson 18.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-216400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-216400.tab 2012-03-18 11:52:05 UTC (rev 4199)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-216400.tab 2012-03-18 15:37:51 UTC (rev 4200)
@@ -56,7 +56,6 @@
MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0002866 Hypoplastic iliac wings IEA IEA 17.02.2009
MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0001376 Decreased mobility of joints IEA IEA 17.02.2009
MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0003130 Abnormal peripheral myelination IEA IEA 17.02.2009
-MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0003151 Disturbed visual and brainstem auditory evoked responses indicative of CNS demyelination IEA IEA 17.02.2009
MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0003224 Increased cellular sensitivity to UV light IEA IEA 17.02.2009
MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0003278 Small, squared off pelvis IEA IEA 17.02.2009
MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0003357 Thymic hormone decreased IEA IEA 17.02.2009
@@ -65,3 +64,5 @@
MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0007495 Prematurely aged appearance IEA IEA 17.02.2009
MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0008850 Severe postnatal growth retardation IEA IEA 17.02.2009
MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0010234 Ivory epiphyses of the phalanges of the hand IEA IEA 17.02.2009
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0006958 Abnormal auditory evoked potentials PCS PCS MIM:216400 probinson 18.03.2012
+MIM:216400 COCKAYNE SYNDROME, TYPE A MIM:609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8 ERCC8 HP:0000649 Abnormality of vision evoked potentials PCS PCS MIM:216400 probinson 18.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-216411.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-216411.tab 2012-03-18 11:52:05 UTC (rev 4199)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-216411.tab 2012-03-18 15:37:51 UTC (rev 4200)
@@ -19,10 +19,11 @@
MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0002343 Normal pressure hydrocephalus IEA IEA 17.02.2009
MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0002514 Cerebral calcification IEA IEA 17.02.2009
MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0003130 Abnormal peripheral myelination IEA IEA 17.02.2009
-MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0003151 Disturbed visual and brainstem auditory evoked responses indicative of CNS demyelination IEA IEA 17.02.2009
MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0003357 Thymic hormone decreased IEA IEA 17.02.2009
MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0004334 Dermal atrophy IEA IEA 17.02.2009
MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0007495 Prematurely aged appearance IEA IEA 17.02.2009
MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0001176 Large hands PCS PCS MIM:216411 probinson 17.03.2012
MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0001833 Large feet PCS PCS MIM:216411 probinson 17.03.2012
MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0003130 Abnormal peripheral myelination PCS PCS MIM:216411 probinson 17.03.2012
+MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0006958 Abnormal auditory evoked potentials PCS PCS MIM:216411 probinson 18.03.2012
+MIM:216411 COCKAYNE SYNDROME, TYPE III HP:0000649 Abnormality of vision evoked potentials PCS PCS MIM:216411 probinson 18.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-229310.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-229310.tab 2012-03-18 11:52:05 UTC (rev 4199)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-229310.tab 2012-03-18 15:37:51 UTC (rev 4200)
@@ -1,25 +1,29 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0000007 IEA 17.02.2009
-MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0000639 IEA 17.02.2009
-MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0001087 IEA 17.02.2009
-MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0001253 FMA:67944 HP:0001251 IEA 17.02.2009
-MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0001260 IEA 17.02.2009
-MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0001316 IEA 17.02.2009
-MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0001427 GO:0005739 HP:0000005 ITM 17.02.2009
-MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0001635 GO:0060047 PATO:0001641 IEA 17.02.2009
-MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0001672 IEA 17.02.2009
-MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0001691 IEA 17.02.2009
-MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0001761 IEA 17.02.2009
-MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0001765 IEA 17.02.2009
-MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0001953 IEA 17.02.2009
-MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0002375 ITM 17.02.2009
-MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0002495 IEA 17.02.2009
-MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0002650 PATO:0002049 IEA PATO:0001869 17.02.2009
-MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0003115 IEA 17.02.2009
-MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0003116 IEA 17.02.2009
-MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0003133 IEA 17.02.2009
-MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0003134 IEA 17.02.2009
-MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0003209 IEA 17.02.2009
-MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0003232 IEA 17.02.2009
-MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0003487 IEA 17.02.2009
-MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0003659 IEA 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
+MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0000639 Nystagmus IEA IEA 17.02.2009
+MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0001087 Congenital glaucoma IEA IEA 17.02.2009
+MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0001260 Dysarthria IEA IEA 17.02.2009
+MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0001427 Mitochondrial inheritance ITM ITM 17.02.2009
+MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0001635 Congestive heart failure IEA IEA 17.02.2009
+MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0001672 Symmetric, concentric, hypertrophic cardiomyopathy IEA IEA 17.02.2009
+MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0001691 Muscular subvalvular aortic stenosis IEA IEA 17.02.2009
+MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0001761 Pes cavus IEA IEA 17.02.2009
+MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0001765 Hammertoe IEA IEA 17.02.2009
+MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0001953 Diabetic ketoacidosis IEA IEA 17.02.2009
+MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0002375 Hypokinesia ITM ITM 17.02.2009
+MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0002495 Impaired vibratory sensation IEA IEA 17.02.2009
+MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0002650 Scoliosis IEA IEA 17.02.2009
+MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0003115 Abnormal EKG IEA IEA 17.02.2009
+MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0003209 Decreased pyruvate carboxylase activity IEA IEA 17.02.2009
+MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0003232 Mitochondrial malic enzyme reduced IEA IEA 17.02.2009
+MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0003487 Babinski sign IEA IEA 17.02.2009
+MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0001251 Ataxia PCS PCS MIM:229310 18.03.2012
+MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0003621 Juvenile onset PCS PCS MIM:229310 18.03.2012
+MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0001315 Reduced reflexes PCS PCS MIM:229310 18.03.2012
+MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0001639 Hypertrophic cardiomyopathy PCS PCS MIM:229310 18.03.2012
+MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0003133 Abnormality of the spinocerebellar tracts PCS PCS MIM:229310 18.03.2012
+MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0011441 Abnormality of the medulla oblongata PCS PCS MIM:229310 18.03.2012
+MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0011397 Abnormality of the dorsal column of the spinal cord PCS PCS MIM:229310 18.03.2012
+MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0002062 Abnormality of the pyramidal tracts PCS PCS MIM:229310 18.03.2012
+MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0003431 Decreased motor nerve conduction velocity PCS PCS MIM:229310 18.03.2012
+MIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA HP:0003448 Decreased sensory nerve conduction velocity PCS PCS MIM:229310 18.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-302900.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-302900.tab 2012-03-18 11:52:05 UTC (rev 4199)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-302900.tab 2012-03-18 15:37:51 UTC (rev 4200)
@@ -15,8 +15,6 @@
MIM:302900 CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA, HP:0002650 Scoliosis IEA IEA 17.02.2009
MIM:302900 CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA, HP:0003115 Abnormal EKG IEA IEA 17.02.2009
MIM:302900 CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA, HP:0003116 Abnormal echocardiogram IEA IEA 17.02.2009
-MIM:302900 CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA, HP:0003133 Abnormal spinocerebellar tracts, dorsal columns, pyramidal tracts, cerebellum and medulla IEA IEA 17.02.2009
-MIM:302900 CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA, HP:0003134 Abnormal motor and sensory nerve conduction IEA IEA 17.02.2009
MIM:302900 CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA, HP:0003209 Decreased pyruvate carboxylase activity IEA IEA 17.02.2009
MIM:302900 CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA, HP:0003232 Mitochondrial malic enzyme reduced IEA IEA 17.02.2009
MIM:302900 CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA, HP:0003376 Steppage gait IEA IEA 17.02.2009
@@ -28,3 +26,9 @@
MIM:302900 CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA, HP:0008954 Intrinsic hand muscles weakness and atrophy IEA IEA 17.02.2009
MIM:302900 CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA, HP:0008963 Tibialis weakness IEA IEA 17.02.2009
MIM:302900 CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA, HP:0011399 Tibialis atrophy IEA IEA 12.03.2012
+MIM:302900 CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA, HP:0003431 Decreased motor nerve conduction velocity PCS PCS MIM:302900 probinson 18.03.2012
+MIM:302900 CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA, HP:0003448 Decreased sensory nerve conduction velocity PCS PCS MIM:302900 probinson 18.03.2012
+MIM:302900 CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA, HP:0003133 Abnormality of the spinocerebellar tracts PCS PCS MIM:302900 probinson 18.03.2012
+MIM:302900 CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA, HP:0002062 Abnormality of the pyramidal tracts PCS PCS MIM:302900 probinson 18.03.2012
+MIM:302900 CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA, HP:0011397 Abnormality of the dorsal column of the spinal cord PCS PCS MIM:302900 probinson 18.03.2012
+MIM:302900 CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA, HP:0011441 Abnormality of the medulla oblongata PCS PCS MIM:302900 probinson 18.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-601455.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-601455.tab 2012-03-18 11:52:05 UTC (rev 4199)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-601455.tab 2012-03-18 15:37:51 UTC (rev 4200)
@@ -1,23 +1,22 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NDRG1 HP:0000007 IEA 17.02.2009
-MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NDRG1 HP:0000404 GO:0007605 PATO:0000462 IEA 17.02.2009
-MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NDRG1 HP:0001155 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NDRG1 HP:0001265 IEA 17.02.2009
-MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NDRG1 HP:0001284 IEA 17.02.2009
-MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NDRG1 HP:0001288 ITM 17.02.2009
-MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NDRG1 HP:0002934 IEA 17.02.2009
-MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NDRG1 HP:0002935 IEA 17.02.2009
-MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NDRG1 HP:0002936 FMA:30327 HP:0003474 IEA 17.02.2009
-MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NDRG1 HP:0003383 IEA 17.02.2009
-MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NDRG1 HP:0003425 IEA 17.02.2009
-MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NDRG1 HP:0003447 IEA 17.02.2009
-MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NDRG1 HP:0003497 FMA:7182 HP:0002460 ITM 17.02.2009
-MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NDRG1 HP:0003582 IEA 17.02.2009
-MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NDRG1 HP:0003693 _:distal_muscle PATO:0001623 ITM 17.02.2009
-MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NDRG1 HP:0004696 IEA 17.02.2009
-MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NDRG1 HP:0004806 ITM 17.02.2009
-MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NDRG1 HP:0006916 IEA 17.02.2009
-MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NDRG1 HP:0006923 IEA 17.02.2009
-MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NDRG1 HP:0006958 ITM 17.02.2009
-MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NDRG1 HP:0007107 ITM 17.02.2009
-MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NDRG1 HP:0007231 IEA 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
+MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NMYC DOWNSTREAM-REGULATED GENE 1 NDRG1 HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NMYC DOWNSTREAM-REGULATED GENE 1 NDRG1 HP:0000404 Deafness IEA IEA 17.02.2009
+MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NMYC DOWNSTREAM-REGULATED GENE 1 NDRG1 HP:0006923 Abnormal brainstem auditory evoked potentials, suggesting demyelination IEA IEA 17.02.2009
+MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NMYC DOWNSTREAM-REGULATED GENE 1 NDRG1 HP:0001265 Hyporeflexia IEA IEA 17.02.2009
+MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NMYC DOWNSTREAM-REGULATED GENE 1 NDRG1 HP:0001284 Areflexia IEA IEA 17.02.2009
+MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NMYC DOWNSTREAM-REGULATED GENE 1 NDRG1 HP:0001288 Gait disturbance ITM ITM 17.02.2009
+MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NMYC DOWNSTREAM-REGULATED GENE 1 NDRG1 HP:0002934 Distal limb muscle atrophy due to peripheral neuropathy IEA IEA 17.02.2009
+MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NMYC DOWNSTREAM-REGULATED GENE 1 NDRG1 HP:0002935 Distal limb muscle weakness due to peripheral neuropathy IEA IEA 17.02.2009
+MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NMYC DOWNSTREAM-REGULATED GENE 1 NDRG1 HP:0002936 Distal sensory impairment IEA IEA 17.02.2009
+MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NMYC DOWNSTREAM-REGULATED GENE 1 NDRG1 HP:0003383 Onion bulb formation IEA IEA 17.02.2009
+MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NMYC DOWNSTREAM-REGULATED GENE 1 NDRG1 HP:0003447 Axonal loss IEA IEA 17.02.2009
+MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NMYC DOWNSTREAM-REGULATED GENE 1 NDRG1 HP:0003621 Juvenile onset IEA IEA 17.02.2009
+MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NMYC DOWNSTREAM-REGULATED GENE 1 NDRG1 HP:0003693 Distal amyotrophy ITM ITM 17.02.2009
+MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NMYC DOWNSTREAM-REGULATED GENE 1 NDRG1 HP:0004696 talipes cavus equinovarus IEA IEA 17.02.2009
+MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NMYC DOWNSTREAM-REGULATED GENE 1 NDRG1 HP:0004806 Chronic immune thrombocytopenia ITM ITM 17.02.2009
+MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NMYC DOWNSTREAM-REGULATED GENE 1 NDRG1 HP:0006916 Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material IEA IEA 17.02.2009
+MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NMYC DOWNSTREAM-REGULATED GENE 1 NDRG1 HP:0007107 Segmental peripheral demyelination ITM ITM 17.02.2009
+MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NMYC DOWNSTREAM-REGULATED GENE 1 NDRG1 HP:0003481 Segmental peripheral demyelination/remyelination PCS PCS MIM:601455 probinson 18.03.2012
+MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NMYC DOWNSTREAM-REGULATED GENE 1 NDRG1 HP:0006958 Abnormal auditory evoked potentials PCS PCS MIM:601455 probinson 18.03.2012
+MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NMYC DOWNSTREAM-REGULATED GENE 1 NDRG1 HP:0000762 Decreased nerve conduction velocity PCS PCS MIM:601455 probinson 18.03.2012
+MIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D MIM:605262 NMYC DOWNSTREAM-REGULATED GENE 1 NDRG1 HP:0000649 Abnormality of vision evoked potentials PCS PCS MIM:601455 probinson 18.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-601992.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-601992.tab 2012-03-18 11:52:05 UTC (rev 4199)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-601992.tab 2012-03-18 15:37:51 UTC (rev 4200)
@@ -1,25 +1,29 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:601992 FRIEDREICH ATAXIA 2 HP:0000007 IEA 17.02.2009
-MIM:601992 FRIEDREICH ATAXIA 2 HP:0000639 IEA 17.02.2009
-MIM:601992 FRIEDREICH ATAXIA 2 HP:0001253 FMA:67944 HP:0001251 IEA 17.02.2009
-MIM:601992 FRIEDREICH ATAXIA 2 HP:0001260 IEA 17.02.2009
-MIM:601992 FRIEDREICH ATAXIA 2 HP:0001316 IEA 17.02.2009
-MIM:601992 FRIEDREICH ATAXIA 2 HP:0001427 GO:0005739 HP:0000005 ITM 17.02.2009
-MIM:601992 FRIEDREICH ATAXIA 2 HP:0001635 GO:0060047 PATO:0001641 IEA 17.02.2009
-MIM:601992 FRIEDREICH ATAXIA 2 HP:0001672 IEA 17.02.2009
-MIM:601992 FRIEDREICH ATAXIA 2 HP:0001691 IEA 17.02.2009
-MIM:601992 FRIEDREICH ATAXIA 2 HP:0001761 IEA 17.02.2009
-MIM:601992 FRIEDREICH ATAXIA 2 HP:0001765 IEA 17.02.2009
-MIM:601992 FRIEDREICH ATAXIA 2 HP:0001953 IEA 17.02.2009
-MIM:601992 FRIEDREICH ATAXIA 2 HP:0002276 FMA:7182 HP:0002311 IEA 17.02.2009
-MIM:601992 FRIEDREICH ATAXIA 2 HP:0002375 ITM 17.02.2009
-MIM:601992 FRIEDREICH ATAXIA 2 HP:0002495 IEA 17.02.2009
-MIM:601992 FRIEDREICH ATAXIA 2 HP:0002650 PATO:0002049 IEA PATO:0001869 17.02.2009
-MIM:601992 FRIEDREICH ATAXIA 2 HP:0003115 IEA 17.02.2009
-MIM:601992 FRIEDREICH ATAXIA 2 HP:0003116 IEA 17.02.2009
-MIM:601992 FRIEDREICH ATAXIA 2 HP:0003133 IEA 17.02.2009
-MIM:601992 FRIEDREICH ATAXIA 2 HP:0003134 IEA 17.02.2009
-MIM:601992 FRIEDREICH ATAXIA 2 HP:0003209 IEA 17.02.2009
-MIM:601992 FRIEDREICH ATAXIA 2 HP:0003232 IEA 17.02.2009
-MIM:601992 FRIEDREICH ATAXIA 2 HP:0003487 IEA 17.02.2009
-MIM:601992 FRIEDREICH ATAXIA 2 HP:0003659 IEA 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
+MIM:601992 FRIEDREICH ATAXIA 2 HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:601992 FRIEDREICH ATAXIA 2 HP:0000639 Nystagmus IEA IEA 17.02.2009
+MIM:601992 FRIEDREICH ATAXIA 2 HP:0001260 Dysarthria IEA IEA 17.02.2009
+MIM:601992 FRIEDREICH ATAXIA 2 HP:0001427 Mitochondrial inheritance ITM ITM 17.02.2009
+MIM:601992 FRIEDREICH ATAXIA 2 HP:0001635 Congestive heart failure IEA IEA 17.02.2009
+MIM:601992 FRIEDREICH ATAXIA 2 HP:0001672 Symmetric, concentric, hypertrophic cardiomyopathy IEA IEA 17.02.2009
+MIM:601992 FRIEDREICH ATAXIA 2 HP:0001691 Muscular subvalvular aortic stenosis IEA IEA 17.02.2009
+MIM:601992 FRIEDREICH ATAXIA 2 HP:0001761 Pes cavus IEA IEA 17.02.2009
+MIM:601992 FRIEDREICH ATAXIA 2 HP:0001765 Hammertoe IEA IEA 17.02.2009
+MIM:601992 FRIEDREICH ATAXIA 2 HP:0001953 Diabetic ketoacidosis IEA IEA 17.02.2009
+MIM:60199...
[truncated message content] |
|
From: <pr...@us...> - 2012-03-18 22:13:24
|
Revision: 4201
http://obo.svn.sourceforge.net/obo/?rev=4201&view=rev
Author: probins
Date: 2012-03-18 22:13:15 +0000 (Sun, 18 Mar 2012)
Log Message:
-----------
More corrected annotation files
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/MIM-133750.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-145290.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-163950.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-242850.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-278700.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-278730.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-278800.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-310350.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-600384.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-601104.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-609454.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-278700.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-278730.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-278800.tab
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-133750.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-145290.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-163950.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-193700.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-229310.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-242850.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-310350.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-600384.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-601104.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-601455.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-601992.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-609454.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-133750.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-133750.tab 2012-03-18 15:37:51 UTC (rev 4200)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-133750.tab 2012-03-18 22:13:15 UTC (rev 4201)
@@ -1,7 +1,7 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:133750 EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATIONAND MICROCEPHALY HP:0000006 IEA 17.02.2009
-MIM:133750 EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATIONAND MICROCEPHALY HP:0000252 FMA:46565 PATO:0000587 IEA 17.02.2009
-MIM:133750 EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATIONAND MICROCEPHALY HP:0000953 GO:0043473 PATO:0000912 IEA 17.02.2009
-MIM:133750 EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATIONAND MICROCEPHALY HP:0001286 IEA 17.02.2009
-MIM:133750 EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATIONAND MICROCEPHALY HP:0001509 FMA:20394 PATO:0000569 IEA 17.02.2009
-MIM:133750 EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATIONAND MICROCEPHALY HP:0006682 IEA 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
+MIM:133750 EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATION HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:133750 EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATION HP:0000252 Microcephaly IEA IEA 17.02.2009
+MIM:133750 EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATION IEA IEA 17.02.2009
+MIM:133750 EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATION HP:0004322 Short stature PCS PCS MIM:133750 probinson 18.03.2012
+MIM:133750 EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATION HP:0000953 Hyperpigmentation of the skin PCS PCS MIM:133750 probinson 18.03.2012
+MIM:133750 EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATION HP:0006889 Intellectual disability, borderline PCS PCS MIM:133750 probinson 18.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-145290.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-145290.tab 2012-03-18 15:37:51 UTC (rev 4200)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-145290.tab 2012-03-18 22:13:15 UTC (rev 4201)
@@ -1,5 +1,6 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:145290 HYPERREFLEXIA HP:0000006 IEA 17.02.2009
-MIM:145290 HYPERREFLEXIA HP:0000252 FMA:46565 PATO:0000587 IEA 17.02.2009
-MIM:145290 HYPERREFLEXIA HP:0001347 IEA 17.02.2009
-MIM:145290 HYPERREFLEXIA HP:0007743 IEA 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
+MIM:145290 HYPERREFLEXIA HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:145290 HYPERREFLEXIA HP:0000252 Microcephaly IEA IEA 17.02.2009
+MIM:145290 HYPERREFLEXIA HP:0001347 Hyperreflexia IEA IEA 17.02.2009
+MIM:145290 HYPERREFLEXIA HP:0008051 Abnormality of the retinal pigment epithelium PCS PCS MIM:145290 probinson 18.03.2012
+MIM:145290 HYPERREFLEXIA HP:0002325 Ankle or knee clonus PCS PCS MIM:145290 probinson 18.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-163950.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-163950.tab 2012-03-18 15:37:51 UTC (rev 4200)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-163950.tab 2012-03-18 22:13:15 UTC (rev 4201)
@@ -1,39 +1,39 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:163950 NOONAN SYNDROME 1 MIM:176876 PTPN11 HP:0000006 IEA 17.02.2009
-MIM:163950 NOONAN SYNDROME 1 MIM:176876 PTPN11 HP:0000028 IEA 17.02.2009
-MIM:163950 NOONAN SYNDROME 1 MIM:176876 PTPN11 HP:0000156 IEA 17.02.2009
-MIM:163950 NOONAN SYNDROME 1 MIM:176876 PTPN11 HP:0000210 FMA:54396 PATO:0000587 IEA 17.02.2009
-MIM:163950 NOONAN SYNDROME 1 MIM:176876 PTPN11 HP:0000286 IEA 17.02.2009
-MIM:163950 NOONAN SYNDROME 1 MIM:176876 PTPN11 HP:0000316 FMA:54450 PATO:0000374 FMA:54449 IEA 17.02.2009
-MIM:163950 NOONAN SYNDROME 1 MIM:176876 PTPN11 HP:0000368 IEA 17.02.2009
-MIM:163950 NOONAN SYNDROME 1 MIM:176876 PTPN11 HP:0000374 FMA:65132 HP:0000404 IEA 17.02.2009
-MIM:163950 NOONAN SYNDROME 1 MIM:176876 PTPN11 HP:0000465 IEA 17.02.2009
-MIM:163950 NOONAN SYNDROME 1 MIM:176876 PTPN11 HP:0000476 IEA 17.02.2009
-MIM:163950 NOONAN SYNDROME 1 MIM:176876 PTPN11 HP:0000494 IEA 17.02.2009
-MIM:163950 NOONAN SYNDROME 1 MIM:176876 PTPN11 HP:0000508 IEA 17.02.2009
-MIM:163950 NOONAN SYNDROME 1 MIM:176876 PTPN11 HP:0000545 IEA 17.02.2009
-MIM:163950 NOONAN SYNDROME 1 MIM:176876 PTPN11 HP:0000689 IEA 17.02.2009
-MIM:163950 NOONAN SYNDROME 1 MIM:176876 PTPN11 HP:0000914 IEA 17.02.2009
-MIM:163950 NOONAN SYNDROME 1 MIM:176876 PTPN11 HP:0000915 IEA 17.02.2009
-MIM:163950 NOONAN SYNDROME 1 MIM:176876 PTPN11 HP:0000917 IEA 17.02.2009
-MIM:163950 NOONAN SYNDROME 1 MIM:176876 PTPN11 HP:0000925 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:163950 NOONAN SYNDROME 1 MIM:176876 PTPN11 HP:0001004 IEA 17.02.2009
-MIM:163950 NOONAN SYNDROME 1 MIM:176876 PTPN11 HP:0001156 IEA 17.02.2009
-MIM:163950 NOONAN SYNDROME 1 MIM:176876 PTPN11 HP:0001157 FMA:9666 PATO:0000140 IEA PATO:0000460 17.02.2009
-MIM:163950 NOONAN SYNDROME 1 MIM:176876 PTPN11 HP:0001249 IEA 17.02.2009
-MIM:163950 NOONAN SYNDROME 1 MIM:176876 PTPN11 HP:0001425 ITM 17.02.2009
-MIM:163950 NOONAN SYNDROME 1 MIM:176876 PTPN11 HP:0001531 IEA 17.02.2009
-MIM:163950 NOONAN SYNDROME 1 MIM:176876 PTPN11 HP:0001629 FMA:7133 PATO:0000609 IEA 17.02.2009
-MIM:163950 NOONAN SYNDROME 1 MIM:176876 PTPN11 HP:0001631 IEA 17.02.2009
-MIM:163950 NOONAN SYNDROME 1 MIM:176876 PTPN11 HP:0001642 FMA:8615 PATO:0000599 IEA 17.02.2009
-MIM:163950 NOONAN SYNDROME 1 MIM:176876 PTPN11 HP:0001643 IEA 17.02.2009
-MIM:163950 NOONAN SYNDROME 1 MIM:176876 PTPN11 HP:0001892 IEA 17.02.2009
-MIM:163950 NOONAN SYNDROME 1 MIM:176876 PTPN11 HP:0002162 IEA 17.02.2009
-MIM:163950 NOONAN SYNDROME 1 MIM:176876 PTPN11 HP:0002664 IEA 17.02.2009
-MIM:163950 NOONAN SYNDROME 1 MIM:176876 PTPN11 HP:0002967 IEA 17.02.2009
-MIM:163950 NOONAN SYNDROME 1 MIM:176876 PTPN11 HP:0003251 ITM 17.02.2009
-MIM:163950 NOONAN SYNDROME 1 MIM:176876 PTPN11 HP:0003501 ITM 17.02.2009
-MIM:163950 NOONAN SYNDROME 1 MIM:176876 PTPN11 HP:0004645 IEA 17.02.2009
-MIM:163950 NOONAN SYNDROME 1 MIM:176876 PTPN11 HP:0004859 IEA 17.02.2009
-MIM:163950 NOONAN SYNDROME 1 MIM:176876 PTPN11 HP:0008286 IEA 17.02.2009
-MIM:163950 NOONAN SYNDROME 1 MIM:176876 PTPN11 HP:0008357 IEA 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
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0000028 Cryptorchidism IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0000156 High-arched palate IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0000286 Epicanthus IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0000316 Hypertelorism IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0000368 Low-set, posteriorly rotated ears IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0000465 Webbed neck IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0000476 Cystic hygroma IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0000494 Downslanted palpebral fissures IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0000508 Ptosis IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0000545 Myopia IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0000689 Dental malocclusion IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0000914 Shield chest IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0000915 Pectus excavatum inferiorly IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0000917 Pectus carinatum superiorly IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0000925 Abnormality of the vertebral column IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0001004 Lymphedema IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0001156 Brachydactyly IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0001425 Heterogeneous ITM ITM 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0001531 Failure to thrive in infancy IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0001629 Ventricular septal defect IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0001631 Atrial septal defect IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0001642 Pulmonic stenosis IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0001643 Patent ductus arteriosus IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0001892 Bleeding diathesis IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0002162 Low posterior hairline IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0002664 Neoplasm IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0002967 Cubitus valgus IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0003251 Male infertility ITM ITM 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0004859 Amegakaryocytic thrombocytopenia IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0008286 Partial deficiency of factor xii:c IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0008357 Partial deficiency of factor XIII:C IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0000347 Micrognathia PCS PCS MIM:163950 probinson 18.03.2012
