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[Obo-svn-commit] SF.net SVN: obo:[5167] phenotype-commons/annotations/OMIM/by-disease/misc/ jarFiles/generateAnnotationFile.jar

[<koe...@us...>]

Revision: 5167
          http://sourceforge.net/p/obo/svn/5167
Author:   koehlers
Date:     2014-06-20 11:23:06 +0000 (Fri, 20 Jun 2014)
Log Message:
-----------


Modified Paths:
--------------
    phenotype-commons/annotations/OMIM/by-disease/misc/jarFiles/generateAnnotationFile.jar

Modified: phenotype-commons/annotations/OMIM/by-disease/misc/jarFiles/generateAnnotationFile.jar
===================================================================
(Binary files differ)

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[Obo-svn-commit] SF.net SVN: obo:[5166] phenotype-commons/annotations/OMIM/by-disease/misc/ jarFiles/generateAnnotationFile.jar

[<koe...@us...>]

Revision: 5166
          http://sourceforge.net/p/obo/svn/5166
Author:   koehlers
Date:     2014-06-20 09:58:49 +0000 (Fri, 20 Jun 2014)
Log Message:
-----------


Modified Paths:
--------------
    phenotype-commons/annotations/OMIM/by-disease/misc/jarFiles/generateAnnotationFile.jar

Modified: phenotype-commons/annotations/OMIM/by-disease/misc/jarFiles/generateAnnotationFile.jar
===================================================================
(Binary files differ)

This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.

[Obo-svn-commit] SF.net SVN: obo:[5164] phenotype-commons/annotations/OMIM/by-disease/ annotated

[<pr...@us...>]

Revision: 5164
          http://sourceforge.net/p/obo/svn/5164
Author:   probins
Date:     2014-05-29 08:50:37 +0000 (Thu, 29 May 2014)
Log Message:
-----------
Correcting some pulmonary annotations

Modified Paths:
--------------
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-263000.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600561.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604801.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606071.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607569.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607598.tab

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-263000.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-263000.tab	2014-05-28 23:14:52 UTC (rev 5163)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-263000.tab	2014-05-29 08:50:37 UTC (rev 5164)
@@ -1,14 +1,14 @@
 Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created	
-OMIM:263000	INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL					HP:0000007	Autosomal recessive inheritance			IEA	IEA							OMIM:263000	HPO	17.02.2009	
-OMIM:263000	INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL					HP:0000961	Cyanosis			IEA	IEA							OMIM:263000	HPO	17.02.2009	
-OMIM:263000	INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL					HP:0001508	Failure to thrive			IEA	IEA							OMIM:263000	HPO:skoehler	18.06.2010	
-OMIM:263000	INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL					HP:0001648	Cor pulmonale			IEA	IEA							OMIM:263000	HPO:skoehler	18.06.2010	
-OMIM:263000	INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL					HP:0001939	Abnormality of metabolism/homeostasis			IEA	IEA							OMIM:263000	HPO	17.02.2009	
-OMIM:263000	INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL					HP:0002098	Respiratory distress			IEA	IEA							OMIM:263000	HPO:skoehler	18.06.2010	
-OMIM:263000	INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL					HP:0002788	Recurrent upper respiratory tract infections			IEA	IEA							OMIM:263000	HPO	17.02.2009	
-OMIM:263000	INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL					HP:0002789	Tachypnea			IEA	IEA							OMIM:263000	HPO	17.02.2009	
-OMIM:263000	INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL					HP:0004893	progressive respiratory failure			IEA	IEA							OMIM:263000	HPO	17.02.2009	
-OMIM:263000	INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL					HP:0005576	Tubulointerstitial fibrosis			IEA	IEA							OMIM:263000	HPO:skoehler	20.06.2010	
-OMIM:263000	INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL					HP:0005942	Desquamative interstitial pneumonitis			IEA	IEA							OMIM:263000	HPO	17.02.2009	
-OMIM:263000	INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL					HP:0006515	Interstitial pneumonitis			TAS	TAS							OMIM:263000	HPO:skoehler	17.02.2009	
-OMIM:263000	%263000 INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL; DIP;;PNEUMONITIS, DESQUAMATIVE INTERSTITIAL, FAMILIAL;;PNEUMONIA, DESQUAMATIVE INTERSTITIAL, FAMILIAL;;INTERSTITIAL LUNG DISEASE, DESQUAMATIVE;;ILD, DESQUAMATIVE					HP:0012735	Cough			IEA	IEA						OMIM-CS:RESPIRATORY > COUGH	OMIM:263000	HPO:skoehler	24.03.2014
+OMIM:263000	INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL					HP:0000007	Autosomal recessive inheritance			IEA	IEA							OMIM:263000	HPO	Feb 17, 2009	
+OMIM:263000	INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL					HP:0000961	Cyanosis			IEA	IEA							OMIM:263000	HPO	Feb 17, 2009	
+OMIM:263000	INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL					HP:0001508	Failure to thrive			IEA	IEA							OMIM:263000	HPO:skoehler	Jun 18, 2010	
+OMIM:263000	INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL					HP:0001648	Cor pulmonale			IEA	IEA							OMIM:263000	HPO:skoehler	Jun 18, 2010	
+OMIM:263000	INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL					HP:0001939	Abnormality of metabolism/homeostasis			IEA	IEA							OMIM:263000	HPO	Feb 17, 2009	
+OMIM:263000	INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL					HP:0002098	Respiratory distress			IEA	IEA							OMIM:263000	HPO:skoehler	Jun 18, 2010	
+OMIM:263000	INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL					HP:0002788	Recurrent upper respiratory tract infections			IEA	IEA							OMIM:263000	HPO	Feb 17, 2009	
+OMIM:263000	INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL					HP:0002789	Tachypnea			IEA	IEA							OMIM:263000	HPO	Feb 17, 2009	
+OMIM:263000	INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL					HP:0005576	Tubulointerstitial fibrosis			IEA	IEA							OMIM:263000	HPO:skoehler	Jun 20, 2010	
+OMIM:263000	INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL					HP:0005942	Desquamative interstitial pneumonitis			IEA	IEA							OMIM:263000	HPO	Feb 17, 2009	
+OMIM:263000	INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL					HP:0006515	Interstitial pneumonitis			TAS	TAS							OMIM:263000	HPO:skoehler	Feb 17, 2009	
+OMIM:263000	%263000 INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL; DIP;;PNEUMONITIS, DESQUAMATIVE INTERSTITIAL, FAMILIAL;;PNEUMONIA, DESQUAMATIVE INTERSTITIAL, FAMILIAL;;INTERSTITIAL LUNG DISEASE, DESQUAMATIVE;;ILD, DESQUAMATIVE					HP:0012735	Cough			TAS	TAS							OMIM:263000	HPO:skoehler	Mar 24, 2014	
+OMIM:263000	INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL					HP:0002878	Respiratory failure	HP:0003593	Infantile onset	TAS	TAS							OMIM:263000	HPO:probinson	May 29, 2014	

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600561.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600561.tab	2014-05-28 23:14:52 UTC (rev 5163)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600561.tab	2014-05-29 08:50:37 UTC (rev 5164)
@@ -1,22 +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	
-OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:600561	HPO	17.02.2009	
-OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0001269	Hemiparesis			IEA	IEA							OMIM:600561	HPO	17.02.2009	
-OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0001283	Bulbar palsy			IEA	IEA							OMIM:600561	HPO	17.02.2009	
-OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0001308	Tongue fasciculations			IEA	IEA							OMIM:600561	HPO	17.02.2009	
-OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0001348	Brisk reflexes			IEA	IEA							OMIM:600561	HPO	17.02.2009	
-OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0001388	Joint laxity			IEA	IEA							OMIM:600561	HPO:skoehler	20.06.2010	
-OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0011448	Ankle clonus			TAS	TAS							OMIM:600561	HPO:probinson	17.02.2009	
-OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0002273	Tetraparesis			IEA	IEA							OMIM:600561	HPO	17.02.2009	
-OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0002655	Spondyloepiphyseal dysplasia			TAS	TAS							OMIM:600561	HPO:probinson	17.02.2009	
-OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0002750	Delayed skeletal maturation			IEA	IEA							OMIM:600561	HPO	17.02.2009	
-OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0002938	Lumbar hyperlordosis			IEA	IEA							OMIM:600561	HPO	17.02.2009	
-OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0003090	Hypoplasia of the capital femoral epiphysis			IEA	IEA							OMIM:600561	HPO	17.02.2009	
-OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0003304	Spondylolysis			TAS	TAS							OMIM:600561	HPO:probinson	17.02.2009	
-OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0003414	Atlantoaxial dislocation			IEA	IEA							OMIM:600561	HPO	17.02.2009	
-OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0003690	Limb muscle weakness			IEA	IEA							OMIM:600561	HPO	17.02.2009	
-OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0004322	Short stature			IEA	IEA							OMIM:600561	HPO	17.02.2009	
-OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0004893	progressive respiratory failure			IEA	IEA							OMIM:600561	HPO	17.02.2009	
-OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0008489	Spondylolisthesis at L5-S1			IEA	IEA							OMIM:600561	HPO	17.02.2009	
-OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0009130	Hand muscle atrophy			IEA	IEA							OMIM:600561	HPO	17.02.2009	
-OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0005667	Os odontoideum			TAS	TAS							OMIM:600561	HPO:probinson	10.06.2012	
-OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0003467	Atlantoaxial instability			TAS	TAS							OMIM:600561	HPO:probinson	10.06.2012	
+OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:600561	HPO	Feb 17, 2009	
+OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0001269	Hemiparesis			IEA	IEA							OMIM:600561	HPO	Feb 17, 2009	
+OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0001283	Bulbar palsy			IEA	IEA							OMIM:600561	HPO	Feb 17, 2009	
+OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0001308	Tongue fasciculations			IEA	IEA							OMIM:600561	HPO	Feb 17, 2009	
+OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0001348	Brisk reflexes			IEA	IEA							OMIM:600561	HPO	Feb 17, 2009	
+OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0001388	Joint laxity			IEA	IEA							OMIM:600561	HPO:skoehler	Jun 20, 2010	
+OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0011448	Ankle clonus			TAS	TAS							OMIM:600561	HPO:probinson	Feb 17, 2009	
+OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0002273	Tetraparesis			IEA	IEA							OMIM:600561	HPO	Feb 17, 2009	
+OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0002655	Spondyloepiphyseal dysplasia			TAS	TAS							OMIM:600561	HPO:probinson	Feb 17, 2009	
+OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0002750	Delayed skeletal maturation			IEA	IEA							OMIM:600561	HPO	Feb 17, 2009	
+OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0002938	Lumbar hyperlordosis			IEA	IEA							OMIM:600561	HPO	Feb 17, 2009	
+OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0003090	Hypoplasia of the capital femoral epiphysis			IEA	IEA							OMIM:600561	HPO	Feb 17, 2009	
+OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0003304	Spondylolysis			TAS	TAS							OMIM:600561	HPO:probinson	Feb 17, 2009	
+OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0003414	Atlantoaxial dislocation			IEA	IEA							OMIM:600561	HPO	Feb 17, 2009	
+OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0003690	Limb muscle weakness			IEA	IEA							OMIM:600561	HPO	Feb 17, 2009	
+OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0004322	Short stature			IEA	IEA							OMIM:600561	HPO	Feb 17, 2009	
+OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0008489	Spondylolisthesis at L5-S1			IEA	IEA							OMIM:600561	HPO	Feb 17, 2009	
+OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0009130	Hand muscle atrophy			IEA	IEA							OMIM:600561	HPO	Feb 17, 2009	
+OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0005667	Os odontoideum			TAS	TAS							OMIM:600561	HPO:probinson	Jun 10, 2012	
+OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0003467	Atlantoaxial instability			TAS	TAS							OMIM:600561	HPO:probinson	Jun 10, 2012	
+OMIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY					HP:0002878	Respiratory failure			TAS	TAS						Resulting from atlantoaxial subluxation	OMIM:600561	HPO:probinson	May 29, 2014	

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604801.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604801.tab	2014-05-28 23:14:52 UTC (rev 5163)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604801.tab	2014-05-29 08:50:37 UTC (rev 5164)
@@ -1,16 +1,16 @@
 Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created	
-OMIM:604801	MUSCULAR DYSTROPHY, CONGENITAL, 1B					HP:0000007	Autosomal recessive inheritance			IEA	IEA							OMIM:604801	HPO	17.02.2009	
-OMIM:604801	MUSCULAR DYSTROPHY, CONGENITAL, 1B					HP:0000775	Abnormality of the diaphragm			IEA	IEA							OMIM:604801	HPO	17.02.2009	
-OMIM:604801	MUSCULAR DYSTROPHY, CONGENITAL, 1B					HP:0001270	Motor delay			IEA	IEA							OMIM:604801	HPO	17.02.2009	
-OMIM:604801	MUSCULAR DYSTROPHY, CONGENITAL, 1B					HP:0001290	Generalized hypotonia			IEA	IEA							OMIM:604801	HPO	17.02.2009	
-OMIM:604801	MUSCULAR DYSTROPHY, CONGENITAL, 1B					HP:0001771	Achilles tendon contracture			TAS	TAS							OMIM:604801	HPO	17.02.2009	
-OMIM:604801	MUSCULAR DYSTROPHY, CONGENITAL, 1B					HP:0002878	Early respiratory failure			IEA	IEA							OMIM:604801	HPO	17.02.2009	
-OMIM:604801	MUSCULAR DYSTROPHY, CONGENITAL, 1B					HP:0003236	Elevated serum creatine phosphokinase			IEA	IEA							OMIM:604801	HPO	17.02.2009	
-OMIM:604801	MUSCULAR DYSTROPHY, CONGENITAL, 1B					HP:0003306	Spinal rigidity			IEA	IEA							OMIM:604801	HPO	17.02.2009	
-OMIM:604801	MUSCULAR DYSTROPHY, CONGENITAL, 1B					HP:0003391	Gower sign			IEA	IEA							OMIM:604801	HPO	17.02.2009	
-OMIM:604801	MUSCULAR DYSTROPHY, CONGENITAL, 1B					HP:0003547	Shoulder girdle muscle weakness			IEA	IEA							OMIM:604801	HPO	17.02.2009	
-OMIM:604801	MUSCULAR DYSTROPHY, CONGENITAL, 1B					HP:0003720	Generalized muscle hypertrophy			IEA	IEA							OMIM:604801	HPO	17.02.2009	
-OMIM:604801	MUSCULAR DYSTROPHY, CONGENITAL, 1B					HP:0003741	Congenital muscular dystrophy			TAS	TAS							OMIM:604801	HPO:probinson	17.02.2009	
-OMIM:604801	MUSCULAR DYSTROPHY, CONGENITAL, 1B					HP:0010628	Facial palsy			IEA	IEA							OMIM:604801	HPO	17.02.2009	
-OMIM:604801	MUSCULAR DYSTROPHY, CONGENITAL, 1B					HP:0012037	Pectoralis amyotrophy			TAS	TAS							OMIM:604801	HPO:probinson	27.07.2012	
-OMIM:604801	MUSCULAR DYSTROPHY, CONGENITAL, 1B					HP:0012036	Sternocleidomastoid amyotrophy			TAS	TAS							OMIM:604801	HPO:probinson	27.07.2012	
+OMIM:604801	MUSCULAR DYSTROPHY, CONGENITAL, 1B					HP:0000007	Autosomal recessive inheritance			IEA	IEA							OMIM:604801	HPO	Feb 17, 2009	
+OMIM:604801	MUSCULAR DYSTROPHY, CONGENITAL, 1B					HP:0001270	Motor delay			IEA	IEA							OMIM:604801	HPO	Feb 17, 2009	
+OMIM:604801	MUSCULAR DYSTROPHY, CONGENITAL, 1B					HP:0001290	Generalized hypotonia			IEA	IEA							OMIM:604801	HPO	Feb 17, 2009	
+OMIM:604801	MUSCULAR DYSTROPHY, CONGENITAL, 1B					HP:0001771	Achilles tendon contracture			TAS	TAS							OMIM:604801	HPO	Feb 17, 2009	
+OMIM:604801	MUSCULAR DYSTROPHY, CONGENITAL, 1B					HP:0003236	Elevated serum creatine phosphokinase			IEA	IEA							OMIM:604801	HPO	Feb 17, 2009	
+OMIM:604801	MUSCULAR DYSTROPHY, CONGENITAL, 1B					HP:0003306	Spinal rigidity			IEA	IEA							OMIM:604801	HPO	Feb 17, 2009	
+OMIM:604801	MUSCULAR DYSTROPHY, CONGENITAL, 1B					HP:0003391	Gowers sign			IEA	IEA							OMIM:604801	HPO	Feb 17, 2009	
+OMIM:604801	MUSCULAR DYSTROPHY, CONGENITAL, 1B					HP:0003547	Shoulder girdle muscle weakness			IEA	IEA							OMIM:604801	HPO	Feb 17, 2009	
+OMIM:604801	MUSCULAR DYSTROPHY, CONGENITAL, 1B					HP:0003720	Generalized muscle hypertrophy			IEA	IEA							OMIM:604801	HPO	Feb 17, 2009	
+OMIM:604801	MUSCULAR DYSTROPHY, CONGENITAL, 1B					HP:0003741	Congenital muscular dystrophy			TAS	TAS							OMIM:604801	HPO:probinson	Feb 17, 2009	
+OMIM:604801	MUSCULAR DYSTROPHY, CONGENITAL, 1B					HP:0010628	Facial palsy			IEA	IEA							OMIM:604801	HPO	Feb 17, 2009	
+OMIM:604801	MUSCULAR DYSTROPHY, CONGENITAL, 1B					HP:0012037	Pectoralis amyotrophy			TAS	TAS							OMIM:604801	HPO:probinson	Jul 27, 2012	
+OMIM:604801	MUSCULAR DYSTROPHY, CONGENITAL, 1B					HP:0012036	Sternocleidomastoid amyotrophy			TAS	TAS							OMIM:604801	HPO:probinson	Jul 27, 2012	
+OMIM:604801	MUSCULAR DYSTROPHY, CONGENITAL, 1B					HP:0002878	Respiratory failure	HP:0011463	Childhood onset	PCS	PCS							pmid:10677302	HPO:probinson	May 29, 2014	
+OMIM:604801	MUSCULAR DYSTROPHY, CONGENITAL, 1B					HP:0009113	Diaphragmatic weakness	HP:0011463	Childhood onset	PCS	PCS							pmid:10677302	HPO:probinson	May 29, 2014	

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606071.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606071.tab	2014-05-28 23:14:52 UTC (rev 5163)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606071.tab	2014-05-29 08:50:37 UTC (rev 5164)
@@ -26,3 +26,5 @@
 OMIM:606071	#606071 HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC; HMSN2C;;HMSN IIC;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2C;CMT2C;;CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2C					HP:0000407	Sensorineural hearing impairment			IEA	IEA						OMIM-CS:HEAD AND NECK_EARS > HEARING LOSS, SENSORINEURAL	OMIM:606071	HPO:skoehler	Nov 21, 2012	
 OMIM:606071	HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC					HP:0011349	Abducens palsy			TAS	TAS							OMIM:606071	HPO:probinson	Mar 12, 2013	
 OMIM:606071	HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC					HP:0012246	Oculomotor nerve palsy			TAS	TAS							OMIM:606071	HPO:probinson	Apr 2, 2013	
+OMIM:606071	HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC					HP:0002878	Respiratory failure			TAS	TAS							OMIM:606071	HPO:probinson	May 29, 2014	
+OMIM:606071	HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC					HP:0009113	Diaphragmatic weakness			TAS	TAS							OMIM:606071	HPO:probinson	May 29, 2014	

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607569.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607569.tab	2014-05-28 23:14:52 UTC (rev 5163)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607569.tab	2014-05-29 08:50:37 UTC (rev 5164)
@@ -1,17 +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	
-OMIM:607569	MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:607569	HPO	17.02.2009	
-OMIM:607569	MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT					HP:0002792	Reduced vital capacity			IEA	IEA							OMIM:607569	HPO	17.02.2009	
-OMIM:607569	MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT					HP:0002877	Nocturnal hypoventilation			IEA	IEA							OMIM:607569	HPO	17.02.2009	
-OMIM:607569	MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT					HP:0002878	Early respiratory failure			IEA	IEA							OMIM:607569	HPO	17.02.2009	
-OMIM:607569	MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT					HP:0003236	Elevated serum creatine phosphokinase			TAS	TAS						Mild to moderate	OMIM:607569	HPO:probinson	17.02.2009	
-OMIM:607569	MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT					HP:0003377	Foot drop			TAS	TAS						Bilateral	OMIM:607569	HPO:probinson	17.02.2009	
-OMIM:607569	MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT					HP:0003458	EMG: myopathic abnormalities			IEA	IEA							OMIM:607569	HPO	17.02.2009	
-OMIM:607569	MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT					HP:0003547	Shoulder girdle muscle weakness			IEA	IEA							OMIM:607569	HPO	17.02.2009	
-OMIM:607569	MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT					HP:0003555	Muscle fiber splitting			IEA	IEA							OMIM:607569	HPO	17.02.2009	
-OMIM:607569	MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT					HP:0003676	Progressive disorder			IEA	IEA							OMIM:607569	HPO	17.02.2009	
-OMIM:607569	MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT					HP:0003722	Neck flexor weakness			IEA	IEA							OMIM:607569	HPO	17.02.2009	
-OMIM:607569	MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT					HP:0003731	Quadriceps muscle weakness			IEA	IEA							OMIM:607569	HPO	17.02.2009	
-OMIM:607569	MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT					HP:0003749	Pelvic girdle muscle weakness			IEA	IEA							OMIM:607569	HPO	17.02.2009	
-OMIM:607569	MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT					HP:0003805	Rimmed vacuoles			IEA	IEA							OMIM:607569	HPO	17.02.2009	
-OMIM:607569	MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT					HP:0003828	Variable expressivity			IEA	IEA							OMIM:607569	HPO	17.02.2009	
-OMIM:607569	MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT					HP:0003581	Adult onset			TAS	TAS						Mean age of onset 50 years	OMIM:607569	HPO:probinson	16.07.2012	
+OMIM:607569	MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:607569	HPO	Feb 17, 2009	
+OMIM:607569	MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT					HP:0002792	Reduced vital capacity			IEA	IEA							OMIM:607569	HPO	Feb 17, 2009	
+OMIM:607569	MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT					HP:0002877	Nocturnal hypoventilation			TAS	TAS	5/11						OMIM:607569	HPO:probinson	Feb 17, 2009	
+OMIM:607569	MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT					HP:0003236	Elevated serum creatine phosphokinase			TAS	TAS						Mild to moderate	OMIM:607569	HPO:probinson	Feb 17, 2009	
+OMIM:607569	MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT					HP:0003377	Foot drop			TAS	TAS						Bilateral	OMIM:607569	HPO:probinson	Feb 17, 2009	
+OMIM:607569	MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT					HP:0003458	EMG: myopathic abnormalities			IEA	IEA							OMIM:607569	HPO	Feb 17, 2009	
+OMIM:607569	MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT					HP:0003547	Shoulder girdle muscle weakness			IEA	IEA							OMIM:607569	HPO	Feb 17, 2009	
+OMIM:607569	MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT					HP:0003555	Muscle fiber splitting			IEA	IEA							OMIM:607569	HPO	Feb 17, 2009	
+OMIM:607569	MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT					HP:0003676	Progressive disorder			IEA	IEA							OMIM:607569	HPO	Feb 17, 2009	
+OMIM:607569	MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT					HP:0003722	Neck flexor weakness			IEA	IEA							OMIM:607569	HPO	Feb 17, 2009	
+OMIM:607569	MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT					HP:0003731	Quadriceps muscle weakness			IEA	IEA							OMIM:607569	HPO	Feb 17, 2009	
+OMIM:607569	MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT					HP:0003749	Pelvic girdle muscle weakness			IEA	IEA							OMIM:607569	HPO	Feb 17, 2009	
+OMIM:607569	MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT					HP:0003805	Rimmed vacuoles			IEA	IEA							OMIM:607569	HPO	Feb 17, 2009	
+OMIM:607569	MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT					HP:0003828	Variable expressivity			IEA	IEA							OMIM:607569	HPO	Feb 17, 2009	
+OMIM:607569	MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT					HP:0003581	Adult onset			TAS	TAS						Mean age of onset 50 years	OMIM:607569	HPO:probinson	Jul 16, 2012	
+OMIM:607569	MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT					HP:0002093	Respiratory insufficiency			TAS	TAS							OMIM:607569	HPO:probinson	May 29, 2014	

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607598.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607598.tab	2014-05-28 23:14:52 UTC (rev 5163)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607598.tab	2014-05-29 08:50:37 UTC (rev 5164)
@@ -8,8 +8,8 @@
 OMIM:607598	LETHAL CONGENITAL CONTRACTURE SYNDROME 2					HP:0002304	Akinesia			IEA	IEA							OMIM:607598	HPO	Feb 17, 2009	
 OMIM:607598	LETHAL CONGENITAL CONTRACTURE SYNDROME 2					HP:0002804	Arthrogryposis multiplex congenita			IEA	IEA							OMIM:607598	HPO	Feb 17, 2009	
 OMIM:607598	LETHAL CONGENITAL CONTRACTURE SYNDROME 2					HP:0003202	Amyotrophy			TAS	TAS							OMIM:607598	HPO	Feb 17, 2009	
-OMIM:607598	LETHAL CONGENITAL CONTRACTURE SYNDROME 2					HP:0004877	respiratory failure in infancy			IEA	IEA							OMIM:607598	HPO	Feb 17, 2009	
 OMIM:607598	LETHAL CONGENITAL CONTRACTURE SYNDROME 2					HP:0007964	Degenerative vitreoretinopathy			IEA	IEA							OMIM:607598	HPO	Feb 17, 2009	
 OMIM:607598	LETHAL CONGENITAL CONTRACTURE SYNDROME 2					HP:0011003	Severe Myopia			IEA	IEA							OMIM:607598	HPO	Feb 17, 2009	
 OMIM:607598	LETHAL CONGENITAL CONTRACTURE SYNDROME 2					HP:0001629	Ventricular septal defect			TAS	TAS	Occasional						OMIM:607598	HPO:probinson	Apr 25, 2012	
 OMIM:607598	LETHAL CONGENITAL CONTRACTURE SYNDROME 2					HP:0001644	Dilated cardiomyopathy			TAS	TAS	Occasional						OMIM:607598	HPO:probinson	Apr 25, 2012	
+OMIM:607598	LETHAL CONGENITAL CONTRACTURE SYNDROME 2					HP:0002878	Respiratory failure	HP:0003593	Infantile onset	TAS	TAS							OMIM:607598	HPO:probinson	May 29, 2014	

This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.

[Obo-svn-commit] SF.net SVN: obo:[5163] uberon/releases/2014-05-27/

[<cmu...@us...>]

Revision: 5163
          http://sourceforge.net/p/obo/svn/5163
Author:   cmungall
Date:     2014-05-28 23:14:52 +0000 (Wed, 28 May 2014)
Log Message:
-----------
new release

Added Paths:
-----------
    uberon/releases/2014-05-27/

This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.

[Obo-svn-commit] SF.net SVN: obo:[5160] phenotype-commons/annotations/OMIM/by-disease/ annotated

[<pr...@us...>]

Revision: 5160
          http://sourceforge.net/p/obo/svn/5160
Author:   probins
Date:     2014-05-24 15:48:46 +0000 (Sat, 24 May 2014)
Log Message:
-----------
Some corrected annotations

Modified Paths:
--------------
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-211900.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-229200.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-260565.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614170.tab

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-211900.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-211900.tab	2014-05-24 09:03:10 UTC (rev 5159)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-211900.tab	2014-05-24 15:48:46 UTC (rev 5160)
@@ -1,14 +1,15 @@
 Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created	
-OMIM:211900	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL					HP:0000007	Autosomal recessive inheritance			IEA	IEA							OMIM:211900	HPO	Feb 17, 2009	
-OMIM:211900	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL					HP:0000679	Taurodontia			IEA	IEA							OMIM:211900	HPO	Feb 17, 2009	
-OMIM:211900	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL					HP:0000951	Abnormality of the skin			IEA	IEA							OMIM:211900	HPO	Feb 17, 2009	
-OMIM:211900	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL					HP:0001102	Angioid streaks of the retina			IEA	IEA							OMIM:211900	HPO	Feb 17, 2009	
-OMIM:211900	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL					HP:0002905	Hyperphosphatemia			IEA	IEA							OMIM:211900	HPO	Feb 17, 2009	
-OMIM:211900	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL					HP:0003621	Juvenile onset			IEA	IEA							OMIM:211900	HPO	Feb 17, 2009	
-OMIM:211900	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL					HP:0003771	Pulp stones			IEA	IEA							OMIM:211900	HPO	Feb 17, 2009	
-OMIM:211900	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL					HP:0004934	Vascular calcification			IEA	IEA							OMIM:211900	HPO	Feb 17, 2009	
-OMIM:211900	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL					HP:0005571	Increased renal tubular phosphate reabsorption			IEA	IEA							OMIM:211900	HPO	Feb 17, 2009	
-OMIM:211900	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL					HP:0005572	Decreased renal tubular phosphate excretion			IEA	IEA							OMIM:211900	HPO	Feb 17, 2009	
-OMIM:211900	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL					HP:0006297	Hypoplasia of dental enamel			IEA	IEA							OMIM:211900	HPO	Feb 17, 2009	
-OMIM:211900	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL					HP:0007799	Conjunctival whitish salt-like deposits			IEA	IEA							OMIM:211900	HPO	Feb 17, 2009	
-OMIM:211900	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL					HP:0000121	Nephrocalcinosis			TAS	TAS							OMIM:211900	HPO	Nov 24, 2013	
+OMIM:211900	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL					HP:0000007	Autosomal recessive inheritance			TAS	TAS							OMIM:211900	HPO:probinson	Feb 17, 2009	
+OMIM:211900	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL					HP:0000679	Taurodontia			TAS	TAS							OMIM:211900	HPO:probinson	Feb 17, 2009	
+OMIM:211900	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL					HP:0000951	Abnormality of the skin			IEA	IEA							OMIM:211900	HPO:probinson	Feb 17, 2009	
+OMIM:211900	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL					HP:0001102	Angioid streaks of the retina			TAS	TAS							OMIM:211900	HPO:probinson	Feb 17, 2009	
+OMIM:211900	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL					HP:0002905	Hyperphosphatemia			TAS	TAS							OMIM:211900	HPO:probinson	Feb 17, 2009	
+OMIM:211900	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL					HP:0003621	Juvenile onset			IEA	IEA							OMIM:211900	HPO:probinson	Feb 17, 2009	
+OMIM:211900	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL					HP:0003771	Pulp stones			TAS	TAS							OMIM:211900	HPO:probinson	Feb 17, 2009	
+OMIM:211900	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL					HP:0004934	Vascular calcification			TAS	TAS							OMIM:211900	HPO:probinson	Feb 17, 2009	
+OMIM:211900	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL					HP:0005571	Increased renal tubular phosphate reabsorption			TAS	TAS							OMIM:211900	HPO:probinson	Feb 17, 2009	
+OMIM:211900	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL					HP:0006297	Hypoplasia of dental enamel			TAS	TAS							OMIM:211900	HPO:probinson	Feb 17, 2009	
+OMIM:211900	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL					HP:0007799	Conjunctival whitish salt-like deposits			TAS	TAS							OMIM:211900	HPO:probinson	Feb 17, 2009	
+OMIM:211900	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL					HP:0000121	Nephrocalcinosis			TAS	TAS							OMIM:211900	HPO:probinson	Nov 24, 2013	
+OMIM:211900	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL					HP:0003072	Hypercalcemia			TAS	TAS				NOT	NOT		OMIM:211900	HPO:probinson	May 24, 2014	
+OMIM:211900	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL					HP:0000843	Hyperparathyroidism			TAS	TAS				NOT	NOT		OMIM:211900	HPO:probinson	May 24, 2014	

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-229200.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-229200.tab	2014-05-24 09:03:10 UTC (rev 5159)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-229200.tab	2014-05-24 15:48:46 UTC (rev 5160)
@@ -1,17 +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	
 OMIM:229200	BRITTLE CORNEA SYNDROME					HP:0000007	Autosomal recessive inheritance			IEA	IEA							OMIM:229200	HPO	Feb 17, 2009	
 OMIM:229200	BRITTLE CORNEA SYNDROME					HP:0000256	Macrocephaly			IEA	IEA							OMIM:229200	HPO	Feb 17, 2009	
-OMIM:229200	BRITTLE CORNEA SYNDROME					HP:0000286	Epicanthus			IEA	IEA							OMIM:229200	HPO	Feb 17, 2009	
+OMIM:229200	BRITTLE CORNEA SYNDROME					HP:0000286	Epicanthus			TAS	TAS							OMIM:229200	HPO	Feb 17, 2009	
 OMIM:229200	BRITTLE CORNEA SYNDROME					HP:0000365	Hearing impairment			IEA	IEA							OMIM:229200	HPO	Feb 17, 2009	
 OMIM:229200	BRITTLE CORNEA SYNDROME					HP:0000545	Myopia			IEA	IEA							OMIM:229200	HPO	Feb 17, 2009	
-OMIM:229200	BRITTLE CORNEA SYNDROME					HP:0000563	Keratoconus			IEA	IEA							OMIM:229200	HPO	Feb 17, 2009	
+OMIM:229200	BRITTLE CORNEA SYNDROME					HP:0000563	Keratoconus			TAS	TAS							OMIM:229200	HPO	Feb 17, 2009	
 OMIM:229200	BRITTLE CORNEA SYNDROME					HP:0000572	Visual loss			IEA	IEA							OMIM:229200	HPO	Feb 17, 2009	
-OMIM:229200	BRITTLE CORNEA SYNDROME					HP:0000592	Blue sclerae			IEA	IEA							OMIM:229200	HPO	Feb 17, 2009	
+OMIM:229200	BRITTLE CORNEA SYNDROME					HP:0000592	Blue sclerae			TAS	TAS							OMIM:229200	HPO	Feb 17, 2009	
 OMIM:229200	BRITTLE CORNEA SYNDROME					HP:0000703	Dentinogenesis imperfecta			IEA	IEA							OMIM:229200	HPO	Feb 17, 2009	
 OMIM:229200	BRITTLE CORNEA SYNDROME					HP:0000987	Atypical scarring of skin			IEA	IEA							OMIM:229200	HPO	Feb 17, 2009	
 OMIM:229200	BRITTLE CORNEA SYNDROME					HP:0000993	Molluscoid pseudotumors			IEA	IEA							OMIM:229200	HPO	Feb 17, 2009	
 OMIM:229200	BRITTLE CORNEA SYNDROME					HP:0001016	Excessive wrinkled skin (palms and soles)			IEA	IEA							OMIM:229200	HPO	Feb 17, 2009	
-OMIM:229200	BRITTLE CORNEA SYNDROME					HP:0001119	Keratoglobus			IEA	IEA							OMIM:229200	HPO	Feb 17, 2009	
+OMIM:229200	BRITTLE CORNEA SYNDROME					HP:0001119	Keratoglobus			TAS	TAS							OMIM:229200	HPO	Feb 17, 2009	
 OMIM:229200	BRITTLE CORNEA SYNDROME					HP:0001374	Congenital hip dislocation			IEA	IEA							OMIM:229200	HPO	Feb 17, 2009	
 OMIM:229200	BRITTLE CORNEA SYNDROME					HP:0001388	Joint laxity			IEA	IEA							OMIM:229200	HPO	Feb 17, 2009	
 OMIM:229200	BRITTLE CORNEA SYNDROME					HP:0001519	Disproportionate tall stature			IEA	IEA							OMIM:229200	HPO	Feb 17, 2009	
@@ -20,3 +20,4 @@
 OMIM:229200	BRITTLE CORNEA SYNDROME					HP:0002650	Scoliosis			IEA	IEA							OMIM:229200	HPO	Feb 17, 2009	
 OMIM:229200	BRITTLE CORNEA SYNDROME					HP:0003302	Spondylolisthesis			IEA	IEA							OMIM:229200	HPO	Feb 17, 2009	
 OMIM:229200	BRITTLE CORNEA SYNDROME					HP:0000481	Abnormality of the cornea			TAS	TAS							OMIM:229200	HPO	May 24, 2014	
+OMIM:229200	BRITTLE CORNEA SYNDROME					HP:0100689	Decreased corneal thickness			PCS	PCS							pmid:23642083	HPO:probinson	May 24, 2014	

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-260565.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-260565.tab	2014-05-24 09:03:10 UTC (rev 5159)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-260565.tab	2014-05-24 15:48:46 UTC (rev 5160)
@@ -1,24 +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:260565	PEHO SYNDROME					HP:0000007	Autosomal recessive inheritance			IEA	IEA									17.02.2009
-MIM:260565	PEHO SYNDROME					HP:0000194	Open mouth			IEA	IEA									17.02.2009
-MIM:260565	PEHO SYNDROME					HP:0000253	Progressive microcephaly			IEA	IEA									17.02.2009
-MIM:260565	PEHO SYNDROME					HP:0000286	Epicanthus			IEA	IEA									17.02.2009
-MIM:260565	PEHO SYNDROME					HP:0000293	Full cheeks			IEA	IEA									17.02.2009
-MIM:260565	PEHO SYNDROME					HP:0001155	Abnormality of the hand			IEA	IEA									17.02.2009
-MIM:260565	PEHO SYNDROME					HP:0001250	Seizures			IEA	IEA									17.02.2009
-MIM:260565	PEHO SYNDROME					HP:0001347	Hyperreflexia			IEA	IEA									17.02.2009
-MIM:260565	PEHO SYNDROME					HP:0002053	Receding chin			IEA	IEA									17.02.2009
-MIM:260565	PEHO SYNDROME					HP:0002364	Cerebellar atrophy, progressive			IEA	IEA									17.02.2009
-MIM:260565	PEHO SYNDROME					HP:0002521	Hypsarrhythmia			IEA	IEA									17.02.2009
-MIM:260565	PEHO SYNDROME					HP:0003196	Nasal hypoplasia			IEA	IEA									17.02.2009
-MIM:260565	PEHO SYNDROME					HP:0003469	Dysmyelination			IEA	IEA									17.02.2009
-MIM:260565	PEHO SYNDROME					HP:0006829	Severe muscular hypotonia			IEA	IEA									17.02.2009
-MIM:260565	PEHO SYNDROME					HP:0007965	Absence of visual evoked potentials			IEA	IEA									17.02.2009
-MIM:260565	PEHO SYNDROME					HP:0000341	Narrow forehead			PCS	PCS							MIM:260565	HPO:probinson	11.04.2012
-MIM:260565	PEHO SYNDROME					HP:0000969	Edema			PCS	PCS							MIM:260565	HPO:probinson	11.04.2012
-MIM:260565	PEHO SYNDROME					HP:0008872	Feeding difficulties in infancy			PCS	PCS							MIM:260565	HPO:probinson	11.04.2012
-MIM:260565	PEHO SYNDROME					HP:0007281	Developmental stagnation			PCS	PCS							MIM:260565	HPO:probinson	11.04.2012
-MIM:260565	PEHO SYNDROME					HP:0002187	Intellectual disability, profound			PCS	PCS							MIM:260565	HPO:probinson	11.04.2012
-MIM:260565	PEHO SYNDROME					HP:0006948	Infantile encephalopathy, progressive			PCS	PCS							MIM:260565	HPO:probinson	11.04.2012
-MIM:260565	PEHO SYNDROME					HP:0000648	Optic atrophy			PCS	PCS							MIM:260565	HPO:probinson	11.04.2012
-MIM:260565	PEHO SYNDROME					HP:0002529	Neuronal loss in central nervous system			PCS	PCS							MIM:260565	HPO:probinson	11.04.2012
+MIM:260565	PEHO SYNDROME					HP:0000007	Autosomal recessive inheritance			IEA	IEA							MIM:260565	HPO:probinson	Feb 17, 2009	
+MIM:260565	PEHO SYNDROME					HP:0000194	Open mouth			IEA	IEA							MIM:260565	HPO:probinson	Feb 17, 2009	
+MIM:260565	PEHO SYNDROME					HP:0000253	Progressive microcephaly			IEA	IEA							MIM:260565	HPO:probinson	Feb 17, 2009	
+MIM:260565	PEHO SYNDROME					HP:0000286	Epicanthus			IEA	IEA							MIM:260565	HPO:probinson	Feb 17, 2009	
+MIM:260565	PEHO SYNDROME					HP:0000293	Full cheeks			IEA	IEA							MIM:260565	HPO:probinson	Feb 17, 2009	
+MIM:260565	PEHO SYNDROME					HP:0001155	Abnormality of the hand			IEA	IEA							MIM:260565	HPO:probinson	Feb 17, 2009	
+MIM:260565	PEHO SYNDROME					HP:0001250	Seizures			IEA	IEA							MIM:260565	HPO:probinson	Feb 17, 2009	
+MIM:260565	PEHO SYNDROME					HP:0001347	Hyperreflexia			IEA	IEA							MIM:260565	HPO:probinson	Feb 17, 2009	
+MIM:260565	PEHO SYNDROME					HP:0002053	Receding chin			IEA	IEA							MIM:260565	HPO:probinson	Feb 17, 2009	
+MIM:260565	PEHO SYNDROME					HP:0002364	Cerebellar atrophy, progressive			IEA	IEA							MIM:260565	HPO:probinson	Feb 17, 2009	
+MIM:260565	PEHO SYNDROME					HP:0002521	Hypsarrhythmia			IEA	IEA							MIM:260565	HPO:probinson	Feb 17, 2009	
+MIM:260565	PEHO SYNDROME					HP:0003196	Short nose			IEA	IEA							MIM:260565	HPO:probinson	Feb 17, 2009	
+MIM:260565	PEHO SYNDROME					HP:0003469	Peripheral dysmyelination			IEA	IEA							MIM:260565	HPO:probinson	Feb 17, 2009	
+MIM:260565	PEHO SYNDROME					HP:0006829	Severe muscular hypotonia			IEA	IEA							MIM:260565	HPO:probinson	Feb 17, 2009	
+MIM:260565	PEHO SYNDROME					HP:0007965	Absence of visual evoked potentials			IEA	IEA							MIM:260565	HPO:probinson	Feb 17, 2009	
+MIM:260565	PEHO SYNDROME					HP:0000341	Narrow forehead			TAS	TAS							MIM:260565	HPO:probinson	Apr 11, 2012	
+MIM:260565	PEHO SYNDROME					HP:0000969	Edema			PCS	PCS							MIM:260565	HPO:probinson	Apr 11, 2012	
+MIM:260565	PEHO SYNDROME					HP:0008872	Feeding difficulties in infancy			TAS	TAS							MIM:260565	HPO:probinson	Apr 11, 2012	
+MIM:260565	PEHO SYNDROME					HP:0007281	Developmental stagnation			PCS	PCS							MIM:260565	HPO:probinson	Apr 11, 2012	
+MIM:260565	PEHO SYNDROME					HP:0002187	Intellectual disability, profound			TAS	TAS							MIM:260565	HPO:probinson	Apr 11, 2012	
+MIM:260565	PEHO SYNDROME					HP:0007105	Infantile encephalopathy			TAS	TAS						Progressive	MIM:260565	HPO:probinson	Apr 11, 2012	
+MIM:260565	PEHO SYNDROME					HP:0000648	Optic atrophy			TAS	TAS							MIM:260565	HPO:probinson	Apr 11, 2012	
+MIM:260565	PEHO SYNDROME					HP:0002529	Neuronal loss in central nervous system			TAS	TAS							MIM:260565	HPO:probinson	Apr 11, 2012	

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614170.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614170.tab	2014-05-24 09:03:10 UTC (rev 5159)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614170.tab	2014-05-24 15:48:46 UTC (rev 5160)
@@ -1,12 +1,16 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:614170	#614170 BRITTLE CORNEA SYNDROME 2; BCS2					HP:0000592	Blue sclerae			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > BLUE SCLERAE	OMIM:614170	HPO:skoehler	17.10.2012
-OMIM:614170	#614170 BRITTLE CORNEA SYNDROME 2; BCS2					HP:0000563	Keratoconus			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > KERATOCONUS	OMIM:614170	HPO:skoehler	17.10.2012
-OMIM:614170	#614170 BRITTLE CORNEA SYNDROME 2; BCS2					HP:0001119	Keratoglobus			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > KERATOGLOBUS	OMIM:614170	HPO:skoehler	17.10.2012
-OMIM:614170	#614170 BRITTLE CORNEA SYNDROME 2; BCS2					HP:0000545	Myopia			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > MYOPIA	OMIM:614170	HPO:skoehler	17.10.2012
-OMIM:614170	#614170 BRITTLE CORNEA SYNDROME 2; BCS2					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE	OMIM:614170	HPO:skoehler	17.10.2012
-OMIM:614170	#614170 BRITTLE CORNEA SYNDROME 2; BCS2					HP:0000485	Megalocornea			IEA	IEA	rare					OMIM-CS:HEAD AND NECK_EYES > MEGALOCORNEA (IN SOME PATIENTS)	OMIM:614170	HPO:skoehler	18.11.2012
-OMIM:614170	#614170 BRITTLE CORNEA SYNDROME 2; BCS2					HP:0000647	Sclerocornea			IEA	IEA	rare					OMIM-CS:HEAD AND NECK_EYES > SCLEROCORNEA (IN SOME PATIENTS)	OMIM:614170	HPO:skoehler	18.11.2012
-OMIM:614170	#614170 BRITTLE CORNEA SYNDROME 2; BCS2					HP:0003326	Myalgia			IEA	IEA	rare					OMIM-CS:MUSCLE, SOFT TISSUE > MYALGIA (IN SOME PATIENTS)	OMIM:614170	HPO:skoehler	18.11.2012
-OMIM:614170	#614170 BRITTLE CORNEA SYNDROME 2; BCS2					HP:0001288	Gait disturbance			IEA	IEA	rare					OMIM-CS:SKELETAL > ABNORMAL GAIT (IN SOME PATIENTS)	OMIM:614170	HPO:skoehler	18.11.2012
-OMIM:614170	#614170 BRITTLE CORNEA SYNDROME 2; BCS2					HP:0002757	Recurrent fractures			IEA	IEA	rare					OMIM-CS:SKELETAL > INCREASED FRACTURES (IN SOME PATIENTS)	OMIM:614170	HPO:skoehler	18.11.2012
-OMIM:614170	#614170 BRITTLE CORNEA SYNDROME 2; BCS2					HP:0007720	Flat cornea			IEA	IEA	rare					OMIM-CS:HEAD AND NECK_EYES > CORNEA PLANA (IN SOME PATIENTS)	OMIM:614170	HPO:skoehler	22.10.2013
+Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created	
+OMIM:614170	#614170 BRITTLE CORNEA SYNDROME 2; BCS2					HP:0000592	Blue sclerae			TAS	TAS						OMIM-CS:HEAD AND NECK_EYES > BLUE SCLERAE	OMIM:614170	HPO:skoehler	Oct 17, 2012	
+OMIM:614170	#614170 BRITTLE CORNEA SYNDROME 2; BCS2					HP:0000563	Keratoconus			TAS	TAS						OMIM-CS:HEAD AND NECK_EYES > KERATOCONUS	OMIM:614170	HPO:skoehler	Oct 17, 2012	
+OMIM:614170	#614170 BRITTLE CORNEA SYNDROME 2; BCS2					HP:0001119	Keratoglobus			TAS	TAS						OMIM-CS:HEAD AND NECK_EYES > KERATOGLOBUS	OMIM:614170	HPO:skoehler	Oct 17, 2012	
+OMIM:614170	#614170 BRITTLE CORNEA SYNDROME 2; BCS2					HP:0000545	Myopia			TAS	TAS						OMIM-CS:HEAD AND NECK_EYES > MYOPIA	OMIM:614170	HPO:skoehler	Oct 17, 2012	
+OMIM:614170	#614170 BRITTLE CORNEA SYNDROME 2; BCS2					HP:0000007	Autosomal recessive inheritance			TAS	TAS						OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE	OMIM:614170	HPO:skoehler	Oct 17, 2012	
+OMIM:614170	#614170 BRITTLE CORNEA SYNDROME 2; BCS2					HP:0000485	Megalocornea			TAS	TAS	rare					OMIM-CS:HEAD AND NECK_EYES > MEGALOCORNEA (IN SOME PATIENTS)	OMIM:614170	HPO:skoehler	Nov 18, 2012	
+OMIM:614170	#614170 BRITTLE CORNEA SYNDROME 2; BCS2					HP:0000647	Sclerocornea			TAS	TAS	rare					OMIM-CS:HEAD AND NECK_EYES > SCLEROCORNEA (IN SOME PATIENTS)	OMIM:614170	HPO:skoehler	Nov 18, 2012	
+OMIM:614170	#614170 BRITTLE CORNEA SYNDROME 2; BCS2					HP:0003326	Myalgia			IEA	IEA	rare					OMIM-CS:MUSCLE, SOFT TISSUE > MYALGIA (IN SOME PATIENTS)	OMIM:614170	HPO:skoehler	Nov 18, 2012	
+OMIM:614170	#614170 BRITTLE CORNEA SYNDROME 2; BCS2					HP:0001288	Gait disturbance			IEA	IEA	rare					OMIM-CS:SKELETAL > ABNORMAL GAIT (IN SOME PATIENTS)	OMIM:614170	HPO:skoehler	Nov 18, 2012	
+OMIM:614170	#614170 BRITTLE CORNEA SYNDROME 2; BCS2					HP:0002757	Recurrent fractures			IEA	IEA	rare					OMIM-CS:SKELETAL > INCREASED FRACTURES (IN SOME PATIENTS)	OMIM:614170	HPO:skoehler	Nov 18, 2012	
+OMIM:614170	#614170 BRITTLE CORNEA SYNDROME 2; BCS2					HP:0007720	Flat cornea			IEA	IEA	rare					OMIM-CS:HEAD AND NECK_EYES > CORNEA PLANA (IN SOME PATIENTS)	OMIM:614170	HPO:skoehler	Oct 22, 2013	
+OMIM:614170	#614170 BRITTLE CORNEA SYNDROME 2; BCS2					HP:0000365	Hearing impairment			TAS	TAS							OMIM:614170	HPO:probinson	May 24, 2014	
+OMIM:614170	#614170 BRITTLE CORNEA SYNDROME 2; BCS2					HP:0100689	Decreased corneal thickness			TAS	TAS							OMIM:614170	HPO:probinson	May 24, 2014	
+OMIM:614170	#614170 BRITTLE CORNEA SYNDROME 2; BCS2					HP:0000023	Inguinal hernia			TAS	TAS	rare						OMIM:614170	HPO:probinson	May 24, 2014	
+OMIM:614170	#614170 BRITTLE CORNEA SYNDROME 2; BCS2					HP:0001537	Umbilical hernia			TAS	TAS	rare						OMIM:614170	HPO:probinson	May 24, 2014	

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[Obo-svn-commit] SF.net SVN: obo:[5159] phenotype-commons/annotations/OMIM/by-disease/ annotated

[<pr...@us...>]

Revision: 5159
          http://sourceforge.net/p/obo/svn/5159
Author:   probins
Date:     2014-05-24 09:03:10 +0000 (Sat, 24 May 2014)
Log Message:
-----------
Removed MOVED entries and updated annotations of corrected entries

Modified Paths:
--------------
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-115650.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-143470.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-177700.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-213600.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-219150.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-277590.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601547.tab

Removed Paths:
-------------
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607133.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607322.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608454.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608983.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610426.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610634.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611948.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612391.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612443.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612652.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613020.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613034.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613971.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614421.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614540.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615087.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615141.tab

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-115650.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-115650.tab	2014-05-24 08:35:40 UTC (rev 5158)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-115650.tab	2014-05-24 09:03:10 UTC (rev 5159)
@@ -1,3 +1,3 @@
 Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created	
-MIM:115650	CATARACT, ANTERIOR POLAR, 1					HP:0000006	Autosomal dominant inheritance			PCS	PCS							OMIM:115650	HPO	Feb 17, 2009	
-MIM:115650	CATARACT, ANTERIOR POLAR, 1					HP:0001134	Anterior polar cataract			PCS	PCS							OMIM:115650	HPO	Feb 17, 2009	
+MIM:115650	CATARACT, ANTERIOR POLAR, 1					HP:0000006	Autosomal dominant inheritance			TAS	TAS							OMIM:115650	HPO	Feb 17, 2009	
+MIM:115650	CATARACT, ANTERIOR POLAR, 1					HP:0001134	Anterior polar cataract			TAS	TAS							OMIM:115650	HPO	Feb 17, 2009	

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-143470.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-143470.tab	2014-05-24 08:35:40 UTC (rev 5158)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-143470.tab	2014-05-24 09:03:10 UTC (rev 5159)
@@ -1,7 +1,4 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:143470	HYPERALPHALIPOPROTEINEMIA					HP:0000707	Abnormality of the nervous system			IEA	IEA							OMIM:143470	HPO	17.02.2009
-OMIM:143470	HYPERALPHALIPOPROTEINEMIA					HP:0000951	Abnormality of the skin			IEA	IEA							OMIM:143470	HPO	17.02.2009
-OMIM:143470	HYPERALPHALIPOPROTEINEMIA					HP:0001626	Abnormality of the cardiovascular system			IEA	IEA							OMIM:143470	HPO	17.02.2009
-OMIM:143470	HYPERALPHALIPOPROTEINEMIA					HP:0001939	Abnormality of metabolism/homeostasis			IEA	IEA							OMIM:143470	HPO	17.02.2009
-OMIM:143470	HYPERALPHALIPOPROTEINEMIA					HP:0000991	Xanthomatosis			IEA	IEA				NOT	NOT		OMIM:143470	HPO:skoehler	18.06.2010
-OMIM:143470	#143470 HYPERALPHALIPOPROTEINEMIA 1; HALP1;;CHOLESTEROL ESTER TRANSFER PROTEIN DEFICIENCY;;CETP DEFICIENCYHIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS10, INCLUDED;;HDLCQ10, INCLUDED					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT	OMIM:143470	HPO:skoehler	17.10.2012
+Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created	
+OMIM:143470	HYPERALPHALIPOPROTEINEMIA					HP:0000991	Xanthomatosis			IEA	IEA				NOT	NOT		OMIM:143470	HPO:skoehler	Jun 18, 2010	
+OMIM:143470	#143470 HYPERALPHALIPOPROTEINEMIA 1; HALP1;;CHOLESTEROL ESTER TRANSFER PROTEIN DEFICIENCY;;CETP DEFICIENCYHIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS10, INCLUDED;;HDLCQ10, INCLUDED					HP:0000006	Autosomal dominant inheritance			TAS	TAS							OMIM:143470	HPO:skoehler	Oct 17, 2012	
+OMIM:143470	HYPERALPHALIPOPROTEINEMIA					HP:0012184	Hyperalphalipoproteinemia			TAS	TAS							OMIM:143470	HPO:probinson	May 24, 2014	

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-177700.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-177700.tab	2014-05-24 08:35:40 UTC (rev 5158)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-177700.tab	2014-05-24 09:03:10 UTC (rev 5159)
@@ -1,3 +1,4 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:177700	PSEUDOGLAUCOMA					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:177700	HPO	17.02.2009
-OMIM:177700	PSEUDOGLAUCOMA					HP:0007854	Glaucomatous visual field defect			IEA	IEA							OMIM:177700	HPO	17.02.2009
+Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created	
+OMIM:177700	PSEUDOGLAUCOMA					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:177700	HPO	Feb 17, 2009	
+OMIM:177700	PSEUDOGLAUCOMA					HP:0007854	Glaucomatous visual field defect			IEA	IEA							OMIM:177700	HPO	Feb 17, 2009	
+OMIM:177700	PSEUDOGLAUCOMA					HP:0003581	Adult onset			TAS	TAS							OMIM:177700	HPO:probinson	May 24, 2014	

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-213600.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-213600.tab	2014-05-24 08:35:40 UTC (rev 5158)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-213600.tab	2014-05-24 09:03:10 UTC (rev 5159)
@@ -1,26 +1,26 @@
 Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created	
-OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:213600	HPO	17.02.2009	
-OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0000020	Urinary incontinence			IEA	IEA							OMIM:213600	HPO	17.02.2009	
-OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0000298	Mask-like facies			IEA	IEA							OMIM:213600	HPO	17.02.2009	
-OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0000709	Psychosis			IEA	IEA							OMIM:213600	HPO	17.02.2009	
-OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0000716	Depression			IEA	IEA							OMIM:213600	HPO	17.02.2009	
-OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0001260	Dysarthria			IEA	IEA							OMIM:213600	HPO	17.02.2009	
-OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0001268	Mental deterioration			IEA	IEA							OMIM:213600	HPO	17.02.2009	
-OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0001288	Gait disturbance			IEA	IEA							OMIM:213600	HPO	17.02.2009	
-OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0001300	Parkinsonism			IEA	IEA							OMIM:213600	HPO	17.02.2009	
-OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0001332	Dystonia			IEA	IEA							OMIM:213600	HPO	17.02.2009	
-OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0001337	Tremor			IEA	IEA							OMIM:213600	HPO	17.02.2009	
-OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0001347	Hyperreflexia			IEA	IEA							OMIM:213600	HPO	17.02.2009	
-OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0002063	Rigidity			IEA	IEA							OMIM:213600	HPO	17.02.2009	
-OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0002067	Bradykinesia			IEA	IEA							OMIM:213600	HPO	17.02.2009	
-OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0002072	Chorea			IEA	IEA							OMIM:213600	HPO	17.02.2009	
-OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0002075	Dysdiadochokinesis			IEA	IEA							OMIM:213600	HPO	17.02.2009	
-OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0002135	Basal ganglia calcification			IEA	IEA							OMIM:213600	HPO	17.02.2009	
-OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0002172	Postural instability			IEA	IEA							OMIM:213600	HPO	17.02.2009	
-OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0002305	Athetosis			IEA	IEA							OMIM:213600	HPO	17.02.2009	
-OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0002354	Memory impairment			IEA	IEA							OMIM:213600	HPO	17.02.2009	
-OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0002406	Limb dysmetria			IEA	IEA							OMIM:213600	HPO	17.02.2009	
-OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0002461	Dense calcifications in the cerebellar dentate nucleus			IEA	IEA							OMIM:213600	HPO	17.02.2009	
-OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0002504	Calcification of the small brain vessels			IEA	IEA							OMIM:213600	HPO	17.02.2009	
-OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0003581	Adult onset			IEA	IEA							OMIM:213600	HPO	17.02.2009	
-OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0003676	Progressive disorder			IEA	IEA							OMIM:213600	HPO	17.02.2009	
+OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:213600	HPO	Feb 17, 2009	
+OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0000020	Urinary incontinence			IEA	IEA							OMIM:213600	HPO	Feb 17, 2009	
+OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0000298	Mask-like facies			IEA	IEA							OMIM:213600	HPO	Feb 17, 2009	
+OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0000709	Psychosis			IEA	IEA							OMIM:213600	HPO	Feb 17, 2009	
+OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0000716	Depression			IEA	IEA							OMIM:213600	HPO	Feb 17, 2009	
+OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0001260	Dysarthria			IEA	IEA							OMIM:213600	HPO	Feb 17, 2009	
+OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0001268	Mental deterioration			IEA	IEA							OMIM:213600	HPO	Feb 17, 2009	
+OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0001288	Gait disturbance			IEA	IEA							OMIM:213600	HPO	Feb 17, 2009	
+OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0001300	Parkinsonism			IEA	IEA							OMIM:213600	HPO	Feb 17, 2009	
+OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0001332	Dystonia			IEA	IEA							OMIM:213600	HPO	Feb 17, 2009	
+OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0001337	Tremor			IEA	IEA							OMIM:213600	HPO	Feb 17, 2009	
+OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0001347	Hyperreflexia			IEA	IEA							OMIM:213600	HPO	Feb 17, 2009	
+OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0002063	Rigidity			IEA	IEA							OMIM:213600	HPO	Feb 17, 2009	
+OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0002067	Bradykinesia			IEA	IEA							OMIM:213600	HPO	Feb 17, 2009	
+OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0002072	Chorea			IEA	IEA							OMIM:213600	HPO	Feb 17, 2009	
+OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0002075	Dysdiadochokinesis			IEA	IEA							OMIM:213600	HPO	Feb 17, 2009	
+OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0002135	Basal ganglia calcification			TAS	TAS							OMIM:213600	HPO:probinson	Feb 17, 2009	
+OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0002172	Postural instability			IEA	IEA							OMIM:213600	HPO	Feb 17, 2009	
+OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0002305	Athetosis			IEA	IEA							OMIM:213600	HPO	Feb 17, 2009	
+OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0002354	Memory impairment			IEA	IEA							OMIM:213600	HPO	Feb 17, 2009	
+OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0002406	Limb dysmetria			IEA	IEA							OMIM:213600	HPO	Feb 17, 2009	
+OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0002461	Dense calcifications in the cerebellar dentate nucleus			IEA	IEA							OMIM:213600	HPO	Feb 17, 2009	
+OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0002504	Calcification of the small brain vessels			IEA	IEA							OMIM:213600	HPO	Feb 17, 2009	
+OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0003581	Adult onset			IEA	IEA							OMIM:213600	HPO	Feb 17, 2009	
+OMIM:213600	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1					HP:0003676	Progressive disorder			IEA	IEA							OMIM:213600	HPO	Feb 17, 2009	

