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From: <koe...@us...> - 2015-01-21 15:37:35
|
Revision: 5261
http://sourceforge.net/p/obo/svn/5261
Author: koehlers
Date: 2015-01-21 15:37:32 +0000 (Wed, 21 Jan 2015)
Log Message:
-----------
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/misc/makefile
Modified: phenotype-commons/annotations/OMIM/by-disease/misc/makefile
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/misc/makefile 2015-01-21 15:36:06 UTC (rev 5260)
+++ phenotype-commons/annotations/OMIM/by-disease/misc/makefile 2015-01-21 15:37:32 UTC (rev 5261)
@@ -37,6 +37,7 @@
# loads the HPO
#wget -N -P $(HPO_FOLDER) http://compbio.charite.de/hudson/job/hpo/lastSuccessfulBuild/artifact/hp/hp.obo
aria2c --max-connection-per-server=4 --min-split-size=1M http://compbio.charite.de/hudson/job/hpo/lastSuccessfulBuild/artifact/hp/hp.obo
+ mkdir -p $(HPO_FOLDER)
mv hp.obo $(HPO_FOLDER)/human-phenotype-ontology.obo
#svn --force export http://compbio.charite.de/svn/hpo/trunk/src/ontology/ $(HPO_FOLDER)
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|
|
From: <koe...@us...> - 2015-01-21 15:36:13
|
Revision: 5260
http://sourceforge.net/p/obo/svn/5260
Author: koehlers
Date: 2015-01-21 15:36:06 +0000 (Wed, 21 Jan 2015)
Log Message:
-----------
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/misc/makefile
Modified: phenotype-commons/annotations/OMIM/by-disease/misc/makefile
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/misc/makefile 2015-01-21 15:34:40 UTC (rev 5259)
+++ phenotype-commons/annotations/OMIM/by-disease/misc/makefile 2015-01-21 15:36:06 UTC (rev 5260)
@@ -36,8 +36,8 @@
svn --force export http://compbio.charite.de/svn/hpo/trunk/src/mappings/ $(ORPHANET_MAPPING)
# loads the HPO
#wget -N -P $(HPO_FOLDER) http://compbio.charite.de/hudson/job/hpo/lastSuccessfulBuild/artifact/hp/hp.obo
- cd $(HPO_FOLDER) ; aria2c --max-connection-per-server=4 --min-split-size=1M http://compbio.charite.de/hudson/job/hpo/lastSuccessfulBuild/artifact/hp/hp.obo
- mv $(HPO_FOLDER)/hp.obo $(HPO_FOLDER)/human-phenotype-ontology.obo
+ aria2c --max-connection-per-server=4 --min-split-size=1M http://compbio.charite.de/hudson/job/hpo/lastSuccessfulBuild/artifact/hp/hp.obo
+ mv hp.obo $(HPO_FOLDER)/human-phenotype-ontology.obo
#svn --force export http://compbio.charite.de/svn/hpo/trunk/src/ontology/ $(HPO_FOLDER)
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|
|
From: <koe...@us...> - 2015-01-21 15:34:44
|
Revision: 5259
http://sourceforge.net/p/obo/svn/5259
Author: koehlers
Date: 2015-01-21 15:34:40 +0000 (Wed, 21 Jan 2015)
Log Message:
-----------
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/misc/makefile
Modified: phenotype-commons/annotations/OMIM/by-disease/misc/makefile
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/misc/makefile 2015-01-21 15:33:30 UTC (rev 5258)
+++ phenotype-commons/annotations/OMIM/by-disease/misc/makefile 2015-01-21 15:34:40 UTC (rev 5259)
@@ -35,7 +35,8 @@
# loads the mapping between orphanet's signs-and-symptoms and HPO
svn --force export http://compbio.charite.de/svn/hpo/trunk/src/mappings/ $(ORPHANET_MAPPING)
# loads the HPO
- wget -N -P $(HPO_FOLDER) http://compbio.charite.de/hudson/job/hpo/lastSuccessfulBuild/artifact/hp/hp.obo
+ #wget -N -P $(HPO_FOLDER) http://compbio.charite.de/hudson/job/hpo/lastSuccessfulBuild/artifact/hp/hp.obo
+ cd $(HPO_FOLDER) ; aria2c --max-connection-per-server=4 --min-split-size=1M http://compbio.charite.de/hudson/job/hpo/lastSuccessfulBuild/artifact/hp/hp.obo
mv $(HPO_FOLDER)/hp.obo $(HPO_FOLDER)/human-phenotype-ontology.obo
#svn --force export http://compbio.charite.de/svn/hpo/trunk/src/ontology/ $(HPO_FOLDER)
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|
|
From: <koe...@us...> - 2015-01-21 15:33:38
|
Revision: 5258
http://sourceforge.net/p/obo/svn/5258
Author: koehlers
Date: 2015-01-21 15:33:30 +0000 (Wed, 21 Jan 2015)
Log Message:
-----------
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/misc/makefile
Modified: phenotype-commons/annotations/OMIM/by-disease/misc/makefile
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/misc/makefile 2015-01-21 15:31:19 UTC (rev 5257)
+++ phenotype-commons/annotations/OMIM/by-disease/misc/makefile 2015-01-21 15:33:30 UTC (rev 5258)
@@ -30,7 +30,8 @@
mkdir -p $(EXTERNAL_ORPHANET)
# Employ wget to retrieve all external ontologies as specified
# in external_ontologies. We also ignore lines starting with #
- cd $(EXTERNAL_ORPHANET) ; cat ../external_orphanet.txt | sed "/^#.*$$/d" | wget --retry-connrefused -N -i -
+ #cd $(EXTERNAL_ORPHANET) ; cat ../external_orphanet.txt | sed "/^#.*$$/d" | wget --retry-connrefused -N -i -
+ cd $(EXTERNAL_ORPHANET) ; aria2c --max-connection-per-server=4 --min-split-size=1M -i ../external_orphanet.txt
# loads the mapping between orphanet's signs-and-symptoms and HPO
svn --force export http://compbio.charite.de/svn/hpo/trunk/src/mappings/ $(ORPHANET_MAPPING)
# loads the HPO
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|
|
From: <koe...@us...> - 2015-01-21 15:31:22
|
Revision: 5257
http://sourceforge.net/p/obo/svn/5257
Author: koehlers
Date: 2015-01-21 15:31:19 +0000 (Wed, 21 Jan 2015)
Log Message:
-----------
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-248500.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613330.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-248500.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-248500.tab 2015-01-21 14:29:37 UTC (rev 5256)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-248500.tab 2015-01-21 15:31:19 UTC (rev 5257)
@@ -39,7 +39,7 @@
OMIM:248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL HP:0004570 Increased vertebral height IEA IEA OMIM:248500 HPO Feb 17, 2009
OMIM:248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL HP:0005469 Flat occiput IEA IEA OMIM:248500 HPO Feb 17, 2009
OMIM:248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL HP:0005619 Thoracolumbar kyphosis IEA IEA OMIM:248500 HPO Feb 17, 2009
-OMIM:248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL HP:0007163 Corticospinal tract disease in lower limbs IEA IEA OMIM:248500 HPO Feb 17, 2009
+OMIM:248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL HP:0007256 Abnormal pyramidal signs IEA IEA OMIM:248500 HPO Feb 17, 2009
OMIM:248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL HP:0007232 Spinocerebellar tract disease in lower limbs IEA IEA OMIM:248500 HPO Feb 17, 2009
OMIM:248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL HP:0007772 Impaired smooth pursuit HP:0003581 Adult onset IEA IEA OMIM:248500 HPO Feb 17, 2009
OMIM:248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL HP:0007893 Progressive retinal degeneration HP:0003581 Adult onset IEA IEA OMIM:248500 HPO Feb 17, 2009
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613330.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613330.tab 2015-01-21 14:29:37 UTC (rev 5256)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613330.tab 2015-01-21 15:31:19 UTC (rev 5257)
@@ -4,4 +4,5 @@
OMIM:613330 #613330 SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA; SMMD NKX3-2 HP:0004288 Pseudoepiphyses of hand bones TAS TAS OMIM:613330 HPO:probinson Jun 2, 2013
OMIM:613330 #613330 SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA; SMMD NKX3-2 HP:0100569 Abnormal vertebral ossification TAS TAS OMIM:613330 HPO:probinson Jun 2, 2013
OMIM:613330 #613330 SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA; SMMD NKX3-2 HP:0002970 Genu varum TAS TAS OMIM:613330 HPO:probinson Jun 2, 2013
-OMIM:613330 #613330 SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA; SMMD NKX3-2 HP:0000773 Short ribs TAS TAS OMIM:613330 HPO:probinson Jun 2, 2013
+OMIM:613330 #613330 SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA; SMMD NKX3-2 HP:0000773 Short ribs TAS TAS OMIM:613330 HPO:probinson Jun 2, 2013
+OMIM:613330 #613330 SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA; SMMD HP:0100255 Metaphyseal dysplasia IEA IEA Disease name contained:dylo-megaepiphyseal-metaphyseal dysplasia; smmd OMIM:613330 HPO:skoehler 21.01.2015
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|
|
From: <koe...@us...> - 2015-01-21 14:29:45
|
Revision: 5256
http://sourceforge.net/p/obo/svn/5256
Author: koehlers
Date: 2015-01-21 14:29:37 +0000 (Wed, 21 Jan 2015)
Log Message:
-----------
annotation updates. fixes http://sourceforge.net/p/obo/human-phenotype-requests/373/
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-189500.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614067.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-189500.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-189500.tab 2015-01-21 12:01:52 UTC (rev 5255)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-189500.tab 2015-01-21 14:29:37 UTC (rev 5256)
@@ -8,4 +8,4 @@
MIM:189500 WITKOP SYNDROME MIM:142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1 MSX1 HP:0008070 Sparse hair PCS PCS MIM:189500 HPO:probinson Feb 17, 2009
MIM:189500 WITKOP SYNDROME MIM:142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1 MSX1 HP:0002213 Fine hair PCS PCS MIM:189500 HPO:probinson Feb 17, 2009
MIM:189500 WITKOP SYNDROME MIM:142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1 MSX1 HP:0006349 Agenesis of permanent teeth IEA IEA MIM:189500 HPO:probinson Feb 17, 2009
-MIM:189500 WITKOP SYNDROME MIM:142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1 MSX1 HP:0006347 Microdontia of primary teeth TAS TAS Normal to small primary teeth MIM:189500 Feb 25, 2013
+MIM:189500 WITKOP SYNDROME MIM:142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1 MSX1 HP:0006347 Microdontia of primary teeth TAS TAS Normal to small primary teeth MIM:189500 HPO:probinson Feb 25, 2013
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614067.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614067.tab 2015-01-21 12:01:52 UTC (rev 5255)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614067.tab 2015-01-21 14:29:37 UTC (rev 5256)
@@ -16,3 +16,6 @@
OMIM:614067 #614067 SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52;;CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 6, FORMERLY; CPSQ6, FORMERLY HP:0001257 Spasticity IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SPASTICITY OMIM:614067 HPO:skoehler 17.10.2012
OMIM:614067 #614067 SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52;;CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 6, FORMERLY; CPSQ6, FORMERLY HP:0001371 Flexion contracture IEA IEA OMIM-CS:SKELETAL > JOINT CONTRACTURES OMIM:614067 HPO:skoehler 17.10.2012
OMIM:614067 #614067 SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52;;CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 6, FORMERLY; CPSQ6, FORMERLY HP:0001762 Talipes equinovarus IEA IEA OMIM-CS:SKELETAL_FEET > TALIPES EQUINOVARUS OMIM:614067 HPO:skoehler 17.10.2012
+OMIM:614067 #614067 SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52;;CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 6, FORMERLY; CPSQ6, FORMERLY HP:0001258 Spastic paraplegia IEA IEA Disease name contained:#614067 spastic paraplegia 52, autosomal reces OMIM:614067 HPO:skoehler 21.01.2015
+OMIM:614067 #614067 SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52;;CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 6, FORMERLY; CPSQ6, FORMERLY HP:0100021 Cerebral palsy IEA IEA Disease name contained:l recessive; spg52;;cerebral palsy, spastic quadripleg OMIM:614067 HPO:skoehler 21.01.2015
+
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|
From: <koe...@us...> - 2015-01-21 12:02:00
|
Revision: 5255
http://sourceforge.net/p/obo/svn/5255
Author: koehlers
Date: 2015-01-21 12:01:52 +0000 (Wed, 21 Jan 2015)
Log Message:
-----------
manually curated annotations
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137200.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137950.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-140700.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602247.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610954.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614653.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137200.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137200.tab 2015-01-20 20:39:01 UTC (rev 5254)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137200.tab 2015-01-21 12:01:52 UTC (rev 5255)
@@ -11,3 +11,5 @@
OMIM:137200 #137200 NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE; NMAN;;GAMSTORP-WOHLFART SYNDROME;;MYOKYMIA, MYOTONIA, AND MUSCLE WASTING HP:0003552 Muscle stiffness IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE STIFFNESS OMIM:137200 HPO:skoehler 16.11.2012
OMIM:137200 #137200 NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE; NMAN;;GAMSTORP-WOHLFART SYNDROME;;MYOKYMIA, MYOTONIA, AND MUSCLE WASTING HP:0003390 Sensory axonal neuropathy IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > AXONAL SENSORY NEUROPATHY OMIM:137200 HPO:skoehler 16.11.2012
OMIM:137200 #137200 NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE; NMAN;;GAMSTORP-WOHLFART SYNDROME;;MYOKYMIA, MYOTONIA, AND MUSCLE WASTING HP:0001760 Abnormality of the foot IEA IEA OMIM-CS:SKELETAL_FEET > FOOT DEFORMITIES OMIM:137200 HPO:skoehler 16.11.2012
+OMIM:137200 #137200 NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE; NMAN;;GAMSTORP-WOHLFART SYNDROME;;MYOKYMIA, MYOTONIA, AND MUSCLE WASTING HP:0003202 Skeletal muscle atrophy IEA IEA Disease name contained:ymia, myotonia, and muscle wasting OMIM:137200 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137950.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137950.tab 2015-01-20 20:39:01 UTC (rev 5254)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137950.tab 2015-01-21 12:01:52 UTC (rev 5255)
@@ -8,3 +8,5 @@
OMIM:137950 %137950 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 1; GFND1;;GLOMERULOPATHY WITH GIANT FIBRILLAR DEPOSITS;;LOBULAR GLOMERULOPATHY, FAMILIAL HP:0003774 End stage renal disease IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > END-STAGE RENAL DISEASE OMIM:137950 HPO:skoehler 17.10.2012
OMIM:137950 %137950 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 1; GFND1;;GLOMERULOPATHY WITH GIANT FIBRILLAR DEPOSITS;;LOBULAR GLOMERULOPATHY, FAMILIAL HP:0000083 Renal insufficiency IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > RENAL FAILURE OMIM:137950 HPO:skoehler 17.10.2012
OMIM:137950 %137950 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 1; GFND1;;GLOMERULOPATHY WITH GIANT FIBRILLAR DEPOSITS;;LOBULAR GLOMERULOPATHY, FAMILIAL HP:0003677 Slow progression IEA IEA OMIM-CS:MISCELLANEOUS > SLOW PROGRESSION OMIM:137950 HPO:skoehler 17.10.2012
+OMIM:137950 %137950 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 1; GFND1;;GLOMERULOPATHY WITH GIANT FIBRILLAR DEPOSITS;;LOBULAR GLOMERULOPATHY, FAMILIAL HP:0008636 Lobular glomerulopathy IEA IEA Disease name contained: deposits 1; gfnd1;;glomerulopathy with giant fibrilla OMIM:137950 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-140700.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-140700.tab 2015-01-20 20:39:01 UTC (rev 5254)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-140700.tab 2015-01-21 12:01:52 UTC (rev 5255)
@@ -2,3 +2,5 @@
OMIM:140700 HEINZ BODY ANEMIAS HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:140700 HPO 17.02.2009
OMIM:140700 HEINZ BODY ANEMIAS HP:0001930 Nonspherocytic hemolytic anemia IEA IEA OMIM:140700 HPO 17.02.2009
OMIM:140700 HEINZ BODY ANEMIAS HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:140700 HPO 17.02.2009
+OMIM:140700 HEINZ BODY ANEMIAS HP:0005511 Heinz body anemia IEA IEA Disease name contained:heinz body anemias OMIM:140700 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602247.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602247.tab 2015-01-20 20:39:01 UTC (rev 5254)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602247.tab 2015-01-21 12:01:52 UTC (rev 5255)
@@ -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:602247 XANTHOMATOSIS, SUSCEPTIBILITY TO HP:0000951 Abnormality of the skin IEA IEA OMIM:602247 HPO 17.02.2009
OMIM:602247 XANTHOMATOSIS, SUSCEPTIBILITY TO HP:0003124 Hypercholesterolemia IEA IEA OMIM:602247 HPO:skoehler 20.06.2010
+OMIM:602247 XANTHOMATOSIS, SUSCEPTIBILITY TO HP:0000991 Xanthomatosis IEA IEA Disease name contained:found in title: xanthomatosis, susceptibility to OMIM:602247 HPO:skoehler 21.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610954.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610954.tab 2015-01-20 20:39:01 UTC (rev 5254)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610954.tab 2015-01-21 12:01:52 UTC (rev 5255)
@@ -36,3 +36,6 @@
OMIM:610954 #610954 PITT-HOPKINS SYNDROME; PTHS;;ENCEPHALOPATHY, SEVERE EPILEPTIC, WITH AUTONOMIC DYSFUNCTION;;MENTAL RETARDATION, SYNDROMAL, WITH INTERMITTENT HYPERVENTILATION HP:0000954 Single transverse palmar crease IEA IEA OMIM-CS:SKELETAL_HANDS > SIMIAN CREASE OMIM:610954 HPO:skoehler 17.10.2012