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0000407 Sensorineural hearing impairment PCS PCS MIM:163950 probinson 18.03.2012
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0009466 Radial deviation of finger PCS PCS MIM:163950 probinson 18.03.2012
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0008897 Postnatal growth retardation PCS PCS MIM:163950 probinson 18.03.2012
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0000325 Triangular face PCS PCS MIM:163950 probinson 18.03.2012
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0001249 Intellectual disability PCS PCS 25% MIM:163950 probinson 18.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-242850.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-242850.tab 2012-03-18 15:37:51 UTC (rev 4200)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-242850.tab 2012-03-18 22:13:15 UTC (rev 4201)
@@ -1,7 +1,8 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:242850 IMMUNE DEFICIENCY DISEASE HP:0000007 IEA 17.02.2009
-MIM:242850 IMMUNE DEFICIENCY DISEASE HP:0004787 IEA 17.02.2009
-MIM:242850 IMMUNE DEFICIENCY DISEASE HP:0005363 IEA 17.02.2009
-MIM:242850 IMMUNE DEFICIENCY DISEASE HP:0005375 IEA 17.02.2009
-MIM:242850 IMMUNE DEFICIENCY DISEASE HP:0005385 IEA 17.02.2009
-MIM:242850 IMMUNE DEFICIENCY DISEASE HP:0005410 ITM 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
+MIM:242850 IMMUNE DEFICIENCY DISEASE HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:242850 IMMUNE DEFICIENCY DISEASE HP:0004787 Fulminant hepatitis IEA IEA 17.02.2009
+MIM:242850 IMMUNE DEFICIENCY DISEASE HP:0005363 Partial humoral immunodeficiency IEA IEA 17.02.2009
+MIM:242850 IMMUNE DEFICIENCY DISEASE HP:0005375 Partial cellular immunodeficiency IEA IEA 17.02.2009
+MIM:242850 IMMUNE DEFICIENCY DISEASE HP:0005385 Severe IgM deficiency IEA IEA 17.02.2009
+MIM:242850 IMMUNE DEFICIENCY DISEASE HP:0002718 Recurrent bacterial infections PCS PCS MIM:242850 probinson 18.03.2012
+MIM:242850 IMMUNE DEFICIENCY DISEASE HP:0004429 Recurrent viral infections PCS PCS MIM:242850 probinson 18.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-278700.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-278700.tab 2012-03-18 15:37:51 UTC (rev 4200)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-278700.tab 2012-03-18 22:13:15 UTC (rev 4201)
@@ -7,7 +7,7 @@
MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA GENE XPA HP:0000613 Photophobia IEA IEA 17.02.2009
MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA GENE XPA HP:0000621 Entropion IEA IEA 17.02.2009
MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA GENE XPA HP:0000656 Ectropion IEA IEA 17.02.2009
-MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA GENE XPA HP:0000992 Photosensitivity IEA IEA 17.02.2009
+MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA GENE XPA HP:0000992 Cutaneous photosensitivity IEA IEA 17.02.2009
MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA GENE XPA HP:0001009 Telangiectasia IEA IEA 17.02.2009
MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA GENE XPA HP:0001029 Poikiloderma IEA IEA 17.02.2009
MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA GENE XPA HP:0001251 Ataxia IEA IEA 17.02.2009
@@ -15,7 +15,7 @@
MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA GENE XPA HP:0001265 Hyporeflexia IEA IEA 17.02.2009
MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA GENE XPA HP:0001266 Choreoathetosis IEA IEA 17.02.2009
MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA GENE XPA HP:0001268 Mental deterioration IEA IEA 17.02.2009
-MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA GENE XPA HP:0001286 Low intelligence IEA IEA 17.02.2009
MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA GENE XPA HP:0003079 Defective DNA repair after ultraviolet radiation damage IEA IEA 17.02.2009
MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA GENE XPA HP:0003593 Infantile onset ITM ITM 17.02.2009
MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA GENE XPA HP:0004334 Dermal atrophy IEA IEA 17.02.2009
+MIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A MIM:611153 XPA GENE XPA HP:0001249 Intellectual disability PCS PCS MIM:278700 probinson 18.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-278730.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-278730.tab 2012-03-18 15:37:51 UTC (rev 4200)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-278730.tab 2012-03-18 22:13:15 UTC (rev 4201)
@@ -7,7 +7,7 @@
MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0000613 Photophobia IEA IEA 17.02.2009
MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0000621 Entropion IEA IEA 17.02.2009
MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0000656 Ectropion IEA IEA 17.02.2009
-MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0000992 Photosensitivity IEA IEA 17.02.2009
+MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0000992 Cutaneous photosensitivity IEA IEA 17.02.2009
MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0001009 Telangiectasia IEA IEA 17.02.2009
MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0001029 Poikiloderma IEA IEA 17.02.2009
MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0001251 Ataxia IEA IEA 17.02.2009
@@ -15,10 +15,9 @@
MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0001265 Hyporeflexia IEA IEA 17.02.2009
MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0001266 Choreoathetosis IEA IEA 17.02.2009
MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0001268 Mental deterioration IEA IEA 17.02.2009
-MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0001286 Low intelligence IEA IEA 17.02.2009
MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0001480 Freckling ITM ITM 17.02.2009
MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0003079 Defective DNA repair after ultraviolet radiation damage IEA IEA 17.02.2009
MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0003241 Genital hypoplasia ITM ITM 17.02.2009
-MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0003584 Late onset ITM ITM 17.02.2009
MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0003593 Infantile onset ITM ITM 17.02.2009
MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0004334 Dermal atrophy IEA IEA 17.02.2009
+MIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D MIM:126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 ERCC2 HP:0001249 Intellectual disability PCS PCS MIM:278730 probinson 18.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-278800.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-278800.tab 2012-03-18 15:37:51 UTC (rev 4200)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-278800.tab 2012-03-18 22:13:15 UTC (rev 4201)
@@ -1,27 +1,27 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0000007 IEA 17.02.2009
-MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0000252 FMA:46565 PATO:0000587 IEA 17.02.2009
-MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0000374 FMA:65132 HP:0000404 IEA 17.02.2009
-MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0000491 IEA 17.02.2009
-MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0000509 IEA 17.02.2009
-MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0000613 IEA 17.02.2009
-MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0000621 IEA 17.02.2009
-MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0000656 FMA:54437 PATO:0001597 IEA 17.02.2009
-MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0000992 FMA:54448 PATO:0000927 IEA 17.02.2009
-MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0001009 IEA 17.02.2009
-MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0001029 IEA 17.02.2009
-MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0001251 GO:0050881 PATO:0000770 IEA 17.02.2009
-MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0001257 IEA 17.02.2009
-MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0001265 IEA 17.02.2009
-MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0001266 IEA 17.02.2009
-MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0001268 IEA 17.02.2009
-MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0001284 IEA 17.02.2009
-MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0001286 IEA 17.02.2009
-MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0001480 ITM 17.02.2009
-MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0001516 IEA 17.02.2009
-MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0003079 IEA 17.02.2009
-MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0003593 ITM 17.02.2009
-MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0004334 FMA:7163 PATO:0001623 IEA 17.02.2009
-MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0002542 IEA 28.12.2011
-MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0001272 IEA 28.12.2011
-MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 ERCC6 HP:0008639 FMA:18250 PATO:0000645 IEA 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
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000252 Microcephaly IEA IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000491 Keratitis IEA IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000509 Conjunctivitis IEA IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000613 Photophobia IEA IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000621 Entropion IEA IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000656 Ectropion IEA IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000992 Cutaneous photosensitivity IEA IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0001009 Telangiectasia IEA IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0001029 Poikiloderma IEA IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0001251 Ataxia IEA IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0001257 Spasticity IEA IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0001265 Hyporeflexia IEA IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0001266 Choreoathetosis IEA IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0001268 Mental deterioration IEA IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0001284 Areflexia IEA IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0001480 Freckling ITM ITM 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0003079 Defective DNA repair after ultraviolet radiation damage IEA IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0003593 Infantile onset ITM ITM 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0004334 Dermal atrophy IEA IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0002542 Olivopontocerebellar atrophy IEA IEA 28.12.2011
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0001272 Cerebellar atrophy IEA IEA 28.12.2011
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0008639 Gonadal hypoplasia IEA IEA 17.02.2009
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0000407 Sensorineural hearing impairment PCS PCS MIM:278800 probinson 18.03.2012
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0003510 Severe short stature PCS PCS MIM:278800 probinson 18.03.2012
+MIM:278800 DE SANCTIS-CACCHIONE SYNDROME MIM:609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 ERCC6 HP:0001249 Intellectual disability PCS PCS MIM:278800 probinson 18.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-310350.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-310350.tab 2012-03-18 15:37:51 UTC (rev 4200)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-310350.tab 2012-03-18 22:13:15 UTC (rev 4201)
@@ -1,4 +1,5 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:310350 MYELOLYMPHATIC INSUFFICIENCY HP:0001417 IEA 17.02.2009
-MIM:310350 MYELOLYMPHATIC INSUFFICIENCY HP:0001882 IEA 17.02.2009
-MIM:310350 MYELOLYMPHATIC INSUFFICIENCY HP:0005410 IEA 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
+MIM:310350 MYELOLYMPHATIC INSUFFICIENCY HP:0001417 X-linked inheritance IEA IEA 17.02.2009
+MIM:310350 MYELOLYMPHATIC INSUFFICIENCY HP:0001882 Leukopenia IEA IEA 17.02.2009
+MIM:310350 MYELOLYMPHATIC INSUFFICIENCY HP:0002718 Recurrent bacterial infections IEA IEA MIM:310350 probinson 18.03.2012
+MIM:310350 MYELOLYMPHATIC INSUFFICIENCY HP:0004429 Recurrent viral infections IEA IEA MIM:310350 probinson 18.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-600384.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-600384.tab 2012-03-18 15:37:51 UTC (rev 4200)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-600384.tab 2012-03-18 22:13:15 UTC (rev 4201)
@@ -1,6 +1,7 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:600384 APHALANGIA, PARTIAL, WITH SYNDACTYLY AND DUPLICATION OF METATARSALIV HP:0000006 IEA 17.02.2009
-MIM:600384 APHALANGIA, PARTIAL, WITH SYNDACTYLY AND DUPLICATION OF METATARSALIV HP:0000252 FMA:46565 PATO:0000587 IEA 17.02.2009
-MIM:600384 APHALANGIA, PARTIAL, WITH SYNDACTYLY AND DUPLICATION OF METATARSALIV HP:0001159 FMA:85518 PATO:0000642 FMA:85518 IEA 17.02.2009
-MIM:600384 APHALANGIA, PARTIAL, WITH SYNDACTYLY AND DUPLICATION OF METATARSALIV HP:0001286 IEA 17.02.2009
-MIM:600384 APHALANGIA, PARTIAL, WITH SYNDACTYLY AND DUPLICATION OF METATARSALIV HP:0001509 FMA:20394 PATO:0000569 IEA 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
+MIM:600384 APHALANGIA, PARTIAL, WITH SYNDACTYLY AND DUPLICATION OF METATARSAL HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:600384 APHALANGIA, PARTIAL, WITH SYNDACTYLY AND DUPLICATION OF METATARSAL HP:0000252 Microcephaly IEA IEA 17.02.2009
+MIM:600384 APHALANGIA, PARTIAL, WITH SYNDACTYLY AND DUPLICATION OF METATARSAL HP:0001159 Syndactyly IEA IEA 17.02.2009
+MIM:600384 APHALANGIA, PARTIAL, WITH SYNDACTYLY AND DUPLICATION OF METATARSAL HP:0004322 Short stature PCS PCS MIM:600384 probinson 18.03.2012
+MIM:600384 APHALANGIA, PARTIAL, WITH SYNDACTYLY AND DUPLICATION OF METATARSAL HP:0001249 Intellectual disability PCS PCS MIM:600384 probinson 18.03.2012
+MIM:600384 APHALANGIA, PARTIAL, WITH SYNDACTYLY AND DUPLICATION OF METATARSAL HP:0001449 Duplication of metatarsal bones PCS PCS MIM:600384 probinson 18.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-601104.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-601104.tab 2012-03-18 15:37:51 UTC (rev 4200)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-601104.tab 2012-03-18 22:13:15 UTC (rev 4201)
@@ -1,35 +1,30 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MAPT HP:0000006 IEA 17.02.2009
-MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MAPT HP:0000605 IEA 17.02.2009
-MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MAPT HP:0000613 IEA 17.02.2009
-MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MAPT HP:0000622 IEA 17.02.2009
-MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MAPT HP:0000651 IEA 17.02.2009
-MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MAPT HP:0000658 FMA:54437 HP:0002186 IEA 17.02.2009
-MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MAPT HP:0000737 IEA 17.02.2009
-MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MAPT HP:0000741 IEA 17.02.2009
-MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MAPT HP:0000743 IEA 17.02.2009
-MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MAPT HP:0000747 IEA 17.02.2009
-MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MAPT HP:0001260 IEA 17.02.2009
-MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MAPT HP:0001300 IEA 17.02.2009
-MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MAPT HP:0001337 IEA 17.02.2009
-MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MAPT HP:0001420 IEA 17.02.2009
-MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MAPT HP:0001425 ITM 17.02.2009
-MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MAPT HP:0002015 GO:0043050 PATO:0001641 IEA 17.02.2009
-MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MAPT HP:0002063 IEA 17.02.2009
-MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MAPT HP:0002067 IEA 17.02.2009
-MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MAPT HP:0002141 IEA 17.02.2009
-MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MAPT HP:0002171 FMA:55675 PATO:0002002 FMA:54537 IEA 17.02.2009
-MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MAPT HP:0002185 IEA 17.02.2009
-MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MAPT HP:0002300 IEA 17.02.2009
-MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MAPT HP:0002304 IEA 17.02.2009
-MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MAPT HP:0002400 ITM 17.02.2009
-MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MAPT HP:0002439 IEA 17.02.2009
-MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MAPT HP:0002451 FMA:7182 HP:0001332 IEA 17.02.2009
-MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MAPT HP:0002481 IEA 17.02.2009
-MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MAPT HP:0002527 IEA 17.02.2009
-MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MAPT HP:0002528 FMA:62493 PATO:0000639 IEA 17.02.2009
-MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MAPT HP:0002529 IEA 17.02.2009
-MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MAPT HP:0002530 FMA:74547 HP:0001332 IEA 17.02.2009
-MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MAPT HP:0002544 IEA 17.02.2009
-MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MAPT HP:0003593 ITM 17.02.2009
-MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MAPT HP:0003667 ITM 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
+MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MICROTUBULE-ASSOCIATED PROTEIN TAU MAPT HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MICROTUBULE-ASSOCIATED PROTEIN TAU MAPT HP:0000605 Supranuclear gaze palsy IEA IEA 17.02.2009
+MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MICROTUBULE-ASSOCIATED PROTEIN TAU MAPT HP:0000613 Photophobia IEA IEA 17.02.2009
+MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MICROTUBULE-ASSOCIATED PROTEIN TAU MAPT HP:0000622 Blurred vision IEA IEA 17.02.2009
+MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MICROTUBULE-ASSOCIATED PROTEIN TAU MAPT HP:0000651 Diplopia IEA IEA 17.02.2009
+MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MICROTUBULE-ASSOCIATED PROTEIN TAU MAPT HP:0000658 Eyelid apraxia IEA IEA 17.02.2009
+MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MICROTUBULE-ASSOCIATED PROTEIN TAU MAPT HP:0000737 Irritability IEA IEA 17.02.2009
+MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MICROTUBULE-ASSOCIATED PROTEIN TAU MAPT HP:0000741 Apathy IEA IEA 17.02.2009
+MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MICROTUBULE-ASSOCIATED PROTEIN TAU MAPT HP:0001260 Dysarthria IEA IEA 17.02.2009
+MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MICROTUBULE-ASSOCIATED PROTEIN TAU MAPT HP:0001300 Parkinsonism IEA IEA 17.02.2009
+MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MICROTUBULE-ASSOCIATED PROTEIN TAU MAPT HP:0002015 Dysphagia IEA IEA 17.02.2009
+MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MICROTUBULE-ASSOCIATED PROTEIN TAU MAPT HP:0002063 Rigidity IEA IEA 17.02.2009
+MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MICROTUBULE-ASSOCIATED PROTEIN TAU MAPT HP:0002067 Bradykinesia IEA IEA 17.02.2009
+MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MICROTUBULE-ASSOCIATED PROTEIN TAU MAPT HP:0002141 Gait imbalance IEA IEA 17.02.2009
+MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MICROTUBULE-ASSOCIATED PROTEIN TAU MAPT HP:0002171 Gliosis IEA IEA 17.02.2009
+MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MICROTUBULE-ASSOCIATED PROTEIN TAU MAPT HP:0002185 Neurofibrillary tangles IEA IEA 17.02.2009
+MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MICROTUBULE-ASSOCIATED PROTEIN TAU MAPT HP:0002300 Mutism IEA IEA 17.02.2009
+MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MICROTUBULE-ASSOCIATED PROTEIN TAU MAPT HP:0002439 Frontolimbic dementia IEA IEA 17.02.2009
+MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MICROTUBULE-ASSOCIATED PROTEIN TAU MAPT HP:0002527 Falls IEA IEA 17.02.2009
+MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MICROTUBULE-ASSOCIATED PROTEIN TAU MAPT HP:0002528 Granulovacuolar degeneration IEA IEA 17.02.2009
+MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MICROTUBULE-ASSOCIATED PROTEIN TAU MAPT HP:0002530 Axial dystonia IEA IEA 17.02.2009
+MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MICROTUBULE-ASSOCIATED PROTEIN TAU MAPT HP:0002544 Retrocollis IEA IEA 17.02.2009
+MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MICROTUBULE-ASSOCIATED PROTEIN TAU MAPT HP:0002529 Neuronal loss in central nervous system PCS PCS MIM:601104 probinson 18.03.2012
+MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MICROTUBULE-ASSOCIATED PROTEIN TAU MAPT HP:0003581 Adult onset PCS PCS MIM:601104 probinson 18.03.2012
+MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MICROTUBULE-ASSOCIATED PROTEIN TAU MAPT HP:0002304 Akinesia PCS PCS MIM:601104 probinson 18.03.2012
+MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MICROTUBULE-ASSOCIATED PROTEIN TAU MAPT HP:0001337 Tremor PCS PCS 30% MIM:601104 probinson 18.03.2012
+MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MICROTUBULE-ASSOCIATED PROTEIN TAU MAPT HP:0002451 Limb dystonia PCS PCS 18% MIM:601104 probinson 18.03.2012
+MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MICROTUBULE-ASSOCIATED PROTEIN TAU MAPT HP:0002354 Memory impairment PCS PCS MIM:601104 probinson 18.03.2012
+MIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 MIM:157140 MICROTUBULE-ASSOCIATED PROTEIN TAU MAPT HP:0000743 Frontal release signs PCS PCS 45% MIM:601104 probinson 18.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-609454.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-609454.tab 2012-03-18 15:37:51 UTC (rev 4200)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-609454.tab 2012-03-18 22:13:15 UTC (rev 4201)
@@ -1,29 +1,28 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0000006 IEA 17.02.2009
-MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0000605 IEA 17.02.2009
-MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0000613 IEA 17.02.2009
-MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0000622 IEA 17.02.2009
-MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0000651 IEA 17.02.2009
-MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0000658 FMA:54437 HP:0002186 IEA 17.02.2009
-MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0000737 IEA 17.02.2009
-MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0000741 IEA 17.02.2009
-MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0000743 IEA 17.02.2009
-MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0000747 IEA 17.02.2009
-MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0001260 IEA 17.02.2009
-MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0001300 IEA 17.02.2009
-MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0002015 GO:0043050 PATO:0001641 IEA 17.02.2009
-MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0002063 IEA 17.02.2009
-MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0002067 IEA 17.02.2009
-MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0002141 IEA 17.02.2009
-MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0002171 FMA:55675 PATO:0002002 FMA:54537 IEA 17.02.2009
-MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0002174 IEA 17.02.2009
-MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0002185 IEA 17.02.2009
-MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0002304 IEA 17.02.2009
-MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0002400 ITM 17.02.2009
-MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0002439 IEA 17.02.2009
-MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0002481 IEA 17.02.2009
-MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0002527 IEA 17.02.2009
-MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0002528 FMA:62493 PATO:0000639 IEA 17.02.2009
-MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0002529 IEA 17.02.2009
-MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0002530 FMA:74547 HP:0001332 IEA 17.02.2009
-MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0002544 IEA 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
+MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0000605 Supranuclear gaze palsy IEA IEA 17.02.2009
+MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0000613 Photophobia IEA IEA 17.02.2009
+MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0000622 Blurred vision IEA IEA 17.02.2009
+MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0000651 Diplopia IEA IEA 17.02.2009
+MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0000658 Eyelid apraxia IEA IEA 17.02.2009
+MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0000737 Irritability IEA IEA 17.02.2009
+MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0000741 Apathy IEA IEA 17.02.2009
+MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0000743 Frontal release signs IEA IEA 17.02.2009
+MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0001260 Dysarthria IEA IEA 17.02.2009
+MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0001300 Parkinsonism IEA IEA 17.02.2009
+MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0002015 Dysphagia IEA IEA 17.02.2009
+MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0002063 Rigidity IEA IEA 17.02.2009
+MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0002067 Bradykinesia IEA IEA 17.02.2009
+MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0002141 Gait imbalance IEA IEA 17.02.2009
+MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0002171 Gliosis IEA IEA 17.02.2009
+MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0002174 Postural tremor IEA IEA 17.02.2009
+MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0002185 Neurofibrillary tangles IEA IEA 17.02.2009
+MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0002304 Akinesia IEA IEA 17.02.2009
+MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0002439 Frontolimbic dementia IEA IEA 17.02.2009
+MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0002527 Falls IEA IEA 17.02.2009
+MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0002528 Granulovacuolar degeneration IEA IEA 17.02.2009
+MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0002529 Neuronal loss in central nervous system IEA IEA 17.02.2009
+MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0002530 Axial dystonia IEA IEA 17.02.2009
+MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0002544 Retrocollis IEA IEA 17.02.2009
+MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0002354 Memory impairment PCS PCS MIM:609454 probinson 18.03.2012
+MIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2 HP:0002529 Neuronal loss in central nervous system PCS PCS MIM:609454 probinson 18.03.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-133750.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-133750.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-133750.tab 2012-03-18 22:13:15 UTC (rev 4201)
@@ -0,0 +1,7 @@
+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:133750 EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATION HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:133750 EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATION HP:0000252 Microcephaly IEA IEA 17.02.2009
+MIM:133750 EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATION IEA IEA 17.02.2009
+MIM:133750 EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATION HP:0004322 Short stature PCS PCS MIM:133750 probinson 18.03.2012
+MIM:133750 EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATION HP:0000953 Hyperpigmentation of the skin PCS PCS MIM:133750 probinson 18.03.2012
+MIM:133750 EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATION HP:0006889 Intellectual disability, borderline PCS PCS MIM:133750 probinson 18.03.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-145290.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-145290.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-145290.tab 2012-03-18 22:13:15 UTC (rev 4201)
@@ -0,0 +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:145290 HYPERREFLEXIA HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:145290 HYPERREFLEXIA HP:0000252 Microcephaly IEA IEA 17.02.2009
+MIM:145290 HYPERREFLEXIA HP:0001347 Hyperreflexia IEA IEA 17.02.2009
+MIM:145290 HYPERREFLEXIA HP:0008051 Abnormality of the retinal pigment epithelium PCS PCS MIM:145290 probinson 18.03.2012
+MIM:145290 HYPERREFLEXIA HP:0002325 Ankle or knee clonus PCS PCS MIM:145290 probinson 18.03.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-163950.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-163950.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-163950.tab 2012-03-18 22:13:15 UTC (rev 4201)
@@ -0,0 +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
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0000028 Cryptorchidism IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0000156 High-arched palate IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0000286 Epicanthus IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0000316 Hypertelorism IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0000368 Low-set, posteriorly rotated ears IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0000465 Webbed neck IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0000476 Cystic hygroma IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0000494 Downslanted palpebral fissures IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0000508 Ptosis IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0000545 Myopia IEA IEA 17.02.2009
+MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0000689 Dental malocclusion I...