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-219150.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-219150.tab	2014-05-24 08:35:40 UTC (rev 5158)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-219150.tab	2014-05-24 09:03:10 UTC (rev 5159)
@@ -1,42 +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
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0000007	Autosomal recessive inheritance			IEA	IEA							OMIM:219150	HPO	17.02.2009
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0000023	Inguinal hernia			IEA	IEA							OMIM:219150	HPO	17.02.2009
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0000160	Narrow mouth			IEA	IEA							OMIM:219150	HPO:skoehler	18.06.2010
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0000239	Large fontanelles			IEA	IEA							OMIM:219150	HPO:skoehler	18.06.2010
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0000248	Brachycephaly			IEA	IEA							OMIM:219150	HPO:skoehler	18.06.2010
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0000316	Hypertelorism			IEA	IEA							OMIM:219150	HPO:skoehler	18.06.2010
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0000369	Low-set ears			IEA	IEA							OMIM:219150	HPO:skoehler	18.06.2010
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0000400	Macrotia			IEA	IEA							OMIM:219150	HPO:skoehler	18.06.2010
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0000418	Pinched nose			IEA	IEA							OMIM:219150	HPO:skoehler	18.06.2010
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0000486	Strabismus			IEA	IEA							OMIM:219150	HPO:skoehler	18.06.2010
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0000518	Cataract			IEA	IEA							OMIM:219150	HPO	17.02.2009
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0000545	Myopia			IEA	IEA							OMIM:219150	HPO:skoehler	18.06.2010
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0000601	Hypotelorism			IEA	IEA							OMIM:219150	HPO:skoehler	18.06.2010
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0000767	Pectus excavatum			IEA	IEA							OMIM:219150	HPO:skoehler	18.06.2010
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0000963	Thin skin			IEA	IEA							OMIM:219150	HPO:skoehler	20.06.2010
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0000973	Cutis laxa			IEA	IEA							OMIM:219150	HPO	17.02.2009
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0001084	Corneal arcus			IEA	IEA							OMIM:219150	HPO	17.02.2009
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0001181	Adducted thumb			IEA	IEA							OMIM:219150	HPO:skoehler	18.06.2010
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0001249	Intellectual disability			IEA	IEA							OMIM:219150	HPO	17.02.2009
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0001250	Seizures			IEA	IEA							OMIM:219150	HPO:skoehler	18.06.2010
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0001252	Muscular hypotonia			IEA	IEA							OMIM:219150	HPO	17.02.2009
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0001263	Global developmental delay			IEA	IEA							OMIM:219150	HPO:skoehler	18.06.2010
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0001347	Hyperreflexia			IEA	IEA							OMIM:219150	HPO:skoehler	18.06.2010
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0001374	Congenital hip dislocation			IEA	IEA							OMIM:219150	HPO:skoehler	18.06.2010
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0001382	Joint hypermobility			IEA	IEA							OMIM:219150	HPO:skoehler	18.06.2010
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0001420	Isolated cases			IEA	IEA							OMIM:219150	HPO:skoehler	19.06.2010
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0001508	Failure to thrive			IEA	IEA							OMIM:219150	HPO:skoehler	18.06.2010
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0001511	Intrauterine growth retardation			IEA	IEA							OMIM:219150	HPO:skoehler	18.06.2010
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0001537	Umbilical hernia			IEA	IEA							OMIM:219150	HPO:skoehler	18.06.2010
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0001762	Talipes equinovarus			IEA	IEA							OMIM:219150	HPO:skoehler	18.06.2010
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0001939	Abnormality of metabolism/homeostasis			IEA	IEA							OMIM:219150	HPO	17.02.2009
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0002007	Frontal bossing			IEA	IEA							OMIM:219150	HPO:skoehler	18.06.2010
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0002305	Athetosis			IEA	IEA							OMIM:219150	HPO:skoehler	18.06.2010
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0002645	Wormian bones			IEA	IEA							OMIM:219150	HPO:skoehler	18.06.2010
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0002650	Scoliosis			IEA	IEA							OMIM:219150	HPO:skoehler	18.06.2010
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0002750	Delayed skeletal maturation			IEA	IEA							OMIM:219150	HPO:skoehler	18.06.2010
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0003510	Severe short stature			IEA	IEA							OMIM:219150	HPO	17.02.2009
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0007394	Prominent superficial blood vessels			IEA	IEA							OMIM:219150	HPO	17.02.2009
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0008070	Sparse hair			IEA	IEA							OMIM:219150	HPO:skoehler	18.06.2010
-OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0010537	Wide cranial sutures			IEA	IEA							OMIM:219150	HPO:skoehler	18.06.2010
-OMIM:219150	#219150 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A;;DE BARSY SYNDROME A;;CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION;;PROGEROID SYNDROME OF DE BARSY					HP:0011220	Prominent forehead			IEA	IEA						OMIM-CS:HEAD AND NECK_HEAD > PROMINENT FOREHEAD	OMIM:219150	HPO:skoehler	17.10.2012
+Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created	
+OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0000007	Autosomal recessive inheritance			IEA	IEA							OMIM:219150	HPO	Feb 17, 2009	
+OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0000023	Inguinal hernia			IEA	IEA							OMIM:219150	HPO	Feb 17, 2009	
+OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0000160	Narrow mouth			IEA	IEA							OMIM:219150	HPO:skoehler	Jun 18, 2010	
+OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0000239	Large fontanelles			IEA	IEA							OMIM:219150	HPO:skoehler	Jun 18, 2010	
+OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0000248	Brachycephaly			IEA	IEA							OMIM:219150	HPO:skoehler	Jun 18, 2010	
+OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0000316	Hypertelorism			IEA	IEA							OMIM:219150	HPO:skoehler	Jun 18, 2010	
+OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0000369	Low-set ears			IEA	IEA							OMIM:219150	HPO:skoehler	Jun 18, 2010	
+OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0000400	Macrotia			IEA	IEA							OMIM:219150	HPO:skoehler	Jun 18, 2010	
+OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0000418	Narrow nasal ridge			IEA	IEA							OMIM:219150	HPO:skoehler	Jun 18, 2010	
+OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0000486	Strabismus			IEA	IEA							OMIM:219150	HPO:skoehler	Jun 18, 2010	
+OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0000518	Cataract			IEA	IEA							OMIM:219150	HPO	Feb 17, 2009	
+OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0000545	Myopia			IEA	IEA							OMIM:219150	HPO:skoehler	Jun 18, 2010	
+OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0000601	Hypotelorism			IEA	IEA							OMIM:219150	HPO:skoehler	Jun 18, 2010	
+OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0000767	Pectus excavatum			IEA	IEA							OMIM:219150	HPO:skoehler	Jun 18, 2010	
+OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0000963	Thin skin			IEA	IEA							OMIM:219150	HPO:skoehler	Jun 20, 2010	
+OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0000973	Cutis laxa			IEA	IEA							OMIM:219150	HPO	Feb 17, 2009	
+OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0001084	Corneal arcus			IEA	IEA							OMIM:219150	HPO	Feb 17, 2009	
+OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0001181	Adducted thumb			IEA	IEA							OMIM:219150	HPO:skoehler	Jun 18, 2010	
+OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0001249	Intellectual disability			IEA	IEA							OMIM:219150	HPO	Feb 17, 2009	
+OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0001250	Seizures			IEA	IEA							OMIM:219150	HPO:skoehler	Jun 18, 2010	
+OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0001252	Muscular hypotonia			IEA	IEA							OMIM:219150	HPO	Feb 17, 2009	
+OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0001263	Global developmental delay			IEA	IEA							OMIM:219150	HPO:skoehler	Jun 18, 2010	
+OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0001347	Hyperreflexia			IEA	IEA							OMIM:219150	HPO:skoehler	Jun 18, 2010	
+OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0001374	Congenital hip dislocation			IEA	IEA							OMIM:219150	HPO:skoehler	Jun 18, 2010	
+OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0001382	Joint hypermobility			IEA	IEA							OMIM:219150	HPO:skoehler	Jun 18, 2010	
+OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0001420	Isolated cases			IEA	IEA							OMIM:219150	HPO:skoehler	Jun 19, 2010	
+OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0001508	Failure to thrive			IEA	IEA							OMIM:219150	HPO:skoehler	Jun 18, 2010	
+OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0001511	Intrauterine growth retardation			IEA	IEA							OMIM:219150	HPO:skoehler	Jun 18, 2010	
+OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0001537	Umbilical hernia			IEA	IEA							OMIM:219150	HPO:skoehler	Jun 18, 2010	
+OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0001762	Talipes equinovarus			IEA	IEA							OMIM:219150	HPO:skoehler	Jun 18, 2010	
+OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0002007	Frontal bossing			IEA	IEA							OMIM:219150	HPO:skoehler	Jun 18, 2010	
+OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0002305	Athetosis			IEA	IEA							OMIM:219150	HPO:skoehler	Jun 18, 2010	
+OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0002645	Wormian bones			IEA	IEA							OMIM:219150	HPO:skoehler	Jun 18, 2010	
+OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0002650	Scoliosis			IEA	IEA							OMIM:219150	HPO:skoehler	Jun 18, 2010	
+OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0002750	Delayed skeletal maturation			IEA	IEA							OMIM:219150	HPO:skoehler	Jun 18, 2010	
+OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0003510	Severe short stature			IEA	IEA							OMIM:219150	HPO	Feb 17, 2009	
+OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0007394	Prominent superficial blood vessels			IEA	IEA							OMIM:219150	HPO	Feb 17, 2009	
+OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0008070	Sparse hair			IEA	IEA							OMIM:219150	HPO:skoehler	Jun 18, 2010	
+OMIM:219150	CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION					HP:0010537	Wide cranial sutures			IEA	IEA							OMIM:219150	HPO:skoehler	Jun 18, 2010	
+OMIM:219150	#219150 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A;;DE BARSY SYNDROME A;;CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION;;PROGEROID SYNDROME OF DE BARSY					HP:0011220	Prominent forehead			IEA	IEA						OMIM-CS:HEAD AND NECK_HEAD > PROMINENT FOREHEAD	OMIM:219150	HPO:skoehler	Oct 17, 2012	

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-277590.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-277590.tab	2014-05-24 08:35:40 UTC (rev 5158)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-277590.tab	2014-05-24 09:03:10 UTC (rev 5159)
@@ -28,10 +28,9 @@
 OMIM:277590	WEAVER SYNDROME					HP:0001377	Limited elbow extension			IEA	IEA							OMIM:277590	HPO	Feb 17, 2009	
 OMIM:277590	WEAVER SYNDROME					HP:0001537	Umbilical hernia			IEA	IEA							OMIM:277590	HPO	Feb 17, 2009	
 OMIM:277590	WEAVER SYNDROME					HP:0001540	Diastasis recti			IEA	IEA							OMIM:277590	HPO	Feb 17, 2009	
-OMIM:277590	WEAVER SYNDROME					HP:0001608	Abnormality of the voice			IEA	IEA							OMIM:277590	HPO	Feb 17, 2009	
 OMIM:277590	WEAVER SYNDROME					HP:0001761	Pes cavus			IEA	IEA							OMIM:277590	HPO	Feb 17, 2009	
 OMIM:277590	WEAVER SYNDROME					HP:0001762	Talipes equinovarus			IEA	IEA							OMIM:277590	HPO	Feb 17, 2009	
-OMIM:277590	WEAVER SYNDROME					HP:0001814	Thin, deep-set nails			IEA	IEA							OMIM:277590	HPO	Feb 17, 2009	
+OMIM:277590	WEAVER SYNDROME					HP:0001814	Deep-set nails			IEA	IEA							OMIM:277590	HPO	Feb 17, 2009	
 OMIM:277590	WEAVER SYNDROME					HP:0001840	Metatarsus adductus			IEA	IEA							OMIM:277590	HPO	Feb 17, 2009	
 OMIM:277590	WEAVER SYNDROME					HP:0001845	Overlapping toe			IEA	IEA							OMIM:277590	HPO	Feb 17, 2009	
 OMIM:277590	WEAVER SYNDROME					HP:0001848	Calcaneovalgus deformity			IEA	IEA							OMIM:277590	HPO	Feb 17, 2009	
@@ -51,9 +50,10 @@
 OMIM:277590	WEAVER SYNDROME					HP:0200000	Dysharmonic bone age			IEA	IEA							OMIM:277590	HPO:skoehler	Jun 20, 2010	
 OMIM:277590	WEAVER SYNDROME					HP:0000303	Mandibular prognathia			TAS	TAS							OMIM:277590	HPO:probinson	Apr 30, 2012	
 OMIM:277590	WEAVER SYNDROME					HP:0010751	Chin dimple			TAS	TAS							OMIM:277590	HPO:probinson	Apr 30, 2012	
-OMIM:277590	#277590 WEAVER SYNDROME 1; WVS1;;WEAVER-SMITH SYNDROME; WSSWEAVER-LIKE SYNDROME, INCLUDED					HP:0000708	Behavioural/Psychiatric Abnormality			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > BEHAVIORAL PROBLEMS	OMIM:277590	HPO:skoehler	Oct 17, 2012	
+OMIM:277590	#277590 WEAVER SYNDROME 1; WVS1;;WEAVER-SMITH SYNDROME; WSSWEAVER-LIKE SYNDROME, INCLUDED					HP:0000708	Behavioral abnormality			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > BEHAVIORAL PROBLEMS	OMIM:277590	HPO:skoehler	Oct 17, 2012	
 OMIM:277590	#277590 WEAVER SYNDROME 1; WVS1;;WEAVER-SMITH SYNDROME; WSSWEAVER-LIKE SYNDROME, INCLUDED					HP:0001263	Global developmental delay			TAS	TAS							OMIM:277590	HPO:skoehler	Oct 17, 2012	
 OMIM:277590	#277590 WEAVER SYNDROME 1; WVS1;;WEAVER-SMITH SYNDROME; WSSWEAVER-LIKE SYNDROME, INCLUDED					HP:0001249	Intellectual disability			TAS	TAS							OMIM:277590	HPO:skoehler	Oct 17, 2012	
 OMIM:277590	#277590 WEAVER SYNDROME 1; WVS1;;WEAVER-SMITH SYNDROME; WSSWEAVER-LIKE SYNDROME, INCLUDED					HP:0001257	Spasticity			TAS	TAS							OMIM:277590	HPO:skoehler	Oct 17, 2012	
 OMIM:277590	WEAVER SYNDROME					HP:0001816	Thin nail			TAS	TAS							OMIM:277590	HPO:probinson	Aug 9, 2013	
-OMIM:277590	#277590 WEAVER SYNDROME; WVS;;WEAVER-SMITH SYNDROME; WSSWEAVER-LIKE SYNDROME, INCLUDED					HP:0012385	Camptodactyly			IEA	IEA						OMIM-CS:SKELETAL_HANDS > CAMPTODACTYLY	OMIM:277590	HPO:skoehler	22.10.2013
+OMIM:277590	#277590 WEAVER SYNDROME; WVS;;WEAVER-SMITH SYNDROME; WSSWEAVER-LIKE SYNDROME, INCLUDED					HP:0012385	Camptodactyly			IEA	IEA						OMIM-CS:SKELETAL_HANDS > CAMPTODACTYLY	OMIM:277590	HPO:skoehler	Oct 22, 2013	
+OMIM:277590	WEAVER SYNDROME					HP:0010300	Abnormally low-pitched voice			TAS	TAS							OMIM:277590	HPO:probinson	May 24, 2014	

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601547.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601547.tab	2014-05-24 08:35:40 UTC (rev 5158)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601547.tab	2014-05-24 09:03:10 UTC (rev 5159)
@@ -1,3 +1,4 @@
 Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created	
-OMIM:601547	#601547 CATARACT, CONGENITAL, CERULEAN TYPE, 2; CCA2;;CATARACT, CONGENITAL, 'BLUE DOT' TYPE, 2					HP:0007976	Cerulean cataract	HP:0003577	Congenital onset	IEA	IEA	obligate						OMIM:601547	HPO:skoehler	Jan 9, 2013	
-OMIM:601547	#601547 CATARACT, CONGENITAL, CERULEAN TYPE, 2; CCA2;;CATARACT, CONGENITAL, 'BLUE DOT' TYPE, 2					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:601547	HPO:skoehler	Jan 11, 2013	
+OMIM:601547	#601547 CATARACT, CONGENITAL, CERULEAN TYPE, 2; CCA2;;CATARACT, CONGENITAL, 'BLUE DOT' TYPE, 2					HP:0007976	Cerulean cataract	HP:0003577	Congenital onset	TAS	TAS	obligate						OMIM:601547	HPO:skoehler	Jan 9, 2013	
+OMIM:601547	#601547 CATARACT, CONGENITAL, CERULEAN TYPE, 2; CCA2;;CATARACT, CONGENITAL, 'BLUE DOT' TYPE, 2					HP:0000006	Autosomal dominant inheritance			PCS	PCS							pmid:11424921	HPO:skoehler	Jan 11, 2013	
+OMIM:601547	#601547 CATARACT, CONGENITAL, CERULEAN TYPE, 2; CCA2;;CATARACT, CONGENITAL, 'BLUE DOT' TYPE, 2					HP:0010695	Sutural cataract			PCS	PCS							pmid:11424921	HPO:skoehler	May 24, 2014	

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607133.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607133.tab	2014-05-24 08:35:40 UTC (rev 5158)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607133.tab	2014-05-24 09:03:10 UTC (rev 5159)
@@ -1,3 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created	
-OMIM:607133	#607133 CATARACT, SUTURAL, WITH PUNCTATE AND CERULEAN OPACITIES;;CSPC				CRYBB2	HP:0000006	Autosomal dominant inheritance			PCS	PCS							pmid:11424921	HPO:probinson	Jan 9, 2013	
-OMIM:607133	#607133 CATARACT, SUTURAL, WITH PUNCTATE AND CERULEAN OPACITIES;;CSPC				CRYBB2	HP:0010695	Sutural cataract			PCS	PCS							pmid:11424921	HPO:probinson	Feb 25, 2013	

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607322.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607322.tab	2014-05-24 08:35:40 UTC (rev 5158)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607322.tab	2014-05-24 09:03:10 UTC (rev 5159)
@@ -1,3 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:607322	CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCY					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:607322	HPO	17.02.2009
-OMIM:607322	CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCY					HP:0001939	Abnormality of metabolism/homeostasis			IEA	IEA							OMIM:607322	HPO	17.02.2009

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608454.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608454.tab	2014-05-24 08:35:40 UTC (rev 5158)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608454.tab	2014-05-24 09:03:10 UTC (rev 5159)
@@ -1,19 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:608454	KNOBLOCH SYNDROME, TYPE II					HP:0000007	Autosomal recessive inheritance			IEA	IEA							OMIM:608454	HPO	17.02.2009
-OMIM:608454	KNOBLOCH SYNDROME, TYPE II					HP:0000268	Dolichocephaly			IEA	IEA							OMIM:608454	HPO	17.02.2009
-OMIM:608454	KNOBLOCH SYNDROME, TYPE II					HP:0000394	Lop ear			IEA	IEA							OMIM:608454	HPO	17.02.2009
-OMIM:608454	KNOBLOCH SYNDROME, TYPE II					HP:0000541	Retinal detachment			IEA	IEA							OMIM:608454	HPO	17.02.2009
-OMIM:608454	KNOBLOCH SYNDROME, TYPE II					HP:0000655	Vitreoretinal degeneration			IEA	IEA							OMIM:608454	HPO	17.02.2009
-OMIM:608454	KNOBLOCH SYNDROME, TYPE II					HP:0001195	Single umbilical artery			IEA	IEA							OMIM:608454	HPO	17.02.2009
-OMIM:608454	KNOBLOCH SYNDROME, TYPE II					HP:0001595	Abnormality of the hair			IEA	IEA							OMIM:608454	HPO	17.02.2009
-OMIM:608454	KNOBLOCH SYNDROME, TYPE II					HP:0001629	Ventricular septal defect			IEA	IEA							OMIM:608454	HPO	17.02.2009
-OMIM:608454	KNOBLOCH SYNDROME, TYPE II					HP:0001643	Patent ductus arteriosus			IEA	IEA							OMIM:608454	HPO	17.02.2009
-OMIM:608454	KNOBLOCH SYNDROME, TYPE II					HP:0002021	Pyloric stenosis			IEA	IEA							OMIM:608454	HPO	17.02.2009
-OMIM:608454	KNOBLOCH SYNDROME, TYPE II					HP:0002085	Occipital encephalocele			IEA	IEA							OMIM:608454	HPO	17.02.2009
-OMIM:608454	KNOBLOCH SYNDROME, TYPE II					HP:0002789	Tachypnea			IEA	IEA							OMIM:608454	HPO	17.02.2009
-OMIM:608454	KNOBLOCH SYNDROME, TYPE II					HP:0006529	Abnormal pulmonary lymphatics			IEA	IEA							OMIM:608454	HPO	17.02.2009
-OMIM:608454	KNOBLOCH SYNDROME, TYPE II					HP:0011003	Severe Myopia			IEA	IEA							OMIM:608454	HPO	17.02.2009
-OMIM:608454	#608454 KNOBLOCH SYNDROME 2; KNO2					HP:0000518	Cataract			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > CATARACT	OMIM:608454	HPO:skoehler	17.10.2012
-OMIM:608454	#608454 KNOBLOCH SYNDROME 2; KNO2					HP:0001083	Ectopia lentis			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > ECTOPIA LENTIS	OMIM:608454	HPO:skoehler	17.10.2012
-OMIM:608454	#608454 KNOBLOCH SYNDROME 2; KNO2					HP:0000505	Visual impairment			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > POOR VISION	OMIM:608454	HPO:skoehler	17.10.2012
-OMIM:608454	#608454 KNOBLOCH SYNDROME 2; KNO2					HP:0002436	Occipital meningocele			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > OCCIPITAL MENINGOCELE	OMIM:608454	HPO:skoehler	17.10.2012

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608983.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608983.tab	2014-05-24 08:35:40 UTC (rev 5158)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608983.tab	2014-05-24 09:03:10 UTC (rev 5159)
@@ -1,3 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created	
-OMIM:608983	#608983 CATARACT, CONGENITAL, CERULEAN TYPE, 3; CCA3;;CATARACT, CONGENITAL, 'BLUE DOT' TYPE, 3				CRYGD	HP:0000006	Autosomal dominant inheritance			TAS	TAS							OMIM:608983	HPO:probinson	Jan 9, 2013	
-OMIM:608983	#608983 CATARACT, CONGENITAL, CERULEAN TYPE, 3; CCA3;;CATARACT, CONGENITAL, 'BLUE DOT' TYPE, 3				CRYGD	HP:0007976	Cerulean cataract	HP:0003577	Congenital onset	TAS	TAS							OMIM:608983	HPO:probinson	Mar 30, 2013	

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610426.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610426.tab	2014-05-24 08:35:40 UTC (rev 5158)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610426.tab	2014-05-24 09:03:10 UTC (rev 5159)
@@ -1,5 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created	
-OMIM:610426	#610426 MICROPHTHALMIA, ISOLATED, WITH CATARACT 4; MCOPCT4				CRYBA4	HP:0000568	Microphthalmos			PCS	PCS							pmid:16960806	HPO:probinson	Jan 9, 2013	
-OMIM:610426	#610426 MICROPHTHALMIA, ISOLATED, WITH CATARACT 4; MCOPCT4				CRYBA4	HP:0000518	Cataract			PCS	PCS							pmid:16960806	HPO:probinson	Feb 28, 2013	
-OMIM:610426	#610426 MICROPHTHALMIA, ISOLATED, WITH CATARACT 4; MCOPCT4				CRYBA4	HP:0000663	Enophthalmos			PCS	PCS							pmid:16960806	HPO:probinson	Feb 28, 2013	
-OMIM:610426	#610426 MICROPHTHALMIA, ISOLATED, WITH CATARACT 4; MCOPCT4				CRYBA4	HP:0000006	Autosomal dominant inheritance			PCS	PCS							pmid:16960806	HPO:probinson	Feb 28, 2013	

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610634.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610634.tab	2014-05-24 08:35:40 UTC (rev 5158)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610634.tab	2014-05-24 09:03:10 UTC (rev 5159)
@@ -1,3 +0,0 @@
-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:610634	CATARACT, POSTERIOR POLAR, 5					HP:0000006	Autosomal dominant inheritance			PCS	PCS							OMIM:610634	HPO	17.02.2009
-MIM:610634	CATARACT, POSTERIOR POLAR, 5					HP:0001115	Posterior polar cataract			PCS	PCS							pmid:17047090	HPO	17.02.2009

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611948.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611948.tab	2014-05-24 08:35:40 UTC (rev 5158)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611948.tab	2014-05-24 09:03:10 UTC (rev 5159)
@@ -1,15 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:611948	KNOBLOCH SYNDROME, TYPE III					HP:0000007	Autosomal recessive inheritance			IEA	IEA							OMIM:611948	HPO:skoehler	19.06.2010
-OMIM:611948	KNOBLOCH SYNDROME, TYPE III					HP:0000501	Glaucoma			IEA	IEA							OMIM:611948	HPO:skoehler	19.06.2010
-OMIM:611948	KNOBLOCH SYNDROME, TYPE III					HP:0000518	Cataract			IEA	IEA							OMIM:611948	HPO:skoehler	19.06.2010
-OMIM:611948	KNOBLOCH SYNDROME, TYPE III					HP:0000533	Chorioretinal atrophy			IEA	IEA							OMIM:611948	HPO:skoehler	19.06.2010
-OMIM:611948	KNOBLOCH SYNDROME, TYPE III					HP:0000608	Macular degeneration			IEA	IEA							OMIM:611948	HPO:skoehler	19.06.2010
-OMIM:611948	KNOBLOCH SYNDROME, TYPE III					HP:0000618	Blindness			IEA	IEA							OMIM:611948	HPO:skoehler	20.06.2010
-OMIM:611948	KNOBLOCH SYNDROME, TYPE III					HP:0000639	Nystagmus			IEA	IEA							OMIM:611948	HPO:skoehler	19.06.2010
-OMIM:611948	KNOBLOCH SYNDROME, TYPE III					HP:0000655	Vitreoretinal degeneration			IEA	IEA							OMIM:611948	HPO:skoehler	19.06.2010
-OMIM:611948	KNOBLOCH SYNDROME, TYPE III					HP:0000662	Night blindness			IEA	IEA							OMIM:611948	HPO:skoehler	19.06.2010
-OMIM:611948	KNOBLOCH SYNDROME, TYPE III					HP:0000667	Phthisis bulbi			IEA	IEA							OMIM:611948	HPO:skoehler	19.06.2010
-OMIM:611948	KNOBLOCH SYNDROME, TYPE III					HP:0001132	Lens subluxation			IEA	IEA							OMIM:611948	HPO:skoehler	19.06.2010
-OMIM:611948	KNOBLOCH SYNDROME, TYPE III					HP:0001150	Choroidal sclerosis			IEA	IEA							OMIM:611948	HPO:skoehler	19.06.2010
-OMIM:611948	KNOBLOCH SYNDROME, TYPE III					HP:0007385	Aplasia cutis congenita of scalp			IEA	IEA							OMIM:611948	HPO:skoehler	20.06.2010
-OMIM:611948	KNOBLOCH SYNDROME, TYPE III					HP:0011003	Severe Myopia			IEA	IEA							OMIM:611948	HPO:skoehler	19.06.2010

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612391.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612391.tab	2014-05-24 08:35:40 UTC (rev 5158)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612391.tab	2014-05-24 09:03:10 UTC (rev 5159)
@@ -1,21 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:612391	HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY,					HP:0000007	Autosomal recessive inheritance			IEA	IEA							OMIM:612391	HPO:skoehler	19.06.2010
-OMIM:612391	HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY,					HP:0000027	Azoospermia			IEA	IEA							OMIM:612391	HPO:skoehler	20.06.2010
-OMIM:612391	HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY,					HP:0000054	Micropenis			IEA	IEA							OMIM:612391	HPO:skoehler	19.06.2010
-OMIM:612391	HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY,					HP:0000407	Sensorineural hearing impairment			IEA	IEA							OMIM:612391	HPO:skoehler	19.06.2010
-OMIM:612391	HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY,					HP:0000520	Proptosis			IEA	IEA							OMIM:612391	HPO:skoehler	19.06.2010
-OMIM:612391	HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY,					HP:0000771	Gynecomastia			IEA	IEA							OMIM:612391	HPO:skoehler	19.06.2010
-OMIM:612391	HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY,					HP:0000815	Hypergonadotropic hypogonadism			IEA	IEA							OMIM:612391	HPO:skoehler	19.06.2010
-OMIM:612391	HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY,					HP:0000819	Diabetes mellitus			IEA	IEA							OMIM:612391	HPO:skoehler	20.06.2010
-OMIM:612391	HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY,					HP:0000824	Growth hormone deficiency			IEA	IEA							OMIM:612391	HPO:skoehler	19.06.2010
-OMIM:612391	HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY,					HP:0000953	Hyperpigmentation of the skin			IEA	IEA							OMIM:612391	HPO:skoehler	19.06.2010
-OMIM:612391	HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY,					HP:0000969	Edema			IEA	IEA							OMIM:612391	HPO:skoehler	20.06.2010
-OMIM:612391	HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY,					HP:0000998	Hypertrichosis			IEA	IEA							OMIM:612391	HPO:skoehler	20.06.2010
-OMIM:612391	HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY,					HP:0001629	Ventricular septal defect			IEA	IEA							OMIM:612391	HPO:skoehler	19.06.2010
-OMIM:612391	HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY,					HP:0001631	Defect in the atrial septum			IEA	IEA							OMIM:612391	HPO:skoehler	19.06.2010
-OMIM:612391	HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY,					HP:0001634	Mitral valve prolapse			IEA	IEA	rare						OMIM:612391	HPO:skoehler	20.06.2010
-OMIM:612391	HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY,					HP:0001640	Cardiomegaly			IEA	IEA	rare						OMIM:612391	HPO:skoehler	20.06.2010
-OMIM:612391	HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY,					HP:0001744	Splenomegaly			IEA	IEA							OMIM:612391	HPO:skoehler	19.06.2010
-OMIM:612391	HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY,					HP:0002240	Hepatomegaly			IEA	IEA							OMIM:612391	HPO:skoehler	19.06.2010
-OMIM:612391	HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY,					HP:0004322	Short stature			IEA	IEA							OMIM:612391	HPO:skoehler	19.06.2010
-OMIM:612391	HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY,					HP:0009698	Contractures of the proximal interphalangeal joints of the fingers			IEA	IEA							OMIM:612391	HPO:skoehler	19.06.2010

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612443.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612443.tab	2014-05-24 08:35:40 UTC (rev 5158)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612443.tab	2014-05-24 09:03:10 UTC (rev 5159)
@@ -1,13 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:612443	LEUKODYSTROPHY, DYSMYELINATING, AND SPASTIC PARAPARESIS WITH OR WITHOUT					HP:0000007	Autosomal recessive inheritance			IEA	IEA							OMIM:612443	HPO:skoehler	19.06.2010
-OMIM:612443	LEUKODYSTROPHY, DYSMYELINATING, AND SPASTIC PARAPARESIS WITH OR WITHOUT					HP:0001260	Dysarthria			IEA	IEA							OMIM:612443	HPO:skoehler	19.06.2010
-OMIM:612443	LEUKODYSTROPHY, DYSMYELINATING, AND SPASTIC PARAPARESIS WITH OR WITHOUT					HP:0001268	Mental deterioration			IEA	IEA							OMIM:612443	HPO:skoehler	19.06.2010
-OMIM:612443	LEUKODYSTROPHY, DYSMYELINATING, AND SPASTIC PARAPARESIS WITH OR WITHOUT					HP:0001272	Cerebellar atrophy			IEA	IEA							OMIM:612443	HPO:skoehler	19.06.2010
-OMIM:612443	LEUKODYSTROPHY, DYSMYELINATING, AND SPASTIC PARAPARESIS WITH OR WITHOUT					HP:0001288	Gait disturbance			IEA	IEA							OMIM:612443	HPO:skoehler	19.06.2010
-OMIM:612443	LEUKODYSTROPHY, DYSMYELINATING, AND SPASTIC PARAPARESIS WITH OR WITHOUT					HP:0001310	Dysmetria			IEA	IEA							OMIM:612443	HPO:skoehler	19.06.2010
-OMIM:612443	LEUKODYSTROPHY, DYSMYELINATING, AND SPASTIC PARAPARESIS WITH OR WITHOUT					HP:0001332	Dystonia			IEA	IEA							OMIM:612443	HPO:skoehler	19.06.2010
-OMIM:612443	LEUKODYSTROPHY, DYSMYELINATING, AND SPASTIC PARAPARESIS WITH OR WITHOUT					HP:0002075	Dysdiadochokinesis			IEA	IEA							OMIM:612443	HPO:skoehler	19.06.2010
-OMIM:612443	LEUKODYSTROPHY, DYSMYELINATING, AND SPASTIC PARAPARESIS WITH OR WITHOUT					HP:0002313	Spastic paraparesis			IEA	IEA							OMIM:612443	HPO:skoehler	19.06.2010
-OMIM:612443	LEUKODYSTROPHY, DYSMYELINATING, AND SPASTIC PARAPARESIS WITH OR WITHOUT					HP:0002415	Leukodystrophy			IEA	IEA							OMIM:612443	HPO:skoehler	20.06.2010
-OMIM:612443	LEUKODYSTROPHY, DYSMYELINATING, AND SPASTIC PARAPARESIS WITH OR WITHOUT					HP:0003487	Babinski sign			IEA	IEA							OMIM:612443	HPO:skoehler	19.06.2010
-OMIM:612443	LEUKODYSTROPHY, DYSMYELINATING, AND SPASTIC PARAPARESIS WITH OR WITHOUT					HP:0003812	Phenotypic variability			IEA	IEA							OMIM:612443	HPO:skoehler	19.06.2010

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612652.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612652.tab	2014-05-24 08:35:40 UTC (rev 5158)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612652.tab	2014-05-24 09:03:10 UTC (rev 5159)
@@ -1,17 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:612652	MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH OR					HP:0000007	Autosomal recessive inheritance			IEA	IEA							OMIM:612652	HPO:skoehler	19.06.2010
-OMIM:612652	MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH OR					HP:0000252	Microcephaly			IEA	IEA							OMIM:612652	HPO:skoehler	19.06.2010
-OMIM:612652	MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH OR					HP:0000518	Cataract			IEA	IEA							OMIM:612652	HPO:skoehler	19.06.2010
-OMIM:612652	MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH OR					HP:0000973	Cutis laxa			IEA	IEA							OMIM:612652	HPO:skoehler	19.06.2010
-OMIM:612652	MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH OR					HP:0001249	Intellectual disability			IEA	IEA							OMIM:612652	HPO:skoehler	19.06.2010
-OMIM:612652	MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH OR					HP:0001252	Muscular hypotonia			IEA	IEA							OMIM:612652	HPO:skoehler	19.06.2010
-OMIM:612652	MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH OR					HP:0001347	Hyperreflexia			IEA	IEA							OMIM:612652	HPO:skoehler	19.06.2010
-OMIM:612652	MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH OR					HP:0001373	Joint dislocation			IEA	IEA							OMIM:612652	HPO:skoehler	20.06.2010
-OMIM:612652	MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH OR					HP:0001388	Joint laxity			IEA	IEA							OMIM:612652	HPO:skoehler	19.06.2010
-OMIM:612652	MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH OR					HP:0001508	Failure to thrive			IEA	IEA							OMIM:612652	HPO:skoehler	19.06.2010
-OMIM:612652	MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH OR					HP:0001987	Hyperammonemia			IEA	IEA	rare						OMIM:612652	HPO:skoehler	20.06.2010
-OMIM:612652	MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH OR					HP:0002305	Athetosis			IEA	IEA							OMIM:612652	HPO:skoehler	19.06.2010
-OMIM:612652	MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH OR					HP:0002650	Scoliosis			IEA	IEA							OMIM:612652	HPO:skoehler	20.06.2010
-OMIM:612652	MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH OR					HP:0003693	Distal amyotrophy			IEA	IEA							OMIM:612652	HPO:skoehler	19.06.2010
-OMIM:612652	MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH OR					HP:0004322	Short stature			IEA	IEA							OMIM:612652	HPO:skoehler	19.06.2010
-OMIM:612652	MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH OR					HP:0006957	Loss of ability to walk			IEA	IEA							OMIM:612652	HPO:skoehler	20.06.2010

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613020.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613020.tab	2014-05-24 08:35:40 UTC (rev 5158)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613020.tab	2014-05-24 09:03:10 UTC (rev 5159)
@@ -1,4 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created	
-OMIM:613020	#613020 CATARACT, AGE-RELATED CORTICAL, 2; ARCC2				EPHA2	HP:0100019	Cortical cataract			PCS	PCS							pmid:19649315	HPO:probinson	Jan 9, 2013	
-OMIM:613020	#613020 CATARACT, AGE-RELATED CORTICAL, 2; ARCC2				EPHA2	HP:0000006	Autosomal dominant inheritance			PCS	PCS							pmid:19005574	HPO:probinson	Mar 12, 2013	
-OMIM:613020	#613020 CATARACT, AGE-RELATED CORTICAL, 2; ARCC2				EPHA2	HP:0001115	Posterior polar cataract			PCS	PCS							pmid:19005574	HPO:probinson	Mar 12, 2013	

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613034.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613034.tab	2014-05-24 08:35:40 UTC (rev 5158)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613034.tab	2014-05-24 09:03:10 UTC (rev 5159)
@@ -1,14 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:613034	DURSUN SYNDROME					HP:0000007	Autosomal recessive inheritance			IEA	IEA							OMIM:613034	HPO:skoehler	19.06.2010
-OMIM:613034	DURSUN SYNDROME					HP:0000028	Cryptorchidism			IEA	IEA							OMIM:613034	HPO:skoehler	19.06.2010
-OMIM:613034	DURSUN SYNDROME					HP:0000156	High-arched palate			IEA	IEA							OMIM:613034	HPO:skoehler	19.06.2010
-OMIM:613034	DURSUN SYNDROME					HP:0000431	Broad nasal bridge			IEA	IEA							OMIM:613034	HPO:skoehler	19.06.2010
-OMIM:613034	DURSUN SYNDROME					HP:0000768	Pectus carinatum			IEA	IEA							OMIM:613034	HPO:skoehler	19.06.2010
-OMIM:613034	DURSUN SYNDROME					HP:0000778	Hypoplasia of the thymus			IEA	IEA							OMIM:613034	HPO:skoehler	19.06.2010
-OMIM:613034	DURSUN SYNDROME					HP:0000822	Hypertension			IEA	IEA							OMIM:613034	HPO:skoehler	20.06.2010
-OMIM:613034	DURSUN SYNDROME					HP:0001631	Defect in the atrial septum			IEA	IEA							OMIM:613034	HPO:skoehler	20.06.2010
-OMIM:613034	DURSUN SYNDROME					HP:0001873	Thrombocytopenia			IEA	IEA							OMIM:613034	HPO:skoehler	19.06.2010
-OMIM:613034	DURSUN SYNDROME					HP:0001875	Neutropenia			IEA	IEA							OMIM:613034	HPO:skoehler	19.06.2010
-OMIM:613034	DURSUN SYNDROME					HP:0001882	Leukopenia			IEA	IEA							OMIM:613034	HPO:skoehler	19.06.2010
-OMIM:613034	DURSUN SYNDROME					HP:0001888	Lymphopenia			IEA	IEA							OMIM:613034	HPO:skoehler	19.06.2010
-OMIM:613034	DURSUN SYNDROME					HP:0001903	Anemia			IEA	IEA							OMIM:613034	HPO:skoehler	19.06.2010

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613971.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613971.tab	2014-05-24 08:35:40 UTC (rev 5158)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613971.tab	2014-05-24 09:03:10 UTC (rev 5159)
@@ -1,8 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:613971	#613971 EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS; EPND					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT	OMIM:613971	HPO:skoehler	17.10.2012
-OMIM:613971	#613971 EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS; EPND					HP:0003828	Variable expressivity			IEA	IEA						OMIM-CS:MISCELLANEOUS > VARIABLE SEVERITY	OMIM:613971	HPO:skoehler	17.10.2012
-OMIM:613971	#613971 EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS; EPND					HP:0002373	Febrile seizures			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > FEBRILE SEIZURES	OMIM:613971	HPO:skoehler	17.10.2012
-OMIM:613971	#613971 EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS; EPND					HP:0001249	Intellectual disability			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION	OMIM:613971	HPO:skoehler	17.10.2012
-OMIM:613971	#613971 EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS; EPND					HP:0002123	Generalized myoclonic seizures			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MYOCLONIC SEIZURES	OMIM:613971	HPO:skoehler	17.10.2012
-OMIM:613971	#613971 EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS; EPND					HP:0001250	Seizures			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES	OMIM:613971	HPO:skoehler	17.10.2012
-OMIM:613971	#613971 EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS; EPND					HP:0000252	Microcephaly			IEA	IEA	rare					OMIM-CS:HEAD AND NECK_HEAD > MICROCEPHALY (1 PATIENT)	OMIM:613971	HPO:skoehler	18.11.2012

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614421.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614421.tab	2014-05-24 08:35:40 UTC (rev 5158)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614421.tab	2014-05-24 09:03:10 UTC (rev 5159)
@@ -1,21 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created	
-OMIM:614421	#614421 WEAVER SYNDROME 2; WVS2					HP:0001537	Umbilical hernia			IEA	IEA						OMIM-CS:ABDOMEN_EXTERNAL FEATURES > UMBILICAL HERNIA	OMIM:614421	HPO:skoehler	Oct 17, 2012	
-OMIM:614421	#614421 WEAVER SYNDROME 2; WVS2					HP:0000400	Macrotia			IEA	IEA						OMIM-CS:HEAD AND NECK_EARS > LARGE EARS	OMIM:614421	HPO:skoehler	Oct 17, 2012	
-OMIM:614421	#614421 WEAVER SYNDROME 2; WVS2					HP:0000494	Downslanted palpebral fissures			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > DOWNSLANTED PALPEBRAL FISSURES	OMIM:614421	HPO:skoehler	Oct 17, 2012	
-OMIM:614421	#614421 WEAVER SYNDROME 2; WVS2					HP:0000316	Hypertelorism			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > HYPERTELORISM	OMIM:614421	HPO:skoehler	Oct 17, 2012	
...
 
[truncated message content]

[Obo-svn-commit] SF.net SVN: obo:[5158] phenotype-commons/annotations/OMIM/by-disease/ annotated

[<pr...@us...>]

Revision: 5158
          http://sourceforge.net/p/obo/svn/5158
Author:   probins
Date:     2014-05-24 08:35:40 +0000 (Sat, 24 May 2014)
Log Message:
-----------
Removing some MOVED entries and revising some annotations of corresponding correct entries

Modified Paths:
--------------
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-133200.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-138500.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-150800.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-163200.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-194190.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-214400.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-246560.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-273395.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-304500.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601777.tab

Removed Paths:
-------------
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-258920.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-262350.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-263510.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-263530.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-263560.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-272550.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-278810.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300240.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300250.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300290.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-301090.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-302300.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-304000.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-304590.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-305300.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-306100.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-306970.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-309700.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-312860.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-315000.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600095.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600256.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601085.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601222.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601251.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601286.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601359.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601378.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601451.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602036.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602084.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-605839.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606858.tab

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-133200.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-133200.tab	2014-05-24 07:39:14 UTC (rev 5157)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-133200.tab	2014-05-24 08:35:40 UTC (rev 5158)
@@ -1,7 +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
-OMIM:133200	ERYTHROKERATODERMIA VARIABILIS					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:133200	HPO	17.02.2009
-OMIM:133200	ERYTHROKERATODERMIA VARIABILIS					HP:0003593	Infantile onset			IEA	IEA							OMIM:133200	HPO	17.02.2009
-OMIM:133200	ERYTHROKERATODERMIA VARIABILIS					HP:0005588	Palmoplantar keratoderma, patchy			IEA	IEA							OMIM:133200	HPO	17.02.2009
-OMIM:133200	ERYTHROKERATODERMIA VARIABILIS					HP:0005595	Generalized hyperkeratosis			IEA	IEA							OMIM:133200	HPO	17.02.2009
-OMIM:133200	ERYTHROKERATODERMIA VARIABILIS					HP:0010783	Erythema			IEA	IEA							OMIM:133200	HPO:skoehler	20.06.2010
-OMIM:133200	#133200 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA; EKVP;;ERYTHROKERATODERMIA VARIABILIS; EKV;;ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC; PSEK;;ERYTHROKERATODERMIA FIGURATA, CONGENITAL FAMILIAL, IN PLAQUES;;ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENSGREITHER DISEASE, INCLUDED;;KERATOSIS PALMOPLANTARIS TRANSGREDIENS ET PROGREDIENS, INCLUDED					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE	OMIM:133200	HPO:skoehler	17.10.2012
+Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created	
+OMIM:133200	ERYTHROKERATODERMIA VARIABILIS					HP:0000006	Autosomal dominant inheritance			TAS	TAS							OMIM:133200	HPO	Feb 17, 2009	
+OMIM:133200	ERYTHROKERATODERMIA VARIABILIS					HP:0003593	Infantile onset			TAS	TAS							OMIM:133200	HPO	Feb 17, 2009	
+OMIM:133200	ERYTHROKERATODERMIA VARIABILIS					HP:0005588	Patchy palmoplantar keratoderma			TAS	TAS							OMIM:133200	HPO	Feb 17, 2009	
+OMIM:133200	ERYTHROKERATODERMIA VARIABILIS					HP:0005595	Generalized hyperkeratosis			TAS	TAS							OMIM:133200	HPO	Feb 17, 2009	
+OMIM:133200	ERYTHROKERATODERMIA VARIABILIS					HP:0010783	Erythema			TAS	TAS							OMIM:133200	HPO:skoehler	Jun 20, 2010	
+OMIM:133200	#133200 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA; EKVP;;ERYTHROKERATODERMIA VARIABILIS; EKV;;ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC; PSEK;;ERYTHROKERATODERMIA FIGURATA, CONGENITAL FAMILIAL, IN PLAQUES;;ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENSGREITHER DISEASE, INCLUDED;;KERATOSIS PALMOPLANTARIS TRANSGREDIENS ET PROGREDIENS, INCLUDED					HP:0000007	Autosomal recessive inheritance			TAS	TAS						OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE	OMIM:133200	HPO:skoehler	Oct 17, 2012	

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-138500.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-138500.tab	2014-05-24 07:39:14 UTC (rev 5157)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-138500.tab	2014-05-24 08:35:40 UTC (rev 5158)
@@ -1,4 +1,4 @@
 Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created	
 OMIM:138500	GLYCINURIA WITH OR WITHOUT OXALATE UROLITHIASIS					HP:0000006	Autosomal dominant inheritance			TAS	TAS							OMIM:138500	HPO:probinson	Feb 17, 2009	
 OMIM:138500	GLYCINURIA WITH OR WITHOUT OXALATE UROLITHIASIS					HP:0003108	Hyperglycinuria			TAS	TAS							OMIM:138500	HPO:probinson	Feb 17, 2009	
-OMIM:138500	GLYCINURIA WITH OR WITHOUT OXALATE UROLITHIASIS					HP:0008725	Oxalate nephrolithiasis			TAS	TAS							OMIM:138500	HPO:probinson	Mar 13, 2013	
+OMIM:138500	GLYCINURIA WITH OR WITHOUT OXALATE UROLITHIASIS					HP:0008672	Calcium oxalate nephrolithiasis			TAS	TAS							OMIM:138500	HPO:probinson	May 24, 2014	

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-150800.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-150800.tab	2014-05-24 07:39:14 UTC (rev 5157)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-150800.tab	2014-05-24 08:35:40 UTC (rev 5158)
@@ -1,11 +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
-OMIM:150800	LEIOMYOMA, HEREDITARY MULTIPLE, OF SKIN					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:150800	HPO	17.02.2009
-OMIM:150800	LEIOMYOMA, HEREDITARY MULTIPLE, OF SKIN					HP:0000131	Uterine leiomyoma			IEA	IEA							OMIM:150800	HPO	17.02.2009
-OMIM:150800	LEIOMYOMA, HEREDITARY MULTIPLE, OF SKIN					HP:0002891	Uterine leiomyosarcoma			IEA	IEA							OMIM:150800	HPO	17.02.2009
-OMIM:150800	LEIOMYOMA, HEREDITARY MULTIPLE, OF SKIN					HP:0003536	Decreased fumarate hydratase activity			IEA	IEA							OMIM:150800	HPO	17.02.2009
-OMIM:150800	LEIOMYOMA, HEREDITARY MULTIPLE, OF SKIN					HP:0007437	Multiple cutaneous leiomyomas			IEA	IEA							OMIM:150800	HPO	17.02.2009
-OMIM:150800	LEIOMYOMA, HEREDITARY MULTIPLE, OF SKIN					HP:0007620	Cutaneous leiomyoma			IEA	IEA							OMIM:150800	HPO:skoehler	20.06.2010
-OMIM:150800	#150800 HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC;;MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENALCELL CARCINOMA; MCUL1;;LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY; LRCC;;LEIOMYOMA, MULTIPLE CUTANEOUS; MCL					HP:0003812	Phenotypic variability			IEA	IEA						OMIM-CS:MISCELLANEOUS > HIGHLY VARIABLE PHENOTYPE	OMIM:150800	HPO:skoehler	17.10.2012
-OMIM:150800	#150800 HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC;;MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENALCELL CARCINOMA; MCUL1;;LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY; LRCC;;LEIOMYOMA, MULTIPLE CUTANEOUS; MCL					HP:0003829	Incomplete penetrance			IEA	IEA						OMIM-CS:MISCELLANEOUS > INCOMPLETE PENETRANCE	OMIM:150800	HPO:skoehler	17.10.2012
-OMIM:150800	#150800 HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC;;MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENALCELL CARCINOMA; MCUL1;;LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY; LRCC;;LEIOMYOMA, MULTIPLE CUTANEOUS; MCL					HP:0006755	Cutaneous leiomyosarcoma			IEA	IEA	rare					OMIM-CS:NEOPLASIA > CUTANEOUS LEIOMYOSARCOMA (LESS COMMON)	OMIM:150800	HPO:skoehler	18.11.2012
-OMIM:150800	#150800 HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC;;MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENALCELL CARCINOMA; MCUL1;;LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY; LRCC;;LEIOMYOMA, MULTIPLE CUTANEOUS; MCL					HP:0006755	Cutaneous leiomyosarcoma			IEA	IEA	rare					OMIM-CS:SKIN, NAILS, HAIR_SKIN > CUTANEOUS LEIOMYOSARCOMA (RARE)	OMIM:150800	HPO:skoehler	18.11.2012
+Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created	
+OMIM:150800	LEIOMYOMA, HEREDITARY MULTIPLE, OF SKIN					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:150800	HPO	Feb 17, 2009	
+OMIM:150800	LEIOMYOMA, HEREDITARY MULTIPLE, OF SKIN					HP:0000131	Uterine leiomyoma			IEA	IEA							OMIM:150800	HPO	Feb 17, 2009	
+OMIM:150800	LEIOMYOMA, HEREDITARY MULTIPLE, OF SKIN					HP:0002891	Uterine leiomyosarcoma			IEA	IEA							OMIM:150800	HPO	Feb 17, 2009	
+OMIM:150800	LEIOMYOMA, HEREDITARY MULTIPLE, OF SKIN					HP:0003536	Decreased fumarate hydratase activity			IEA	IEA							OMIM:150800	HPO	Feb 17, 2009	
+OMIM:150800	LEIOMYOMA, HEREDITARY MULTIPLE, OF SKIN					HP:0007437	Multiple cutaneous leiomyomas			IEA	IEA							OMIM:150800	HPO	Feb 17, 2009	
+OMIM:150800	LEIOMYOMA, HEREDITARY MULTIPLE, OF SKIN					HP:0007620	Cutaneous leiomyoma			IEA	IEA							OMIM:150800	HPO:skoehler	Jun 20, 2010	
+OMIM:150800	#150800 HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC;;MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENALCELL CARCINOMA; MCUL1;;LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY; LRCC;;LEIOMYOMA, MULTIPLE CUTANEOUS; MCL					HP:0003812	Phenotypic variability			IEA	IEA						OMIM-CS:MISCELLANEOUS > HIGHLY VARIABLE PHENOTYPE	OMIM:150800	HPO:skoehler	Oct 17, 2012	
+OMIM:150800	#150800 HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC;;MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENALCELL CARCINOMA; MCUL1;;LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY; LRCC;;LEIOMYOMA, MULTIPLE CUTANEOUS; MCL					HP:0003829	Incomplete penetrance			IEA	IEA						OMIM-CS:MISCELLANEOUS > INCOMPLETE PENETRANCE	OMIM:150800	HPO:skoehler	Oct 17, 2012	
+OMIM:150800	#150800 HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC;;MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENALCELL CARCINOMA; MCUL1;;LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY; LRCC;;LEIOMYOMA, MULTIPLE CUTANEOUS; MCL					HP:0006755	Cutaneous leiomyosarcoma			IEA	IEA	rare					OMIM-CS:NEOPLASIA > CUTANEOUS LEIOMYOSARCOMA (LESS COMMON)	OMIM:150800	HPO:skoehler	Nov 18, 2012	

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-163200.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-163200.tab	2014-05-24 07:39:14 UTC (rev 5157)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-163200.tab	2014-05-24 08:35:40 UTC (rev 5158)
@@ -2,31 +2,31 @@
 OMIM:163200	SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME					HP:0000085	Horseshoe kidney			IEA	IEA							OMIM:163200	HPO	Feb 17, 2009	
 OMIM:163200	SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME					HP:0000267	Cranial asymmetry			IEA	IEA							OMIM:163200	HPO	Feb 17, 2009	
 OMIM:163200	SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME					HP:0000589	Coloboma			IEA	IEA							OMIM:163200	HPO:skoehler	Jun 20, 2010	
-OMIM:163200	SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME					HP:0000818	Abnormality of the endocrine system			IEA	IEA							OMIM:163200	HPO	Feb 17, 2009	
 OMIM:163200	SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME					HP:0001010	Hypopigmentation of the skin			IEA	IEA							OMIM:163200	HPO	Feb 17, 2009	
 OMIM:163200	SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME					HP:0001028	Hemangioma			IEA	IEA							OMIM:163200	HPO	Feb 17, 2009	
-OMIM:163200	SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME					HP:0001155	Abnormality of the hand			IEA	IEA							OMIM:163200	HPO	Feb 17, 2009	
 OMIM:163200	SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME					HP:0001249	Intellectual disability			IEA	IEA							OMIM:163200	HPO	Feb 17, 2009	
 OMIM:163200	SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME					HP:0001250	Seizures			IEA	IEA							OMIM:163200	HPO	Feb 17, 2009	
 OMIM:163200	SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME					HP:0001420	Isolated cases			IEA	IEA							OMIM:163200	HPO	Feb 17, 2009	
 OMIM:163200	SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME					HP:0001548	Overgrowth			IEA	IEA							OMIM:163200	HPO:skoehler	Jun 20, 2010	
 OMIM:163200	SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME					HP:0001680	Coarctation of aorta			IEA	IEA							OMIM:163200	HPO	Feb 17, 2009	
-OMIM:163200	SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME					HP:0001760	Abnormality of the foot			IEA	IEA							OMIM:163200	HPO	Feb 17, 2009	
 OMIM:163200	SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME					HP:0002671	Basal cell carcinoma			IEA	IEA							OMIM:163200	HPO	Feb 17, 2009	
-OMIM:163200	SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME					HP:0002748	Rickets			IEA	IEA							OMIM:163200	HPO:skoehler	Jun 20, 2010	
+OMIM:163200	SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME					HP:0004912	Hypophosphatemic rickets			TAS	TAS							OMIM:163200	HPO:skoehler	Jun 20, 2010	
 OMIM:163200	SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME					HP:0002751	Kyphoscoliosis			IEA	IEA							OMIM:163200	HPO	Feb 17, 2009	
 OMIM:163200	SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME					HP:0006482	Abnormality of dental morphology			IEA	IEA							OMIM:163200	HPO:skoehler	Jun 20, 2010	
-OMIM:163200	SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME					HP:0008064	Ichthyosiform abnormality of the skin			IEA	IEA							OMIM:163200	HPO:skoehler	Jun 20, 2010	
+OMIM:163200	SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME					HP:0008064	Ichthyosis			IEA	IEA							OMIM:163200	HPO:skoehler	Jun 20, 2010	
 OMIM:163200	#163200 SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME; SFM;;SFM SYNDROME;;LINEAR SEBACEOUS NEVUS SYNDROME;;SEBACEOUS NEVUS SYNDROME, LINEAR;;JADASSOHN NEVUS PHAKOMATOSIS; JNP;;NEVUS SEBACEUS OF JADASSOHN;;ORGANOID NEVUS PHAKOMATOSIS;;EPIDERMAL NEVUS SYNDROME, FORMERLY					HP:0004322	Short stature			IEA	IEA						OMIM-CS:GROWTH_HEIGHT > SHORT STATURE	OMIM:163200	HPO:skoehler	Oct 17, 2012	
 OMIM:163200	#163200 SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME; SFM;;SFM SYNDROME;;LINEAR SEBACEOUS NEVUS SYNDROME;;SEBACEOUS NEVUS SYNDROME, LINEAR;;JADASSOHN NEVUS PHAKOMATOSIS; JNP;;NEVUS SEBACEUS OF JADASSOHN;;ORGANOID NEVUS PHAKOMATOSIS;;EPIDERMAL NEVUS SYNDROME, FORMERLY					HP:0001510	Growth delay			IEA	IEA						OMIM-CS:GROWTH_OTHER > GROWTH RETARDATION	OMIM:163200	HPO:skoehler	Oct 17, 2012	
 OMIM:163200	#163200 SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME; SFM;;SFM SYNDROME;;LINEAR SEBACEOUS NEVUS SYNDROME;;SEBACEOUS NEVUS SYNDROME, LINEAR;;JADASSOHN NEVUS PHAKOMATOSIS; JNP;;NEVUS SEBACEUS OF JADASSOHN;;ORGANOID NEVUS PHAKOMATOSIS;;EPIDERMAL NEVUS SYNDROME, FORMERLY					HP:0001442	Somatic mosaicism			IEA	IEA						OMIM-CS:INHERITANCE > SOMATIC MOSAICISM	OMIM:163200	HPO:skoehler	Oct 17, 2012	
 OMIM:163200	#163200 SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME; SFM;;SFM SYNDROME;;LINEAR SEBACEOUS NEVUS SYNDROME;;SEBACEOUS NEVUS SYNDROME, LINEAR;;JADASSOHN NEVUS PHAKOMATOSIS; JNP;;NEVUS SEBACEUS OF JADASSOHN;;ORGANOID NEVUS PHAKOMATOSIS;;EPIDERMAL NEVUS SYNDROME, FORMERLY					HP:0007206	Hemimegalencephaly			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HEMIMEGALENCEPHALY	OMIM:163200	HPO:skoehler	Oct 17, 2012	
 OMIM:163200	#163200 SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME; SFM;;SFM SYNDROME;;LINEAR SEBACEOUS NEVUS SYNDROME;;SEBACEOUS NEVUS SYNDROME, LINEAR;;JADASSOHN NEVUS PHAKOMATOSIS; JNP;;NEVUS SEBACEUS OF JADASSOHN;;ORGANOID NEVUS PHAKOMATOSIS;;EPIDERMAL NEVUS SYNDROME, FORMERLY					HP:0000938	Osteopenia			IEA	IEA						OMIM-CS:SKELETAL > OSTEOPENIA	OMIM:163200	HPO:skoehler	Oct 17, 2012	
 OMIM:163200	#163200 SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME; SFM;;SFM SYNDROME;;LINEAR SEBACEOUS NEVUS SYNDROME;;SEBACEOUS NEVUS SYNDROME, LINEAR;;JADASSOHN NEVUS PHAKOMATOSIS; JNP;;NEVUS SEBACEUS OF JADASSOHN;;ORGANOID NEVUS PHAKOMATOSIS;;EPIDERMAL NEVUS SYNDROME, FORMERLY					HP:0002757	Recurrent fractures			IEA	IEA						OMIM-CS:SKELETAL > RECURRENT FRACTURES	OMIM:163200	HPO:skoehler	Oct 17, 2012	
-OMIM:163200	#163200 SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME; SFM;;SFM SYNDROME;;LINEAR SEBACEOUS NEVUS SYNDROME;;SEBACEOUS NEVUS SYNDROME, LINEAR;;JADASSOHN NEVUS PHAKOMATOSIS; JNP;;NEVUS SEBACEUS OF JADASSOHN;;ORGANOID NEVUS PHAKOMATOSIS;;EPIDERMAL NEVUS SYNDROME, FORMERLY					HP:0000826	Precocious puberty			IEA	IEA	rare					OMIM-CS:ENDOCRINE FEATURES > PRECOCIOUS PUBERTY (LESS COMMON)	OMIM:163200	HPO:skoehler	Nov 18, 2012	
-OMIM:163200	#163200 SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME; SFM;;SFM SYNDROME;;LINEAR SEBACEOUS NEVUS SYNDROME;;SEBACEOUS NEVUS SYNDROME, LINEAR;;JADASSOHN NEVUS PHAKOMATOSIS; JNP;;NEVUS SEBACEUS OF JADASSOHN;;ORGANOID NEVUS PHAKOMATOSIS;;EPIDERMAL NEVUS SYNDROME, FORMERLY					HP:0007957	Reduction of corneal clarity			IEA	IEA	rare					OMIM-CS:HEAD AND NECK_EYES > CORNEAL CLOUDING (IN SOME)	OMIM:163200	HPO:skoehler	Nov 18, 2012	
+OMIM:163200	#163200 SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME; SFM;;SFM SYNDROME;;LINEAR SEBACEOUS NEVUS SYNDROME;;SEBACEOUS NEVUS SYNDROME, LINEAR;;JADASSOHN NEVUS PHAKOMATOSIS; JNP;;NEVUS SEBACEUS OF JADASSOHN;;ORGANOID NEVUS PHAKOMATOSIS;;EPIDERMAL NEVUS SYNDROME, FORMERLY					HP:0000826	Precocious puberty			TAS	TAS	rare					OMIM-CS:ENDOCRINE FEATURES > PRECOCIOUS PUBERTY (LESS COMMON)	OMIM:163200	HPO:skoehler	Nov 18, 2012	
+OMIM:163200	#163200 SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME; SFM;;SFM SYNDROME;;LINEAR SEBACEOUS NEVUS SYNDROME;;SEBACEOUS NEVUS SYNDROME, LINEAR;;JADASSOHN NEVUS PHAKOMATOSIS; JNP;;NEVUS SEBACEUS OF JADASSOHN;;ORGANOID NEVUS PHAKOMATOSIS;;EPIDERMAL NEVUS SYNDROME, FORMERLY					HP:0007957	Corneal opacity			IEA	IEA	rare					OMIM-CS:HEAD AND NECK_EYES > CORNEAL CLOUDING (IN SOME)	OMIM:163200	HPO:skoehler	Nov 18, 2012	
 OMIM:163200	#163200 SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME; SFM;;SFM SYNDROME;;LINEAR SEBACEOUS NEVUS SYNDROME;;SEBACEOUS NEVUS SYNDROME, LINEAR;;JADASSOHN NEVUS PHAKOMATOSIS; JNP;;NEVUS SEBACEUS OF JADASSOHN;;ORGANOID NEVUS PHAKOMATOSIS;;EPIDERMAL NEVUS SYNDROME, FORMERLY					HP:0000602	Ophthalmoplegia			IEA	IEA	rare					OMIM-CS:HEAD AND NECK_EYES > OPHTHALMOPLEGIA (IN SOME)	OMIM:163200	HPO:skoehler	Nov 18, 2012	
 OMIM:163200	#163200 SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME; SFM;;SFM SYNDROME;;LINEAR SEBACEOUS NEVUS SYNDROME;;SEBACEOUS NEVUS SYNDROME, LINEAR;;JADASSOHN NEVUS PHAKOMATOSIS; JNP;;NEVUS SEBACEUS OF JADASSOHN;;ORGANOID NEVUS PHAKOMATOSIS;;EPIDERMAL NEVUS SYNDROME, FORMERLY					HP:0003109	Hyperphosphaturia			IEA	IEA	rare					OMIM-CS:LABORATORY ABNORMALITIES > PHOSPHATURIA (IN SOME)	OMIM:163200	HPO:skoehler	Nov 18, 2012	
 OMIM:163200	#163200 SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME; SFM;;SFM SYNDROME;;LINEAR SEBACEOUS NEVUS SYNDROME;;SEBACEOUS NEVUS SYNDROME, LINEAR;;JADASSOHN NEVUS PHAKOMATOSIS; JNP;;NEVUS SEBACEUS OF JADASSOHN;;ORGANOID NEVUS PHAKOMATOSIS;;EPIDERMAL NEVUS SYNDROME, FORMERLY					HP:0001596	Alopecia			IEA	IEA						OMIM-CS:SKIN, NAILS, HAIR_HAIR > ALOPECIA WITHIN LESION	OMIM:163200	HPO:skoehler	Nov 21, 2012	
 OMIM:163200	#163200 SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME; SFM;;SFM SYNDROME;;LINEAR SEBACEOUS NEVUS SYNDROME;;SEBACEOUS NEVUS SYNDROME, LINEAR;;JADASSOHN NEVUS PHAKOMATOSIS; JNP;;NEVUS SEBACEUS OF JADASSOHN;;ORGANOID NEVUS PHAKOMATOSIS;;EPIDERMAL NEVUS SYNDROME, FORMERLY					HP:0010815	Nevus sebaceous			IEA	IEA						OMIM-CS:SKIN, NAILS, HAIR_SKIN > LINEAR NEVUS SEBACEOUS, OFTEN IN MIDFACIAL AREA	OMIM:163200	HPO:skoehler	Nov 21, 2012	
 OMIM:163200	#163200 SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME; SFM;;SFM SYNDROME;;LINEAR SEBACEOUS NEVUS SYNDROME;;SEBACEOUS NEVUS SYNDROME, LINEAR;;JADASSOHN NEVUS PHAKOMATOSIS; JNP;;NEVUS SEBACEUS OF JADASSOHN;;ORGANOID NEVUS PHAKOMATOSIS;;EPIDERMAL NEVUS SYNDROME, FORMERLY					HP:0003764	Nevus			IEA	IEA						OMIM-CS:SKIN, NAILS, HAIR_SKIN > NEVUS UNIUS LATERIS	OMIM:163200	HPO:skoehler	Nov 21, 2012	
+OMIM:163200	SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME					HP:0011073	Abnormality of dental color			TAS	TAS							OMIM:163200	HPO:skoehler	May 24, 2014	
+OMIM:163200	SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME					HP:0001780	Abnormality of toe			TAS	TAS							OMIM:163200	HPO:probinson	May 24, 2014	
+OMIM:163200	SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME					HP:0001167	Abnormality of finger			TAS	TAS							OMIM:163200	HPO:probinson	May 24, 2014	