OMIM:610954 #610954 PITT-HOPKINS SYNDROME; PTHS;;ENCEPHALOPATHY, SEVERE EPILEPTIC, WITH AUTONOMIC DYSFUNCTION;;MENTAL RETARDATION, SYNDROMAL, WITH INTERMITTENT HYPERVENTILATION HP:0001182 Tapered finger IEA IEA OMIM-CS:SKELETAL_HANDS > TAPERED FINGERS OMIM:610954 HPO:skoehler 31.05.2013
OMIM:610954 #610954 PITT-HOPKINS SYNDROME; PTHS;;ENCEPHALOPATHY, SEVERE EPILEPTIC, WITH AUTONOMIC DYSFUNCTION;;MENTAL RETARDATION, SYNDROMAL, WITH INTERMITTENT HYPERVENTILATION HP:0030084 Clinodactyly IEA IEA OMIM-CS:SKELETAL_HANDS > CLINODACTYLY OMIM:610954 HPO:skoehler 21.09.2014
+OMIM:610954 #610954 PITT-HOPKINS SYNDROME; PTHS;;ENCEPHALOPATHY, SEVERE EPILEPTIC, WITH AUTONOMIC DYSFUNCTION;;MENTAL RETARDATION, SYNDROMAL, WITH INTERMITTENT HYPERVENTILATION HP:0004879 intermittent hyperventilation IEA IEA Disease name contained:on, syndromal, with intermittent hyperventilationpitt-hopkins syndrom OMIM:610954 HPO:skoehler 21.01.2015
+OMIM:610954 #610954 PITT-HOPKINS SYNDROME; PTHS;;ENCEPHALOPATHY, SEVERE EPILEPTIC, WITH AUTONOMIC DYSFUNCTION;;MENTAL RETARDATION, SYNDROMAL, WITH INTERMITTENT HYPERVENTILATION HP:0001298 Encephalopathy IEA IEA Disease name contained:ins syndrome; pths;;encephalopathy, severe epileptic, OMIM:610954 HPO:skoehler 21.01.2015
+OMIM:610954 #610954 PITT-HOPKINS SYNDROME; PTHS;;ENCEPHALOPATHY, SEVERE EPILEPTIC, WITH AUTONOMIC DYSFUNCTION;;MENTAL RETARDATION, SYNDROMAL, WITH INTERMITTENT HYPERVENTILATION HP:0002459 Dysautonomia IEA IEA Disease name contained:ere epileptic, with autonomic dysfunction;;mental retardation OMIM:610954 HPO:skoehler 21.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614653.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614653.tab 2015-01-20 20:39:01 UTC (rev 5254)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614653.tab 2015-01-21 12:01:52 UTC (rev 5255)
@@ -20,4 +20,6 @@
OMIM:614653 #614653 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI; HSAN6;;HSAN VI HP:0001945 Fever IEA IEA OMIM-CS:METABOLIC FEATURES > UNEXPLAINED FEVER OMIM:614653 HPO:skoehler Nov 21, 2012
OMIM:614653 #614653 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI; HSAN6;;HSAN VI HP:0002104 Apnea IEA IEA OMIM-CS:RESPIRATORY > EPISODIC APNEA OMIM:614653 HPO:skoehler Nov 21, 2012
OMIM:614653 #614653 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI; HSAN6;;HSAN VI HP:0007610 Blotching pigmentation of the skin IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > ERYTHEMATOUS BLOTCHING, EPISODIC OMIM:614653 HPO:skoehler Nov 21, 2012
-OMIM:614653 #614653 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI; HSAN6;;HSAN VI HP:0000975 Hyperhidrosis IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > SWEATING, EPISODIC OMIM:614653 HPO:skoehler Nov 21, 2012
+OMIM:614653 #614653 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI; HSAN6;;HSAN VI HP:0000975 Hyperhidrosis IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > SWEATING, EPISODIC OMIM:614653 HPO:skoehler Nov 21, 2012
+OMIM:614653 #614653 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI; HSAN6;;HSAN VI HP:0000763 Sensory neuropathy IEA IEA From OMIM title OMIM:614653 HPO:skoehler Nov 21, 2012
+
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <koe...@us...> - 2015-01-20 20:39:03
|
Revision: 5254
http://sourceforge.net/p/obo/svn/5254
Author: koehlers
Date: 2015-01-20 20:39:01 +0000 (Tue, 20 Jan 2015)
Log Message:
-----------
manual annotation updates
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-164680.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-263100.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609655.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612916.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-164680.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-164680.tab 2015-01-20 11:05:07 UTC (rev 5253)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-164680.tab 2015-01-20 20:39:01 UTC (rev 5254)
@@ -4,3 +4,7 @@
OMIM:164680 ONYCHOGRYPOSIS, PEDAL, WITH KERATOSIS PLANTARIS AND COARSE HAIR HP:0008070 Sparse hair IEA IEA OMIM:164680 HPO:skoehler 20.06.2010
OMIM:164680 ONYCHOGRYPOSIS, PEDAL, WITH KERATOSIS PLANTARIS AND COARSE HAIR HP:0008401 Onychogryposis of toenails IEA IEA OMIM:164680 HPO 17.02.2009
OMIM:164680 164680 ONYCHOGRYPOSIS, PEDAL, WITH KERATOSIS PLANTARIS AND COARSE HAIR HP:0001231 Abnormality of the fingernails IEA IEA NOT NOT OMIM-CS:NAILS > NORMAL FINGERNAILS OMIM:164680 HPO:skoehler 27.11.2014
+OMIM:164680 164680 ONYCHOGRYPOSIS, PEDAL, WITH KERATOSIS PLANTARIS AND COARSE HAIR HP:0002208 Coarse hair IEA IEA Disease name contained:found in title: tosis plantaris and coarse hair OMIM:164680 HPO:skoehler 20.01.2015
+OMIM:164680 164680 ONYCHOGRYPOSIS, PEDAL, WITH KERATOSIS PLANTARIS AND COARSE HAIR HP:0011359 Dry hair IEA IEA OMIM-CS:dry hair OMIM:164680 HPO:skoehler 20.01.2015
+
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-263100.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-263100.tab 2015-01-20 11:05:07 UTC (rev 5253)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-263100.tab 2015-01-20 20:39:01 UTC (rev 5254)
@@ -3,5 +3,5 @@
OMIM:263100 POLYCYSTIC KIDNEY, CATARACT, AND CONGENITAL BLINDNESS HP:0000113 Polycystic kidney dysplasia IEA IEA OMIM:263100 HPO 17.02.2009
OMIM:263100 POLYCYSTIC KIDNEY, CATARACT, AND CONGENITAL BLINDNESS HP:0000518 Cataract TAS TAS Central cataract OMIM:263100 HPO:probinson 17.02.2009
OMIM:263100 POLYCYSTIC KIDNEY, CATARACT, AND CONGENITAL BLINDNESS HP:0000556 Retinal dystrophy IEA IEA OMIM:263100 HPO 17.02.2009
-OMIM:263100 POLYCYSTIC KIDNEY, CATARACT, AND CONGENITAL BLINDNESS HP:0000618 Blindness IEA IEA OMIM:263100 HPO 17.02.2009
+OMIM:263100 POLYCYSTIC KIDNEY, CATARACT, AND CONGENITAL BLINDNESS HP:0007875 Congenital blindness IEA IEA OMIM:263100 HPO:skoehler 20.01.2015
OMIM:263100 POLYCYSTIC KIDNEY, CATARACT, AND CONGENITAL BLINDNESS HP:0007770 Retinal hypoplasia IEA IEA OMIM:263100 HPO 17.02.2009
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609655.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609655.tab 2015-01-20 11:05:07 UTC (rev 5253)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609655.tab 2015-01-20 20:39:01 UTC (rev 5254)
@@ -5,4 +5,5 @@
OMIM:609655 TALO-PATELLO-SCAPHOID OSTEOLYSIS, SYNOVITIS, AND SHORT FOURTH METACARPALS HP:0006378 Osteolysis of patellae TAS TAS OMIM:609655 HPO:probinson 17.02.2009
OMIM:609655 TALO-PATELLO-SCAPHOID OSTEOLYSIS, SYNOVITIS, AND SHORT FOURTH METACARPALS HP:0008095 Osteolysis of talus TAS TAS OMIM:609655 HPO:probinson 17.02.2009
OMIM:609655 TALO-PATELLO-SCAPHOID OSTEOLYSIS, SYNOVITIS, AND SHORT FOURTH METACARPALS HP:0010044 Short 4th metacarpal TAS TAS OMIM:609655 HPO:probinson 17.02.2009
-OMIM:609655 TALO-PATELLO-SCAPHOID OSTEOLYSIS, SYNOVITIS, AND SHORT FOURTH METACARPALS HP:0003621 Juvenile onset TAS TAS OMIM:609655 HPO:probinson 17.07.2012
+OMIM:609655 TALO-PATELLO-SCAPHOID OSTEOLYSIS, SYNOVITIS, AND SHORT FOURTH METACARPALS HP:0003621 Juvenile onset TAS TAS OMIM:609655 HPO:probinson 17.07.2012
+OMIM:609655 TALO-PATELLO-SCAPHOID OSTEOLYSIS, SYNOVITIS, AND SHORT FOURTH METACARPALS HP:0100769 Synovitis IEA IEA Disease name contained:found in title: caphoid osteolysis, synovitis, and short fourth m OMIM:609655 HPO:skoehler 20.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612916.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612916.tab 2015-01-20 11:05:07 UTC (rev 5253)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612916.tab 2015-01-20 20:39:01 UTC (rev 5254)
@@ -18,3 +18,4 @@
OMIM:612916 612916 ZECHI-CEIDE SYNDROME;;OCCIPITAL ATRETIC CEPHALOCELE, UNUSUAL FACIES, AND LARGE FEET HP:0001320 Cerebellar vermis hypoplasia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPOPLASTIC CEREBELLAR VERMIS OMIM:612916 HPO:skoehler 18.11.2012
OMIM:612916 612916 ZECHI-CEIDE SYNDROME;;OCCIPITAL ATRETIC CEPHALOCELE, UNUSUAL FACIES, AND LARGE FEET HP:0011800 Midface retrusion IEA IEA OMIM-CS:HEAD AND NECK_FACE > MIDFACE HYPOPLASIA OMIM:612916 HPO:skoehler 28.11.2013
OMIM:612916 612916 ZECHI-CEIDE SYNDROME;;OCCIPITAL ATRETIC CEPHALOCELE, UNUSUAL FACIES, AND LARGE FEET HP:0012745 Short palpebral fissure IEA IEA OMIM-CS:HEAD AND NECK_EYES > SHORT PALPEBRAL FISSURES OMIM:612916 HPO:skoehler 24.03.2014
+OMIM:612916 612916 ZECHI-CEIDE SYNDROME;;OCCIPITAL ATRETIC CEPHALOCELE, UNUSUAL FACIES, AND LARGE FEET HP:0001833 Long foot IEA IEA Disease name contained: unusual facies, and large feet OMIM:612916 HPO:skoehler 20.01.2015
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <koe...@us...> - 2015-01-20 11:05:10
|
Revision: 5253
http://sourceforge.net/p/obo/svn/5253
Author: koehlers
Date: 2015-01-20 11:05:07 +0000 (Tue, 20 Jan 2015)
Log Message:
-----------
annotation updates
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-115310.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-148210.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-153400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-168000.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-176270.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-182250.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-191480.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-191482.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-219090.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-223300.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-223900.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-226980.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-235255.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-239710.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-256720.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-256800.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-268305.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-270400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-271640.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-271665.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300354.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601650.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604121.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604314.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-605373.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607625.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608161.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610293.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612069.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614250.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614602.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615954.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616028.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-115310.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-115310.tab 2015-01-19 19:40:36 UTC (rev 5252)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-115310.tab 2015-01-20 11:05:07 UTC (rev 5253)
@@ -21,3 +21,4 @@
OMIM:115310 #115310 PARAGANGLIOMAS 4; PGL4;;CAROTID BODY TUMORS AND MULTIPLE EXTRAADRENAL PHEOCHROMOCYTOMAS;;PHEOCHROMOCYTOMA, EXTRAADRENAL, AND CERVICAL PARAGANGLIOMA;;PARAGANGLIOMAS, HEREDITARY EXTRAADRENAL;;PHEOCHROMOCYTOMA, FAMILIAL EXTRAADRENAL;;PARAGANGLIOMA, FAMILIAL MALIGNANT HP:0100723 Gastrointestinal stroma tumor IEA IEA rare OMIM-CS:NEOPLASIA > GASTROINTESTINAL STROMAL TUMORS (LESS COMMON) OMIM:115310 HPO:skoehler Nov 16, 2012
OMIM:115310 #115310 PARAGANGLIOMAS 4; PGL4;;CAROTID BODY TUMORS AND MULTIPLE EXTRAADRENAL PHEOCHROMOCYTOMAS;;PHEOCHROMOCYTOMA, EXTRAADRENAL, AND CERVICAL PARAGANGLIOMA;;PARAGANGLIOMAS, HEREDITARY EXTRAADRENAL;;PHEOCHROMOCYTOMA, FAMILIAL EXTRAADRENAL;;PARAGANGLIOMA, FAMILIAL MALIGNANT HP:0002668 Paraganglioma IEA IEA OMIM-CS:NEOPLASIA > PARAGANGLIOMAS OMIM:115310 HPO:skoehler Nov 16, 2012
OMIM:115310 #115310 PARAGANGLIOMAS 4; PGL4;;CAROTID BODY TUMORS AND MULTIPLE EXTRAADRENAL PHEOCHROMOCYTOMAS;;PHEOCHROMOCYTOMA, EXTRAADRENAL, AND CERVICAL PARAGANGLIOMA;;PARAGANGLIOMAS, HEREDITARY EXTRAADRENAL;;PHEOCHROMOCYTOMA, FAMILIAL EXTRAADRENAL;;PARAGANGLIOMA, FAMILIAL MALIGNANT HP:0003829 Incomplete penetrance IEA IEA OMIM-CS:MISCELLANEOUS > INCOMPLETE PENETRANCE (RANGE 13% TO 77% BY 50 YEARS OF AGE) OMIM:115310 HPO:skoehler 02.04.2013
+OMIM:115310 #115310 PARAGANGLIOMAS 4; PGL4;;CAROTID BODY TUMORS AND MULTIPLE EXTRAADRENAL PHEOCHROMOCYTOMAS;;PHEOCHROMOCYTOMA, EXTRAADRENAL, AND CERVICAL PARAGANGLIOMA;;PARAGANGLIOMAS, HEREDITARY EXTRAADRENAL;;PHEOCHROMOCYTOMA, FAMILIAL EXTRAADRENAL;;PARAGANGLIOMA, FAMILIAL MALIGNANT HP:0030074 Chemodectoma IEA IEA OMIM-CS:NEOPLASIA > CHEMODECTOMAS OMIM:115310 HPO:skoehler 20.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-148210.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-148210.tab 2015-01-19 19:40:36 UTC (rev 5252)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-148210.tab 2015-01-20 11:05:07 UTC (rev 5253)
@@ -22,3 +22,4 @@
OMIM:148210 #148210 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT;;KID SYNDROME, AUTOSOMAL DOMINANT HP:0002164 Nail dysplasia IEA IEA OMIM-CS:SKIN, NAILS, HAIR_NAILS > NAIL DYSTROPHY, VARIABLE OMIM:148210 HPO:skoehler Nov 21, 2012
OMIM:148210 #148210 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT;;KID SYNDROME, AUTOSOMAL DOMINANT HP:0008064 Ichthyosiform abnormality of the skin IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > MILD LAMELLAR ICHTHYOSIS OMIM:148210 HPO:skoehler Nov 21, 2012
OMIM:148210 #148210 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT;;KID SYNDROME, AUTOSOMAL DOMINANT HP:0000559 Corneal scarring IEA IEA OMIM-CS:HEAD AND NECK_EYES > SUPERFICIAL AND DEEP CORNEAL STROMAL VASCULARIZATION WITH SCARRING OMIM:148210 HPO:skoehler Nov 26, 2012
+OMIM:148210 #148210 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT;;KID SYNDROME, AUTOSOMAL DOMINANT HP:0012804 Corneal ulceration IEA IEA OMIM-CS:HEAD AND NECK_EYES > CORNEAL ULCERATION OMIM:148210 HPO:skoehler 20.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-153400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-153400.tab 2015-01-19 19:40:36 UTC (rev 5252)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-153400.tab 2015-01-20 11:05:07 UTC (rev 5253)
@@ -15,3 +15,4 @@
OMIM:153400 LYMPHEDEMA-DISTICHIASIS SYNDROME HP:0011675 Arrhythmia IEA IEA OMIM:153400 HPO 17.02.2009
OMIM:153400 #153400 LYMPHEDEMA-DISTICHIASIS SYNDROME;;LYMPHEDEMA WITH DISTICHIASISLYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS,INCLUDED HP:0001643 Patent ductus arteriosus IEA IEA OMIM-CS:CARDIOVASCULAR_VASCULAR > PATENT DUCTUS ARTERIOSUS OMIM:153400 HPO:skoehler 17.10.2012
OMIM:153400 #153400 LYMPHEDEMA-DISTICHIASIS SYNDROME;;LYMPHEDEMA WITH DISTICHIASISLYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS,INCLUDED HP:0000508 Ptosis IEA IEA OMIM-CS:HEAD AND NECK_EYES > PTOSIS OMIM:153400 HPO:skoehler 17.10.2012
+OMIM:153400 #153400 LYMPHEDEMA-DISTICHIASIS SYNDROME;;LYMPHEDEMA WITH DISTICHIASISLYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS,INCLUDED HP:0012804 Corneal ulceration IEA IEA OMIM-CS:HEAD AND NECK_EYES > CORNEAL ULCERATION OMIM:153400 HPO:skoehler 20.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-168000.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-168000.tab 2015-01-19 19:40:36 UTC (rev 5252)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-168000.tab 2015-01-20 11:05:07 UTC (rev 5253)
@@ -23,3 +23,4 @@
OMIM:168000 PARAGANGLIOMAS 1 HP:0006715 Glomus tympanicum paraganglioma IEA IEA OMIM:168000 HPO 17.02.2009
OMIM:168000 PARAGANGLIOMAS 1 HP:0006737 Extraadrenal pheochromocytoma IEA IEA OMIM:168000 HPO 17.02.2009
OMIM:168000 PARAGANGLIOMAS 1 HP:0006748 Adrenal pheochromocytoma IEA IEA OMIM:168000 HPO 17.02.2009
+OMIM:168000 #168000 PARAGANGLIOMAS 1; PGL1;;PARAGANGLIOMAS, FAMILIAL, 1;;PARAGANGLIOMATA; PGL;;GLOMUS TUMORS, FAMILIAL, 1;;CHEMODECTOMAS;;CAROTID BODY TUMORS; CBT1;;GLOMUS JUGULARE TUMORS;;PARAGANGLIOMA, CAROTID BODY;;PARAGANGLIOMAS, FAMILIAL NONCHROMAFFIN, 1PARAGANGLIOMAS WITH SENSORINEURAL HEARING LOSS, INCLUDED HP:0030074 Chemodectoma IEA IEA OMIM-CS:NEOPLASIA > CHEMODECTOMAS OMIM:168000 HPO:skoehler 20.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-176270.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-176270.tab 2015-01-19 19:40:36 UTC (rev 5252)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-176270.tab 2015-01-20 11:05:07 UTC (rev 5253)
@@ -77,3 +77,4 @@
OMIM:176270 #176270 PRADER-WILLI SYNDROME; PWS;;PRADER-LABHART-WILLI SYNDROMEPRADER-WILLI SYNDROME CHROMOSOME REGION, INCLUDED; PWCR, INCLUDED;;PRADER-WILLI-LIKE SYNDROME ASSOCIATED WITH CHROMOSOME 6, INCLUDED HP:0200086 Thin upper lip IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > THIN UPPER LIP OMIM:176270 HPO:skoehler 04.06.2013
OMIM:176270 #176270 PRADER-WILLI SYNDROME; PWS;;PRADER-LABHART-WILLI SYNDROMEPRADER-WILLI SYNDROME CHROMOSOME REGION, INCLUDED; PWCR, INCLUDED;;PRADER-WILLI-LIKE SYNDROME ASSOCIATED WITH CHROMOSOME 6, INCLUDED HP:0030084 Clinodactyly IEA IEA OMIM-CS:SKELETAL_HANDS > CLINODACTYLY OMIM:176270 HPO:skoehler 21.09.2014