[truncated message content] |
|
From: <pr...@us...> - 2012-03-25 16:52:19
|
Revision: 4206
http://obo.svn.sourceforge.net/obo/?rev=4206&view=rev
Author: probins
Date: 2012-03-25 16:52:12 +0000 (Sun, 25 Mar 2012)
Log Message:
-----------
New corrected annotation files
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/MIM-145680.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-176300.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-207800.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-207800.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-145680.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-145680.tab 2012-03-22 19:56:09 UTC (rev 4205)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-145680.tab 2012-03-25 16:52:12 UTC (rev 4206)
@@ -1,4 +1,3 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:145680 HYPERTHYROXINEMIA, FAMILIAL HP:0000006 IEA 17.02.2009
-MIM:145680 HYPERTHYROXINEMIA, FAMILIAL HP:0000818 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:145680 HYPERTHYROXINEMIA, FAMILIAL HP:0001939 GO:0008152 PATO:0000001 IEA PATO:0000460 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
+MIM:145680 DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA MIM:176300.0001 TTR.0001 HP:0008247 Euthyroid hyperthyroxinemia MIM:145680 probinson 25.03.2012
+MIM:145680 DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA MIM:176300.0001 TTR.0001 HP:0000006 Autosomal dominant inheritance MIM:145680 probinson 25.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-176300.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-176300.tab 2012-03-22 19:56:09 UTC (rev 4205)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-176300.tab 2012-03-25 16:52:12 UTC (rev 4206)
@@ -1,23 +1,22 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:176300 TRANSTHYRETIN HP:0000006 IEA 17.02.2009
-MIM:176300 TRANSTHYRETIN HP:0000100 IEA 17.02.2009
-MIM:176300 TRANSTHYRETIN HP:0000478 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:176300 TRANSTHYRETIN HP:0000966 IEA 17.02.2009
-MIM:176300 TRANSTHYRETIN HP:0000979 IEA 17.02.2009
-MIM:176300 TRANSTHYRETIN HP:0001278 IEA 17.02.2009
-MIM:176300 TRANSTHYRETIN HP:0001635 GO:0060047 PATO:0001641 IEA 17.02.2009
-MIM:176300 TRANSTHYRETIN HP:0001638 IEA 17.02.2009
-MIM:176300 TRANSTHYRETIN HP:0001668 IEA 17.02.2009
-MIM:176300 TRANSTHYRETIN HP:0001681 ITM 17.02.2009
-MIM:176300 TRANSTHYRETIN HP:0001917 IEA 17.02.2009
-MIM:176300 TRANSTHYRETIN HP:0002014 FMA:64183 PATO:0001548 ITM 17.02.2009
-MIM:176300 TRANSTHYRETIN HP:0002019 GO:0030421 PATO:0000381 IEA 17.02.2009
-MIM:176300 TRANSTHYRETIN HP:0002039 ITM 17.02.2009
-MIM:176300 TRANSTHYRETIN HP:0003216 IEA 17.02.2009
-MIM:176300 TRANSTHYRETIN HP:0003407 ITM 17.02.2009
-MIM:176300 TRANSTHYRETIN HP:0003584 ITM 17.02.2009
-MIM:176300 TRANSTHYRETIN HP:0005293 IEA 17.02.2009
-MIM:176300 TRANSTHYRETIN HP:0006683 IEA 17.02.2009
-MIM:176300 TRANSTHYRETIN HP:0006865 IEA 17.02.2009
-MIM:176300 TRANSTHYRETIN HP:0007310 IEA 17.02.2009
-MIM:176300 TRANSTHYRETIN HP:0008247 IEA 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
+MIM:176300 TRANSTHYRETIN HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:176300 TRANSTHYRETIN HP:0000100 Nephrotic syndrome IEA IEA 17.02.2009
+MIM:176300 TRANSTHYRETIN HP:0000478 Abnormality of the eye IEA IEA 17.02.2009
+MIM:176300 TRANSTHYRETIN HP:0000966 Hypohidrosis IEA IEA 17.02.2009
+MIM:176300 TRANSTHYRETIN HP:0000979 Purpura IEA IEA 17.02.2009
+MIM:176300 TRANSTHYRETIN HP:0001278 Orthostatic hypotension IEA IEA 17.02.2009
+MIM:176300 TRANSTHYRETIN HP:0001635 Congestive heart failure IEA IEA 17.02.2009
+MIM:176300 TRANSTHYRETIN HP:0001638 Cardiomyopathy IEA IEA 17.02.2009
+MIM:176300 TRANSTHYRETIN HP:0001668 Heart block IEA IEA 17.02.2009
+MIM:176300 TRANSTHYRETIN HP:0001681 Angina pectoris ITM ITM 17.02.2009
+MIM:176300 TRANSTHYRETIN HP:0001917 Renal amyloidosis IEA IEA 17.02.2009
+MIM:176300 TRANSTHYRETIN HP:0002014 Diarrhea ITM ITM 17.02.2009
+MIM:176300 TRANSTHYRETIN HP:0002019 Constipation IEA IEA 17.02.2009
+MIM:176300 TRANSTHYRETIN HP:0002039 Anorexia ITM ITM 17.02.2009
+MIM:176300 TRANSTHYRETIN HP:0003216 Generalized amyloid deposition IEA IEA 17.02.2009
+MIM:176300 TRANSTHYRETIN HP:0003584 Late onset ITM ITM 17.02.2009
+MIM:176300 TRANSTHYRETIN HP:0005293 Venous insufficiency IEA IEA 17.02.2009
+MIM:176300 TRANSTHYRETIN HP:0006683 Ventricular filling abnormal IEA IEA 17.02.2009
+MIM:176300 TRANSTHYRETIN HP:0006865 Sensorimotor polyneuropathy affecting arms more than legs IEA IEA 17.02.2009
+MIM:176300 TRANSTHYRETIN HP:0002459 Dysautonomia IEA IEA 17.02.2009
+MIM:176300 TRANSTHYRETIN HP:0008247 Euthyroid hyperthyroxinemia IEA IEA 17.02.2009
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-207800.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-207800.tab 2012-03-22 19:56:09 UTC (rev 4205)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-207800.tab 2012-03-25 16:52:12 UTC (rev 4206)
@@ -8,8 +8,6 @@
MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0008897 Postnatal growth retardation IEA IEA 17.02.2009
MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0001987 Hyperammonemia IEA IEA 17.02.2009
MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0002013 Vomiting IEA IEA 17.02.2009
-MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0002039 Anorexia IEA IEA 17.02.2009
MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0002478 Progressive spastic quadriplegia IEA IEA 17.02.2009
-MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0003131 Cystinuria ITM ITM 17.02.2009
-MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0003218 Oroticaciduria IEA IEA 17.02.2009
-MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0008339 Diaminoaciduria IEA IEA 17.02.2009
+MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0008339 Diaminoaciduria IEA IEA MIM:207800 probinson 25.03.2012
+MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0003218 Oroticaciduria PCS PCS MIM:207800 probinson 25.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-207800.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-207800.tab 2012-03-22 19:56:09 UTC (rev 4205)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-207800.tab 2012-03-25 16:52:12 UTC (rev 4206)
@@ -8,8 +8,6 @@
MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0008897 Postnatal growth retardation IEA IEA 17.02.2009
MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0001987 Hyperammonemia IEA IEA 17.02.2009
MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0002013 Vomiting IEA IEA 17.02.2009
-MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0002039 Anorexia IEA IEA 17.02.2009
MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0002478 Progressive spastic quadriplegia IEA IEA 17.02.2009
-MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0003131 Cystinuria ITM ITM 17.02.2009
-MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0003218 Oroticaciduria IEA IEA 17.02.2009
-MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0008339 Diaminoaciduria IEA IEA 17.02.2009
+MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0008339 Diaminoaciduria IEA IEA MIM:207800 probinson 25.03.2012
+MIM:207800 ARGININEMIA MIM:608313 ARGINASE, LIVER ARG1 HP:0003218 Oroticaciduria PCS PCS MIM:207800 probinson 25.03.2012
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <pr...@us...> - 2012-03-25 21:52:47
|
Revision: 4208
http://obo.svn.sourceforge.net/obo/?rev=4208&view=rev
Author: probins
Date: 2012-03-25 21:52:40 +0000 (Sun, 25 Mar 2012)
Log Message:
-----------
Added annotations
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/MIM-222700.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-222700.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-222700.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-222700.tab 2012-03-25 16:53:15 UTC (rev 4207)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-222700.tab 2012-03-25 21:52:40 UTC (rev 4208)
@@ -1,7 +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:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0000101 Chronic renal failure ITM ITM 17.02.2009
-MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0000725 Psychotic episodes ITM ITM 17.02.2009
MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0000939 Osteoporosis IEA IEA 17.02.2009
MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0000973 Cutis laxa IEA IEA 17.02.2009
MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0001252 Muscular hypotonia IEA IEA 17.02.2009
@@ -14,19 +13,19 @@
MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0001882 Leukopenia IEA IEA 17.02.2009
MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0001903 Anemia IEA IEA 17.02.2009
MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0001956 Truncal obesity ITM ITM 17.02.2009
-MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0001987 Hyperammonemia ITM ITM 17.02.2009
MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0002013 Vomiting IEA IEA 17.02.2009
MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0002014 Diarrhea IEA IEA 17.02.2009
MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0002018 Nausea IEA IEA 17.02.2009
MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0002093 Respiratory insufficiency IEA IEA 17.02.2009
-MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0002151 Increased serum lactate ITM ITM 17.02.2009
-MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0008070 Sparse hair PCS PCS MIM:222700 17.02.2009
+MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0004322 Short stature PCS PCS MIM:222700 17.02.2009
MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0002240 Hepatomegaly IEA IEA 17.02.2009
-MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0002213 Fine hair PCS PCS MIM:222470 17.02.2009
MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0002750 Delayed skeletal maturation IEA IEA 17.02.2009
MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0003202 Amyotrophy IEA IEA 17.02.2009
-MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0003218 Oroticaciduria ITM ITM 17.02.2009
MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0003281 Increased serum ferritin IEA IEA 17.02.2009
-MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0003593 Infantile onset PCS PCS MIM:222470 17.02.2009
MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0003774 End stage renal disease ITM ITM 17.02.2009
MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0008070 Sparse hair PCS PCS MIM:222470 01.03.2012
+MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0001987 Hyperammonemia PCS PCS MIM:222470 probinson 25.03.2012
+MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0002213 Fine hair PCS PCS MIM:222470 probinson 25.03.2012
+MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0003593 Infantile onset PCS PCS MIM:222470 probinson 25.03.2012
+MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0003218 Oroticaciduria PCS PCS MIM:222470 probinson 25.03.2012
+MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0000725 Psychotic episodes PCS PCS Rare MIM:222700 probinson 25.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-222700.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-222700.tab 2012-03-25 16:53:15 UTC (rev 4207)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-222700.tab 2012-03-25 21:52:40 UTC (rev 4208)
@@ -1,7 +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:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0000101 Chronic renal failure ITM ITM 17.02.2009
-MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0000725 Psychotic episodes ITM ITM 17.02.2009
MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0000939 Osteoporosis IEA IEA 17.02.2009
MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0000973 Cutis laxa IEA IEA 17.02.2009
MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0001252 Muscular hypotonia IEA IEA 17.02.2009
@@ -14,19 +13,19 @@
MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0001882 Leukopenia IEA IEA 17.02.2009
MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0001903 Anemia IEA IEA 17.02.2009
MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0001956 Truncal obesity ITM ITM 17.02.2009
-MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0001987 Hyperammonemia ITM ITM 17.02.2009
MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0002013 Vomiting IEA IEA 17.02.2009
MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0002014 Diarrhea IEA IEA 17.02.2009
MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0002018 Nausea IEA IEA 17.02.2009
MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0002093 Respiratory insufficiency IEA IEA 17.02.2009
-MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0002151 Increased serum lactate ITM ITM 17.02.2009
-MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0008070 Sparse hair PCS PCS MIM:222700 17.02.2009
+MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0004322 Short stature PCS PCS MIM:222700 17.02.2009
MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0002240 Hepatomegaly IEA IEA 17.02.2009
-MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0002213 Fine hair PCS PCS MIM:222470 17.02.2009
MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0002750 Delayed skeletal maturation IEA IEA 17.02.2009
MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0003202 Amyotrophy IEA IEA 17.02.2009
-MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0003218 Oroticaciduria ITM ITM 17.02.2009
MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0003281 Increased serum ferritin IEA IEA 17.02.2009
-MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0003593 Infantile onset PCS PCS MIM:222470 17.02.2009
MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0003774 End stage renal disease ITM ITM 17.02.2009
MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0008070 Sparse hair PCS PCS MIM:222470 01.03.2012
+MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0001987 Hyperammonemia PCS PCS MIM:222470 probinson 25.03.2012
+MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0002213 Fine hair PCS PCS MIM:222470 probinson 25.03.2012
+MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0003593 Infantile onset PCS PCS MIM:222470 probinson 25.03.2012
+MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0003218 Oroticaciduria PCS PCS MIM:222470 probinson 25.03.2012
+MIM:222700 LYSINURIC PROTEIN INTOLERANCE MIM:603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), SLC7A7 HP:0000725 Psychotic episodes PCS PCS Rare MIM:222700 probinson 25.03.2012
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
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From: <pr...@us...> - 2012-03-26 21:08:10
|
Revision: 4209
http://obo.svn.sourceforge.net/obo/?rev=4209&view=rev
Author: probins
Date: 2012-03-26 21:08:01 +0000 (Mon, 26 Mar 2012)
Log Message:
-----------
More corrected annotations
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/MIM-157900.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-215140.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-242670.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-247950.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-300048.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-300258.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-309580.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-215140.tab
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-157900.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-242670.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-247950.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-300048.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-300258.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-309580.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-157900.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-157900.tab 2012-03-25 21:52:40 UTC (rev 4208)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-157900.tab 2012-03-26 21:08:01 UTC (rev 4209)