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-194190.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-194190.tab	2014-05-24 07:39:14 UTC (rev 5157)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-194190.tab	2014-05-24 08:35:40 UTC (rev 5158)
@@ -1,97 +1,95 @@
 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:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000047	Hypospadias			TAS	TAS	50%						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000151	Aplasia of the uterus			TAS	TAS	rare						MIM:194190	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000202	Oral cleft			TAS	TAS	frequent						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000188	Short upper lip			TAS	TAS	typical						MIM:194190	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000210	null			TAS	TAS	typical						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000238	Hydrocephalus			TAS	TAS	rare						MIM:194190	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000252	Microcephaly			TAS	TAS	typical						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0004484	Craniofacial asymmetry			TAS	TAS	typical						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000286	Epicanthus			TAS	TAS	typical						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000316	Hypertelorism			TAS	TAS	typical						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000322	Short philtrum			TAS	TAS	typical						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000348	High forehead			TAS	TAS	typical						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000405	Conductive hearing impairment			TAS	TAS	40%						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000384	Preauricular skin tag			TAS	TAS	typical						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000402	Stenosis of the external auditory canal			TAS	TAS	typical						ISBN-13:978-3-7945-2657-4; MIM:194190	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000431	Wide nasal bridge			TAS	TAS	typical						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000444	Convex nasal ridge			TAS	TAS	typical						ISBN-13:978-3-7945-2657-4; MIM:194190	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000465	Webbed neck			TAS	TAS	rare						MIM:194190	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000486	Strabismus			TAS	TAS	typical						ISBN-13:978-3-7945-2657-4; MIM:194190	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000508	Ptosis			TAS	TAS	common						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000558	Rieger anomaly			TAS	TAS	typical						ISBN-13:978-3-7945-2657-4; MIM:194190	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000612	Iris coloboma			TAS	TAS	30%						ISBN-13:978-3-7945-2657-4	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000639	Nystagmus			TAS	TAS	typical						ISBN-13:978-3-7945-2657-4; MIM:194190	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000668	Hypodontia			TAS	TAS	typical						ISBN-13:978-3-7945-2657-4; MIM:194190	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000902	Rib fusion			TAS	TAS	frequent						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000954	Single transverse palmar crease			TAS	TAS	rare						MIM:194190	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000960	Sacral dimple			TAS	TAS	rare						MIM:194190	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001080	Biliary tract abnormality			TAS	TAS	rare						MIM:194190	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001250	Seizures			TAS	TAS	common						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001331	Absent septum pellucidum			TAS	TAS							MIM:194190	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001508	Failure to thrive			TAS	TAS	common						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs; ISBN-13:978-3-7945-2657-4	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001518	Small for gestational age			TAS	TAS	hallmark						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001521	Severe growth retardation			TAS	TAS	common						ISBN-13:978-3-7945-2657-4	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001559	Decreased fetal activity			TAS	TAS							MIM:194190	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001584	Highly arched eyebrows			TAS	TAS	typical						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001629	Ventricular septal defect			TAS	TAS							MIM:194190	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001747	Accessory spleen			TAS	TAS							MIM:194190	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001812	Hyperconvex fingernails			TAS	TAS							MIM:194190	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001841	Preaxial polydactyly of foot			TAS	TAS	occasional						ISBN-13:978-3-7945-2657-4	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0002020	Gastroesophageal reflux			TAS	TAS							MIM:194190	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0002162	Low posterior hairline			TAS	TAS							MIM:194190	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0002389	Cavum septum pellucidum			TAS	TAS							MIM:194190	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0002650	Scoliosis			TAS	TAS	frequent						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0002714	Downturned corners of mouth			TAS	TAS	typical						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0002750	Delayed skeletal maturation			TAS	TAS							MIM:194190	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0002808	Kyphosis			TAS	TAS	frequent						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001385	Hip dysplasia			TAS	TAS	occasional						ISBN-13:978-3-7945-2657-4	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0002948	Vertebral fusion			TAS	TAS							MIM:194190	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0004467	Preauricular pit			TAS	TAS	typical						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0004794	Malrotation of small bowel			TAS	TAS							MIM:194190	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0006091	Accessory proximal metacarpal ossification centers			TAS	TAS							MIM:194190	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0006624	Sternal ossification center abnormalities			TAS	TAS							MIM:194190	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001263	Global developmental delay			TAS	TAS	hallmark						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	17.02.2009	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0002057	Prominent glabella			TAS	TAS	typical						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	10.09.2010	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001514	Postnatal growth retardation			TAS	TAS	hallmark						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs; ISBN-13:978-3-7945-2657-4	HPO	10.09.2010	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001511	Intrauterine growth retardation			TAS	TAS	hallmark						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs; ISBN-13:978-3-7945-2657-4	HPO	10.09.2010	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001290	Generalized hypotonia			TAS	TAS	hallmark						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	10.09.2010	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0003199	Decreased muscle mass			TAS	TAS	hallmark						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	10.09.2010	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0002353	EEG abnormality			TAS	TAS	90%						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	10.09.2010	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000164	Abnormality of the teeth			TAS	TAS	typical						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	10.09.2010	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0002564	Malformation of the heart and great vessels			TAS	TAS	frequent						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	10.09.2010	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0008713	Genitourinary tract malformation			TAS	TAS	25%						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	10.09.2010	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0008758	Stereotypical motor behaviors			TAS	TAS	frequent						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	10.09.2010	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001509	Short stature			TAS	TAS	common						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs; ISBN-13:978-3-7945-2657-4	HPO	10.09.2010	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0003312	Abnormal form of the vertebral bodies			TAS	TAS	frequent						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	10.09.2010	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0006655	Rib segmentation abnormalities			TAS	TAS	frequent						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	10.09.2010	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001762	Talipes equinovarus			TAS	TAS	frequent						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	10.09.2010	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001171	Ectrodactyly (hands)			TAS	TAS	occasional						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	10.09.2010	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001631	Defect in the atrial septum			TAS	TAS	27%						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	10.09.2010	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0002721	Immunodeficiency			TAS	TAS	69%						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	10.09.2010	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000407	Sensorineural hearing impairment			TAS	TAS	15%						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	10.09.2010	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000028	Cryptorchidism			TAS	TAS	50%						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	10.09.2010	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0007319	Morphological abnormality of the central nervous system			TAS	TAS	33%						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	10.09.2010	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0008562	Poorly formed pinnae			TAS	TAS	typical						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	10.09.2010	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0003745	Sporadic			TAS	TAS							MIM:194190	HPO	10.09.2010	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000006	Autosomal dominant inheritance			TAS	TAS							MIM:194190	HPO	10.09.2010	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001028	Hemangioma			TAS	TAS	frequent						ISBN-13:978-3-7945-2657-4; MIM:194190	HPO	10.09.2010	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000645	null			TAS	TAS	frequent						ISBN-13:978-3-7945-2657-4	HPO	10.09.2010	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000614	Abnormality of the nasolacrimal system			TAS	TAS	occasional						ISBN-13:978-3-7945-2657-4	HPO	10.09.2010	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001177	Preaxial polydactyly (hands)			TAS	TAS	occasional						ISBN-13:978-3-7945-2657-4	HPO	10.09.2010	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0010109	Small hallux			TAS	TAS	occasional						ISBN-13:978-3-7945-2657-4	HPO	10.09.2010	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0009778	Short thumb			TAS	TAS	occasional						ISBN-13:978-3-7945-2657-4	HPO	10.09.2010	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0007385	Aplasia cutis congenita of scalp			TAS	TAS	occasional						ISBN-13:978-3-7945-2657-4; MIM:194190	HPO	10.09.2010	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001274	Agenesis of corpus callosum			TAS	TAS	occasional						ISBN-13:978-3-7945-2657-4	HPO	10.09.2010	
-MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0002750	Delayed skeletal maturation			TAS	TAS							MIM:194190	HPO	22.07.2012	
-OMIM:194190	#194190 WOLF-HIRSCHHORN SYNDROME; WHS;;CHROMOSOME 4p16.3 DELETION SYNDROME;;PITT-ROGERS-DANKS SYNDROME; PRDS;;PITT SYNDROME					HP:0000826	Precocious puberty			IEA	IEA						OMIM-CS:ENDOCRINE FEATURES > PRECOCIOUS PUBERTY	OMIM:194190	HPO:skoehler	17.10.2012
-OMIM:194190	#194190 WOLF-HIRSCHHORN SYNDROME; WHS;;CHROMOSOME 4p16.3 DELETION SYNDROME;;PITT-ROGERS-DANKS SYNDROME; PRDS;;PITT SYNDROME					HP:0009918	Ectopia pupillae			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > CORECTOPIA	OMIM:194190	HPO:skoehler	17.10.2012
-OMIM:194190	#194190 WOLF-HIRSCHHORN SYNDROME; WHS;;CHROMOSOME 4p16.3 DELETION SYNDROME;;PITT-ROGERS-DANKS SYNDROME; PRDS;;PITT SYNDROME					HP:0000204	Cleft upper lip			IEA	IEA						OMIM-CS:HEAD AND NECK_MOUTH > CLEFT LIP	OMIM:194190	HPO:skoehler	17.10.2012
-OMIM:194190	#194190 WOLF-HIRSCHHORN SYNDROME; WHS;;CHROMOSOME 4p16.3 DELETION SYNDROME;;PITT-ROGERS-DANKS SYNDROME; PRDS;;PITT SYNDROME					HP:0000175	Cleft palate			IEA	IEA						OMIM-CS:HEAD AND NECK_MOUTH > CLEFT PALATE	OMIM:194190	HPO:skoehler	17.10.2012
-OMIM:194190	#194190 WOLF-HIRSCHHORN SYNDROME; WHS;;CHROMOSOME 4p16.3 DELETION SYNDROME;;PITT-ROGERS-DANKS SYNDROME; PRDS;;PITT SYNDROME					HP:0002119	Ventriculomegaly			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ENLARGED VENTRICLES	OMIM:194190	HPO:skoehler	17.10.2012
-OMIM:194190	#194190 WOLF-HIRSCHHORN SYNDROME; WHS;;CHROMOSOME 4p16.3 DELETION SYNDROME;;PITT-ROGERS-DANKS SYNDROME; PRDS;;PITT SYNDROME					HP:0007109	Periventricular cysts			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PERIVENTRICULAR CYSTS	OMIM:194190	HPO:skoehler	17.10.2012
-OMIM:194190	#194190 WOLF-HIRSCHHORN SYNDROME; WHS;;CHROMOSOME 4p16.3 DELETION SYNDROME;;PITT-ROGERS-DANKS SYNDROME; PRDS;;PITT SYNDROME					HP:0010864	Intellectual disability, severe			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEVERE MENTAL RETARDATION	OMIM:194190	HPO:skoehler	17.10.2012
-OMIM:194190	#194190 WOLF-HIRSCHHORN SYNDROME; WHS;;CHROMOSOME 4p16.3 DELETION SYNDROME;;PITT-ROGERS-DANKS SYNDROME; PRDS;;PITT SYNDROME					HP:0001840	Metatarsus adductus			IEA	IEA						OMIM-CS:SKELETAL_FEET > METATARSUS ADDUCTUS	OMIM:194190	HPO:skoehler	17.10.2012
-OMIM:194190	#194190 WOLF-HIRSCHHORN SYNDROME; WHS;;CHROMOSOME 4p16.3 DELETION SYNDROME;;PITT-ROGERS-DANKS SYNDROME; PRDS;;PITT SYNDROME					HP:0002974	Radioulnar synostosis			IEA	IEA						OMIM-CS:SKELETAL_LIMBS > RADIOULNAR SYNOSTOSIS	OMIM:194190	HPO:skoehler	17.10.2012
-OMIM:194190	#194190 WOLF-HIRSCHHORN SYNDROME; WHS;;CHROMOSOME 4p16.3 DELETION SYNDROME;;PITT-ROGERS-DANKS SYNDROME; PRDS;;PITT SYNDROME					HP:0002827	Hip dislocation			IEA	IEA						OMIM-CS:SKELETAL_PELVIS > HIP DISLOCATION	OMIM:194190	HPO:skoehler	17.10.2012
-OMIM:194190	#194190 WOLF-HIRSCHHORN SYNDROME; WHS;;CHROMOSOME 4p16.3 DELETION SYNDROME;;PITT-ROGERS-DANKS SYNDROME; PRDS;;PITT SYNDROME					HP:0002144	Tethered cord			IEA	IEA	rare					OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > TETHERED CORD (UNCOMMON)	OMIM:194190	HPO:skoehler	18.11.2012
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000047	Hypospadias			TAS	TAS	50%						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000151	Aplasia of the uterus			TAS	TAS	rare						MIM:194190	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000202	Oral cleft			TAS	TAS	frequent						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000188	Short upper lip			TAS	TAS	typical						MIM:194190	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000210	null			TAS	TAS	typical						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000238	Hydrocephalus			TAS	TAS	rare						MIM:194190	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000252	Microcephaly			TAS	TAS	typical						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0004484	Craniofacial asymmetry			TAS	TAS	typical						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000286	Epicanthus			TAS	TAS	typical						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000316	Hypertelorism			TAS	TAS	typical						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000322	Short philtrum			TAS	TAS	typical						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000348	High forehead			TAS	TAS	typical						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000405	Conductive hearing impairment			TAS	TAS	40%						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000384	Preauricular skin tag			TAS	TAS	typical						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000402	Stenosis of the external auditory canal			TAS	TAS	typical						ISBN-13:978-3-7945-2657-4; MIM:194190	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000431	Wide nasal bridge			TAS	TAS	typical						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000444	Convex nasal ridge			TAS	TAS	typical						ISBN-13:978-3-7945-2657-4; MIM:194190	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000465	Webbed neck			TAS	TAS	rare						MIM:194190	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000486	Strabismus			TAS	TAS	typical						ISBN-13:978-3-7945-2657-4; MIM:194190	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000508	Ptosis			TAS	TAS	common						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000558	Rieger anomaly			TAS	TAS	typical						ISBN-13:978-3-7945-2657-4; MIM:194190	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000612	Iris coloboma			TAS	TAS	30%						ISBN-13:978-3-7945-2657-4	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000639	Nystagmus			TAS	TAS	typical						ISBN-13:978-3-7945-2657-4; MIM:194190	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000668	Hypodontia			TAS	TAS	typical						ISBN-13:978-3-7945-2657-4; MIM:194190	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000902	Rib fusion			TAS	TAS	frequent						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000954	Single transverse palmar crease			TAS	TAS	rare						MIM:194190	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000960	Sacral dimple			TAS	TAS	rare						MIM:194190	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001080	Biliary tract abnormality			TAS	TAS	rare						MIM:194190	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001250	Seizures			TAS	TAS	common						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001331	Absent septum pellucidum			TAS	TAS							MIM:194190	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001508	Failure to thrive			TAS	TAS	common						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs; ISBN-13:978-3-7945-2657-4	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001518	Small for gestational age			TAS	TAS	hallmark						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001521	Severe growth retardation			TAS	TAS	common						ISBN-13:978-3-7945-2657-4	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001559	Decreased fetal activity			TAS	TAS							MIM:194190	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001584	Highly arched eyebrows			TAS	TAS	typical						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001629	Ventricular septal defect			TAS	TAS							MIM:194190	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001747	Accessory spleen			TAS	TAS							MIM:194190	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001812	Hyperconvex fingernails			TAS	TAS							MIM:194190	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001841	Preaxial foot polydactyly			TAS	TAS	occasional						ISBN-13:978-3-7945-2657-4	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0002020	Gastroesophageal reflux			TAS	TAS							MIM:194190	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0002162	Low posterior hairline			TAS	TAS							MIM:194190	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0002389	Cavum septum pellucidum			TAS	TAS							MIM:194190	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0002650	Scoliosis			TAS	TAS	frequent						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0002714	Downturned corners of mouth			TAS	TAS	typical						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0002750	Delayed skeletal maturation			TAS	TAS							MIM:194190	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0002808	Kyphosis			TAS	TAS	frequent						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001385	Hip dysplasia			TAS	TAS	occasional						ISBN-13:978-3-7945-2657-4	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0002948	Vertebral fusion			TAS	TAS							MIM:194190	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0004467	Preauricular pit			TAS	TAS	typical						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0004794	Malrotation of small bowel			TAS	TAS							MIM:194190	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0006091	Accessory proximal metacarpal ossification centers			TAS	TAS							MIM:194190	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0006624	Sternal ossification center abnormalities			TAS	TAS							MIM:194190	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001263	Global developmental delay			TAS	TAS	hallmark						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	Feb 17, 2009	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0002057	Prominent glabella			TAS	TAS	typical						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	Sep 10, 2010	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001514	Postnatal growth retardation			TAS	TAS	hallmark						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs; ISBN-13:978-3-7945-2657-4	HPO	Sep 10, 2010	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001511	Intrauterine growth retardation			TAS	TAS	hallmark						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs; ISBN-13:978-3-7945-2657-4	HPO	Sep 10, 2010	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001290	Generalized hypotonia			TAS	TAS	hallmark						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	Sep 10, 2010	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0003199	Decreased muscle mass			TAS	TAS	hallmark						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	Sep 10, 2010	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0002353	EEG abnormality			TAS	TAS	90%						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	Sep 10, 2010	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0002564	Malformation of the heart and great vessels			TAS	TAS	frequent						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	Sep 10, 2010	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0008713	Genitourinary tract malformation			TAS	TAS	25%						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	Sep 10, 2010	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0008758	Stereotypical motor behaviors			TAS	TAS	frequent						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	Sep 10, 2010	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001509	Short stature			TAS	TAS	common						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs; ISBN-13:978-3-7945-2657-4	HPO	Sep 10, 2010	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0003312	Abnormal form of the vertebral bodies			TAS	TAS	frequent						pmid:20301362	HPO	Sep 10, 2010	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0006655	Rib segmentation abnormalities			TAS	TAS	frequent						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	Sep 10, 2010	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001762	Talipes equinovarus			TAS	TAS	frequent						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	Sep 10, 2010	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001171	Split hand			TAS	TAS	occasional						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	Sep 10, 2010	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001631	Defect in the atrial septum			TAS	TAS	27%						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	Sep 10, 2010	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0002721	Immunodeficiency			TAS	TAS	69%						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	Sep 10, 2010	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000407	Sensorineural hearing impairment			TAS	TAS	15%						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	Sep 10, 2010	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000028	Cryptorchidism			TAS	TAS	50%						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	Sep 10, 2010	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0007319	Morphological abnormality of the central nervous system			TAS	TAS	33%						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	Sep 10, 2010	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0008562	Poorly formed pinnae			TAS	TAS	typical						http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs	HPO	Sep 10, 2010	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0003745	Sporadic			TAS	TAS							MIM:194190	HPO	Sep 10, 2010	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000006	Autosomal dominant inheritance			TAS	TAS							MIM:194190	HPO	Sep 10, 2010	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001028	Hemangioma			TAS	TAS	frequent						ISBN-13:978-3-7945-2657-4; MIM:194190	HPO	Sep 10, 2010	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0000645	null			TAS	TAS	frequent						ISBN-13:978-3-7945-2657-4	HPO	Sep 10, 2010	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001177	Preaxial hand polydactyly			TAS	TAS	occasional						ISBN-13:978-3-7945-2657-4	HPO	Sep 10, 2010	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0010109	Short hallux			TAS	TAS	occasional						ISBN-13:978-3-7945-2657-4	HPO	Sep 10, 2010	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0009778	Short thumb			TAS	TAS	occasional						ISBN-13:978-3-7945-2657-4	HPO	Sep 10, 2010	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0007385	Aplasia cutis congenita of scalp			TAS	TAS	occasional						ISBN-13:978-3-7945-2657-4; MIM:194190	HPO	Sep 10, 2010	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0001274	Agenesis of corpus callosum			TAS	TAS	occasional						ISBN-13:978-3-7945-2657-4	HPO	Sep 10, 2010	
+MIM:194190	WOLF-HIRSCHHORN SYNDROME	MIM:602952	WHS CANDIDATE 1 GENE	del4p16.3	WHSC1	HP:0002750	Delayed skeletal maturation			TAS	TAS							MIM:194190	HPO	Jul 22, 2012	
+OMIM:194190	#194190 WOLF-HIRSCHHORN SYNDROME; WHS;;CHROMOSOME 4p16.3 DELETION SYNDROME;;PITT-ROGERS-DANKS SYNDROME; PRD...
 
[truncated message content]

[Obo-svn-commit] SF.net SVN: obo:[5157] phenotype-commons/annotations/OMIM/by-disease/ annotated

[<pr...@us...>]

Revision: 5157
          http://sourceforge.net/p/obo/svn/5157
Author:   probins
Date:     2014-05-24 07:39:14 +0000 (Sat, 24 May 2014)
Log Message:
-----------
Removing a lot of MOVED entries and checking annotations

Modified Paths:
--------------
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-106600.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-107000.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-123100.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-128101.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137440.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-144700.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-191100.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-194380.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-220290.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-228600.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-229200.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601376.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601492.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607765.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607903.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611880.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613179.tab

Removed Paths:
-------------
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-163955.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-177720.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-179760.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-179770.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-183000.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-185010.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-188200.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-188600.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-191020.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-191090.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-191091.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-193680.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-194100.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-201460.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-209000.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-210450.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-212110.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-212120.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-212900.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-218500.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-220700.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-224200.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-230710.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-235600.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-236490.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-252200.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-253230.tab

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-106600.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-106600.tab	2014-05-24 06:32:04 UTC (rev 5156)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-106600.tab	2014-05-24 07:39:14 UTC (rev 5157)
@@ -1,3 +1,3 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:106600	TOOTH AGENESIS, SELECTIVE, 1					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:106600	HPO	17.02.2009
-OMIM:106600	TOOTH AGENESIS, SELECTIVE, 1					HP:0000668	Hypodontia			IEA	IEA							OMIM:106600	HPO	17.02.2009
+Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created	
+OMIM:106600	TOOTH AGENESIS, SELECTIVE, 1					HP:0000006	Autosomal dominant inheritance			TAS	TAS							OMIM:106600	HPO:probinson	Feb 17, 2009	
+OMIM:106600	TOOTH AGENESIS, SELECTIVE, 1					HP:0000668	Hypodontia			TAS	TAS							OMIM:106600	HPO:probinson	Feb 17, 2009	

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-107000.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-107000.tab	2014-05-24 06:32:04 UTC (rev 5156)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-107000.tab	2014-05-24 07:39:14 UTC (rev 5157)
@@ -1,8 +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
-OMIM:107000	ANONYCHIA-ONYCHODYSTROPHY					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:107000	HPO	17.02.2009
-OMIM:107000	ANONYCHIA-ONYCHODYSTROPHY					HP:0001374	Congenital hip dislocation			IEA	IEA							OMIM:107000	HPO	17.02.2009
-OMIM:107000	ANONYCHIA-ONYCHODYSTROPHY					HP:0001798	Anonychia			IEA	IEA							OMIM:107000	HPO	17.02.2009
-OMIM:107000	ANONYCHIA-ONYCHODYSTROPHY					HP:0002164	Nail dysplasia			IEA	IEA							OMIM:107000	HPO	17.02.2009
-OMIM:107000	%107000 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 6; NDNC6;;ANONYCHIA/HYPONYCHIA AND ONYCHODYSTROPHY;;ANONYCHIA, PARTIAL					HP:0009884	Tapered distal phalanges of the hand			IEA	IEA	rare					OMIM-CS:SKELETAL_FEET > TAPERED DISTAL PHALANGES (IN SOME PATIENTS)	OMIM:107000	HPO:skoehler	18.11.2012
-OMIM:107000	%107000 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 6; NDNC6;;ANONYCHIA/HYPONYCHIA AND ONYCHODYSTROPHY;;ANONYCHIA, PARTIAL					HP:0009884	Tapered distal phalanges of the hand			IEA	IEA	rare					OMIM-CS:SKELETAL_HANDS > TAPERED DISTAL PHALANGES (IN SOME PATIENTS)	OMIM:107000	HPO:skoehler	18.11.2012
-OMIM:107000	%107000 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 6; NDNC6;;ANONYCHIA/HYPONYCHIA AND ONYCHODYSTROPHY;;ANONYCHIA, PARTIAL					HP:0008404	Nail dystrophy			IEA	IEA						OMIM-CS:SKIN, NAILS, HAIR_NAILS > ONYCHODYSTROPHY	OMIM:107000	HPO:skoehler	03.05.2013
+Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created	
+OMIM:107000	ANONYCHIA-ONYCHODYSTROPHY					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:107000	HPO	Feb 17, 2009	
+OMIM:107000	ANONYCHIA-ONYCHODYSTROPHY					HP:0001374	Congenital hip dislocation			IEA	IEA							OMIM:107000	HPO	Feb 17, 2009	
+OMIM:107000	ANONYCHIA-ONYCHODYSTROPHY					HP:0001798	Anonychia			IEA	IEA							OMIM:107000	HPO	Feb 17, 2009	
+OMIM:107000	ANONYCHIA-ONYCHODYSTROPHY					HP:0002164	Nail dysplasia			IEA	IEA							OMIM:107000	HPO	Feb 17, 2009	
+OMIM:107000	%107000 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 6; NDNC6;;ANONYCHIA/HYPONYCHIA AND ONYCHODYSTROPHY;;ANONYCHIA, PARTIAL					HP:0009884	Tapered distal phalanges of finger			IEA	IEA	rare					OMIM-CS:SKELETAL_HANDS > TAPERED DISTAL PHALANGES (IN SOME PATIENTS)	OMIM:107000	HPO:skoehler	Nov 18, 2012	
+OMIM:107000	%107000 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 6; NDNC6;;ANONYCHIA/HYPONYCHIA AND ONYCHODYSTROPHY;;ANONYCHIA, PARTIAL					HP:0008404	Nail dystrophy			IEA	IEA						OMIM-CS:SKIN, NAILS, HAIR_NAILS > ONYCHODYSTROPHY	OMIM:107000	HPO:skoehler	May 3, 2013	

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-123100.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-123100.tab	2014-05-24 06:32:04 UTC (rev 5156)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-123100.tab	2014-05-24 07:39:14 UTC (rev 5157)
@@ -1,6 +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	
-OMIM:123100	CRANIOSYNOSTOSIS, TYPE 1					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:123100	HPO	17.02.2009	
-OMIM:123100	CRANIOSYNOSTOSIS, TYPE 1					HP:0000262	Turricephaly			IEA	IEA							OMIM:123100	HPO	17.02.2009	
-OMIM:123100	CRANIOSYNOSTOSIS, TYPE 1					HP:0000268	Dolichocephaly			IEA	IEA							OMIM:123100	HPO	17.02.2009	
-OMIM:123100	CRANIOSYNOSTOSIS, TYPE 1					HP:0001363	Craniosynostosis			TAS	TAS							OMIM:123100	HPO:probinson	17.02.2009	
-OMIM:123100	#123100 CRANIOSYNOSTOSIS, TYPE 1; CRS1;;CRANIOSYNOSTOSIS; CRS;;CRANIOSTENOSISSCAPHOCEPHALY, INCLUDED;;OXYCEPHALY, INCLUDED					HP:0000263	Oxycephaly			IEA	IEA						OMIM-CS:SKULL > OXYCEPHALY	OMIM:123100	HPO:skoehler	17.10.2012
+OMIM:123100	CRANIOSYNOSTOSIS, TYPE 1					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:123100	HPO:probinson	Feb 17, 2009	
+OMIM:123100	CRANIOSYNOSTOSIS, TYPE 1					HP:0000262	Turricephaly			IEA	IEA							OMIM:123100	HPO:probinson	Feb 17, 2009	
+OMIM:123100	CRANIOSYNOSTOSIS, TYPE 1					HP:0000268	Dolichocephaly			TAS	TAS							OMIM:123100	HPO:probinson	Feb 17, 2009	
+OMIM:123100	CRANIOSYNOSTOSIS, TYPE 1					HP:0001363	Craniosynostosis			TAS	TAS							OMIM:123100	HPO:probinson	Feb 17, 2009	
+OMIM:123100	#123100 CRANIOSYNOSTOSIS, TYPE 1; CRS1;;CRANIOSYNOSTOSIS; CRS;;CRANIOSTENOSISSCAPHOCEPHALY, INCLUDED;;OXYCEPHALY, INCLUDED					HP:0000263	Oxycephaly			TAS	TAS							OMIM:123100	HPO:skoehler	Oct 17, 2012	
+OMIM:123100	#123100 CRANIOSYNOSTOSIS, TYPE 1; CRS1;;CRANIOSYNOSTOSIS; CRS;;CRANIOSTENOSISSCAPHOCEPHALY, INCLUDED;;OXYCEPHALY, INCLUDED					HP:0001249	Intellectual disability			TAS	TAS				NOT	NOT		OMIM:123100	HPO:probinson	May 24, 2014	

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-128101.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-128101.tab	2014-05-24 06:32:04 UTC (rev 5156)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-128101.tab	2014-05-24 07:39:14 UTC (rev 5157)
@@ -1,9 +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
-OMIM:128101	DYSTONIA MUSCULORUM DEFORMANS 4					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:128101	HPO	17.02.2009
-OMIM:128101	DYSTONIA MUSCULORUM DEFORMANS 4					HP:0000473	Spasmodic torticollis			IEA	IEA							OMIM:128101	HPO	17.02.2009
-OMIM:128101	DYSTONIA MUSCULORUM DEFORMANS 4					HP:0001304	Torsion dystonia			IEA	IEA							OMIM:128101	HPO	17.02.2009
-OMIM:128101	DYSTONIA MUSCULORUM DEFORMANS 4					HP:0001618	Dysphonia			IEA	IEA							OMIM:128101	HPO	17.02.2009
-OMIM:128101	#128101 DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT; DYT4;;WHISPERING DYSPHONIA, HEREDITARY;;DYSTONIA MUSCULORUM DEFORMANS 4					HP:0002015	Dysphagia			IEA	IEA						OMIM-CS:ABDOMEN_GASTROINTESTINAL > DYSPHAGIA	OMIM:128101	HPO:skoehler	17.07.2013
-OMIM:128101	#128101 DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT; DYT4;;WHISPERING DYSPHONIA, HEREDITARY;;DYSTONIA MUSCULORUM DEFORMANS 4					HP:0000275	Narrow face			IEA	IEA						OMIM-CS:HEAD AND NECK_FACE > THIN FACE	OMIM:128101	HPO:skoehler	17.07.2013
-OMIM:128101	#128101 DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT; DYT4;;WHISPERING DYSPHONIA, HEREDITARY;;DYSTONIA MUSCULORUM DEFORMANS 4					HP:0007325	Generalized dystonia			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > GENERALIZED DYSTONIA	OMIM:128101	HPO:skoehler	17.07.2013
-OMIM:128101	#128101 DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT; DYT4;;WHISPERING DYSPHONIA, HEREDITARY;;DYSTONIA MUSCULORUM DEFORMANS 4					HP:0002451	Limb dystonia			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > LIMB DYSTONIA	OMIM:128101	HPO:skoehler	17.07.2013
+Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created	
+OMIM:128101	DYSTONIA MUSCULORUM DEFORMANS 4					HP:0000006	Autosomal dominant inheritance			TAS	TAS							OMIM:128101	HPO:probinson	Feb 17, 2009	
+OMIM:128101	DYSTONIA MUSCULORUM DEFORMANS 4					HP:0000473	Torticollis			TAS	TAS							OMIM:128101	HPO:probinson	Feb 17, 2009	
+OMIM:128101	DYSTONIA MUSCULORUM DEFORMANS 4					HP:0001304	Torsion dystonia			TAS	TAS							OMIM:128101	HPO:probinson	Feb 17, 2009	
+OMIM:128101	DYSTONIA MUSCULORUM DEFORMANS 4					HP:0001618	Dysphonia			TAS	TAS							OMIM:128101	HPO:probinson	Feb 17, 2009	
+OMIM:128101	#128101 DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT; DYT4;;WHISPERING DYSPHONIA, HEREDITARY;;DYSTONIA MUSCULORUM DEFORMANS 4					HP:0002015	Dysphagia			TAS	TAS						OMIM-CS:ABDOMEN_GASTROINTESTINAL > DYSPHAGIA	OMIM:128101	HPO:skoehler	Jul 17, 2013	
+OMIM:128101	#128101 DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT; DYT4;;WHISPERING DYSPHONIA, HEREDITARY;;DYSTONIA MUSCULORUM DEFORMANS 4					HP:0000275	Narrow face			TAS	TAS						OMIM-CS:HEAD AND NECK_FACE > THIN FACE	OMIM:128101	HPO:skoehler	Jul 17, 2013	
+OMIM:128101	#128101 DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT; DYT4;;WHISPERING DYSPHONIA, HEREDITARY;;DYSTONIA MUSCULORUM DEFORMANS 4					HP:0007325	Generalized dystonia			TAS	TAS						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > GENERALIZED DYSTONIA	OMIM:128101	HPO:skoehler	Jul 17, 2013	
+OMIM:128101	#128101 DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT; DYT4;;WHISPERING DYSPHONIA, HEREDITARY;;DYSTONIA MUSCULORUM DEFORMANS 4					HP:0002451	Limb dystonia			TAS	TAS						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > LIMB DYSTONIA	OMIM:128101	HPO:skoehler	Jul 17, 2013	
+OMIM:128101	#128101 DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT; DYT4;;WHISPERING DYSPHONIA, HEREDITARY;;DYSTONIA MUSCULORUM DEFORMANS 4					HP:0002066	Gait ataxia			TAS	TAS							OMIM:128101	HPO:skoehler	May 24, 2014	
+OMIM:128101	#128101 DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT; DYT4;;WHISPERING DYSPHONIA, HEREDITARY;;DYSTONIA MUSCULORUM DEFORMANS 4					HP:0009938	Sunken cheeks			TAS	TAS							OMIM:128101	HPO:skoehler	May 24, 2014	

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137440.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137440.tab	2014-05-24 06:32:04 UTC (rev 5156)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137440.tab	2014-05-24 07:39:14 UTC (rev 5157)
@@ -1,12 +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	
-OMIM:137440	GERSTMANN-STRAUSSLER DISEASE					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:137440	HPO	Feb 17, 2009	
-OMIM:137440	GERSTMANN-STRAUSSLER DISEASE					HP:0000709	Psychosis			IEA	IEA							OMIM:137440	HPO	Feb 17, 2009	
-OMIM:137440	GERSTMANN-STRAUSSLER DISEASE					HP:0000712	Emotional lability			IEA	IEA							OMIM:137440	HPO	Feb 17, 2009	
-OMIM:137440	GERSTMANN-STRAUSSLER DISEASE					HP:0000716	Depression			IEA	IEA							OMIM:137440	HPO	Feb 17, 2009	
-OMIM:137440	GERSTMANN-STRAUSSLER DISEASE					HP:0000718	Aggressive behavior			IEA	IEA							OMIM:137440	HPO	Feb 17, 2009	
-OMIM:137440	GERSTMANN-STRAUSSLER DISEASE					HP:0000726	Dementia			IEA	IEA							OMIM:137440	HPO	Feb 17, 2009	
-OMIM:137440	GERSTMANN-STRAUSSLER DISEASE					HP:0000751	Personality changes			IEA	IEA							OMIM:137440	HPO	Feb 17, 2009	
-OMIM:137440	GERSTMANN-STRAUSSLER DISEASE					HP:0001257	Spasticity			IEA	IEA							OMIM:137440	HPO	Feb 17, 2009	
+OMIM:137440	GERSTMANN-STRAUSSLER DISEASE					HP:0000006	Autosomal dominant inheritance			TAS	TAS							OMIM:137440	HPO:probinson	Feb 17, 2009	
+OMIM:137440	GERSTMANN-STRAUSSLER DISEASE					HP:0000709	Psychosis			TAS	TAS							OMIM:137440	HPO	Feb 17, 2009	
+OMIM:137440	GERSTMANN-STRAUSSLER DISEASE					HP:0000712	Emotional lability			TAS	TAS							OMIM:137440	HPO	Feb 17, 2009	
+OMIM:137440	GERSTMANN-STRAUSSLER DISEASE					HP:0000716	Depression			TAS	TAS							OMIM:137440	HPO	Feb 17, 2009	
+OMIM:137440	GERSTMANN-STRAUSSLER DISEASE					HP:0000718	Aggressive behavior			TAS	TAS							OMIM:137440	HPO	Feb 17, 2009	
+OMIM:137440	GERSTMANN-STRAUSSLER DISEASE					HP:0000726	Dementia	HP:0003584	Late onset	TAS	TAS							OMIM:137440	HPO	Feb 17, 2009	
+OMIM:137440	GERSTMANN-STRAUSSLER DISEASE					HP:0000751	Personality changes			TAS	TAS							OMIM:137440	HPO	Feb 17, 2009	
+OMIM:137440	GERSTMANN-STRAUSSLER DISEASE					HP:0001257	Spasticity			TAS	TAS							OMIM:137440	HPO	Feb 17, 2009	
 OMIM:137440	GERSTMANN-STRAUSSLER DISEASE					HP:0001260	Dysarthria			IEA	IEA							OMIM:137440	HPO	Feb 17, 2009	
 OMIM:137440	GERSTMANN-STRAUSSLER DISEASE					HP:0001272	Cerebellar atrophy			IEA	IEA							OMIM:137440	HPO	Feb 17, 2009	
 OMIM:137440	GERSTMANN-STRAUSSLER DISEASE					HP:0001284	Areflexia			IEA	IEA							OMIM:137440	HPO	Feb 17, 2009	
@@ -15,7 +15,7 @@
 OMIM:137440	GERSTMANN-STRAUSSLER DISEASE					HP:0001337	Tremor			IEA	IEA							OMIM:137440	HPO	Feb 17, 2009	
 OMIM:137440	GERSTMANN-STRAUSSLER DISEASE					HP:0001347	Hyperreflexia			IEA	IEA							OMIM:137440	HPO	Feb 17, 2009	
 OMIM:137440	GERSTMANN-STRAUSSLER DISEASE					HP:0001824	Weight loss			TAS	TAS							OMIM:137440	HPO:skoehler	Feb 17, 2009	
-OMIM:137440	GERSTMANN-STRAUSSLER DISEASE					HP:0002063	Rigidity			IEA	IEA							OMIM:137440	HPO	Feb 17, 2009	
+OMIM:137440	GERSTMANN-STRAUSSLER DISEASE					HP:0002063	Rigidity			TAS	TAS							OMIM:137440	HPO	Feb 17, 2009	
 OMIM:137440	GERSTMANN-STRAUSSLER DISEASE					HP:0002066	Gait ataxia			IEA	IEA							OMIM:137440	HPO	Feb 17, 2009	
 OMIM:137440	GERSTMANN-STRAUSSLER DISEASE					HP:0002067	Bradykinesia			IEA	IEA							OMIM:137440	HPO	Feb 17, 2009	
 OMIM:137440	GERSTMANN-STRAUSSLER DISEASE					HP:0002070	Limb ataxia			IEA	IEA							OMIM:137440	HPO	Feb 17, 2009	
@@ -27,4 +27,4 @@
 OMIM:137440	GERSTMANN-STRAUSSLER DISEASE					HP:0003678	Rapidly progressive			TAS	TAS							OMIM:137440	HPO:skoehler	Feb 17, 2009	
 OMIM:137440	GERSTMANN-STRAUSSLER DISEASE					HP:0007340	Lower limb muscle weakness			IEA	IEA							OMIM:137440	HPO	Feb 17, 2009	
 OMIM:137440	GERSTMANN-STRAUSSLER DISEASE					HP:0007772	Impaired smooth pursuit			IEA	IEA							OMIM:137440	HPO:skoehler	Jun 18, 2010	
-OMIM:137440	#137440 GERSTMANN-STRAUSSLER DISEASE; GSD;;ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE;;GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; GSS;;CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS;;AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY;;PRION DEMENTIACEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, INCLUDED					HP:0003812	Phenotypic variability			IEA	IEA						OMIM-CS:MISCELLANEOUS > VARIABLE PHENOTYPE	OMIM:137440	HPO:skoehler	28.01.2014
+OMIM:137440	#137440 GERSTMANN-STRAUSSLER DISEASE; GSD;;ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE;;GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; GSS;;CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS;;AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY;;PRION DEMENTIACEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, INCLUDED					HP:0003812	Phenotypic variability			IEA	IEA						OMIM-CS:MISCELLANEOUS > VARIABLE PHENOTYPE	OMIM:137440	HPO:skoehler	Jan 28, 2014	

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-144700.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-144700.tab	2014-05-24 06:32:04 UTC (rev 5156)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-144700.tab	2014-05-24 07:39:14 UTC (rev 5157)
@@ -1,3 +1,3 @@
 Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created	
-OMIM:144700	RENAL CELL CARCINOMA 1					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:144700	HPO	Feb 17, 2009	
-OMIM:144700	RENAL CELL CARCINOMA 1					HP:0005584	Renal cell carcinoma			TAS	TAS							OMIM:144700	HPO:probinson	Mar 31, 2013	
+MIM:144700	RENAL CELL CARCINOMA, NONPAPILLARY					HP:0005584	Renal cell carcinoma			TAS	TAS							OMIM:144700	HPO:probinson	Mar 31, 2013	
+MIM:144700	RENAL CELL CARCINOMA, NONPAPILLARY					HP:0003745	Sporadic			TAS	TAS							OMIM:144700	HPO	May 24, 2014	

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-163955.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-163955.tab	2014-05-24 06:32:04 UTC (rev 5156)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-163955.tab	2014-05-24 07:39:14 UTC (rev 5157)
@@ -1,33 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:163955	NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:163955	HPO	17.02.2009
-OMIM:163955	NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME					HP:0000028	Cryptorchidism			IEA	IEA							OMIM:163955	HPO	17.02.2009
-OMIM:163955	NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME					HP:0000154	Wide mouth			IEA	IEA							OMIM:163955	HPO	17.02.2009
-OMIM:163955	NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME					HP:0000286	Epicanthus			IEA	IEA							OMIM:163955	HPO	17.02.2009
-OMIM:163955	NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME					HP:0000303	Mandibular prognathia			IEA	IEA							OMIM:163955	HPO	17.02.2009
-OMIM:163955	NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME					HP:0000316	Hypertelorism			IEA	IEA							OMIM:163955	HPO	17.02.2009
-OMIM:163955	NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME					HP:0000349	Widow's peak			IEA	IEA							OMIM:163955	HPO	17.02.2009
-OMIM:163955	NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME					HP:0000358	Posteriorly rotated ears			IEA	IEA							OMIM:163955	HPO	17.02.2009
-OMIM:163955	NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME					HP:0000369	Low-set ears			IEA	IEA							OMIM:163955	HPO	17.02.2009
-OMIM:163955	NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME					HP:0000407	Sensorineural hearing impairment			IEA	IEA							OMIM:163955	HPO	17.02.2009
-OMIM:163955	NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME					HP:0000431	Broad nasal bridge			IEA	IEA							OMIM:163955	HPO	17.02.2009
-OMIM:163955	NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME					HP:0000465	Webbed neck			IEA	IEA							OMIM:163955	HPO	17.02.2009
-OMIM:163955	NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME					HP:0000470	Short neck			IEA	IEA							OMIM:163955	HPO	17.02.2009
-OMIM:163955	NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME					HP:0000494	Downslanted palpebral fissures			IEA	IEA							OMIM:163955	HPO	17.02.2009
-OMIM:163955	NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME					HP:0000508	Ptosis			IEA	IEA							OMIM:163955	HPO	17.02.2009
-OMIM:163955	NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME					HP:0000577	Exotropia			IEA	IEA							OMIM:163955	HPO	17.02.2009
-OMIM:163955	NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME					HP:0000767	Pectus excavatum			IEA	IEA							OMIM:163955	HPO	17.02.2009
-OMIM:163955	NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME					HP:0001003	Multiple lentigines			IEA	IEA							OMIM:163955	HPO	17.02.2009
-OMIM:163955	NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME					HP:0001004	Lymphedema			IEA	IEA							OMIM:163955	HPO	17.02.2009
-OMIM:163955	NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME					HP:0001028	Hemangiomas			IEA	IEA							OMIM:163955	HPO	17.02.2009
-OMIM:163955	NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME					HP:0001249	Intellectual disability			IEA	IEA							OMIM:163955	HPO	17.02.2009
-OMIM:163955	NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME					HP:0001263	Global developmental delay			IEA	IEA							OMIM:163955	HPO	17.02.2009
-OMIM:163955	NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME					HP:0001629	Ventricular septal defect			IEA	IEA							OMIM:163955	HPO	17.02.2009
-OMIM:163955	NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME					HP:0001634	Mitral valve prolapse			IEA	IEA							OMIM:163955	HPO	17.02.2009
-OMIM:163955	NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME					HP:0001642	Pulmonic stenosis			IEA	IEA							OMIM:163955	HPO	17.02.2009
-OMIM:163955	NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME					HP:0001655	Patent foramen ovale			IEA	IEA							OMIM:163955	HPO	17.02.2009
-OMIM:163955	NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME					HP:0002751	Kyphoscoliosis			IEA	IEA							OMIM:163955	HPO	17.02.2009
-OMIM:163955	NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME					HP:0002967	Cubitus valgus			IEA	IEA							OMIM:163955	HPO	17.02.2009
-OMIM:163955	NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME					HP:0003764	Nevus			IEA	IEA							OMIM:163955	HPO	17.02.2009
-OMIM:163955	NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME					HP:0004322	Short stature			IEA	IEA							OMIM:163955	HPO	17.02.2009
-OMIM:163955	NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME					HP:0006099	Metacarpophalangeal joint hyperextensibility			IEA	IEA							OMIM:163955	HPO	17.02.2009
-OMIM:163955	NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME					HP:0006610	Wide intermamillary distance			IEA	IEA							OMIM:163955	HPO	17.02.2009

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-177720.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-177720.tab	2014-05-24 06:32:04 UTC (rev 5156)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-177720.tab	2014-05-24 07:39:14 UTC (rev 5157)
@@ -1,12 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created	
-OMIM:177720	PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK					HP:0000951	Abnormality of the skin			IEA	IEA							OMIM:177720	HPO	17.02.2009	
-OMIM:177720	PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK					HP:0001102	Angioid streaks of the retina			IEA	IEA							OMIM:177720	HPO	17.02.2009	
-OMIM:177720	PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK					HP:0001677	Coronary artery disease			IEA	IEA							OMIM:177720	HPO	17.02.2009	
-OMIM:177720	PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK					HP:0001717	Coronary artery calcification			IEA	IEA							OMIM:177720	HPO	17.02.2009	
-OMIM:177720	PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK					HP:0001718	Mitral stenosis			IEA	IEA							OMIM:177720	HPO	17.02.2009	
-OMIM:177720	PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK					HP:0001723	Restrictive cardiomyopathy			IEA	IEA							OMIM:177720	HPO	17.02.2009	
-OMIM:177720	PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK					HP:0002239	Gastrointestinal hemorrhage			IEA	IEA							OMIM:177720	HPO	17.02.2009	
-OMIM:177720	PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK					HP:0004940	Generalized arterial calcification			IEA	IEA							OMIM:177720	HPO	17.02.2009	
-OMIM:177720	PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK					HP:0004950	Peripheral arterial disease			IEA	IEA							OMIM:177720	HPO	17.02.2009	
-OMIM:177720	PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK					HP:0005462	Calcification of falx cerebri			TAS	TAS							OMIM:177720	HPO:probinson	17.02.2009	
-OMIM:177720	%177720 PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK;;PSHK1;;PSEUDOHYPERKALEMIA EDINBURGHPSEUDOHYPERKALEMIA CHISWICK, INCLUDED;;PSEUDOHYPERKALEMIA FALKIRK, INCLUDED					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT FORM	OMIM:177720	HPO:skoehler	29.05.2013

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-179760.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-179760.tab	2014-05-24 06:32:04 UTC (rev 5156)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-179760.tab	2014-05-24 07:39:14 UTC (rev 5157)
@@ -1,4 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:179760	RENAL CELL CARCINOMA 2					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:179760	HPO	17.02.2009
-OMIM:179760	RENAL CELL CARCINOMA 2					HP:0001939	Abnormality of metabolism/homeostasis			IEA	IEA							OMIM:179760	HPO	17.02.2009
-OMIM:179760	RENAL CELL CARCINOMA 2					HP:0006770	Sporadic, nonpapillary renal cell carcinoma			IEA	IEA							OMIM:179760	HPO	17.02.2009

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-179770.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-179770.tab	2014-05-24 06:32:04 UTC (rev 5156)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-179770.tab	2014-05-24 07:39:14 UTC (rev 5157)
@@ -1,4 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:179770	RENAL CELL CARCINOMA 3					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:179770	HPO	17.02.2009
-OMIM:179770	RENAL CELL CARCINOMA 3					HP:0001939	Abnormality of metabolism/homeostasis			IEA	IEA							OMIM:179770	HPO	17.02.2009
-OMIM:179770	RENAL CELL CARCINOMA 3					HP:0006770	Sporadic, nonpapillary renal cell carcinoma			IEA	IEA							OMIM:179770	HPO	17.02.2009

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-183000.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-183000.tab	2014-05-24 06:32:04 UTC (rev 5156)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-183000.tab	2014-05-24 07:39:14 UTC (rev 5157)
@@ -1,3 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:183000	SPINOCEREBELLAR ATAXIA AND PLAQUE-LIKE DEPOSITS					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:183000	HPO	17.02.2009
-OMIM:183000	SPINOCEREBELLAR ATAXIA AND PLAQUE-LIKE DEPOSITS					HP:0001251	Ataxia			IEA	IEA							OMIM:183000	HPO	17.02.2009

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-185010.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-185010.tab	2014-05-24 06:32:04 UTC (rev 5156)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-185010.tab	2014-05-24 07:39:14 UTC (rev 5157)
@@ -1,7 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:185010	STOMATOCYTOSIS II					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:185010	HPO	17.02.2009
-OMIM:185010	STOMATOCYTOSIS II					HP:0001046	Intermittent jaundice			IEA	IEA							OMIM:185010	HPO	17.02.2009
-OMIM:185010	STOMATOCYTOSIS II					HP:0001081	Cholelithiasis			IEA	IEA							OMIM:185010	HPO	17.02.2009
-OMIM:185010	STOMATOCYTOSIS II					HP:0001878	Hemolytic anemia			IEA	IEA							OMIM:185010	HPO	17.02.2009
-OMIM:185010	STOMATOCYTOSIS II					HP:0003575	Increased intracellular sodium			IEA	IEA							OMIM:185010	HPO	17.02.2009
-OMIM:185010	STOMATOCYTOSIS II					HP:0004446	Stomatocytosis			IEA	IEA							OMIM:185010	HPO	17.02.2009

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-188200.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-188200.tab	2014-05-24 06:32:04 UTC (rev 5156)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-188200.tab	2014-05-24 07:39:14 UTC (rev 5157)
@@ -1,2 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:188200	THUMBNAILS, ABSENT					HP:0001597	Abnormality of the nail			IEA	IEA							OMIM:188200	HPO	17.02.2009

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-188600.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-188600.tab	2014-05-24 06:32:04 UTC (rev 5156)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-188600.tab	2014-05-24 07:39:14 UTC (rev 5157)
@@ -1,2 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:188600	THYROXINE-BINDING GLOBULIN OF SERUM					HP:0001939	Abnormality of metabolism/homeostasis			IEA	IEA							OMIM:188600	HPO	17.02.2009

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-191020.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-191020.tab	2014-05-24 06:32:04 UTC (rev 5156)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-191020.tab	2014-05-24 07:39:14 UTC (rev 5157)
@@ -1,4 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:191020	TROPHOBLAST-LYMPHOCYTE CROSSREACTIVE ANTIGEN					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:191020	HPO	17.02.2009
-OMIM:191020	TROPHOBLAST-LYMPHOCYTE CROSSREACTIVE ANTIGEN					HP:0000119	Abnormality of the genitourinary system			IEA	IEA							OMIM:191020	HPO	17.02.2009
-OMIM:191020	TROPHOBLAST-LYMPHOCYTE CROSSREACTIVE ANTIGEN					HP:0001939	Abnormality of metabolism/homeostasis			IEA	IEA							OMIM:191020	HPO	17.02.2009

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-191090.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-191090.tab	2014-05-24 06:32:04 UTC (rev 5156)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-191090.tab	2014-05-24 07:39:14 UTC (rev 5157)
@@ -1,4 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:191090	TUBEROUS SCLEROSIS 4					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:191090	HPO	17.02.2009
-OMIM:191090	TUBEROUS SCLEROSIS 4					HP:0001597	Abnormality of the nail			IEA	IEA							OMIM:191090	HPO	17.02.2009
-OMIM:191090	TUBEROUS SCLEROSIS 4					HP:0007554	Confetti hypopigmentation pattern of lower leg skin			IEA	IEA							OMIM:191090	HPO	17.02.2009

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-191091.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-191091.tab	2014-05-24 06:32:04 UTC (rev 5156)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-191091.tab	2014-05-24 07:39:14 UTC (rev 5157)
@@ -1,3 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:191091	TUBEROUS SCLEROSIS 3					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:191091	HPO	17.02.2009
-OMIM:191091	TUBEROUS SCLEROSIS 3					HP:0001939	Abnormality of metabolism/homeostasis			IEA	IEA							OMIM:191091	HPO	17.02.2009

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-191100.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-191100.tab	2014-05-24 06:32:04 UTC (rev 5156)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-191100.tab	2014-05-24 07:39:14 UTC (rev 5157)
@@ -1,14 +1,14 @@
 Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created	
 OMIM:191100	TUBEROUS SCLEROSIS					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:191100	HPO	Feb 17, 2009	
-OMIM:191100	TUBEROUS SCLEROSIS					HP:0000107	Renal cysts			IEA	IEA							OMIM:191100	HPO	Feb 17, 2009	
+OMIM:191100	TUBEROUS SCLEROSIS					HP:0000107	Renal cyst			IEA	IEA							OMIM:191100	HPO	Feb 17, 2009	
 OMIM:191100	TUBEROUS SCLEROSIS					HP:0000169	Gingival fibromatosis			IEA	IEA							OMIM:191100	HPO	Feb 17, 2009	
 OMIM:191100	TUBEROUS SCLEROSIS					HP:0000717	Autism			IEA	IEA							OMIM:191100	HPO	Feb 17, 2009	
 OMIM:191100	TUBEROUS SCLEROSIS					HP:0000821	Hypothyroidism			IEA	IEA							OMIM:191100	HPO	Feb 17, 2009	
 OMIM:191100	TUBEROUS SCLEROSIS					HP:0000826	Precocious puberty			IEA	IEA							OMIM:191100	HPO	Feb 17, 2009	
-OMIM:191100	TUBEROUS SCLEROSIS					HP:0000957	Cafe-au-lait spot			IEA	IEA							OMIM:191100	HPO	Feb 17, 2009	
+OMIM:191100	TUBEROUS SCLEROSIS					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:191100	HPO	May 24, 2014	
 OMIM:191100	TUBEROUS SCLEROSIS					HP:0001250	Seizures			IEA	IEA							OMIM:191100	HPO	Feb 17, 2009	
 OMIM:191100	TUBEROUS SCLEROSIS					HP:0001328	Specific learning disability			IEA	IEA							OMIM:191100	HPO:skoehler	Jun 18, 2010	
-OMIM:191100	TUBEROUS SCLEROSIS					HP:0001482	Subcutaneous nodules			IEA	IEA							OMIM:191100	HPO	Feb 17, 2009	
+OMIM:191100	TUBEROUS SCLEROSIS					HP:0001482	Subcutaneous nodule			IEA	IEA							OMIM:191100	HPO	Feb 17, 2009	
 OMIM:191100	TUBEROUS SCLEROSIS					HP:0001716	Wolff-Parkinson-White syndrome			IEA	IEA							OMIM:191100	HPO	Feb 17, 2009	
 OMIM:191100	TUBEROUS SCLEROSIS					HP:0002086	Abnormality of the respiratory system			IEA	IEA							OMIM:191100	HPO	Feb 17, 2009	
 OMIM:191100	TUBEROUS SCLEROSIS					HP:0002514	Cerebral calcification			IEA	IEA							OMIM:191100	HPO	Feb 17, 2009	
@@ -36,4 +36,4 @@
 OMIM:191100	#191100 TUBEROUS SCLEROSIS 1; TSC1;;TUBEROUS SCLEROSIS COMPLEX; TSC;;TUBEROSE SCLEROSIS; TS					HP:0010762	Chordoma			TAS	TAS							OMIM:191100	HPO:skoehler	Oct 17, 2012	
 OMIM:191100	#191100 TUBEROUS SCLEROSIS 1; TSC1;;TUBEROUS SCLEROSIS COMPLEX; TSC;;TUBEROSE SCLEROSIS; TS					HP:0011097	Epileptic spasms			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INFANTILE SPASMS	OMIM:191100	HPO:skoehler	Oct 17, 2012	
 OMIM:191100	#191100 TUBEROUS SCLEROSIS 1; TSC1;;TUBEROUS SCLEROSIS COMPLEX; TSC;;TUBEROSE SCLEROSIS; TS					HP:0001249	Intellectual disability			TAS	TAS	30 %						OMIM:191100	HPO:skoehler	Nov 18, 2012	
-OMIM:191100	#191100 TUBEROUS SCLEROSIS 1; TSC1;;TUBEROUS SCLEROSIS COMPLEX; TSC;;TUBEROSE SCLEROSIS; TS					HP:0012469	Infantile spasms			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INFANTILE SPASMS	OMIM:191100	HPO:skoehler	28.11.2013
+OMIM:191100	#191100 TUBEROUS SCLEROSIS 1; TSC1;;TUBEROUS SCLEROSIS COMPLEX; TSC;;TUBEROSE SCLEROSIS; TS					HP:0012469	Infantile spasms			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INFANTILE SPASMS	OMIM:191100	HPO:skoehler	Nov 28, 2013	

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-193680.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-193680.tab	2014-05-24 06:32:04 UTC (rev 5156)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-193680.tab	2014-05-24 07:39:14 UTC (rev 5157)
@@ -1,4 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:193680	WHISPERING DYSPHONIA, HEREDITARY					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:193680	HPO	17.02.2009
-OMIM:193680	WHISPERING DYSPHONIA, HEREDITARY					HP:0001304	Torsion dystonia			IEA	IEA							OMIM:193680	HPO	17.02.2009
-OMIM:193680	WHISPERING DYSPHONIA, HEREDITARY					HP:0001618	Dysphonia			IEA	IEA							OMIM:193680	HPO:skoehler	20.06.2010

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-194100.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-194100.tab	2014-05-24 06:32:04 UTC (rev 5156)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-194100.tab	2014-05-24 07:39:14 UTC (rev 5157)
@@ -1,2 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:194100	WISDOM TEETH, ABSENCE OF					HP:0000164	Abnormality of the teeth			IEA	IEA							OMIM:194100	HPO	17.02.2009