OMIM:176270 #176270 PRADER-WILLI SYNDROME; PWS;;PRADER-LABHART-WILLI SYNDROMEPRADER-WILLI SYNDROME CHROMOSOME REGION, INCLUDED; PWCR, INCLUDED;;PRADER-WILLI-LIKE SYNDROME ASSOCIATED WITH CHROMOSOME 6, INCLUDED HP:0001249 Intellectual disability IEA IEA NOT NOT OMIM-CS:GROWTH_HEIGHT > NORMAL BIRTH LENGTH OMIM:176270 HPO:skoehler 27.11.2014
+OMIM:176270 #176270 PRADER-WILLI SYNDROME; PWS;;PRADER-LABHART-WILLI SYNDROMEPRADER-WILLI SYNDROME CHROMOSOME REGION, INCLUDED; PWCR, INCLUDED;;PRADER-WILLI-LIKE SYNDROME ASSOCIATED WITH CHROMOSOME 6, INCLUDED HP:0012743 Abdominal obesity IEA IEA OMIM-CS:GROWTH_WEIGHT > CENTRAL OBESITY OMIM:176270 HPO:skoehler 20.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-182250.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-182250.tab 2015-01-19 19:40:36 UTC (rev 5252)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-182250.tab 2015-01-20 11:05:07 UTC (rev 5253)
@@ -33,3 +33,4 @@
OMIM:182250 SINGLETON-MERTEN SYNDROME HP:0008102 Expanded metatarsals with widened medullary cavities IEA IEA OMIM:182250 HPO Feb 17, 2009
OMIM:182250 SINGLETON-MERTEN SYNDROME HP:0009771 Osteolytic defects of the phalanges of the hand IEA IEA OMIM:182250 HPO Feb 17, 2009
OMIM:182250 %182250 SINGLETON-MERTEN SYNDROME HP:0001650 Aortic valve stenosis IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > AORTIC STENOSIS OMIM:182250 HPO:skoehler Oct 17, 2012
+OMIM:182250 %182250 SINGLETON-MERTEN SYNDROME HP:0030043 Hip Subluxation IEA IEA OMIM-CS:SKELETAL_PELVIS > HIP SUBLUXATION OMIM:182250 HPO:skoehler 20.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-191480.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-191480.tab 2015-01-19 19:40:36 UTC (rev 5252)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-191480.tab 2015-01-20 11:05:07 UTC (rev 5253)
@@ -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:191480 UNCOMBABLE HAIR SYNDROME HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:191480 HPO 17.02.2009
OMIM:191480 UNCOMBABLE HAIR SYNDROME HP:0002235 Pili canaliculi IEA IEA OMIM:191480 HPO 17.02.2009
+OMIM:191480 %191480 UNCOMBABLE HAIR SYNDROME;;PILI TRIANGULI ET CANALICULI HP:0030056 Uncombable hair IEA IEA OMIM-CS:SKIN, NAILS, HAIR_HAIR > UNCOMBABLE HAIR OMIM:191480 HPO:skoehler 20.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-191482.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-191482.tab 2015-01-19 19:40:36 UTC (rev 5252)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-191482.tab 2015-01-20 11:05:07 UTC (rev 5253)
@@ -13,3 +13,4 @@
OMIM:191482 UNCOMBABLE HAIR, RETINAL PIGMENTARY DYSTROPHY, DENTAL ANOMALIES, ANDBRACHYDACTYLY HP:0010049 Short metacarpal TAS TAS OMIM:191482 HPO:probinson 10.06.2012
OMIM:191482 191482 UNCOMBABLE HAIR, RETINAL PIGMENTARY DYSTROPHY, DENTAL ANOMALIES, ANDBRACHYDACTYLY;;BORK SYNDROME HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_FEET > BRACHYDACTYLY OMIM:191482 HPO:skoehler 26.11.2014
OMIM:191482 191482 UNCOMBABLE HAIR, RETINAL PIGMENTARY DYSTROPHY, DENTAL ANOMALIES, ANDBRACHYDACTYLY;;BORK SYNDROME HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY OMIM:191482 HPO:skoehler 26.11.2014
+OMIM:191482 191482 UNCOMBABLE HAIR, RETINAL PIGMENTARY DYSTROPHY, DENTAL ANOMALIES, ANDBRACHYDACTYLY;;BORK SYNDROME HP:0030056 Uncombable hair IEA IEA OMIM-CS:SKIN, NAILS, HAIR_HAIR > UNCOMBABLE HAIR OMIM:191482 HPO:skoehler 20.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-219090.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-219090.tab 2015-01-19 19:40:36 UTC (rev 5252)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-219090.tab 2015-01-20 11:05:07 UTC (rev 5253)
@@ -22,3 +22,4 @@
OMIM:219090 PITUITARY ADENOMA, ACTH-SECRETING HP:0003202 Amyotrophy IEA IEA OMIM:219090 HPO 17.02.2009
OMIM:219090 PITUITARY ADENOMA, ACTH-SECRETING HP:0004586 Biconcave vertebral bodies IEA IEA OMIM:219090 HPO 17.02.2009
OMIM:219090 PITUITARY ADENOMA, ACTH-SECRETING HP:0100852 Abnormal fear/anxiety-related behavior IEA IEA OMIM:219090 HPO 17.02.2009
+OMIM:219090 #219090 PITUITARY ADENOMA, ACTH-SECRETING;;CUSHING DISEASE, PITUITARY HP:0012743 Abdominal obesity IEA IEA OMIM-CS:MISC > CENTRAL OBESITY OMIM:219090 HPO:skoehler 20.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-223300.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-223300.tab 2015-01-19 19:40:36 UTC (rev 5252)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-223300.tab 2015-01-20 11:05:07 UTC (rev 5253)
@@ -2,3 +2,4 @@
OMIM:223300 DISSEMINATED SCLEROSIS WITH NARCOLEPSY HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:223300 HPO 17.02.2009
OMIM:223300 DISSEMINATED SCLEROSIS WITH NARCOLEPSY HP:0000707 Abnormality of the nervous system IEA IEA OMIM:223300 HPO 17.02.2009
OMIM:223300 223300 DISSEMINATED SCLEROSIS WITH NARCOLEPSY HP:0002524 Cataplexy IEA IEA OMIM-CS:NEURO > NARCOLEPSY OMIM:223300 HPO:skoehler 18.11.2013
+OMIM:223300 223300 DISSEMINATED SCLEROSIS WITH NARCOLEPSY HP:0030050 Narcolepsy IEA IEA OMIM-CS:NEURO > NARCOLEPSY OMIM:223300 HPO:skoehler 20.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-223900.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-223900.tab 2015-01-19 19:40:36 UTC (rev 5252)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-223900.tab 2015-01-20 11:05:07 UTC (rev 5253)
@@ -31,3 +31,4 @@
OMIM:223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III HP:0008000 Decreased corneal reflex IEA IEA OMIM:223900 HPO 17.02.2009
OMIM:223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III HP:0008872 Feeding difficulties in infancy IEA IEA OMIM:223900 HPO 17.02.2009
OMIM:223900 #223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3;;HSAN III;;DYSAUTONOMIA, FAMILIAL; DYS; FD;;RILEY-DAY SYNDROME HP:0001265 Hyporeflexia IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > HYPOREFLEXIA OMIM:223900 HPO:skoehler 17.10.2012
+OMIM:223900 #223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3;;HSAN III;;DYSAUTONOMIA, FAMILIAL; DYS; FD;;RILEY-DAY SYNDROME HP:0012804 Corneal ulceration IEA IEA OMIM-CS:HEAD AND NECK_EYES > CORNEAL ULCERATION OMIM:223900 HPO:skoehler 20.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-226980.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-226980.tab 2015-01-19 19:40:36 UTC (rev 5252)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-226980.tab 2015-01-20 11:05:07 UTC (rev 5253)
@@ -35,3 +35,4 @@
OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0003071 Flattened epiphyses TAS TAS OMIM:226980 HPO:probinson Apr 8, 2013
OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0010585 Small epiphyses TAS TAS OMIM:226980 HPO:probinson Apr 8, 2013
OMIM:226980 #226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS;;MED-IDDM SYNDROME;;IDDM-MED SYNDROME;;WOLCOTT-RALLISON SYNDROME HP:0003307 Hyperlordosis TAS TAS OMIM:226980 HPO:skoehler Apr 18, 2013
+OMIM:226980 #226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS;;MED-IDDM SYNDROME;;IDDM-MED SYNDROME;;WOLCOTT-RALLISON SYNDROME HP:0030043 Hip Subluxation IEA IEA OMIM-CS:SKELETAL_PELVIS > HIP SUBLUXATION OMIM:226980 HPO:skoehler 20.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-235255.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-235255.tab 2015-01-19 19:40:36 UTC (rev 5252)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-235255.tab 2015-01-20 11:05:07 UTC (rev 5253)
@@ -39,3 +39,4 @@
OMIM:235255 MULLERIAN DERIVATIVES, PERSISTENCE OF, WITH LYMPHANGIECTASIA AND POSTAXIALPOLYDACTYLY HP:0006521 Pulmonary lymphangiectasia IEA IEA OMIM:235255 HPO 17.02.2009
OMIM:235255 MULLERIAN DERIVATIVES, PERSISTENCE OF, WITH LYMPHANGIECTASIA AND POSTAXIALPOLYDACTYLY HP:0008229 Thyroid lymphangiectasia IEA IEA OMIM:235255 HPO 17.02.2009
OMIM:235255 MULLERIAN DERIVATIVES, PERSISTENCE OF, WITH LYMPHANGIECTASIA AND POSTAXIALPOLYDACTYLY HP:0009085 Alveolar ridge overgrowth IEA IEA OMIM:235255 HPO 17.02.2009
+OMIM:235255 %235255 MULLERIAN DERIVATIVES, PERSISTENCE OF, WITH LYMPHANGIECTASIA AND POSTAXIALPOLYDACTYLY;;URIOSTE SYNDROME HP:0005989 Redundant neck skin IEA IEA OMIM-CS:HEAD AND NECK_NECK > REDUNDANT NUCHAL SKIN OMIM:235255 HPO:skoehler 20.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-239710.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-239710.tab 2015-01-19 19:40:36 UTC (rev 5252)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-239710.tab 2015-01-20 11:05:07 UTC (rev 5253)
@@ -24,3 +24,4 @@
MIM:239710 ACROFRONTOFACIONASAL DYSOSTOSIS 2 HP:0004322 Short stature TAS TAS MIM:239710 HPO:probinson 01.05.2012
MIM:239710 ACROFRONTOFACIONASAL DYSOSTOSIS 2 HP:0000248 Brachycephaly TAS TAS MIM:239710 HPO:probinson 01.05.2012
MIM:239710 ACROFRONTOFACIONASAL DYSOSTOSIS 2 HP:0000252 Microcephaly TAS TAS MIM:239710 HPO:probinson 01.05.2012
+OMIM:239710 239710 ACROFRONTOFACIONASAL DYSOSTOSIS 2;;AFFN DYSOSTOSIS 2; AFFND2;;ACROFRONTOFACIONASAL DYSOSTOSIS WITH GENITOURINARY ANOMALIES;;NAGUIB-RICHIERI-COSTA SYNDROME;;HYPERTELORISM, HYPOSPADIAS, AND POLYSYNDACTYLY SYNDROME HP:0005989 Redundant neck skin IEA IEA OMIM-CS:HEAD AND NECK_NECK > REDUNDANT NUCHAL SKIN OMIM:239710 HPO:skoehler 20.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-256720.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-256720.tab 2015-01-19 19:40:36 UTC (rev 5252)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-256720.tab 2015-01-20 11:05:07 UTC (rev 5253)
@@ -9,3 +9,4 @@
OMIM:256720 NEUROLOGIC DISEASE, INFANTILE MULTISYSTEM, WITH OSSEOUS FRAGILITY HP:0003202 Amyotrophy IEA IEA OMIM:256720 HPO 17.02.2009
OMIM:256720 NEUROLOGIC DISEASE, INFANTILE MULTISYSTEM, WITH OSSEOUS FRAGILITY HP:0006887 Intellectual disability, progressive IEA IEA OMIM:256720 HPO 17.02.2009
OMIM:256720 256720 NEUROLOGIC DISEASE, INFANTILE MULTISYSTEM, WITH OSSEOUS FRAGILITY HP:0010864 Intellectual disability, severe IEA IEA OMIM-CS:NEURO > SEVERE MENTAL RETARDATION OMIM:256720 HPO:skoehler 17.10.2012
+OMIM:256720 256720 NEUROLOGIC DISEASE, INFANTILE MULTISYSTEM, WITH OSSEOUS FRAGILITY HP:0030043 Hip Subluxation IEA IEA OMIM-CS:SKEL > HIP SUBLUXATION OMIM:256720 HPO:skoehler 20.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-256800.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-256800.tab 2015-01-19 19:40:36 UTC (rev 5252)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-256800.tab 2015-01-20 11:05:07 UTC (rev 5253)
@@ -23,3 +23,4 @@
OMIM:256800 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS HP:0007249 Decreased number of small peripheral myelinated nerve fibers IEA IEA OMIM:256800 HPO 17.02.2009
OMIM:256800 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS HP:0007759 Opacification of the corneal stroma IEA IEA OMIM:256800 HPO 17.02.2009
OMIM:256800 #256800 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA;;NEUROPATHY, CONGENITAL SENSORY, WITH ANHIDROSIS;;HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY IV; HSAN4;;HSAN IV;;FAMILIAL DYSAUTONOMIA, TYPE II HP:0008404 Nail dystrophy IEA IEA OMIM-CS:SKIN, NAILS, HAIR_NAILS > DYSTROPHIC NAILS OMIM:256800 HPO:skoehler 03.05.2013
+OMIM:256800 #256800 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA;;NEUROPATHY, CONGENITAL SENSORY, WITH ANHIDROSIS;;HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY IV; HSAN4;;HSAN IV;;FAMILIAL DYSAUTONOMIA, TYPE II HP:0012804 Corneal ulceration IEA IEA OMIM-CS:HEAD AND NECK_EYES > CORNEAL ULCERATION OMIM:256800 HPO:skoehler 20.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-268305.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-268305.tab 2015-01-19 19:40:36 UTC (rev 5252)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-268305.tab 2015-01-20 11:05:07 UTC (rev 5253)
@@ -31,3 +31,4 @@
OMIM:268305 #268305 ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES;;RICHIERI-COSTA-PEREIRA SYNDROME; RCPS HP:0011968 Feeding difficulties IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > FEEDING DIFFICULTIES OMIM:268305 HPO:skoehler 13.04.2014
OMIM:268305 #268305 ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES;;RICHIERI-COSTA-PEREIRA SYNDROME; RCPS HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DEVELOPMENTAL DELAY OMIM:268305 HPO:skoehler 13.04.2014
OMIM:268305 #268305 ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES;;RICHIERI-COSTA-PEREIRA SYNDROME; RCPS HP:0100499 Tibial deviation of toes IEA IEA OMIM-CS:SKELETAL_FEET > TIBIAL DEVIATION OF TOES OMIM:268305 HPO:skoehler 13.04.2014
+OMIM:268305 #268305 ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES;;RICHIERI-COSTA-PEREIRA SYNDROME; RCPS HP:0030043 Hip Subluxation IEA IEA rare OMIM-CS:SKELETAL_PELVIS > HIP SUBLUXATION (RARE) OMIM:268305 HPO:skoehler 20.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-270400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-270400.tab 2015-01-19 19:40:36 UTC (rev 5252)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-270400.tab 2015-01-20 11:05:07 UTC (rev 5253)
@@ -93,3 +93,4 @@
OMIM:270400 #270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS;;SLO SYNDROME;;RSH SYNDROME;;RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME;;POLYDACTYLY, SEX REVERSAL, RENAL HYPOPLASIA, AND UNILOBAR LUNG;;LETHAL ACRODYSGENITAL SYNDROME HP:0000996 Facial capillary hemangioma IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > FACIAL CAPILLARY HEMANGIOMA OMIM:270400 HPO:skoehler Oct 17, 2012
MIM:270400 SMITH-LEMLI-OPITZ SYNDROME MIM:602858 7-@DEHYDROCHOLESTEROL REDUCTASE MIM602858 / MIM602858 DHCR7 HP:0010569 Elevated 7-dehydrocholesterol PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=slo HPO:probinson Aug 11, 2013
OMIM:270400 #270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS;;SLO SYNDROME;;RSH SYNDROME;;RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME;;POLYDACTYLY, SEX REVERSAL, RENAL HYPOPLASIA, AND UNILOBAR LUNG;;LETHAL ACRODYSGENITAL SYNDROME HP:0005280 Depressed nasal bridge TAS TAS OMIM:270400 HPO:skoehler Aug 11, 2013
+OMIM:270400 #270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS;;SLO SYNDROME;;RSH SYNDROME;;RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME;;POLYDACTYLY, SEX REVERSAL, RENAL HYPOPLASIA, AND UNILOBAR LUNG;;LETHAL ACRODYSGENITAL SYNDROME HP:0030043 Hip Subluxation IEA IEA OMIM-CS:SKELETAL_PELVIS > HIP SUBLUXATION OMIM:270400 HPO:skoehler 20.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-271640.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-271640.tab 2015-01-19 19:40:36 UTC (rev 5252)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-271640.tab 2015-01-20 11:05:07 UTC (rev 5253)
@@ -65,3 +65,4 @@
OMIM:271640 #271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH ORWITHOUT FRACTURES; SEMDJL1;;SEMDJL HP:0002209 Sparse scalp hair IEA IEA OMIM-CS:SKIN, NAILS, HAIR_HAIR > SPARSE SCALP HAIR OMIM:271640 HPO:skoehler 18.08.2013
OMIM:271640 #271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH ORWITHOUT FRACTURES; SEMDJL1;;SEMDJL HP:0001030 Fragile skin IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > SKIN FRAGILITY OMIM:271640 HPO:skoehler 18.08.2013
OMIM:271640 #271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH ORWITHOUT FRACTURES; SEMDJL1;;SEMDJL HP:0002756 Pathologic fracture IEA IEA OMIM-CS:SKELETAL > SPONTANEOUS FRACTURES OMIM:271640 HPO:skoehler 06.10.2013
+OMIM:271640 #271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH ORWITHOUT FRACTURES; SEMDJL1;;SEMDJL HP:0030043 Hip Subluxation IEA IEA OMIM-CS:SKELETAL_PELVIS > HIP SUBLUXATION OMIM:271640 HPO:skoehler 20.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-271665.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-271665.tab 2015-01-19 19:40:36 UTC (rev 5252)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-271665.tab 2015-01-20 11:05:07 UTC (rev 5253)
@@ -49,3 +49,4 @@
OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0009803 Short phalanx of finger TAS TAS OMIM:271665 HPO:probinson Jun 3, 2012
OMIM:271665 #271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE;;SMED-SL;;SMED, SHORT LIMB-HAND TYPE;;SMED, TYPE II;;SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-ABNORMAL CALCIFICATIONTYPE;;SMED, SHORT LIMB-ABNORMAL CALCIFICATION TYPE;;SMED-SL/AC HP:0005753 Limb shortening TAS TAS OMIM:271665 HPO:skoehler Oct 17, 2012
OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0006009 Broad phalanx TAS TAS OMIM:271665 HPO:probinson Apr 7, 2013
+OMIM:271665 #271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE;;SMED-SL;;SMED, SHORT LIMB-HAND TYPE;;SMED, TYPE II;;SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-ABNORMAL CALCIFICATIONTYPE;;SMED, SHORT LIMB-ABNORMAL CALCIFICATION TYPE;;SMED-SL/AC HP:0030043 Hip Subluxation IEA IEA OMIM-CS:SKELETAL_PELVIS > HIP SUBLUXATION OMIM:271665 HPO:skoehler 20.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300354.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300354.tab 2015-01-19 19:40:36 UTC (rev 5252)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300354.tab 2015-01-20 11:05:07 UTC (rev 5253)
@@ -27,3 +27,4 @@
OMIM:300354 #300354 MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, ANDABNORMAL GAIT;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 15; MRXS15;;CABEZAS X-LINKED MENTAL RETARDATION SYNDROME; MRXSC;;CABEZAS SYNDROME HP:0001249 Intellectual disability IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION OMIM:300354 HPO:skoehler 17.10.2012