@@ -1,55 +1,52 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:157900 MOEBIUS SYNDROME HP:0000006 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0000038 FMA:9707 PATO:0000587 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0000044 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0000156 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0000164 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0000193 FMA:55022 PATO:0000403 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0000210 FMA:54396 PATO:0000587 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0000286 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0000298 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0000316 FMA:54450 PATO:0000374 FMA:54449 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0000425 FMA:52745 PATO:0000407 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0000470 FMA:7155 PATO:0000574 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0000565 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0000568 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0000577 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0000598 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0001157 FMA:9666 PATO:0000140 IEA PATO:0000460 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0001159 FMA:85518 PATO:0000642 FMA:85518 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0001171 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0001188 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0001256 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0001260 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0001270 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0001288 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0001328 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0001390 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0001420 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0001491 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0001597 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0001608 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0001739 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0001762 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0001763 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0002015 GO:0043050 PATO:0001641 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0002075 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0002094 ITM 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0002312 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0002336 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0002365 FMA:79876 PATO:0000645 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0002370 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0002644 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0002880 ITM 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0003470 ITM 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0003815 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0004784 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0005334 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0005914 PATO:0000001 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0007306 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0008734 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0008872 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0008947 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0009803 FMA:23914 PATO:0000645 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0009816 FMA:24979 PATO:0000574 IEA 17.02.2009
-MIM:157900 MOEBIUS SYNDROME HP:0010563 IEA 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
+MIM:157900 MOEBIUS SYNDROME HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:157900 MOEBIUS SYNDROME HP:0000044 Hypogonadotrophic hypogonadism IEA IEA 17.02.2009
+MIM:157900 MOEBIUS SYNDROME HP:0000156 High-arched palate IEA IEA 17.02.2009
+MIM:157900 MOEBIUS SYNDROME HP:0000286 Epicanthus IEA IEA 17.02.2009
+MIM:157900 MOEBIUS SYNDROME HP:0000298 Mask-like facies IEA IEA 17.02.2009
+MIM:157900 MOEBIUS SYNDROME HP:0000425 Flattened nasal bridge IEA IEA 17.02.2009
+MIM:157900 MOEBIUS SYNDROME HP:0000470 Short neck IEA IEA 17.02.2009
+MIM:157900 MOEBIUS SYNDROME HP:0000565 Esotropia IEA IEA 17.02.2009
+MIM:157900 MOEBIUS SYNDROME HP:0000568 Microphthalmos IEA IEA 17.02.2009
+MIM:157900 MOEBIUS SYNDROME HP:0000577 Exotropia IEA IEA 17.02.2009
+MIM:157900 MOEBIUS SYNDROME HP:0000598 Abnormality of the ear IEA IEA 17.02.2009
+MIM:157900 MOEBIUS SYNDROME HP:0001159 Syndactyly IEA IEA 17.02.2009
+MIM:157900 MOEBIUS SYNDROME HP:0001171 Ectrodactyly (hands) IEA IEA 17.02.2009
+MIM:157900 MOEBIUS SYNDROME HP:0001188 Hand clenching IEA IEA 17.02.2009
+MIM:157900 MOEBIUS SYNDROME HP:0001256 Intellectual disability, mild IEA IEA 17.02.2009
+MIM:157900 MOEBIUS SYNDROME HP:0001260 Dysarthria IEA IEA 17.02.2009
+MIM:157900 MOEBIUS SYNDROME HP:0001270 Motor delay IEA IEA 17.02.2009
+MIM:157900 MOEBIUS SYNDROME HP:0001288 Gait disturbance IEA IEA 17.02.2009
+MIM:157900 MOEBIUS SYNDROME HP:0001420 Isolated cases IEA IEA 17.02.2009
+MIM:157900 MOEBIUS SYNDROME HP:0001491 Congenital fibrosis of extraocular muscles IEA IEA 17.02.2009
+MIM:157900 MOEBIUS SYNDROME HP:0001597 Abnormality of the nail IEA IEA 17.02.2009
+MIM:157900 MOEBIUS SYNDROME HP:0001608 Abnormality of the voice IEA IEA 17.02.2009
+MIM:157900 MOEBIUS SYNDROME HP:0001739 Abnormality of the nasopharynx IEA IEA 17.02.2009
+MIM:157900 MOEBIUS SYNDROME HP:0001762 Talipes equinovarus IEA IEA 17.02.2009
+MIM:157900 MOEBIUS SYNDROME HP:0001763 Pes planus IEA IEA 17.02.2009
+MIM:157900 MOEBIUS SYNDROME HP:0002015 Dysphagia IEA IEA 17.02.2009
+MIM:157900 MOEBIUS SYNDROME HP:0002075 Dysdiadochokinesis IEA IEA 17.02.2009
+MIM:157900 MOEBIUS SYNDROME HP:0002312 Clumsiness IEA IEA 17.02.2009
+MIM:157900 MOEBIUS SYNDROME HP:0002365 Hypoplasia of the brainstem IEA IEA 17.02.2009
+MIM:157900 MOEBIUS SYNDROME HP:0002370 Poor coordination IEA IEA 17.02.2009
+MIM:157900 MOEBIUS SYNDROME HP:0002644 Abnormality of the pelvis IEA IEA 17.02.2009
+MIM:157900 MOEBIUS SYNDROME HP:0002880 Respiratory difficulties ITM ITM 17.02.2009
+MIM:157900 MOEBIUS SYNDROME HP:0004784 Juvenile gastrointestinal polyposis IEA IEA 17.02.2009
+MIM:157900 MOEBIUS SYNDROME HP:0005914 Aplasia/Hypoplasia involving the metacarpal bones IEA IEA 17.02.2009
+MIM:157900 MOEBIUS SYNDROME HP:0008734 Decreased testicular size IEA IEA 17.02.2009
+MIM:157900 MOEBIUS SYNDROME HP:0008872 Feeding problems in infancy IEA IEA 17.02.2009
+MIM:157900 MOEBIUS SYNDROME HP:0008947 Infantile muscular hypotonia IEA IEA 17.02.2009
+MIM:157900 MOEBIUS SYNDROME HP:0009803 Hypoplastic/small phalanges of the hand IEA IEA 17.02.2009
+MIM:157900 MOEBIUS SYNDROME HP:0009816 Hypoplasia involving bones of the lower limbs IEA IEA 17.02.2009
+MIM:157900 MOEBIUS SYNDROME HP:0000054 Micropenis PCS PCS MIM:157900 probinson 26.03.2012
+MIM:157900 MOEBIUS SYNDROME HP:0000347 Micrognathia PCS PCS 64% MIM:157900 probinson 26.03.2012
+MIM:157900 MOEBIUS SYNDROME HP:0009466 Radial deviation of finger PCS PCS MIM:157900 probinson 26.03.2012
+MIM:157900 MOEBIUS SYNDROME HP:0002804 Arthrogryposis multiplex congenita PCS PCS 6% MIM:157900 probinson 26.03.2012
+MIM:157900 MOEBIUS SYNDROME HP:0001349 Facial diplegia PCS PCS MIM:157900 probinson 26.03.2012
+MIM:157900 MOEBIUS SYNDROME HP:0000932 Abnormality of the posterior cranial fossa PCS PCS MIM:157900 probinson 26.03.2012
+MIM:157900 MOEBIUS SYNDROME HP:0001188 Hand clenching PCS PCS MIM:157900 probinson 26.03.2012
+MIM:157900 MOEBIUS SYNDROME HP:0000316 Hypertelorism PCS PCS 25% MIM:157900 probinson 26.03.2012
+MIM:157900 MOEBIUS SYNDROME HP:0000164 Abnormality of the teeth PCS PCS 37% MIM:157900 probinson 26.03.2012
+MIM:157900 MOEBIUS SYNDROME HP:0000193 Bifid uvula PCS PCS 11% MIM:157900 probinson 26.03.2012
+MIM:157900 MOEBIUS SYNDROME HP:0005914 Aplasia/Hypoplasia involving the metacarpal bones IEA IEA 26.03.2012
+MIM:157900 MOEBIUS SYNDROME HP:0000750 Delayed speech and language development PCS PCS 55% MIM:157900 probinson 26.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-215140.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-215140.tab 2012-03-25 21:52:40 UTC (rev 4208)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-215140.tab 2012-03-26 21:08:01 UTC (rev 4209)
@@ -1,79 +1,78 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add'l Entity Name Mode of Inheritance ID Mode of Inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000007 Autosomal recessive inheritance PCS PMID:11113916; PMID:14684694
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000256 Macrocephaly FMA:46565 Skull PATO:0000586 increased size PCS 7/12 PMID:12210303; PMID:18382993
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000327 Maxillary hypoplasia FMA:9711 Maxilla PATO:0000645 hypoplastic PCS 3/12 PMID:3377005; PMID:8213919; PMID:12210303
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000774 Narrow chest FMA:9576 Thorax PATO:0000599 decreased width PCS 7/12 PMID:3377005; PMID:11180245; PMID:12210303; PMID:14684697; PMID:18382993
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001162 Postaxial polydactyly (hands) FMA:85518 Digit PATO:0000470 present in greater numbers in organism PCS 3/12 PMID:8213919; PMID:12618959; PMID:14684697
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0003107 Abnormality of cholesterol metabolism PCS 2/2 Elevated cholesta-8,14-dien-3-beta-ol (earlier pub was the first to note the elevated reading; these were the only 2 pubs to check). PMID:12618959; PMID:14684697
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0009106 Abnormal ossification involving the bones of the pelvis PCS 7/12 PMID:3377005; PMID:8213919; PMID:11180245; PMID:12210303; PMID:12618959; PMID:14684697
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002787 Tracheal calcifications FMA:7394 Trachea PATO:0001447 calcified PCS 3/12 PMID:3377005; PMID:8213919; PMID:12210303
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002983 Micromelia PCS 12/12 PMID:11113916; PMID:14684694
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0004331 Decreased skull ossification GO:0001503 ossification PATO:0002018 decreased magnitude PCS 5/12 PMID:3377005; PMID:8213919; PMID:11180245; PMID:12210303; PMID:14684697
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0004598 platyspondyly with multiple extra ossification centers PCS 8/12 PMID:14684694
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0004847 extramedullary erythropoiesis PCS 4/12 PMID:3377005; PMID:8213919; PMID:12210303
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001790 Nonimmune hydrops fetalis PCS 11/12 PMID:12210303; PMID:12618959; PMID:14684697; PMID:18382993
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0006619 Anterior rib punctate calcifications PCS 6/12 PMID:3377005; PMID:8213919; PMID:11180245; PMID:12210303; PMID:14684697; PMID:18382993
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0006637 Sternal punctate calcifications PCS 2/12 PMID:3377005; PMID:8213919
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0008754 Laryngeal calcifications FMA:55097 Larynx PATO:0001447 calcified PCS 3/12 PMID:3377005; PMID:12210303; PMID:14684697
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002202 Pleural effusion PCS 1/12 Others may have this as hydrops but this patient had only pleural effusion, so wasn't classified as hydrops. PMID:3377005
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0005855 Multiple prenatal fractures PCS 5/12 PMID:11113916; PMID:18382993
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000347 Mandibular hypoplasia FMA:52748 Mandible PATO:0000645 hypoplastic PCS 3/12 PMID:3377005; PMID:8213919; PMID:12210303
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001831 Brachydactyly (feet) PCS 2/12 PMID:3377005; PMID:11113916
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0003015 Metaphyseal flaring PCS 1/12 PMID:3377005
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0005908 Diaphyseal bowing of long bones PCS 2/12 Terms used were curved and angulated diaphyses PMID:12210303; PMID:12618959
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000476 Cystic hygroma of the neck PCS 2/12 PMID:8213919; PMID:12210303
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0008914 Dwarfism, short-limb, prenatal onset PCS 12/12 PMID:14684694; PMID:18382993
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001539 Omphalocele PCS 1/12 PMID:11113916
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002101 Abnormal lung lobation PCS 1/12 Term used was hypolobation of lung PMID:11113916
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000272 Malar hypoplasia PCS 5/12 PMID:3377005; PMID:8213919; PMID:11180245; PMID:12210303; PMID:14684697
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0005528 Bone marrow hypoplasia PCS 3/12 PMID:3377005; PMID:8213919; PMID:12210303
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001561 Polyhydramnios PCS 2/12 PMID:12210303; PMID:18382993
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0005716 Lethal skeletal dysplasia PCS 12/12 PMID:14684697
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0003811 Neonatal death PCS 12/12 PMID:14684697
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000890 Long clavicles PCS 3/12 PMID:3377005; PMID:8213919; PMID:12210303
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000878 11 pairs of ribs PCS 2/12 PMID:8213919; PMID:12210303
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002658 Stippled epiphyses PCS 4/12 PMID:3377005; PMID:8213919; PMID:12210303
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000209 Abnormality of the jaws PCS 1/12 Term used was avulsed jaw PMID:3377005
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000316 Hypertelorism PCS 2/12 PMID:14684697; PMID:18382993
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0003330 Abnormal bone laboratory examination PCS 10/10 Term is for abrupt cartilage-bone transition, tidemarks, cartilage column formation absent, physeal growth zone absent. The information wasn't available for the other two so they were excluded from the frequency. PMID:3377005; PMID:18382993
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001169 Broad hands PCS 2/12 PMID:3377005; PMID:11180245
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0009803 Hypoplastic/small phalanges of the hand PCS 6/12 PMID:3377005; PMID:8213919; PMID:11113916; PMID:11180245; PMID:12210303
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001569 Malposition of teeth PCS 1/12 Term used was ectopic teeth (larynx, trachea) PMID:3377005
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000782 Abnormality of the scapulae PCS 3/12 PMID:3377005; PMID:11180245; PMID:12618959
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000773 Short ribs PCS 7/12 PMID:3377005; PMID:8213919; PMID:11113916; PMID:11180245; PMID:12210303; PMID:12618959; PMID:14684697
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0006635 Anterior and posterior rib flaring PCS 1/12 PMID:3377005
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001552 Barrel-shaped chest PCS 3/12 PMID:8213919; PMID:11180245; PMID:12210303
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001640 Cardiomegaly PCS 1/12 PMID:11113916
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001433 Hepatosplenomegaly PCS 1/12 PMID:11113916
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002240 Hepatomegaly PCS 3/12 PMID:14684697; PMID:18382993
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002089 Pulmonary hypoplasia PCS 2/12 PMID:11113916; PMID:18382993
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002242 Abnormality of the intestines PCS 2/12 Actual term used was hyperechogenic bowel (two other echogenic terms in HPO but not this one). PMID:11113916; PMID:14684697
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000348 High forehead PCS 1/12 PMID:14684697
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000425 Flattened nasal bridge PCS 2/12 PMID:14684697; PMID:18382993
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0006580 Mild portal fibrosis PCS 1/12 PMID:14684697
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000369 Low-set ears PCS 1/12 PMID:18382993
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001830 Postaxial polydactyly (feet) PCS 1/12 PMID:18382993
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000315 Abnormality of the orbital region PCS 4/12 Term used was highly-arched orbit; distinct from prominent supraorbital ridge PMID:3377005; PMID:8213919; PMID:11180245; PMID:12210303