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-194380.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-194380.tab	2014-05-24 06:32:04 UTC (rev 5156)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-194380.tab	2014-05-24 07:39:14 UTC (rev 5157)
@@ -1,13 +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
-OMIM:194380	DEHYDRATED HEREDITARY STOMATOCYTOSIS					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:194380	HPO	17.02.2009
-OMIM:194380	DEHYDRATED HEREDITARY STOMATOCYTOSIS					HP:0000952	Jaundice			IEA	IEA							OMIM:194380	HPO	17.02.2009
-OMIM:194380	DEHYDRATED HEREDITARY STOMATOCYTOSIS					HP:0000980	Pallor			IEA	IEA							OMIM:194380	HPO	17.02.2009
-OMIM:194380	DEHYDRATED HEREDITARY STOMATOCYTOSIS					HP:0003641	Hemoglobinuria			IEA	IEA							OMIM:194380	HPO	17.02.2009
-OMIM:194380	DEHYDRATED HEREDITARY STOMATOCYTOSIS					HP:0005535	Exercise-induced hemolysis			IEA	IEA							OMIM:194380	HPO	17.02.2009
-OMIM:194380	DEHYDRATED HEREDITARY STOMATOCYTOSIS					HP:0008269	Increased red cell hemolysis by shear stress			IEA	IEA							OMIM:194380	HPO	17.02.2009
-OMIM:194380	#194380 DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIAAND/OR PERINATAL EDEMA; DHS;;DEHYDRATED HEREDITARY STOMATOCYTOSIS;;XEROCYTOSIS, HEREDITARY;;DESICCYTOSIS, HEREDITARY;;STOMATOCYTOSIS I;;PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK; PSHK1;;PSEUDOHYPERKALEMIA EDINBURGH					HP:0001081	Cholelithiasis			IEA	IEA	rare					OMIM-CS:ABDOMEN_BILIARY TRACT > CHOLELITHIASIS (IN SOME PATIENTS)	OMIM:194380	HPO:skoehler	30.07.2013
-OMIM:194380	#194380 DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIAAND/OR PERINATAL EDEMA; DHS;;DEHYDRATED HEREDITARY STOMATOCYTOSIS;;XEROCYTOSIS, HEREDITARY;;DESICCYTOSIS, HEREDITARY;;STOMATOCYTOSIS I;;PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK; PSHK1;;PSEUDOHYPERKALEMIA EDINBURGH					HP:0012115	Hepatitis			IEA	IEA	rare					OMIM-CS:ABDOMEN_LIVER > HEPATITIS (RARE)	OMIM:194380	HPO:skoehler	30.07.2013
-OMIM:194380	#194380 DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIAAND/OR PERINATAL EDEMA; DHS;;DEHYDRATED HEREDITARY STOMATOCYTOSIS;;XEROCYTOSIS, HEREDITARY;;DESICCYTOSIS, HEREDITARY;;STOMATOCYTOSIS I;;PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK; PSHK1;;PSEUDOHYPERKALEMIA EDINBURGH					HP:0002240	Hepatomegaly			IEA	IEA	rare					OMIM-CS:ABDOMEN_LIVER > HEPATOMEGALY (IN SOME PATIENTS)	OMIM:194380	HPO:skoehler	30.07.2013
-OMIM:194380	#194380 DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIAAND/OR PERINATAL EDEMA; DHS;;DEHYDRATED HEREDITARY STOMATOCYTOSIS;;XEROCYTOSIS, HEREDITARY;;DESICCYTOSIS, HEREDITARY;;STOMATOCYTOSIS I;;PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK; PSHK1;;PSEUDOHYPERKALEMIA EDINBURGH					HP:0001744	Splenomegaly			IEA	IEA	rare					OMIM-CS:ABDOMEN_SPLEEN > SPLENOMEGALY (IN SOME PATIENTS)	OMIM:194380	HPO:skoehler	30.07.2013
-OMIM:194380	#194380 DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIAAND/OR PERINATAL EDEMA; DHS;;DEHYDRATED HEREDITARY STOMATOCYTOSIS;;XEROCYTOSIS, HEREDITARY;;DESICCYTOSIS, HEREDITARY;;STOMATOCYTOSIS I;;PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK; PSHK1;;PSEUDOHYPERKALEMIA EDINBURGH					HP:0001923	Reticulocytosis			IEA	IEA						OMIM-CS:HEMATOLOGY > INCREASED RETICULOCYTE COUNT	OMIM:194380	HPO:skoehler	30.07.2013
-OMIM:194380	#194380 DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIAAND/OR PERINATAL EDEMA; DHS;;DEHYDRATED HEREDITARY STOMATOCYTOSIS;;XEROCYTOSIS, HEREDITARY;;DESICCYTOSIS, HEREDITARY;;STOMATOCYTOSIS I;;PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK; PSHK1;;PSEUDOHYPERKALEMIA EDINBURGH					HP:0003281	Increased serum ferritin			IEA	IEA	rare					OMIM-CS:LABORATORY ABNORMALITIES > INCREASED SERUM FERRITIN (IN SOME PATIENTS)	OMIM:194380	HPO:skoehler	30.07.2013
+Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created	
+OMIM:194380	DEHYDRATED HEREDITARY STOMATOCYTOSIS					HP:0000006	Autosomal dominant inheritance			TAS	TAS							OMIM:194380	HPO	Feb 17, 2009	
+OMIM:194380	DEHYDRATED HEREDITARY STOMATOCYTOSIS					HP:0000952	Jaundice			TAS	TAS	rare						OMIM:194380	HPO	Feb 17, 2009	
+OMIM:194380	DEHYDRATED HEREDITARY STOMATOCYTOSIS					HP:0000980	Pallor			TAS	TAS	rare						OMIM:194380	HPO	Feb 17, 2009	
+OMIM:194380	DEHYDRATED HEREDITARY STOMATOCYTOSIS					HP:0003641	Hemoglobinuria			TAS	TAS	rare						OMIM:194380	HPO	Feb 17, 2009	
+OMIM:194380	DEHYDRATED HEREDITARY STOMATOCYTOSIS					HP:0005535	Exercise-induced hemolysis			IEA	IEA							OMIM:194380	HPO	Feb 17, 2009	
+OMIM:194380	DEHYDRATED HEREDITARY STOMATOCYTOSIS					HP:0008269	Increased red cell hemolysis by shear stress			IEA	IEA							OMIM:194380	HPO	Feb 17, 2009	
+OMIM:194380	#194380 DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIAAND/OR PERINATAL EDEMA; DHS;;DEHYDRATED HEREDITARY STOMATOCYTOSIS;;XEROCYTOSIS, HEREDITARY;;DESICCYTOSIS, HEREDITARY;;STOMATOCYTOSIS I;;PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK; PSHK1;;PSEUDOHYPERKALEMIA EDINBURGH					HP:0001081	Cholelithiasis			IEA	IEA	rare					OMIM-CS:ABDOMEN_BILIARY TRACT > CHOLELITHIASIS (IN SOME PATIENTS)	OMIM:194380	HPO:skoehler	Jul 30, 2013	
+OMIM:194380	#194380 DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIAAND/OR PERINATAL EDEMA; DHS;;DEHYDRATED HEREDITARY STOMATOCYTOSIS;;XEROCYTOSIS, HEREDITARY;;DESICCYTOSIS, HEREDITARY;;STOMATOCYTOSIS I;;PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK; PSHK1;;PSEUDOHYPERKALEMIA EDINBURGH					HP:0012115	Hepatitis			IEA	IEA	rare					OMIM-CS:ABDOMEN_LIVER > HEPATITIS (RARE)	OMIM:194380	HPO:skoehler	Jul 30, 2013	
+OMIM:194380	#194380 DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIAAND/OR PERINATAL EDEMA; DHS;;DEHYDRATED HEREDITARY STOMATOCYTOSIS;;XEROCYTOSIS, HEREDITARY;;DESICCYTOSIS, HEREDITARY;;STOMATOCYTOSIS I;;PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK; PSHK1;;PSEUDOHYPERKALEMIA EDINBURGH					HP:0002240	Hepatomegaly			TAS	TAS	rare					OMIM-CS:ABDOMEN_LIVER > HEPATOMEGALY (IN SOME PATIENTS)	OMIM:194380	HPO:skoehler	Jul 30, 2013	
+OMIM:194380	#194380 DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIAAND/OR PERINATAL EDEMA; DHS;;DEHYDRATED HEREDITARY STOMATOCYTOSIS;;XEROCYTOSIS, HEREDITARY;;DESICCYTOSIS, HEREDITARY;;STOMATOCYTOSIS I;;PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK; PSHK1;;PSEUDOHYPERKALEMIA EDINBURGH					HP:0001744	Splenomegaly			TAS	TAS	rare					OMIM-CS:ABDOMEN_SPLEEN > SPLENOMEGALY (IN SOME PATIENTS)	OMIM:194380	HPO:skoehler	Jul 30, 2013	
+OMIM:194380	#194380 DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIAAND/OR PERINATAL EDEMA; DHS;;DEHYDRATED HEREDITARY STOMATOCYTOSIS;;XEROCYTOSIS, HEREDITARY;;DESICCYTOSIS, HEREDITARY;;STOMATOCYTOSIS I;;PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK; PSHK1;;PSEUDOHYPERKALEMIA EDINBURGH					HP:0001923	Reticulocytosis			TAS	TAS						OMIM-CS:HEMATOLOGY > INCREASED RETICULOCYTE COUNT	OMIM:194380	HPO:skoehler	Jul 30, 2013	
+OMIM:194380	#194380 DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIAAND/OR PERINATAL EDEMA; DHS;;DEHYDRATED HEREDITARY STOMATOCYTOSIS;;XEROCYTOSIS, HEREDITARY;;DESICCYTOSIS, HEREDITARY;;STOMATOCYTOSIS I;;PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK; PSHK1;;PSEUDOHYPERKALEMIA EDINBURGH					HP:0003281	Increased serum ferritin			IEA	IEA	rare					OMIM-CS:LABORATORY ABNORMALITIES > INCREASED SERUM FERRITIN (IN SOME PATIENTS)	OMIM:194380	HPO:skoehler	Jul 30, 2013	

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-201460.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-201460.tab	2014-05-24 06:32:04 UTC (rev 5156)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-201460.tab	2014-05-24 07:39:14 UTC (rev 5157)
@@ -1,13 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:201460	ACYL-COA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF					HP:0000007	Autosomal recessive inheritance			IEA	IEA							OMIM:201460	HPO	17.02.2009
-OMIM:201460	ACYL-COA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF					HP:0001252	Muscular hypotonia			IEA	IEA							OMIM:201460	HPO	17.02.2009
-OMIM:201460	ACYL-COA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF					HP:0001324	Muscle weakness			IEA	IEA							OMIM:201460	HPO	17.02.2009
-OMIM:201460	ACYL-COA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF					HP:0001397	Hepatic steatosis			IEA	IEA							OMIM:201460	HPO	17.02.2009
-OMIM:201460	ACYL-COA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF					HP:0001639	Hypertrophic cardiomyopathy			IEA	IEA							OMIM:201460	HPO	17.02.2009
-OMIM:201460	ACYL-COA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF					HP:0001645	Sudden cardiac death			IEA	IEA							OMIM:201460	HPO	17.02.2009
-OMIM:201460	ACYL-COA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF					HP:0001958	Nonketotic hypoglycemia			IEA	IEA							OMIM:201460	HPO	17.02.2009
-OMIM:201460	ACYL-COA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF					HP:0002013	Vomiting			IEA	IEA							OMIM:201460	HPO	17.02.2009
-OMIM:201460	ACYL-COA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF					HP:0002240	Hepatomegaly			IEA	IEA							OMIM:201460	HPO	17.02.2009
-OMIM:201460	ACYL-COA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF					HP:0003215	Dicarboxylic aciduria			IEA	IEA							OMIM:201460	HPO	17.02.2009
-OMIM:201460	ACYL-COA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF					HP:0003234	Decreased plasma carnitine			IEA	IEA							OMIM:201460	HPO	17.02.2009
-OMIM:201460	ACYL-COA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF					HP:0003593	Infantile onset			IEA	IEA							OMIM:201460	HPO	17.02.2009

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-209000.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-209000.tab	2014-05-24 06:32:04 UTC (rev 5156)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-209000.tab	2014-05-24 07:39:14 UTC (rev 5157)
@@ -1,8 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:209000	ATAXIC DIPLEGIA WITH DEFECTIVE CELLULAR IMMUNITY					HP:0000007	Autosomal recessive inheritance			IEA	IEA							OMIM:209000	HPO	17.02.2009
-OMIM:209000	ATAXIC DIPLEGIA WITH DEFECTIVE CELLULAR IMMUNITY					HP:0000153	Abnormality of the mouth			IEA	IEA							OMIM:209000	HPO	17.02.2009
-OMIM:209000	ATAXIC DIPLEGIA WITH DEFECTIVE CELLULAR IMMUNITY					HP:0000765	Abnormality of the thorax			IEA	IEA							OMIM:209000	HPO	17.02.2009
-OMIM:209000	ATAXIC DIPLEGIA WITH DEFECTIVE CELLULAR IMMUNITY					HP:0001251	Ataxia			IEA	IEA							OMIM:209000	HPO	17.02.2009
-OMIM:209000	ATAXIC DIPLEGIA WITH DEFECTIVE CELLULAR IMMUNITY					HP:0002014	Diarrhea			IEA	IEA							OMIM:209000	HPO	17.02.2009
-OMIM:209000	ATAXIC DIPLEGIA WITH DEFECTIVE CELLULAR IMMUNITY					HP:0003487	Babinski sign			IEA	IEA							OMIM:209000	HPO	17.02.2009
-OMIM:209000	ATAXIC DIPLEGIA WITH DEFECTIVE CELLULAR IMMUNITY					HP:0004429	Recurrent viral infections			IEA	IEA							OMIM:209000	HPO	17.02.2009

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-210450.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-210450.tab	2014-05-24 06:32:04 UTC (rev 5156)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-210450.tab	2014-05-24 07:39:14 UTC (rev 5157)
@@ -1,4 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:210450	BILE ACID, SYNTHETIC DEFECT OF					HP:0001508	Failure to thrive			IEA	IEA							OMIM:210450	HPO	17.02.2009
-OMIM:210450	BILE ACID, SYNTHETIC DEFECT OF					HP:0001939	Abnormality of metabolism/homeostasis			IEA	IEA							OMIM:210450	HPO	17.02.2009
-OMIM:210450	BILE ACID, SYNTHETIC DEFECT OF					HP:0002028	Chronic diarrhea			IEA	IEA							OMIM:210450	HPO	17.02.2009

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-212110.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-212110.tab	2014-05-24 06:32:04 UTC (rev 5156)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-212110.tab	2014-05-24 07:39:14 UTC (rev 5157)
@@ -1,4 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:212110	CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE					HP:0000007	Autosomal recessive inheritance			IEA	IEA							OMIM:212110	HPO	17.02.2009
-OMIM:212110	CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE					HP:0001635	Congestive heart failure			IEA	IEA							OMIM:212110	HPO	17.02.2009
-OMIM:212110	CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE					HP:0001644	Dilated cardiomyopathy			IEA	IEA							OMIM:212110	HPO	17.02.2009

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-212120.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-212120.tab	2014-05-24 06:32:04 UTC (rev 5156)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-212120.tab	2014-05-24 07:39:14 UTC (rev 5157)
@@ -1,5 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:212120	CARDIOGENITAL SYNDROME					HP:0000007	Autosomal recessive inheritance			IEA	IEA							OMIM:212120	HPO	17.02.2009
-OMIM:212120	CARDIOGENITAL SYNDROME					HP:0001249	Intellectual disability			IEA	IEA							OMIM:212120	HPO	17.02.2009
-OMIM:212120	CARDIOGENITAL SYNDROME					HP:0001638	Cardiomyopathy			IEA	IEA							OMIM:212120	HPO	17.02.2009
-OMIM:212120	CARDIOGENITAL SYNDROME					HP:0008734	Decreased testicular size			IEA	IEA							OMIM:212120	HPO	17.02.2009

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-212900.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-212900.tab	2014-05-24 06:32:04 UTC (rev 5156)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-212900.tab	2014-05-24 07:39:14 UTC (rev 5157)
@@ -1,5 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:212900	CEREBELLAR ATAXIA, INFANTILE, WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA					HP:0000007	Autosomal recessive inheritance			IEA	IEA							OMIM:212900	HPO	17.02.2009
-OMIM:212900	CEREBELLAR ATAXIA, INFANTILE, WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA					HP:0000544	External ophthalmoplegia			IEA	IEA							OMIM:212900	HPO	17.02.2009
-OMIM:212900	CEREBELLAR ATAXIA, INFANTILE, WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA					HP:0001251	Ataxia			IEA	IEA							OMIM:212900	HPO	17.02.2009
-OMIM:212900	CEREBELLAR ATAXIA, INFANTILE, WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA					HP:0003593	Infantile onset			IEA	IEA							OMIM:212900	HPO	17.02.2009

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-218500.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-218500.tab	2014-05-24 06:32:04 UTC (rev 5156)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-218500.tab	2014-05-24 07:39:14 UTC (rev 5157)
@@ -1,5 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:218500	CRANIOSYNOSTOSIS					HP:0000007	Autosomal recessive inheritance			IEA	IEA							OMIM:218500	HPO	17.02.2009
-OMIM:218500	CRANIOSYNOSTOSIS					HP:0000262	Turricephaly			IEA	IEA							OMIM:218500	HPO	17.02.2009
-OMIM:218500	CRANIOSYNOSTOSIS					HP:0000268	Dolichocephaly			IEA	IEA							OMIM:218500	HPO	17.02.2...
 
[truncated message content]

[Obo-svn-commit] SF.net SVN: obo:[5156] phenotype-commons/annotations/OMIM/by-disease/ annotated

[<pr...@us...>]

Revision: 5156
          http://sourceforge.net/p/obo/svn/5156
Author:   probins
Date:     2014-05-24 06:32:04 +0000 (Sat, 24 May 2014)
Log Message:
-----------
Adding new disease entries

Modified Paths:
--------------
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-107250.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-112800.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-116200.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-121201.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137800.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-138800.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-152950.tab

Removed Paths:
-------------
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-107950.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-112900.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-116150.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-131445.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137765.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-143890.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-156590.tab

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-107250.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-107250.tab	2014-05-22 16:45:01 UTC (rev 5155)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-107250.tab	2014-05-24 06:32:04 UTC (rev 5156)
@@ -1,9 +1,9 @@
-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:107250	ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS				FOXE3, PITX3	HP:0000006	Autosomal dominant inheritance			PCS	PCS							OMIM:107250	HPO	17.02.2009
-MIM:107250	ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS				FOXE3, PITX3	HP:0000515	Corneal clouding			PCS	PCS							OMIM:107250	HPO	17.02.2009
-MIM:107250	ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS			NM_005029:c.657ins17bp	FOXE3, PITX3	HP:0001115	Posterior polar cataract			PCS	PCS	47/47						pmid:15286169	HPO	12.12.2010
-MIM:107250	ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS			NM_005029:c.657ins17bp	FOXE3, PITX3	HP:0007696	Anterior segment mesencyhmal dysgenesis			PCS	PCS	5/44						pmid:15286169	HPO	12.12.2010
-MIM:107250	ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS			NM_005029:c.650delG	FOXE3, PITX3	HP:0001115	Posterior polar cataract			PCS	PCS	6/6						pmid:15286169	HPO	12.12.2010
-MIM:107250	ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS			NM_005029:c.657ins17bp	FOXE3, PITX3	HP:0001115	Posterior polar cataract			PCS	PCS	29/29						pmid:16636655	HPO	12.12.2010
-MIM:107250	ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS			NM_005029:c.657ins17bp	FOXE3, PITX3	HP:0001115	Posterior polar cataract			PCS	PCS	16/16						pmid:18989383	HPO	12.12.2010
-MIM:107250	ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS			NM_005029:c.657ins17bp	FOXE3, PITX3	HP:0007696	Anterior segment mesencyhmal dysgenesis			PCS	PCS	7/16						pmid:18989383	HPO	12.12.2010
+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:107250	ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS				FOXE3, PITX3	HP:0000006	Autosomal dominant inheritance			TAS	TAS							OMIM:107250	HPO	Feb 17, 2009	
+MIM:107250	ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS				FOXE3, PITX3	HP:0000515	Corneal clouding			TAS	TAS							OMIM:107250	HPO	Feb 17, 2009	
+MIM:107250	ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS			NM_005029:c.657ins17bp	FOXE3, PITX3	HP:0001115	Posterior polar cataract			PCS	PCS	47/47						pmid:15286169	HPO	Dec 12, 2010	
+MIM:107250	ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS			NM_005029:c.657ins17bp	FOXE3, PITX3	HP:0007696	Anterior segment mesencyhmal dysgenesis			PCS	PCS	5/44						pmid:15286169	HPO	Dec 12, 2010	
+MIM:107250	ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS			NM_005029:c.650delG	FOXE3, PITX3	HP:0001115	Posterior polar cataract			PCS	PCS	6/6						pmid:15286169	HPO	Dec 12, 2010	
+MIM:107250	ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS			NM_005029:c.657ins17bp	FOXE3, PITX3	HP:0001115	Posterior polar cataract			PCS	PCS	29/29						pmid:16636655	HPO	Dec 12, 2010	
+MIM:107250	ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS			NM_005029:c.657ins17bp	FOXE3, PITX3	HP:0001115	Posterior polar cataract			PCS	PCS	16/16						pmid:18989383	HPO	Dec 12, 2010	
+MIM:107250	ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS			NM_005029:c.657ins17bp	FOXE3, PITX3	HP:0007696	Anterior segment mesencyhmal dysgenesis			PCS	PCS	7/16						pmid:18989383	HPO	Dec 12, 2010	

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-107950.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-107950.tab	2014-05-22 16:45:01 UTC (rev 5155)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-107950.tab	2014-05-24 06:32:04 UTC (rev 5156)
@@ -1,4 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:107950	ARRHENOBLASTOMA--THYROID ADENOMA					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:107950	HPO	17.02.2009
-OMIM:107950	ARRHENOBLASTOMA--THYROID ADENOMA					HP:0000119	Abnormality of the genitourinary system			IEA	IEA							OMIM:107950	HPO	17.02.2009
-OMIM:107950	ARRHENOBLASTOMA--THYROID ADENOMA					HP:0000854	Thyroid adenoma			IEA	IEA							OMIM:107950	HPO	17.02.2009

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-112800.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-112800.tab	2014-05-22 16:45:01 UTC (rev 5155)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-112800.tab	2014-05-24 06:32:04 UTC (rev 5156)
@@ -1,9 +1,9 @@
 Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created	
-OMIM:112800	BRACHYDACTYLY, TYPE A4					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:112800	HPO	17.02.2009	
-OMIM:112800	BRACHYDACTYLY, TYPE A4					HP:0001507	Growth abnormality			IEA	IEA							OMIM:112800	HPO	17.02.2009	
-OMIM:112800	BRACHYDACTYLY, TYPE A4					HP:0005850	Congenital talipes calcaneovalgus			IEA	IEA							OMIM:112800	HPO	17.02.2009	
-OMIM:112800	BRACHYDACTYLY, TYPE A4					HP:0009370	Type A Brachydactyly			TAS	TAS							OMIM:112800	HPO	17.02.2009	
-OMIM:112800	BRACHYDACTYLY, TYPE A4					HP:0100387	Aplasia of the middle phalanges of the toes			TAS	TAS							OMIM:112800	HPO	17.02.2009	
-OMIM:112800	BRACHYDACTYLY, TYPE A4					HP:0009577	Short middle phalanx of the 2nd finger			TAS	TAS							OMIM:112800	HPO:probinson	09.06.2012	
-OMIM:112800	BRACHYDACTYLY, TYPE A4					HP:0004220	Short middle phalanx of the 5th finger			TAS	TAS							OMIM:112800	HPO:probinson	09.06.2012	
-OMIM:112800	BRACHYDACTYLY, TYPE A4					HP:0001884	Talipes calcaneovalgus	HP:0003577	Congenital onset	TAS	TAS							OMIM:112800	HPO:probinson	09.06.2012	
+OMIM:112800	BRACHYDACTYLY, TYPE A4					HP:0000006	Autosomal dominant inheritance			TAS	TAS							OMIM:112800	HPO:probinson	Feb 17, 2009	
+OMIM:112800	BRACHYDACTYLY, TYPE A4					HP:0001507	Growth abnormality			TAS	TAS				NOT	NOT		OMIM:112800	HPO:probinson	Feb 17, 2009	
+OMIM:112800	BRACHYDACTYLY, TYPE A4					HP:0005850	Congenital talipes calcaneovalgus			TAS	TAS							OMIM:112800	HPO:probinson	Feb 17, 2009	
+OMIM:112800	BRACHYDACTYLY, TYPE A4					HP:0009370	Type A brachydactyly			TAS	TAS							OMIM:112800	HPO:probinson	Feb 17, 2009	
+OMIM:112800	BRACHYDACTYLY, TYPE A4					HP:0100387	Aplasia of the middle phalanges of the toes			TAS	TAS							OMIM:112800	HPO:probinson	Feb 17, 2009	
+OMIM:112800	BRACHYDACTYLY, TYPE A4					HP:0009577	Short middle phalanx of the 2nd finger			TAS	TAS							OMIM:112800	HPO:probinson	Jun 9, 2012	
+OMIM:112800	BRACHYDACTYLY, TYPE A4					HP:0004220	Short middle phalanx of the 5th finger			TAS	TAS							OMIM:112800	HPO:probinson	Jun 9, 2012	
+OMIM:112800	BRACHYDACTYLY, TYPE A4					HP:0001884	Talipes calcaneovalgus	HP:0003577	Congenital onset	TAS	TAS							OMIM:112800	HPO:probinson	Jun 9, 2012	

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-112900.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-112900.tab	2014-05-22 16:45:01 UTC (rev 5155)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-112900.tab	2014-05-24 06:32:04 UTC (rev 5156)
@@ -1,7 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created	
-OMIM:112900	BRACHYDACTYLY, TYPE A5, WITH NAIL DYSPLASIA					HP:0000006	Autosomal dominant inheritance			TAS	TAS							OMIM:112900	HPO:probinson	17.02.2009	
-OMIM:112900	BRACHYDACTYLY, TYPE A5, WITH NAIL DYSPLASIA					HP:0001507	Growth abnormality			TAS	TAS				NOT	NOT		OMIM:112900	HPO:probinson	17.02.2009	
-OMIM:112900	BRACHYDACTYLY, TYPE A5, WITH NAIL DYSPLASIA					HP:0002164	Nail dysplasia			TAS	TAS							OMIM:112900	HPO:probinson	17.02.2009	
-OMIM:112900	BRACHYDACTYLY, TYPE A5, WITH NAIL DYSPLASIA					HP:0009370	Type A Brachydactyly			TAS	TAS							OMIM:112900	HPO:probinson	17.02.2009	
-OMIM:112900	BRACHYDACTYLY, TYPE A5, WITH NAIL DYSPLASIA					HP:0009606	Complete duplication of distal phalanx of the thumb			TAS	TAS							OMIM:112900	HPO:probinson	17.02.2009	
-OMIM:112900	BRACHYDACTYLY, TYPE A5, WITH NAIL DYSPLASIA					HP:0010239	Aplasia of the middle phalanx of the hand			TAS	TAS							OMIM:112900	HPO:probinson	17.02.2009	

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-116150.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-116150.tab	2014-05-22 16:45:01 UTC (rev 5155)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-116150.tab	2014-05-24 06:32:04 UTC (rev 5156)
@@ -1,8 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:116150	CATARACT-MICROCORNEA SYNDROME					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:116150	HPO	17.02.2009
-OMIM:116150	CATARACT-MICROCORNEA SYNDROME					HP:0000482	Microcornea			IEA	IEA							OMIM:116150	HPO	17.02.2009
-OMIM:116150	CATARACT-MICROCORNEA SYNDROME					HP:0000518	Cataract			IEA	IEA							OMIM:116150	HPO	17.02.2009
-OMIM:116150	CATARACT-MICROCORNEA SYNDROME					HP:0000545	Myopia			IEA	IEA							OMIM:116150	HPO	17.02.2009
-OMIM:116150	CATARACT-MICROCORNEA SYNDROME					HP:0000612	Iris coloboma			IEA	IEA							OMIM:116150	HPO	17.02.2009
-OMIM:116150	CATARACT-MICROCORNEA SYNDROME					HP:0000647	Sclerocornea			IEA	IEA							OMIM:116150	HPO	17.02.2009
-OMIM:116150	CATARACT-MICROCORNEA SYNDROME					HP:0000659	Peters anomaly			IEA	IEA							OMIM:116150	HPO	17.02.2009

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-116200.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-116200.tab	2014-05-22 16:45:01 UTC (rev 5155)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-116200.tab	2014-05-24 06:32:04 UTC (rev 5156)
@@ -1,4 +1,5 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:116200	CATARACT, ZONULAR PULVERULENT 1					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:116200	HPO	17.02.2009
-OMIM:116200	CATARACT, ZONULAR PULVERULENT 1					HP:0000519	Congenital cataract			IEA	IEA							OMIM:116200	HPO	17.02.2009
-OMIM:116200	CATARACT, ZONULAR PULVERULENT 1					HP:0100018	Nuclear cataract			IEA	IEA							OMIM:116200	HPO:skoehler	18.06.2010
+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	
+OMIM:116200	CATARACT, ZONULAR PULVERULENT 1					HP:0000006	Autosomal dominant inheritance			TAS	TAS							OMIM:116200	HPO:probinson	Feb 17, 2009	
+OMIM:116200	CATARACT, ZONULAR PULVERULENT 1					HP:0000519	Congenital cataract			TAS	TAS							OMIM:116200	HPO:probinson	Feb 17, 2009	
+OMIM:116200	CATARACT, ZONULAR PULVERULENT 1					HP:0100018	Nuclear cataract			TAS	TAS							OMIM:116200	HPO:skoehler	Jun 18, 2010	
+OMIM:116200	CATARACT, ZONULAR PULVERULENT 1					HP:0010693	Pulverulent Cataract			TAS	TAS							OMIM:116200	HPO:probinson	May 22, 2014	

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-121201.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-121201.tab	2014-05-22 16:45:01 UTC (rev 5155)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-121201.tab	2014-05-24 06:32:04 UTC (rev 5156)
@@ -1,6 +1,5 @@
 Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created	
-OMIM:121201	EPILEPSY, BENIGN NEONATAL, 2					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:121201	HPO:probinson	17.02.2009	
-OMIM:121201	EPILEPSY, BENIGN NEONATAL, 2					HP:0002069	Generalized tonic-clonic seizures			IEA	IEA						Onset of seizures at 2-8 days of life. Most remit by 2 months.	OMIM:121201	HPO:probinson	17.02.2009	
-OMIM:121201	EPILEPSY, BENIGN NEONATAL, 2					HP:0002266	Focal clonic seizures			IEA	IEA							OMIM:121201	HPO:probinson	17.02.2009
-OMIM:121201	#121201 SEIZURES, BENIGN FAMILIAL NEONATAL, 2; BFNS2;;CONVULSIONS, BENIGN FAMILIAL NEONATAL, 2; BFNC2					HP:0001425	Heterogeneous			IEA	IEA						OMIM-CS:MISCELLANEOUS > GENETIC HETEROGENEITY (SEE EBN1 121200)	OMIM:121201	HPO:skoehler	16.11.2012
-	
+OMIM:121201	EPILEPSY, BENIGN NEONATAL, 2					HP:0000006	Autosomal dominant inheritance			TAS	TAS							OMIM:121201	HPO:probinson	Feb 17, 2009	
+OMIM:121201	EPILEPSY, BENIGN NEONATAL, 2					HP:0002069	Generalized tonic-clonic seizures	HP:0003623	Neonatal onset	TAS	TAS						Onset of seizures at 2-8 days of life. Most remit by 2 months.	OMIM:121201	HPO:probinson	Feb 17, 2009	
+OMIM:121201	EPILEPSY, BENIGN NEONATAL, 2					HP:0002266	Focal clonic seizures			TAS	TAS							OMIM:121201	HPO:probinson	Feb 17, 2009	
+OMIM:121201	EPILEPSY, BENIGN NEONATAL, 2					HP:0001263	Global developmental delay			TAS	TAS				NOT	NOT		OMIM:121201	HPO:probinson	May 22, 2014	

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-131445.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-131445.tab	2014-05-22 16:45:01 UTC (rev 5155)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-131445.tab	2014-05-24 06:32:04 UTC (rev 5156)
@@ -1,4 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:131445	EPENDYMOMA, FAMILIAL					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:131445	HPO	17.02.2009
-OMIM:131445	EPENDYMOMA, FAMILIAL					HP:0001939	Abnormality of metabolism/homeostasis			IEA	IEA							OMIM:131445	HPO	17.02.2009
-OMIM:131445	EPENDYMOMA, FAMILIAL					HP:0002888	Ependymoma			IEA	IEA							OMIM:131445	HPO	17.02.2009

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137765.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137765.tab	2014-05-22 16:45:01 UTC (rev 5155)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137765.tab	2014-05-24 06:32:04 UTC (rev 5156)
@@ -1,18 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:137765	GLAUCOMA-LENS ECTOPIA-MICROSPHEROPHAKIA-STIFFNESS-SHORTNESS SYNDROME					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:137765	HPO	17.02.2009
-OMIM:137765	GLAUCOMA-LENS ECTOPIA-MICROSPHEROPHAKIA-STIFFNESS-SHORTNESS SYNDROME					HP:0000156	High-arched palate			IEA	IEA							OMIM:137765	HPO	17.02.2009
-OMIM:137765	GLAUCOMA-LENS ECTOPIA-MICROSPHEROPHAKIA-STIFFNESS-SHORTNESS SYNDROME					HP:0000248	Brachycephaly			IEA	IEA							OMIM:137765	HPO	17.02.2009
-OMIM:137765	GLAUCOMA-LENS ECTOPIA-MICROSPHEROPHAKIA-STIFFNESS-SHORTNESS SYNDROME					HP:0000272	Malar hypoplasia			IEA	IEA							OMIM:137765	HPO	17.02.2009
-OMIM:137765	GLAUCOMA-LENS ECTOPIA-MICROSPHEROPHAKIA-STIFFNESS-SHORTNESS SYNDROME					HP:0000303	Mandibular prognathia			IEA	IEA							OMIM:137765	HPO	17.02.2009
-OMIM:137765	GLAUCOMA-LENS ECTOPIA-MICROSPHEROPHAKIA-STIFFNESS-SHORTNESS SYNDROME					HP:0000327	Hypoplasia of the maxilla			IEA	IEA							OMIM:137765	HPO	17.02.2009
-OMIM:137765	GLAUCOMA-LENS ECTOPIA-MICROSPHEROPHAKIA-STIFFNESS-SHORTNESS SYNDROME					HP:0000501	Glaucoma			IEA	IEA							OMIM:137765	HPO	17.02.2009
-OMIM:137765	GLAUCOMA-LENS ECTOPIA-MICROSPHEROPHAKIA-STIFFNESS-SHORTNESS SYNDROME					HP:0000541	Retinal detachment			IEA	IEA							OMIM:137765	HPO	17.02.2009
-OMIM:137765	GLAUCOMA-LENS ECTOPIA-MICROSPHEROPHAKIA-STIFFNESS-SHORTNESS SYNDROME					HP:0000545	Myopia			IEA	IEA							OMIM:137765	HPO	17.02.2009
-OMIM:137765	GLAUCOMA-LENS ECTOPIA-MICROSPHEROPHAKIA-STIFFNESS-SHORTNESS SYNDROME					HP:0000951	Abnormality of the skin			IEA	IEA							OMIM:137765	HPO	17.02.2009
-OMIM:137765	GLAUCOMA-LENS ECTOPIA-MICROSPHEROPHAKIA-STIFFNESS-SHORTNESS SYNDROME					HP:0001083	Ectopia lentis			IEA	IEA							OMIM:137765	HPO	17.02.2009
-OMIM:137765	GLAUCOMA-LENS ECTOPIA-MICROSPHEROPHAKIA-STIFFNESS-SHORTNESS SYNDROME					HP:0001156	Brachydactyly			IEA	IEA							OMIM:137765	HPO	17.02.2009
-OMIM:137765	GLAUCOMA-LENS ECTOPIA-MICROSPHEROPHAKIA-STIFFNESS-SHORTNESS SYNDROME					HP:0001387	Joint stiffness			IEA	IEA							OMIM:137765	HPO	17.02.2009
-OMIM:137765	GLAUCOMA-LENS ECTOPIA-MICROSPHEROPHAKIA-STIFFNESS-SHORTNESS SYNDROME					HP:0002650	Scoliosis			IEA	IEA							OMIM:137765	HPO	17.02.2009
-OMIM:137765	GLAUCOMA-LENS ECTOPIA-MICROSPHEROPHAKIA-STIFFNESS-SHORTNESS SYNDROME					HP:0002808	Kyphosis			IEA	IEA							OMIM:137765	HPO	17.02.2009
-OMIM:137765	GLAUCOMA-LENS ECTOPIA-MICROSPHEROPHAKIA-STIFFNESS-SHORTNESS SYNDROME					HP:0004279	Short palm			IEA	IEA							OMIM:137765	HPO	17.02.2009
-OMIM:137765	GLAUCOMA-LENS ECTOPIA-MICROSPHEROPHAKIA-STIFFNESS-SHORTNESS SYNDROME					HP:0004322	Short stature			IEA	IEA							OMIM:137765	HPO:skoehler	20.06.2010

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137800.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137800.tab	2014-05-22 16:45:01 UTC (rev 5155)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137800.tab	2014-05-24 06:32:04 UTC (rev 5156)
@@ -1,8 +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	
 OMIM:137800	GLIOMA OF BRAIN, FAMILIALGLIOBLASTOMA MULTIFORME, INCLUDED					HP:0012174	Glioblastoma multiforme			TAS	TAS							OMIM:137800	HPO:probinson	Feb 17, 2009	
-OMIM:137800	#137800 GLIOMA SUSCEPTIBILITY 1; GLM1GLIOMA OF BRAIN, FAMILIAL, INCLUDED; GLM, INCLUDED;;GLIOBLASTOMA MULTIFORME, INCLUDED; GBM, INCLUDED;;ASTROCYTOMA, INCLUDED;;OLIGODENDROGLIOMA, INCLUDED;;EPENDYMOMA, INCLUDED;;SUBEPENDYMOMA, INCLUDED					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT	OMIM:137800	HPO:skoehler	Jan 21, 2013	
-OMIM:137800	#137800 GLIOMA SUSCEPTIBILITY 1; GLM1GLIOMA OF BRAIN, FAMILIAL, INCLUDED; GLM, INCLUDED;;GLIOBLASTOMA MULTIFORME, INCLUDED; GBM, INCLUDED;;ASTROCYTOMA, INCLUDED;;OLIGODENDROGLIOMA, INCLUDED;;EPENDYMOMA, INCLUDED;;SUBEPENDYMOMA, INCLUDED					HP:0001428	Somatic mutation			IEA	IEA						OMIM-CS:INHERITANCE > SOMATIC MUTATION	OMIM:137800	HPO:skoehler	Jan 21, 2013	
-OMIM:137800	#137800 GLIOMA SUSCEPTIBILITY 1; GLM1GLIOMA OF BRAIN, FAMILIAL, INCLUDED; GLM, INCLUDED;;GLIOBLASTOMA MULTIFORME, INCLUDED; GBM, INCLUDED;;ASTROCYTOMA, INCLUDED;;OLIGODENDROGLIOMA, INCLUDED;;EPENDYMOMA, INCLUDED;;SUBEPENDYMOMA, INCLUDED					HP:0009592	Astrocytoma			IEA	IEA						OMIM-CS:NEOPLASIA > ASTROCYTOMAS	OMIM:137800	HPO:skoehler	Jan 22, 2013	
-OMIM:137800	#137800 GLIOMA SUSCEPTIBILITY 1; GLM1GLIOMA OF BRAIN, FAMILIAL, INCLUDED; GLM, INCLUDED;;GLIOBLASTOMA MULTIFORME, INCLUDED; GBM, INCLUDED;;ASTROCYTOMA, INCLUDED;;OLIGODENDROGLIOMA, INCLUDED;;EPENDYMOMA, INCLUDED;;SUBEPENDYMOMA, INCLUDED					HP:0002888	Ependymoma			IEA	IEA						OMIM-CS:NEOPLASIA > EPENDYMOMAS	OMIM:137800	HPO:skoehler	Jan 22, 2013	
-OMIM:137800	#137800 GLIOMA SUSCEPTIBILITY 1; GLM1GLIOMA OF BRAIN, FAMILIAL, INCLUDED; GLM, INCLUDED;;GLIOBLASTOMA MULTIFORME, INCLUDED; GBM, INCLUDED;;ASTROCYTOMA, INCLUDED;;OLIGODENDROGLIOMA, INCLUDED;;EPENDYMOMA, INCLUDED;;SUBEPENDYMOMA, INCLUDED					HP:0100843	Glioblastoma			IEA	IEA						OMIM-CS:NEOPLASIA > GLIOBLASTOMA MULTIFORME	OMIM:137800	HPO:skoehler	Jan 22, 2013	
-OMIM:137800	#137800 GLIOMA SUSCEPTIBILITY 1; GLM1GLIOMA OF BRAIN, FAMILIAL, INCLUDED; GLM, INCLUDED;;GLIOBLASTOMA MULTIFORME, INCLUDED; GBM, INCLUDED;;ASTROCYTOMA, INCLUDED;;OLIGODENDROGLIOMA, INCLUDED;;EPENDYMOMA, INCLUDED;;SUBEPENDYMOMA, INCLUDED					HP:0002888	Ependymoma			IEA	IEA						OMIM-CS:NEOPLASIA > SUBEPENDYMOMAS	OMIM:137800	HPO:skoehler	Jan 22, 2013	
+OMIM:137800	#137800 GLIOMA SUSCEPTIBILITY 1; GLM1GLIOMA OF BRAIN, FAMILIAL, INCLUDED; GLM, INCLUDED;;GLIOBLASTOMA MULTIFORME, INCLUDED; GBM, INCLUDED;;ASTROCYTOMA, INCLUDED;;OLIGODENDROGLIOMA, INCLUDED;;EPENDYMOMA, INCLUDED;;SUBEPENDYMOMA, INCLUDED					HP:0000006	Autosomal dominant inheritance			TAS	TAS						OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT	OMIM:137800	HPO:skoehler	Jan 21, 2013	
+OMIM:137800	#137800 GLIOMA SUSCEPTIBILITY 1; GLM1GLIOMA OF BRAIN, FAMILIAL, INCLUDED; GLM, INCLUDED;;GLIOBLASTOMA MULTIFORME, INCLUDED; GBM, INCLUDED;;ASTROCYTOMA, INCLUDED;;OLIGODENDROGLIOMA, INCLUDED;;EPENDYMOMA, INCLUDED;;SUBEPENDYMOMA, INCLUDED					HP:0001428	Somatic mutation			TAS	TAS						OMIM-CS:INHERITANCE > SOMATIC MUTATION	OMIM:137800	HPO:skoehler	Jan 21, 2013	
+OMIM:137800	#137800 GLIOMA SUSCEPTIBILITY 1; GLM1GLIOMA OF BRAIN, FAMILIAL, INCLUDED; GLM, INCLUDED;;GLIOBLASTOMA MULTIFORME, INCLUDED; GBM, INCLUDED;;ASTROCYTOMA, INCLUDED;;OLIGODENDROGLIOMA, INCLUDED;;EPENDYMOMA, INCLUDED;;SUBEPENDYMOMA, INCLUDED					HP:0009592	Astrocytoma			TAS	TAS						OMIM-CS:NEOPLASIA > ASTROCYTOMAS	OMIM:137800	HPO:skoehler	Jan 22, 2013	
+OMIM:137800	#137800 GLIOMA SUSCEPTIBILITY 1; GLM1GLIOMA OF BRAIN, FAMILIAL, INCLUDED; GLM, INCLUDED;;GLIOBLASTOMA MULTIFORME, INCLUDED; GBM, INCLUDED;;ASTROCYTOMA, INCLUDED;;OLIGODENDROGLIOMA, INCLUDED;;EPENDYMOMA, INCLUDED;;SUBEPENDYMOMA, INCLUDED					HP:0002888	Ependymoma			TAS	TAS						OMIM-CS:NEOPLASIA > EPENDYMOMAS	OMIM:137800	HPO:skoehler	Jan 22, 2013	
+OMIM:137800	#137800 GLIOMA SUSCEPTIBILITY 1; GLM1GLIOMA OF BRAIN, FAMILIAL, INCLUDED; GLM, INCLUDED;;GLIOBLASTOMA MULTIFORME, INCLUDED; GBM, INCLUDED;;ASTROCYTOMA, INCLUDED;;OLIGODENDROGLIOMA, INCLUDED;;EPENDYMOMA, INCLUDED;;SUBEPENDYMOMA, INCLUDED					HP:0100843	Glioblastoma			TAS	TAS						OMIM-CS:NEOPLASIA > GLIOBLASTOMA MULTIFORME	OMIM:137800	HPO:skoehler	Jan 22, 2013	
+OMIM:137800	#137800 GLIOMA SUSCEPTIBILITY 1; GLM1GLIOMA OF BRAIN, FAMILIAL, INCLUDED; GLM, INCLUDED;;GLIOBLASTOMA MULTIFORME, INCLUDED; GBM, INCLUDED;;ASTROCYTOMA, INCLUDED;;OLIGODENDROGLIOMA, INCLUDED;;EPENDYMOMA, INCLUDED;;SUBEPENDYMOMA, INCLUDED					HP:0002888	Ependymoma			TAS	TAS						OMIM-CS:NEOPLASIA > SUBEPENDYMOMAS	OMIM:137800	HPO:skoehler	Jan 22, 2013	

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-138800.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-138800.tab	2014-05-22 16:45:01 UTC (rev 5155)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-138800.tab	2014-05-24 06:32:04 UTC (rev 5156)
@@ -1,4 +1,4 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:138800	GOITER, MULTINODULAR 1					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:138800	HPO	17.02.2009
-OMIM:138800	GOITER, MULTINODULAR 1					HP:0000866	Euthyroid multinodular goiter			IEA	IEA							OMIM:138800	HPO	17.02.2009
-OMIM:138800	GOITER, MULTINODULAR 1					HP:0002895	Papillary thyroid carcinoma			IEA	IEA							OMIM:138800	HPO	17.02.2009
+Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created	
+OMIM:138800	GOITER, MULTINODULAR 1					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:138800	HPO	Feb 17, 2009	
+OMIM:138800	GOITER, MULTINODULAR 1					HP:0000866	Euthyroid multinodular goiter			IEA	IEA							OMIM:138800	HPO	Feb 17, 2009	
+OMIM:138800	GOITER, MULTINODULAR 1					HP:0002895	Papillary thyroid carcinoma			IEA	IEA							OMIM:138800	HPO	Feb 17, 2009	

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-143890.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-143890.tab	2014-05-22 16:45:01 UTC (rev 5155)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-143890.tab	2014-05-24 06:32:04 UTC (rev 5156)
@@ -1,7 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created	
-OMIM:143890	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:143890	HPO	17.02.2009	
-OMIM:143890	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT					HP:0001084	Corneal arcus			IEA	IEA							OMIM:143890	HPO	17.02.2009	
-OMIM:143890	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT					HP:0001114	Xanthelasma			IEA	IEA							OMIM:143890	HPO	17.02.2009	
-OMIM:143890	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT					HP:0003124	Hypercholesterolemia			TAS	TAS							OMIM:143890	HPO:probinson	17.02.2009	
-OMIM:143890	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT					HP:0005181	Premature coronary artery disease			IEA	IEA						In homozygotes, CAD presents in childhood	OMIM:143890	HPO	17.02.2009	
-OMIM:143890	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT					HP:0000991	Xanthomatosis			IEA	IEA						In homozygotes	OMIM:143890	HPO	16.07.2012	

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-152950.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-152950.tab	2014-05-22 16:45:01 UTC (rev 5155)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-152950.tab	2014-05-24 06:32:04 UTC (rev 5156)
@@ -17,10 +17,10 @@
 OMIM:152950	LYMPHEDEMA, MICROCEPHALY, CHORIORETINOPATHY SYNDROME					HP:0001256	Intellectual disability, mild			IEA	IEA							OMIM:152950	HPO:skoehler	Jun 20, 2010	
 OMIM:152950	LYMPHEDEMA, MICROCEPHALY, CHORIORETINOPATHY SYNDROME					HP:0005469	Flat occiput			IEA	IEA							OMIM:152950	HPO	Feb 17, 2009	
 OMIM:152950	LYMPHEDEMA, MICROCEPHALY, CHORIORETINOPATHY SYNDROME					HP:0007731	Chorioretinal dysplasia			IEA	IEA							OMIM:152950	HPO	Feb 17, 2009	
-OMIM:152950	#152950 MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTALRETARDATION; MCLMR;;MICROCEPHALY, LYMPHEDEMA, CHORIORETINAL DYSPLASIA SYNDROME;;MLCRD SYNDROME;;MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION,AUTOSOMAL DOMINANT;;CDMMR SYNDROME;;LYMPHEDEMA, MICROCEPHALY, CHORIORETINOPATHY SYNDROME;;LYMPHEDEMA AND RETINAL FOLDS WITH MICROCEPHALY AND MICROPHTHALMOS					HP:0000343	Long philtrum			IEA	IEA						OMIM-CS:HEAD AND NECK_FACE > LONG PHILTRUM	OMIM:152950	HPO:skoehler	17.10.2012
-OMIM:152950	#152950 MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTALRETARDATION; MCLMR;;MICROCEPHALY, LYMPHEDEMA, CHORIORETINAL DYSPLASIA SYNDROME;;MLCRD SYNDROME;;MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION,AUTOSOMAL DOMINANT;;CDMMR SYNDROME;;LYMPHEDEMA, MICROCEPHALY, CHORIORETINOPATHY SYNDROME;;LYMPHEDEMA AND RETINAL FOLDS WITH MICROCEPHALY AND MICROPHTHALMOS					HP:0000303	Mandibular prognathia			IEA	IEA						OMIM-CS:HEAD AND NECK_FACE > PROMINENT CHIN	OMIM:152950	HPO:skoehler	17.10.2012
-OMIM:152950	#152950 MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTALRETARDATION; MCLMR;;MICROCEPHALY, LYMPHEDEMA, CHORIORETINAL DYSPLASIA SYNDROME;;MLCRD SYNDROME;;MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION,AUTOSOMAL DOMINANT;;CDMMR SYNDROME;;LYMPHEDEMA, MICROCEPHALY, CHORIORETINOPATHY SYNDROME;;LYMPHEDEMA AND RETINAL FOLDS WITH MICROCEPHALY AND MICROPHTHALMOS					HP:0000219	Thin upper lip vermilion			IEA	IEA						OMIM-CS:HEAD AND NECK_MOUTH > THIN UPPER LIP	OMIM:152950	HPO:skoehler	17.10.2012
-OMIM:152950	#152950 MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTALRETARDATION; MCLMR;;MICROCEPHALY, LYMPHEDEMA, CHORIORETINAL DYSPLASIA SYNDROME;;MLCRD SYNDROME;;MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION,AUTOSOMAL DOMINANT;;CDMMR SYNDROME;;LYMPHEDEMA, MICROCEPHALY, CHORIORETINOPATHY SYNDROME;;LYMPHEDEMA AND RETINAL FOLDS WITH MICROCEPHALY AND MICROPHTHALMOS					HP:0007786	Lacunar retinal depigmentation			IEA	IEA	rare					OMIM-CS:HEAD AND NECK_EYES > LACUNAR RETINAL DEPIGMENTATION (RARE)	OMIM:152950	HPO:skoehler	18.11.2012
-OMIM:152950	#152950 MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTALRETARDATION; MCLMR;;MICROCEPHALY, LYMPHEDEMA, CHORIORETINAL DYSPLASIA SYNDROME;;MLCRD SYNDROME;;MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION,AUTOSOMAL DOMINANT;;CDMMR SYNDROME;;LYMPHEDEMA, MICROCEPHALY, CHORIORETINOPATHY SYNDROME;;LYMPHEDEMA AND RETINAL FOLDS WITH MICROCEPHALY AND MICROPHTHALMOS					HP:0000582	Upslanted palpebral fissure			IEA	IEA	rare					OMIM-CS:HEAD AND NECK_EYES > UPSLANTING PALPEBRAL FISSURES (IN SOME PATIENTS)	OMIM:152950	HPO:skoehler	18.11.2012
-OMIM:152950	#152950 MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTALRETARDATION; MCLMR;;MICROCEPHALY, LYMPHEDEMA, CHORIORETINAL DYSPLASIA SYNDROME;;MLCRD SYNDROME;;MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION,AUTOSOMAL DOMINANT;;CDMMR SYNDROME;;LYMPHEDEMA, MICROCEPHALY, CHORIORETINOPATHY SYNDROME;;LYMPHEDEMA AND RETINAL FOLDS WITH MICROCEPHALY AND MICROPHTHALMOS					HP:0011220	Prominent forehead			IEA	IEA	rare					OMIM-CS:HEAD AND NECK_FACE > BULGING FOREHEAD (RARE)	OMIM:152950	HPO:skoehler	18.11.2012
-OMIM:152950	#152950 MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTALRETARDATION; MCLMR;;MICROCEPHALY, LYMPHEDEMA, CHORIORETINAL DYSPLASIA SYNDROME;;MLCRD SYNDROME;;MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION,AUTOSOMAL DOMINANT;;CDMMR SYNDROME;;LYMPHEDEMA, MICROCEPHALY, CHORIORETINOPATHY SYNDROME;;LYMPHEDEMA AND RETINAL FOLDS WITH MICROCEPHALY AND MICROPHTHALMOS					HP:0200086	Thin upper lip			IEA	IEA						OMIM-CS:HEAD AND NECK_MOUTH > THIN UPPER LIP	OMIM:152950	HPO:skoehler	04.06.2013
+OMIM:152950	#152950 MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTALRETARDATION; MCLMR;;MICROCEPHALY, LYMPHEDEMA, CHORIORETINAL DYSPLASIA SYNDROME;;MLCRD SYNDROME;;MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION,AUTOSOMAL DOMINANT;;CDMMR SYNDROME;;LYMPHEDEMA, MICROCEPHALY, CHORIORETINOPATHY SYNDROME;;LYMPHEDEMA AND RETINAL FOLDS WITH MICROCEPHALY AND MICROPHTHALMOS					HP:0000343	Long philtrum			IEA	IEA						OMIM-CS:HEAD AND NECK_FACE > LONG PHILTRUM	OMIM:152950	HPO:skoehler	Oct 17, 2012	
+OMIM:152950	#152950 MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTALRETARDATION; MCLMR;;MICROCEPHALY, LYMPHEDEMA, CHORIORETINAL DYSPLASIA SYNDROME;;MLCRD SYNDROME;;MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION,AUTOSOMAL DOMINANT;;CDMMR SYNDROME;;LYMPHEDEMA, MICROCEPHALY, CHORIORETINOPATHY SYNDROME;;LYMPHEDEMA AND RETINAL FOLDS WITH MICROCEPHALY AND MICROPHTHALMOS					HP:0000303	Mandibular prognathia			IEA	IEA						OMIM-CS:HEAD AND NECK_FACE > PROMINENT CHIN	OMIM:152950	HPO:skoehler	Oct 17, 2012	
+OMIM:152950	#152950 MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTALRETARDATION; MCLMR;;MICROCEPHALY, LYMPHEDEMA, CHORIORETINAL DYSPLASIA SYNDROME;;MLCRD SYNDROME;;MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION,AUTOSOMAL DOMINANT;;CDMMR SYNDROME;;LYMPHEDEMA, MICROCEPHALY, CHORIORETINOPATHY SYNDROME;;LYMPHEDEMA AND RETINAL FOLDS WITH MICROCEPHALY AND MICROPHTHALMOS					HP:0000219	Thin upper lip vermilion			IEA	IEA						OMIM-CS:HEAD AND NECK_MOUTH > THIN UPPER LIP	OMIM:152950	HPO:skoehler	Oct 17, 2012	
+OMIM:152950	#152950 MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTALRETARDATION; MCLMR;;MICROCEPHALY, LYMPHEDEMA, CHORIORETINAL DYSPLASIA SYNDROME;;MLCRD SYNDROME;;MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION,AUTOSOMAL DOMINANT;;CDMMR SYNDROME;;LYMPHEDEMA, MICROCEPHALY, CHORIORETINOPATHY SYNDROME;;LYMPHEDEMA AND RETINAL FOLDS WITH MICROCEPHALY AND MICROPHTHALMOS					HP:0007786	Lacunar retinal depigmentation			IEA	IEA	rare					OMIM-CS:HEAD AND NECK_EYES > LACUNAR RETINAL DEPIGMENTATION (RARE)	OMIM:152950	HPO:skoehler	Nov 18, 2012	
+OMIM:152950	#152950 MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTALRETARDATION; MCLMR;;MICROCEPHALY, LYMPHEDEMA, CHORIORETINAL DYSPLASIA SYNDROME;;MLCRD SYNDROME;;MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION,AUTOSOMAL DOMINANT;;CDMMR SYNDROME;;LYMPHEDEMA, MICROCEPHALY, CHORIORETINOPATHY SYNDROME;;LYMPHEDEMA AND RETINAL FOLDS WITH MICROCEPHALY AND MICROPHTHALMOS					HP:0000582	Upslanted palpebral fissure			IEA	IEA	rare					OMIM-CS:HEAD AND NECK_EYES > UPSLANTING PALPEBRAL FISSURES (IN SOME PATIENTS)	OMIM:152950	HPO:skoehler	Nov 18, 2012	
+OMIM:152950	#152950 MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTALRETARDATION; MCLMR;;MICROCEPHALY, LYMPHEDEMA, CHORIORETINAL DYSPLASIA SYNDROME;;MLCRD SYNDROME;;MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION,AUTOSOMAL DOMINANT;;CDMMR SYNDROME;;LYMPHEDEMA, MICROCEPHALY, CHORIORETINOPATHY SYNDROME;;LYMPHEDEMA AND RETINAL FOLDS WITH MICROCEPHALY AND MICROPHTHALMOS					HP:0011220	Prominent forehead			IEA	IEA	rare					OMIM-CS:HEAD AND NECK_FACE > BULGING FOREHEAD (RARE)	OMIM:152950	HPO:skoehler	Nov 18, 2012	
+OMIM:152950	#152950 MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTALRETARDATION; MCLMR;;MICROCEPHALY, LYMPHEDEMA, CHORIORETINAL DYSPLASIA SYNDROME;;MLCRD SYNDROME;;MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION,AUTOSOMAL DOMINANT;;CDMMR SYNDROME;;LYMPHEDEMA, MICROCEPHALY, CHORIORETINOPATHY SYNDROME;;LYMPHEDEMA AND RETINAL FOLDS WITH MICROCEPHALY AND MICROPHTHALMOS					HP:0200086	Thin upper lip			IEA	IEA						OMIM-CS:HEAD AND NECK_MOUTH > THIN UPPER LIP	OMIM:152950	HPO:skoehler	Jun 4, 2013	

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-156590.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-156590.tab	2014-05-22 16:45:01 UTC (rev 5155)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-156590.tab	2014-05-24 06:32:04 UTC (rev 5156)
@@ -1,6 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:156590	CHORIORETINAL DYSPLASIA-MICROCEPHALY-MENTAL RETARDATION SYNDROMEMICROCEPHALY WITH CHORIORETINOPATHY, AUTOSOMAL DOMINANT, INCLUDED					HP:0000252	Microcephaly			IEA	IEA							OMIM:156590	HPO	17.02.2009
-OMIM:156590	CHORIORETINAL DYSPLASIA-MICROCEPHALY-MENTAL RETARDATION SYNDROMEMICROCEPHALY WITH CHORIORETINOPATHY, AUTOSOMAL DOMINANT, INCLUDED					HP:0001145	Chorioretinopathy			IEA	IEA							OMIM:156590	HPO	17.02.2009
-OMIM:156590	CHORIORETINAL DYSPLASIA-MICROCEPHALY-MENTAL RETARDATION SYNDROMEMICROCEPHALY WITH CHORIORETINOPATHY, AUTOSOMAL DOMINANT, INCLUDED					HP:0001249	Intellectual disability			IEA	IEA							OMIM:156590	HPO	17.02.2009
-OMIM:156590	CHORIORETINAL DYSPLASIA-MICROCEPHALY-MENTAL RETARDATION SYNDROMEMICROCEPHALY WITH CHORIORETINOPATHY, AUTOSOMAL DOMINANT, INCLUDED					HP:0002007	Frontal bossing			IEA	IEA							OMIM:156590	HPO	17.02.2009
-OMIM:156590	CHORIORETINAL DYSPLASIA-MICROCEPHALY-MENTAL RETARDATION SYNDROMEMICROCEPHALY WITH CHORIORETINOPATHY, AUTOSOMAL DOMINANT, INCLUDED					HP:0007786	Lacunar retinal depigmentation			IEA	IEA							OMIM:156590	HPO	17.02.2009

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[Obo-svn-commit] SF.net SVN: obo:[5155] uberon/releases/2014-05-22/

[<cmu...@us...>]

Revision: 5155
          http://sourceforge.net/p/obo/svn/5155
Author:   cmungall
Date:     2014-05-22 16:45:01 +0000 (Thu, 22 May 2014)
Log Message:
-----------
new release

Added Paths:
-----------
    uberon/releases/2014-05-22/

This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.

[Obo-svn-commit] SF.net SVN: obo:[5153] uberon/releases/2014-05-16/

[<cmu...@us...>]

Revision: 5153
          http://sourceforge.net/p/obo/svn/5153
Author:   cmungall
Date:     2014-05-17 01:17:42 +0000 (Sat, 17 May 2014)
Log Message:
-----------
new release

Added Paths:
-----------
    uberon/releases/2014-05-16/

This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.