OMIM:300354 #300354 MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, ANDABNORMAL GAIT;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 15; MRXS15;;CABEZAS X-LINKED MENTAL RETARDATION SYNDROME; MRXSC;;CABEZAS SYNDROME HP:0001763 Pes planus IEA IEA OMIM-CS:SKELETAL_FEET > PES PLANUS OMIM:300354 HPO:skoehler 17.10.2012
OMIM:300354 #300354 MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, ANDABNORMAL GAIT;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 15; MRXS15;;CABEZAS X-LINKED MENTAL RETARDATION SYNDROME; MRXSC;;CABEZAS SYNDROME HP:0001156 Brachydactyly syndrome IEA IEA rare OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY (IN 1 FAMILY) OMIM:300354 HPO:skoehler 26.11.2014
+OMIM:300354 #300354 MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, ANDABNORMAL GAIT;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 15; MRXS15;;CABEZAS X-LINKED MENTAL RETARDATION SYNDROME; MRXSC;;CABEZAS SYNDROME HP:0012743 Abdominal obesity IEA IEA OMIM-CS:GROWTH_WEIGHT > CENTRAL OBESITY OMIM:300354 HPO:skoehler 20.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601650.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601650.tab 2015-01-19 19:40:36 UTC (rev 5252)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601650.tab 2015-01-20 11:05:07 UTC (rev 5253)
@@ -11,3 +11,4 @@
OMIM:601650 PARAGANGLIOMAS 2 HP:0003008 Multiple neoplasia IEA IEA OMIM:601650 HPO 17.02.2009
OMIM:601650 PARAGANGLIOMAS 2 HP:0003581 Adult onset IEA IEA OMIM:601650 HPO 17.02.2009
OMIM:601650 PARAGANGLIOMAS 2 HP:0006715 Glomus tympanicum paraganglioma IEA IEA OMIM:601650 HPO 17.02.2009
+OMIM:601650 #601650 PARAGANGLIOMAS 2; PGL2;;GLOMUS TUMORS, FAMILIAL, 2 HP:0030074 Chemodectoma IEA IEA OMIM-CS:NEOPLASIA > CHEMODECTOMAS OMIM:601650 HPO:skoehler 20.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604121.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604121.tab 2015-01-19 19:40:36 UTC (rev 5252)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604121.tab 2015-01-20 11:05:07 UTC (rev 5253)
@@ -13,3 +13,4 @@
OMIM:604121 #604121 CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT; ADCADN HP:0002476 Primitive reflexes (palmomental, snout, glabellar) IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PRIMITIVE REFLEXES OMIM:604121 HPO:skoehler 17.07.2013
OMIM:604121 #604121 CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT; ADCADN HP:0001257 Spasticity IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SPASTICITY OMIM:604121 HPO:skoehler 17.07.2013
OMIM:604121 #604121 CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT; ADCADN HP:0002524 Cataplexy IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > NARCOLEPSY OMIM:604121 HPO:skoehler 18.11.2013
+OMIM:604121 #604121 CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT; ADCADN HP:0030050 Narcolepsy IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > NARCOLEPSY OMIM:604121 HPO:skoehler 20.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604314.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604314.tab 2015-01-19 19:40:36 UTC (rev 5252)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604314.tab 2015-01-20 11:05:07 UTC (rev 5253)
@@ -33,3 +33,4 @@
OMIM:604314 BLEPHAROPHIMOSIS WITH FACIAL AND GENITAL ANOMALIES AND MENTAL RETARDATION HP:0000343 Long philtrum TAS TAS OMIM:604314 HPO:probinson 01.05.2012
OMIM:604314 %604314 BLEPHAROPHIMOSIS WITH FACIAL AND GENITAL ANOMALIES AND MENTAL RETARDATION;;BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, VERLOES TYPE HP:0000189 Narrow palate IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > NARROW PALATE OMIM:604314 HPO:skoehler 18.08.2013
OMIM:604314 %604314 BLEPHAROPHIMOSIS WITH FACIAL AND GENITAL ANOMALIES AND MENTAL RETARDATION;;BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, VERLOES TYPE HP:0011800 Midface retrusion IEA IEA OMIM-CS:HEAD AND NECK_FACE > MIDFACE HYPOPLASIA OMIM:604314 HPO:skoehler 28.11.2013
+OMIM:604314 %604314 BLEPHAROPHIMOSIS WITH FACIAL AND GENITAL ANOMALIES AND MENTAL RETARDATION;;BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, VERLOES TYPE HP:0005989 Redundant neck skin IEA IEA OMIM-CS:HEAD AND NECK_NECK > REDUNDANT NUCHAL SKIN OMIM:604314 HPO:skoehler 20.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-605373.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-605373.tab 2015-01-19 19:40:36 UTC (rev 5252)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-605373.tab 2015-01-20 11:05:07 UTC (rev 5253)
@@ -21,3 +21,4 @@
OMIM:605373 PARAGANGLIOMAS 3 HP:0003581 Adult onset TAS TAS OMIM:605373 HPO:skoehler Feb 17, 2009
OMIM:605373 PARAGANGLIOMAS 3 HP:0006737 Extraadrenal pheochromocytoma IEA IEA OMIM:605373 HPO Feb 17, 2009
OMIM:605373 PARAGANGLIOMAS 3 HP:0006748 Adrenal pheochromocytoma IEA IEA OMIM:605373 HPO Feb 17, 2009
+OMIM:605373 #605373 PARAGANGLIOMAS 3; PGL3;;GLOMUS TUMORS, FAMILIAL, 3 HP:0030074 Chemodectoma IEA IEA OMIM-CS:NEOPLASIA > CHEMODECTOMAS OMIM:605373 HPO:skoehler 20.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607625.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607625.tab 2015-01-19 19:40:36 UTC (rev 5252)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607625.tab 2015-01-20 11:05:07 UTC (rev 5253)
@@ -29,3 +29,4 @@
OMIM:607625 NIEMANN-PICK DISEASE, TYPE C2 HP:0004333 Bone-marrow foam cells IEA IEA OMIM:607625 HPO Feb 17, 2009
OMIM:607625 NIEMANN-PICK DISEASE, TYPE C2 HP:0006579 Prolonged neonatal jaundice IEA IEA OMIM:607625 HPO Feb 17, 2009
OMIM:607625 #607625 NIEMANN-PICK DISEASE, TYPE C2; NPC2 HP:0002878 Respiratory failure IEA IEA OMIM-CS:RESPIRATORY_LUNG > RESPIRATORY FAILURE OMIM:607625 HPO:skoehler 24.06.2014
+OMIM:607625 #607625 NIEMANN-PICK DISEASE, TYPE C2; NPC2 HP:0030223 Perseveration IEA IEA OMIM-CS:NEUROLOGIC_BEHAVIORAL/PSYCHIATRIC MANIFESTATIONS > PERSEVERATIVE BEHAVIOR OMIM:607625 HPO:skoehler 20.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608161.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608161.tab 2015-01-19 19:40:36 UTC (rev 5252)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608161.tab 2015-01-20 11:05:07 UTC (rev 5253)
@@ -2,3 +2,6 @@
OMIM:608161 #608161 MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSET;;AVMD;;VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET;;FOVEOMACULAR DYSTROPHY, ADULT-ONSET; AOFMD;;FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH CHOROIDAL NEOVASCULARIZATION HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:608161 HPO:probinson Jan 9, 2013
OMIM:608161 #608161 MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSET;;AVMD;;VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET;;FOVEOMACULAR DYSTROPHY, ADULT-ONSET; AOFMD;;FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH CHOROIDAL NEOVASCULARIZATION HP:0000505 Visual impairment HP:0003581 Adult onset TAS TAS OMIM:608161 HPO:probinson Feb 23, 2013
OMIM:608161 #608161 MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSET;;AVMD;;VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET;;FOVEOMACULAR DYSTROPHY, ADULT-ONSET; AOFMD;;FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH CHOROIDAL NEOVASCULARIZATION HP:0007677 Vitelliform maculopathy TAS TAS OMIM:608161 HPO:probinson Feb 23, 2013
+OMIM:608161 #608161 MACULAR DYSTROPHY, VITELLIFORM, 3; VMD3;;VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET; AVMD;;FOVEOMACULAR DYSTROPHY, ADULT-ONSET; AOFMD;;FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH OR WITHOUT CHOROIDAL NEOVASCULARIZATION HP:0012508 Metamorphopsia IEA IEA OMIM-CS:HEAD AND NECK_EYES > METAMORPHOPSIA OMIM:608161 HPO:skoehler 20.01.2015
+OMIM:608161 #608161 MACULAR DYSTROPHY, VITELLIFORM, 3; VMD3;;VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET; AVMD;;FOVEOMACULAR DYSTROPHY, ADULT-ONSET; AOFMD;;FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH OR WITHOUT CHOROIDAL NEOVASCULARIZATION HP:0000551 Abnormality of color vision IEA IEA NOT NOT OMIM-CS:HEAD AND NECK_EYES > NORMAL COLOR VISION OMIM:608161 HPO:skoehler 20.01.2015
+OMIM:608161 #608161 MACULAR DYSTROPHY, VITELLIFORM, 3; VMD3;;VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET; AVMD;;FOVEOMACULAR DYSTROPHY, ADULT-ONSET; AOFMD;;FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH OR WITHOUT CHOROIDAL NEOVASCULARIZATION HP:0000613 Photophobia IEA IEA OMIM-CS:HEAD AND NECK_EYES > PHOTOPHOBIA OMIM:608161 HPO:skoehler 20.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610293.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610293.tab 2015-01-19 19:40:36 UTC (rev 5252)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610293.tab 2015-01-20 11:05:07 UTC (rev 5253)
@@ -5,3 +5,4 @@
OMIM:610293 GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY HP:0001744 Splenomegaly IEA IEA OMIM:610293 HPO:skoehler 19.06.2010
OMIM:610293 GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY HP:0002240 Hepatomegaly IEA IEA OMIM:610293 HPO:skoehler 19.06.2010
OMIM:610293 GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY HP:0004936 Venous thrombosis IEA IEA OMIM:610293 HPO:skoehler 19.06.2010
+OMIM:610293 #610293 GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY;;GPI DEFICIENCY HP:0030242 Portal vein thrombosis IEA IEA OMIM-CS:ABDOMEN_LIVER > PORTAL VEIN THROMBOSIS OMIM:610293 HPO:skoehler 20.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612069.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612069.tab 2015-01-19 19:40:36 UTC (rev 5252)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612069.tab 2015-01-20 11:05:07 UTC (rev 5253)
@@ -13,3 +13,4 @@
OMIM:612069 #612069 AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA;ALS10FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED,INCLUDED;;FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED, INCLUDED;;FTLD-TDP, TARDBP-RELATED, INCLUDED HP:0001257 Spasticity IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SPASTICITY OMIM:612069 HPO:skoehler 17.10.2012
OMIM:612069 #612069 AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA;ALS10FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED,INCLUDED;;FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED, INCLUDED;;FTLD-TDP, TARDBP-RELATED, INCLUDED HP:0002747 Respiratory insufficiency due to muscle weakness IEA IEA OMIM-CS:RESPIRATORY > RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS OMIM:612069 HPO:skoehler 17.10.2012
OMIM:612069 #612069 AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA;ALS10FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED,INCLUDED;;FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED, INCLUDED;;FTLD-TDP, TARDBP-RELATED, INCLUDED HP:0007354 Amyotrophic lateral sclerosis IEA IEA Disease name contained:#612069 amyotrophic lateral sclerosis 10, with OMIM:612069 HPO:skoehler 19.01.2015
+OMIM:612069 #612069 AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA;ALS10FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED,INCLUDED;;FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED, INCLUDED;;FTLD-TDP, TARDBP-RELATED, INCLUDED HP:0030223 Perseveration IEA IEA OMIM-CS:NEUROLOGIC_BEHAVIORAL/PSYCHIATRIC MANIFESTATIONS > PERSEVERATIVE BEHAVIOR OMIM:612069 HPO:skoehler 20.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614250.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614250.tab 2015-01-19 19:40:36 UTC (rev 5252)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614250.tab 2015-01-20 11:05:07 UTC (rev 5253)
@@ -3,3 +3,4 @@
OMIM:614250 #614250 NARCOLEPSY 7; NRCLP7 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT OMIM:614250 HPO:skoehler 17.10.2012
OMIM:614250 #614250 NARCOLEPSY 7; NRCLP7 HP:0002524 Cataplexy IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CATAPLEXY OMIM:614250 HPO:skoehler 17.10.2012
OMIM:614250 #614250 NARCOLEPSY 7; NRCLP7 HP:0002189 Excessive daytime sleepiness IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > EXCESSIVE DAYTIME SLEEPINESS OMIM:614250 HPO:skoehler 17.10.2012
+OMIM:614250 #614250 NARCOLEPSY 7; NRCLP7 HP:0030050 Narcolepsy IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > NARCOLEPSY OMIM:614250 HPO:skoehler 20.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614602.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614602.tab 2015-01-19 19:40:36 UTC (rev 5252)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614602.tab 2015-01-20 11:05:07 UTC (rev 5253)
@@ -19,3 +19,4 @@
OMIM:614602 #614602 TRICHOHEPATOENTERIC SYNDROME 2; THES2 HP:0012115 Hepatitis IEA IEA OMIM-CS:ABDOMEN_LIVER > HEPATITIS, CHRONIC, NONSPECIFIC OMIM:614602 HPO:skoehler 22.01.2013
OMIM:614602 #614602 TRICHOHEPATOENTERIC SYNDROME 2; THES2 HP:0000445 Wide nose IEA IEA OMIM-CS:HEAD AND NECK_NOSE > FLAT, BROAD NOSE OMIM:614602 HPO:skoehler 22.01.2013
OMIM:614602 #614602 TRICHOHEPATOENTERIC SYNDROME 2; THES2 HP:0008070 Sparse hair IEA IEA OMIM-CS:SKIN, NAILS, HAIR_HAIR > THIN, SPARSE HAIR OMIM:614602 HPO:skoehler 22.01.2013
+OMIM:614602 #614602 TRICHOHEPATOENTERIC SYNDROME 2; THES2 HP:0030056 Uncombable hair IEA IEA OMIM-CS:SKIN, NAILS, HAIR_HAIR > UNCOMBABLE HAIR OMIM:614602 HPO:skoehler 20.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615954.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615954.tab 2015-01-19 19:40:36 UTC (rev 5252)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615954.tab 2015-01-20 11:05:07 UTC (rev 5253)
@@ -4,3 +4,4 @@
OMIM:615954 #615954 ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2; AIMAH2;;PRIMARY MACRONODULAR ADRENAL HYPERPLASIA HP:0000311 Round face IEA IEA OMIM-CS:HEAD AND NECK_FACE > ROUND FACE OMIM:615954 HPO:skoehler 26.11.2014
OMIM:615954 #615954 ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2; AIMAH2;;PRIMARY MACRONODULAR ADRENAL HYPERPLASIA HP:0003074 Hyperglycemia IEA IEA OMIM-CS:LABORATORY ABNORMALITIES > HYPERGLYCEMIA OMIM:615954 HPO:skoehler 26.11.2014
OMIM:615954 #615954 ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2; AIMAH2;;PRIMARY MACRONODULAR ADRENAL HYPERPLASIA HP:0000939 Osteoporosis IEA IEA OMIM-CS:SKELETAL > OSTEOPOROSIS OMIM:615954 HPO:skoehler 26.11.2014
+OMIM:615954 #615954 ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2; AIMAH2;;PRIMARY MACRONODULAR ADRENAL HYPERPLASIA HP:0012743 Abdominal obesity IEA IEA rare OMIM-CS:GROWTH_WEIGHT > CENTRAL OBESITY (IN SOME PATIENTS) OMIM:615954 HPO:skoehler 20.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616028.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616028.tab 2015-01-19 19:40:36 UTC (rev 5252)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616028.tab 2015-01-20 11:05:07 UTC (rev 5253)
@@ -14,3 +14,4 @@
OMIM:616028 #616028 ADAMS-OLIVER SYNDROME 5; AOS5 HP:0001048 Cavernous hemangioma IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > CAVERNOUS HEMANGIOMA OMIM:616028 HPO:skoehler 06.10.2014
OMIM:616028 #616028 ADAMS-OLIVER SYNDROME 5; AOS5 HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_FEET > BRACHYDACTYLY OMIM:616028 HPO:skoehler 26.11.2014
OMIM:616028 #616028 ADAMS-OLIVER SYNDROME 5; AOS5 HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY OMIM:616028 HPO:skoehler 26.11.2014
+OMIM:616028 #616028 ADAMS-OLIVER SYNDROME 5; AOS5 HP:0030242 Portal vein thrombosis IEA IEA rare OMIM-CS:CARDIOVASCULAR_VASCULAR > PORTAL VEIN THROMBOSIS (RARE) OMIM:616028 HPO:skoehler 20.01.2015
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <koe...@us...> - 2015-01-19 19:41:03
|
Revision: 5252
http://sourceforge.net/p/obo/svn/5252
Author: koehlers
Date: 2015-01-19 19:40:36 +0000 (Mon, 19 Jan 2015)
Log Message:
-----------
adding headers
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-208158.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-269160.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300909.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602484.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607131.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615236.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-208158.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-208158.tab 2015-01-19 17:34:45 UTC (rev 5251)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-208158.tab 2015-01-19 19:40:36 UTC (rev 5252)
@@ -1 +1,2 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset 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:208158 ARTHROGRYPOSIS - HYPERKERATOSIS, LETHAL FORM HP:0002804 Arthrogryposis multiplex congenita IEA IEA Disease name contained:arthrogryposis - hyperke OMIM:208158 HPO:skoehler 19.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-269160.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-269160.tab 2015-01-19 17:34:45 UTC (rev 5251)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-269160.tab 2015-01-19 19:40:36 UTC (rev 5252)
@@ -1 +1,2 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset 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:269160 SCHIZENCEPHALY HP:0010636 Schizencephaly IEA IEA Disease name contained:schizencephalyhttp://www OMIM:269160 HPO:skoehler 19.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300909.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300909.tab 2015-01-19 17:34:45 UTC (rev 5251)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300909.tab 2015-01-19 19:40:36 UTC (rev 5252)