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0008479 Hypoplastic vertebral bodies PCS 1/12 PMID:3377005
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0004510 Islets of Langerhans hyperplasia PCS 1/12 PMID:3377005
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001802 Absent toenails PCS 1/12 PMID:11113916
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001804 Hypoplastic fingernails PCS 1/12 PMID:11113916
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0008417 Vertebral hypoplasia PCS 3/12 Term used was poor pedicular and laminar development. PMID:3377005; PMID:8213919; PMID:12210303
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0006559 Liver calcifications PCS 1/12 PMID:18382993
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001367 Abnormality of the joints PCS 1/12 Defective or absent joint formation PMID:12618959
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0009487 Ulnar deviation of the hand PCS 1/12 PMID:12210303
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001852 Gap between first and second toes PCS 1/12 PMID:11113916
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002566 Intestinal malrotation PCS 1/12 PMID:11113916
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0003440 Horizontal sacrum PCS 1/12 PMID:12210303
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0003021 Metaphyseal cupping PCS 1/12 PMID:12210303
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0008364 Abnormality of the calcaneus PCS 1/12 Term used was rudimentary calcaneous PMID:12210303
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000941 Short diaphyses PCS 2/12 PMID:8213919; PMID:12210303
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0005019 Diaphyseal thickening PCS 1/12 PMID:8213919
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000944 Abnormality of the metaphyses PCS 1/12 Short and thick metaphyses PMID:8213919
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0008370 Abnormal ossification involving bones of the feet PCS 3/12 PMID:3377005; PMID:8213919; PMID:12210303
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002694 Sclerotic skull base PCS 4/12 PMID:3377005; PMID:8213919; PMID:11180245; PMID:12210303
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0008516 Abnormality of the vertebral spinous processes PCS 2/12 Dense bones in spinous processes; couldn't find a specific sclerosis or osteosclerosis term. PMID:3377005; PMID:8213919
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0004599 Absent or minimally ossified vertebral bodies PCS 1/12 PMID:3377005
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0009107 Abnormal ossification involving the femoral head and neck PCS 2/12 PMID:3377005; PMID:18382993
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0008420 Vertebral calcifications PCS 1/12 This one didn't mention platyspondyly so I curated separately. Frequency 1/12 or 1/1? -> Sandra: 1/12 if calcifications of vertebrae only in this one patient (otherwise it would be x of 12) -> other pubs should have noted vertebral calcifications if they were present PMID:18382993
-MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA GREENBERG DYSPLASIA CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0010659 Patchy increased and decreased bone mineral density HPO:sdoelken 25.02.2010
+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:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000007 Autosomal recessive inheritance PCS PCS PMID:11113916; PMID:14684694
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000256 Macrocephaly PCS PCS PMID:12210303; PMID:18382993
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000327 Hypoplasia of the maxilla PCS PCS PMID:3377005; PMID:8213919; PMID:12210303
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000774 Narrow chest PCS PCS PMID:3377005; PMID:11180245; PMID:12210303; PMID:14684697; PMID:18382993
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001162 Postaxial polydactyly (hands) PCS PCS PMID:8213919; PMID:12618959; PMID:14684697
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0003107 Abnormality of cholesterol metabolism PCS PCS Elevated cholesta-8,14-dien-3-beta-ol (earlier pub was the first to note the elevated reading; these were the only 2 pubs to check). PMID:12618959; PMID:14684697
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0009106 Abnormal ossification involving the bones of the pelvis PCS PCS PMID:3377005; PMID:8213919; PMID:11180245; PMID:12210303; PMID:12618959; PMID:14684697
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002787 Tracheal calcifications PCS PCS PMID:3377005; PMID:8213919; PMID:12210303
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002983 Micromelia PCS PCS PMID:11113916; PMID:14684694
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0004331 Decreased skull ossification PCS PCS PMID:3377005; PMID:8213919; PMID:11180245; PMID:12210303; PMID:14684697
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0004598 platyspondyly with multiple extra ossification centers PCS PCS PMID:14684694
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0004847 extramedullary erythropoiesis PCS PCS PMID:3377005; PMID:8213919; PMID:12210303
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001790 Nonimmune hydrops fetalis PCS PCS PMID:12210303; PMID:12618959; PMID:14684697; PMID:18382993
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0006619 Anterior rib punctate calcifications PCS PCS PMID:3377005; PMID:8213919; PMID:11180245; PMID:12210303; PMID:14684697; PMID:18382993
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0006637 Sternal punctate calcifications PCS PCS PMID:3377005; PMID:8213919
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0008754 Laryngeal calcifications PCS PCS PMID:3377005; PMID:12210303; PMID:14684697
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002202 Pleural effusion PCS PCS Others may have this as hydrops but this patient had only pleural effusion, so wasn't classified as hydrops. PMID:3377005
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0005855 Multiple prenatal fractures PCS PCS PMID:11113916; PMID:18382993
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000347 Micrognathia PCS PCS PMID:3377005; PMID:8213919; PMID:12210303
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001831 Brachydactyly of the foot PCS PCS PMID:3377005; PMID:11113916
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0003015 Flared metaphyses PCS PCS PMID:3377005
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0005908 Diaphyseal bowing of long bones PCS PCS Terms used were curved and angulated diaphyses PMID:12210303; PMID:12618959
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000476 Cystic hygroma PCS PCS PMID:8213919; PMID:12210303
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0008914 Dwarfism, short-limb, prenatal onset PCS PCS PMID:14684694; PMID:18382993
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001539 Omphalocele PCS PCS PMID:11113916
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002101 Abnormal lung lobation PCS PCS Term used was hypolobation of lung PMID:11113916
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000272 Malar hypoplasia PCS PCS PMID:3377005; PMID:8213919; PMID:11180245; PMID:12210303; PMID:14684697
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0005528 Bone marrow hypoplasia PCS PCS PMID:3377005; PMID:8213919; PMID:12210303
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001561 Polyhydramnios PCS PCS PMID:12210303; PMID:18382993
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0005716 Lethal skeletal dysplasia PCS PCS PMID:14684697
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0003811 Neonatal death PCS PCS PMID:14684697
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000890 Long clavicles PCS PCS PMID:3377005; PMID:8213919; PMID:12210303
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000878 11 pairs of ribs PCS PCS PMID:8213919; PMID:12210303
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002658 Stippled epiphyses PCS PCS PMID:3377005; PMID:8213919; PMID:12210303
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000209 Abnormality of the jaws PCS PCS Term used was avulsed jaw PMID:3377005
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000316 Hypertelorism PCS PCS PMID:14684697; PMID:18382993
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0003330 Abnormal bone laboratory examination PCS PCS Term is for abrupt cartilage-bone transition, tidemarks, cartilage column formation absent, physeal growth zone absent. The information wasn't available for the other two so they were excluded from the frequency. PMID:3377005; PMID:18382993
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001169 Broad palm PCS PCS PMID:3377005; PMID:11180245
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0009803 Hypoplastic/small phalanges of the hand PCS PCS PMID:3377005; PMID:8213919; PMID:11113916; PMID:11180245; PMID:12210303
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001569 Malposition of teeth PCS PCS Term used was ectopic teeth (larynx, trachea) PMID:3377005
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000782 Abnormality of the scapulae PCS PCS PMID:3377005; PMID:11180245; PMID:12618959
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000773 Short ribs PCS PCS PMID:3377005; PMID:8213919; PMID:11113916; PMID:11180245; PMID:12210303; PMID:12618959; PMID:14684697
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0006635 Anterior and posterior rib flaring PCS PCS PMID:3377005
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001552 Barrel-shaped chest PCS PCS PMID:8213919; PMID:11180245; PMID:12210303
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001640 Cardiomegaly PCS PCS PMID:11113916
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001433 Hepatosplenomegaly PCS PCS PMID:11113916
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002240 Hepatomegaly PCS PCS PMID:14684697; PMID:18382993
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002089 Pulmonary hypoplasia PCS PCS PMID:11113916; PMID:18382993
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002242 Abnormality of the intestine PCS PCS Actual term used was hyperechogenic bowel (two other echogenic terms in HPO but not this one). PMID:11113916; PMID:14684697
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000348 High forehead PCS PCS PMID:14684697
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000425 Flattened nasal bridge PCS PCS PMID:14684697; PMID:18382993
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000369 Low-set ears PCS PCS PMID:18382993
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001830 Postaxial polydactyly of foot PCS PCS PMID:18382993
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000315 Abnormality of the orbital region PCS PCS Term used was highly-arched orbit; distinct from prominent supraorbital ridge PMID:3377005; PMID:8213919; PMID:11180245; PMID:12210303
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0008479 Hypoplastic vertebral bodies PCS PCS PMID:3377005
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0004510 Islets of Langerhans hyperplasia PCS PCS PMID:3377005
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001802 Absent toenails PCS PCS PMID:11113916
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001804 Hypoplastic fingernail PCS PCS PMID:11113916
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0008417 Vertebral hypoplasia PCS PCS Term used was poor pedicular and laminar development. PMID:3377005; PMID:8213919; PMID:12210303
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0006559 Hepatic calcification PCS PCS PMID:18382993
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001367 Abnormality of the joints PCS PCS Defective or absent joint formation PMID:12618959
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0009487 Ulnar deviation of the hand PCS PCS PMID:12210303
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001852 Sandal gap PCS PCS PMID:11113916
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002566 Intestinal malrotation PCS PCS PMID:11113916
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0003440 Horizontal sacrum PCS PCS PMID:12210303
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0003021 Metaphyseal cupping PCS PCS PMID:12210303
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0008364 Abnormality of the calcaneus PCS PCS Term used was rudimentary calcaneous PMID:12210303
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000941 Short diaphyses PCS PCS PMID:8213919; PMID:12210303
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0005019 Diaphyseal thickening PCS PCS PMID:8213919
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000944 Abnormality of the metaphyses PCS PCS Short and thick metaphyses PMID:8213919
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0008370 Abnormal ossification involving bones of the feet PCS PCS PMID:3377005; PMID:8213919; PMID:12210303
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002694 Sclerosis of skull base PCS PCS PMID:3377005; PMID:8213919; PMID:11180245; PMID:12210303
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0008516 Abnormality of the vertebral spinous processes PCS PCS Dense bones in spinous processes; couldn't find a specific sclerosis or osteosclerosis term. PMID:3377005; PMID:8213919
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0004599 Absent or minimally ossified vertebral bodies PCS PCS PMID:3377005
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0009107 Abnormal ossification involving the femoral head and neck PCS PCS PMID:3377005; PMID:18382993
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0008420 Punctate vertebral calcifications PCS PCS This one didn't mention platyspondyly so I curated separately. Frequency 1/12 or 1/1? -> Sandra: 1/12 if calcifications of vertebrae only in this one patient (otherwise it would be x of 12) -> other pubs should have noted vertebral calcifications if they were present PMID:18382993
+MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0010659 Patchy increased and decreased bone mineral density HPO:sdoelken 25.02.2010
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-242670.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-242670.tab 2012-03-25 21:52:40 UTC (rev 4208)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-242670.tab 2012-03-26 21:08:01 UTC (rev 4209)
@@ -1,9 +1,6 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:242670 IMMOTILE CILIA SYNDROME DUE TO DEFECTIVE RADIAL SPOKES HP:0000007 IEA 17.02.2009
-MIM:242670 IMMOTILE CILIA SYNDROME DUE TO DEFECTIVE RADIAL SPOKES HP:0000119 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:242670 IMMOTILE CILIA SYNDROME DUE TO DEFECTIVE RADIAL SPOKES HP:0000246 GO:0006954 PATO:0002017 IEA 17.02.2009
-MIM:242670 IMMOTILE CILIA SYNDROME DUE TO DEFECTIVE RADIAL SPOKES HP:0000462 IEA 17.02.2009
-MIM:242670 IMMOTILE CILIA SYNDROME DUE TO DEFECTIVE RADIAL SPOKES HP:0001939 GO:0008152 PATO:0000001 IEA PATO:0000460 17.02.2009
-MIM:242670 IMMOTILE CILIA SYNDROME DUE TO DEFECTIVE RADIAL SPOKES HP:0002086 IEA 17.02.2009
-MIM:242670 IMMOTILE CILIA SYNDROME DUE TO DEFECTIVE RADIAL SPOKES HP:0002257 IEA 17.02.2009
-MIM:242670 IMMOTILE CILIA SYNDROME DUE TO DEFECTIVE RADIAL SPOKES HP:0004786 IEA 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
+MIM:242670 CILIARY DYSKINESIA WITH DEFECTIVE RADIAL SPOKES HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
+MIM:242670 CILIARY DYSKINESIA WITH DEFECTIVE RADIAL SPOKES HP:0000246 Sinusitis IEA IEA 17.02.2009
+MIM:242670 CILIARY DYSKINESIA WITH DEFECTIVE RADIAL SPOKES HP:0000462 Nasal polyps IEA IEA 17.02.2009
+MIM:242670 CILIARY DYSKINESIA WITH DEFECTIVE RADIAL SPOKES HP:0002257 Chronic rhinitis PCS PCS MIM:242670 probinson 26.03.2012
+MIM:242670 CILIARY DYSKINESIA WITH DEFECTIVE RADIAL SPOKES HP:0002795 Functional respiratory abnormality PCS PCS MIM:242670 probinson 26.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-247950.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-247950.tab 2012-03-25 21:52:40 UTC (rev 4208)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-247950.tab 2012-03-26 21:08:01 UTC (rev 4209)
@@ -1,7 +1,6 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity I...