[Obo-svn-commit] SF.net SVN: obo:[5151] uberon/trunk/bridge

[<cmu...@us...>]

Revision: 5151
          http://sourceforge.net/p/obo/svn/5151
Author:   cmungall
Date:     2014-05-13 21:44:27 +0000 (Tue, 13 May 2014)
Log Message:
-----------
new

Added Paths:
-----------
    uberon/trunk/bridge/uberon-bridge-to-nifstd.obo
    uberon/trunk/bridge/uberon-bridge-to-nifstd.owl

Added: uberon/trunk/bridge/uberon-bridge-to-nifstd.obo
===================================================================
--- uberon/trunk/bridge/uberon-bridge-to-nifstd.obo	                        (rev 0)
+++ uberon/trunk/bridge/uberon-bridge-to-nifstd.obo	2014-05-13 21:44:27 UTC (rev 5151)
@@ -0,0 +1,4462 @@
+ontology: uberon/bridge/uberon-bridge-to-nifstd
+
+[Term]
+id: UBERON:0005725 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_090806 ! Olfactory system
+
+[Term]
+id: UBERON:0001997 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_2703 ! Olfactory epithelium
+
+[Term]
+id: UBERON:0000007 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1353 ! Hypophysis
+
+[Term]
+id: UBERON:0000010 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1111 ! Peripheral nervous system
+
+[Term]
+id: UBERON:0002410 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1123 ! Autonomic nervous system
+
+[Term]
+id: UBERON:0000011 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_2517 ! Parasympathetic nervous system
+
+[Term]
+id: UBERON:0000013 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_2516 ! Sympathetic nervous system
+
+[Term]
+id: UBERON:0000012 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_100301 ! Somatic peripheral nervous system
+
+[Term]
+id: UBERON:0000019 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1169 ! Eye
+
+[Term]
+id: UBERON:0000033 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1230 ! Head
+
+[Term]
+id: UBERON:0000044 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_2596 ! Dorsal root ganglion
+
+[Term]
+id: UBERON:0000125 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_28443
+
+[Term]
+id: UBERON:0000045 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_100302 ! Ganglion
+
+[Term]
+id: UBERON:0000052 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_705 ! Fornix
+
+[Term]
+id: UBERON:0000053 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_2540 ! Macula
+
+[Term]
+id: UBERON:0000062 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_4 ! Organ
+
+[Term]
+id: UBERON:0000064 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_16
+
+[Term]
+id: UBERON:0000073 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1157 ! Part of nervous system
+
+[Term]
+id: UBERON:0000119 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_149357
+
+[Term]
+id: UBERON:0000120 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_subcell_100205
+
+[Term]
+id: UBERON:0000121 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_090205 ! Perineurium
+
+[Term]
+id: UBERON:0000123 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_090202 ! Endoneurium
+
+[Term]
+id: UBERON:0000124 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_090203 ! Epineurium
+
+[Term]
+id: UBERON:0002868 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_2639 ! Commissural nucleus of vagus nerve
+
+[Term]
+id: UBERON:0002870 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_2642 ! Dorsal motor nucleus of vagus nerve
+
+[Term]
+id: UBERON:0001719 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_2650 ! Nucleus ambiguus
+
+[Term]
+id: UBERON:0001950 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_2547 ! Neocortex
+
+[Term]
+id: UBERON:0000349 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/UBERON_0000349
+
+[Term]
+id: UBERON:0002435 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1672 ! Striatum
+
+[Term]
+id: UBERON:0005382 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_1010001 ! Dorsal Striatum
+
+[Term]
+id: UBERON:0005383 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_100312 ! caudoputamen
+
+[Term]
+id: UBERON:0001873 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1373 ! Caudate nucleus
+
+[Term]
+id: UBERON:0001874 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_809 ! Putamen
+
+[Term]
+id: UBERON:0009641 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_1010011 ! Ansa lenticularis
+
+[Term]
+id: UBERON:0009643 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_1010012 ! Central tegmental tract
+
+[Term]
+id: UBERON:0000435 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1206 ! Lateral tuberal nuclear complex
+
+[Term]
+id: UBERON:0001384 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_143555
+
+[Term]
+id: UBERON:0000451 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_090801 ! Prefrontal cortex
+
+[Term]
+id: UBERON:0006314 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_20 ! Bodily fluid
+
+[Term]
+id: UBERON:0000467 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_14 ! Body system
+
+[Term]
+id: UBERON:0000468 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_18 ! Body
+
+[Term]
+id: UBERON:0000475 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_7
+
+[Term]
+id: UBERON:0000479 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_19 ! Tissue
+
+[Term]
+id: UBERON:0000935 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1557 ! Anterior commissure
+
+[Term]
+id: UBERON:0003039 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_969
+
+[Term]
+id: UBERON:0003043 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_977 ! Posterior part of anterior commissure
+
+[Term]
+id: UBERON:0001909 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1609 ! Habenular commissure
+
+[Term]
+id: UBERON:0000936 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1026 ! Posterior commissure
+
+[Term]
+id: UBERON:0000908 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_746 ! Commissure of fornix
+
+[Term]
+id: UBERON:0002336 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1087 ! Corpus callosum
+
+[Term]
+id: UBERON:0002240 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1709 ! Spinal cord
+
+[Term]
+id: UBERON:0001908 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1684 ! Optic tract
+
+[Term]
+id: UBERON:0000959 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1416 ! Optic chiasm
+
+[Term]
+id: UBERON:0000941 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1640 ! Optic nerve
+
+[Term]
+id: UBERON:0000955 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_796 ! Brain
+
+[Term]
+id: UBERON:0000956 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1494 ! Cerebral cortex
+
+[Term]
+id: UBERON:0002961 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_787
+
+[Term]
+id: UBERON:0000962 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_20090207 ! Cervical spinal nerve
+
+[Term]
+id: UBERON:0000966 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1153 ! Retina
+
+[Term]
+id: UBERON:0000988 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_733 ! Pons
+
+[Term]
+id: UBERON:0001016 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_844 ! Nervous system
+
+[Term]
+id: UBERON:0001017 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1099 ! Central nervous system
+
+[Term]
+id: UBERON:0001032 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_090816 ! Sensory system
+
+[Term]
+id: UBERON:0001033 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_090803 ! Gustatory system
+
+[Term]
+id: UBERON:0001062 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_6
+
+[Term]
+id: UBERON:0001062 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_6 ! Anatomical entity
+
+[Term]
+id: UBERON:0001063 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1329 ! Flocculus
+
+[Term]
+id: UBERON:0001948 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1496 ! Regional part of spinal cord
+
+[Term]
+id: UBERON:0005844 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_2665 ! Axial regional part of spinal cord
+
+[Term]
+id: UBERON:0002726 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1499 ! Cervical spinal cord
+
+[Term]
+id: UBERON:0003038 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_966 ! Thoracic spinal cord
+
+[Term]
+id: UBERON:0002792 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1704 ! Lumbar spinal cord
+
+[Term]
+id: UBERON:0005843 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1275 ! Sacral spinal cord
+
+[Term]
+id: UBERON:0007714 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1688 ! Segment part of cervical spinal cord
+
+[Term]
+id: UBERON:0007715 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_892 ! Segment part of thoracic spinal cord
+
+[Term]
+id: UBERON:0007716 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1652 ! Segment part of lumbar spinal cord
+
+[Term]
+id: UBERON:0007717 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1512 ! Segment part of sacral spinal cord
+
+[Term]
+id: UBERON:0001322 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1133 ! Sciatic nerve
+
+[Term]
+id: UBERON:0001359 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1798 ! Cerebral Spinal Fluid
+
+[Term]
+id: UBERON:0001579 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1319 ! Olfactory nerve
+
+[Term]
+id: UBERON:0001643 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1646 ! Oculomotor nerve
+
+[Term]
+id: UBERON:0002668 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1323 ! Oculomotor nerve fibers
+
+[Term]
+id: UBERON:0001644 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1654 ! Trochlear nerve
+
+[Term]
+id: UBERON:0001645 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_869 ! Trigeminal nerve
+
+[Term]
+id: UBERON:0001646 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_876 ! Abducens nerve
+
+[Term]
+id: UBERON:0001647 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_827 ! Facial nerve
+
+[Term]
+id: UBERON:0001648 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_890 ! Vestibulocochlear nerve
+
+[Term]
+id: UBERON:0001649 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_899 ! Glossopharyngeal nerve
+
+[Term]
+id: UBERON:0001650 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_820 ! Hypoglossal nerve
+
+[Term]
+id: UBERON:0001690 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1062 ! Ear
+
+[Term]
+id: UBERON:0016490 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_090817 ! Auditory system
+
+[Term]
+id: UBERON:0004681 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_090819 ! Vestibular system
+
+[Term]
+id: UBERON:0006585 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_2519 ! Vestibular organ
+
+[Term]
+id: UBERON:0001691 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1705 ! Outer ear
+
+[Term]
+id: UBERON:0004674 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1513 ! Facial nerve root
+
+[Term]
+id: UBERON:0002827 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_2564 ! Auditory ganglion
+
+[Term]
+id: UBERON:0002824 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_2549 ! Vestibular ganglion
+
+[Term]
+id: UBERON:0002825 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_2551 ! Superior part of vestibular ganglion
+
+[Term]
+id: UBERON:0002826 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_2552 ! Inferior part of vestibular ganglion
+
+[Term]
+id: UBERON:0001715 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1240 ! Oculomotor nuclear complex
+
+[Term]
+id: UBERON:0002701 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1445 ! Anterior median oculomotor nucleus
+
+[Term]
+id: UBERON:0002934 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_713 ! Ventral oculomotor nucleus
+
+[Term]
+id: UBERON:0002975 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_813 ! Medial oculomotor nucleus
+
+[Term]
+id: UBERON:0002970 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_803 ! Intermediate oculomotor nucleus
+
+[Term]
+id: UBERON:0002964 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_793 ! Dorsal oculomotor nucleus
+
+[Term]
+id: UBERON:0002141 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_822 ! Parvocellular oculomotor nucleus
+
+[Term]
+id: UBERON:0002610 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1151 ! Cochlear nuclear complex
+
+[Term]
+id: UBERON:0002673 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1337 ! Vestibular nuclear complex
+
+[Term]
+id: UBERON:0001727 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nifext_14 ! Taste bud
+
+[Term]
+id: UBERON:0001727 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_4101 ! Taste bud
+
+[Term]
+id: UBERON:0001726 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_4102 ! Lingual papilla
+
+[Term]
+id: UBERON:0000396 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_4106_2 ! Circumvallate papilla
+
+[Term]
+id: UBERON:0002926 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nifext_12
+
+[Term]
+id: UBERON:0014452 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_4099 ! Gustatory epithelium
+
+[Term]
+id: UBERON:0001756 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1695 ! Middle ear
+
+[Term]
+id: UBERON:0001759 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_801 ! Vagus nerve
+
+[Term]
+id: UBERON:0011213 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1456 ! Vagus nerve root
+
+[Term]
+id: UBERON:0001785 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1623 ! Cranial nerve
+
+[Term]
+id: UBERON:0001786 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_2543 ! Fovea
+
+[Term]
+id: UBERON:0001791 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_1005031 ! Retina inner nuclear layer
+
+[Term]
+id: UBERON:0001792 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_1005030 ! Retina ganglion cell layer
+
+[Term]
+id: UBERON:0001795 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_1005032 ! Retina inner plexiform layer
+
+[Term]
+id: UBERON:0001808 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_100303 ! Parasympathetic ganglion
+
+[Term]
+id: UBERON:0001833 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/UBERON_0001833
+
+[Term]
+id: UBERON:0001846 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1196 ! Inner ear
+
+[Term]
+id: UBERON:0001855 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_2562 ! Cochlea duct
+
+[Term]
+id: UBERON:0001855 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_2562 ! Cochlea duct
+
+[Term]
+id: UBERON:0001844 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1190 ! Cochlea
+
+[Term]
+id: UBERON:0001869 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1042 ! Cerebrum
+
+[Term]
+id: UBERON:0002812 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1795 ! Left cerebral hemisphere
+
+[Term]
+id: UBERON:0002813 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1797 ! Right cerebral hemisphere
+
+[Term]
+id: UBERON:0016526 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_922 ! Lobe parts of cerebral cortex
+
+[Term]
+id: UBERON:0016525 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_928 ! Frontal lobe
+
+[Term]
+id: UBERON:0001870 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_20090601 ! Frontal cortex
+
+[Term]
+id: UBERON:0001871 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1160 ! Temporal lobe
+
+[Term]
+id: UBERON:0001872 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1148 ! Parietal lobe
+
+[Term]
+id: UBERON:0002778 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1674 ! Ventral pallidum
+
+[Term]
+id: UBERON:0001875 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1234 ! Globus pallidus
+
+[Term]
+id: UBERON:0001876 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1241 ! Amygdala
+
+[Term]
+id: UBERON:0001878 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_730 ! Septofimbrial nucleus
+
+[Term]
+id: UBERON:0001879 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_719 ! Nucleus of diagonal band
+
+[Term]
+id: UBERON:0001880 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_724 ! Nucleus of stria terminalis
+
+[Term]
+id: UBERON:0001881 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1113 ! Islands of Calleja
+
+[Term]
+id: UBERON:0001882 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_727 ! Nucleus accumbens
+
+[Term]
+id: UBERON:0012170 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_20090306 ! Core of nucleus accumbens
+
+[Term]
+id: UBERON:0012171 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_20090307 ! Shell of nucleus accumbens
+
+[Term]
+id: UBERON:0001885 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1178 ! Dentate gyrus
+
+[Term]
+id: UBERON:0001887 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1659 ! Internal capsule
+
+[Term]
+id: UBERON:0014526 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_144257 ! Anterior limb of internal capsule
+
+[Term]
+id: UBERON:0014527 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_144258 ! Posterior limb of internal capsule
+
+[Term]
+id: UBERON:0014528 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_1010014 ! Extreme capsule
+
+[Term]
+id: UBERON:0002298 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1565 ! Brainstem
+
+[Term]
+id: UBERON:0002028 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_942 ! Hindbrain
+
+[Term]
+id: UBERON:0002037 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1489 ! Cerebellum
+
+[Term]
+id: UBERON:0001890 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1509 ! Forebrain
+
+[Term]
+id: UBERON:0001891 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1667 ! Midbrain
+
+[Term]
+id: UBERON:0001893 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1115 ! Telencephalon
+
+[Term]
+id: UBERON:0001894 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1503 ! Diencephalon
+
+[Term]
+id: UBERON:0001895 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_965 ! Metencephalon
+
+[Term]
+id: UBERON:0001896 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_957 ! Medulla oblongata
+
+[Term]
+id: UBERON:0001897 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_954 ! Thalamus
+
+[Term]
+id: UBERON:0001900 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_708 ! Subthalamus
+
+[Term]
+id: UBERON:0001898 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_734 ! Hypothalamus
+
+[Term]
+id: UBERON:0001899 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1710 ! Epithalamus
+
+[Term]
+id: UBERON:0001903 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1721 ! Thalamic reticular nucleus
+
+[Term]
+id: UBERON:0001904 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1611 ! Habenula
+
+[Term]
+id: UBERON:0001905 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1184 ! Pineal body
+
+[Term]
+id: UBERON:0001905 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_1010009 ! Pineal gland
+
+[Term]
+id: UBERON:0001906 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_1010002 ! Subthalamic nucleus
+
+[Term]
+id: UBERON:0001910 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_908 ! Medial forebrain bundle
+
+[Term]
+id: UBERON:0014529 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_1010015 ! Lenticular fasciculus
+
+[Term]
+id: UBERON:0001921 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_770 ! Reuniens nucleus
+
+[Term]
+id: UBERON:0001922 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_952 ! Parafascicular nucleus
+
+[Term]
+id: UBERON:0001923 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_971 ! Central medial nucleus
+
+[Term]
+id: UBERON:0001924 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_981 ! Paracentral nucleus
+
+[Term]
+id: UBERON:0001925 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1237 ! Ventral lateral nucleus
+
+[Term]
+id: UBERON:0001926 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1662 ! Lateral geniculate body
+
+[Term]
+id: UBERON:0001927 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1670 ! Medial geniculate body
+
+[Term]
+id: UBERON:0001928 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1706 ! Preoptic area
+
+[Term]
+id: UBERON:0002035 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_706 ! Medial preoptic nucleus
+
+[Term]
+id: UBERON:0002625 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1208 ! Median preoptic nucleus
+
+[Term]
+id: UBERON:0001931 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1722 ! Lateral preoptic nucleus
+
+[Term]
+id: UBERON:0002622 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1201 ! Preoptic periventricular nucleus
+
+[Term]
+id: UBERON:0002705 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1462 ! Midline nuclear group
+
+[Term]
+id: UBERON:0001920 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_764 ! Paraventricular nucleus of thalamus
+
+[Term]
+id: UBERON:0001930 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1407 ! Paraventricular nucleus of hypothalamus
+
+[Term]
+id: UBERON:0001932 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1638 ! Arcuate nucleus of hypothalamus
+
+[Term]
+id: UBERON:0002865 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_2635 ! Arcuate nucleus of medulla
+
+[Term]
+id: UBERON:0001933 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1569 ! Retrochiasmatic area
+
+[Term]
+id: UBERON:0001934 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1558 ! Dorsomedial nucleus of hypothalamus
+
+[Term]
+id: UBERON:0001935 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1572 ! Ventromedial nucleus of hypothalamus
+
+[Term]
+id: UBERON:0001936 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1271 ! Tuberomammillary nucleus
+
+[Term]
+id: UBERON:0001937 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1199 ! Lateral hypothalamic nucleus
+
+[Term]
+id: UBERON:0001938 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1460 ! Lateral mammillary nucleus
+
+[Term]
+id: UBERON:0001939 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1299 ! Medial mammillary nucleus
+
+[Term]
+id: UBERON:0001940 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1479 ! Supramammillary nucleus
+
+[Term]
+id: UBERON:0001941 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1438 ! Lateral habenular nucleus
+
+[Term]
+id: UBERON:0001942 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1431 ! Medial habenular nucleus
+
+[Term]
+id: UBERON:0002635 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1227 ! Regional part of midbrain tegmentum
+
+[Term]
+id: UBERON:0001943 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1200 ! Midbrain tegmentum
+
+[Term]
+id: UBERON:0001944 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_703 ! Pretectal region
+
+[Term]
+id: UBERON:0002140 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1007 ! Parabigeminal nucleus
+
+[Term]
+id: UBERON:0002314 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1032 ! Midbrain tectum
+
+[Term]
+id: UBERON:0001945 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1040 ! Superior colliculus
+
+[Term]
+id: UBERON:0001946 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_806 ! Inferior colliculus
+
+[Term]
+id: UBERON:0002580 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1065 ! Brachium of superior colliculus
+
+[Term]
+id: UBERON:0003025 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_929 ! Brachium of inferior colliculus
+
+[Term]
+id: UBERON:0002583 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1073 ! Commissure of superior colliculus
+
+[Term]
+id: UBERON:0006783 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_1005033 ! Cytoarchitectural part of superior colliculus
+
+[Term]
+id: UBERON:0006786 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1023 ! Predominantly white regional part of superior colliculus
+
+[Term]
+id: UBERON:0006120 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_1005034 ! Superior colliculus superficial gray layer
+
+[Term]
+id: UBERON:0001947 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1478 ! Red nucleus
+
+[Term]
+id: UBERON:0002421 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_715 ! Hippocampal formation
+
+[Term]
+id: UBERON:0001954 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_721 ! Hippocampus
+
+[Term]
+id: UBERON:0003881 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1197 ! CA1
+
+[Term]
+id: UBERON:0003882 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1362 ! CA2
+
+[Term]
+id: UBERON:0003883 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1204 ! CA3
+
+[Term]
+id: UBERON:0001965 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_990 ! Substantia nigra pars compacta
+
+[Term]
+id: UBERON:0001966 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_968 ! Substantia nigra pars reticulata
+
+[Term]
+id: UBERON:0001981 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_090901 ! Blood vessel
+
+[Term]
+id: UBERON:0001982 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_090902 ! Capillary
+
+[Term]
+id: UBERON:0002005 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1166 ! Enteric nervous system
+
+[Term]
+id: UBERON:0002019 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_812 ! Accessory nerve
+
+[Term]
+id: UBERON:0002021 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1136 ! Occipital lobe
+
+[Term]
+id: UBERON:0002022 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1117 ! Insula
+
+[Term]
+id: UBERON:0002023 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1522 ! Claustrum
+
+[Term]
+id: UBERON:0002729 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1515 ! Claustral amygdaloid area
+
+[Term]
+id: UBERON:0006098 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1629 ! Basal nuclear complex
+
+[Term]
+id: UBERON:0002034 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1325 ! Suprachiasmatic nucleus
+
+[Term]
+id: UBERON:0002038 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_789 ! Substantia nigra
+
+[Term]
+id: UBERON:0002044 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_896 ! Nucleus of Darkschewitsch
+
+[Term]
+id: UBERON:0002045 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_2640 ! Cuneate nucleus
+
+[Term]
+id: UBERON:0002058 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_100304 ! Ciliary ganglion
+
+[Term]
+id: UBERON:0002102 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/UBERON_0002102
+
+[Term]
+id: UBERON:0002104 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/FMAID_7191
+
+[Term]
+id: UBERON:0002718 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1483 ! Solitary tract
+
+[Term]
+id: UBERON:0009050 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1429 ! Solitary nucleus
+
+[Term]
+id: UBERON:0002127 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1164 ! Inferior olivary complex
+
+[Term]
+id: UBERON:0002128 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1307 ! Superior olivary complex
+
+[Term]
+id: UBERON:0002158 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_20081248 ! Principal olivary nucleus
+
+[Term]
+id: UBERON:0007249 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_100310 ! Dorsal accessory olive
+
+[Term]
+id: UBERON:0002782 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1682 ! Medial superior olivary nucleus
+
+[Term]
+id: UBERON:0002779 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1675 ! Lateral superior olivary nucleus
+
+[Term]
+id: UBERON:0002129 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1566 ! Cerebellar cortex
+
+[Term]
+id: UBERON:0002138 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1504 ! Fasciculus retroflexus
+
+[Term]
+id: UBERON:0002139 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1028 ! Subcommissural organ
+
+[Term]
+id: UBERON:0002142 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1437 ! Pedunculopontine tegmental nucleus
+
+[Term]
+id: UBERON:0002143 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_992 ! Dorsal tegmental nucleus
+
+[Term]
+id: UBERON:0014568 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_20090407 ! Dorsal tegmental nucleus pars dorsalis
+
+[Term]
+id: UBERON:0014569 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_20090408 ! Dorsal tegmental nucleus pars ventralis
+
+[Term]
+id: UBERON:0002144 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1474 ! Peripeduncular nucleus
+
+[Term]
+id: UBERON:0002145 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1000 ! Interpeduncular nucleus
+
+[Term]
+id: UBERON:0002147 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_882 ! Reticulotegmental nucleus
+
+[Term]
+id: UBERON:0002148 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_905 ! Locus ceruleus
+
+[Term]
+id: UBERON:0002149 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1131 ! Superior salivatory nucleus
+
+[Term]
+id: UBERON:0002153 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1146 ! Fastigial nucleus
+
+[Term]
+id: UBERON:0002155 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_1005001 ! Nucleus gigantocellularis
+
+[Term]
+id: UBERON:0002160 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_2652 ! Nucleus prepositus
+
+[Term]
+id: UBERON:0002161 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_2643 ! Gracile nucleus
+
+[Term]
+id: UBERON:0002162 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_2636 ! Area postrema
+
+[Term]
+id: UBERON:0002164 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_750 ! Tectobulbar tract
+
+[Term]
+id: UBERON:0002181 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_2674
+
+[Term]
+id: UBERON:0002191 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1305 ! Subiculum
+
+[Term]
+id: UBERON:0002196 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1581 ! Adenohypophysis
+
+[Term]
+id: UBERON:0002648 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1264 ! Anterior median eminence
+
+[Term]
+id: UBERON:0002652 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1280 ! Posterior median eminence
+
+[Term]
+id: UBERON:0002197 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_925 ! Median eminence
+
+[Term]
+id: UBERON:0002198 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1586 ! Neurohypophysis
+
+[Term]
+id: UBERON:0003217 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_941 ! Pars nervosa of hypophysis
+
+[Term]
+id: UBERON:0002211 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_144250
+
+[Term]
+id: UBERON:0002219 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_100314 ! Subfornical organ
+
+[Term]
+id: UBERON:0002233 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_2531 ! Tectorial membrane of spiral organ of cochlea
+
+[Term]
+id: UBERON:0002226 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_2521 ! Basilar membrane
+
+[Term]
+id: UBERON:0002227 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_2526 ! Spiral organ of Corti
+
+[Term]
+id: UBERON:0002246 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_20090102 ! Clarke's Nuclei
+
+[Term]
+id: UBERON:0014370 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_200905010 ! Extrastriate cortex
+
+[Term]
+id: UBERON:0009121 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_1005018 ! Vomeronasal nerve
+
+[Term]
+id: UBERON:0002256 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_2667 ! Spinal cord dorsal horn
+
+[Term]
+id: UBERON:0002257 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_2668 ! Spinal cord ventral horn
+
+[Term]
+id: UBERON:0005839 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1442 ! Thoracic spinal cord dorsal column
+
+[Term]
+id: UBERON:0005840 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1514 ! Sacral spinal cord dorsal column
+
+[Term]
+id: UBERON:0005841 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_736 ! Cervical spinal cord dorsal column
+
+[Term]
+id: UBERON:0005842 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_834 ! Lumbar spinal cord dorsal column
+
+[Term]
+id: UBERON:0004676 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_2666 ! Spinal cord lateral horn
+
+[Term]
+id: UBERON:0005847 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1439 ! Thoracic spinal cord lateral column
+
+[Term]
+id: UBERON:0005848 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1587 ! Sacral spinal cord lateral column
+
+[Term]
+id: UBERON:0005849 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_729 ! Cervical spinal cord lateral column
+
+[Term]
+id: UBERON:0005850 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_828 ! Lumbar spinal cord lateral column
+
+[Term]
+id: UBERON:0005852 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1448 ! Thoracic spinal cord ventral column
+
+[Term]
+id: UBERON:0005853 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1520 ! Sacral spinal cord ventral column
+
+[Term]
+id: UBERON:0005854 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1660 ! Cervical spinal cord ventral column
+
+[Term]
+id: UBERON:0005855 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_840 ! Lumbar spinal cord ventral column
+
+[Term]
+id: UBERON:0002653 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1282 ! Gracile fasciculus of medulla
+
+[Term]
+id: UBERON:0002642 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1242 ! Cuneate fasciculus of medulla
+
+[Term]
+id: UBERON:0002260 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_20090209 ! Ventral root
+
+[Term]
+id: UBERON:0002261 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_20090208 ! Dorsal root
+
+[Term]
+id: UBERON:0002261 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_20090208 ! Dorsal root
+
+[Term]
+id: UBERON:0009630 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_836 ! Nerve root part of thoracic spinal cord
+
+[Term]
+id: UBERON:0009631 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1613 ! Nerve root part of lumbar spinal cord
+
+[Term]
+id: UBERON:0009632 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_955 ! Nerve root part of cervical spinal cord
+
+[Term]
+id: UBERON:0009633 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1518 ! Nerve root part of sacral spinal cord
+
+[Term]
+id: UBERON:0002265 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1663 ! Olfactory tract
+
+[Term]
+id: UBERON:0001888 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1559 ! Lateral olfactory stria
+
+[Term]
+id: UBERON:0001883 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1096 ! Anterior perforated substance
+
+[Term]
+id: UBERON:0001883 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_1005037 ! Olfactory tubercle
+
+[Term]
+id: UBERON:0002893 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_2702 ! Nucleus of lateral olfactory tract
+
+[Term]
+id: UBERON:0002266 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1085 ! Anterior olfactory nucleus
+
+[Term]
+id: UBERON:0002559 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1020 ! Medullary reticular formation
+
+[Term]
+id: UBERON:0002573 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1050 ! Pontine reticular formation
+
+[Term]
+id: UBERON:0002639 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1235 ! Midbrain reticular formation
+
+[Term]
+id: UBERON:0002154 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_20081246 ! Lateral reticular nucleus
+
+[Term]
+id: UBERON:0002282 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_2525 ! Stria Vascularis
+
+[Term]
+id: UBERON:0002285 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1263 ! Lateral ventricle
+
+[Term]
+id: UBERON:0002286 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_714 ! Third ventricle
+
+[Term]
+id: UBERON:0002287 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_144280
+
+[Term]
+id: UBERON:0002289 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1261 ! Cerebral aqueduct
+
+[Term]
+id: UBERON:0002721 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1487 ! Lateral sulcus
+
+[Term]
+id: UBERON:0002737 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1540 ! Lateral inferior limiting sulcus
+
+[Term]
+id: UBERON:0002291 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1409
+
+[Term]
+id: UBERON:0014538 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_717 ! Regional part of spinal cord central canal
+
+[Term]
+id: UBERON:0014539 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1033 ! Precommissural fornix
+
+[Term]
+id: UBERON:0014541 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1395 ! Thoracic spinal cord central canal
+
+[Term]
+id: UBERON:0014542 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1511 ! Cervical spinal cord central canal
+
+[Term]
+id: UBERON:0014543 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1604 ! Lumbar spinal cord central canal
+
+[Term]
+id: UBERON:0014547 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_1010008 ! Sacral spinal cord central canal
+
+[Term]
+id: UBERON:0014544 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_4000 ! Frontomarginal sulcus
+
+[Term]
+id: UBERON:0004130 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_880  ! Cytoarchitectural part of the cerebellar cortex
+
+[Term]
+id: UBERON:0002956 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_779 ! Granular layer of cerebellar cortex
+
+[Term]
+id: UBERON:0002979 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_818 ! Purkinje cell layer of cerebellar cortex
+
+[Term]
+id: UBERON:0002974 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_810 ! Molecular layer of cerebellar cortex
+
+[Term]
+id: UBERON:0008829 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_797 ! Outer granular layer of cerebellar cortex
+
+[Term]
+id: UBERON:0008830 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_790 ! Inner granular layer of cerebellar cortex
+
+[Term]
+id: UBERON:0005390 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_090807 ! Neocortex layer 1 
+
+[Term]
+id: UBERON:0005391 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_090808 ! Neocortex layer 2
+
+[Term]
+id: UBERON:0005392 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_090809 ! Neocortex layer 3
+
+[Term]
+id: UBERON:0005393 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_090810 ! Neocortex layer 4
+
+[Term]
+id: UBERON:0005394 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_090811 ! Neocortex layer 5
+
+[Term]
+id: UBERON:0005395 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_090812 ! Neocortex layer 6
+
+[Term]
+id: UBERON:0002310 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1502 ! Fimbria of hippocampus
+
+[Term]
+id: UBERON:0002305 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1192 ! Cytoarchitectural fields of hippocampal formation
+
+[Term]
+id: UBERON:0007639 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1510 ! Alveus
+
+[Term]
+id: UBERON:0005371 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_4113 ! Stratum oriens
+
+[Term]
+id: UBERON:0002313 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1444 ! Stratum pyramidale hippocampi
+
+[Term]
+id: UBERON:0007637 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_4108 ! Stratum lucidum
+
+[Term]
+id: UBERON:0005372 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1298 ! Stratum radiatum
+
+[Term]
+id: UBERON:0007640 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1359 ! Stratum lacunosum moleculare
+
+[Term]
+id: UBERON:0005368 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1211 ! Hippocampal molecular layer
+
+[Term]
+id: UBERON:0002315 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_100204 ! Spinal cord grey matter
+
+[Term]
+id: UBERON:0002316 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/Class_2 ! White matter
+
+[Term]
+id: UBERON:0002316 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_101177 ! White matter
+
+[Term]
+id: UBERON:0002317 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1562 ! Cerebellar white matter
+
+[Term]
+id: UBERON:0002360 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_090204 ! Meninx
+
+[Term]
+id: UBERON:0000391 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_090207 ! Leptomeninx
+
+[Term]
+id: UBERON:0002361 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_090209 ! Pial membrane
+
+[Term]
+id: UBERON:0002362 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_090208 ! Arachnoid membrane
+
+[Term]
+id: UBERON:0002362 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_090208 ! Arachnoid membrane
+
+[Term]
+id: UBERON:0002363 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_090206 ! Dura mater
+
+[Term]
+id: UBERON:0002389 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_20090602 ! Finger
+
+[Term]
+id: UBERON:0002398 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_20090603 ! Hand
+
+[Term]
+id: UBERON:0010009 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_20090509 ! Aggregate regional part of brain
+
+[Term]
+id: UBERON:0010011 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_826 ! Basal ganglia
+
+[Term]
+id: UBERON:0010010 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1107 ! basal nucleus
+
+[Term]
+id: UBERON:0002430 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_4037 ! Lateral hypothalamic area
+
+[Term]
+id: UBERON:0006964 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1022 ! Distal part of hypophysis
+
+[Term]
+id: UBERON:0002954 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_777 ! Dorsal hypothalamic area
+
+[Term]
+id: UBERON:0002555 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1015 ! Intermediate hypothalamic region
+
+[Term]
+id: UBERON:0002434 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_912 ! Tuberal part of hypophysis
+
+[Term]
+id: UBERON:0002436 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1748 ! Brodmann (1909) area 17
+
+[Term]
+id: UBERON:0002436 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_143552 ! Primary visual cortex
+
+[Term]
+id: UBERON:0002437 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_711 ! Cerebral white matter
+
+[Term]
+id: UBERON:0002438 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1421 ! Ventral tegmental nucleus
+
+[Term]
+id: UBERON:0002439 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_100306 ! Myenteric Plexus
+
+[Term]
+id: UBERON:0002448 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_4106 ! Fungiform papilla
+
+[Term]
+id: UBERON:0002467 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_4104 ! Filiform papilla
+
+[Term]
+id: UBERON:0002468 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_4105 ! Foliate papilla
+
+[Term]
+id: UBERON:0001020 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_110 ! Commissure
+
+[Term]
+id: UBERON:0001020 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/nlx_anat_20090513 ! Commissure
+
+[Term]
+id: UBERON:0002623 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1202 ! Cerebral peduncle
+
+[Term]
+id: UBERON:0002474 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_970 ! Cerebellar penducular complex
+
+[Term]
+id: UBERON:0002152 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1529 ! Middle cerebellar peduncle
+
+[Term]
+id: UBERON:0002163 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1691 ! Inferior cerebellar peduncle
+
+[Term]
+id: UBERON:0002150 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1711 ! Superior cerebellar peduncle
+
+[Term]
+id: UBERON:0007707 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1162 ! Superior cerebellar peduncle of midbrain
+
+[Term]
+id: UBERON:0007709 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_1726 ! Superior cerebellar peduncle of pons
+
+[Term]
+id: UBERON:0002588 ! uberon/bridge/uberon-bridge-to-nifstd
+equivalent_to: http://uri.neuinfo.org/nif/nifstd/birnlex_...
 
[truncated message content]

[Obo-svn-commit] SF.net SVN: obo:[5150] phenote/trunk/conf

[<nl...@us...>]

Revision: 5150
          http://sourceforge.net/p/obo/svn/5150
Author:   nlw
Date:     2014-05-12 16:49:23 +0000 (Mon, 12 May 2014)
Log Message:
-----------
modified UDP config to include genes

Modified Paths:
--------------
    phenote/trunk/conf/UDP_fish.cfg
    phenote/trunk/conf/UDP_fly.cfg

Modified: phenote/trunk/conf/UDP_fish.cfg
===================================================================
--- phenote/trunk/conf/UDP_fish.cfg	2014-05-09 09:25:32 UTC (rev 5149)
+++ phenote/trunk/conf/UDP_fish.cfg	2014-05-12 16:49:23 UTC (rev 5150)
@@ -8,7 +8,7 @@
   <ns:log config-file="conf/log4j-standalone.xml"/>
   <ns:uvic-graph enable="false"/>
   <ns:term-history enable="false"/>
-  <ns:auto-update-ontologies enable="true"/>
+  <ns:auto-update-ontologies enable="false"/>
   <!--true=update; false=don't update-->
   <ns:update-timer timer="0"/>
   <!--set to 0 if you want to bypass the check; time in seconds-->
@@ -18,14 +18,24 @@
   <!--******************** FIELD DEFINITIONS ***********************-->
 
 
-  <ns:field name="UDP ID" datatag="PUB" enable="true" tab="Genotype"/>
-  <ns:field name="Genotype ID" type="FREE_TEXT" datatag="GENOID" enable="true" tab="Genotype"/>
-  <ns:field name="Genotype Label" type="FREE_TEXT" datatag="GENOLABEL" enable="true" tab="Genotype"/>
+  <ns:field name="UDP Patient ID" datatag="PAT" enable="true" tab="Human"/>
+  <ns:field name="UDP Variant ID" datatag="VAR" enable="true" tab="Human"/>
+  <ns:field name="Human Gene" datatag="HGENE" enable="true" tab="Human">
+    <ns:ontology name="Human Genes"
+      file="http://purl.obolibrary.org/obo/upheno/genes/ncbi_genes.obo" slim="homo_sapiens"/>
+  </ns:field>
 
-  <ns:field name="Gene ID" type="FREE_TEXT" datatag="GENEID" enable="true" tab="Genotype"/>
-  <ns:field name="Gene Label" type="FREE_TEXT" datatag="GENELABEL" enable="true" tab="Genotype"/>
-  <ns:field name="Background" type="FREE_TEXT" datatag="BKGD" enable="true" tab="Genotype"/>
+  <ns:field name="Model Genotype ID" type="FREE_TEXT" datatag="GENOID" enable="true" tab="Model"/>
+  <ns:field name="Model Genotype Label" type="FREE_TEXT" datatag="GENOLABEL" enable="true" tab="Model"/>
 
+  <ns:field name="Model Gene" datatag="MGENE" enable="true" tab="Model">
+    <ns:ontology name="Fish Genes"
+      file="http://purl.obolibrary.org/obo/upheno/genes/ncbi_genes.obo" slim="danio_rerio"/>
+  </ns:field>
+
+  <ns:field name="Model Background" type="FREE_TEXT" datatag="BKGD" enable="true" tab="Model"/>
+  <ns:field name="Model Description" datatag="Notes" enableBigTextBox="true" enable="true" tab="Model"/>
+
   <ns:field name="Entity" datatag="E" enable="true" tab="Phenotype">
     <ns:ontology name="Relationship" is-postcomp-rel="true"
       file="http://purl.obolibrary.org/obo/ro.obo"/>
@@ -62,6 +72,7 @@
   <!--******************** REVISION HISTORY ***********************-->
   <!-- 04.15.2014 - This configuration is to capture the zebrafish phenotypes 
                     generated as models for the UDP -->
+  <!-- 05.02.2014 - Added sections for Human vs Model genes, added human variant field -->
   <ns:field name="Date Created" enable="true" desc="Date this annotation was created"
     isVisible="false"/>
 </ns:phenote-configuration>

Modified: phenote/trunk/conf/UDP_fly.cfg
===================================================================
--- phenote/trunk/conf/UDP_fly.cfg	2014-05-09 09:25:32 UTC (rev 5149)
+++ phenote/trunk/conf/UDP_fly.cfg	2014-05-12 16:49:23 UTC (rev 5150)
@@ -18,14 +18,24 @@
   <!--******************** FIELD DEFINITIONS ***********************-->
 
 
-  <ns:field name="UDP ID" datatag="PUB" enable="true" tab="Genotype"/>
-  <ns:field name="Genotype ID" type="FREE_TEXT" datatag="GENOID" enable="true" tab="Genotype"/>
-  <ns:field name="Genotype Label" type="FREE_TEXT" datatag="GENOLABEL" enable="true" tab="Genotype"/>
+  <ns:field name="UDP Patient ID" datatag="PAT" enable="true" tab="Human"/>
+  <ns:field name="UDP Variant ID" datatag="VAR" enable="true" tab="Human"/>
+  <ns:field name="Human Gene" datatag="HGENE" enable="true" tab="Human">
+    <ns:ontology name="Human Genes"
+	  file="http://purl.obolibrary.org/obo/upheno/genes/ncbi_genes.obo" slim="homo_sapiens"/>
+  </ns:field>
 
-  <ns:field name="Gene ID" type="FREE_TEXT" datatag="GENEID" enable="true" tab="Genotype"/>
-  <ns:field name="Gene Label" type="FREE_TEXT" datatag="GENELABEL" enable="true" tab="Genotype"/>
-  <ns:field name="Background" type="FREE_TEXT" datatag="BKGD" enable="true" tab="Genotype"/>
+  <ns:field name="Model Genotype ID" type="FREE_TEXT" datatag="GENOID" enable="true" tab="Model"/>
+  <ns:field name="Model Genotype Label" type="FREE_TEXT" datatag="GENOLABEL" enable="true" tab="Model"/>
 
+  <ns:field name="Model Gene" datatag="MGENE" enable="true" tab="Model">
+    <ns:ontology name="Fly Genes"
+	  file="http://purl.obolibrary.org/obo/upheno/genes/ncbi_genes.obo" slim="drosophila_melanogaster"/>
+  </ns:field>
+  <ns:field name="Model Background" type="FREE_TEXT" datatag="BKGD" enable="true" tab="Model"/>
+  <ns:field name="Model Description" datatag="Notes" enableBigTextBox="true" enable="true" tab="Model"/>
+
+
   <ns:field name="Entity" datatag="E" enable="true" tab="Phenotype">
     <ns:ontology name="Relationship" is-postcomp-rel="true"
       file="http://purl.obolibrary.org/obo/ro.obo"/>
@@ -52,7 +62,6 @@
     <ns:ontology name="FBdv"
       file="http://purl.obolibrary.org/obo/fbdv/fbdv-simple.obo" />
   </ns:field>
- 
 
   <ns:field name="Abnormal" datatag="Tag" enable="true" tab="Phenotype" />
   <ns:field name="Phenotype Desc" datatag="Desc" enableBigTextBox="true" enable="true" tab="Phenotype"/>
@@ -60,8 +69,10 @@
   <ns:field name="Curator Notes" datatag="Notes" enableBigTextBox="true" enable="true" tab="Notes"/>
   
   <!--******************** REVISION HISTORY ***********************-->
-  <!-- 04.15.2014 - This configuration is to capture the zebrafish phenotypes 
+  <!-- 04.15.2014 - This configuration is to capture the drosophila phenotypes 
                     generated as models for the UDP -->
+  <!-- 05.12.2014 - Updated to include human and fly gene identifiers -->
+
   <ns:field name="Date Created" enable="true" desc="Date this annotation was created"
     isVisible="false"/>
 </ns:phenote-configuration>

This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.

[Obo-svn-commit] SF.net SVN: obo:[5149] phenotype-commons/annotations/OMIM/by-disease/ annotated

[<koe...@us...>]

Revision: 5149
          http://sourceforge.net/p/obo/svn/5149
Author:   koehlers
Date:     2014-05-09 09:25:32 +0000 (Fri, 09 May 2014)
Log Message:
-----------


Modified Paths:
--------------
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-133780.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-192315.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601813.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613310.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615656.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615688.tab

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-133780.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-133780.tab	2014-05-09 08:02:22 UTC (rev 5148)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-133780.tab	2014-05-09 09:25:32 UTC (rev 5149)
@@ -11,3 +11,4 @@
 OMIM:133780	EXUDATIVE VITREORETINOPATHY 1					HP:0007902	Vitreous hemorrhage			IEA	IEA							OMIM:133780	HPO	17.02.2009	
 OMIM:133780	EXUDATIVE VITREORETINOPATHY 1					HP:0008021	Partial-total retinal detachment			IEA	IEA							OMIM:133780	HPO	17.02.2009	
 OMIM:133780	#133780 EXUDATIVE VITREORETINOPATHY 1; EVR1;;EXUDATIVE VITREORETINOPATHY, FAMILIAL, AUTOSOMAL DOMINANT;;FEVR, AUTOSOMAL DOMINANT;;CRISWICK-SCHEPENS SYNDROMERETINOPATHY OF PREMATURITY, INCLUDED; ROP, INCLUDED					HP:0002757	Recurrent fractures			IEA	IEA						OMIM-CS:SKELETAL > INCREASED FRACTURE RATE	OMIM:133780	HPO:skoehler	17.10.2012
+OMIM:133780	#133780 EXUDATIVE VITREORETINOPATHY 1; EVR1;;EXUDATIVE VITREORETINOPATHY, FAMILIAL, AUTOSOMAL DOMINANT;;FEVR, AUTOSOMAL DOMINANT;;CRISWICK-SCHEPENS SYNDROMERETINOPATHY OF PREMATURITY, INCLUDED; ROP, INCLUDED					HP:0001146	Pigmentary retinal degeneration			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > RETINAL EXUDATES	OMIM:133780	HPO:skoehler	09.05.2014

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-192315.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-192315.tab	2014-05-09 08:02:22 UTC (rev 5148)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-192315.tab	2014-05-09 09:25:32 UTC (rev 5149)
@@ -29,3 +29,4 @@
 OMIM:192315	#192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL;;CEREBRORETINAL VASCULOPATHY, HEREDITARY; CRV;;RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUDAND MIGRAINE PHENOMENA					HP:0000529	Progressive visual loss			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > DECREASED VISUAL ACUITY, PROGRESSIVE	OMIM:192315	HPO:skoehler	May 31, 2013	
 OMIM:192315	VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY					HP:0200029	Vasculitis in the skin			TAS	TAS							OMIM:192315	HPO:probinson	Nov 23, 2013	
 OMIM:192315	VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY					HP:0002518	Abnormality of the periventricular white matter			TAS	TAS							OMIM:192315	HPO:probinson	Nov 23, 2013	
+OMIM:192315	#192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL;;CEREBRORETINAL VASCULOPATHY, HEREDITARY; CRV;;RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUDAND MIGRAINE PHENOMENA					HP:0001146	Pigmentary retinal degeneration			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > RETINAL EXUDATES	OMIM:192315	HPO:skoehler	09.05.2014

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601813.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601813.tab	2014-05-09 08:02:22 UTC (rev 5148)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601813.tab	2014-05-09 09:25:32 UTC (rev 5149)
@@ -12,3 +12,4 @@
 OMIM:601813	EXUDATIVE VITREORETINOPATHY 4					HP:0007811	Horizontal pendular nystagmus			TAS	TAS							OMIM:601813	HPO:probinson	Feb 17, 2009	
 OMIM:601813	EXUDATIVE VITREORETINOPATHY 4					HP:0007902	Vitreous hemorrhage			TAS	TAS							OMIM:601813	HPO:probinson	Feb 17, 2009	
 OMIM:601813	EXUDATIVE VITREORETINOPATHY 4					HP:0007917	Tractional retinal detachment			IEA	IEA							OMIM:601813	HPO	Feb 17, 2009	
+OMIM:601813	#601813 EXUDATIVE VITREORETINOPATHY 4; EVR4					HP:0001146	Pigmentary retinal degeneration			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > RETINAL EXUDATES	OMIM:601813	HPO:skoehler	09.05.2014

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613310.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613310.tab	2014-05-09 08:02:22 UTC (rev 5148)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613310.tab	2014-05-09 09:25:32 UTC (rev 5149)
@@ -4,3 +4,4 @@
 OMIM:613310	#613310 EXUDATIVE VITREORETINOPATHY 5; EVR5					HP:0000594	Shallow anterior chamber			IEA	IEA	rare					OMIM-CS:HEAD AND NECK_EYES > SHALLOW ANTERIOR CHAMBER (IN SOME PATIENTS)	OMIM:613310	HPO:skoehler	13.04.2014
 OMIM:613310	#613310 EXUDATIVE VITREORETINOPATHY 5; EVR5					HP:0007917	Tractional retinal detachment			IEA	IEA	rare					OMIM-CS:HEAD AND NECK_EYES > TRACTIONAL RETINAL DETACHMENT (IN SOME PATIENTS)	OMIM:613310	HPO:skoehler	13.04.2014
 OMIM:613310	#613310 EXUDATIVE VITREORETINOPATHY 5; EVR5					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT	OMIM:613310	HPO:skoehler	13.04.2014
+OMIM:613310	#613310 EXUDATIVE VITREORETINOPATHY 5; EVR5					HP:0001146	Pigmentary retinal degeneration			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > RETINAL EXUDATES	OMIM:613310	HPO:skoehler	09.05.2014

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615656.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615656.tab	2014-05-09 08:02:22 UTC (rev 5148)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615656.tab	2014-05-09 09:25:32 UTC (rev 5149)
@@ -16,3 +16,4 @@
 OMIM:615656	#615656 CHROMOSOME 15q11.2 DELETION SYNDROME					HP:0001249	Intellectual disability			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTELLECTUAL DISABILITY	OMIM:615656	HPO:skoehler	13.04.2014
 OMIM:615656	#615656 CHROMOSOME 15q11.2 DELETION SYNDROME					HP:0001250	Seizures			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES	OMIM:615656	HPO:skoehler	13.04.2014
 OMIM:615656	#615656 CHROMOSOME 15q11.2 DELETION SYNDROME					HP:0000750	Delayed speech and language development			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SPEECH DELAY	OMIM:615656	HPO:skoehler	13.04.2014
+OMIM:615656	#615656 CHROMOSOME 15q11.2 DELETION SYNDROME					HP:0001238	Slender finger			IEA	IEA						OMIM-CS:SKELETAL_HANDS > SLENDER FINGERS	OMIM:615656	HPO:skoehler	09.05.2014

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615688.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615688.tab	2014-05-09 08:02:22 UTC (rev 5148)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615688.tab	2014-05-09 09:25:32 UTC (rev 5149)
@@ -25,3 +25,4 @@
 OMIM:615688	#615688 POLYARTERITIS NODOSA; PAN;;ADA2 DEFICIENCY					HP:0000965	Cutis marmorata			IEA	IEA						OMIM-CS:SKIN, NAILS, HAIR_SKIN > LIVEDO RETICULARIS	OMIM:615688	HPO:skoehler	13.04.2014
 OMIM:615688	#615688 POLYARTERITIS NODOSA; PAN;;ADA2 DEFICIENCY					HP:0012490	Panniculitis			IEA	IEA						OMIM-CS:SKIN, NAILS, HAIR_SKIN > PANNICULITIS	OMIM:615688	HPO:skoehler	13.04.2014
 OMIM:615688	#615688 POLYARTERITIS NODOSA; PAN;;ADA2 DEFICIENCY					HP:0000979	Purpura			IEA	IEA						OMIM-CS:SKIN, NAILS, HAIR_SKIN > PURPURA	OMIM:615688	HPO:skoehler	13.04.2014
+OMIM:615688	#615688 POLYARTERITIS NODOSA; PAN;;ADA2 DEFICIENCY					HP:0002617	Aneurysm			IEA	IEA						OMIM-CS:CARDIOVASCULAR_VASCULAR > ANEURYSMS	OMIM:615688	HPO:skoehler	09.05.2014

This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.

[Obo-svn-commit] SF.net SVN: obo:[5148] phenotype-commons/annotations/OMIM/by-disease/ annotated

[<koe...@us...>]

Revision: 5148
          http://sourceforge.net/p/obo/svn/5148
Author:   koehlers
Date:     2014-05-09 08:02:22 +0000 (Fri, 09 May 2014)
Log Message:
-----------
annotation updates

Modified Paths:
--------------
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-123550.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137210.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-193700.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-214150.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-214400.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-215150.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-220120.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-242840.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-249400.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-272460.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-278750.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300373.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300895.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-302800.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600430.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602588.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-605039.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606070.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606703.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608013.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609166.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609304.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610048.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610198.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611816.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612126.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612621.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613159.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613206.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613454.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613832.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614096.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614115.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614613.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614706.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614947.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615398.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615476.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615574.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615636.tab

Added Paths:
-----------
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-120433.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602400.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609218.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614340.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615010.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615120.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615704.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615705.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615707.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615709.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615723.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615724.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615725.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615735.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615774.tab

Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-120433.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-120433.tab	                        (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-120433.tab	2014-05-09 08:02:22 UTC (rev 5148)
@@ -0,0 +1,9 @@
+Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
+OMIM:120433	#120433 COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE,AND/OR MENTAL RETARDATION					HP:0000790	Hematuria			IEA	IEA	rare					OMIM-CS:GENITOURINARY_KIDNEYS > HEMATURIA (IN SOME PATIENTS)	OMIM:120433	HPO:skoehler	04.05.2014
+OMIM:120433	#120433 COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE,AND/OR MENTAL RETARDATION					HP:0000518	Cataract			IEA	IEA	rare					OMIM-CS:HEAD AND NECK_EYES > CATARACT (IN SOME PATIENTS)	OMIM:120433	HPO:skoehler	04.05.2014
+OMIM:120433	#120433 COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE,AND/OR MENTAL RETARDATION					HP:0000568	Microphthalmos			IEA	IEA	rare					OMIM-CS:HEAD AND NECK_EYES > MICROPHTHALMIA (IN SOME PATIENTS)	OMIM:120433	HPO:skoehler	04.05.2014
+OMIM:120433	#120433 COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE,AND/OR MENTAL RETARDATION					HP:0000508	Ptosis			IEA	IEA	rare					OMIM-CS:HEAD AND NECK_EYES > PTOSIS (RARE)	OMIM:120433	HPO:skoehler	04.05.2014
+OMIM:120433	#120433 COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE,AND/OR MENTAL RETARDATION					HP:0000204	Cleft upper lip			IEA	IEA	rare					OMIM-CS:HEAD AND NECK_MOUTH > CLEFT LIP (IN SOME PATIENTS)	OMIM:120433	HPO:skoehler	04.05.2014
+OMIM:120433	#120433 COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE,AND/OR MENTAL RETARDATION					HP:0000175	Cleft palate			IEA	IEA	rare					OMIM-CS:HEAD AND NECK_MOUTH > CLEFT PALATE (IN SOME PATIENTS)	OMIM:120433	HPO:skoehler	04.05.2014
+OMIM:120433	#120433 COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE,AND/OR MENTAL RETARDATION					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT	OMIM:120433	HPO:skoehler	04.05.2014
+OMIM:120433	#120433 COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE,AND/OR MENTAL RETARDATION					HP:0001249	Intellectual disability			IEA	IEA	rare					OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION (IN SOME PATIENTS)	OMIM:120433	HPO:skoehler	04.05.2014


Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-120433.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-123550.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-123550.tab	2014-05-08 23:40:59 UTC (rev 5147)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-123550.tab	2014-05-09 08:02:22 UTC (rev 5148)
@@ -8,3 +8,4 @@
 OMIM:123550	CRYOGLOBULINEMIA, FAMILIAL MIXED					HP:0003259	Increased creatinine			IEA	IEA							OMIM:123550	HPO	17.02.2009	
 OMIM:123550	CRYOGLOBULINEMIA, FAMILIAL MIXED					HP:0012050	Anasarca			TAS	TAS							OMIM:123550	HPO:skoehler	17.02.2009	
 OMIM:123550	%123550 CRYOGLOBULINEMIA, FAMILIAL MIXED;;MELTZER SYNDROME					HP:0100778	Cryoglobulinemia			IEA	IEA						OMIM-CS:HEME > CRYOGLOBULINEMIA	OMIM:123550	HPO:skoehler	17.10.2012
+OMIM:123550	%123550 CRYOGLOBULINEMIA, FAMILIAL MIXED;;MELTZER SYNDROME					HP:0012622	Chronic kidney disease			IEA	IEA						OMIM-CS:GU > LOSS OF RENAL FUNCTION	OMIM:123550	HPO:skoehler	04.05.2014

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137210.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137210.tab	2014-05-08 23:40:59 UTC (rev 5147)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137210.tab	2014-05-09 08:02:22 UTC (rev 5148)
@@ -1,3 +1,4 @@
 Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
 OMIM:137210	GASTRIC VOLVULUS, INTRATHORACIC					HP:0002036	Hiatus hernia			IEA	IEA							OMIM:137210	HPO	17.02.2009
 OMIM:137210	GASTRIC VOLVULUS, INTRATHORACIC					HP:0002580	Volvulus			IEA	IEA							OMIM:137210	HPO:skoehler	20.06.2010
+OMIM:137210	137210 GASTRIC VOLVULUS, INTRATHORACIC					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT	OMIM:137210	HPO:skoehler	04.05.2014

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-193700.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-193700.tab	2014-05-08 23:40:59 UTC (rev 5147)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-193700.tab	2014-05-09 08:02:22 UTC (rev 5148)
@@ -52,3 +52,4 @@
 OMIM:193700	#193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A;;FREEMAN-SHELDON SYNDROME; FSS;;WHISTLING FACE-WINDMILL VANE HAND SYNDROME;;CRANIOCARPOTARSAL DYSTROPHY;;CRANIOCARPOTARSAL DYSPLASIA					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:MISCELLANEOUS > AUTOSOMAL RECESSIVE FORM (277720) HAS ALSO BEEN DESCRIBED	OMIM:193700	HPO:skoehler	Nov 26, 2012	
 OMIM:193700	#193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A;;FREEMAN-SHELDON SYNDROME; FSS;;WHISTLING FACE-WINDMILL VANE HAND SYNDROME;;CRANIOCARPOTARSAL DYSTROPHY;;CRANIOCARPOTARSAL DYSPLASIA					HP:0001324	Muscle weakness			IEA	IEA						OMIM-CS:MUSCLE, SOFT TISSUE_MUSCLE > MILD MUSCLE WEAKNESS	OMIM:193700	HPO:skoehler	Nov 26, 2012	
 OMIM:193700	#193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A;;FREEMAN-SHELDON SYNDROME; FSS;;WHISTLING FACE-WINDMILL VANE HAND SYNDROME;;CRANIOCARPOTARSAL DYSTROPHY;;CRANIOCARPOTARSAL DYSPLASIA					HP:0012368	Flat face			IEA	IEA						OMIM-CS:HEAD AND NECK_FACE > FLAT FACE	OMIM:193700	HPO:skoehler	22.10.2013
+OMIM:193700	#193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A;;FREEMAN-SHELDON SYNDROME; FSS;;WHISTLING FACE-WINDMILL VANE HAND SYNDROME;;CRANIOCARPOTARSAL DYSTROPHY;;CRANIOCARPOTARSAL DYSPLASIA					HP:0012385	Camptodactyly			IEA	IEA						OMIM-CS:SKELETAL_HANDS > CAMPTODACTYLY	OMIM:193700	HPO:skoehler	04.05.2014

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-214150.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-214150.tab	2014-05-08 23:40:59 UTC (rev 5147)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-214150.tab	2014-05-09 08:02:22 UTC (rev 5148)
@@ -35,3 +35,4 @@
 OMIM:214150	#214150 CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1;;COFS SYNDROME; COFS;;PENA-SHOKEIR SYNDROME, TYPE II					HP:0002804	Arthrogryposis multiplex congenita			IEA	IEA						OMIM-CS:SKELETAL > ARTHROGRYPOSIS	OMIM:214150	HPO:skoehler	17.10.2012
 OMIM:214150	#214150 CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1;;COFS SYNDROME; COFS;;PENA-SHOKEIR SYNDROME, TYPE II					HP:0012385	Camptodactyly			IEA	IEA						OMIM-CS:SKELETAL_HANDS > CAMPTODACTYLY	OMIM:214150	HPO:skoehler	22.10.2013
 OMIM:214150	#214150 CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1;;COFS SYNDROME; COFS;;PENA-SHOKEIR SYNDROME, TYPE II					HP:0012448	Delayed myelination			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED MYELINATION	OMIM:214150	HPO:skoehler	28.11.2013
+OMIM:214150	#214150 CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1;;COFS SYNDROME; COFS;;PENA-SHOKEIR SYNDROME, TYPE II					HP:0000407	Sensorineural hearing impairment			IEA	IEA						OMIM-CS:HEAD AND NECK_EARS > SENSORINEURAL HEARING LOSS	OMIM:214150	HPO:skoehler	04.05.2014

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-214400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-214400.tab	2014-05-08 23:40:59 UTC (rev 5147)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-214400.tab	2014-05-09 08:02:22 UTC (rev 5148)
@@ -21,3 +21,4 @@
 OMIM:214400	#214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A;;CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE;;CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4A					HP:0001425	Heterogeneous			IEA	IEA						OMIM-CS:MISCELLANEOUS > GENETIC HETEROGENEITY	MIM:214400	HPO:skoehler	Feb 25, 2013	
 OMIM:214400	#214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A;;CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE;;CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4A					HP:0002936	Distal sensory impairment			IEA	IEA						OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > DISTAL SENSORY IMPAIRMENT	MIM:214400	HPO:skoehler	Feb 25, 2013	
 OMIM:214400	#214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A;;CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE;;CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4A				GDAP1	HP:0007182	Peripheral hypomyelination			TAS	TAS						OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > HYPOMYELINATION	MIM:214400	HPO:probinson	Mar 30, 2014	
+OMIM:214400	#214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A;;CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE;;CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4A					HP:0003429	CNS hypomyelination			IEA	IEA						OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > HYPOMYELINATION	OMIM:214400	HPO:skoehler	04.05.2014

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-215150.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-215150.tab	2014-05-08 23:40:59 UTC (rev 5147)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-215150.tab	2014-05-09 08:02:22 UTC (rev 5148)
@@ -27,3 +27,4 @@
 OMIM:215150	OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA					HP:0010049	Short metacarpal			IEA	IEA							OMIM:215150	HPO	Feb 17, 2009	
 OMIM:215150	#215150 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; OSMED;;CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS;;NANCE-INSLEY SYNDROME;;NANCE-SWEENEY CHONDRODYSPLASIA					HP:0011800	Midface retrusion			TAS	TAS							OMIM:215150	HPO:skoehler	Nov 28, 2013	
 OMIM:215150	#215150 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; OSMED;;CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS;;NANCE-INSLEY SYNDROME;;NANCE-SWEENEY CHONDRODYSPLASIA					HP:0002829	Arthralgia			IEA	IEA						OMIM-CS:SKELETAL_LIMBS > JOINT PAINS	OMIM:215150	HPO:skoehler	06.02.2014
+OMIM:215150	#215150 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; OSMED;;CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS;;NANCE-INSLEY SYNDROME;;NANCE-SWEENEY CHONDRODYSPLASIA					HP:0000407	Sensorineural hearing impairment			IEA	IEA						OMIM-CS:HEAD AND NECK_EARS > SENSORINEURAL HEARING LOSS	OMIM:215150	HPO:skoehler	04.05.2014

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-220120.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-220120.tab	2014-05-08 23:40:59 UTC (rev 5147)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-220120.tab	2014-05-09 08:02:22 UTC (rev 5148)
@@ -20,3 +20,4 @@
 OMIM:220120	#220120 D-GLYCERIC ACIDURIA;;D-GLYCERIC ACIDEMIA;;GLYCERATE KINASE DEFICIENCY					HP:0002179	Opisthotonus			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > OPISTHOTONUS	OMIM:220120	HPO:skoehler	17.10.2012
 OMIM:220120	#220120 D-GLYCERIC ACIDURIA;;D-GLYCERIC ACIDEMIA;;GLYCERATE KINASE DEFICIENCY					HP:0002510	Spastic tetraplegia			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SPASTIC TETRAPLEGIA	OMIM:220120	HPO:skoehler	17.10.2012
 OMIM:220120	#220120 D-GLYCERIC ACIDURIA;;D-GLYCERIC ACIDEMIA;;GLYCERATE KINASE DEFICIENCY					HP:0012448	Delayed myelination			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED MYELINATION	OMIM:220120	HPO:skoehler	28.11.2013
+OMIM:220120	#220120 D-GLYCERIC ACIDURIA;;D-GLYCERIC ACIDEMIA;;GLYCERATE KINASE DEFICIENCY					HP:0000407	Sensorineural hearing impairment			IEA	IEA	rare					OMIM-CS:HEAD AND NECK_HEAD > SENSORINEURAL HEARING LOSS (1 PATIENT)	OMIM:220120	HPO:skoehler	04.05.2014

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-242840.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-242840.tab	2014-05-08 23:40:59 UTC (rev 5147)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-242840.tab	2014-05-09 08:02:22 UTC (rev 5148)
@@ -44,3 +44,4 @@
 OMIM:242840	%242840 IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION,AND ABSENT CORPUS CALLOSUM;;VICI SYNDROME					HP:0001022	Albinism			IEA	IEA						OMIM-CS:SKIN, NAILS, HAIR_SKIN > CUTANEOUS ALBINISM	OMIM:242840	HPO:skoehler	22.01.2013
 OMIM:242840	#242840 VICI SYNDROME; VICIS;;IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION,AND ABSENT CORPUS CALLOSUM					HP:0001644	Dilated cardiomyopathy			IEA	IEA						OMIM-CS:CARDIOVASCULAR_HEART > CARDIOMYOPATHY, DILATED	OMIM:242840	HPO:skoehler	08.03.2013
 OMIM:242840	#242840 VICI SYNDROME; VICIS;;IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION,AND ABSENT CORPUS CALLOSUM					HP:0000639	Nystagmus			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > NYSTAGMUS	OMIM:242840	HPO:skoehler	08.03.2013
+OMIM:242840	#242840 VICI SYNDROME; VICIS;;IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION,AND ABSENT CORPUS CALLOSUM					HP:0000407	Sensorineural hearing impairment			IEA	IEA	rare					OMIM-CS:HEAD AND NECK_EARS > SENSORINEURAL HEARING LOSS (IN SOME PATIENTS)	OMIM:242840	HPO:skoehler	04.05.2014

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-249400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-249400.tab	2014-05-08 23:40:59 UTC (rev 5147)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-249400.tab	2014-05-09 08:02:22 UTC (rev 5148)
@@ -6,3 +6,10 @@
 OMIM:249400	MELANOSIS, NEUROCUTANEOUS					HP:0002861	Malignant melanoma			IEA	IEA							OMIM:249400	HPO	17.02.2009	
 OMIM:249400	MELANOSIS, NEUROCUTANEOUS					HP:0006824	Cranial nerve paralysis			IEA	IEA							OMIM:249400	HPO	17.02.2009	
 OMIM:249400	249400 MELANOSIS, NEUROCUTANEOUS					HP:0005603	Numerous congenital melanocytic nevi			IEA	IEA						OMIM-CS:SKIN, NAILS, HAIR > NUMEROUS CONGENITAL MELANOCYTIC NEVI	OMIM:249400	HPO:skoehler	17.10.2012
+OMIM:249400	#249400 MELANOSIS, NEUROCUTANEOUS; NCMS;;NEUROMELANOSIS					HP:0100702	Arachnoid cyst			IEA	IEA	rare					OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ARACHNOID CYSTS (IN SOME PATIENTS)	OMIM:249400	HPO:skoehler	04.05.2014
+OMIM:249400	#249400 MELANOSIS, NEUROCUTANEOUS; NCMS;;NEUROMELANOSIS					HP:0200022	Choroid plexus papilloma			IEA	IEA	rare					OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CHOROID PLEXUS PAPILLOMA (IN SOME PATIENTS)	OMIM:249400	HPO:skoehler	04.05.2014
+OMIM:249400	#249400 MELANOSIS, NEUROCUTANEOUS; NCMS;;NEUROMELANOSIS					HP:0001305	Dandy-Walker malformation			IEA	IEA	rare					OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DANDY-WALKER MALFORMATION (IN SOME PATIENTS)	OMIM:249400	HPO:skoehler	04.05.2014
+OMIM:249400	#249400 MELANOSIS, NEUROCUTANEOUS; NCMS;;NEUROMELANOSIS					HP:0001263	Global developmental delay			IEA	IEA	rare					OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED DEVELOPMENT (IN SOME PATIENTS)	OMIM:249400	HPO:skoehler	04.05.2014
+OMIM:249400	#249400 MELANOSIS, NEUROCUTANEOUS; NCMS;;NEUROMELANOSIS					HP:0000238	Hydrocephalus			IEA	IEA	rare					OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYDROCEPHALUS (IN SOME PATIENTS)	OMIM:249400	HPO:skoehler	04.05.2014
+OMIM:249400	#249400 MELANOSIS, NEUROCUTANEOUS; NCMS;;NEUROMELANOSIS					HP:0002858	Meningioma			IEA	IEA	rare					OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENINGIOMA (IN SOME PATIENTS)	OMIM:249400	HPO:skoehler	04.05.2014
+OMIM:249400	#249400 MELANOSIS, NEUROCUTANEOUS; NCMS;;NEUROMELANOSIS					HP:0003396	Syringomyelia			IEA	IEA	rare					OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SYRINGOMYELIA (IN SOME PATIENTS)	OMIM:249400	HPO:skoehler	04.05.2014

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-272460.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-272460.tab	2014-05-08 23:40:59 UTC (rev 5147)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-272460.tab	2014-05-09 08:02:22 UTC (rev 5148)
@@ -29,3 +29,4 @@
 OMIM:272460	SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME					HP:0008368	Synostosis involving tarsal bones			IEA	IEA							OMIM:272460	HPO:skoehler	18.06.2010
 OMIM:272460	SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME					HP:0008456	C2-C3 subluxation			IEA	IEA							OMIM:272460	HPO	17.02.2009
 OMIM:272460	SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME					HP:0009702	Synostosis involving the carpal bones			IEA	IEA							OMIM:272460	HPO	17.02.2009
+OMIM:272460	#272460 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME; SCT;;SPONDYLOCARPOTARSAL SYNDROME;;SYNSPONDYLISM, CONGENITAL;;VERTEBRAL FUSION WITH CARPAL COALITION;;SCOLIOSIS, CONGENITAL, WITH UNILATERAL UNSEGMENTED BAR					HP:0000407	Sensorineural hearing impairment			IEA	IEA						OMIM-CS:HEAD AND NECK_EARS > SENSORINEURAL HEARING LOSS	OMIM:272460	HPO:skoehler	04.05.2014

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-278750.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-278750.tab	2014-05-08 23:40:59 UTC (rev 5147)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-278750.tab	2014-05-09 08:02:22 UTC (rev 5148)
@@ -13,3 +13,4 @@
 MIM:278750	XERODERMA PIGMENTOSUM, VARIANT TYPE	MIM:603968	POLYMERASE, DNA, ETA		POLH	HP:0012056	Cutaneous melanoma			TAS	TAS							MIM:278750	HPO:probinson	01.08.2012	
 MIM:278750	XERODERMA PIGMENTOSUM, VARIANT TYPE	MIM:603968	POLYMERASE, DNA, ETA		POLH	HP:0000252	Microcephaly			TAS	TAS				NOT	NOT		MIM:278750	HPO:probinson	01.08.2012	
 MIM:278750	XERODERMA PIGMENTOSUM, VARIANT TYPE	MIM:603968	POLYMERASE, DNA, ETA		POLH	HP:0001510	Growth delay			TAS	TAS				NOT	NOT		MIM:278750	HPO:probinson	01.08.2012	
+OMIM:278750	#278750 XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV;;XERODERMA PIGMENTOSUM WITH NORMAL DNA REPAIR RATES;;PHOTOSENSITIVITY WITH DEFECTIVE DNA SYNTHESIS					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE	OMIM:278750	HPO:skoehler	04.05.2014