@@ -1 +1,2 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset 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:300909 ACQUIRED ANGIOEDEMA HP:0100665 Angioedema IEA IEA Disease name contained:acquired angioedemaaae|acquir OMIM:300909 HPO:skoehler 19.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602484.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602484.tab 2015-01-19 17:34:45 UTC (rev 5251)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602484.tab 2015-01-19 19:40:36 UTC (rev 5252)
@@ -1 +1,2 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset 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:602484 PELVIC DYSPLASIA - ARTHROGRYPOSIS OF LOWER LIMBS HP:0002804 Arthrogryposis multiplex congenita IEA IEA Disease name contained:splasia - arthrogryposis of lower OMIM:602484 HPO:skoehler 19.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607131.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607131.tab 2015-01-19 17:34:45 UTC (rev 5251)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607131.tab 2015-01-19 19:40:36 UTC (rev 5252)
@@ -1 +1,2 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset 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:607131 MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE HP:0001999 Abnormal facial shape IEA IEA Disease name contained:cephaly - distinctive facies|http://ww OMIM:607131 HPO:skoehler 19.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615236.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615236.tab 2015-01-19 17:34:45 UTC (rev 5251)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615236.tab 2015-01-19 19:40:36 UTC (rev 5252)
@@ -1 +1,2 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset 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:615236 MICROCEPHALY - INTELLECTUAL DISABILITY - PHALANGEAL AND NEUROLOGICAL ANOMALIES HP:0001249 Intellectual disability IEA IEA Disease name contained:cephaly - intellectual disability - phalang OMIM:615236 HPO:skoehler 19.01.2015
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
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From: <koe...@us...> - 2015-01-19 17:34:54
|
Revision: 5251
http://sourceforge.net/p/obo/svn/5251
Author: koehlers
Date: 2015-01-19 17:34:45 +0000 (Mon, 19 Jan 2015)
Log Message:
-----------
manually entered annotation updates... pheww
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-103470.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-105400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-106100.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108145.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108200.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-112500.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-113310.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-114300.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-117360.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-121070.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-121800.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-121820.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-122000.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-123500.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-129200.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-134780.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-139750.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-158300.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-159556.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-159557.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-159558.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-167320.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-177735.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-178110.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-186860.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-186960.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-187040.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-187370.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-193050.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-193700.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-200990.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-201550.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-201910.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-202110.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-208150.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-215250.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-217600.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-218700.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-220500.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-221950.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-225250.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-228560.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-242670.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-242680.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-244400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-253900.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-254090.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-258501.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-260660.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-268200.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-275200.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300158.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300471.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300476.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300607.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300672.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300770.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300778.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300779.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300845.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-302060.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-304020.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-304340.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-308350.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600850.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600977.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601553.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601680.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602082.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602541.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603649.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604393.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604772.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-605282.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-605419.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-605549.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606242.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606369.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606392.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606763.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606889.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607208.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607341.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607483.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608030.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608194.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608227.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608432.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608484.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608627.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608644.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608840.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608980.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609304.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609636.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609734.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610042.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610158.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610283.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610508.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610852.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610910.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611884.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611890.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611895.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611938.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612069.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612292.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612422.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612444.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612463.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612518.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612649.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612867.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612868.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613075.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613151.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613152.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613155.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613156.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613193.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613194.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613204.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613205.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613328.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613370.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613375.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613382.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613385.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613402.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613428.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613435.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613464.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613477.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613581.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613582.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613617.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613627.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613660.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613680.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613690.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613720.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613721.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613722.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613743.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613750.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613758.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613769.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613794.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613807.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613808.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613809.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613810.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613827.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613843.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613861.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613862.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613873.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613874.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613876.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613954.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613983.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614017.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614021.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614039.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614104.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614180.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614181.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614192.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614326.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614335.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614340.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614373.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614491.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614492.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614494.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614495.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614496.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614500.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614501.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614676.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614684.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614696.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614749.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614874.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614916.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614935.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614959.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615006.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615023.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615024.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615065.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615072.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615163.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615233.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615282.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615294.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615330.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615351.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615374.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615411.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615412.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615434.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615441.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615444.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615451.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615476.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615481.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615482.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615500.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615504.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615505.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615515.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615523.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615637.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615709.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615716.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615725.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615761.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615763.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615780.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615802.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615812.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615817.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615860.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615872.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615873.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615911.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615922.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615942.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615973.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615979.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615980.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616025.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616037.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616078.tab