[truncated message content] |
|
From: <pr...@us...> - 2012-03-30 05:47:33
|
Revision: 4212
http://obo.svn.sourceforge.net/obo/?rev=4212&view=rev
Author: probins
Date: 2012-03-30 05:47:25 +0000 (Fri, 30 Mar 2012)
Log Message:
-----------
New corrections to annotation files
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/MIM-153650.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-304700.tab
phenotype-commons/annotations/OMIM/by-disease/MIM-600965.tab
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-153650.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-304700.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-600965.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-153650.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-153650.tab 2012-03-29 21:32:51 UTC (rev 4211)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-153650.tab 2012-03-30 05:47:25 UTC (rev 4212)
@@ -1,16 +1,14 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:153650 EPSTEIN SYNDROME MIM:160775 MYH9 HP:0000006 IEA 17.02.2009
-MIM:153650 EPSTEIN SYNDROME MIM:160775 MYH9 HP:0000093 FMA:12274 PATO:0002002 CHEBI:16541 IEA 17.02.2009
-MIM:153650 EPSTEIN SYNDROME MIM:160775 MYH9 HP:0000123 IEA 17.02.2009
-MIM:153650 EPSTEIN SYNDROME MIM:160775 MYH9 HP:0000404 GO:0007605 PATO:0000462 ITM 17.02.2009
-MIM:153650 EPSTEIN SYNDROME MIM:160775 MYH9 HP:0000421 ITM 17.02.2009
-MIM:153650 EPSTEIN SYNDROME MIM:160775 MYH9 HP:0000518 IEA 17.02.2009
-MIM:153650 EPSTEIN SYNDROME MIM:160775 MYH9 HP:0000822 ITM 17.02.2009
-MIM:153650 EPSTEIN SYNDROME MIM:160775 MYH9 HP:0001902 FMA:62851 PATO:0001940 IEA 17.02.2009
-MIM:153650 EPSTEIN SYNDROME MIM:160775 MYH9 HP:0002239 FMA:7152 PATO:0001561 MPATH:119 ITM 17.02.2009
-MIM:153650 EPSTEIN SYNDROME MIM:160775 MYH9 HP:0002907 IEA 17.02.2009
-MIM:153650 EPSTEIN SYNDROME MIM:160775 MYH9 HP:0003774 IEA 17.02.2009
-MIM:153650 EPSTEIN SYNDROME MIM:160775 MYH9 HP:0004838 IEA 17.02.2009
-MIM:153650 EPSTEIN SYNDROME MIM:160775 MYH9 HP:0008513 ITM 17.02.2009
-MIM:153650 EPSTEIN SYNDROME MIM:160775 MYH9 HP:0008530 ITM 17.02.2009
-MIM:153650 EPSTEIN SYNDROME MIM:160775 MYH9 HP:0008579 IEA 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
+MIM:153650 EPSTEIN SYNDROME MIM:160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE MYH9 HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:153650 EPSTEIN SYNDROME MIM:160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE MYH9 HP:0000093 Proteinuria IEA IEA 17.02.2009
+MIM:153650 EPSTEIN SYNDROME MIM:160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE MYH9 HP:0000123 Nephritis IEA IEA 17.02.2009
+MIM:153650 EPSTEIN SYNDROME MIM:160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE MYH9 HP:0000518 Cataract IEA IEA 17.02.2009
+MIM:153650 EPSTEIN SYNDROME MIM:160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE MYH9 HP:0001902 Giant platelets IEA IEA 17.02.2009
+MIM:153650 EPSTEIN SYNDROME MIM:160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE MYH9 HP:0002907 Microhematuria IEA IEA 17.02.2009
+MIM:153650 EPSTEIN SYNDROME MIM:160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE MYH9 HP:0003774 End stage renal disease IEA IEA 17.02.2009
+MIM:153650 EPSTEIN SYNDROME MIM:160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE MYH9 HP:0004838 severe thrombocytopenia IEA IEA 17.02.2009
+MIM:153650 EPSTEIN SYNDROME MIM:160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE MYH9 HP:0008530 Bilateral sensorineural deafness PCS PCS 100% MIM:153650 probinson 30.03.2012
+MIM:153650 EPSTEIN SYNDROME MIM:160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE MYH9 HP:0001757 High-tone sensorineural deafness PCS PCS 100% MIM:153650 probinson 30.03.2012
+MIM:153650 EPSTEIN SYNDROME MIM:160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE MYH9 HP:0002239 Gastrointestinal hemorrhage PCS PCS MIM:153650 probinson 30.03.2012
+MIM:153650 EPSTEIN SYNDROME MIM:160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE MYH9 HP:0000822 Hypertension PCS PCS MIM:153650 probinson 30.03.2012
+MIM:153650 EPSTEIN SYNDROME MIM:160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE MYH9 HP:0000421 Epistaxis PCS PCS MIM:153650 probinson 30.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-304700.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-304700.tab 2012-03-29 21:32:51 UTC (rev 4211)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-304700.tab 2012-03-30 05:47:25 UTC (rev 4212)
@@ -1,20 +1,22 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TIMM8A HP:0000505 GO:0007601 PATO:0000762 IEA 17.02.2009
-MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TIMM8A HP:0000512 IEA 17.02.2009
-MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TIMM8A HP:0000545 IEA 17.02.2009
-MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TIMM8A HP:0000595 IEA 17.02.2009
-MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TIMM8A HP:0000613 IEA 17.02.2009
-MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TIMM8A HP:0000708 IEA 17.02.2009
-MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TIMM8A HP:0001133 IEA 17.02.2009
-MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TIMM8A HP:0001257 IEA 17.02.2009
-MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TIMM8A HP:0001260 IEA 17.02.2009
-MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TIMM8A HP:0001268 IEA 17.02.2009
-MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TIMM8A HP:0001332 FMA:30316 PATO:0001814 IEA 17.02.2009
-MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TIMM8A HP:0001337 IEA 17.02.2009
-MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TIMM8A HP:0001347 IEA 17.02.2009
-MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TIMM8A HP:0001419 IEA 17.02.2009
-MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TIMM8A HP:0002015 GO:0043050 PATO:0001641 IEA 17.02.2009
-MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TIMM8A HP:0002533 IEA 17.02.2009
-MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TIMM8A HP:0002662 FMA:5018 PATO:0001444 IEA 17.02.2009
-MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TIMM8A HP:0003578 IEA 17.02.2009
-MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TIMM8A HP:0008596 IEA 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
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0000505 Impaired vision IEA IEA 17.02.2009
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0000512 Abnormal electroretinogram IEA IEA 17.02.2009
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0000545 Myopia IEA IEA 17.02.2009
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0000613 Photophobia IEA IEA 17.02.2009
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0000708 Behavioural/Psychiatric Abnormality IEA IEA 17.02.2009
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0001257 Spasticity IEA IEA 17.02.2009
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0001260 Dysarthria IEA IEA 17.02.2009
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0001268 Mental deterioration IEA IEA 17.02.2009
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0001332 Dystonia IEA IEA 17.02.2009
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0001337 Tremor IEA IEA 17.02.2009
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0001347 Hyperreflexia IEA IEA 17.02.2009
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0001419 X-linked recessive inheritance IEA IEA 17.02.2009
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0002015 Dysphagia IEA IEA 17.02.2009
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0002533 Abnormal posturing IEA IEA 17.02.2009
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0002659 Increased susceptibility to fractures IEA IEA 17.02.2009
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0008596 Progressive postlingual sensorineural IEA IEA 17.02.2009
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0011463 Childhood onset PCS PCS MIM:304700 probinson 30.03.2012
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0008596 Progressive postlingual sensorineural IEA IEA 30.03.2012
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0008596 Progressive postlingual sensorineural PCS PCS MIM:304700 probinson 30.03.2012
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0000595 Cortical blindness PCS PCS MIM:304700 probinson 30.03.2012
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0000408 Progressive sensorineural hearing impairment PCS PCS MIM:304700 probinson 30.03.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/MIM-600965.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/MIM-600965.tab 2012-03-29 21:32:51 UTC (rev 4211)
+++ phenotype-commons/annotations/OMIM/by-disease/MIM-600965.tab 2012-03-30 05:47:25 UTC (rev 4212)
@@ -1,6 +1,4 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add 'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
-MIM:600965 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 6 MIM:606201 WFS1 HP:0000006 IEA 17.02.2009
-MIM:600965 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 6 MIM:606201 WFS1 HP:0000404 GO:0007605 PATO:0000462 ITM 17.02.2009
-MIM:600965 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 6 MIM:606201 WFS1 HP:0008513 ITM 17.02.2009
-MIM:600965 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 6 MIM:606201 WFS1 HP:0008530 ITM 17.02.2009
-MIM:600965 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 6 MIM:606201 WFS1 HP:0008573 IEA 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
+MIM:600965 DEAFNESS, AUTOSOMAL DOMINANT 6 MIM:606201 WFS1 GENE WFS1 HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:600965 DEAFNESS, AUTOSOMAL DOMINANT 6 MIM:606201 WFS1 GENE WFS1 HP:0008573 Progressive, low-frequency sensorineural hearing loss PCS PCS MIM:600965 probinson 30.03.2012
+MIM:600965 DEAFNESS, AUTOSOMAL DOMINANT 6 MIM:606201 WFS1 GENE WFS1 HP:0000408 Progressive sensorineural hearing impairment PCS PCS MIM:600965 probinson 30.03.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-153650.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-153650.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-153650.tab 2012-03-30 05:47:25 UTC (rev 4212)
@@ -0,0 +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
+MIM:153650 EPSTEIN SYNDROME MIM:160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE MYH9 HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:153650 EPSTEIN SYNDROME MIM:160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE MYH9 HP:0000093 Proteinuria IEA IEA 17.02.2009
+MIM:153650 EPSTEIN SYNDROME MIM:160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE MYH9 HP:0000123 Nephritis IEA IEA 17.02.2009
+MIM:153650 EPSTEIN SYNDROME MIM:160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE MYH9 HP:0000518 Cataract IEA IEA 17.02.2009
+MIM:153650 EPSTEIN SYNDROME MIM:160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE MYH9 HP:0001902 Giant platelets IEA IEA 17.02.2009
+MIM:153650 EPSTEIN SYNDROME MIM:160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE MYH9 HP:0002907 Microhematuria IEA IEA 17.02.2009
+MIM:153650 EPSTEIN SYNDROME MIM:160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE MYH9 HP:0003774 End stage renal disease IEA IEA 17.02.2009
+MIM:153650 EPSTEIN SYNDROME MIM:160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE MYH9 HP:0004838 severe thrombocytopenia IEA IEA 17.02.2009
+MIM:153650 EPSTEIN SYNDROME MIM:160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE MYH9 HP:0008530 Bilateral sensorineural deafness PCS PCS 100% MIM:153650 probinson 30.03.2012
+MIM:153650 EPSTEIN SYNDROME MIM:160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE MYH9 HP:0001757 High-tone sensorineural deafness PCS PCS 100% MIM:153650 probinson 30.03.2012
+MIM:153650 EPSTEIN SYNDROME MIM:160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE MYH9 HP:0002239 Gastrointestinal hemorrhage PCS PCS MIM:153650 probinson 30.03.2012
+MIM:153650 EPSTEIN SYNDROME MIM:160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE MYH9 HP:0000822 Hypertension PCS PCS MIM:153650 probinson 30.03.2012
+MIM:153650 EPSTEIN SYNDROME MIM:160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE MYH9 HP:0000421 Epistaxis PCS PCS MIM:153650 probinson 30.03.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-304700.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-304700.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-304700.tab 2012-03-30 05:47:25 UTC (rev 4212)
@@ -0,0 +1,22 @@
+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:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0000505 Impaired vision IEA IEA 17.02.2009
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0000512 Abnormal electroretinogram IEA IEA 17.02.2009
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0000545 Myopia IEA IEA 17.02.2009
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0000613 Photophobia IEA IEA 17.02.2009
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0000708 Behavioural/Psychiatric Abnormality IEA IEA 17.02.2009
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0001257 Spasticity IEA IEA 17.02.2009
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0001260 Dysarthria IEA IEA 17.02.2009
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0001268 Mental deterioration IEA IEA 17.02.2009
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0001332 Dystonia IEA IEA 17.02.2009
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0001337 Tremor IEA IEA 17.02.2009
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0001347 Hyperreflexia IEA IEA 17.02.2009
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0001419 X-linked recessive inheritance IEA IEA 17.02.2009
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0002015 Dysphagia IEA IEA 17.02.2009
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0002533 Abnormal posturing IEA IEA 17.02.2009
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0002659 Increased susceptibility to fractures IEA IEA 17.02.2009
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0008596 Progressive postlingual sensorineural IEA IEA 17.02.2009
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0011463 Childhood onset PCS PCS MIM:304700 probinson 30.03.2012
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0008596 Progressive postlingual sensorineural IEA IEA 30.03.2012
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0008596 Progressive postlingual sensorineural PCS PCS MIM:304700 probinson 30.03.2012
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0000595 Cortical blindness PCS PCS MIM:304700 probinson 30.03.2012
+MIM:304700 MOHR-TRANEBJAERG SYNDROME MIM:300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, TIMM8A HP:0000408 Progressive sensorineural hearing impairment PCS PCS MIM:304700 probinson 30.03.2012
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-600965.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-600965.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-600965.tab 2012-03-30 05:47:25 UTC (rev 4212)
@@ -0,0 +1,4 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+MIM:600965 DEAFNESS, AUTOSOMAL DOMINANT 6 MIM:606201 WFS1 GENE WFS1 HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
+MIM:600965 DEAFNESS, AUTOSOMAL DOMINANT 6 MIM:606201 WFS1 GENE WFS1 HP:0008573 Progressive, low-frequency sensorineural hearing loss PCS PCS MIM:600965 probinson 30.03.2012
+MIM:600965 DEAFNESS, AUTOSOMAL DOMINANT 6 MIM:606201 WFS1 GENE WFS1 HP:0000408 Progressive sensorineural hearing impairment PCS PCS MIM:600965 probinson 30.03.2012
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