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300373.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300373.tab	2014-05-08 23:40:59 UTC (rev 5147)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300373.tab	2014-05-09 08:02:22 UTC (rev 5148)
@@ -64,3 +64,5 @@
 OMIM:300373	OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS					HP:0009473	Joint contracture of the hand			IEA	IEA							OMIM:300373	HPO	Feb 17, 2009	
 OMIM:300373	OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS					HP:0010628	Facial palsy			IEA	IEA							OMIM:300373	HPO:skoehler	Jun 18, 2010	
 OMIM:300373	OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS					HP:0200027	Contractures of the toes			IEA	IEA							OMIM:300373	HPO:skoehler	Jun 18, 2010	
+OMIM:300373	#300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS;;HYPEROSTOSIS GENERALISATA WITH STRIATIONS					HP:0012385	Camptodactyly			IEA	IEA						OMIM-CS:SKELETAL_HANDS > CAMPTODACTYLY	OMIM:300373	HPO:skoehler	04.05.2014
+OMIM:300373	#300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS;;HYPEROSTOSIS GENERALISATA WITH STRIATIONS					HP:0005464	Craniofacial osteosclerosis			IEA	IEA						OMIM-CS:SKELETAL_SKULL > CRANIAL SCLEROSIS	OMIM:300373	HPO:skoehler	04.05.2014

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300895.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300895.tab	2014-05-08 23:40:59 UTC (rev 5147)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300895.tab	2014-05-09 08:02:22 UTC (rev 5148)
@@ -20,3 +20,4 @@
 OMIM:300895	#300895 OHDO SYNDROME, X-LINKED; OHDOX;;BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, MAAT-KIEVIT-BRUNNERTYPE					HP:0001249	Intellectual disability			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION	OMIM:300895	HPO:skoehler	06.06.2013
 OMIM:300895	#300895 OHDO SYNDROME, X-LINKED; OHDOX;;BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, MAAT-KIEVIT-BRUNNERTYPE					HP:0001382	Joint hypermobility			IEA	IEA						OMIM-CS:SKELETAL_LIMBS > JOINT HYPEREXTENSIBILITY	OMIM:300895	HPO:skoehler	06.06.2013
 OMIM:300895	#300895 OHDO SYNDROME, X-LINKED; OHDOX;;BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, MAAT-KIEVIT-BRUNNERTYPE					HP:0000957	Cafe-au-lait spot			IEA	IEA						OMIM-CS:SKIN, NAILS, HAIR_SKIN > CAFE-AU-LAIT SPOTS	OMIM:300895	HPO:skoehler	06.06.2013
+OMIM:300895	#300895 OHDO SYNDROME, X-LINKED; OHDOX;;BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, MAAT-KIEVIT-BRUNNERTYPE					HP:0001419	X-linked recessive inheritance			IEA	IEA						OMIM-CS:INHERITANCE > X-LINKED RECESSIVE	OMIM:300895	HPO:skoehler	04.05.2014

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-302800.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-302800.tab	2014-05-08 23:40:59 UTC (rev 5147)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-302800.tab	2014-05-09 08:02:22 UTC (rev 5148)
@@ -30,3 +30,4 @@
 OMIM:302800	#302800 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1; CMTX1;;CMTX;;CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED;;HEREDITARY MOTOR AND SENSORY NEUROPATHY, X-LINKED;;HMSN, X-LINKED;;CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED, 1;;CMT2, FORMERLY					HP:0003487	Babinski sign			IEA	IEA	rare					OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > EXTENSOR PLANTAR RESPONSES (IN SOME PATIENTS)	OMIM:302800	HPO:skoehler	25.02.2014
 OMIM:302800	#302800 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1; CMTX1;;CMTX;;CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED;;HEREDITARY MOTOR AND SENSORY NEUROPATHY, X-LINKED;;HMSN, X-LINKED;;CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED, 1;;CMT2, FORMERLY					HP:0002395	Lower limb hyperreflexia			IEA	IEA	rare					OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPERREFLEXIA IN THE LOWER LIMBS (IN SOME PATIENTS)	OMIM:302800	HPO:skoehler	25.02.2014
 OMIM:302800	#302800 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1; CMTX1;;CMTX;;CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED;;HEREDITARY MOTOR AND SENSORY NEUROPATHY, X-LINKED;;HMSN, X-LINKED;;CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED, 1;;CMT2, FORMERLY					HP:0002311	Incoordination			IEA	IEA	rare					OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > LIMB INCOORDINATION (IN SOME PATIENTS)	OMIM:302800	HPO:skoehler	25.02.2014
+OMIM:302800	#302800 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1; CMTX1;;CMTX;;CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED;;HEREDITARY MOTOR AND SENSORY NEUROPATHY, X-LINKED;;HMSN, X-LINKED;;CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED, 1;;CMT2, FORMERLY					HP:0000407	Sensorineural hearing impairment			IEA	IEA	rare					OMIM-CS:HEAD AND NECK_EARS > SENSORINEURAL HEARING LOSS (UNCOMMON)	OMIM:302800	HPO:skoehler	04.05.2014

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600430.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600430.tab	2014-05-08 23:40:59 UTC (rev 5147)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600430.tab	2014-05-09 08:02:22 UTC (rev 5148)
@@ -24,3 +24,4 @@
 OMIM:600430	#600430 BRACHYDACTYLY-MENTAL RETARDATION SYNDROME; BDMR;;ALBRIGHT HEREDITARY OSTEODYSTROPHY-LIKE SYNDROMECHROMOSOME 2q37 DELETION SYNDROME, INCLUDED					HP:0001250	Seizures			IEA	IEA	rare					OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES (1 PATIENT)	OMIM:600430	HPO:skoehler	18.11.2012
 OMIM:600430	#600430 BRACHYDACTYLY-MENTAL RETARDATION SYNDROME; BDMR;;ALBRIGHT HEREDITARY OSTEODYSTROPHY-LIKE SYNDROMECHROMOSOME 2q37 DELETION SYNDROME, INCLUDED					HP:0000455	Broad nasal tip			IEA	IEA						OMIM-CS:HEAD AND NECK_NOSE > BROAD UPTURNED NOSE	OMIM:600430	HPO:skoehler	12.06.2013
 OMIM:600430	#600430 BRACHYDACTYLY-MENTAL RETARDATION SYNDROME; BDMR;;ALBRIGHT HEREDITARY OSTEODYSTROPHY-LIKE SYNDROMECHROMOSOME 2q37 DELETION SYNDROME, INCLUDED					HP:0011800	Midface retrusion			IEA	IEA						OMIM-CS:HEAD AND NECK_FACE > MIDFACE HYPOPLASIA	OMIM:600430	HPO:skoehler	28.11.2013
+OMIM:600430	#600430 BRACHYDACTYLY-MENTAL RETARDATION SYNDROME; BDMR;;ALBRIGHT HEREDITARY OSTEODYSTROPHY-LIKE SYNDROMECHROMOSOME 2q37 DELETION SYNDROME, INCLUDED					HP:0000407	Sensorineural hearing impairment			IEA	IEA	rare					OMIM-CS:HEAD AND NECK_EARS > SENSORINEURAL HEARING LOSS (1 PATIENT)	OMIM:600430	HPO:skoehler	04.05.2014

Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602400.tab	                        (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602400.tab	2014-05-09 08:02:22 UTC (rev 5148)
@@ -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
+OMIM:602400	#602400 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11; ARCI11;;ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE; ARIH;;ICHTHYOSIS AND FOLLICULAR ATROPHODERMA WITH HYPOTRICHOSIS AND HYPOHIDROSIS;IFAH					HP:0000498	Blepharitis			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > BLEPHARITIS	OMIM:602400	HPO:skoehler	04.05.2014
+OMIM:602400	#602400 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11; ARCI11;;ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE; ARIH;;ICHTHYOSIS AND FOLLICULAR ATROPHODERMA WITH HYPOTRICHOSIS AND HYPOHIDROSIS;IFAH					HP:0007957	Corneal opacity			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > CORNEAL OPACITY	OMIM:602400	HPO:skoehler	04.05.2014
+OMIM:602400	#602400 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11; ARCI11;;ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE; ARIH;;ICHTHYOSIS AND FOLLICULAR ATROPHODERMA WITH HYPOTRICHOSIS AND HYPOHIDROSIS;IFAH					HP:0000613	Photophobia			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > PHOTOPHOBIA	OMIM:602400	HPO:skoehler	04.05.2014
+OMIM:602400	#602400 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11; ARCI11;;ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE; ARIH;;ICHTHYOSIS AND FOLLICULAR ATROPHODERMA WITH HYPOTRICHOSIS AND HYPOHIDROSIS;IFAH					HP:0000535	Sparse eyebrow			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > SPARSE EYEBROWS	OMIM:602400	HPO:skoehler	04.05.2014
+OMIM:602400	#602400 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11; ARCI11;;ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE; ARIH;;ICHTHYOSIS AND FOLLICULAR ATROPHODERMA WITH HYPOTRICHOSIS AND HYPOHIDROSIS;IFAH					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE	OMIM:602400	HPO:skoehler	04.05.2014
+OMIM:602400	#602400 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11; ARCI11;;ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE; ARIH;;ICHTHYOSIS AND FOLLICULAR ATROPHODERMA WITH HYPOTRICHOSIS AND HYPOHIDROSIS;IFAH					HP:0002212	Curly hair			IEA	IEA						OMIM-CS:SKIN, NAILS, HAIR_HAIR > CURLY HAIR	OMIM:602400	HPO:skoehler	04.05.2014
+OMIM:602400	#602400 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11; ARCI11;;ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE; ARIH;;ICHTHYOSIS AND FOLLICULAR ATROPHODERMA WITH HYPOTRICHOSIS AND HYPOHIDROSIS;IFAH					HP:0003777	Pili torti			IEA	IEA						OMIM-CS:SKIN, NAILS, HAIR_HAIR > PILI TORTI	OMIM:602400	HPO:skoehler	04.05.2014
+OMIM:602400	#602400 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11; ARCI11;;ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE; ARIH;;ICHTHYOSIS AND FOLLICULAR ATROPHODERMA WITH HYPOTRICHOSIS AND HYPOHIDROSIS;IFAH					HP:0000535	Sparse eyebrow			IEA	IEA						OMIM-CS:SKIN, NAILS, HAIR_HAIR > SPARSE EYEBROWS	OMIM:602400	HPO:skoehler	04.05.2014
+OMIM:602400	#602400 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11; ARCI11;;ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE; ARIH;;ICHTHYOSIS AND FOLLICULAR ATROPHODERMA WITH HYPOTRICHOSIS AND HYPOHIDROSIS;IFAH					HP:0008070	Sparse hair			IEA	IEA						OMIM-CS:SKIN, NAILS, HAIR_HAIR > SPARSE HAIR	OMIM:602400	HPO:skoehler	04.05.2014
+OMIM:602400	#602400 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11; ARCI11;;ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE; ARIH;;ICHTHYOSIS AND FOLLICULAR ATROPHODERMA WITH HYPOTRICHOSIS AND HYPOHIDROSIS;IFAH					HP:0000966	Hypohidrosis			IEA	IEA	rare					OMIM-CS:SKIN, NAILS, HAIR_SKIN > HYPOHIDROSIS (IN SOME PATIENTS)	OMIM:602400	HPO:skoehler	04.05.2014
+OMIM:602400	#602400 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11; ARCI11;;ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE; ARIH;;ICHTHYOSIS AND FOLLICULAR ATROPHODERMA WITH HYPOTRICHOSIS AND HYPOHIDROSIS;IFAH					HP:0007431	Congenital ichthyosiform erythroderma			IEA	IEA						OMIM-CS:SKIN, NAILS, HAIR_SKIN > ICHTHYOSIS, CONGENITAL	OMIM:602400	HPO:skoehler	04.05.2014


Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602400.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602588.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602588.tab	2014-05-08 23:40:59 UTC (rev 5147)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602588.tab	2014-05-09 08:02:22 UTC (rev 5148)
@@ -12,3 +12,4 @@
 OMIM:602588	BRANCHIOOTIC SYNDROME 1					HP:0008554	Cochlear malformation			IEA	IEA							OMIM:602588	HPO	17.02.2009	
 OMIM:602588	BRANCHIOOTIC SYNDROME 1					HP:0008586	Hypoplasia of the cochlea			IEA	IEA							OMIM:602588	HPO	17.02.2009	
 OMIM:602588	BRANCHIOOTIC SYNDROME 1					HP:0009795	Branchial fistula			TAS	TAS							OMIM:602588	HPO:probinson	17.02.2009	
+OMIM:602588	#602588 BRANCHIOOTIC SYNDROME 1; BOS1;;BO SYNDROME 1;;BRANCHIOOTIC DYSPLASIAANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT, INCLUDED					HP:0000407	Sensorineural hearing impairment			IEA	IEA						OMIM-CS:HEAD AND NECK_EARS > SENSORINEURAL HEARING LOSS	OMIM:602588	HPO:skoehler	04.05.2014

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-605039.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-605039.tab	2014-05-08 23:40:59 UTC (rev 5147)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-605039.tab	2014-05-09 08:02:22 UTC (rev 5148)
@@ -63,3 +63,4 @@
 OMIM:605039	#605039 BOHRING-OPITZ SYNDROME; BOPS;;C-LIKE SYNDROME;;OPITZ TRIGONOCEPHALY-LIKE SYNDROME;;BOHRING SYNDROME					HP:0005026	mesomelic/rhizomelic limb shortening			IEA	IEA						OMIM-CS:SKELETAL_LIMBS > UPPER LIMB RHIZOMELIA	OMIM:605039	HPO:skoehler	Nov 21, 2012	
 OMIM:605039	#605039 BOHRING-OPITZ SYNDROME; BOPS;;C-LIKE SYNDROME;;OPITZ TRIGONOCEPHALY-LIKE SYNDROME;;BOHRING SYNDROME					HP:0012385	Camptodactyly			IEA	IEA						OMIM-CS:SKELETAL_HANDS > CAMPTODACTYLY	OMIM:605039	HPO:skoehler	22.10.2013
 OMIM:605039	#605039 BOHRING-OPITZ SYNDROME; BOPS;;C-LIKE SYNDROME;;OPITZ TRIGONOCEPHALY-LIKE SYNDROME;;BOHRING SYNDROME					HP:0002365	Hypoplasia of the brainstem			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SMALL BRAINSTEM	OMIM:605039	HPO:skoehler	04.04.2014
+OMIM:605039	#605039 BOHRING-OPITZ SYNDROME; BOPS;;C-LIKE SYNDROME;;OPITZ TRIGONOCEPHALY-LIKE SYNDROME;;BOHRING SYNDROME					HP:0000587	Abnormality of the optic nerve			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > OPTIC NERVE ABNORMALITIES	OMIM:605039	HPO:skoehler	04.05.2014

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606070.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606070.tab	2014-05-08 23:40:59 UTC (rev 5147)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606070.tab	2014-05-09 08:02:22 UTC (rev 5148)
@@ -11,3 +11,14 @@
 OMIM:606070	MYOPATHY, DISTAL 2					HP:0003805	Rimmed vacuoles			TAS	TAS							OMIM:606070	HPO:probinson	Feb 17, 2009	
 OMIM:606070	MYOPATHY, DISTAL 2					HP:0008756	Bowing of the vocal cords			IEA	IEA							OMIM:606070	HPO	Feb 17, 2009	
 OMIM:606070	MYOPATHY, DISTAL 2					HP:0003581	Adult onset			TAS	TAS							OMIM:606070	HPO:probinson	Dec 15, 2013	
+OMIM:606070	#606070 AMYOTROPHIC LATERAL SCLEROSIS 21; ALS21;;MYOPATHY, DISTAL, 2, FORMERLY; MPD2, FORMERLY;;VOCAL CORD AND PHARYNGEAL DYSFUNCTION WITH DISTAL MYOPATHY, FORMERLY;VCPDM, FORMERLY					HP:0001283	Bulbar palsy			IEA	IEA						OMIM-CS:HEAD AND NECK_FACE > BULBAR WEAKNESS	OMIM:606070	HPO:skoehler	04.05.2014
+OMIM:606070	#606070 AMYOTROPHIC LATERAL SCLEROSIS 21; ALS21;;MYOPATHY, DISTAL, 2, FORMERLY; MPD2, FORMERLY;;VOCAL CORD AND PHARYNGEAL DYSFUNCTION WITH DISTAL MYOPATHY, FORMERLY;VCPDM, FORMERLY					HP:0003828	Variable expressivity			IEA	IEA						OMIM-CS:MISCELLANEOUS > VARIABLE SEVERITY	OMIM:606070	HPO:skoehler	04.05.2014
+OMIM:606070	#606070 AMYOTROPHIC LATERAL SCLEROSIS 21; ALS21;;MYOPATHY, DISTAL, 2, FORMERLY; MPD2, FORMERLY;;VOCAL CORD AND PHARYNGEAL DYSFUNCTION WITH DISTAL MYOPATHY, FORMERLY;VCPDM, FORMERLY					HP:0007354	Amyotrophic lateral sclerosis			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > AMYOTROPHIC LATERAL SCLEROSIS	OMIM:606070	HPO:skoehler	04.05.2014
+OMIM:606070	#606070 AMYOTROPHIC LATERAL SCLEROSIS 21; ALS21;;MYOPATHY, DISTAL, 2, FORMERLY; MPD2, FORMERLY;;VOCAL CORD AND PHARYNGEAL DYSFUNCTION WITH DISTAL MYOPATHY, FORMERLY;VCPDM, FORMERLY					HP:0002483	Bulbar signs			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > BULBAR SIGNS	OMIM:606070	HPO:skoehler	04.05.2014
+OMIM:606070	#606070 AMYOTROPHIC LATERAL SCLEROSIS 21; ALS21;;MYOPATHY, DISTAL, 2, FORMERLY; MPD2, FORMERLY;;VOCAL CORD AND PHARYNGEAL DYSFUNCTION WITH DISTAL MYOPATHY, FORMERLY;VCPDM, FORMERLY					HP:0000726	Dementia			IEA	IEA	rare					OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DEMENTIA (1 FAMILY)	OMIM:606070	HPO:skoehler	04.05.2014
+OMIM:606070	#606070 AMYOTROPHIC LATERAL SCLEROSIS 21; ALS21;;MYOPATHY, DISTAL, 2, FORMERLY; MPD2, FORMERLY;;VOCAL CORD AND PHARYNGEAL DYSFUNCTION WITH DISTAL MYOPATHY, FORMERLY;VCPDM, FORMERLY					HP:0001260	Dysarthria			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DYSARTHRIA	OMIM:606070	HPO:skoehler	04.05.2014
+OMIM:606070	#606070 AMYOTROPHIC LATERAL SCLEROSIS 21; ALS21;;MYOPATHY, DISTAL, 2, FORMERLY; MPD2, FORMERLY;;VOCAL CORD AND PHARYNGEAL DYSFUNCTION WITH DISTAL MYOPATHY, FORMERLY;VCPDM, FORMERLY					HP:0001347	Hyperreflexia			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPERREFLEXIA	OMIM:606070	HPO:skoehler	04.05.2014
+OMIM:606070	#606070 AMYOTROPHIC LATERAL SCLEROSIS 21; ALS21;;MYOPATHY, DISTAL, 2, FORMERLY; MPD2, FORMERLY;;VOCAL CORD AND PHARYNGEAL DYSFUNCTION WITH DISTAL MYOPATHY, FORMERLY;VCPDM, FORMERLY					HP:0002366	Abnormality of the lower motor neuron			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > LOWER MOTOR NEURON SIGNS	OMIM:606070	HPO:skoehler	04.05.2014
+OMIM:606070	#606070 AMYOTROPHIC LATERAL SCLEROSIS 21; ALS21;;MYOPATHY, DISTAL, 2, FORMERLY; MPD2, FORMERLY;;VOCAL CORD AND PHARYNGEAL DYSFUNCTION WITH DISTAL MYOPATHY, FORMERLY;VCPDM, FORMERLY					HP:0002127	Upper motor neuron abnormality			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > UPPER MOTOR NEURON SIGNS	OMIM:606070	HPO:skoehler	04.05.2014
+OMIM:606070	#606070 AMYOTROPHIC LATERAL SCLEROSIS 21; ALS21;;MYOPATHY, DISTAL, 2, FORMERLY; MPD2, FORMERLY;;VOCAL CORD AND PHARYNGEAL DYSFUNCTION WITH DISTAL MYOPATHY, FORMERLY;VCPDM, FORMERLY					HP:0002936	Distal sensory impairment			IEA	IEA	rare					OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > DISTAL SENSORY IMPAIRMENT (1 FAMILY)	OMIM:606070	HPO:skoehler	04.05.2014
+OMIM:606070	#606070 AMYOTROPHIC LATERAL SCLEROSIS 21; ALS21;;MYOPATHY, DISTAL, 2, FORMERLY; MPD2, FORMERLY;;VOCAL CORD AND PHARYNGEAL DYSFUNCTION WITH DISTAL MYOPATHY, FORMERLY;VCPDM, FORMERLY					HP:0002747	Respiratory insufficiency due to muscle weakness			IEA	IEA						OMIM-CS:RESPIRATORY > RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS	OMIM:606070	HPO:skoehler	04.05.2014

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606703.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606703.tab	2014-05-08 23:40:59 UTC (rev 5147)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606703.tab	2014-05-09 08:02:22 UTC (rev 5148)
@@ -7,3 +7,9 @@
 OMIM:606703	#606703 DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA; FDFM					HP:0001635	Congestive heart failure			IEA	IEA	rare					OMIM-CS:CARDIOVASCULAR_HEART > CONGESTIVE HEART FAILURE (IN SOME PATIENTS)	OMIM:606703	HPO:skoehler	Nov 18, 2012	
 OMIM:606703	#606703 DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA; FDFM					HP:0001644	Dilated cardiomyopathy			IEA	IEA	rare					OMIM-CS:CARDIOVASCULAR_HEART > DILATED CARDIOMYOPATHY (IN SOME PATIENTS)	OMIM:606703	HPO:skoehler	Nov 18, 2012	
 OMIM:606703	DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA					HP:0000317	Facial myokymia			TAS	TAS							OMIM:606703	HPO:probinson	Mar 30, 2013	
+OMIM:606703	#606703 DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA; FDFM					HP:0008936	Muscular hypotonia of the trunk			IEA	IEA	rare					OMIM-CS:MUSCLE, SOFT TISSUE > AXIAL HYPOTONIA (IN SOME PATIENTS)	OMIM:606703	HPO:skoehler	04.05.2014
+OMIM:606703	#606703 DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA; FDFM					HP:0001270	Motor delay			IEA	IEA	rare					OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED MOTOR DEVELOPMENT (IN SOME PATIENTS)	OMIM:606703	HPO:skoehler	04.05.2014
+OMIM:606703	#606703 DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA; FDFM					HP:0001260	Dysarthria			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DYSARTHRIA	OMIM:606703	HPO:skoehler	04.05.2014
+OMIM:606703	#606703 DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA; FDFM					HP:0001347	Hyperreflexia			IEA	IEA	rare					OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPERREFLEXIA (IN SOME PATIENTS)	OMIM:606703	HPO:skoehler	04.05.2014
+OMIM:606703	#606703 DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA; FDFM					HP:0002509	Limb hypertonia			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > LIMB HYPERTONIA	OMIM:606703	HPO:skoehler	04.05.2014
+OMIM:606703	#606703 DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA; FDFM					HP:0002322	Resting tremor			IEA	IEA	rare					OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > RESTING TREMOR (IN SOME PATIENTS)	OMIM:606703	HPO:skoehler	04.05.2014

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608013.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608013.tab	2014-05-08 23:40:59 UTC (rev 5147)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608013.tab	2014-05-09 08:02:22 UTC (rev 5148)
@@ -45,3 +45,4 @@
 MIM:608013	GAUCHER DISEASE, PERINATAL LETHAL	MIM:606463	GLUCOSIDASE, BETA, ACID		GBA	HP:0008064	Ichthyosiform abnormality of the skin			TAS	TAS							MIM:608013	HPO:probinson	17.04.2012
 MIM:608013	GAUCHER DISEASE, PERINATAL LETHAL	MIM:606463	GLUCOSIDASE, BETA, ACID		GBA	HP:0001541	Ascites			TAS	TAS							MIM:608013	HPO:probinson	17.04.2012
 MIM:608013	GAUCHER DISEASE, PERINATAL LETHAL	MIM:606463	GLUCOSIDASE, BETA, ACID		GBA	HP:0007479	Congenital nonbullous ichthyosiform erythroderma			TAS	TAS							MIM:608013	HPO:probinson	17.04.2012
+OMIM:608013	#608013 GAUCHER DISEASE, PERINATAL LETHAL;;GAUCHER DISEASE, COLLODION TYPE					HP:0002119	Ventriculomegaly			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ENLARGED CEREBRAL VENTRICLES	OMIM:608013	HPO:skoehler	04.05.2014

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609166.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609166.tab	2014-05-08 23:40:59 UTC (rev 5147)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609166.tab	2014-05-09 08:02:22 UTC (rev 5148)
@@ -13,3 +13,4 @@
 OMIM:609166	BRANCHIOGENIC-DEAFNESS SYNDROME					HP:0009795	Branchial fistula			TAS	TAS							OMIM:609166	HPO:skoehler	Feb 17, 2009	
 OMIM:609166	BRANCHIOGENIC-DEAFNESS SYNDROME					HP:0009796	Branchial cyst			TAS	TAS							OMIM:609166	HPO:skoehler	Feb 17, 2009	
 OMIM:609166	BRANCHIOGENIC-DEAFNESS SYNDROME					HP:0009882	Short distal phalanx of finger			IEA	IEA							OMIM:609166	HPO	Feb 17, 2009	
+OMIM:609166	%609166 BRANCHIOGENIC-DEAFNESS SYNDROME					HP:0000407	Sensorineural hearing impairment			IEA	IEA						OMIM-CS:HEAD AND NECK_EARS > SENSORINEURAL HEARING LOSS	OMIM:609166	HPO:skoehler	04.05.2014

Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609218.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609218.tab	                        (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609218.tab	2014-05-09 08:02:22 UTC (rev 5148)
@@ -0,0 +1,9 @@
+Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
+OMIM:609218	#609218 FOVEAL HYPOPLASIA 2; FVH2;;FOVEAL HYPOPLASIA WITH OR WITHOUT OPTIC NERVE MISROUTING AND/OR ANTERIORSEGMENT DYSGENESIS;;FOVEAL HYPOPLASIA, OPTIC NERVE DECUSSATION DEFECTS, AND ANTERIOR SEGMENTDYSGENESIS WITHOUT ALBINISM; FHONDA					HP:0001137	Alternating esotropia			IEA	IEA	rare					OMIM-CS:HEAD AND NECK_EYES > ALTERNATING ESOTROPIA (IN SOME PATIENTS)	OMIM:609218	HPO:skoehler	04.05.2014
+OMIM:609218	#609218 FOVEAL HYPOPLASIA 2; FVH2;;FOVEAL HYPOPLASIA WITH OR WITHOUT OPTIC NERVE MISROUTING AND/OR ANTERIORSEGMENT DYSGENESIS;;FOVEAL HYPOPLASIA, OPTIC NERVE DECUSSATION DEFECTS, AND ANTERIOR SEGMENTDYSGENESIS WITHOUT ALBINISM; FHONDA					HP:0001492	Axenfeld anomaly			IEA	IEA	rare					OMIM-CS:HEAD AND NECK_EYES > AXENFELD ANOMALY (IN SOME PATIENTS)	OMIM:609218	HPO:skoehler	04.05.2014
+OMIM:609218	#609218 FOVEAL HYPOPLASIA 2; FVH2;;FOVEAL HYPOPLASIA WITH OR WITHOUT OPTIC NERVE MISROUTING AND/OR ANTERIORSEGMENT DYSGENESIS;;FOVEAL HYPOPLASIA, OPTIC NERVE DECUSSATION DEFECTS, AND ANTERIOR SEGMENTDYSGENESIS WITHOUT ALBINISM; FHONDA					HP:0000505	Visual impairment			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > DECREASED VISUAL ACUITY	OMIM:609218	HPO:skoehler	04.05.2014
+OMIM:609218	#609218 FOVEAL HYPOPLASIA 2; FVH2;;FOVEAL HYPOPLASIA WITH OR WITHOUT OPTIC NERVE MISROUTING AND/OR ANTERIORSEGMENT DYSGENESIS;;FOVEAL HYPOPLASIA, OPTIC NERVE DECUSSATION DEFECTS, AND ANTERIOR SEGMENTDYSGENESIS WITHOUT ALBINISM; FHONDA					HP:0007750	Hypoplasia of the fovea			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > FOVEAL HYPOPLASIA	OMIM:609218	HPO:skoehler	04.05.2014
+OMIM:609218	#609218 FOVEAL HYPOPLASIA 2; FVH2;;FOVEAL HYPOPLASIA WITH OR WITHOUT OPTIC NERVE MISROUTING AND/OR ANTERIORSEGMENT DYSGENESIS;;FOVEAL HYPOPLASIA, OPTIC NERVE DECUSSATION DEFECTS, AND ANTERIOR SEGMENTDYSGENESIS WITHOUT ALBINISM; FHONDA					HP:0000568	Microphthalmos			IEA	IEA	rare					OMIM-CS:HEAD AND NECK_EYES > MICROPHTHALMIA (IN SOME PATIENTS)	OMIM:609218	HPO:skoehler	04.05.2014
+OMIM:609218	#609218 FOVEAL HYPOPLASIA 2; FVH2;;FOVEAL HYPOPLASIA WITH OR WITHOUT OPTIC NERVE MISROUTING AND/OR ANTERIORSEGMENT DYSGENESIS;;FOVEAL HYPOPLASIA, OPTIC NERVE DECUSSATION DEFECTS, AND ANTERIOR SEGMENTDYSGENESIS WITHOUT ALBINISM; FHONDA					HP:0000639	Nystagmus			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > NYSTAGMUS	OMIM:609218	HPO:skoehler	04.05.2014
+OMIM:609218	#609218 FOVEAL HYPOPLASIA 2; FVH2;;FOVEAL HYPOPLASIA WITH OR WITHOUT OPTIC NERVE MISROUTING AND/OR ANTERIORSEGMENT DYSGENESIS;;FOVEAL HYPOPLASIA, OPTIC NERVE DECUSSATION DEFECTS, AND ANTERIOR SEGMENTDYSGENESIS WITHOUT ALBINISM; FHONDA					HP:0000627	Posterior embryotoxon			IEA	IEA	rare					OMIM-CS:HEAD AND NECK_EYES > POSTERIOR EMBRYOTOXON (IN SOME PATIENTS)	OMIM:609218	HPO:skoehler	04.05.2014
+OMIM:609218	#609218 FOVEAL HYPOPLASIA 2; FVH2;;FOVEAL HYPOPLASIA WITH OR WITHOUT OPTIC NERVE MISROUTING AND/OR ANTERIORSEGMENT DYSGENESIS;;FOVEAL HYPOPLASIA, OPTIC NERVE DECUSSATION DEFECTS, AND ANTERIOR SEGMENTDYSGENESIS WITHOUT ALBINISM; FHONDA					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE	OMIM:609218	HPO:skoehler	04.05.2014


Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609218.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609304.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609304.tab	2014-05-08 23:40:59 UTC (rev 5147)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609304.tab	2014-05-09 08:02:22 UTC (rev 5148)
@@ -8,3 +8,4 @@
 OMIM:609304	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3					HP:0002059	Cerebral atrophy			IEA	IEA							OMIM:609304	HPO	17.02.2009
 OMIM:609304	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3					HP:0002123	Generalized myoclonic seizures			IEA	IEA							OMIM:609304	HPO	17.02.2009
 OMIM:609304	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3					HP:0003819	Death in childhood			IEA	IEA							OMIM:609304	HPO	17.02.2009
+OMIM:609304	#609304 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3; EIEE3					HP:0012448	Delayed myelination			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED MYELINATION	OMIM:609304	HPO:skoehler	04.05.2014

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610048.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610048.tab	2014-05-08 23:40:59 UTC (rev 5147)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610048.tab	2014-05-09 08:02:22 UTC (rev 5148)
@@ -8,3 +8,4 @@
 OMIM:610048	#610048 CORNEAL DYSTROPHY, CONGENITAL STROMAL; CSCD;;CONGENITAL STROMAL CORNEAL DYSTROPHY					HP:0000529	Progressive visual loss			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > VISUAL LOSS, PROGRESSIVE PAINLESS	OMIM:610048	HPO:skoehler	Oct 17, 2012	
 OMIM:610048	#610048 CORNEAL DYSTROPHY, CONGENITAL STROMAL; CSCD;;CONGENITAL STROMAL CORNEAL DYSTROPHY					HP:0200020	Corneal erosions			IEA	IEA				NOT	NOT	OMIM-CS:HEAD AND NECK_EYES > NO CORNEAL EROSIONS	OMIM:610048	HPO:skoehler	30.05.2013
 OMIM:610048	#610048 CORNEAL DYSTROPHY, CONGENITAL STROMAL; CSCD;;CONGENITAL STROMAL CORNEAL DYSTROPHY					HP:0000613	Photophobia			IEA	IEA				NOT	NOT	OMIM-CS:HEAD AND NECK_EYES > NO PHOTOPHOBIA	OMIM:610048	HPO:skoehler	30.05.2013
+OMIM:610048	#610048 CORNEAL DYSTROPHY, CONGENITAL STROMAL; CSCD;;CONGENITAL STROMAL CORNEAL DYSTROPHY					HP:0011487	Increased corneal thickness			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > INCREASED CORNEAL THICKNESS	OMIM:610048	HPO:skoehler	04.05.2014

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610198.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610198.tab	2014-05-08 23:40:59 UTC (rev 5147)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610198.tab	2014-05-09 08:02:22 UTC (rev 5148)
@@ -17,3 +17,4 @@
 MIM:610198	3-@METHYLGLUTACONIC ACIDURIA, TYPE V	MIM:608977	DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 19		DNAJC19	HP:0008897	Postnatal growth retardation			PCS	PCS							MIM:610198	HPO:probinson	16.03.2012
 OMIM:610198	#610198 3-@METHYLGLUTACONIC ACIDURIA, TYPE V; MGCA5;;CARDIOMYOPATHY, DILATED, WITH ATAXIA; DCMA;;MGA, TYPE V; MGA5					HP:0003150	Glutaric aciduria			IEA	IEA						OMIM-CS:LABORATORY ABNORMALITIES > 3-METHYLGLUTARIC ACIDURIA (3-MGA)	OMIM:610198	HPO:skoehler	22.01.2013
 OMIM:610198	#610198 3-@METHYLGLUTACONIC ACIDURIA, TYPE V; MGCA5;;CARDIOMYOPATHY, DILATED, WITH ATAXIA; DCMA;;MGA, TYPE V; MGA5					HP:0001249	Intellectual disability			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, MILD-BORDERLINE, NONPROGRESSIVE	OMIM:610198	HPO:skoehler	22.01.2013
+OMIM:610198	#610198 3-@METHYLGLUTACONIC ACIDURIA, TYPE V; MGCA5;;CARDIOMYOPATHY, DILATED, WITH ATAXIA; DCMA;;MGA, TYPE V; MGA5					HP:0001324	Muscle weakness			IEA	IEA						OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS	OMIM:610198	HPO:skoehler	04.05.2014

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611816.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611816.tab	2014-05-08 23:40:59 UTC (rev 5147)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611816.tab	2014-05-09 08:02:22 UTC (rev 5148)
@@ -18,3 +18,4 @@
 OMIM:611816	%611816 TEMPLE-BARAITSER SYNDROME;;MENTAL RETARDATION, SEVERE, AND ABSENT NAILS OF HALLUX AND POLLEX					HP:0010864	Intellectual disability, severe			TAS	TAS							OMIM:611816	HPO:skoehler	Oct 17, 2012	
 OMIM:611816	TEMPLE-BARAITSER SYNDROME					HP:0012553	Hypoplastic thumbnail			TAS	TAS							OMIM:611816	HPO:probinson	Jan 4, 2014	
 OMIM:611816	TEMPLE-BARAITSER SYNDROME					HP:0012555	Absent nail of hallux			TAS	TAS							OMIM:611816	HPO:probinson	Jan 4, 2014	
+OMIM:611816	%611816 TEMPLE-BARAITSER SYNDROME;;MENTAL RETARDATION, SEVERE, AND ABSENT NAILS OF HALLUX AND POLLEX					HP:0009693	Pseudoepiphysis of the thumb			IEA	IEA						OMIM-CS:SKELETAL_HANDS > PSEUDOEPIPHYSIS OF THE THUMB	OMIM:611816	HPO:skoehler	04.05.2014

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612126.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612126.tab	2014-05-08 23:40:59 UTC (rev 5147)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612126.tab	2014-05-09 08:02:22 UTC (rev 5148)
@@ -13,3 +13,4 @@
 OMIM:612126	#612126 GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS2;;PAROXYSMAL EXERCISE-INDUCED DYSKINESIA WITH OR WITHOUT EPILEPSY AND/ORHEMOLYTIC ANEMIA;;PED WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA;;PAROXYSMAL EXERTION-INDUCED DYSTONIA WITH OR WITHOUT EPILEPSY AND/ORHEMOLYTIC ANEMIA;;DYSTONIA 18; DYT18					HP:0001251	Ataxia			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ATAXIA, MILD	OMIM:612126	HPO:skoehler	22.01.2013
 OMIM:612126	#612126 GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS2;;PAROXYSMAL EXERCISE-INDUCED DYSKINESIA WITH OR WITHOUT EPILEPSY AND/ORHEMOLYTIC ANEMIA;;PED WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA;;PAROXYSMAL EXERTION-INDUCED DYSTONIA WITH OR WITHOUT EPILEPSY AND/ORHEMOLYTIC ANEMIA;;DYSTONIA 18; DYT18					HP:0100660	Dyskinesia			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DYSKINESIA, LIMB, EXERTION-INDUCED	OMIM:612126	HPO:skoehler	22.01.2013
 OMIM:612126	#612126 GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS2;;PAROXYSMAL EXERCISE-INDUCED DYSKINESIA WITH OR WITHOUT EPILEPSY AND/ORHEMOLYTIC ANEMIA;;PED WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA;;PAROXYSMAL EXERTION-INDUCED DYSTONIA WITH OR WITHOUT EPILEPSY AND/ORHEMOLYTIC ANEMIA;;DYSTONIA 18; DYT18					HP:0001332	Dystonia			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DYSTONIA, LIMB, EXERCISE-INDUCED	OMIM:612126	HPO:skoehler	22.01.2013
+OMIM:612126	#612126 GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS2;;PAROXYSMAL EXERCISE-INDUCED DYSKINESIA WITH OR WITHOUT EPILEPSY AND/ORHEMOLYTIC ANEMIA;;PED WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA;;PAROXYSMAL EXERTION-INDUCED DYSTONIA WITH OR WITHOUT EPILEPSY AND/ORHEMOLYTIC ANEMIA;;DYSTONIA 18; DYT18					HP:0002353	EEG abnormality			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > EEG ABNORMALITIES	OMIM:612126	HPO:skoehler	04.05.2014

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612621.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612621.tab	2014-05-08 23:40:59 UTC (rev 5147)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612621.tab	2014-05-09 08:02:22 UTC (rev 5148)
@@ -11,3 +11,4 @@
 OMIM:612621	#612621 MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5					HP:0200134	Epileptic encephalopathy			IEA	IEA	rare					OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > EPILEPTIC ENCEPHALOPATHY (IN SOME PATIENTS)	OMIM:612621	HPO:skoehler	06.10.2013
 OMIM:612621	#612621 MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5					HP:0000473	Torticollis			IEA	IEA	rare					OMIM-CS:HEAD AND NECK_NECK > TORTICOLLIS (IN SOME PATIENTS)	OMIM:612621	HPO:skoehler	28.11.2013
 OMIM:612621	#612621 MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED DEVELOPMENT	OMIM:612621	HPO:skoehler	04.04.2014
+OMIM:612621	#612621 MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5					HP:0002353	EEG abnormality			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > EEG ABNORMALITIES	OMIM:612621	HPO:skoehler	04.05.2014

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613159.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613159.tab	2014-05-08 23:40:59 UTC (rev 5147)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613159.tab	2014-05-09 08:02:22 UTC (rev 5148)
@@ -11,3 +11,4 @@
 OMIM:613159	#613159 NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1					HP:0001249	Intellectual disability			IEA	IEA	rare					OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION (1 FAMILY)	OMIM:613159	HPO:skoehler	18.11.2012
 OMIM:613159	#613159 NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1					HP:0001250	Seizures			IEA	IEA	rare					OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES (1 FAMILY)	OMIM:613159	HPO:skoehler	18.11.2012
 OMIM:613159	#613159 NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1					HP:0100702	Arachnoid cyst			IEA	IEA	rare					OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ARACHNOID CYSTS (1 PATIENT)	OMIM:613159	HPO:skoehler	31.05.2013
+OMIM:613159	#613159 NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1					HP:0000407	Sensorineural hearing impairment			IEA	IEA	rare					OMIM-CS:HEAD AND NECK_EARS > SENSORINEURAL HEARING LOSS (1 FAMILY)	OMIM:613159	HPO:skoehler	04.05.2014

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613206.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613206.tab	2014-05-08 23:40:59 UTC (rev 5147)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613206.tab	2014-05-09 08:02:22 UTC (rev 5148)
@@ -16,3 +16,4 @@
 OMIM:613206	#613206 SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE; SPG44					HP:0006986	Upper limb spasticity			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > UPPER LIMB SPASTICITY	OMIM:613206	HPO:skoehler	03.06.2013
 OMIM:613206	#613206 SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE; SPG44					HP:0002936	Distal se...
 
[truncated message content]

[Obo-svn-commit] SF.net SVN: obo:[5146] uberon/trunk/core.owl

[<cmu...@us...>]

Revision: 5146
          http://sourceforge.net/p/obo/svn/5146
Author:   cmungall
Date:     2014-05-08 15:09:28 +0000 (Thu, 08 May 2014)
Log Message:
-----------
intermeidate release for phenoscape

Modified Paths:
--------------
    uberon/trunk/core.owl

Modified: uberon/trunk/core.owl
===================================================================
--- uberon/trunk/core.owl	2014-05-04 01:30:24 UTC (rev 5145)
+++ uberon/trunk/core.owl	2014-05-08 15:09:28 UTC (rev 5146)
@@ -7510,7 +7510,6 @@
 Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0010091>))
 Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0010092>))
 Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0010096>))
-Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0010115>))
 Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0010123>))
 Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0010124>))
 Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0010125>))
@@ -10155,6 +10154,17 @@
 Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0016853>))
 Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0016854>))
 Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0016855>))
+Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0016856>))
+Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0016857>))
+Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0016858>))
+Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0016866>))
+Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0016867>))
+Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0016868>))
+Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0016876>))
+Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0016877>))
+Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0016878>))
+Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0016879>))
+Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0016880>))
 Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_1000000>))
 Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_1000001>))
 Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_1000002>))
@@ -10206,13 +10216,13 @@
 Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_2005150>))
 Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_2005259>))
 Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_2005260>))
-Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_3000469>))
-Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_3000477>))
 Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_3000580>))
+Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_3000922>))
 Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_3010602>))
 Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_3010654>))
 Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_3010692>))
 Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_3010752>))
+Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_4000168>))
 Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_4200038>))
 Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_4200041>))
 Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_5001463>))
@@ -10391,6 +10401,7 @@
 Declaration(ObjectProperty(<http://purl.obolibrary.org/obo/uberon/core#exists_during>))
 Declaration(ObjectProperty(<http://purl.obolibrary.org/obo/uberon/core#has_end>))
 Declaration(ObjectProperty(<http://purl.obolibrary.org/obo/uberon/core#has_muscle_antagonist>))
+Declaration(ObjectProperty(<http://purl.obolibrary.org/obo/uberon/core#has_skeleton>))
 Declaration(ObjectProperty(<http://purl.obolibrary.org/obo/uberon/core#has_start>))
 Declaration(ObjectProperty(<http://purl.obolibrary.org/obo/uberon/core#posteriorly_connected_to>))
 Declaration(ObjectProperty(<http://purl.obolibrary.org/obo/uberon/core#proximally_connected_to>))
@@ -13353,6 +13364,7 @@
 EquivalentClasses(<http://purl.obolibrary.org/obo/UBERON_0000151> ObjectIntersectionOf(ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0010708>) <http://purl.obolibrary.org/obo/UBERON_0002534>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000151> <http://purl.obolibrary.org/obo/UBERON_0004710>)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000151> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002202> <http://purl.obolibrary.org/obo/UBERON_0005419>))
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000151> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/uberon/core#has_skeleton> <http://purl.obolibrary.org/obo/UBERON_0010710>))
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000152> "ZFA:0001184"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000152> "EFO:0003644"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#inSubset> <http://purl.obolibrary.org/obo/UBERON_0000152> <http://purl.obolibrary.org/obo/uberon/core#efo_slim>)
@@ -13371,6 +13383,7 @@
 EquivalentClasses(<http://purl.obolibrary.org/obo/UBERON_0000152> ObjectIntersectionOf(ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0010709>) <http://purl.obolibrary.org/obo/UBERON_0002534>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000152> <http://purl.obolibrary.org/obo/UBERON_0004709>)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000152> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002202> <http://purl.obolibrary.org/obo/UBERON_0005420>))
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000152> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/uberon/core#has_skeleton> <http://purl.obolibrary.org/obo/UBERON_0010711>))
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#id> <http://purl.obolibrary.org/obo/UBERON_0000153> "UBERON:0000153"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasOBONamespace> <http://purl.obolibrary.org/obo/UBERON_0000153> "uberon"^^xsd:string)
 AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/UBERON_0000153> "anterior region of body"^^xsd:string)
@@ -15586,7 +15599,7 @@
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#source> "ncithesaurus:Leptomeninges"^^xsd:string) <http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000391> "UMLS:C0228126"^^xsd:string)
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "BTO:0001634"^^xsd:string) <http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym> <http://purl.obolibrary.org/obo/UBERON_0000391> "pia-arachnoid"^^xsd:string)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000391> <http://purl.obolibrary.org/obo/UBERON_0002360>)
-SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000391> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002202> <http://purl.obolibrary.org/obo/UBERON_0007646>))
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000391> ObjectSomeValuesFrom(<http://semanticscience.org/resource/SIO_000658> <http://purl.obolibrary.org/obo/UBERON_0007646>))
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#id> <http://purl.obolibrary.org/obo/UBERON_0000392> "UBERON:0000392"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasOBONamespace> <http://purl.obolibrary.org/obo/UBERON_0000392> "uberon"^^xsd:string)
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "FMA:77178"^^xsd:string) <http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/UBERON_0000392> "longissimus"^^xsd:string)
@@ -17492,6 +17505,7 @@
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000915> <http://en.wikipedia.org/wiki/Thorax>)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000915> <http://purl.obolibrary.org/obo/UBERON_0009569>)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000915> <http://purl.obolibrary.org/obo/UBERON_0011676>)
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000915> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/uberon/core#has_skeleton> <http://purl.obolibrary.org/obo/UBERON_0014477>))
 AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/UBERON_0000916> "abdomen"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000916> "CALOHA:TS-0001"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000916> "MIAA:0000298"^^xsd:string)
@@ -19005,6 +19019,7 @@
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000975> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002170> <http://purl.obolibrary.org/obo/UBERON_0007831>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000975> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002433> <http://purl.obolibrary.org/obo/UBERON_0003252>))
 AnnotationAssertion(<http://purl.obolibrary.org/obo/UBPROP_0000007> <http://purl.obolibrary.org/obo/UBERON_0000976> "humeral"^^xsd:string)
+AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "ISBN:0226313409"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#hasSynonymType> <http://purl.obolibrary.org/obo/uberon/core#HOMOLOGY>) <http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym> <http://purl.obolibrary.org/obo/UBERON_0000976> "proximal metapterygial mesomere of pectoral fin"^^xsd:string)
 AnnotationAssertion(<http://xmlns.com/foaf/0.1/depicted_by> <http://purl.obolibrary.org/obo/UBERON_0000976> <http://upload.wikimedia.org/wikipedia/commons/thumb/6/67/Illu_upper_extremity.jpg/200px-Illu_upper_extremity.jpg>)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasOBONamespace> <http://purl.obolibrary.org/obo/UBERON_0000976> "uberon"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000976> "MESH:A02.835.232.087.412"^^xsd:string)
@@ -19012,6 +19027,7 @@
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000976> "GAID:183"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000976> "EFO:0001398"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000976> "CALOHA:TS-2202"^^xsd:string)
+AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "ISBN:0226313409"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#hasSynonymType> <http://purl.obolibrary.org/obo/uberon/core#HOMOLOGY>) <http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym> <http://purl.obolibrary.org/obo/UBERON_0000976> "proximal metapterygial mesomere of pectoral appendage"^^xsd:string)
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "PHENOSCAPE:ad"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#hasSynonymType> <http://purl.obolibrary.org/obo/uberon/core#PLURAL>) <http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/UBERON_0000976> "humeri"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000976> "galen:Humerus"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#inSubset> <http://purl.obolibrary.org/obo/UBERON_0000976> <http://purl.obolibrary.org/obo/uberon/core#uberon_slim>)
@@ -19023,7 +19039,6 @@
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#id> <http://purl.obolibrary.org/obo/UBERON_0000976> "UBERON:0000976"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/UBERON_0000976> "humerus bone"^^xsd:string)
 AnnotationAssertion(<http://xmlns.com/foaf/0.1/depicted_by> <http://purl.obolibrary.org/obo/UBERON_0000976> <http://upload.wikimedia.org/wikipedia/commons/6/67/Illu_upper_extremity.jpg>)
-AnnotationAssertion(rdfs:comment <http://purl.obolibrary.org/obo/UBERON_0000976> "homologous to proximal metapterygial mesomere of pectoral appendage [Hall 2007]"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000976> "XAO:0003210"^^xsd:string)
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#date_retrieved> "2012-09-17"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#external_class> "VHOG:0001158"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#ontology> "VHOG"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#source> <http://bgee.unil.ch/>) Annotation(<http://www.geneontology.org/formats/oboInOwl#source> "ISBN:978-0198540472 Janvier P, Early vertebrates (1996) p.268"^^xsd:string) <http://purl.obolibrary.org/obo/UBPROP_0000003> <http://purl.obolibrary.org/obo/UBERON_0000976> "Most anatomists now agree that the three proximal bones of the tetrapod limbs are homologous to the two or three proximal elements of the paired fin skeleton of other sarcopterygians, that is the humerus-femur, radius-tibia, and ulna-fibula.[well established][VHOG]"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000976> <http://en.wikipedia.org/wiki/Humerus>)
@@ -19031,6 +19046,7 @@
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#date_retrieved> "2012-06-20"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#external_class> "AAO:0000679"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#ontology> "AAO"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#source> "AAO:LAP"^^xsd:string) <http://purl.obolibrary.org/obo/UBPROP_0000001> <http://purl.obolibrary.org/obo/UBERON_0000976> "Paired, elongate, cylindrical bones of endochondral origin that extend from the pectoral girdle to the elbows.[AAO]"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000976> "FMA:13303"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000976> "AAO:0000679"^^xsd:string)
+AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "ISBN:0226313409"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#hasSynonymType> <http://purl.obolibrary.org/obo/uberon/core#HOMOLOGY>) <http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym> <http://purl.obolibrary.org/obo/UBERON_0000976> "mesomere 1 of pectoral appendage"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000976> <http://www.snomedbrowser.com/Codes/Details/181923006>)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000976> "EMAPA:19106"^^xsd:string)
 AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/UBERON_0000976> "humerus"^^xsd:string)
@@ -19162,11 +19178,12 @@
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasOBONamespace> <http://purl.obolibrary.org/obo/UBERON_0000981> "uberon"^^xsd:string)
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "BTO:0001284"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#hasSynonymType> <http://purl.obolibrary.org/obo/uberon/core#LATIN>) <http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym> <http://purl.obolibrary.org/obo/UBERON_0000981> "os femoris"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000981> "galen:Femur"^^xsd:string)
+AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "ISBN:0226313409"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#hasSynonymType> <http://purl.obolibrary.org/obo/uberon/core#HOMOLOGY>) <http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym> <http://purl.obolibrary.org/obo/UBERON_0000981> "mesomere 1 of pevlic appendage"^^xsd:string)
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "BTO:0001284"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#hasSynonymType> <http://purl.obolibrary.org/obo/uberon/core#LATIN>) <http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym> <http://purl.obolibrary.org/obo/UBERON_0000981> "os femorale"^^xsd:string)
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://en.wikipedia.org/wiki/Femur>) Annotation(<http://www.geneontology.org/formats/oboInOwl#hasSynonymType> <http://purl.obolibrary.org/obo/uberon/core#LATIN>) <http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym> <http://purl.obolibrary.org/obo/UBERON_0000981> "os longissimum"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#inSubset> <http://purl.obolibrary.org/obo/UBERON_0000981> <http://purl.obolibrary.org/obo/uberon/core#uberon_slim>)
 AnnotationAssertion(<http://xmlns.com/foaf/0.1/depicted_by> <http://purl.obolibrary.org/obo/UBERON_0000981> <http://upload.wikimedia.org/wikipedia/commons/7/73/Gray252.png>)
-AnnotationAssertion(rdfs:comment <http://purl.obolibrary.org/obo/UBERON_0000981> "homologous to proximal metapterygial mesomere of pelvic appendage [Hall 2007]."^^xsd:string)
+AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "ISBN:0226313409"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#hasSynonymType> <http://purl.obolibrary.org/obo/uberon/core#HOMOLOGY>) <http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym> <http://purl.obolibrary.org/obo/UBERON_0000981> "proximal metapterygial mesomere of pelvic fin"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000981> <http://en.wikipedia.org/wiki/Femur>)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000981> "VHOG:0001159"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000981> <http://www.snomedbrowser.com/Codes/Details/182046008>)
@@ -19179,13 +19196,14 @@
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://en.wikipedia.org/wiki/Femur>) Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "VSAO:0000186"^^xsd:string) <http://purl.obolibrary.org/obo/IAO_0000115> <http://purl.obolibrary.org/obo/UBERON_0000981> "Endochondral longbone connecting the pelvic girdle with posterior zeugopodium skeleton.[VSAO, modified]."^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000981> "FMA:9611"^^xsd:string)
 AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/UBERON_0000981> "femur"^^xsd:string)
+AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "ISBN:0226313409"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#hasSynonymType> <http://purl.obolibrary.org/obo/uberon/core#HOMOLOGY>) <http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym> <http://purl.obolibrary.org/obo/UBERON_0000981> "proximal metapterygial mesomere of pelvic appendage"^^xsd:string)
+AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#source> "ncithesaurus:Femur"^^xsd:string) <http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000981> "UMLS:C0015811"^^xsd:string)
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#date_retrieved> "2012-06-20"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#external_class> "AAO:0000889"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#ontology> "AAO"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#source> "AAO:LAP"^^xsd:string) <http://purl.obolibrary.org/obo/UBPROP_0000001> <http://purl.obolibrary.org/obo/UBERON_0000981> "Paired, elongate, cylindrical bones of endochondral origin that form the thighs, extending from the pelvic girdles to the knees.[AAO]"^^xsd:string)
-AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#source> "ncithesaurus:Femur"^^xsd:string) <http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000981> "UMLS:C0015811"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000981> "MESH:A02.835.232.500.247"^^xsd:string)
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "BTO:0001284"^^xsd:string) <http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym> <http://purl.obolibrary.org/obo/UBERON_0000981> "femoral bone"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000981> "MA:0001359"^^xsd:string)
+AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/UBERON_0000981> "thigh bone"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000981> "GAID:199"^^xsd:string)
-AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/UBERON_0000981> "thigh bone"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#inSubset> <http://purl.obolibrary.org/obo/UBERON_0000981> <http://purl.obolibrary.org/obo/uberon/core#efo_slim>)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000981> "ncithesaurus:Femur"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000981> "VSAO:0000186"^^xsd:string)
@@ -19266,6 +19284,7 @@
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000983> <http://www.snomedbrowser.com/Codes/Details/280711000>)
 EquivalentClasses(<http://purl.obolibrary.org/obo/UBERON_0000983> ObjectIntersectionOf(ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0002387>) <http://purl.obolibrary.org/obo/UBERON_0009877>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000983> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0012142>))
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000983> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/uberon/core#has_skeleton> <http://purl.obolibrary.org/obo/UBERON_0010545>))
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000984> "FBbt:00004729"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#inSubset> <http://purl.obolibrary.org/obo/UBERON_0000984> <http://purl.obolibrary.org/obo/uberon/core#uberon_slim>)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasOBONamespace> <http://purl.obolibrary.org/obo/UBERON_0000984> "uberon"^^xsd:string)
@@ -20379,8 +20398,7 @@
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0001016> "GAID:466"^^xsd:string)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001016> <http://purl.obolibrary.org/obo/UBERON_0000467>)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001016> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002160> <http://purl.obolibrary.org/obo/NCBITaxon_6072>))
-SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001016> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002254> <http://purl.obolibrary.org/obo/UBERON_0000924>))
-SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001016> ObjectSomeValuesFrom(<http://semanticscience.org/resource/SIO_000658> <http://purl.obolibrary.org/obo/UBERON_3000477>))
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001016> ObjectSomeValuesFrom(<http://semanticscience.org/resource/SIO_000658> <http://purl.obolibrary.org/obo/UBERON_0016880>))
 DisjointClasses(<http://purl.obolibrary.org/obo/UBERON_0001016> <http://purl.obolibrary.org/obo/UBERON_0001033>)
 DisjointClasses(<http://purl.obolibrary.org/obo/UBERON_0001016> <http://purl.obolibrary.org/obo/UBERON_0001434>)
 DisjointClasses(<http://purl.obolibrary.org/obo/UBERON_0001016> <http://purl.obolibrary.org/obo/UBERON_0002204>)
@@ -20447,8 +20465,7 @@
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001017> <http://purl.obolibrary.org/obo/UBERON_0011216>)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001017> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0001016>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001017> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002160> <http://purl.obolibrary.org/obo/NCBITaxon_33213>))
-SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001017> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002202> <http://purl.obolibrary.org/obo/UBERON_0000924>))
-SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001017> ObjectSomeValuesFrom(<http://semanticscience.org/resource/SIO_000658> <http://purl.obolibrary.org/obo/UBERON_3000469>))
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001017> ObjectSomeValuesFrom(<http://semanticscience.org/resource/SIO_000658> <http://purl.obolibrary.org/obo/UBERON_0016879>))
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0001018> "FMA:83847"^^xsd:string)
 AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/UBERON_0001018> "axon tract"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym> <http://purl.obolibrary.org/obo/UBERON_0001018> "tract"^^xsd:string)
@@ -21203,12 +21220,8 @@
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#date_retrieved> "2012-06-20"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#external_class> "AAO:0010617"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#ontology> "AAO"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#source> "AAO:JOR"^^xsd:string) <http://purl.obolibrary.org/obo/UBPROP_0000001> <http://purl.obolibrary.org/obo/UBERON_0001049> "Hollow epithelial tube on dorsal side of the embryo that develops into the central nervous system.[AAO]"^^xsd:string)
 AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/UBERON_0001049> "neural tube"^^xsd:string)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001049> <http://purl.obolibrary.org/obo/UBERON_0003914>)
-SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001049> <http://purl.obolibrary.org/obo/UBERON_0005423>)
-SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001049> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0000922>))
-SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001049> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0001016>))
-SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001049> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002202> <http://purl.obolibrary.org/obo/UBERON_0002346>))
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001049> <http://purl.obolibrary.org/obo/UBERON_0016879>)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001049> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002202> <http://purl.obolibrary.org/obo/UBERON_0005068>))
-SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001049> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002387> <http://purl.obolibrary.org/obo/UBERON_0001017>))
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#id> <http://purl.obolibrary.org/obo/UBERON_0001050> "UBERON:0001050"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#consider> <http://purl.obolibrary.org/obo/UBERON_0001050> "UBERON:0002081"^^xsd:string)
 AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/UBERON_0001050> "obsolete atrium"^^xsd:string)
@@ -26789,6 +26802,7 @@
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym> <http://purl.obolibrary.org/obo/UBERON_0001271> "girdle - pelvic"^^xsd:string)
 EquivalentClasses(<http://purl.obolibrary.org/obo/UBERON_0001271> ObjectIntersectionOf(ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0010709>) <http://purl.obolibrary.org/obo/UBERON_0007823>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001271> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BSPO_0000126> <http://purl.obolibrary.org/obo/UBERON_0002091>))
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001271> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/uberon/core#has_skeleton> <http://purl.obolibrary.org/obo/UBERON_0007832>))
 DisjointClasses(<http://purl.obolibrary.org/obo/UBERON_0001271> <http://purl.obolibrary.org/obo/UBERON_0007832>)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0001272> "FMA:16585"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym> <http://purl.obolibrary.org/obo/UBERON_0001272> "basipterygium"^^xsd:string)
@@ -27228,14 +27242,13 @@
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0001287> "EMAPA:28287"^^xsd:string)
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://en.wikipedia.org/wiki/Proximal_convoluted_tubule>) Annotation(<http://www.geneontology.org/formats/oboInOwl#hasSynonymType> <http://purl.obolibrary.org/obo/uberon/core#LATIN>) <http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym> <http://purl.obolibrary.org/obo/UBERON_0001287> "tubulus contortus proximalis"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0001287> "FMA:17693"^^xsd:string)
+AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "GO:0072019"^^xsd:string) <http://purl.obolibrary.org/obo/IAO_0000115> <http://purl.obolibrary.org/obo/UBERON_0001287> "The proximal convoluted tubule is the most proximal portion of the proximal tubule and extends from the glomerular capsule to the proximal straight tubule."^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasOBONamespace> <http://purl.obolibrary.org/obo/UBERON_0001287> "uberon"^^xsd:string)
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#date_retrieved> "2012-08-14"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#external_class> "TAO:0005290"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#ontology> "TAO"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#source> "ZFIN:curator"^^xsd:string) <http://purl.obolibrary.org/obo/UBPROP_0000001> <http://purl.obolibrary.org/obo/UBERON_0001287> "Renal tubule that connects to the renal corpuscle.[TAO]"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0001287> "MA:0001669"^^xsd:string)
-AnnotationAssertion(rdfs:comment <http://purl.obolibrary.org/obo/UBERON_0001287> "TODO - cleanly define difference between proximal tubule and proximal convoluted tubule. Make definition applicable across species."^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#inSubset> <http://purl.obolibrary.org/obo/UBERON_0001287> <http://purl.obolibrary.org/obo/uberon/core#vertebrate_core>)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/UBERON_0001287> "proximal convoluted renal tubule"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0001287> "CALOHA:TS-2198"^^xsd:string)
-AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://en.wikipedia.org/wiki/Proximal_convoluted_tubule>) <http://purl.obolibrary.org/obo/IAO_0000115> <http://purl.obolibrary.org/obo/UBERON_0001287> "The proximal tubule is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle[WP]"^^xsd:string)
 AnnotationAssertion(<http://xmlns.com/foaf/0.1/depicted_by> <http://purl.obolibrary.org/obo/UBERON_0001287> <http://upload.wikimedia.org/wikipedia/commons/2/27/Gray1128.png>)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#id> <http://purl.obolibrary.org/obo/UBERON_0001287> "UBERON:0001287"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/UBERON_0001287> "tubulus contortus proximalis"^^xsd:string)
@@ -27244,9 +27257,11 @@
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0001287> "EV:0100388"^^xsd:string)
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#source> "ncithesaurus:Proximal_Convoluted_Tube"^^xsd:string) <http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0001287> "UMLS:C1514580"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym> <http://purl.obolibrary.org/obo/UBERON_0001287> "PCT"^^xsd:string)
-SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001287> <http://purl.obolibrary.org/obo/UBERON_0004134>)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001287> <http://purl.obolibrary.org/obo/UBERON_0006534>)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001287> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0001225>))
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001287> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0004134>))
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001287> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002150> <http://purl.obolibrary.org/obo/UBERON_0001230>))
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001287> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002150> <http://purl.obolibrary.org/obo/UBERON_0001290>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001287> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002202> <http://purl.obolibrary.org/obo/UBERON_0003220>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001287> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002433> <http://purl.obolibrary.org/obo/UBERON_0001231>))
 AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/UBERON_0001288> "loop of Henle"^^xsd:string)
@@ -27297,15 +27312,15 @@
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001289> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0001288>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001289> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002433> <http://purl.obolibrary.org/obo/UBERON_0001288>))
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0001290> "ZFA:0005291"^^xsd:string)
+AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "GO:0072020"^^xsd:string) <http://purl.obolibrary.org/obo/IAO_0000115> <http://purl.obolibrary.org/obo/UBERON_0001290> "The proximal straight tubule is the part of the descending limb that extends from the proximal convoluted tubule to the descending thin tubule."^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0001290> "TAO:0005291"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/UBERON_0001290> "thick descending limb of proximal tubule"^^xsd:string)
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "EMAPA:29661"^^xsd:string) <http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym> <http://purl.obolibrary.org/obo/UBERON_0001290> "segment 3 of proximal tubule"^^xsd:string)
-AnnotationAssertion(rdfs:comment <http://purl.obolibrary.org/obo/UBERON_0001290> "TODO - is S3 exactly coincident with PST? Check also relationship to DL. todo - ensure relationships work across species (loop of Henle)"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#id> <http://purl.obolibrary.org/obo/UBERON_0001290> "UBERON:0001290"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasAlternativeId> <http://purl.obolibrary.org/obo/UBERON_0001290> "UBERON:0005166"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/UBERON_0001290> "tubulus rectus proximalis"^^xsd:string)
+AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#inSubset> <http://purl.obolibrary.org/obo/UBERON_0001290> <http://purl.obolibrary.org/obo/uberon/core#uberon_slim>)
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "MA:0002614"^^xsd:string) <http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym> <http://purl.obolibrary.org/obo/UBERON_0001290> "proximal tubule segment 3"^^xsd:string)
-AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#inSubset> <http://purl.obolibrary.org/obo/UBERON_0001290> <http://purl.obolibrary.org/obo/uberon/core#uberon_slim>)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasOBONamespace> <http://purl.obolibrary.org/obo/UBERON_0001290> "uberon"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0001290> "BTO:0000055"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym> <http://purl.obolibrary.org/obo/UBERON_0001290> "pars recta"^^xsd:string)
@@ -27313,16 +27328,18 @@
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "BTO:0000055"^^xsd:string) <http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym> <http://purl.obolibrary.org/obo/UBERON_0001290> "pars recta tubuli renalis"^^xsd:string)
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#date_retrieved> "2012-08-14"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#external_class> "TAO:0005291"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#ontology> "TAO"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#source> "ZFIN:curator"^^xsd:string) <http://purl.obolibrary.org/obo/UBPROP_0000001> <http://purl.obolibrary.org/obo/UBERON_0001290> "Portion of the renal tubule which is just posterior to the proximal convoluted tubule.[TAO]"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#inSubset> <http://purl.obolibrary.org/obo/UBERON_0001290> <http://purl.obolibrary.org/obo/uberon/core#vertebrate_core>)
+AnnotationAssertion(rdfs:comment <http://purl.obolibrary.org/obo/UBERON_0001290> "TODO - is S3 exactly coincident with PST? todo - ensure relationships work across species (loop of Henle)"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0001290> "EMAPA:29661"^^xsd:string)
 AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/UBERON_0001290> "proximal straight tubule"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0001290> "MA:0002614"^^xsd:string)
-AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://en.wikipedia.org/wiki/Proximal_straight_tubule>) Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "BTO:0000055"^^xsd:string) <http://purl.obolibrary.org/obo/IAO_0000115> <http://purl.obolibrary.org/obo/UBERON_0001290> "part of the descending limb of the renal tubule, extending from the proximal convoluted tubule to the thin tubule[BTO]."^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0001290> "FMA:17716"^^xsd:string)
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "GO:0072020"^^xsd:string) <http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/UBERON_0001290> "S3"^^xsd:string)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001290> <http://purl.obolibrary.org/obo/UBERON_0007685>)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001290> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0001289>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001290> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0004134>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001290> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0006542>))
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001290> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002150> <http://purl.obolibrary.org/obo/UBERON_0001287>))
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001290> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002150> <http://purl.obolibrary.org/obo/UBERON_0005096>))
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#inSubset> <http://purl.obolibrary.org/obo/UBERON_0001291> <http://purl.obolibrary.org/obo/uberon/core#uberon_slim>)
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "FMA:17722"^^xsd:string) <http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/UBERON_0001291> "straight portion of distal convoluted tubule"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/UBERON_0001291> "ascending thick limb"^^xsd:string)
@@ -27347,7 +27364,8 @@
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0001291> <http://en.wikipedia.org/wiki/Thick_ascending_limb_of_loop_of_Henle>)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasOBONamespace> <http://purl.obolibrary.org/obo/UBERON_0001291> "uberon"^^xsd:string)
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "FMA:17722"^^xsd:string) <http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/UBERON_0001291> "thick ascending limb of distal tubule"^^xsd:string)
-SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001291> <http://purl.obolibrary.org/obo/UBERON_0004135>)
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001291> <http://purl.obolibrary.org/obo/UBERON_0007685>)
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001291> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0004135>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001291> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0005164>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001291> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002433> <http://purl.obolibrary.org/obo/UBERON_0005164>))
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0001292> <http://linkedlifedata.com/resource/umls/id/C0022676>)
@@ -30254,6 +30272,7 @@
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#inSubset> <http://purl.obolibrary.org/obo/UBERON_0001421> <http://purl.obolibrary.org/obo/uberon/core#uberon_slim>)
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "FMA:23217"^^xsd:string) <http://www.geneontology.org/formats/oboInOwl#hasNarrowSynonym> <http://purl.obolibrary.org/obo/UBERON_0001421> "upper limb girdle"^^xsd:string)
 EquivalentClasses(<http://purl.obolibrary.org/obo/UBERON_0001421> ObjectIntersectionOf(ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0010708>) <http://purl.obolibrary.org/obo/UBERON_0007823>))
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001421> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/uberon/core#has_skeleton> <http://purl.obolibrary.org/obo/UBERON_0007831>))
 DisjointClasses(<http://purl.obolibrary.org/obo/UBERON_0001421> <http://purl.obolibrary.org/obo/UBERON_0007831>)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasOBONamespace> <http://purl.obolibrary.org/obo/UBERON_0001422> "uberon"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#id> <http://purl.obolibrary.org/obo/UBERON_0001422> "UBERON:0001422"^^xsd:string)
@@ -37742,6 +37761,7 @@
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "FMA:59399"^^xsd:string) <http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/UBERON_0001709> "maxillary part of mouth"^^xsd:string)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001709> <http://purl.obolibrary.org/obo/UBERON_0011595>)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001709> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0004089>))
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001709> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/uberon/core#has_skeleton> <http://purl.obolibrary.org/obo/UBERON_0003277>))
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0001710> "EMAPA:17906"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym> <http://purl.obolibrary.org/obo/UBERON_0001710> "mandibular series"^^xsd:string)
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#date_retrieved> "2012-06-20"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#external_class> "AAO:0000272"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#ontology> "AAO"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#source> "AAO:LAP"^^xsd:string) <http://purl.obolibrary.org/obo/UBPROP_0000001> <http://purl.obolibrary.org/obo/UBERON_0001710> "Inferior mandibular arch located on the anterior and lateral sides of the skull.[AAO]"^^xsd:string)
@@ -37769,6 +37789,7 @@
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#date_retrieved> "2012-09-17"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#external_class> "VHOG:0000453"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#ontology> "VHOG"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#source> <http://bgee.unil.ch/>) Annotation(<http://www.geneontology.org/formats/oboInOwl#source> "DOI:10.1046/j.1469-7580.2001.19910133.x Graham A. The development and evolution of the pharyngeal arches. J Anat (2001)"^^xsd:string) <http://purl.obolibrary.org/obo/UBPROP_0000003> <http://purl.obolibrary.org/obo/UBERON_0001710> "Subsequent vertebrate evolution has also involved major alterations to the pharynx; perhaps the most notable occurred with the evolution of the gnathostomes. This involved substantial modifications to the most anterior pharyngeal segments, with the jaw forming from the first, anterior, pharyngeal segment, while the second formed its supporting apparatus, the hyoid.[well established][VHOG]"^^xsd:string)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001710> <http://purl.obolibrary.org/obo/UBERON_0011595>)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001710> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002202> <http://purl.obolibrary.org/obo/UBERON_0005867>))
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0001710> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/uberon/core#has_skeleton> <http://purl.obolibrary.org/obo/UBERON_0003278>))
 AnnotationAssertion(rdfs:comment <http://purl.obolibrary.org/obo/UBERON_0001711> "Each eyelid consists of the following layers, starting anteriorly: (1) skin, (2) a layer of subcutaneous connective tissue, (3) a layer of striated muscle fibres of the orbicularis muscle, (4) a layer of submuscular connective tissue, (5) a fibrous layer, including the tarsal plates, (6) a layer of smooth muscle, (7) the palpebral conjunctiva. AO notes: FMA divides this into skin, fascia, conjunctiva. Consider adding 'eye surface', like MA"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0001711> <http://en.wikipedia.org/wiki/Eyelid>)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0001711> "EHDAA:9037"^^xsd:string)
@@ -49056,6 +49077,7 @@
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0002101> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002160> <http://purl.obolibrary.org/obo/NCBITaxon_32523>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0002101> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002202> <http://purl.obolibrary.org/obo/UBERON_0004347>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0002101> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002322> <http://purl.obolibrary.org/obo/ENVO_00000446>))
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0002101> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/uberon/core#has_skeleton> <http://purl.obolibrary.org/obo/UBERON_0004381>))
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0002102> "XAO:0003030"^^xsd:string)
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "FMA:24878"^^xsd:string) <http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/UBERON_0002102> "free part of upper limb"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0002102> "NIF_GrossAnatomy:UBERON_0002102"^^xsd:string)
@@ -49106,6 +49128,7 @@
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0002102> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BSPO_0000096> <http://purl.obolibrary.org/obo/UBERON_0002103>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0002102> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002170> <http://purl.obolibrary.org/obo/UBERON_0001421>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0002102> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002202> <http://purl.obolibrary.org/obo/UBERON_0005417>))
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0002102> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/uberon/core#has_skeleton> <http://purl.obolibrary.org/obo/UBERON_0001440>))
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0002103> "ncithesaurus:Lower_Extremity"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0002103> <http://www.snomedbrowser.com/Codes/Details/182281004>)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0002103> "VSAO:0000150"^^xsd:string)
@@ -49161,6 +49184,7 @@
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0002103> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0000154>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0002103> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002170> <http://purl.obolibrary.org/obo/UBERON_0001271>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0002103> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002202> <http://purl.obolibrary.org/obo/UBERON_0005418>))
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0002103> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/uberon/core#has_skeleton> <http://purl.obolibrary.org/obo/UBERON_0001441>))
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0002104> "BILA:0000140"^^xsd:string)
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "NIF_GrossAnatomy:FMAID_7191"^^xsd:string) <http://purl.obolibrary.org/obo/IAO_0000115> <http://purl.obolibrary.org/obo/UBERON_0002104> "The sensory system subserving the sense of vision."^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0002104> "ncithesaurus:Visual_System"^^xsd:string)
@@ -50953,7 +50977,6 @@
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0002165> <http://purl.obolibrary.org/obo/UBERON_0002523>)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0002165> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0000948>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0002165> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000051> <http://purl.obolibrary.org/obo/UBERON_0001986>))
-SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0002165> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002202> <http://purl.obolibrary.org/obo/UBERON_0007280>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0002165> ObjectSomeValuesFrom(<http://semanticscience.org/resource/SIO_000658> <http://purl.obolibrary.org/obo/UBERON_0007280>))
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0002166> "VHOG:0000606"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0002166> "MA:0000077"^^xsd:string)
@@ -55963,8 +55986,7 @@
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasOBONamespace> <http://purl.obolibrary.org/obo/UBERON_0002363> "uberon"^^xsd:string)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0002363> <http://purl.obolibrary.org/obo/UBERON_0002360>)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0002363> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002150> <http://purl.obolibrary.org/obo/UBERON_0001773>))
-SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0002363> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002202> <http://purl.obolibrary.org/obo/UBERON_0007647>))
-SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0002363> ObjectSomeValuesFrom(<http://semanticscience.org/resource/SIO_000658> <http://purl.obolibrary.org/obo/UBERON_0010115>))
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0002363> ObjectSomeValuesFrom(<http://semanticscience.org/resource/SIO_000658> <http://purl.obolibrary.org/obo/UBERON_0007647>))
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#date_retrieved> "2012-09-17"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#external_class> "VHOG:0001146"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#ontology> "VHOG"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#source> <http://bgee.unil.ch/>) <http://purl.obolibrary.org/obo/UBPROP_0000001> <http://purl.obolibrary.org/obo/UBERON_0002364> "The thin membrane which closes externally the cavity of the middle ear and is deeply sited at the bottom of the external auditory meatus. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG]"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0002364> "XAO:0000212"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#inSubset> <http://purl.obolibrary.org/obo/UBERON_0002364> <http://purl.obolibrary.org/obo/uberon/core#organ_slim>)
@@ -56722,6 +56744,7 @@
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/UBERON_0002386> "antebrachial region"^^xsd:string)
 EquivalentClasses(<http://purl.obolibrary.org/obo/UBERON_0002386> ObjectIntersectionOf(ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0002102>) <http://purl.obolibrary.org/obo/UBERON_0002471>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0002386> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0001460>))
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0002386> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/uberon/core#has_skeleton> <http://purl.obolibrary.org/obo/UBERON_0010703>))
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "OBOL:automatic"^^xsd:string) <http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/UBERON_0002387> "hindlimb autopod"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0002387> "EFO:0003065"^^xsd:string)
 AnnotationAssertion(<http://purl.obolibrary.org/obo/UBPROP_0000007> <http://purl.obolibrary.org/obo/UBERON_0002387> "pedal"^^xsd:string)
@@ -56763,6 +56786,7 @@
 AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/UBERON_0002387> "pes"^^xsd:string)
 EquivalentClasses(<http://purl.obolibrary.org/obo/UBERON_0002387> ObjectIntersectionOf(ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0002103>) <http://purl.obolibrary.org/obo/UBERON_0002470>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0002387> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002202> <http://purl.obolibrary.org/obo/UBERON_0006871>))
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0002387> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/uberon/core#has_skeleton> <http://purl.obolibrary.org/obo/UBERON_0001445>))
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0002389> "NIF_GrossAnatomy:nlx_anat_20090602"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0002389> "GAID:57"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0002389> "BTO:0004669"^^xsd:string)
@@ -57125,6 +57149,7 @@
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0002398> <http://www.snomedbrowser.com/Codes...
 