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-208158.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-269160.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300909.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602484.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607131.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615236.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-103470.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-103470.tab 2015-01-19 16:22:33 UTC (rev 5250)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-103470.tab 2015-01-19 17:34:45 UTC (rev 5251)
@@ -13,3 +13,4 @@
OMIM:103470 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS HP:0005592 Giant melanosomes in melanocytes TAS TAS OMIM:103470 HPO:probinson Jul 25, 2012
OMIM:103470 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS HP:0001417 X-linked inheritance IEA IEA OMIM:103470 HPO:skoehler Oct 11, 2012
OMIM:103470 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:103470 HPO:skoehler Oct 11, 2012
+OMIM:103470 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS HP:0001022 Albinism IEA IEA Disease name contained:albinism, ocular, OMIM:103470 HPO:skoehler 19.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-105400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-105400.tab 2015-01-19 16:22:33 UTC (rev 5250)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-105400.tab 2015-01-19 17:34:45 UTC (rev 5251)
@@ -14,3 +14,4 @@
MIM:105400 AMYOTROPHIC LATERAL SCLEROSIS 1 HP:0000007 Autosomal recessive inheritance IEA IEA MIM:105400 HPO:skoehler Oct 12, 2012
MIM:105400 AMYOTROPHIC LATERAL SCLEROSIS 1 HP:0001425 Heterogeneous IEA IEA MIM:105400 HPO:skoehler Oct 12, 2012
MIM:105400 AMYOTROPHIC LATERAL SCLEROSIS 1 HP:0010535 Sleep apnea IEA IEA MIM:105400 HPO:skoehler Oct 12, 2012
+OMIM:105400 AMYOTROPHIC LATERAL SCLEROSIS 1 HP:0007354 Amyotrophic lateral sclerosis IEA IEA Disease name contained:amyotrophic lateral sclerosis 1 OMIM:105400 HPO:skoehler 19.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-106100.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-106100.tab 2015-01-19 16:22:33 UTC (rev 5250)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-106100.tab 2015-01-19 17:34:45 UTC (rev 5251)
@@ -10,3 +10,4 @@
OMIM:106100 ANGIOEDEMA, HEREDITARY HP:0010783 Erythema IEA IEA OMIM:106100 HPO:skoehler 20.06.2010
OMIM:106100 ANGIOEDEMA, HEREDITARY HP:0011855 Pharyngeal edema TAS TAS OMIM:106100 HPO:probinson 21.07.2012
OMIM:106100 ANGIOEDEMA, HEREDITARY HP:0012027 Laryngeal edema TAS TAS OMIM:106100 HPO:probinson 26.07.2012
+OMIM:106100 ANGIOEDEMA, HEREDITARY HP:0100665 Angioedema IEA IEA Disease name contained:angioedema, heredita OMIM:106100 HPO:skoehler 19.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108145.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108145.tab 2015-01-19 16:22:33 UTC (rev 5250)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108145.tab 2015-01-19 17:34:45 UTC (rev 5251)
@@ -33,3 +33,4 @@
OMIM:108145 #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB HP:0002650 Scoliosis IEA IEA rare OMIM-CS:SKELETAL_SPINE > SCOLIOSIS (RARE) OMIM:108145 HPO:skoehler 06.02.2014
OMIM:108145 #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB HP:0030084 Clinodactyly IEA IEA OMIM-CS:SKELETAL_HANDS > CLINODACTYLY OMIM:108145 HPO:skoehler 21.09.2014
OMIM:108145 #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB HP:0001249 Intellectual disability IEA IEA NOT NOT OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > NORMAL INTELLIGENCE OMIM:108145 HPO:skoehler 26.11.2014
+OMIM:108145 #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB HP:0002804 Arthrogryposis multiplex congenita IEA IEA Disease name contained:#108145 arthrogryposis, distal, OMIM:108145 HPO:skoehler 19.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108200.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108200.tab 2015-01-19 16:22:33 UTC (rev 5250)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108200.tab 2015-01-19 17:34:45 UTC (rev 5251)
@@ -2,3 +2,4 @@
OMIM:108200 ARTHROGRYPOSIS-LIKE HAND ANOMALY AND SENSORINEURAL DEAFNESS HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:108200 HPO Feb 17, 2009
OMIM:108200 ARTHROGRYPOSIS-LIKE HAND ANOMALY AND SENSORINEURAL DEAFNESS HP:0000407 Sensorineural hearing impairment IEA IEA OMIM:108200 HPO Feb 17, 2009
OMIM:108200 ARTHROGRYPOSIS-LIKE HAND ANOMALY AND SENSORINEURAL DEAFNESS HP:0005612 Arthrogryposis-like hand anomaly IEA IEA OMIM:108200 HPO Feb 17, 2009
+OMIM:108200 ARTHROGRYPOSIS-LIKE HAND ANOMALY AND SENSORINEURAL DEAFNESS HP:0002804 Arthrogryposis multiplex congenita IEA IEA Disease name contained:arthrogryposis-like hand OMIM:108200 HPO:skoehler 19.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-112500.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-112500.tab 2015-01-19 16:22:33 UTC (rev 5250)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-112500.tab 2015-01-19 17:34:45 UTC (rev 5251)
@@ -22,3 +22,4 @@
OMIM:112500 #112500 BRACHYDACTYLY, TYPE A1; BDA1;;FARABEE-TYPE BRACHYDACTYLY HP:0006146 Broad metacarpal epiphyses TAS TAS OMIM:112500 HPO:skoehler Apr 14, 2013
OMIM:112500 #112500 BRACHYDACTYLY, TYPE A1; BDA1;;FARABEE-TYPE BRACHYDACTYLY HP:0006236 Slender metacarpals TAS TAS OMIM:112500 HPO:skoehler Apr 14, 2013
OMIM:112500 #112500 BRACHYDACTYLY, TYPE A1; BDA1;;FARABEE-TYPE BRACHYDACTYLY HP:0001425 Heterogeneous IEA IEA OMIM-CS:MISCELLANEOUS > GENETIC HETEROGENEITY OMIM:112500 HPO:skoehler 18.04.2013
+OMIM:112500 #112500 BRACHYDACTYLY, TYPE A1; BDA1;;FARABEE-TYPE BRACHYDACTYLY HP:0001156 Brachydactyly syndrome IEA IEA Disease name contained:#112500 brachydactyly, type a1; OMIM:112500 HPO:skoehler 19.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-113310.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-113310.tab 2015-01-19 16:22:33 UTC (rev 5250)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-113310.tab 2015-01-19 17:34:45 UTC (rev 5251)
@@ -3,3 +3,4 @@
OMIM:113310 BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA HP:0002990 Fibular aplasia TAS TAS OMIM:113310 HPO:probinson Feb 17, 2009
OMIM:113310 BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA HP:0006492 Aplasia/Hypoplasia of the fibula IEA IEA OMIM:113310 HPO:skoehler Jun 18, 2010
OMIM:113310 BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA HP:0009803 Short phalanx of finger IEA IEA OMIM:113310 HPO:probinson Feb 17, 2009
+OMIM:113310 BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA HP:0001156 Brachydactyly syndrome IEA IEA Disease name contained:brachydactyly-ectrodact OMIM:113310 HPO:skoehler 19.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-114300.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-114300.tab 2015-01-19 16:22:33 UTC (rev 5250)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-114300.tab 2015-01-19 17:34:45 UTC (rev 5251)
@@ -29,3 +29,4 @@
OMIM:114300 #114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3;;GORDON SYNDROME;;ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA;;CAMPTODACTYLY, CLEFT PALATE, AND CLUBFOOT HP:0000218 High palate IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > HIGH-ARCHED PALATE OMIM:114300 HPO:skoehler 03.08.2014
OMIM:114300 #114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3;;GORDON SYNDROME;;ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA;;CAMPTODACTYLY, CLEFT PALATE, AND CLUBFOOT HP:0001845 Overlapping toe IEA IEA OMIM-CS:SKELETAL_FEET > OVERLAPPING TOES OMIM:114300 HPO:skoehler 03.08.2014
OMIM:114300 #114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3;;GORDON SYNDROME;;ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA;;CAMPTODACTYLY, CLEFT PALATE, AND CLUBFOOT HP:0002944 Thoracolumbar scoliosis IEA IEA OMIM-CS:SKELETAL_SPINE > THORACOLUMBAR SCOLIOSIS OMIM:114300 HPO:skoehler 03.08.2014
+OMIM:114300 #114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3;;GORDON SYNDROME;;ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA;;CAMPTODACTYLY, CLEFT PALATE, AND CLUBFOOT HP:0002804 Arthrogryposis multiplex congenita IEA IEA Disease name contained:#114300 arthrogryposis, distal, OMIM:114300 HPO:skoehler 19.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-117360.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-117360.tab 2015-01-19 16:22:33 UTC (rev 5250)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-117360.tab 2015-01-19 17:34:45 UTC (rev 5251)
@@ -15,3 +15,4 @@
OMIM:117360 #117360 SPINOCEREBELLAR ATAXIA 29; SCA29;;CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT;CNPCA;;CEREBELLAR VERMIS APLASIA;;APLASIA OF CEREBELLAR VERMIS; ACV HP:0002080 Intention tremor IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTENTION TREMOR OMIM:117360 HPO:skoehler 25.02.2013
OMIM:117360 #117360 SPINOCEREBELLAR ATAXIA 29; SCA29;;CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT;CNPCA;;CEREBELLAR VERMIS APLASIA;;APLASIA OF CEREBELLAR VERMIS; ACV HP:0002070 Limb ataxia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > LIMB ATAXIA OMIM:117360 HPO:skoehler 25.02.2013
OMIM:117360 #117360 SPINOCEREBELLAR ATAXIA 29; SCA29;;CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT;CNPCA;;CEREBELLAR VERMIS APLASIA;;APLASIA OF CEREBELLAR VERMIS; ACV HP:0100543 Cognitive impairment IEA IEA MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > COGNITIVE IMPAIRMENT, MILD OMIM:117360 HPO:skoehler 04.04.2014
+OMIM:117360 #117360 SPINOCEREBELLAR ATAXIA 29; SCA29;;CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT;CNPCA;;CEREBELLAR VERMIS APLASIA;;APLASIA OF CEREBELLAR VERMIS; ACV HP:0002335 Agenesis of cerebellar vermis IEA IEA Disease name contained:nt;cnpca;;cerebellar vermis aplasia;;aplasia OMIM:117360 HPO:skoehler 19.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-121070.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-121070.tab 2015-01-19 16:22:33 UTC (rev 5250)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-121070.tab 2015-01-19 17:34:45 UTC (rev 5251)
@@ -8,3 +8,4 @@
OMIM:121070 ARTHROGRYPOSIS, DISTAL, TYPE 2E HP:0005684 Distal arthrogryposis TAS TAS OMIM:121070 HPO:probinson Feb 17, 2009
OMIM:121070 ARTHROGRYPOSIS, DISTAL, TYPE 2E HP:0009473 Joint contracture of the hand TAS TAS Severe OMIM:121070 HPO:probinson May 27, 2012
OMIM:121070 ARTHROGRYPOSIS, DISTAL, TYPE 2E HP:0100492 Joint contractures involving the joints of the feet TAS TAS Severe OMIM:121070 HPO:probinson May 27, 2012
+OMIM:121070 ARTHROGRYPOSIS, DISTAL, TYPE 2E HP:0002804 Arthrogryposis multiplex congenita IEA IEA Disease name contained:arthrogryposis, distal, OMIM:121070 HPO:skoehler 19.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-121800.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-121800.tab 2015-01-19 16:22:33 UTC (rev 5250)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-121800.tab 2015-01-19 17:34:45 UTC (rev 5251)
@@ -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:121800 CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:121800 HPO 17.02.2009
OMIM:121800 CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER HP:0007760 Crystalline corneal dystrophy IEA IEA OMIM:121800 HPO 17.02.2009
+OMIM:121800 CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER HP:0001131 Corneal dystrophy IEA IEA Disease name contained:corneal dystrophy, crystall OMIM:121800 HPO:skoehler 19.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-121820.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-121820.tab 2015-01-19 16:22:33 UTC (rev 5250)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-121820.tab 2015-01-19 17:34:45 UTC (rev 5251)
@@ -2,3 +2,4 @@
OMIM:121820 CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:121820 HPO 17.02.2009
OMIM:121820 CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE HP:0000495 Recurrent corneal erosions IEA IEA OMIM:121820 HPO:skoehler 18.06.2010
OMIM:121820 CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE HP:0007690 Map-dot-fingerprint corneal dystrophy IEA IEA OMIM:121820 HPO 17.02.2009
+OMIM:121820 CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE HP:0001131 Corneal dystrophy IEA IEA Disease name contained:corneal dystrophy, epitheli OMIM:121820 HPO:skoehler 19.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-122000.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-122000.tab 2015-01-19 16:22:33 UTC (rev 5250)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-122000.tab 2015-01-19 17:34:45 UTC (rev 5251)
@@ -5,3 +5,4 @@
OMIM:122000 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 HP:0000687 Widely spaced teeth IEA IEA OMIM:122000 HPO 17.02.2009
OMIM:122000 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 HP:0001513 Obesity IEA IEA OMIM:122000 HPO 17.02.2009
OMIM:122000 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 HP:0007915 Polymorphous posterior corneal dystrophy IEA IEA OMIM:122000 HPO 17.02.2009
+OMIM:122000 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 HP:0001131 Corneal dystrophy IEA IEA Disease name contained:corneal dystrophy, posterio OMIM:122000 HPO:skoehler 19.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-123500.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-123500.tab 2015-01-19 16:22:33 UTC (rev 5250)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-123500.tab 2015-01-19 17:34:45 UTC (rev 5251)
@@ -22,3 +22,4 @@
MIM:123500 CROUZON SYNDROME MIM:176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2 FGFR2 HP:0004443 Lambdoidal craniosynostosis PCS PCS MIM:123500 24.02.2012
MIM:123500 CROUZON SYNDROME MIM:176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2 FGFR2 HP:0004442 Sagittal craniosynostosis PCS PCS MIM:123500 24.02.2012
OMIM:123500 #123500 CROUZON SYNDROME;;CRANIOFACIAL DYSOSTOSIS, TYPE I; CFD1;;CROUZON CRANIOFACIAL DYSOSTOSIS HP:0010535 Sleep apnea IEA IEA OMIM-CS:RESPIRATORY_NASOPHARYNX > SLEEP APNEA OMIM:123500 HPO:skoehler 17.10.2012
+OMIM:123500 #123500 CROUZON SYNDROME;;CRANIOFACIAL DYSOSTOSIS, TYPE I; CFD1;;CROUZON CRANIOFACIAL DYSOSTOSIS HP:0004439 Craniofacial dysostosis IEA IEA Disease name contained:syndrome;;craniofacial dysostosis, type i; OMIM:123500 HPO:skoehler 19.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-129200.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-129200.tab 2015-01-19 16:22:33 UTC (rev 5250)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-129200.tab 2015-01-19 17:34:45 UTC (rev 5251)
@@ -7,4 +7,4 @@
OMIM:129200 %129200 ADERMATOGLYPHIA WITH CONGENITAL FACIAL MILIA AND ACRAL BLISTERS, DIGITALCONTRACTURES, AND NAIL ABNORMALITIES;;ECTODERMAL DYSPLASIA, ABSENT DERMATOGLYPHIC PATTERN, CHANGES IN NAILS,AND SIMIAN CREASE;;BASAN SYNDROME HP:0001371 Flexion contracture IEA IEA OMIM-CS:SKELETAL_FEET > FLEXION CONTRACTURES OF TOES OMIM:129200 HPO:skoehler 22.01.2013
OMIM:129200 %129200 ADERMATOGLYPHIA WITH CONGENITAL FACIAL MILIA AND ACRAL BLISTERS, DIGITALCONTRACTURES, AND NAIL ABNORMALITIES;;ECTODERMAL DYSPLASIA, ABSENT DERMATOGLYPHIC PATTERN, CHANGES IN NAILS,AND SIMIAN CREASE;;BASAN SYNDROME HP:0001371 Flexion contracture IEA IEA OMIM-CS:SKELETAL_HANDS > FLEXION CONTRACTURES OF FINGERS OMIM:129200 HPO:skoehler 22.01.2013
OMIM:129200 %129200 ADERMATOGLYPHIA WITH CONGENITAL FACIAL MILIA AND ACRAL BLISTERS, DIGITALCONTRACTURES, AND NAIL ABNORMALITIES;;ECTODERMAL DYSPLASIA, ABSENT DERMATOGLYPHIC PATTERN, CHANGES IN NAILS,AND SIMIAN CREASE;;BASAN SYNDROME HP:0000968 Ectodermal dysplasia IEA IEA OMIM:129200 HPO:skoehler 14.01.2015
-
+OMIM:129200 %129200 ADERMATOGLYPHIA WITH CONGENITAL FACIAL MILIA AND ACRAL BLISTERS, DIGITALCONTRACTURES, AND NAIL ABNORMALITIES;;ECTODERMAL DYSPLASIA, ABSENT DERMATOGLYPHIC PATTERN, CHANGES IN NAILS,AND SIMIAN CREASE;;BASAN SYNDROME HP:0007455 Adermatoglyphia IEA IEA Disease name contained:%129200 adermatoglyphia with cong OMIM:129200 HPO:skoehler 19.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-134780.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-134780.tab 2015-01-19 16:22:33 UTC (rev 5250)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-134780.tab 2015-01-19 17:34:45 UTC (rev 5251)
@@ -47,3 +47,4 @@
OMIM:134780 FEMORAL-FACIAL SYNDROME HP:0004704 Short fifth metatarsal TAS TAS OMIM:134780 HPO:probinson 08.05.2012
OMIM:134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0200086 Thin upper lip IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > THIN UPPER LIP OMIM:134780 HPO:skoehler 04.06.2013
OMIM:134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0001249 Intellectual disability IEA IEA NOT NOT OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > NORMAL INTELLIGENCE OMIM:134780 HPO:skoehler 26.11.2014
+OMIM:134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0001999 Abnormal facial shape IEA IEA Disease name contained:ypoplasia-unusual facies syndrome; OMIM:134780 HPO:skoehler 19.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-139750.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-139750.tab 2015-01-19 16:22:33 UTC (rev 5250)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-139750.tab 2015-01-19 17:34:45 UTC (rev 5251)
@@ -7,3 +7,4 @@
OMIM:139750 HAND AND FOOT DEFORMITY WITH FLAT FACIES HP:0009626 Contractures of the interphalangeal joint of the thumb TAS TAS OMIM:139750 HPO:probinson Feb 17, 2009
OMIM:139750 HAND AND FOOT DEFORMITY WITH FLAT FACIES HP:0006070 Metacarpophalangeal joint contractures TAS TAS OMIM:139750 HPO:probinson Mar 31, 2013