[truncated message content]

[Obo-svn-commit] SF.net SVN: obo:[5145] uberon/releases/2014-05-03/

[<cmu...@us...>]

Revision: 5145
          http://sourceforge.net/p/obo/svn/5145
Author:   cmungall
Date:     2014-05-04 01:30:24 +0000 (Sun, 04 May 2014)
Log Message:
-----------
new release

Added Paths:
-----------
    uberon/releases/2014-05-03/

This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.

[Obo-svn-commit] SF.net SVN: obo:[5143] uberon/releases/2014-04-30/

[<cmu...@us...>]

Revision: 5143
          http://sourceforge.net/p/obo/svn/5143
Author:   cmungall
Date:     2014-04-30 16:59:39 +0000 (Wed, 30 Apr 2014)
Log Message:
-----------
new release

Added Paths:
-----------
    uberon/releases/2014-04-30/

This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.

[Obo-svn-commit] SF.net SVN: obo:[5141] phenotype-commons/annotations/OMIM/by-disease/ annotated/OMIM-300571.tab

[<pr...@us...>]

Revision: 5141
          http://sourceforge.net/p/obo/svn/5141
Author:   probins
Date:     2014-04-29 06:17:30 +0000 (Tue, 29 Apr 2014)
Log Message:
-----------
deleting 300571 because it moved to 615465

Removed Paths:
-------------
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300571.tab

Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300571.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300571.tab	2014-04-25 05:05:06 UTC (rev 5140)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300571.tab	2014-04-29 06:17:30 UTC (rev 5141)
@@ -1,27 +0,0 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:300571	HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE					HP:0000028	Cryptorchidism			IEA	IEA							OMIM:300571	HPO	17.02.2009
-OMIM:300571	HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE					HP:0000047	Hypospadias			IEA	IEA							OMIM:300571	HPO	17.02.2009
-OMIM:300571	HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE					HP:0000054	Micropenis			IEA	IEA							OMIM:300571	HPO	17.02.2009
-OMIM:300571	HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE					HP:0000175	Cleft palate			IEA	IEA							OMIM:300571	HPO	17.02.2009
-OMIM:300571	HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE					HP:0000204	Cleft upper lip			IEA	IEA							OMIM:300571	HPO	17.02.2009
-OMIM:300571	HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE					HP:0000252	Microcephaly			IEA	IEA							OMIM:300571	HPO	17.02.2009
-OMIM:300571	HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE					HP:0000286	Epicanthus			IEA	IEA							OMIM:300571	HPO	17.02.2009
-OMIM:300571	HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE					HP:0000316	Hypertelorism			IEA	IEA							OMIM:300571	HPO	17.02.2009
-OMIM:300571	HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE					HP:0000358	Posteriorly rotated ears			IEA	IEA							OMIM:300571	HPO	17.02.2009
-OMIM:300571	HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE					HP:0000369	Low-set ears			IEA	IEA							OMIM:300571	HPO	17.02.2009
-OMIM:300571	HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE					HP:0000445	Broad nose			IEA	IEA							OMIM:300571	HPO	17.02.2009
-OMIM:300571	HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE					HP:0000601	Hypotelorism			IEA	IEA							OMIM:300571	HPO:skoehler	18.06.2010
-OMIM:300571	HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE					HP:0000873	Diabetes insipidus			IEA	IEA							OMIM:300571	HPO:skoehler	18.06.2010
-OMIM:300571	HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE					HP:0001171	Ectrodactyly (hands)			IEA	IEA							OMIM:300571	HPO	17.02.2009
-OMIM:300571	HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE					HP:0001263	Global developmental delay			IEA	IEA							OMIM:300571	HPO	17.02.2009
-OMIM:300571	HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE					HP:0001274	Agenesis of corpus callosum			IEA	IEA							OMIM:300571	HPO:skoehler	18.06.2010
-OMIM:300571	HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE					HP:0001319	Neonatal hypotonia			IEA	IEA							OMIM:300571	HPO	17.02.2009
-OMIM:300571	HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE					HP:0001363	Craniosynostosis			IEA	IEA							OMIM:300571	HPO	17.02.2009
-OMIM:300571	HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE					HP:0001417	X-linked inheritance			IEA	IEA							OMIM:300571	HPO	17.02.2009
-OMIM:300571	HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE					HP:0001420	Isolated cases			IEA	IEA							OMIM:300571	HPO	17.02.2009
-OMIM:300571	HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE					HP:0001770	Toe syndactyly			IEA	IEA							OMIM:300571	HPO	17.02.2009
-OMIM:300571	HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE					HP:0001839	Ectrodactyly (feet)			IEA	IEA							OMIM:300571	HPO	17.02.2009
-OMIM:300571	HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE					HP:0003228	Hypernatremia			IEA	IEA							OMIM:300571	HPO	17.02.2009
-OMIM:300571	HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE					HP:0005466	Frontal bone hypoplasia			IEA	IEA							OMIM:300571	HPO	17.02.2009
-OMIM:300571	HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE					HP:0006870	Lobar holoprosencephaly			IEA	IEA							OMIM:300571	HPO	17.02.2009
-OMIM:300571	HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE					HP:0008192	Gonadotropin deficiency			IEA	IEA							OMIM:300571	HPO	17.02.2009

This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.

[Obo-svn-commit] SF.net SVN: obo:[5140] uberon/trunk/core.owl

[<cmu...@us...>]

Revision: 5140
          http://sourceforge.net/p/obo/svn/5140
Author:   cmungall
Date:     2014-04-25 05:05:06 +0000 (Fri, 25 Apr 2014)
Log Message:
-----------
intermediate release

Modified Paths:
--------------
    uberon/trunk/core.owl

Modified: uberon/trunk/core.owl
===================================================================
--- uberon/trunk/core.owl	2014-04-24 18:30:26 UTC (rev 5139)
+++ uberon/trunk/core.owl	2014-04-25 05:05:06 UTC (rev 5140)
@@ -131,6 +131,7 @@
 Annotation(<http://purl.org/dc/elements/1.1/source> "ISBN:978-0-12-369548-2 Principles of Developmental Genetics, Sally A Moody"^^xsd:string)
 Annotation(<http://www.geneontology.org/formats/oboInOwl#treat-xrefs-as-reverse-genus-differentia> "WBls part_of NCBITaxon:6237"^^xsd:string)
 Annotation(<http://www.geneontology.org/formats/oboInOwl#treat-xrefs-as-equivalent> "CARO"^^xsd:string)
+Annotation(<http://www.geneontology.org/formats/oboInOwl#treat-xrefs-as-equivalent> "AEO"^^xsd:string)
 Annotation(<http://purl.org/dc/elements/1.1/source> <http://purl.obolibrary.org/obo/aeo.owl>)
 Annotation(<http://purl.org/dc/elements/1.1/source> <http://purl.obolibrary.org/obo/fma.owl>)
 Annotation(<http://purl.org/dc/elements/1.1/creator> "Aurelie Comte"^^xsd:string)
@@ -428,6 +429,7 @@
 Declaration(Class(<http://purl.obolibrary.org/obo/GO_0008003>))
 Declaration(Class(<http://purl.obolibrary.org/obo/GO_0008004>))
 Declaration(Class(<http://purl.obolibrary.org/obo/GO_0008015>))
+Declaration(Class(<http://purl.obolibrary.org/obo/GO_0008150>))
 Declaration(Class(<http://purl.obolibrary.org/obo/GO_0008217>))
 Declaration(Class(<http://purl.obolibrary.org/obo/GO_0008283>))
 Declaration(Class(<http://purl.obolibrary.org/obo/GO_0008355>))
@@ -4041,7 +4043,6 @@
 Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0004142>))
 Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0004145>))
 Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0004146>))
-Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0004147>))
 Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0004148>))
 Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0004149>))
 Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0004150>))
@@ -10134,6 +10135,22 @@
 Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0016630>))
 Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0016631>))
 Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0016632>))
+Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0016633>))
+Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0016634>))
+Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0016635>))
+Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0016636>))
+Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0016637>))
+Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0016641>))
+Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0016824>))
+Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0016825>))
+Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0016826>))
+Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0016827>))
+Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0016832>))
+Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0016843>))
+Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0016848>))
+Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0016849>))
+Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0016850>))
+Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_0016851>))
 Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_1000000>))
 Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_1000001>))
 Declaration(Class(<http://purl.obolibrary.org/obo/UBERON_1000002>))
@@ -10237,6 +10254,7 @@
 Declaration(ObjectProperty(<http://purl.obolibrary.org/obo/RO_0001015>))
 Declaration(ObjectProperty(<http://purl.obolibrary.org/obo/RO_0001019>))
 Declaration(ObjectProperty(<http://purl.obolibrary.org/obo/RO_0001025>))
+Declaration(ObjectProperty(<http://purl.obolibrary.org/obo/RO_0002002>))
 Declaration(ObjectProperty(<http://purl.obolibrary.org/obo/RO_0002005>))
 Declaration(ObjectProperty(<http://purl.obolibrary.org/obo/RO_0002007>))
 Declaration(ObjectProperty(<http://purl.obolibrary.org/obo/RO_0002082>))
@@ -10249,9 +10267,11 @@
 Declaration(ObjectProperty(<http://purl.obolibrary.org/obo/RO_0002159>))
 Declaration(ObjectProperty(<http://purl.obolibrary.org/obo/RO_0002160>))
 Declaration(ObjectProperty(<http://purl.obolibrary.org/obo/RO_0002162>))
+Declaration(ObjectProperty(<http://purl.obolibrary.org/obo/RO_0002170>))
 Declaration(ObjectProperty(<http://purl.obolibrary.org/obo/RO_0002177>))
 Declaration(ObjectProperty(<http://purl.obolibrary.org/obo/RO_0002178>))
 Declaration(ObjectProperty(<http://purl.obolibrary.org/obo/RO_0002179>))
+Declaration(ObjectProperty(<http://purl.obolibrary.org/obo/RO_0002180>))
 Declaration(ObjectProperty(<http://purl.obolibrary.org/obo/RO_0002202>))
 Declaration(ObjectProperty(<http://purl.obolibrary.org/obo/RO_0002203>))
 Declaration(ObjectProperty(<http://purl.obolibrary.org/obo/RO_0002207>))
@@ -10282,10 +10302,9 @@
 Declaration(ObjectProperty(<http://purl.obolibrary.org/obo/RO_0002387>))
 Declaration(ObjectProperty(<http://purl.obolibrary.org/obo/RO_0002388>))
 Declaration(ObjectProperty(<http://purl.obolibrary.org/obo/RO_0002433>))
+Declaration(ObjectProperty(<http://purl.obolibrary.org/obo/RO_0002473>))
 Declaration(ObjectProperty(<http://purl.obolibrary.org/obo/RO_0003000>))
 Declaration(ObjectProperty(<http://purl.obolibrary.org/obo/RO_0003001>))
-Declaration(ObjectProperty(<http://purl.obolibrary.org/obo/UBREL_0000001>))
-Declaration(ObjectProperty(<http://purl.obolibrary.org/obo/UBREL_0000002>))
 Declaration(ObjectProperty(<http://purl.obolibrary.org/obo/uberon/core#anteriorly_connected_to>))
 Declaration(ObjectProperty(<http://purl.obolibrary.org/obo/uberon/core#channel_for>))
 Declaration(ObjectProperty(<http://purl.obolibrary.org/obo/uberon/core#channels_from>))
@@ -10330,6 +10349,7 @@
 Declaration(AnnotationProperty(<http://purl.obolibrary.org/obo/RO_0002173>))
 Declaration(AnnotationProperty(<http://purl.obolibrary.org/obo/RO_0002174>))
 Declaration(AnnotationProperty(<http://purl.obolibrary.org/obo/RO_0002175>))
+Declaration(AnnotationProperty(<http://purl.obolibrary.org/obo/RO_0002475>))
 Declaration(AnnotationProperty(<http://purl.obolibrary.org/obo/UBPROP_0000001>))
 Declaration(AnnotationProperty(<http://purl.obolibrary.org/obo/UBPROP_0000002>))
 Declaration(AnnotationProperty(<http://purl.obolibrary.org/obo/UBPROP_0000003>))
@@ -10354,7 +10374,6 @@
 Declaration(AnnotationProperty(<http://purl.obolibrary.org/obo/UBPROP_0000111>))
 Declaration(AnnotationProperty(<http://purl.obolibrary.org/obo/UBPROP_0000112>))
 Declaration(AnnotationProperty(<http://purl.obolibrary.org/obo/UBPROP_0000113>))
-Declaration(AnnotationProperty(<http://purl.obolibrary.org/obo/UBREL_0000003>))
 Declaration(AnnotationProperty(<http://purl.obolibrary.org/obo/uberon/core#ABBREVIATION>))
 Declaration(AnnotationProperty(<http://purl.obolibrary.org/obo/uberon/core#DEPRECATED>))
 Declaration(AnnotationProperty(<http://purl.obolibrary.org/obo/uberon/core#DEVELOPMENTAL>))
@@ -10451,6 +10470,7 @@
 Declaration(AnnotationProperty(<http://www.geneontology.org/formats/oboInOwl#is_inferred>))
 Declaration(AnnotationProperty(<http://www.geneontology.org/formats/oboInOwl#is_metadata_tag>))
 Declaration(AnnotationProperty(<http://www.geneontology.org/formats/oboInOwl#is_redundant>))
+Declaration(AnnotationProperty(<http://www.geneontology.org/formats/oboInOwl#min_cardinality>))
 Declaration(AnnotationProperty(<http://www.geneontology.org/formats/oboInOwl#min_count>))
 Declaration(AnnotationProperty(<http://www.geneontology.org/formats/oboInOwl#missing_from>))
 Declaration(AnnotationProperty(<http://www.geneontology.org/formats/oboInOwl#modified_from>))
@@ -10739,7 +10759,7 @@
 AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/UBERON_0000009> "submucosa"^^xsd:string)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000009> <http://purl.obolibrary.org/obo/UBERON_0004923>)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000009> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002160> <http://purl.obolibrary.org/obo/NCBITaxon_7711>))
-SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000009> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/UBREL_0000002> <http://purl.obolibrary.org/obo/UBERON_0011822>))
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000009> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002473> <http://purl.obolibrary.org/obo/UBERON_0011822>))
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000010> "MA:0000218"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000010> "FMA:9903"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000010> "AAO:0000429"^^xsd:string)
@@ -11029,7 +11049,7 @@
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#id> <http://purl.obolibrary.org/obo/UBERON_0000018> "UBERON:0000018"^^xsd:string)
 AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/UBERON_0000018> "compound eye"^^xsd:string)
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://en.wikipedia.org/wiki/Compound_eye>) Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "FB:gg"^^xsd:string) <http://purl.obolibrary.org/obo/IAO_0000115> <http://purl.obolibrary.org/obo/UBERON_0000018> "A light sensing organ composed of ommatidia"^^xsd:string)
-EquivalentClasses(<http://purl.obolibrary.org/obo/UBERON_0000018> ObjectIntersectionOf(ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/UBREL_0000002> <http://purl.obolibrary.org/obo/UBERON_0000971>) <http://purl.obolibrary.org/obo/UBERON_0000970>))
+EquivalentClasses(<http://purl.obolibrary.org/obo/UBERON_0000018> ObjectIntersectionOf(ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002473> <http://purl.obolibrary.org/obo/UBERON_0000971>) <http://purl.obolibrary.org/obo/UBERON_0000970>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000018> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002160> <http://purl.obolibrary.org/obo/NCBITaxon_6656>))
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#date_retrieved> "2012-09-17"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#external_class> "VHOG:0000275"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#ontology> "VHOG"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#source> <http://bgee.unil.ch/>) Annotation(<http://www.geneontology.org/formats/oboInOwl#source> "DOI:10.1038/nrn2283 Lamb TD, Collin SP and Pugh EN Jr, Evolution of the vertebrate eye: opsins, photoreceptors, retina and eye cup. Nature Reviews Neuroscience (2007)"^^xsd:string) <http://purl.obolibrary.org/obo/UBPROP_0000003> <http://purl.obolibrary.org/obo/UBERON_0000019> "The eye of the adult lamprey is remarkably similar to our own, and it possesses numerous features (including the expression of opsin genes) that are very similar to those of the eyes of jawed vertebrates. The lamprey's camera-like eye has a lens, an iris and extra-ocular muscles (five of them, unlike the eyes of jawed vertebrates, which have six), although it lacks intra-ocular muscles. Its retina also has a structure very similar to that of the retinas of other vertebrates, with three nuclear layers comprised of the cell bodies of photoreceptors and bipolar, horizontal, amacrine and ganglion cells. The southern hemisphere lamprey, Geotria australis, possesses five morphological classes of retinal photoreceptor and five classes of opsin, each of which is closely related to the opsins of jawed vertebrates. Given these similarities, we reach the inescapable conclusion that the last common ancestor of jawless and jawed vertebrates already possessed an eye that was comparable to that of extant lampreys and gnathostomes. Accordingly, a vertebrate camera-like eye must have been present by the time that lampreys and gnathostomes diverged, around 500 Mya.[well established][VHOG]"^^xsd:string)
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#date_retrieved> "2012-08-14"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#external_class> "TAO:0000107"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#ontology> "TAO"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#source> "TAO:wd"^^xsd:string) <http://purl.obolibrary.org/obo/UBPROP_0000001> <http://purl.obolibrary.org/obo/UBERON_0000019> "A cavitated compound organ that transduces light waves into neural signals.[TAO]"^^xsd:string)
@@ -11271,7 +11291,7 @@
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000030> <http://purl.obolibrary.org/obo/UBERON_0004923>)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000030> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0000344>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000030> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BSPO_0001107> <http://purl.obolibrary.org/obo/UBERON_0000483>))
-SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000030> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/UBREL_0000002> <http://purl.obolibrary.org/obo/UBERON_0011825>))
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000030> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002473> <http://purl.obolibrary.org/obo/UBERON_0011825>))
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "OBOL:automatic"^^xsd:string) <http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/UBERON_0000031> "lamina propria mucosae of windpipe"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000031> "ncithesaurus:Trachea_Lamina_Propria"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/UBERON_0000031> "trachea lamina propria"^^xsd:string)
@@ -11455,9 +11475,11 @@
 AnnotationAssertion(rdfs:comment <http://purl.obolibrary.org/obo/UBERON_0000040> "Taxon notes:  Found in elasmobranchs (sharks and rays) but with some exceptions. Phenotype notes: Leydig's organ can be quite large - a 1.6-kilogram (3.5-pound) one was reported from a 1.8-metre (6-foot) long Bluntnose Sixgill Shark (Hexanchus griseus). Structure notes: divided into dorsal and ventral patches, gradation varies between species. Lacks erythroblasts and fat cells[Honma 1983]"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#inSubset> <http://purl.obolibrary.org/obo/UBERON_0000040> <http://purl.obolibrary.org/obo/uberon/core#uberon_slim>)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000040> <http://purl.obolibrary.org/obo/UBERON_0004177>)
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000040> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0002390>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000040> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0002405>))
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000040> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0001025> <http://purl.obolibrary.org/obo/UBERON_0001096>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000040> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002160> <http://purl.obolibrary.org/obo/NCBITaxon_7778>))
-SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000040> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/UBREL_0000002> <http://purl.obolibrary.org/obo/CL_0000738>))
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000040> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002473> <http://purl.obolibrary.org/obo/CL_0000738>))
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasOBONamespace> <http://purl.obolibrary.org/obo/UBERON_0000041> "uberon"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000041> "VSAO:0000079"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000041> <http://en.wikipedia.org/wiki/Dermal_denticle>)
@@ -11989,18 +12011,21 @@
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#source> "ncithesaurus:Organ"^^xsd:string) <http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000062> "UMLS:C0178784"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000062> "MA:0003001"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000062> "ncithesaurus:Organ"^^xsd:string)
-AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://en.wikipedia.org/wiki/Organ_(anatomy)>) Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "GO:0048513"^^xsd:string) <http://purl.obolibrary.org/obo/IAO_0000115> <http://purl.obolibrary.org/obo/UBERON_0000062> "Anatomical structure that performs a specific function or group of functions [WP]. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions[GO]."^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym> <http://purl.obolibrary.org/obo/UBERON_0000062> "element"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#inSubset> <http://purl.obolibrary.org/obo/UBERON_0000062> <http://purl.obolibrary.org/obo/uberon/core#upper_level>)
 AnnotationAssertion(rdfs:comment <http://purl.obolibrary.org/obo/UBERON_0000062> "note that CARO does not include a generic 'organ' class, only simple and compound organ"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym> <http://purl.obolibrary.org/obo/UBERON_0000062> "body organ"^^xsd:string)
+AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#source> "GO:0048513"^^xsd:string) <http://purl.obolibrary.org/obo/UBPROP_0000001> <http://purl.obolibrary.org/obo/UBERON_0000062> "Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions."^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000062> "NIF_GrossAnatomy:birnlex_4"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000062> "OpenCyc:Mx4rwP3iWpwpEbGdrcN5Y29ycA"^^xsd:string)
+AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://en.wikipedia.org/wiki/Organ_(anatomy)>) <http://purl.obolibrary.org/obo/IAO_0000115> <http://purl.obolibrary.org/obo/UBERON_0000062> "Anatomical structure that performs a specific function or group of functions [WP]."^^xsd:string)
 AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/UBERON_0000062> "organ"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000062> <http://www.snomedbrowser.com/Codes/Details/272625005>)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000062> <http://linkedlifedata.com/resource/umls/id/C0178784>)
-SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000062> <http://purl.obolibrary.org/obo/UBERON_0000061>)
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000062> <http://purl.obolibrary.org/obo/UBERON_0010000>)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000062> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0000467>))
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000062> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002002> <http://purl.obolibrary.org/obo/UBERON_0006984>))
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000062> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002215> <http://purl.obolibrary.org/obo/GO_0008150>))
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "FMA:86140"^^xsd:string) <http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/UBERON_0000063> "organ region with fixed fiat boundary"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#inSubset> <http://purl.obolibrary.org/obo/UBERON_0000063> <http://purl.obolibrary.org/obo/uberon/core#upper_level>)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#id> <http://purl.obolibrary.org/obo/UBERON_0000063> "UBERON:0000063"^^xsd:string)
@@ -12025,7 +12050,7 @@
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000064> <http://www.snomedbrowser.com/Codes/Details/91717005>)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000064> "FMA:82472"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#id> <http://purl.obolibrary.org/obo/UBERON_0000064> "UBERON:0000064"^^xsd:string)
-SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000064> <http://purl.obolibrary.org/obo/UBERON_0000061>)
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000064> <http://purl.obolibrary.org/obo/UBERON_0010000>)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000064> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0000062>))
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000065> "EMAPA:16737"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000065> <http://www.snomedbrowser.com/Codes/Details/361110005>)
@@ -12048,13 +12073,13 @@
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000066> "BilaDO:0000004"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#id> <http://purl.obolibrary.org/obo/UBERON_0000066> "UBERON:0000066"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasOBONamespace> <http://purl.obolibrary.org/obo/UBERON_0000066> "uberon"^^xsd:string)
-AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <https://orcid.org/0000-0002-6601-2165>) <http://purl.obolibrary.org/obo/IAO_0000115> <http://purl.obolibrary.org/obo/UBERON_0000066> "The stage of development at which the animal is fully formed, including immaturity and maturity. Includes both juvenile stage, and adult stage. "^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000066> "EFO:0001272"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000066> "WBls:0000041"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000066> "BTO:0001043"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/UBERON_0000066> "juvenile-adult stage"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000066> "FBdv:00005369"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/UBERON_0000066> "fully formed animal stage"^^xsd:string)
+AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <https://orcid.org/0000-0002-6601-2165>) <http://purl.obolibrary.org/obo/IAO_0000115> <http://purl.obolibrary.org/obo/UBERON_0000066> "The stage of development at which the animal is fully formed, including immaturity and maturity. Includes both sexually immature stage, and adult stage. "^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasBroadSynonym> <http://purl.obolibrary.org/obo/UBERON_0000066> "adult stage"^^xsd:string)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000066> <http://purl.obolibrary.org/obo/UBERON_0000092>)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000066> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000062> <http://purl.obolibrary.org/obo/UBERON_0000111>))
@@ -12573,7 +12598,7 @@
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000088> <http://purl.obolibrary.org/obo/UBERON_0002050>)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000088> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0000358>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000088> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002202> <http://purl.obolibrary.org/obo/UBERON_0004345>))
-SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000088> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/UBREL_0000002> <http://purl.obolibrary.org/obo/CL_0000351>))
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000088> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002473> <http://purl.obolibrary.org/obo/CL_0000351>))
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000089> "EFO:0001930"^^xsd:string)
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#date_retrieved> "2012-08-14"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#external_class> "TAO:0000117"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#ontology> "TAO"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#source> "ZFIN:curator"^^xsd:string) <http://purl.obolibrary.org/obo/UBPROP_0000001> <http://purl.obolibrary.org/obo/UBERON_0000089> "The inner of the two layers of the blastoderm that forms during gastrulation and give rise to the definitive mesoderm and endoderm. Kimmel et al, 1995.[TAO]"^^xsd:string)
 AnnotationAssertion(<http://xmlns.com/foaf/0.1/depicted_by> <http://purl.obolibrary.org/obo/UBERON_0000089> <http://upload.wikimedia.org/wikipedia/commons/e/e3/Gray21.png>)
@@ -12691,7 +12716,7 @@
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "FMA:7145"^^xsd:string) <http://purl.obolibrary.org/obo/IAO_0000115> <http://purl.obolibrary.org/obo/UBERON_0000094> "Nonparenchymatous organ that primarily consists of dense connective tissue organized into a sheet which interconnects two or more organs, separates two or more body spaces from one another, or surrounds an organ or body part. Examples: interosseous membrane of forearm, obturator membrane, tympanic membrane, fibrous pericardium, fascia lata, dura mater. [FMA]"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#creation_date> <http://purl.obolibrary.org/obo/UBERON_0000094> "2009-07-30T05:19:13Z"^^xsd:string)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000094> <http://purl.obolibrary.org/obo/UBERON_0000062>)
-SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000094> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/UBREL_0000002> <http://purl.obolibrary.org/obo/UBERON_0011823>))
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000094> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002473> <http://purl.obolibrary.org/obo/UBERON_0011823>))
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#creation_date> <http://purl.obolibrary.org/obo/UBERON_0000095> "2009-07-30T07:57:38Z"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#created_by> <http://purl.obolibrary.org/obo/UBERON_0000095> "cjm"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000095> "TAO:0002173"^^xsd:string)
@@ -12929,6 +12954,7 @@
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000111> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000062> <http://purl.obolibrary.org/obo/UBERON_0000110>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000111> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002082> <http://purl.obolibrary.org/obo/GO_0048513>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000111> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002160> <http://purl.obolibrary.org/obo/NCBITaxon_6072>))
+AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "XAO:1000010"^^xsd:string) <http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/UBERON_0000112> "juvenile stage"^^xsd:string)
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#source> "XAO:1000010"^^xsd:string) <http://purl.obolibrary.org/obo/UBPROP_0000001> <http://purl.obolibrary.org/obo/UBERON_0000112> "The stage of being a sexually immature adult animal[XAO:1000010]."^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000112> "XtroDO:0000083"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000112> "EV:0300051"^^xsd:string)
@@ -12941,10 +12967,10 @@
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000112> "ZFS:0000051"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000112> "BILS:0000112"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000112> "TS28"^^xsd:string)
+AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/UBERON_0000112> "sexually immature stage"^^xsd:string)
+AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000112> "BTO:0002168"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000112> "XAO:1000010"^^xsd:string)
-AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000112> "BTO:0002168"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000112> "MmusDv:0000043"^^xsd:string)
-AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/UBERON_0000112> "juvenile stage"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000112> "OGES:000009"^^xsd:string)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000112> <http://purl.obolibrary.org/obo/UBERON_0000105>)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000112> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0000066>))
@@ -13160,7 +13186,7 @@
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000125> <http://purl.obolibrary.org/obo/UBERON_0011215>)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000125> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0001017>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000125> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002160> <http://purl.obolibrary.org/obo/NCBITaxon_7711>))
-SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000125> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/UBREL_0000002> <http://purl.obolibrary.org/obo/UBERON_0002020>))
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000125> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002473> <http://purl.obolibrary.org/obo/UBERON_0002020>))
 AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/UBERON_0000126> "cranial nerve nucleus"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000126> <http://en.wikipedia.org/wiki/Cranial_nerve_nucleus>)
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://en.wikipedia.org/wiki/Cranial_nerve_nucleus>) Annotation(<http://www.geneontology.org/formats/oboInOwl#hasSynonymType> <http://purl.obolibrary.org/obo/uberon/core#LATIN>) <http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym> <http://purl.obolibrary.org/obo/UBERON_0000126> "nucleus nervi cranialis"^^xsd:string)
@@ -13213,7 +13239,7 @@
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#id> <http://purl.obolibrary.org/obo/UBERON_0000128> "UBERON:0000128"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasOBONamespace> <http://purl.obolibrary.org/obo/UBERON_0000128> "uberon"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000128> <http://www.snomedbrowser.com/Codes/Details/279293003>)
-SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000128> <http://purl.obolibrary.org/obo/UBERON_0000061>)
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000128> <http://purl.obolibrary.org/obo/UBERON_0010000>)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000128> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0001896>))
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://en.wikipedia.org/wiki/Transverse_foramen>) <http://purl.obolibrary.org/obo/IAO_0000115> <http://purl.obolibrary.org/obo/UBERON_0000130> "Foramen that pierces the transverse processes of the seven cervical vertebrae. In the upper six vertebrae, the foramen gives passage to the vertebral artery, vertebral vein, and a plexus of sympathetic nerves. The seventh foramen lacks the artery, but contains the vein and sympathetic nerves."^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasOBONamespace> <http://purl.obolibrary.org/obo/UBERON_0000130> "uberon"^^xsd:string)
@@ -13866,7 +13892,7 @@
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#created_by> <http://purl.obolibrary.org/obo/UBERON_0000201> "cjm"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#creation_date> <http://purl.obolibrary.org/obo/UBERON_0000201> "2009-04-10T08:15:44Z"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000201> "NIF_Subcellular:nlx_subcell_100205"^^xsd:string)
-EquivalentClasses(<http://purl.obolibrary.org/obo/UBERON_0000201> ObjectIntersectionOf(ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/UBREL_0000002> <http://purl.obolibrary.org/obo/CL_0000115>) <http://purl.obolibrary.org/obo/UBERON_0000120>))
+EquivalentClasses(<http://purl.obolibrary.org/obo/UBERON_0000201> ObjectIntersectionOf(ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002473> <http://purl.obolibrary.org/obo/CL_0000115>) <http://purl.obolibrary.org/obo/UBERON_0000120>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000201> <http://purl.obolibrary.org/obo/UBERON_0000120>)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasOBONamespace> <http://purl.obolibrary.org/obo/UBERON_0000202> "uberon"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#creation_date> <http://purl.obolibrary.org/obo/UBERON_0000202> "2009-04-10T08:42:24Z"^^xsd:string)
@@ -13875,7 +13901,7 @@
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000202> "FBbt:00007091"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#created_by> <http://purl.obolibrary.org/obo/UBERON_0000202> "cjm"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#id> <http://purl.obolibrary.org/obo/UBERON_0000202> "UBERON:0000202"^^xsd:string)
-EquivalentClasses(<http://purl.obolibrary.org/obo/UBERON_0000202> ObjectIntersectionOf(ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/UBREL_0000002> <http://purl.obolibrary.org/obo/CL_0000124>) <http://purl.obolibrary.org/obo/UBERON_0000120>))
+EquivalentClasses(<http://purl.obolibrary.org/obo/UBERON_0000202> ObjectIntersectionOf(ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002473> <http://purl.obolibrary.org/obo/CL_0000124>) <http://purl.obolibrary.org/obo/UBERON_0000120>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000202> <http://purl.obolibrary.org/obo/UBERON_0000120>)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasAlternativeId> <http://purl.obolibrary.org/obo/UBERON_0000203> "UBERON:0007333"^^xsd:string)
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#source> <http://www.ncbi.nlm.nih.gov/pubmed/8932866>) <http://purl.obolibrary.org/obo/RO_0002175> <http://purl.obolibrary.org/obo/UBERON_0000203> <http://purl.obolibrary.org/obo/NCBITaxon_7762>)
@@ -14291,7 +14317,7 @@
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000312> <http://purl.obolibrary.org/obo/UBERON_0000158>)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000312> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0002515>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000312> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000051> <http://purl.obolibrary.org/obo/CL_0007010>))
-SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000312> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/UBREL_0000002> <http://purl.obolibrary.org/obo/UBERON_0011824>))
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000312> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002473> <http://purl.obolibrary.org/obo/UBERON_0011824>))
 AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/UBERON_0000313> "tibial cartilage tissue"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#id> <http://purl.obolibrary.org/obo/UBERON_0000313> "UBERON:0000313"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000313> "BTO:0000207"^^xsd:string)
@@ -14562,7 +14588,7 @@
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "BTO:0000635"^^xsd:string) <http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym> <http://purl.obolibrary.org/obo/UBERON_0000332> "fat marrow"^^xsd:string)
 AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/UBERON_0000332> "yellow bone marrow"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000332> "BTO:0000635"^^xsd:string)
-EquivalentClasses(<http://purl.obolibrary.org/obo/UBERON_0000332> ObjectIntersectionOf(ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/UBREL_0000002> <http://purl.obolibrary.org/obo/CL_0000136>) <http://purl.obolibrary.org/obo/UBERON_0002371>))
+EquivalentClasses(<http://purl.obolibrary.org/obo/UBERON_0000332> ObjectIntersectionOf(ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002473> <http://purl.obolibrary.org/obo/CL_0000136>) <http://purl.obolibrary.org/obo/UBERON_0002371>))
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "BTO:0000640"^^xsd:string) <http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym> <http://purl.obolibrary.org/obo/UBERON_0000333> "crypt of Lieberkuehn"^^xsd:string)
 AnnotationAssertion(rdfs:comment <http://purl.obolibrary.org/obo/UBERON_0000333> "Note that some sources treat 'intestinal gland' as synonymous with"^^xsd:string)
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "OBOL:automatic"^^xsd:string) <http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/UBERON_0000333> "bowel mucosa gland"^^xsd:string)
@@ -14912,7 +14938,7 @@
 AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/UBERON_0000361> "red bone marrow"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000361> <http://www.snomedbrowser.com/Codes/Details/328538003>)
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "BTO:0001160"^^xsd:string) <http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym> <http://purl.obolibrary.org/obo/UBERON_0000361> "red marrow"^^xsd:string)
-EquivalentClasses(<http://purl.obolibrary.org/obo/UBERON_0000361> ObjectIntersectionOf(ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/UBREL_0000002> <http://purl.obolibrary.org/obo/CL_0000988>) <http://purl.obolibrary.org/obo/UBERON_0002371>))
+EquivalentClasses(<http://purl.obolibrary.org/obo/UBERON_0000361> ObjectIntersectionOf(ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002473> <http://purl.obolibrary.org/obo/CL_0000988>) <http://purl.obolibrary.org/obo/UBERON_0002371>))
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://en.wikipedia.org/wiki/Renal_medulla>) <http://purl.obolibrary.org/obo/IAO_0000115> <http://purl.obolibrary.org/obo/UBERON_0000362> "The renal medulla is the innermost part of the kidney. The renal medulla is split up into a number of sections, known as the renal pyramids. Blood enters into the kidney via the renal artery, which then splits up to form the arcuate arterioles. The arcuate arterioles each in turn branch into interlobular arterioles, which finally reach the glomeruli. At the glomerulus the blood reaches a highly disfavourable pressure gradient and a large exchange surface area, which forces the serum portion of the blood out of the vessel into the renal tubules. Flow continues through the renal tubules, including the proximal tubule, the Loop of Henle, and finally leaves the kidney by means of the collecting duct, leading to the renal ureter. The renal medulla (latin renes medulla = kidney middle) contains the structures of the nephrons responsible for maintaining the salt and water balance of the blood. The renal medulla is hypertonic to the filtrate in the nephron and aids in the reabsorption of water. [WP,unvetted]."^^xsd:string)
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "OBOL:automatic"^^xsd:string) <http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/UBERON_0000362> "medulla of kidney"^^xsd:string)
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "OBOL:automatic"^^xsd:string) <http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/UBERON_0000362> "kidney medulla"^^xsd:string)
@@ -14942,7 +14968,7 @@
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000362> "ncithesaurus:Renal_Medulla"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000362> "CALOHA:TS-1157"^^xsd:string)
 EquivalentClasses(<http://purl.obolibrary.org/obo/UBERON_0000362> ObjectIntersectionOf(ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0002113>) <http://purl.obolibrary.org/obo/UBERON_0000958>))
-SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000362> <http://purl.obolibrary.org/obo/UBERON_0000061>)
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000362> <http://purl.obolibrary.org/obo/UBERON_0010000>)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000362> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002216> <http://purl.obolibrary.org/obo/GO_0070295>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000362> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002433> <http://purl.obolibrary.org/obo/UBERON_0002113>))
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#id> <http://purl.obolibrary.org/obo/UBERON_0000363> "UBERON:0000363"^^xsd:string)
@@ -15106,7 +15132,7 @@
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000371> <http://purl.obolibrary.org/obo/UBERON_0002050>)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000371> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0000088>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000371> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0004364>))
-SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000371> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/UBREL_0000002> <http://purl.obolibrary.org/obo/CL_0000525>))
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000371> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002473> <http://purl.obolibrary.org/obo/CL_0000525>))
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#id> <http://purl.obolibrary.org/obo/UBERON_0000372> "UBERON:0000372"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasOBONamespace> <http://purl.obolibrary.org/obo/UBERON_0000372> "uberon"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/UBERON_0000372> "extensor digitorum brevis muscle"^^xsd:string)
@@ -15425,9 +15451,9 @@
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000387> "BTO:0001592"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000387> "EV:0100145"^^xsd:string)
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "FMA:76690"^^xsd:string) <http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/UBERON_0000387> "articular disc"^^xsd:string)
-SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000387> <http://purl.obolibrary.org/obo/UBERON_0000061>)
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000387> <http://purl.obolibrary.org/obo/UBERON_0010000>)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000387> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0000982>))
-SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000387> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/UBREL_0000002> <http://purl.obolibrary.org/obo/UBERON_0001995>))
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000387> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002473> <http://purl.obolibrary.org/obo/UBERON_0001995>))
 AnnotationAssertion(<http://xmlns.com/foaf/0.1/depicted_by> <http://purl.obolibrary.org/obo/UBERON_0000388> <http://upload.wikimedia.org/wikipedia/commons/e/e2/Gray958.png>)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000388> "BTO:0001628"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000388> "OpenCyc:Mx4rvVjxE5wpEbGdrcN5Y29ycA"^^xsd:string)
@@ -16102,7 +16128,7 @@
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000437> <http://purl.obolibrary.org/obo/UBERON_0004923>)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000437> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0000201>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000437> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0002362>))
-SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000437> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/UBREL_0000002> <http://purl.obolibrary.org/obo/GO_0005923>))
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000437> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002473> <http://purl.obolibrary.org/obo/GO_0005923>))
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasOBONamespace> <http://purl.obolibrary.org/obo/UBERON_0000438> "uberon"^^xsd:string)
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "FMA:77761"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "FMA:TA"^^xsd:string) Annotation(<http://www.geneontology.org/formats/oboInOwl#hasSynonymType> <http://purl.obolibrary.org/obo/uberon/core#LATIN>) <http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/UBERON_0000438> "trabeculae arachnoideae"^^xsd:string)
 AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/UBERON_0000438> "obsolete set of arachnoid trabecula"^^xsd:string)
@@ -16145,9 +16171,9 @@
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "BTO:0002679"^^xsd:string) <http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym> <http://purl.obolibrary.org/obo/UBERON_0000442> "vena testicularis dextra"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000442> "BTO:0002679"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000442> "ncithesaurus:Right_Spermatic_Vein"^^xsd:string)
-EquivalentClasses(<http://purl.obolibrary.org/obo/UBERON_0000442> ObjectIntersectionOf(ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/UBREL_0000001> <http://purl.obolibrary.org/obo/UBERON_0004534>) <http://purl.obolibrary.org/obo/UBERON_0001144>))
+EquivalentClasses(<http://purl.obolibrary.org/obo/UBERON_0000442> ObjectIntersectionOf(ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002170> <http://purl.obolibrary.org/obo/UBERON_0004534>) <http://purl.obolibrary.org/obo/UBERON_0001144>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000442> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BSPO_0000120> <http://purl.obolibrary.org/obo/UBERON_0000468>))
-SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000442> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/UBREL_0000001> <http://purl.obolibrary.org/obo/UBERON_0001142>))
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000442> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002170> <http://purl.obolibrary.org/obo/UBERON_0001142>))
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000443> <http://www.snomedbrowser.com/Codes/Details/90988008>)
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "Dorlands_Medical_Dictionary:MerckSource"^^xsd:string) <http://purl.obolibrary.org/obo/IAO_0000115> <http://purl.obolibrary.org/obo/UBERON_0000443> "A vein that drains the right pampiniform plexus and empties into the inferior vena cava."^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasOBONamespace> <http://purl.obolibrary.org/obo/UBERON_0000443> "uberon"^^xsd:string)
@@ -16160,7 +16186,7 @@
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000443> "ncithesaurus:Left_Spermatic_Vein"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000443> "MA:0002219"^^xsd:string)
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "BTO:0002679"^^xsd:string) <http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym> <http://purl.obolibrary.org/obo/UBERON_0000443> "vena testicularis dextra"^^xsd:string)
-EquivalentClasses(<http://purl.obolibrary.org/obo/UBERON_0000443> ObjectIntersectionOf(ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/UBREL_0000001> <http://purl.obolibrary.org/obo/UBERON_0004533>) <http://purl.obolibrary.org/obo/UBERON_0001144>))
+EquivalentClasses(<http://purl.obolibrary.org/obo/UBERON_0000443> ObjectIntersectionOf(ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002170> <http://purl.obolibrary.org/obo/UBERON_0004533>) <http://purl.obolibrary.org/obo/UBERON_0001144>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000443> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BSPO_0000120> <http://purl.obolibrary.org/obo/UBERON_0000468>))
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasOBONamespace> <http://purl.obolibrary.org/obo/UBERON_0000444> "uberon"^^xsd:string)
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/uberon/tracker/6>) Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/uberon/tracker/7>) <http://purl.obolibrary.org/obo/IAO_0000115> <http://purl.obolibrary.org/obo/UBERON_0000444> "."^^xsd:string)
@@ -16598,8 +16624,7 @@
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#inSubset> <http://purl.obolibrary.org/obo/UBERON_0000468> <http://purl.obolibrary.org/obo/uberon/core#upper_level>)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000468> "BTO:0000042"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym> <http://purl.obolibrary.org/obo/UBERON_0000468> "body"^^xsd:string)
-SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000468> <http://purl.obolibrary.org/obo/UBERON_0000061>)
-SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000468> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0000086> <http://purl.obolibrary.org/obo/PATO_0001993>))
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000468> <http://purl.obolibrary.org/obo/UBERON_0010000>)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000470> "GO:0044464"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000470> "FMA:86454"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000470> "FBbt:00007012"^^xsd:string)
@@ -16621,8 +16646,6 @@
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000470> "CARO:0000014"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000470> "NIF_Subcellular:sao-1337158144"^^xsd:string)
 EquivalentClasses(<http://purl.obolibrary.org/obo/UBERON_0000470> ObjectIntersectionOf(ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/CL_0000000>) <http://purl.obolibrary.org/obo/UBERON_0000061>))
-SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000470> <http://purl.obolibrary.org/obo/UBERON_0000061>)
-SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000470> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/CL_0000000>))
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000471> "HAO:0000019"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000471> "AAO:0010017"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000471> "XAO:0003039"^^xsd:string)
@@ -17001,7 +17024,7 @@
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000482> "ZFA:0001485"^^xsd:string)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000482> <http://purl.obolibrary.org/obo/UBERON_0005764>)
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000482> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0005769>))
-SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000482> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/UBREL_0000002> <http://purl.obolibrary.org/obo/GO_0005605>))
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000482> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002473> <http://purl.obolibrary.org/obo/GO_0005605>))
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasOBONamespace> <http://purl.obolibrary.org/obo/UBERON_0000483> "uberon"^^xsd:string)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000483> "VHOG:0000387"^^xsd:string)
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://en.wikipedia.org/wiki/Epithelium>) Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "CARO:MAH"^^xsd:string) <http://purl.obolibrary.org/obo/IAO_0000115> <http://purl.obolibrary.org/obo/UBERON_0000483> "Portion of tissue, that consists of one or more layers of epithelial cells connected to each other by cell junctions and which is underlain by a basal lamina. Examples: simple squamous epithelium, glandular cuboidal epithelium, transitional epithelium, myoepithelium[CARO]."^^xsd:string)
@@ -18268,7 +18291,7 @@
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/UBERON_0000949> "ZFA:0001158"^^xsd:string)
 EquivalentClasses(<http://purl.obolibrary.org/obo/UBERON_0000949> ObjectIntersectionOf(ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002215> <http://purl.obolibrary.org/obo/GO_0050886>) <http://purl.obolibrary.org/obo/UBERON_0000467>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000949> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002160> <http://purl.obolibrary.org/obo/NCBITaxon_6072>))
-SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000949> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/UBREL_0000002> <http://purl.obolibrary.org/obo/UBERON_0002368>))
+SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000949> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002473> <http://purl.obolibrary.org/obo/UBERON_0002368>))
 DisjointClasses(<http://purl.obolibrary.org/obo/UBERON_0000949> <http://purl.obolibrary.org/obo/UBERON_0000990>)
 DisjointClasses(<http://purl.obolibrary.org/obo/UBERON_0000949> <http://purl.obolibrary.org/obo/UBERON_0001004>)
 DisjointClasses(<http://purl.obolibrary.org/obo/UBERON_0000949> <http://purl.obolibrary.org/obo/UBERON_0001007>)
@@ -18404,7 +18427,7 @@
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000955> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0001017>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000955> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BSPO_0000123> <http://purl.obolibrary.org/obo/UBERON_0000468>))
 SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000955> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002433> <http://purl.obolibrary.org/obo/UBERON_0001016>))
-SubClassOf(<http://purl.obolibrary.org/obo/UBERON_0000955> ObjectSomeValuesFrom(...
 
[truncated message content]

[Obo-svn-commit] SF.net SVN: obo:[5139] uberon/releases/2014-04-23/

[<cmu...@us...>]

Revision: 5139
          http://sourceforge.net/p/obo/svn/5139
Author:   cmungall
Date:     2014-04-24 18:30:26 +0000 (Thu, 24 Apr 2014)
Log Message:
-----------
new release

Added Paths:
-----------
    uberon/releases/2014-04-23/

This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.