OMIM:139750 139750 HAND AND FOOT DEFORMITY WITH FLAT FACIES HP:0012368 Flat face IEA IEA OMIM-CS:FACIES > FLAT FACE OMIM:139750 HPO:skoehler 22.10.2013
+OMIM:139750 139750 HAND AND FOOT DEFORMITY WITH FLAT FACIES HP:0001760 Abnormality of the foot IEA IEA Disease name contained: hand and foot deformity with flat OMIM:139750 HPO:skoehler 19.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-158300.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-158300.tab 2015-01-19 16:22:33 UTC (rev 5250)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-158300.tab 2015-01-19 17:34:45 UTC (rev 5251)
@@ -14,3 +14,4 @@
OMIM:158300 TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME HP:0004322 Short stature IEA IEA OMIM:158300 HPO 17.02.2009
OMIM:158300 TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME HP:0010621 Cutaneous syndactyly of toes IEA IEA OMIM:158300 HPO 17.02.2009
OMIM:158300 #158300 ARTHROGRYPOSIS, DISTAL, TYPE 7; DA7;;TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME;;MOUTH, INABILITY TO OPEN COMPLETELY, AND SHORT FINGER-FLEXOR TENDONS;;HECHT SYNDROME HP:0011968 Feeding difficulties IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > FEEDING PROBLEMS OMIM:158300 HPO:skoehler 17.10.2012
+OMIM:158300 #158300 ARTHROGRYPOSIS, DISTAL, TYPE 7; DA7;;TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME;;MOUTH, INABILITY TO OPEN COMPLETELY, AND SHORT FINGER-FLEXOR TENDONS;;HECHT SYNDROME HP:0002804 Arthrogryposis multiplex congenita IEA IEA Disease name contained:#158300 arthrogryposis, distal, OMIM:158300 HPO:skoehler 19.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-159556.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-159556.tab 2015-01-19 16:22:33 UTC (rev 5250)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-159556.tab 2015-01-19 17:34:45 UTC (rev 5251)
@@ -2,3 +2,4 @@
OMIM:159556 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 1 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:159556 HPO 17.02.2009
OMIM:159556 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 1 HP:0001871 Abnormality of the hematopoietic system IEA IEA OMIM:159556 HPO 17.02.2009
OMIM:159556 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 1 HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:159556 HPO 17.02.2009
+OMIM:159556 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 1 HP:0001909 Leukemia IEA IEA Disease name contained:d lineage leukemia, transloc OMIM:159556 HPO:skoehler 19.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-159557.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-159557.tab 2015-01-19 16:22:33 UTC (rev 5250)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-159557.tab 2015-01-19 17:34:45 UTC (rev 5251)
@@ -2,3 +2,4 @@
OMIM:159557 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 2 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:159557 HPO 17.02.2009
OMIM:159557 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 2 HP:0001871 Abnormality of the hematopoietic system IEA IEA OMIM:159557 HPO 17.02.2009
OMIM:159557 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 2 HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:159557 HPO 17.02.2009
+OMIM:159557 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 2 HP:0001909 Leukemia IEA IEA Disease name contained:d lineage leukemia, transloc OMIM:159557 HPO:skoehler 19.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-159558.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-159558.tab 2015-01-19 16:22:33 UTC (rev 5250)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-159558.tab 2015-01-19 17:34:45 UTC (rev 5251)
@@ -2,3 +2,4 @@
OMIM:159558 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 3 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:159558 HPO 17.02.2009
OMIM:159558 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 3 HP:0001871 Abnormality of the hematopoietic system IEA IEA OMIM:159558 HPO 17.02.2009
OMIM:159558 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 3 HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:159558 HPO 17.02.2009
+OMIM:159558 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 3 HP:0001909 Leukemia IEA IEA Disease name contained:d lineage leukemia, transloc OMIM:159558 HPO:skoehler 19.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-167320.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-167320.tab 2015-01-19 16:22:33 UTC (rev 5250)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-167320.tab 2015-01-19 17:34:45 UTC (rev 5251)
@@ -25,3 +25,4 @@
OMIM:167320 #167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORALDEMENTIA; IBMPFD;;MUSCULAR DYSTROPHY, LIMB-GIRDLE, WITH PAGET DISEASE OF BONE;;PAGETOID AMYOTROPHIC LATERAL SCLEROSIS;;PAGETOID NEUROSKELETAL SYNDROME;;LOWER MOTOR NEURON DEGENERATION WITH PAGET-LIKE BONE DISEASE HP:0003749 Pelvic girdle muscle weakness IEA IEA OMIM-CS:MUSCLE > PELVIC GIRDLE WEAKNESS AND ATROPHY OMIM:167320 HPO:skoehler Nov 21, 2012
OMIM:167320 #167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORALDEMENTIA; IBMPFD;;MUSCULAR DYSTROPHY, LIMB-GIRDLE, WITH PAGET DISEASE OF BONE;;PAGETOID AMYOTROPHIC LATERAL SCLEROSIS;;PAGETOID NEUROSKELETAL SYNDROME;;LOWER MOTOR NEURON DEGENERATION WITH PAGET-LIKE BONE DISEASE HP:0002357 Dysphasia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > EXPRESSIVE DYSPHASIA OMIM:167320 HPO:skoehler Nov 21, 2012
OMIM:167320 #167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORALDEMENTIA; IBMPFD;;MUSCULAR DYSTROPHY, LIMB-GIRDLE, WITH PAGET DISEASE OF BONE;;PAGETOID AMYOTROPHIC LATERAL SCLEROSIS;;PAGETOID NEUROSKELETAL SYNDROME;;LOWER MOTOR NEURON DEGENERATION WITH PAGET-LIKE BONE DISEASE HP:0000726 Dementia IEA IEA OMIM-CS:MISCELLANEOUS > INCOMPLETE PENETRANCE OF THE 3 MAIN CLINICAL SIGNS, MYOPATHY, DEMENTIA, OMIM:167320 HPO:skoehler Nov 21, 2012
+OMIM:167320 #167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORALDEMENTIA; IBMPFD;;MUSCULAR DYSTROPHY, LIMB-GIRDLE, WITH PAGET DISEASE OF BONE;;PAGETOID AMYOTROPHIC LATERAL SCLEROSIS;;PAGETOID NEUROSKELETAL SYNDROME;;LOWER MOTOR NEURON DEGENERATION WITH PAGET-LIKE BONE DISEASE HP:0007354 Amyotrophic lateral sclerosis IEA IEA Disease name contained:;pagetoid amyotrophic lateral sclerosis;;pagetoid OMIM:167320 HPO:skoehler 19.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-177735.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-177735.tab 2015-01-19 16:22:33 UTC (rev 5250)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-177735.tab 2015-01-19 17:34:45 UTC (rev 5251)
@@ -14,3 +14,4 @@
OMIM:177735 #177735 PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT; PHA1A;;PHA I, AUTOSOMAL DOMINANT HP:0003812 Phenotypic variability IEA IEA OMIM-CS:MISCELLANEOUS > HIGHLY VARIABLE PHENOTYPE OMIM:177735 HPO:skoehler Oct 12, 2012
OMIM:177735 #177735 PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT; PHA1A;;PHA I, AUTOSOMAL DOMINANT HP:0003593 Infantile onset IEA IEA OMIM-CS:MISCELLANEOUS > ONSET IN INFANCY OMIM:177735 HPO:skoehler Oct 12, 2012
OMIM:177735 #177735 PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT; PHA1A;;PHA I, AUTOSOMAL DOMINANT HP:0000841 Hyperactive renin-angiotensin system IEA IEA OMIM-CS:LABORATORY ABNORMALITIES > INCREASED PLASMA RENIN ACTIVITY OMIM:177735 HPO:skoehler 13.06.2013
+OMIM:177735 #177735 PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT; PHA1A;;PHA I, AUTOSOMAL DOMINANT HP:0008242 Pseudohypoaldosteronism IEA IEA Disease name contained:#177735 pseudohypoaldosteronism, type i, OMIM:177735 HPO:skoehler 19.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-178110.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-178110.tab 2015-01-19 16:22:33 UTC (rev 5250)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-178110.tab 2015-01-19 17:34:45 UTC (rev 5251)
@@ -4,3 +4,4 @@
OMIM:178110 MULTIPLE PTERYGIUM SYNDROME, AUTOSOMAL DOMINANT HP:0002650 Scoliosis IEA IEA OMIM:178110 HPO 17.02.2009
OMIM:178110 MULTIPLE PTERYGIUM SYNDROME, AUTOSOMAL DOMINANT HP:0002937 Hemivertebrae IEA IEA OMIM:178110 HPO 17.02.2009
OMIM:178110 %178110 ARTHROGRYPOSIS, DISTAL, TYPE 8; DA8;;MULTIPLE PTERYGIUM SYNDROME, AUTOSOMAL DOMINANT;;PTERYGIUM SYNDROME, MULTIPLE, AUTOSOMAL DOMINANT HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT FORM OMIM:178110 HPO:skoehler 29.05.2013
+OMIM:178110 %178110 ARTHROGRYPOSIS, DISTAL, TYPE 8; DA8;;MULTIPLE PTERYGIUM SYNDROME, AUTOSOMAL DOMINANT;;PTERYGIUM SYNDROME, MULTIPLE, AUTOSOMAL DOMINANT HP:0002804 Arthrogryposis multiplex congenita IEA IEA Disease name contained:%178110 arthrogryposis, distal, OMIM:178110 HPO:skoehler 19.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-186860.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-186860.tab 2015-01-19 16:22:33 UTC (rev 5250)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-186860.tab 2015-01-19 17:34:45 UTC (rev 5251)
@@ -2,3 +2,4 @@
OMIM:186860 T-CELL LEUKEMIA/LYMPHOMA 4 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:186860 HPO Feb 17, 2009
OMIM:186860 T-CELL LEUKEMIA/LYMPHOMA 4 HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:186860 HPO Feb 17, 2009
OMIM:186860 T-CELL LEUKEMIA/LYMPHOMA 4 HP:0005517 T-cell lymphoma/leukemia TAS TAS OMIM:186860 HPO:skoehler Feb 17, 2009
+OMIM:186860 T-CELL LEUKEMIA/LYMPHOMA 4 HP:0001909 Leukemia IEA IEA Disease name contained:t-cell leukemia/lymphoma OMIM:186860 HPO:skoehler 19.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-186960.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-186960.tab 2015-01-19 16:22:33 UTC (rev 5250)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-186960.tab 2015-01-19 17:34:45 UTC (rev 5251)
@@ -1,2 +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:186960 T-CELL LEUKEMIA/LYMPHOMA 1A HP:0005517 T-cell lymphoma/leukemia TAS TAS OMIM:186960 HPO:probinson Feb 17, 2009
+OMIM:186960 T-CELL LEUKEMIA/LYMPHOMA 1A HP:0001909 Leukemia IEA IEA Disease name contained:t-cell leukemia/lymphoma OMIM:186960 HPO:skoehler 19.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-187040.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-187040.tab 2015-01-19 16:22:33 UTC (rev 5250)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-187040.tab 2015-01-19 17:34:45 UTC (rev 5251)
@@ -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:187040 T-CELL ACUTE LYMPHOCYTIC LEUKEMIA 1 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:187040 HPO Feb 17, 2009
OMIM:187040 T-CELL ACUTE LYMPHOCYTIC LEUKEMIA 1 HP:0005517 T-cell lymphoma/leukemia TAS TAS OMIM:187040 HPO:skoehler Feb 17, 2009
+OMIM:187040 T-CELL ACUTE LYMPHOCYTIC LEUKEMIA 1 HP:0001909 Leukemia IEA IEA Disease name contained:mphocytic leukemia 1 OMIM:187040 HPO:skoehler 19.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-187370.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-187370.tab 2015-01-19 16:22:33 UTC (rev 5250)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-187370.tab 2015-01-19 17:34:45 UTC (rev 5251)
@@ -10,3 +10,4 @@
OMIM:187370 ARTHROGRYPOSIS, DISTAL, TYPE 10 HP:0005684 Distal arthrogryposis TAS TAS OMIM:187370 HPO:probinson Dec 21, 2013
OMIM:187370 ARTHROGRYPOSIS, DISTAL, TYPE 10 HP:0011463 Childhood onset TAS TAS OMIM:187370 HPO:probinson Dec 21, 2013
OMIM:187370 %187370 ARTHROGRYPOSIS, DISTAL, TYPE 10; DA10;;CONGENITAL PLANTAR CONTRACTURES;;TENDO CALCANEUS, SHORT HP:0040083 Toe walking IEA IEA OMIM-CS:MISCELLANEOUS > TOE-WALKING OMIM:187370 HPO:skoehler 27.11.2014
+OMIM:187370 %187370 ARTHROGRYPOSIS, DISTAL, TYPE 10; DA10;;CONGENITAL PLANTAR CONTRACTURES;;TENDO CALCANEUS, SHORT HP:0002804 Arthrogryposis multiplex congenita IEA IEA Disease name contained:%187370 arthrogryposis, distal, OMIM:187370 HPO:skoehler 19.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-193050.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-193050.tab 2015-01-19 16:22:33 UTC (rev 5250)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-193050.tab 2015-01-19 17:34:45 UTC (rev 5251)
@@ -3,3 +3,4 @@
OMIM:193050 VIBRATORY ANGIOEDEMA HP:0000969 Edema IEA IEA OMIM:193050 HPO:skoehler 20.06.2010
OMIM:193050 VIBRATORY ANGIOEDEMA HP:0002315 Headache IEA IEA OMIM:193050 HPO:skoehler 20.06.2010
OMIM:193050 VIBRATORY ANGIOEDEMA HP:0010783 Erythema IEA IEA OMIM:193050 HPO:skoehler 20.06.2010
+OMIM:193050 VIBRATORY ANGIOEDEMA HP:0100665 Angioedema IEA IEA Disease name contained:vibratory angioedema OMIM:193050 HPO:skoehler 19.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-193700.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-193700.tab 2015-01-19 16:22:33 UTC (rev 5250)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-193700.tab 2015-01-19 17:34:45 UTC (rev 5251)
@@ -53,3 +53,4 @@
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
+OMIM:193700 #193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A;;FREEMAN-SHELDON SYNDROME; FSS;;WHISTLING FACE-WINDMILL VANE HAND SYNDROME;;CRANIOCARPOTARSAL DYSTROPHY;;CRANIOCARPOTARSAL DYSPLASIA HP:0002804 Arthrogryposis multiplex congenita IEA IEA Disease name contained:#193700 arthrogryposis, distal, OMIM:193700 HPO:skoehler 19.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-200990.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-200990.tab 2015-01-19 16:22:33 UTC (rev 5250)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-200990.tab 2015-01-19 17:34:45 UTC (rev 5251)
@@ -67,3 +67,4 @@
OMIM:200990 #200990 ACROCALLOSAL SYNDROME; ACLS;;HALLUX DUPLICATION, POSTAXIAL POLYDACTYLY, AND ABSENCE OF CORPUS CALLOSUM;;SCHINZEL ACROCALLOSAL SYNDROMEJOUBERT SYNDROME 12, INCLUDED; JBTS12, INCLUDED;;JOUBERT SYNDROME 12/15, DIGENIC, INCLUDED HP:0004209 Clinodactyly of the 5th finger IEA IEA OMIM-CS:SKELETAL_HANDS > FIFTH FINGER CLINODACTYLY OMIM:200990 HPO:skoehler 17.10.2012
OMIM:200990 #200990 ACROCALLOSAL SYNDROME; ACLS;;HALLUX DUPLICATION, POSTAXIAL POLYDACTYLY, AND ABSENCE OF CORPUS CALLOSUM;;SCHINZEL ACROCALLOSAL SYNDROMEJOUBERT SYNDROME 12, INCLUDED; JBTS12, INCLUDED;;JOUBERT SYNDROME 12/15, DIGENIC, INCLUDED HP:0000589 Coloboma IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > COLOBOMA (1 PATIENT) OMIM:200990 HPO:skoehler 18.11.2012
OMIM:200990 #200990 ACROCALLOSAL SYNDROME; ACLS;;HALLUX DUPLICATION, POSTAXIAL POLYDACTYLY, AND ABSENCE OF CORPUS CALLOSUM;;SCHINZEL ACROCALLOSAL SYNDROMEJOUBERT SYNDROME 12, INCLUDED; JBTS12, INCLUDED;;JOUBERT SYNDROME 12/15, DIGENIC, INCLUDED HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY OMIM:200990 HPO:skoehler 26.11.2014
+OMIM:200990 #200990 ACROCALLOSAL SYNDROME; ACLS;;HALLUX DUPLICATION, POSTAXIAL POLYDACTYLY, AND ABSENCE OF CORPUS CALLOSUM;;SCHINZEL ACROCALLOSAL SYNDROMEJOUBERT SYNDROME 12, INCLUDED; JBTS12, INCLUDED;;JOUBERT SYNDROME 12/15, DIGENIC, INCLUDED HP:0001274 Agenesis of corpus callosum IEA IEA Disease name contained:tyly, and absence of corpus callosum;;schinzel OMIM:200990 HPO:skoehler 19.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-201550.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-201550.tab 2015-01-19 16:22:33 UTC (rev 5250)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-201550.tab 2015-01-19 17:34:45 UTC (rev 5251)
@@ -13,3 +13,4 @@
MIM:201550 ADDUCTED THUMBS SYNDROME HP:0003198 Myopathy IEA IEA Feb 17, 2009
MIM:201550 ADDUCTED THUMBS SYNDROME HP:0006990 Myelin-dependent gliosis IEA IEA Feb 17, 2009
MIM:201550 ADDUCTED THUMBS SYNDROME HP:0007266 Cerebral dysmyelination PCS PCS MIM:201550 HPO:probinson Mar 12, 2012
+OMIM:201550 ADDUCTED THUMBS SYNDROME HP:0002804 Arthrogryposis multiplex congenita IEA IEA Disease name contained: thumbs - arthrogryposis, christia OMIM:201550 HPO:skoehler 19.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-201910.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-201910.tab 2015-01-19 16:22:33 UTC (rev 5250)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-201910.tab 2015-01-19 17:34:45 UTC (rev 5251)
@@ -9,3 +9,4 @@
OMIM:201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY HP:0001507 Growth abnormality IEA IEA OMIM:201910 HPO Feb 17, 2009
OMIM:201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY HP:0001943 Hypoglycemia IEA IEA OMIM:201910 HPO Feb 17, 2009
OMIM:201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY HP:0001945 Fever IEA IEA OMIM:201910 HPO:skoehler Jun 20, 2010
+OMIM:201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY HP:0008221 Adrenal hyperplasia IEA IEA Disease name contained:adrenal hyperplasia, congenit OMIM:201910 HPO:skoehler 19.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-202110.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-202110.tab 2015-01-19 16:22:33 UTC (rev 5250)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-202110.tab 2015-01-19 17:34:45 UTC (rev 5251)
@@ -7,3 +7,4 @@
OMIM:202110 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY HP:0000822 Hypertension IEA IEA OMIM:202110 HPO 17.02.2009
OMIM:202110 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY HP:0000840 Adrenogenital syndrome IEA IEA OMIM:202110 HPO 17.02.2009
OMIM:202110 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY HP:00019...