[Obo-svn-commit] SF.net SVN: obo:[5137] phenotype-commons/annotations/OMIM/by-disease/ annotated

[<pr...@us...>]

Revision: 5137
          http://sourceforge.net/p/obo/svn/5137
Author:   probins
Date:     2014-04-24 09:15:09 +0000 (Thu, 24 Apr 2014)
Log Message:
-----------
Adding new disease entries

Modified Paths:
--------------
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300863.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603546.tab

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300863.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300863.tab	2014-04-22 20:47:06 UTC (rev 5136)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300863.tab	2014-04-24 09:15:09 UTC (rev 5137)
@@ -1,24 +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	
-OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0000878	11 pairs of ribs			IEA	IEA	rare	male	male			OMIM-CS:CHEST_RIBS, STERNUM, CLAVICLES, AND SCAPULAE > 11 RIB PAIRS IN SOME MALE PATIENTS	OMIM:300863	HPO:skoehler	Oct 14, 2012	
-OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0000883	Thin ribs			IEA	IEA						OMIM-CS:CHEST_RIBS, STERNUM, CLAVICLES, AND SCAPULAE > THIN RIBS	OMIM:300863	HPO:skoehler	Oct 14, 2012	
-OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0004322	Short stature			IEA	IEA						OMIM-CS:GROWTH_HEIGHT > SHORT STATURE	OMIM:300863	HPO:skoehler	Oct 14, 2012	
-OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0001511	Intrauterine growth retardation			IEA	IEA						OMIM-CS:GROWTH_OTHER > INTRAUTERINE GROWTH RETARDATION	OMIM:300863	HPO:skoehler	Oct 14, 2012	
-OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0000369	Low-set ears			IEA	IEA						OMIM-CS:HEAD AND NECK_EARS > LOW-SET EARS	OMIM:300863	HPO:skoehler	Oct 14, 2012	
-OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0000568	Microphthalmos			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > MICROPHTHALMIA	OMIM:300863	HPO:skoehler	Oct 14, 2012	
-OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0002007	Frontal bossing			IEA	IEA						OMIM-CS:HEAD AND NECK_FACE > FRONTAL BOSSING	OMIM:300863	HPO:skoehler	Oct 14, 2012	
-OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0000238	Hydrocephalus			IEA	IEA						OMIM-CS:HEAD AND NECK_HEAD > HYDROCEPHALY	OMIM:300863	HPO:skoehler	Oct 14, 2012	
-OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0000256	Macrocephaly			IEA	IEA						OMIM-CS:HEAD AND NECK_HEAD > MACROCEPHALY	OMIM:300863	HPO:skoehler	Oct 14, 2012	
-OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0000457	Flat nose			IEA	IEA						OMIM-CS:HEAD AND NECK_NOSE > FLAT NOSE	OMIM:300863	HPO:skoehler	Oct 14, 2012	
-OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0003196	Short nose			IEA	IEA						OMIM-CS:HEAD AND NECK_NOSE > SHORT NOSE	OMIM:300863	HPO:skoehler	Oct 14, 2012	
-OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0001423	X-linked dominant inheritance			IEA	IEA						OMIM-CS:INHERITANCE > X-LINKED DOMINANT	OMIM:300863	HPO:skoehler	Oct 14, 2012	
+OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0000878	11 pairs of ribs			TAS	TAS	rare	male	male				OMIM:300863	HPO:skoehler	Oct 14, 2012	
+OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0000883	Thin ribs			TAS	TAS							OMIM:300863	HPO:skoehler	Oct 14, 2012	
+OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0004322	Short stature			TAS	TAS							OMIM:300863	HPO:skoehler	Oct 14, 2012	
+OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0001511	Intrauterine growth retardation			TAS	TAS							OMIM:300863	HPO:skoehler	Oct 14, 2012	
+OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0000369	Low-set ears			TAS	TAS						OMIM-CS:HEAD AND NECK_EARS > LOW-SET EARS	OMIM:300863	HPO:skoehler	Oct 14, 2012	
+OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0000568	Microphthalmos			TAS	TAS						OMIM-CS:HEAD AND NECK_EYES > MICROPHTHALMIA	OMIM:300863	HPO:skoehler	Oct 14, 2012	
+OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0002007	Frontal bossing			TAS	TAS							OMIM:300863	HPO:skoehler	Oct 14, 2012	
+OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0000238	Hydrocephalus			TAS	TAS							OMIM:300863	HPO:skoehler	Oct 14, 2012	
+OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0000256	Macrocephaly			TAS	TAS						OMIM-CS:HEAD AND NECK_HEAD > MACROCEPHALY	OMIM:300863	HPO:skoehler	Oct 14, 2012	
+OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0000457	Flat nose			TAS	TAS							OMIM:300863	HPO:skoehler	Oct 14, 2012	
+OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0003196	Short nose			TAS	TAS							OMIM:300863	HPO:skoehler	Oct 14, 2012	
+OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0001423	X-linked dominant inheritance			TAS	TAS							OMIM:300863	HPO:skoehler	Oct 14, 2012	
 OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0006402	Distal shortening of limbs			IEA	IEA						OMIM-CS:MISCELLANEOUS > SHORTENING OF LIMBS, MILD BODY ASYMMETRY, AND MILD MENTAL RETARDATION)	OMIM:300863	HPO:skoehler	Oct 14, 2012	
-OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0001249	Intellectual disability			IEA	IEA	rare	female	female			OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, MILD (IN SOME FEMALES)	OMIM:300863	HPO:skoehler	Oct 14, 2012	
-OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0008364	Abnormality of the calcaneus			IEA	IEA						OMIM-CS:SKELETAL_FEET > HYPOPLASTIC CALCANEOUS	OMIM:300863	HPO:skoehler	Oct 14, 2012	
-OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0003021	Metaphyseal cupping			IEA	IEA						OMIM-CS:SKELETAL_FEET > METAPHYSEAL CUPPING OF METATARSALS	OMIM:300863	HPO:skoehler	Oct 14, 2012	
-OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0006208	Metaphyseal cupping of proximal phalanges			IEA	IEA						OMIM-CS:SKELETAL_FEET > METAPHYSEAL CUPPING OF PHALANGES	OMIM:300863	HPO:skoehler	Oct 14, 2012	
-OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0006028	Metaphyseal cupping of metacarpals			IEA	IEA						OMIM-CS:SKELETAL_HANDS > METAPHYSEAL CUPPING OF METACARPALS	OMIM:300863	HPO:skoehler	Oct 14, 2012	
+OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0001249	Intellectual disability			TAS	TAS	rare	female	female				OMIM:300863	HPO:skoehler	Oct 14, 2012	
+OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0003021	Metaphyseal cupping			TAS	TAS						OMIM-CS:SKELETAL_FEET > METAPHYSEAL CUPPING OF METATARSALS	OMIM:300863	HPO:skoehler	Oct 14, 2012	
+OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0006208	Metaphyseal cupping of proximal phalanges			TAS	TAS						OMIM-CS:SKELETAL_FEET > METAPHYSEAL CUPPING OF PHALANGES	OMIM:300863	HPO:skoehler	Oct 14, 2012	
+OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0006028	Metaphyseal cupping of metacarpals			TAS	TAS						OMIM-CS:SKELETAL_HANDS > METAPHYSEAL CUPPING OF METACARPALS	OMIM:300863	HPO:skoehler	Oct 14, 2012	
 OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0008905	Rhizomelia			IEA	IEA		female	female			OMIM-CS:SKELETAL_LIMBS > RHIZOMELIC SHORTENING (IN CARRIER FEMALES)	OMIM:300863	HPO:skoehler	Oct 14, 2012	
 OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0002866	Hypoplastic iliac wings			IEA	IEA		female	female			OMIM-CS:SKELETAL_PELVIS > HYPOPLASIA OF ILIAC WINGS (MILD IN CARRIER FEMALES)	OMIM:300863	HPO:skoehler	Oct 14, 2012	
-OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0000256	Macrocephaly			IEA	IEA						OMIM-CS:SKELETAL_SKULL > MACROCEPHALY	OMIM:300863	HPO:skoehler	Oct 14, 2012	
+OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0000256	Macrocephaly			TAS	TAS						OMIM-CS:SKELETAL_SKULL > MACROCEPHALY	OMIM:300863	HPO:skoehler	Oct 14, 2012	
 OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0004331	Decreased skull ossification			TAS	TAS							OMIM:300863	HPO:skoehler	Oct 14, 2012	
-OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0000926	Platyspondyly			IEA	IEA						OMIM-CS:SKELETAL_SPINE > PLATYSPONDYLY, SEVERE	OMIM:300863	HPO:skoehler	Oct 14, 2012	
+OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0000926	Platyspondyly			TAS	TAS						Severe	OMIM:300863	HPO:skoehler	Oct 14, 2012	
+OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0012789	Hypoplasia of the calcaneus			TAS	TAS							OMIM:300863	HPO:probinson	Apr 24, 2014	

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603546.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603546.tab	2014-04-22 20:47:06 UTC (rev 5136)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603546.tab	2014-04-24 09:15:09 UTC (rev 5137)
@@ -1,6 +1,6 @@
 Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created	
 OMIM:603546	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS					HP:0003015	Flared metaphyses			TAS	TAS							OMIM:603546	HPO:probinson	May 26, 2012	
-OMIM:603546	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS					HP:0003025	Irregular metaphyses			TAS	TAS							OMIM:603546	HPO:probinson	May 26, 2012	
+OMIM:603546	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS					HP:0003025	Metaphyseal irregularity			TAS	TAS							OMIM:603546	HPO:probinson	May 26, 2012	
 OMIM:603546	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS					HP:0003370	Flat capital femoral epiphysis			TAS	TAS							OMIM:603546	HPO:probinson	May 26, 2012	
 OMIM:603546	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS					HP:0003090	Hypoplasia of the capital femoral epiphysis			TAS	TAS							OMIM:603546	HPO:probinson	May 26, 2012	
 OMIM:603546	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS					HP:0003071	Flattened epiphyses			TAS	TAS							OMIM:603546	HPO:probinson	Jun 18, 2012	
@@ -16,7 +16,7 @@
 OMIM:603546	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:603546	HPO:probinson	Apr 12, 2013	
 OMIM:603546	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS					HP:0009836	Broad distal phalanx of finger			TAS	TAS							OMIM:603546	HPO:probinson	Apr 12, 2013	
 OMIM:603546	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS					HP:0001498	Carpal bone hypoplasia			IEA	IEA							OMIM:603546	HPO:probinson	Apr 12, 2013	
-OMIM:603546	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS					HP:0008457	Caudal narrowing of interpedicular distances			IEA	IEA							OMIM:603546	HPO:probinson	Apr 12, 2013	
+OMIM:603546	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS					HP:0008457	Caudal interpedicular narrowing			IEA	IEA							OMIM:603546	HPO:probinson	Apr 12, 2013	
 OMIM:603546	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS					HP:0001374	Congenital hip dislocation			IEA	IEA							OMIM:603546	HPO:probinson	Apr 12, 2013	
 OMIM:603546	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS					HP:0006016	Delayed phalangeal epiphyseal ossification			TAS	TAS						Severe	OMIM:603546	HPO:probinson	Apr 12, 2013	
 OMIM:603546	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS					HP:0003083	Dislocated radial head			IEA	IEA							OMIM:603546	HPO:probinson	Apr 12, 2013	
@@ -25,11 +25,11 @@
 OMIM:603546	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS					HP:0001252	Muscular hypotonia			IEA	IEA							OMIM:603546	HPO:probinson	Apr 12, 2013	
 OMIM:603546	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS					HP:0005121	Posterior scalloping of vertebral bodies			IEA	IEA							OMIM:603546	HPO:probinson	Apr 12, 2013	
 OMIM:603546	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS					HP:0002650	Scoliosis			IEA	IEA							OMIM:603546	HPO:probinson	Apr 12, 2013	
-OMIM:603546	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS					HP:0006454	Severely delayed patellae ossification			IEA	IEA							OMIM:603546	HPO:probinson	Apr 12, 2013	
+OMIM:603546	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS					HP:0006454	Severely delayed patellae ossification			TAS	TAS						Severe	OMIM:603546	HPO:probinson	Apr 12, 2013	
 OMIM:603546	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS					HP:0004322	Short stature			IEA	IEA							OMIM:603546	HPO:probinson	Apr 12, 2013	
 OMIM:603546	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS					HP:0000977	Soft skin			TAS	TAS							OMIM:603546	HPO:skoehler	Apr 12, 2013	
 OMIM:603546	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS					HP:0002651	Spondyloepimetaphyseal dysplasia			IEA	IEA							OMIM:603546	HPO:probinson	Apr 12, 2013	
 OMIM:603546	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS					HP:0005092	Streaky metaphyseal sclerosis			IEA	IEA							OMIM:603546	HPO:probinson	Apr 12, 2013	
 OMIM:603546	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS					HP:0010301	Spinal dysraphism			IEA	IEA							OMIM:603546	HPO:skoehler	Apr 12, 2013	
-OMIM:603546	#603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 2; SEMDJL2;;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, HALL TYPE;;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, LEPTODACTYLICTYPE;;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS, HALLTYPE					HP:0008819	Narrow femoral neck			IEA	IEA						OMIM-CS:SKELETAL_PELVIS > NARROW FEMORAL NECKS	OMIM:603546	HPO:skoehler	31.05.2013
-OMIM:603546	#603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 2; SEMDJL2;;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, HALL TYPE;;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, LEPTODACTYLICTYPE;;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS, HALLTYPE					HP:0011800	Midface retrusion			IEA	IEA						OMIM-CS:HEAD AND NECK_FACE > MIDFACE HYPOPLASIA	OMIM:603546	HPO:skoehler	28.11.2013
+OMIM:603546	#603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 2; SEMDJL2;;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, HALL TYPE;;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, LEPTODACTYLICTYPE;;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS, HALLTYPE					HP:0008819	Narrow femoral neck			TAS	TAS							OMIM:603546	HPO:skoehler	May 31, 2013	
+OMIM:603546	#603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 2; SEMDJL2;;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, HALL TYPE;;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, LEPTODACTYLICTYPE;;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS, HALLTYPE					HP:0011800	Midface retrusion			TAS	TAS						OMIM-CS:HEAD AND NECK_FACE > MIDFACE HYPOPLASIA	OMIM:603546	HPO:skoehler	Nov 28, 2013	

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[Obo-svn-commit] SF.net SVN: obo:[5136] phenotype-commons/annotations/OMIM/by-disease/ annotated

[<pr...@us...>]

Revision: 5136
          http://sourceforge.net/p/obo/svn/5136
Author:   probins
Date:     2014-04-22 20:47:06 +0000 (Tue, 22 Apr 2014)
Log Message:
-----------
Corrected a few annotations

Modified Paths:
--------------
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-126250.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-144755.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-277470.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300863.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607596.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608027.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610204.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614969.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615181.tab

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-126250.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-126250.tab	2014-04-22 15:55:09 UTC (rev 5135)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-126250.tab	2014-04-22 20:47:06 UTC (rev 5136)
@@ -1,3 +1,4 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:126250	DISTAL OSTEOSCLEROSIS					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:126250	HPO	17.02.2009
-OMIM:126250	DISTAL OSTEOSCLEROSIS					HP:0005611	Craniodiaphyseal osteosclerosis			IEA	IEA							OMIM:126250	HPO	17.02.2009
+Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created	
+OMIM:126250	DISTAL OSTEOSCLEROSIS					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:126250	HPO	Feb 17, 2009	
+OMIM:126250	DISTAL OSTEOSCLEROSIS					HP:0005464	Craniofacial osteosclerosis			TAS	TAS							OMIM:126250	HPO	Apr 22, 2014	
+OMIM:126250	DISTAL OSTEOSCLEROSIS					HP:0003034	Diaphyseal sclerosis			TAS	TAS							OMIM:126250	HPO	Apr 22, 2014	

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-144755.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-144755.tab	2014-04-22 15:55:09 UTC (rev 5135)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-144755.tab	2014-04-22 20:47:06 UTC (rev 5136)
@@ -1,5 +1,6 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:144755	HYPEROSTOSIS CRANIALIS INTERNA					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:144755	HPO	17.02.2009
-OMIM:144755	HYPEROSTOSIS CRANIALIS INTERNA					HP:0005746	Osteosclerosis of calvaria and base of the skull			IEA	IEA							OMIM:144755	HPO	17.02.2009
-OMIM:144755	HYPEROSTOSIS CRANIALIS INTERNA					HP:0005890	Hyperostosis cranialis interna			IEA	IEA							OMIM:144755	HPO	17.02.2009
-OMIM:144755	HYPEROSTOSIS CRANIALIS INTERNA					HP:0010628	Facial palsy			IEA	IEA							OMIM:144755	HPO:skoehler	20.06.2010
+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	
+OMIM:144755	HYPEROSTOSIS CRANIALIS INTERNA					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:144755	HPO	Feb 17, 2009	
+OMIM:144755	HYPEROSTOSIS CRANIALIS INTERNA					HP:0005746	Osteosclerosis of calvaria and base of the skull			TAS	TAS							OMIM:144755	HPO:probinson	Feb 17, 2009	
+OMIM:144755	HYPEROSTOSIS CRANIALIS INTERNA					HP:0005890	Hyperostosis cranialis interna			IEA	IEA							OMIM:144755	HPO	Feb 17, 2009	
+OMIM:144755	HYPEROSTOSIS CRANIALIS INTERNA					HP:0010628	Facial palsy			IEA	IEA							OMIM:144755	HPO:skoehler	Jun 20, 2010	
+OMIM:144755	HYPEROSTOSIS CRANIALIS INTERNA					HP:0004490	Calvarial hyperostosis			TAS	TAS							OMIM:144755	HPO:probinson	Apr 22, 2014	

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-277470.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-277470.tab	2014-04-22 15:55:09 UTC (rev 5135)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-277470.tab	2014-04-22 20:47:06 UTC (rev 5136)
@@ -6,7 +6,6 @@
 OMIM:277470	PONTOCEREBELLAR HYPOPLASIA, TYPE 2					HP:0001321	Cerebellar hypoplasia			IEA	IEA							OMIM:277470	HPO:skoehler	Jun 18, 2010	
 OMIM:277470	PONTOCEREBELLAR HYPOPLASIA, TYPE 2					HP:0002179	Opisthotonus			IEA	IEA							OMIM:277470	HPO	Feb 17, 2009	
 OMIM:277470	PONTOCEREBELLAR HYPOPLASIA, TYPE 2					HP:0003577	Congenital onset			IEA	IEA							OMIM:277470	HPO	Feb 17, 2009	
-OMIM:277470	PONTOCEREBELLAR HYPOPLASIA, TYPE 2					HP:0007053	Pontocerebellar hypoplasia			TAS	TAS							OMIM:277470	HPO:probinson	Feb 17, 2009	
 OMIM:277470	PONTOCEREBELLAR HYPOPLASIA, TYPE 2					HP:0007308	Extrapyramidal dyskinesia			IEA	IEA							OMIM:277470	HPO	Feb 17, 2009	
 OMIM:277470	PONTOCEREBELLAR HYPOPLASIA, TYPE 2					HP:0007772	Impaired smooth pursuit			IEA	IEA							OMIM:277470	HPO	Feb 17, 2009	
 OMIM:277470	PONTOCEREBELLAR HYPOPLASIA, TYPE 2					HP:0008872	Feeding difficulties in infancy			IEA	IEA							OMIM:277470	HPO	Feb 17, 2009	
@@ -15,5 +14,7 @@
 OMIM:277470	#277470 PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A;;PCH2;;PONTOCEREBELLAR HYPOPLASIA WITH PROGRESSIVE CEREBRAL ATROPHY;;VOLENDAM NEURODEGENERATIVE DISEASE					HP:0002171	Gliosis			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DIFFUSE CEREBRAL GLIOSIS	OMIM:277470	HPO:skoehler	Nov 26, 2012	
 OMIM:277470	#277470 PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A;;PCH2;;PONTOCEREBELLAR HYPOPLASIA WITH PROGRESSIVE CEREBRAL ATROPHY;;VOLENDAM NEURODEGENERATIVE DISEASE					HP:0002500	Abnormality of the cerebral white matter			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PERIVENTRICULAR WHITE MATTER ABNORMALITIES	OMIM:277470	HPO:skoehler	Nov 26, 2012	
 OMIM:277470	#277470 PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A;;PCH2;;PONTOCEREBELLAR HYPOPLASIA WITH PROGRESSIVE CEREBRAL ATROPHY;;VOLENDAM NEURODEGENERATIVE DISEASE					HP:0000711	Restlessness	HP:0003577	Congenital onset	IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > RESTLESSNESS AT BIRTH	OMIM:277470	HPO:skoehler	Nov 26, 2012	
-OMIM:277470	#277470 PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A;;PCH2;;PONTOCEREBELLAR HYPOPLASIA WITH PROGRESSIVE CEREBRAL ATROPHY;;VOLENDAM NEURODEGENERATIVE DISEASE					HP:0000253	Progressive microcephaly			IEA	IEA						OMIM-CS:HEAD AND NECK_HEAD > MICROCEPHALY, PROGRESSIVE	OMIM:277470	HPO:skoehler	22.01.2013
-OMIM:277470	#277470 PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A;;PCH2;;PONTOCEREBELLAR HYPOPLASIA WITH PROGRESSIVE CEREBRAL ATROPHY;;VOLENDAM NEURODEGENERATIVE DISEASE					HP:0002518	Abnormality of the periventricular white matter			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PERIVENTRICULAR WHITE MATTER ABNORMALITIES	OMIM:277470	HPO:skoehler	05.06.2013
+OMIM:277470	#277470 PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A;;PCH2;;PONTOCEREBELLAR HYPOPLASIA WITH PROGRESSIVE CEREBRAL ATROPHY;;VOLENDAM NEURODEGENERATIVE DISEASE					HP:0000253	Progressive microcephaly			IEA	IEA						OMIM-CS:HEAD AND NECK_HEAD > MICROCEPHALY, PROGRESSIVE	OMIM:277470	HPO:skoehler	Jan 22, 2013	
+OMIM:277470	#277470 PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A;;PCH2;;PONTOCEREBELLAR HYPOPLASIA WITH PROGRESSIVE CEREBRAL ATROPHY;;VOLENDAM NEURODEGENERATIVE DISEASE					HP:0002518	Abnormality of the periventricular white matter			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PERIVENTRICULAR WHITE MATTER ABNORMALITIES	OMIM:277470	HPO:skoehler	Jun 5, 2013	
+OMIM:277470	PONTOCEREBELLAR HYPOPLASIA, TYPE 2					HP:0012110	Hypoplasia of the pons			TAS	TAS							OMIM:277470	HPO:probinson	Apr 22, 2014	
+OMIM:277470	PONTOCEREBELLAR HYPOPLASIA, TYPE 2					HP:0001321	Cerebellar hypoplasia			TAS	TAS							OMIM:277470	HPO:probinson	Apr 22, 2014	

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300863.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300863.tab	2014-04-22 15:55:09 UTC (rev 5135)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300863.tab	2014-04-22 20:47:06 UTC (rev 5136)
@@ -17,10 +17,8 @@
 OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0003021	Metaphyseal cupping			IEA	IEA						OMIM-CS:SKELETAL_FEET > METAPHYSEAL CUPPING OF METATARSALS	OMIM:300863	HPO:skoehler	Oct 14, 2012	
 OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0006208	Metaphyseal cupping of proximal phalanges			IEA	IEA						OMIM-CS:SKELETAL_FEET > METAPHYSEAL CUPPING OF PHALANGES	OMIM:300863	HPO:skoehler	Oct 14, 2012	
 OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0006028	Metaphyseal cupping of metacarpals			IEA	IEA						OMIM-CS:SKELETAL_HANDS > METAPHYSEAL CUPPING OF METACARPALS	OMIM:300863	HPO:skoehler	Oct 14, 2012	
-OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0003021	Metaphyseal cupping			IEA	IEA						OMIM-CS:SKELETAL_HANDS > METAPHYSEAL CUPPING OF PHALANGES	OMIM:300863	HPO:skoehler	Oct 14, 2012	
-OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0008905	Rhizomelic short stature			IEA	IEA		female	female			OMIM-CS:SKELETAL_LIMBS > RHIZOMELIC SHORTENING (IN CARRIER FEMALES)	OMIM:300863	HPO:skoehler	Oct 14, 2012	
+OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0008905	Rhizomelia			IEA	IEA		female	female			OMIM-CS:SKELETAL_LIMBS > RHIZOMELIC SHORTENING (IN CARRIER FEMALES)	OMIM:300863	HPO:skoehler	Oct 14, 2012	
 OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0002866	Hypoplastic iliac wings			IEA	IEA		female	female			OMIM-CS:SKELETAL_PELVIS > HYPOPLASIA OF ILIAC WINGS (MILD IN CARRIER FEMALES)	OMIM:300863	HPO:skoehler	Oct 14, 2012	
-OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0005746	Osteosclerosis of calvaria and base of the skull			IEA	IEA						OMIM-CS:SKELETAL_PELVIS > POOR OSSIFICATION OF PUBIS	OMIM:300863	HPO:skoehler	Oct 14, 2012	
 OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0000256	Macrocephaly			IEA	IEA						OMIM-CS:SKELETAL_SKULL > MACROCEPHALY	OMIM:300863	HPO:skoehler	Oct 14, 2012	
-OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0002703	Abnormality of skull ossification			IEA	IEA						OMIM-CS:SKELETAL_SKULL > POOR MINERALIZATION OF SKULL	OMIM:300863	HPO:skoehler	Oct 14, 2012	
+OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0004331	Decreased skull ossification			TAS	TAS							OMIM:300863	HPO:skoehler	Oct 14, 2012	
 OMIM:300863	%300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,AND MICROPHTHALMIA					HP:0000926	Platyspondyly			IEA	IEA						OMIM-CS:SKELETAL_SPINE > PLATYSPONDYLY, SEVERE	OMIM:300863	HPO:skoehler	Oct 14, 2012	

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607596.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607596.tab	2014-04-22 15:55:09 UTC (rev 5135)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607596.tab	2014-04-22 20:47:06 UTC (rev 5136)
@@ -9,14 +9,15 @@
 OMIM:607596	PONTOCEREBELLAR HYPOPLASIA, TYPE 1					HP:0002093	Respiratory insufficiency			IEA	IEA							OMIM:607596	HPO	Feb 17, 2009	
 OMIM:607596	PONTOCEREBELLAR HYPOPLASIA, TYPE 1					HP:0002380	Fasciculations			IEA	IEA							OMIM:607596	HPO:skoehler	Jun 18, 2010	
 OMIM:607596	PONTOCEREBELLAR HYPOPLASIA, TYPE 1					HP:0002398	Degeneration of anterior horn cells			IEA	IEA							OMIM:607596	HPO	Feb 17, 2009	
-OMIM:607596	PONTOCEREBELLAR HYPOPLASIA, TYPE 1					HP:0002803	Congenital contractures			IEA	IEA							OMIM:607596	HPO	Feb 17, 2009	
+OMIM:607596	PONTOCEREBELLAR HYPOPLASIA, TYPE 1					HP:0002803	Congenital contracture			IEA	IEA							OMIM:607596	HPO	Feb 17, 2009	
 OMIM:607596	PONTOCEREBELLAR HYPOPLASIA, TYPE 1					HP:0003445	EMG: neuropathic changes			IEA	IEA							OMIM:607596	HPO	Feb 17, 2009	
 OMIM:607596	PONTOCEREBELLAR HYPOPLASIA, TYPE 1					HP:0003577	Congenital onset			TAS	TAS							OMIM:607596	HPO:skoehler	Feb 17, 2009	
 OMIM:607596	PONTOCEREBELLAR HYPOPLASIA, TYPE 1					HP:0003676	Progressive disorder			IEA	IEA							OMIM:607596	HPO:skoehler	Jun 19, 2010	
 OMIM:607596	PONTOCEREBELLAR HYPOPLASIA, TYPE 1					HP:0006850	Hypoplasia of the ventral pons			IEA	IEA							OMIM:607596	HPO	Feb 17, 2009	
-OMIM:607596	PONTOCEREBELLAR HYPOPLASIA, TYPE 1					HP:0007053	Pontocerebellar hypoplasia			IEA	IEA							OMIM:607596	HPO	Feb 17, 2009	
 OMIM:607596	PONTOCEREBELLAR HYPOPLASIA, TYPE 1					HP:0007269	Spinal muscular atrophy			IEA	IEA							OMIM:607596	HPO:skoehler	Jun 20, 2010	
 OMIM:607596	PONTOCEREBELLAR HYPOPLASIA, TYPE 1					HP:0008872	Feeding difficulties in infancy			IEA	IEA							OMIM:607596	HPO:skoehler	Jun 18, 2010	
 OMIM:607596	#607596 PONTOCEREBELLAR HYPOPLASIA, TYPE 1A; PCH1A;;PCH1;;PONTOCEREBELLAR HYPOPLASIA WITH INFANTILE SPINAL MUSCULAR ATROPHY;;PONTOCEREBELLAR HYPOPLASIA WITH ANTERIOR HORN CELL DISEASE					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PSYCHOMOTOR RETARDATION	OMIM:607596	HPO:skoehler	Oct 17, 2012	
 OMIM:607596	#607596 PONTOCEREBELLAR HYPOPLASIA, TYPE 1A; PCH1A;;PCH1;;PONTOCEREBELLAR HYPOPLASIA WITH INFANTILE SPINAL MUSCULAR ATROPHY;;PONTOCEREBELLAR HYPOPLASIA WITH ANTERIOR HORN CELL DISEASE					HP:0200147	Neuronal loss in basal ganglia			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > NEURONAL LOSS IN BASAL GANGLIA	OMIM:607596	HPO:skoehler	Jun 13, 2013	
 OMIM:607596	PONTOCEREBELLAR HYPOPLASIA, TYPE 1					HP:0006999	Basal ganglia gliosis			TAS	TAS							OMIM:607596	HPO:probinson	Dec 20, 2013	
+OMIM:607596	PONTOCEREBELLAR HYPOPLASIA, TYPE 1					HP:0001321	Cerebellar hypoplasia			TAS	TAS							OMIM:607596	HPO:probinson	Apr 22, 2014	
+OMIM:607596	PONTOCEREBELLAR HYPOPLASIA, TYPE 1					HP:0012110	Hypoplasia of the pons			TAS	TAS							OMIM:607596	HPO:probinson	Apr 22, 2014	

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608027.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608027.tab	2014-04-22 15:55:09 UTC (rev 5135)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608027.tab	2014-04-22 20:47:06 UTC (rev 5136)
@@ -16,7 +16,6 @@
 OMIM:608027	CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY					HP:0003676	Progressive disorder			IEA	IEA							OMIM:608027	HPO	Feb 17, 2009	
 OMIM:608027	CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY					HP:0004322	Short stature			IEA	IEA							OMIM:608027	HPO	Feb 17, 2009	
 OMIM:608027	CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY					HP:0004325	Decreased body weight			IEA	IEA							OMIM:608027	HPO	Feb 17, 2009	
-OMIM:608027	CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY					HP:0007053	Pontocerebellar hypoplasia			TAS	TAS							OMIM:608027	HPO:skoehler	Feb 17, 2009	
 OMIM:608027	CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY					HP:0008936	Muscular hypotonia of the trunk			IEA	IEA							OMIM:608027	HPO	Feb 17, 2009	
 OMIM:608027	%608027 PONTOCEREBELLAR HYPOPLASIA, TYPE 3; PCH3;;CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY; CLAM;;PCH WITH OPTIC ATROPHY					HP:0000365	Hearing impairment			TAS	TAS							OMIM:608027	HPO:skoehler	Oct 17, 2012	
 OMIM:608027	%608027 PONTOCEREBELLAR HYPOPLASIA, TYPE 3; PCH3;;CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY; CLAM;;PCH WITH OPTIC ATROPHY					HP:0000400	Macrotia			TAS	TAS							OMIM:608027	HPO:skoehler	Oct 17, 2012	
@@ -27,4 +26,6 @@
 OMIM:608027	%608027 PONTOCEREBELLAR HYPOPLASIA, TYPE 3; PCH3;;CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY; CLAM;;PCH WITH OPTIC ATROPHY					HP:0000156	High-arched palate			TAS	TAS							OMIM:608027	HPO:skoehler	Oct 17, 2012	
 OMIM:608027	%608027 PONTOCEREBELLAR HYPOPLASIA, TYPE 3; PCH3;;CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY; CLAM;;PCH WITH OPTIC ATROPHY					HP:0005280	Depressed nasal bridge			TAS	TAS							OMIM:608027	HPO:skoehler	Oct 17, 2012	
 OMIM:608027	%608027 PONTOCEREBELLAR HYPOPLASIA, TYPE 3; PCH3;;CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY; CLAM;;PCH WITH OPTIC ATROPHY					HP:0002079	Hypoplasia of the corpus callosum			TAS	TAS							OMIM:608027	HPO:skoehler	Oct 17, 2012	
-OMIM:608027	%608027 PONTOCEREBELLAR HYPOPLASIA, TYPE 3; PCH3;;CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY; CLAM;;PCH WITH OPTIC ATROPHY					HP:0002365	Hypoplasia of the brainstem			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SMALL BRAINSTEM	OMIM:608027	HPO:skoehler	04.04.2014
+OMIM:608027	%608027 PONTOCEREBELLAR HYPOPLASIA, TYPE 3; PCH3;;CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY; CLAM;;PCH WITH OPTIC ATROPHY					HP:0002365	Hypoplasia of the brainstem			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SMALL BRAINSTEM	OMIM:608027	HPO:skoehler	Apr 4, 2014	
+OMIM:608027	CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY					HP:0001321	Cerebellar hypoplasia			TAS	TAS							OMIM:608027	HPO:skoehler	Apr 22, 2014	
+OMIM:608027	CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY					HP:0012110	Hypoplasia of the pons			TAS	TAS							OMIM:608027	HPO:skoehler	Apr 22, 2014	

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610204.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610204.tab	2014-04-22 15:55:09 UTC (rev 5135)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610204.tab	2014-04-22 20:47:06 UTC (rev 5136)
@@ -3,4 +3,3 @@
 OMIM:610204	OLIVOPONTOCEREBELLAR HYPOPLASIA, FETAL-ONSET					HP:0000252	Microcephaly			TAS	TAS							OMIM:610204	HPO:skoehler	Feb 17, 2009	
 OMIM:610204	OLIVOPONTOCEREBELLAR HYPOPLASIA, FETAL-ONSET					HP:0001250	Seizures			TAS	TAS							OMIM:610204	HPO:skoehler	Feb 17, 2009	
 OMIM:610204	OLIVOPONTOCEREBELLAR HYPOPLASIA, FETAL-ONSET					HP:0006955	Olivopontocerebellar hypoplasia			TAS	TAS						severe	OMIM:610204	HPO:skoehler	Feb 17, 2009	
-OMIM:610204	OLIVOPONTOCEREBELLAR HYPOPLASIA, FETAL-ONSET					HP:0007053	Pontocerebellar hypoplasia			TAS	TAS							OMIM:610204	HPO:skoehler	Feb 17, 2009	

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614969.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614969.tab	2014-04-22 15:55:09 UTC (rev 5135)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614969.tab	2014-04-22 20:47:06 UTC (rev 5136)
@@ -1,9 +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
-OMIM:614969	%614969 PONTOCEREBELLAR HYPOPLASIA, TYPE 7; PCH7					HP:0000062	Ambiguous genitalia			IEA	IEA						OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > AMBIGUOUS GENITALIA	OMIM:614969	HPO:skoehler	30.12.2012
-OMIM:614969	%614969 PONTOCEREBELLAR HYPOPLASIA, TYPE 7; PCH7					HP:0000054	Micropenis			IEA	IEA						OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > MICROPENIS	OMIM:614969	HPO:skoehler	30.12.2012
-OMIM:614969	%614969 PONTOCEREBELLAR HYPOPLASIA, TYPE 7; PCH7					HP:0002059	Cerebral atrophy			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBRAL ATROPHY	OMIM:614969	HPO:skoehler	30.12.2012
-OMIM:614969	%614969 PONTOCEREBELLAR HYPOPLASIA, TYPE 7; PCH7					HP:0007053	Pontocerebellar hypoplasia			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PONTOCEREBELLAR HYPOPLASIA	OMIM:614969	HPO:skoehler	30.12.2012
-OMIM:614969	%614969 PONTOCEREBELLAR HYPOPLASIA, TYPE 7; PCH7					HP:0001250	Seizures			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES	OMIM:614969	HPO:skoehler	30.12.2012
-OMIM:614969	%614969 PONTOCEREBELLAR HYPOPLASIA, TYPE 7; PCH7					HP:0002104	Apnea			IEA	IEA						OMIM-CS:RESPIRATORY > APNEIC EPISODES	OMIM:614969	HPO:skoehler	30.12.2012
-OMIM:614969	%614969 PONTOCEREBELLAR HYPOPLASIA, TYPE 7; PCH7					HP:0000253	Progressive microcephaly			IEA	IEA						OMIM-CS:HEAD AND NECK_HEAD > MICROCEPHALY, PROGRESSIVE	OMIM:614969	HPO:skoehler	22.01.2013
-OMIM:614969	%614969 PONTOCEREBELLAR HYPOPLASIA, TYPE 7; PCH7					HP:0001263	Global developmental delay			IEA	IEA						MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE	OMIM:614969	HPO:skoehler	06.06.2013
+Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created	
+OMIM:614969	%614969 PONTOCEREBELLAR HYPOPLASIA, TYPE 7; PCH7					HP:0000062	Ambiguous genitalia			IEA	IEA						OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > AMBIGUOUS GENITALIA	OMIM:614969	HPO:skoehler	Dec 30, 2012	
+OMIM:614969	%614969 PONTOCEREBELLAR HYPOPLASIA, TYPE 7; PCH7					HP:0000054	Micropenis			IEA	IEA						OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > MICROPENIS	OMIM:614969	HPO:skoehler	Dec 30, 2012	
+OMIM:614969	%614969 PONTOCEREBELLAR HYPOPLASIA, TYPE 7; PCH7					HP:0002059	Cerebral atrophy			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBRAL ATROPHY	OMIM:614969	HPO:skoehler	Dec 30, 2012	
+OMIM:614969	%614969 PONTOCEREBELLAR HYPOPLASIA, TYPE 7; PCH7					HP:0001250	Seizures			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES	OMIM:614969	HPO:skoehler	Dec 30, 2012	
+OMIM:614969	%614969 PONTOCEREBELLAR HYPOPLASIA, TYPE 7; PCH7					HP:0002104	Apnea			IEA	IEA						OMIM-CS:RESPIRATORY > APNEIC EPISODES	OMIM:614969	HPO:skoehler	Dec 30, 2012	
+OMIM:614969	%614969 PONTOCEREBELLAR HYPOPLASIA, TYPE 7; PCH7					HP:0000253	Progressive microcephaly			IEA	IEA						OMIM-CS:HEAD AND NECK_HEAD > MICROCEPHALY, PROGRESSIVE	OMIM:614969	HPO:skoehler	Jan 22, 2013	
+OMIM:614969	%614969 PONTOCEREBELLAR HYPOPLASIA, TYPE 7; PCH7					HP:0001263	Global developmental delay			IEA	IEA						MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE	OMIM:614969	HPO:skoehler	Jun 6, 2013	
+OMIM:614969	%614969 PONTOCEREBELLAR HYPOPLASIA, TYPE 7; PCH7					HP:0001321	Cerebellar hypoplasia			TAS	TAS							OMIM:614969	HPO:skoehler	Apr 22, 2014	
+OMIM:614969	%614969 PONTOCEREBELLAR HYPOPLASIA, TYPE 7; PCH7					HP:0012110	Hypoplasia of the pons			TAS	TAS							OMIM:614969	HPO:skoehler	Apr 22, 2014	

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615181.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615181.tab	2014-04-22 15:55:09 UTC (rev 5135)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615181.tab	2014-04-22 20:47:06 UTC (rev 5136)
@@ -1,18 +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
-OMIM:615181	#615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11; MDDGA11					HP:0000618	Blindness			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > BLINDNESS	OMIM:615181	HPO:skoehler	03.05.2013
-OMIM:615181	#615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11; MDDGA11					HP:0000518	Cataract			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > CATARACTS	OMIM:615181	HPO:skoehler	03.05.2013
-OMIM:615181	#615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11; MDDGA11					HP:0000568	Microphthalmos			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > MICROPHTHALMIA	OMIM:615181	HPO:skoehler	03.05.2013
-OMIM:615181	#615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11; MDDGA11					HP:0000545	Myopia			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > MYOPIA	OMIM:615181	HPO:skoehler	03.05.2013
-OMIM:615181	#615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11; MDDGA11					HP:0000609	Optic nerve hypoplasia			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > OPTIC NERVE HYPOPLASIA	OMIM:615181	HPO:skoehler	03.05.2013
-OMIM:615181	#615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11; MDDGA11					HP:0000541	Retinal detachment			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > RETINAL DETACHMENT	OMIM:615181	HPO:skoehler	03.05.2013
-OMIM:615181	#615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11; MDDGA11					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE	OMIM:615181	HPO:skoehler	03.05.2013
-OMIM:615181	#615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11; MDDGA11					HP:0003236	Elevated serum creatine phosphokinase			IEA	IEA						OMIM-CS:LABORATORY ABNORMALITIES > INCREASED SERUM CREATINE KINASE	OMIM:615181	HPO:skoehler	03.05.2013
-OMIM:615181	#615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11; MDDGA11					HP:0006829	Severe muscular hypotonia			IEA	IEA						OMIM-CS:MUSCLE, SOFT TISSUE > HYPOTONIA, SEVERE	OMIM:615181	HPO:skoehler	03.05.2013
-OMIM:615181	#615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11; MDDGA11					HP:0003560	Muscular dystrophy			IEA	IEA						OMIM-CS:MUSCLE, SOFT TISSUE > MUSCULAR DYSTROPHY	OMIM:615181	HPO:skoehler	03.05.2013
-OMIM:615181	#615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11; MDDGA11					HP:0002350	Cerebellar cyst			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR CYSTS	OMIM:615181	HPO:skoehler	03.05.2013
-OMIM:615181	#615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11; MDDGA11					HP:0007033	Cerebellar dysplasia			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR DYSPLASIA	OMIM:615181	HPO:skoehler	03.05.2013
-OMIM:615181	#615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11; MDDGA11					HP:0007260	Type II lissencephaly			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > COBBLESTONE LISSENCEPHALY	OMIM:615181	HPO:skoehler	03.05.2013
-OMIM:615181	#615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11; MDDGA11					HP:0000238	Hydrocephalus			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYDROCEPHALUS	OMIM:615181	HPO:skoehler	03.05.2013
-OMIM:615181	#615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11; MDDGA11					HP:0002126	Polymicrogyria			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > POLYMICROGYRIA	OMIM:615181	HPO:skoehler	03.05.2013
-OMIM:615181	#615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11; MDDGA11					HP:0007053	Pontocerebellar hypoplasia			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PONTOCEREBELLAR HYPOPLASIA	OMIM:615181	HPO:skoehler	03.05.2013
-OMIM:615181	#615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11; MDDGA11					HP:0001263	Global developmental delay			IEA	IEA						MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE	OMIM:615181	HPO:skoehler	06.06.2013
+Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created	
+OMIM:615181	#615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11; MDDGA11					HP:0000618	Blindness			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > BLINDNESS	OMIM:615181	HPO:skoehler	May 3, 2013	
+OMIM:615181	#615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11; MDDGA11					HP:0000518	Cataract			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > CATARACTS	OMIM:615181	HPO:skoehler	May 3, 2013	
+OMIM:615181	#615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11; MDDGA11					HP:0000568	Microphthalmos			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > MICROPHTHALMIA	OMIM:615181	HPO:skoehler	May 3, 2013	
+OMIM:615181	#615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11; MDDGA11					HP:0000545	Myopia			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > MYOPIA	OMIM:615181	HPO:skoehler	May 3, 2013	
+OMIM:615181	#615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11; MDDGA11					HP:0000609	Optic nerve hypoplasia			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > OPTIC NERVE HYPOPLASIA	OMIM:615181	HPO:skoehler	May 3, 2013	
+OMIM:615181	#615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11; MDDGA11					HP:0000541	Retinal detachment			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > RETINAL DETACHMENT	OMIM:615181	HPO:skoehler	May 3, 2013	
+OMIM:615181	#615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11; MDDGA11					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE	OMIM:615181	HPO:skoehler	May 3, 2013	
+OMIM:615181	#615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11; MDDGA11					HP:0003236	Elevated serum creatine phosphokinase			IEA	IEA						OMIM-CS:LABORATORY ABNORMALITIES > INCREASED SERUM CREATINE KINASE	OMIM:615181	HPO:skoehler	May 3, 2013	
+OMIM:615181	#615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11; MDDGA11					HP:0006829	Severe muscular hypotonia			IEA	IEA						OMIM-CS:MUSCLE, SOFT TISSUE > HYPOTONIA, SEVERE	OMIM:615181	HPO:skoehler	May 3, 2013	
+OMIM:615181	#615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11; MDDGA11					HP:0003560	Muscular dystrophy			IEA	IEA						OMIM-CS:MUSCLE, SOFT TISSUE > MUSCULAR DYSTROPHY	OMIM:615181	HPO:skoehler	May 3, 2013	
+OMIM:615181	#615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11; MDDGA11					HP:0002350	Cerebellar cyst			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR CYSTS	OMIM:615181	HPO:skoehler	May 3, 2013	
+OMIM:615181	#615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11; MDDGA11					HP:0007033	Cerebellar dysplasia			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR DYSPLASIA	OMIM:615181	HPO:skoehler	May 3, 2013	
+OMIM:615181	#615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11; MDDGA11					HP:0007260	Type II lissencephaly			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > COBBLESTONE LISSENCEPHALY	OMIM:615181	HPO:skoehler	May 3, 2013	
+OMIM:615181	#615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11; MDDGA11					HP:0000238	Hydrocephalus			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYDROCEPHALUS	OMIM:615181	HPO:skoehler	May 3, 2013	
+OMIM:615181	#615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11; MDDGA11					HP:0002126	Polymicrogyria			IEA	IEA						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > POLYMICROGYRIA	OMIM:615181	HPO:skoehler	May 3, 2013	
+OMIM:615181	#615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11; MDDGA11					HP:0001263	Global developmental delay			IEA	IEA						MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE	OMIM:615181	HPO:skoehler	Jun 6, 2013	
+OMIM:615181	#615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11; MDDGA11					HP:0001321	Cerebellar hypoplasia			TAS	TAS						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PONTOCEREBELLAR HYPOPLASIA	OMIM:615181	HPO:skoehler	Apr 22, 2014	
+OMIM:615181	#615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11; MDDGA11					HP:0012110	Hypoplasia of the pons			TAS	TAS						OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PONTOCEREBELLAR HYPOPLASIA	OMIM:615181	HPO:skoehler	Apr 22, 2014	

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[Obo-svn-commit] SF.net SVN: obo:[5135] phenotype-commons/annotations/OMIM/by-disease/ annotated

[<pr...@us...>]

Revision: 5135
          http://sourceforge.net/p/obo/svn/5135
Author:   probins
Date:     2014-04-22 15:55:09 +0000 (Tue, 22 Apr 2014)
Log Message:
-----------
Adding new disease entries

Modified Paths:
--------------
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602096.tab
    phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615118.tab

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602096.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602096.tab	2014-04-16 18:32:33 UTC (rev 5134)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602096.tab	2014-04-22 15:55:09 UTC (rev 5135)
@@ -1,4 +1,4 @@
 Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created	
 OMIM:602096	ALZHEIMER DISEASE 5					HP:0000006	Autosomal dominant inheritance			IEA	IEA							OMIM:602096	HPO	Feb 17, 2009	
 OMIM:602096	ALZHEIMER DISEASE 5					HP:0003584	Late onset			TAS	TAS							OMIM:602096	HPO:skoehler	Feb 17, 2009	
-OMIM:602096	ALZHEIMER DISEASE 5					HP:0007213	Late-onset form of familial Alzheimer disease			IEA	IEA							OMIM:602096	HPO	Feb 17, 2009	
+OMIM:602096	ALZHEIMER DISEASE 5					HP:0002511	Alzheimer disease	HP:0003584	Late onset	TAS	TAS							OMIM:602096	HPO:probinson	Apr 22, 2014	

Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615118.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615118.tab	2014-04-16 18:32:33 UTC (rev 5134)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615118.tab	2014-04-22 15:55:09 UTC (rev 5135)
@@ -1,22 +1,23 @@
-Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created
-OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0000885	Broad ribs			IEA	IEA						OMIM-CS:CHEST_RIBS, STERNUM, CLAVICLES, AND SCAPULAE > WIDE RIBS	OMIM:615118	HPO:skoehler	03.05.2013
-OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0004322	Short stature			IEA	IEA						OMIM-CS:GROWTH_HEIGHT > SHORT STATURE	OMIM:615118	HPO:skoehler	03.05.2013
-OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0000369	Low-set ears			IEA	IEA						OMIM-CS:HEAD AND NECK_EARS > LOW-SET EARS	OMIM:615118	HPO:skoehler	03.05.2013
-OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0000494	Downslanted palpebral fissures			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > DOWNSLANTING PALPEBRAL FISSURE	OMIM:615118	HPO:skoehler	03.05.2013
-OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0001090	Large eyes			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > LARGE EYES	OMIM:615118	HPO:skoehler	03.05.2013
-OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0000272	Malar flattening			IEA	IEA						OMIM-CS:HEAD AND NECK_FACE > MALAR HYPOPLASIA	OMIM:615118	HPO:skoehler	03.05.2013
-OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0000260	Wide anterior fontanel			IEA	IEA						OMIM-CS:HEAD AND NECK_HEAD > LARGE ANTERIOR FONTANEL	OMIM:615118	HPO:skoehler	03.05.2013
-OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0000256	Macrocephaly			IEA	IEA						OMIM-CS:HEAD AND NECK_HEAD > MACROCEPHALY	OMIM:615118	HPO:skoehler	03.05.2013
-OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0011220	Prominent forehead			IEA	IEA						OMIM-CS:HEAD AND NECK_HEAD > PROMINENT FOREHEAD	OMIM:615118	HPO:skoehler	03.05.2013
-OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0000218	High palate			IEA	IEA						OMIM-CS:HEAD AND NECK_MOUTH > HIGH PALATE	OMIM:615118	HPO:skoehler	03.05.2013
-OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0000678	Dental crowding			IEA	IEA						OMIM-CS:HEAD AND NECK_TEETH > CROWDED TEETH	OMIM:615118	HPO:skoehler	03.05.2013
-OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0000670	Carious teeth			IEA	IEA						OMIM-CS:HEAD AND NECK_TEETH > DENTAL CARIES	OMIM:615118	HPO:skoehler	03.05.2013
-OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0000156	High-arched palate			IEA	IEA						OMIM-CS:HEAD AND NECK_TEETH > HIGH-ARCHED PALATE	OMIM:615118	HPO:skoehler	03.05.2013
-OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0000695	Natal tooth			IEA	IEA						OMIM-CS:HEAD AND NECK_TEETH > NATAL TEETH	OMIM:615118	HPO:skoehler	03.05.2013
-OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0000691	Microdontia			IEA	IEA						OMIM-CS:HEAD AND NECK_TEETH > SMALL TEETH	OMIM:615118	HPO:skoehler	03.05.2013
-OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE	OMIM:615118	HPO:skoehler	03.05.2013
-OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0003155	Elevated alkaline phosphatase			IEA	IEA						OMIM-CS:LABORATORY ABNORMALITIES > INCREASED ALKALINE PHOSPHATASE	OMIM:615118	HPO:skoehler	03.05.2013
-OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0002673	Coxa valga			IEA	IEA						OMIM-CS:SKELETAL_LIMBS > COXA VALGA	OMIM:615118	HPO:skoehler	03.05.2013
-OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0002967	Cubitus valgus			IEA	IEA						OMIM-CS:SKELETAL_LIMBS > CUBITUS VALGUS	OMIM:615118	HPO:skoehler	03.05.2013
-OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0200110	Absent paranasal sinuses and mastoids			IEA	IEA						OMIM-CS:SKELETAL_OSTEOPENIA  SKULL > ABSENT PARANASAL SINUSES AND MASTOIDS	OMIM:615118	HPO:skoehler	05.06.2013
-OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0000303	Mandibular prognathia			IEA	IEA						MODIFIER:MILD;OMIM-CS:HEAD AND NECK_MOUTH > PROGNATHISM, MILD	OMIM:615118	HPO:skoehler	06.06.2013
+Disease ID	Disease Name	Gene ID	Gene Name	Genotype	Gene Symbol(s)	Phenotype ID	Phenotype Name	Age of Onset ID	Age of Onset Name	Evidence ID	Evidence Name	Frequency	Sex ID	Sex Name	Negation ID	Negation Name	Description	Pub	Assigned by	Date Created	
+OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0000885	Broad ribs			IEA	IEA						OMIM-CS:CHEST_RIBS, STERNUM, CLAVICLES, AND SCAPULAE > WIDE RIBS	OMIM:615118	HPO:skoehler	May 3, 2013	
+OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0004322	Short stature			IEA	IEA						OMIM-CS:GROWTH_HEIGHT > SHORT STATURE	OMIM:615118	HPO:skoehler	May 3, 2013	
+OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0000369	Low-set ears			IEA	IEA						OMIM-CS:HEAD AND NECK_EARS > LOW-SET EARS	OMIM:615118	HPO:skoehler	May 3, 2013	
+OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0000494	Downslanted palpebral fissures			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > DOWNSLANTING PALPEBRAL FISSURE	OMIM:615118	HPO:skoehler	May 3, 2013	
+OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0001090	Large eyes			IEA	IEA						OMIM-CS:HEAD AND NECK_EYES > LARGE EYES	OMIM:615118	HPO:skoehler	May 3, 2013	
+OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0000272	Malar flattening			IEA	IEA						OMIM-CS:HEAD AND NECK_FACE > MALAR HYPOPLASIA	OMIM:615118	HPO:skoehler	May 3, 2013	
+OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0000260	Wide anterior fontanel			IEA	IEA						OMIM-CS:HEAD AND NECK_HEAD > LARGE ANTERIOR FONTANEL	OMIM:615118	HPO:skoehler	May 3, 2013	
+OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0000256	Macrocephaly			IEA	IEA						OMIM-CS:HEAD AND NECK_HEAD > MACROCEPHALY	OMIM:615118	HPO:skoehler	May 3, 2013	
+OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0011220	Prominent forehead			IEA	IEA						OMIM-CS:HEAD AND NECK_HEAD > PROMINENT FOREHEAD	OMIM:615118	HPO:skoehler	May 3, 2013	
+OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0000218	High palate			IEA	IEA						OMIM-CS:HEAD AND NECK_MOUTH > HIGH PALATE	OMIM:615118	HPO:skoehler	May 3, 2013	
+OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0000678	Dental crowding			IEA	IEA						OMIM-CS:HEAD AND NECK_TEETH > CROWDED TEETH	OMIM:615118	HPO:skoehler	May 3, 2013	
+OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0000670	Carious teeth			IEA	IEA						OMIM-CS:HEAD AND NECK_TEETH > DENTAL CARIES	OMIM:615118	HPO:skoehler	May 3, 2013	
+OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0000156	High-arched palate			IEA	IEA						OMIM-CS:HEAD AND NECK_TEETH > HIGH-ARCHED PALATE	OMIM:615118	HPO:skoehler	May 3, 2013	
+OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0000695	Natal tooth			IEA	IEA						OMIM-CS:HEAD AND NECK_TEETH > NATAL TEETH	OMIM:615118	HPO:skoehler	May 3, 2013	
+OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0000691	Microdontia			IEA	IEA						OMIM-CS:HEAD AND NECK_TEETH > SMALL TEETH	OMIM:615118	HPO:skoehler	May 3, 2013	
+OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0000007	Autosomal recessive inheritance			TAS	TAS							OMIM:615118	HPO:skoehler	May 3, 2013	
+OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0003155	Elevated alkaline phosphatase			IEA	IEA						OMIM-CS:LABORATORY ABNORMALITIES > INCREASED ALKALINE PHOSPHATASE	OMIM:615118	HPO:skoehler	May 3, 2013	
+OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0002673	Coxa valga			IEA	IEA						OMIM-CS:SKELETAL_LIMBS > COXA VALGA	OMIM:615118	HPO:skoehler	May 3, 2013	
+OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0002967	Cubitus valgus			IEA	IEA						OMIM-CS:SKELETAL_LIMBS > CUBITUS VALGUS	OMIM:615118	HPO:skoehler	May 3, 2013	
+OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0000303	Mandibular prognathia			IEA	IEA						MODIFIER:MILD;OMIM-CS:HEAD AND NECK_MOUTH > PROGNATHISM, MILD	OMIM:615118	HPO:skoehler	Jun 6, 2013	
+OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0002689	Absent paranasal sinuses			TAS	TAS							OMIM:615118	HPO:probinson	Apr 22, 2014	
+OMIM:615118	%615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD					HP:0012761	Absent mastoid			TAS	TAS							OMIM:615118	HPO:probinson	Apr 22, 2014	

This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.

[Obo-svn-commit] SF.net SVN: obo:[5134] phenote/trunk/conf

[<nl...@us...>]

Revision: 5134
          http://sourceforge.net/p/obo/svn/5134
Author:   nlw
Date:     2014-04-16 18:32:33 +0000 (Wed, 16 Apr 2014)
Log Message:
-----------
Added new configurations for the UDP to curate animal models of fish and fly

Added Paths:
-----------
    phenote/trunk/conf/UDP_fish.cfg
    phenote/trunk/conf/UDP_fly.cfg

Added: phenote/trunk/conf/UDP_fish.cfg
===================================================================
--- phenote/trunk/conf/UDP_fish.cfg	                        (rev 0)
+++ phenote/trunk/conf/UDP_fish.cfg	2014-04-16 18:32:33 UTC (rev 5134)
@@ -0,0 +1,67 @@
+<?xml version="1.0" encoding="UTF-8"?>
+<!--*********************** CONFIG INFO **************************-->
+<ns:phenote-configuration version="1.8.6" name="Mouse Phenotypes" author="Nicole Washington"
+  description="This configuration is for recording the fish phenotypes from UDP"
+  xmlns:ns="phenote/config/xml">
+  <!--*********************** SETTINGS ****************************-->
+  <ns:master-to-local-config mode="NEVER"/>
+  <ns:log config-file="conf/log4j-standalone.xml"/>
+  <ns:uvic-graph enable="false"/>
+  <ns:term-history enable="false"/>
+  <ns:auto-update-ontologies enable="true"/>
+  <!--true=update; false=don't update-->
+  <ns:update-timer timer="0"/>
+  <!--set to 0 if you want to bypass the check; time in seconds-->
+  <ns:autocomplete-settings term="true" synonym="true" definition="false" obsolete="true"/>
+  <!--********************* FILE ADAPTERS **************************-->
+  <ns:dataadapter name="phenote.dataadapter.delimited.DelimitedFileAdapter" enable="true"/>
+  <!--******************** FIELD DEFINITIONS ***********************-->
+
+
+  <ns:field name="UDP ID" datatag="PUB" enable="true" tab="Genotype"/>
+  <ns:field name="Genotype ID" type="FREE_TEXT" datatag="GENOID" enable="true" tab="Genotype"/>
+  <ns:field name="Genotype Label" type="FREE_TEXT" datatag="GENOLABEL" enable="true" tab="Genotype"/>
+
+  <ns:field name="Gene ID" type="FREE_TEXT" datatag="GENEID" enable="true" tab="Genotype"/>
+  <ns:field name="Gene Label" type="FREE_TEXT" datatag="GENELABEL" enable="true" tab="Genotype"/>
+  <ns:field name="Background" type="FREE_TEXT" datatag="BKGD" enable="true" tab="Genotype"/>
+
+  <ns:field name="Entity" datatag="E" enable="true" tab="Phenotype">
+    <ns:ontology name="Relationship" is-postcomp-rel="true"
+      file="http://purl.obolibrary.org/obo/ro.obo"/>
+    <ns:ontology name="ZFA"
+      file="http://purl.obolibrary.org/obo/zfa.obo"/>
+    <ns:ontology name="GO"
+      file="http://purl.obolibrary.org/obo/go.obo"/>
+  </ns:field>
+  <ns:field name="Quality" datatag="Q" enable="true" tab="Phenotype">
+    <ns:ontology name="PATO"
+      file="http://purl.obolibrary.org/obo/pato.obo" />
+  </ns:field>
+  <ns:field name="Related Entity" datatag="E2" enable="true" tab="Phenotype">
+    <ns:ontology name="ZFA"
+      file="http://purl.obolibrary.org/obo/zfa.obo"/>
+    <ns:ontology name="GO"
+      file="http://purl.obolibrary.org/obo/go.obo"/>
+  </ns:field>
+  <ns:field name="Start Stage" datatag="S1" enable="true" tab="Stage">
+    <ns:ontology name="ZFS"
+      file="http://purl.obolibrary.org/obo/zfs.obo" />
+  </ns:field>
+  <ns:field name="End Stage" datatag="S2" enable="true" tab="Stage">
+    <ns:ontology name="ZFS"
+      file="http://purl.obolibrary.org/obo/zfs.obo" />
+  </ns:field>
+ 
+
+  <ns:field name="Abnormal" datatag="Tag" enable="true" tab="Phenotype" />
+  <ns:field name="Phenotype Desc" datatag="Desc" enableBigTextBox="true" enable="true" tab="Phenotype"/>
+  <ns:field name="Assay" datatag="Assay" enableBigTextBox="true" enable="true" tab="Phenotype"/>
+  <ns:field name="Curator Notes" datatag="Notes" enableBigTextBox="true" enable="true" tab="Notes"/>
+  
+  <!--******************** REVISION HISTORY ***********************-->
+  <!-- 04.15.2014 - This configuration is to capture the zebrafish phenotypes 
+                    generated as models for the UDP -->
+  <ns:field name="Date Created" enable="true" desc="Date this annotation was created"
+    isVisible="false"/>
+</ns:phenote-configuration>

Added: phenote/trunk/conf/UDP_fly.cfg
===================================================================
--- phenote/trunk/conf/UDP_fly.cfg	                        (rev 0)
+++ phenote/trunk/conf/UDP_fly.cfg	2014-04-16 18:32:33 UTC (rev 5134)
@@ -0,0 +1,67 @@
+<?xml version="1.0" encoding="UTF-8"?>
+<!--*********************** CONFIG INFO **************************-->
+<ns:phenote-configuration version="1.8.6" name="Mouse Phenotypes" author="Nicole Washington"
+  description="This configuration is for recording the fly phenotypes from UDP"
+  xmlns:ns="phenote/config/xml">
+  <!--*********************** SETTINGS ****************************-->
+  <ns:master-to-local-config mode="NEVER"/>
+  <ns:log config-file="conf/log4j-standalone.xml"/>
+  <ns:uvic-graph enable="false"/>
+  <ns:term-history enable="false"/>
+  <ns:auto-update-ontologies enable="true"/>
+  <!--true=update; false=don't update-->
+  <ns:update-timer timer="0"/>
+  <!--set to 0 if you want to bypass the check; time in seconds-->
+  <ns:autocomplete-settings term="true" synonym="true" definition="false" obsolete="true"/>
+  <!--********************* FILE ADAPTERS **************************-->
+  <ns:dataadapter name="phenote.dataadapter.delimited.DelimitedFileAdapter" enable="true"/>
+  <!--******************** FIELD DEFINITIONS ***********************-->
+
+
+  <ns:field name="UDP ID" datatag="PUB" enable="true" tab="Genotype"/>
+  <ns:field name="Genotype ID" type="FREE_TEXT" datatag="GENOID" enable="true" tab="Genotype"/>
+  <ns:field name="Genotype Label" type="FREE_TEXT" datatag="GENOLABEL" enable="true" tab="Genotype"/>
+
+  <ns:field name="Gene ID" type="FREE_TEXT" datatag="GENEID" enable="true" tab="Genotype"/>
+  <ns:field name="Gene Label" type="FREE_TEXT" datatag="GENELABEL" enable="true" tab="Genotype"/>
+  <ns:field name="Background" type="FREE_TEXT" datatag="BKGD" enable="true" tab="Genotype"/>
+
+  <ns:field name="Entity" datatag="E" enable="true" tab="Phenotype">
+    <ns:ontology name="Relationship" is-postcomp-rel="true"
+      file="http://purl.obolibrary.org/obo/ro.obo"/>
+    <ns:ontology name="FBbt"
+      file="http://purl.obolibrary.org/obo/fbbt.obo"/>
+    <ns:ontology name="GO"
+      file="http://purl.obolibrary.org/obo/go.obo"/>
+  </ns:field>
+  <ns:field name="Quality" datatag="Q" enable="true" tab="Phenotype">
+    <ns:ontology name="PATO"
+      file="http://purl.obolibrary.org/obo/pato.obo" />
+  </ns:field>
+  <ns:field name="Related Entity" datatag="E2" enable="true" tab="Phenotype">
+    <ns:ontology name="FBbt"
+      file="http://purl.obolibrary.org/obo/fbbt.obo"/>
+    <ns:ontology name="GO"
+      file="http://purl.obolibrary.org/obo/go.obo"/>
+  </ns:field>
+  <ns:field name="Start Stage" datatag="S1" enable="true" tab="Stage">
+    <ns:ontology name="FBdv"
+      file="http://purl.obolibrary.org/obo/fbdv/fbdv-simple.obo" />
+  </ns:field>
+  <ns:field name="End Stage" datatag="S2" enable="true" tab="Stage">
+    <ns:ontology name="FBdv"
+      file="http://purl.obolibrary.org/obo/fbdv/fbdv-simple.obo" />
+  </ns:field>
+ 
+
+  <ns:field name="Abnormal" datatag="Tag" enable="true" tab="Phenotype" />
+  <ns:field name="Phenotype Desc" datatag="Desc" enableBigTextBox="true" enable="true" tab="Phenotype"/>
+  <ns:field name="Assay" datatag="Assay" enableBigTextBox="true" enable="true" tab="Phenotype"/>
+  <ns:field name="Curator Notes" datatag="Notes" enableBigTextBox="true" enable="true" tab="Notes"/>
+  
+  <!--******************** REVISION HISTORY ***********************-->
+  <!-- 04.15.2014 - This configuration is to capture the zebrafish phenotypes 
+                    generated as models for the UDP -->
+  <ns:field name="Date Created" enable="true" desc="Date this annotation was created"
+    isVisible="false"/>
+</ns:phenote-configuration>

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