[truncated message content] |
|
From: <koe...@us...> - 2015-01-19 16:22:36
|
Revision: 5250
http://sourceforge.net/p/obo/svn/5250
Author: koehlers
Date: 2015-01-19 16:22:33 +0000 (Mon, 19 Jan 2015)
Log Message:
-----------
manual annotation updates
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-163950.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-250950.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-308200.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-163950.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-163950.tab 2015-01-16 10:42:37 UTC (rev 5249)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-163950.tab 2015-01-19 16:22:33 UTC (rev 5250)
@@ -35,14 +35,14 @@
MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0000325 Triangular face PCS PCS MIM:163950 HPO:probinson Mar 18, 2012
MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0001249 Intellectual disability PCS PCS 25% MIM:163950 HPO:probinson Mar 18, 2012
MIM:163950 NOONAN SYNDROME 1 MIM:176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11 PTPN11 HP:0004841 Reduced factor XII activity IEA IEA Partial HPO:probinson May 26, 2012
-OMIM:163950 #163950 NOONAN SYNDROME 1; NS1;;NOONAN SYNDROME;;MALE TURNER SYNDROME;;FEMALE PSEUDO-TURNER SYNDROME;;TURNER PHENOTYPE WITH NORMAL KARYOTYPEPTERYGIUM COLLI SYNDROME, INCLUDED HP:0001680 Coarctation of aorta IEA IEA OMIM-CS:CARDIOVASCULAR_VASCULAR > AORTIC COARCTATION OMIM:163950 HPO:skoehler Oct 17, 2012
-OMIM:163950 #163950 NOONAN SYNDROME 1; NS1;;NOONAN SYNDROME;;MALE TURNER SYNDROME;;FEMALE PSEUDO-TURNER SYNDROME;;TURNER PHENOTYPE WITH NORMAL KARYOTYPEPTERYGIUM COLLI SYNDROME, INCLUDED HP:0000470 Short neck IEA IEA OMIM-CS:HEAD AND NECK_NECK > SHORT NECK OMIM:163950 HPO:skoehler Oct 17, 2012
-OMIM:163950 #163950 NOONAN SYNDROME 1; NS1;;NOONAN SYNDROME;;MALE TURNER SYNDROME;;FEMALE PSEUDO-TURNER SYNDROME;;TURNER PHENOTYPE WITH NORMAL KARYOTYPEPTERYGIUM COLLI SYNDROME, INCLUDED HP:0001425 Heterogeneous IEA IEA OMIM-CS:MISCELLANEOUS > GENETIC HETEROGENEITY OMIM:163950 HPO:skoehler Oct 17, 2012
-OMIM:163950 #163950 NOONAN SYNDROME 1; NS1;;NOONAN SYNDROME;;MALE TURNER SYNDROME;;FEMALE PSEUDO-TURNER SYNDROME;;TURNER PHENOTYPE WITH NORMAL KARYOTYPEPTERYGIUM COLLI SYNDROME, INCLUDED HP:0100697 Neurofibrosarcoma IEA IEA OMIM-CS:NEOPLASIA > MALIGNANT SCHWANNOMA OMIM:163950 HPO:skoehler Oct 17, 2012
-OMIM:163950 #163950 NOONAN SYNDROME 1; NS1;;NOONAN SYNDROME;;MALE TURNER SYNDROME;;FEMALE PSEUDO-TURNER SYNDROME;;TURNER PHENOTYPE WITH NORMAL KARYOTYPEPTERYGIUM COLLI SYNDROME, INCLUDED HP:0002751 Kyphoscoliosis IEA IEA OMIM-CS:SKELETAL_SPINE > KYPHOSCOLIOSIS OMIM:163950 HPO:skoehler Oct 17, 2012
-OMIM:163950 #163950 NOONAN SYNDROME 1; NS1;;NOONAN SYNDROME;;MALE TURNER SYNDROME;;FEMALE PSEUDO-TURNER SYNDROME;;TURNER PHENOTYPE WITH NORMAL KARYOTYPEPTERYGIUM COLLI SYNDROME, INCLUDED HP:0001639 Hypertrophic cardiomyopathy IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > HYPERTROPHIC OBSTRUCTIVE CARDIOMYOPATHY OMIM:163950 HPO:skoehler Nov 26, 2012
-OMIM:163950 #163950 NOONAN SYNDROME 1; NS1;;NOONAN SYNDROME;;MALE TURNER SYNDROME;;FEMALE PSEUDO-TURNER SYNDROME;;TURNER PHENOTYPE WITH NORMAL KARYOTYPEPTERYGIUM COLLI SYNDROME, INCLUDED HP:0003251 Male infertility IEA IEA OMIM-CS:GENITOURINARY_INTERNAL GENITALIA, MALE > MALE INFERTILITY IN INDIVIDUALS WITH BILATERAL CRYPTORCHIDISM OMIM:163950 HPO:skoehler Nov 26, 2012
-OMIM:163950 #163950 NOONAN SYNDROME 1; NS1;;NOONAN SYNDROME;;MALE TURNER SYNDROME;;FEMALE PSEUDO-TURNER SYNDROME;;TURNER PHENOTYPE WITH NORMAL KARYOTYPEPTERYGIUM COLLI SYNDROME, INCLUDED HP:0000135 Hypogonadism IEA IEA occasional OMIM-CS:GENITOURINARY_INTERNAL GENITALIA, MALE > OCCASIONAL HYPOGONADISM OMIM:163950 HPO:skoehler Nov 26, 2012
-OMIM:163950 #163950 NOONAN SYNDROME 1; NS1;;NOONAN SYNDROME;;MALE TURNER SYNDROME;;FEMALE PSEUDO-TURNER SYNDROME;;TURNER PHENOTYPE WITH NORMAL KARYOTYPEPTERYGIUM COLLI SYNDROME, INCLUDED HP:0004322 Short stature HP:0003593 Infantile onset IEA IEA OMIM-CS:GROWTH_HEIGHT > SHORT STATURE (POSTNATAL ONSET) OMIM:163950 HPO:skoehler Nov 26, 2012
-OMIM:163950 #163950 NOONAN SYNDROME 1; NS1;;NOONAN SYNDROME;;MALE TURNER SYNDROME;;FEMALE PSEUDO-TURNER SYNDROME;;TURNER PHENOTYPE WITH NORMAL KARYOTYPEPTERYGIUM COLLI SYNDROME, INCLUDED HP:0100769 Synovitis IEA IEA OMIM-CS:SKELETAL_LIMBS > POLYARTICULAR VILLONODULAR SYNOVITIS (KNEES, ANKLES, WRISTS, ELBOWS OMIM:163950 HPO:skoehler Nov 26, 2012
-OMIM:163950 #163950 NOONAN SYNDROME 1; NS1;;NOONAN SYNDROME;;MALE TURNER SYNDROME;;FEMALE PSEUDO-TURNER SYNDROME;;TURNER PHENOTYPE WITH NORMAL KARYOTYPEPTERYGIUM COLLI SYNDROME, INCLUDED HP:0030084 Clinodactyly IEA IEA OMIM-CS:SKELETAL_LIMBS > CLINODACTYLY OMIM:163950 HPO:skoehler 21.09.2014
+OMIM:163950 #163950 NOONAN SYNDROME 1; NS1;;NOONAN SYNDROME;;MALE TURNER SYNDROME;;FEMALE PSEUDO-TURNER SYNDROME;;TURNER PHENOTYPE WITH NORMAL KARYOTYPE;;PTERYGIUM COLLI SYNDROME, INCLUDED HP:0001680 Coarctation of aorta IEA IEA OMIM-CS:CARDIOVASCULAR_VASCULAR > AORTIC COARCTATION OMIM:163950 HPO:skoehler Oct 17, 2012
+OMIM:163950 #163950 NOONAN SYNDROME 1; NS1;;NOONAN SYNDROME;;MALE TURNER SYNDROME;;FEMALE PSEUDO-TURNER SYNDROME;;TURNER PHENOTYPE WITH NORMAL KARYOTYPE;;PTERYGIUM COLLI SYNDROME, INCLUDED HP:0000470 Short neck IEA IEA OMIM-CS:HEAD AND NECK_NECK > SHORT NECK OMIM:163950 HPO:skoehler Oct 17, 2012
+OMIM:163950 #163950 NOONAN SYNDROME 1; NS1;;NOONAN SYNDROME;;MALE TURNER SYNDROME;;FEMALE PSEUDO-TURNER SYNDROME;;TURNER PHENOTYPE WITH NORMAL KARYOTYPE;;PTERYGIUM COLLI SYNDROME, INCLUDED HP:0001425 Heterogeneous IEA IEA OMIM-CS:MISCELLANEOUS > GENETIC HETEROGENEITY OMIM:163950 HPO:skoehler Oct 17, 2012
+OMIM:163950 #163950 NOONAN SYNDROME 1; NS1;;NOONAN SYNDROME;;MALE TURNER SYNDROME;;FEMALE PSEUDO-TURNER SYNDROME;;TURNER PHENOTYPE WITH NORMAL KARYOTYPE;;PTERYGIUM COLLI SYNDROME, INCLUDED HP:0100697 Neurofibrosarcoma IEA IEA OMIM-CS:NEOPLASIA > MALIGNANT SCHWANNOMA OMIM:163950 HPO:skoehler Oct 17, 2012
+OMIM:163950 #163950 NOONAN SYNDROME 1; NS1;;NOONAN SYNDROME;;MALE TURNER SYNDROME;;FEMALE PSEUDO-TURNER SYNDROME;;TURNER PHENOTYPE WITH NORMAL KARYOTYPE;;PTERYGIUM COLLI SYNDROME, INCLUDED HP:0002751 Kyphoscoliosis IEA IEA OMIM-CS:SKELETAL_SPINE > KYPHOSCOLIOSIS OMIM:163950 HPO:skoehler Oct 17, 2012
+OMIM:163950 #163950 NOONAN SYNDROME 1; NS1;;NOONAN SYNDROME;;MALE TURNER SYNDROME;;FEMALE PSEUDO-TURNER SYNDROME;;TURNER PHENOTYPE WITH NORMAL KARYOTYPE;;PTERYGIUM COLLI SYNDROME, INCLUDED HP:0001639 Hypertrophic cardiomyopathy IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > HYPERTROPHIC OBSTRUCTIVE CARDIOMYOPATHY OMIM:163950 HPO:skoehler Nov 26, 2012
+OMIM:163950 #163950 NOONAN SYNDROME 1; NS1;;NOONAN SYNDROME;;MALE TURNER SYNDROME;;FEMALE PSEUDO-TURNER SYNDROME;;TURNER PHENOTYPE WITH NORMAL KARYOTYPE;;PTERYGIUM COLLI SYNDROME, INCLUDED HP:0003251 Male infertility IEA IEA OMIM-CS:GENITOURINARY_INTERNAL GENITALIA, MALE > MALE INFERTILITY IN INDIVIDUALS WITH BILATERAL CRYPTORCHIDISM OMIM:163950 HPO:skoehler Nov 26, 2012
+OMIM:163950 #163950 NOONAN SYNDROME 1; NS1;;NOONAN SYNDROME;;MALE TURNER SYNDROME;;FEMALE PSEUDO-TURNER SYNDROME;;TURNER PHENOTYPE WITH NORMAL KARYOTYPE;;PTERYGIUM COLLI SYNDROME, INCLUDED HP:0000135 Hypogonadism IEA IEA occasional OMIM-CS:GENITOURINARY_INTERNAL GENITALIA, MALE > OCCASIONAL HYPOGONADISM OMIM:163950 HPO:skoehler Nov 26, 2012
+OMIM:163950 #163950 NOONAN SYNDROME 1; NS1;;NOONAN SYNDROME;;MALE TURNER SYNDROME;;FEMALE PSEUDO-TURNER SYNDROME;;TURNER PHENOTYPE WITH NORMAL KARYOTYPE;;PTERYGIUM COLLI SYNDROME, INCLUDED HP:0004322 Short stature HP:0003593 Infantile onset IEA IEA OMIM-CS:GROWTH_HEIGHT > SHORT STATURE (POSTNATAL ONSET) OMIM:163950 HPO:skoehler Nov 26, 2012
+OMIM:163950 #163950 NOONAN SYNDROME 1; NS1;;NOONAN SYNDROME;;MALE TURNER SYNDROME;;FEMALE PSEUDO-TURNER SYNDROME;;TURNER PHENOTYPE WITH NORMAL KARYOTYPE;;PTERYGIUM COLLI SYNDROME, INCLUDED HP:0100769 Synovitis IEA IEA OMIM-CS:SKELETAL_LIMBS > POLYARTICULAR VILLONODULAR SYNOVITIS (KNEES, ANKLES, WRISTS, ELBOWS OMIM:163950 HPO:skoehler Nov 26, 2012
+OMIM:163950 #163950 NOONAN SYNDROME 1; NS1;;NOONAN SYNDROME;;MALE TURNER SYNDROME;;FEMALE PSEUDO-TURNER SYNDROME;;TURNER PHENOTYPE WITH NORMAL KARYOTYPE;;PTERYGIUM COLLI SYNDROME, INCLUDED HP:0030084 Clinodactyly IEA IEA OMIM-CS:SKELETAL_LIMBS > CLINODACTYLY OMIM:163950 HPO:skoehler 21.09.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-250950.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-250950.tab 2015-01-16 10:42:37 UTC (rev 5249)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-250950.tab 2015-01-19 16:22:33 UTC (rev 5250)
@@ -20,3 +20,4 @@
OMIM:250950 3-@METHYLGLUTACONIC ACIDURIA, TYPE I HP:0003812 Phenotypic variability IEA IEA OMIM:250950 HPO Feb 17, 2009
OMIM:250950 #250950 3-@METHYLGLUTACONIC ACIDURIA, TYPE I; MGCA1;;MGA, TYPE I; MGA1;;3-@METHYLGLUTACONYL-CoA HYDRATASE DEFICIENCY;;3-@MG-CoA-HYDRATASE DEFICIENCY HP:0100543 Cognitive impairment IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > COGNITIVE IMPAIRMENT OMIM:250950 HPO:skoehler 04.04.2014
OMIM:250950 #250950 3-@METHYLGLUTACONIC ACIDURIA, TYPE I; MGCA1;;MGA, TYPE I; MGA1;;3-@METHYLGLUTACONYL-CoA HYDRATASE DEFICIENCY;;3-@MG-CoA-HYDRATASE DEFICIENCY HP:0001263 Global developmental delay IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PSYCHOMOTOR RETARDATION (IN SOME PATIENTS) OMIM:250950 HPO:skoehler 04.04.2014
+OMIM:250950 #250950 3-@METHYLGLUTACONIC ACIDURIA, TYPE I; MGCA1;;MGA, TYPE I; MGA1;;3-@METHYLGLUTACONYL-COA HYDRATASE DEFICIENCY;;3-@MG-COA-HYDRATASE DEFICIENCY HP:0003535 3-Methylglutaconic aciduria IEA IEA Disease name contained:deficiency3-methylglutaconic aciduria type 1|3- OMIM:250950 HPO:skoehler 19.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-308200.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-308200.tab 2015-01-16 10:42:37 UTC (rev 5249)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-308200.tab 2015-01-19 16:22:33 UTC (rev 5250)
@@ -1,11 +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:308200 ICHTHYOSIS AND MALE HYPOGONADISMRUD SYNDROME, INCLUDED HP:0000044 Hypogonadotrophic hypogonadism TAS TAS OMIM:308200 HPO:probinson 17.02.2009
-OMIM:308200 ICHTHYOSIS AND MALE HYPOGONADISMRUD SYNDROME, INCLUDED HP:0000458 Anosmia IEA IEA OMIM:308200 HPO 17.02.2009
-OMIM:308200 ICHTHYOSIS AND MALE HYPOGONADISMRUD SYNDROME, INCLUDED HP:0000510 Retinitis pigmentosa IEA IEA OMIM:308200 HPO 17.02.2009
-OMIM:308200 ICHTHYOSIS AND MALE HYPOGONADISMRUD SYNDROME, INCLUDED HP:0001249 Intellectual disability IEA IEA OMIM:308200 HPO 17.02.2009
-OMIM:308200 ICHTHYOSIS AND MALE HYPOGONADISMRUD SYNDROME, INCLUDED HP:0001250 Seizures IEA IEA OMIM:308200 HPO 17.02.2009
-OMIM:308200 ICHTHYOSIS AND MALE HYPOGONADISMRUD SYNDROME, INCLUDED HP:0001417 X-linked inheritance IEA IEA OMIM:308200 HPO 17.02.2009
-OMIM:308200 ICHTHYOSIS AND MALE HYPOGONADISMRUD SYNDROME, INCLUDED HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:308200 HPO 17.02.2009
-OMIM:308200 ICHTHYOSIS AND MALE HYPOGONADISMRUD SYNDROME, INCLUDED HP:0004857 Hyperchromic macrocytic anemia IEA IEA OMIM:308200 HPO 17.02.2009
-OMIM:308200 ICHTHYOSIS AND MALE HYPOGONADISMRUD SYNDROME, INCLUDED HP:0007431 Congenital ichthyosiform erythroderma IEA IEA OMIM:308200 HPO 17.02.2009
-OMIM:308200 ICHTHYOSIS AND MALE HYPOGONADISMRUD SYNDROME, INCLUDED HP:0008192 Gonadotropin deficiency TAS TAS OMIM:308200 HPO:probinson 17.02.2009
+OMIM:308200 ICHTHYOSIS AND MALE HYPOGONADISM;;RUD SYNDROME, INCLUDED HP:0000044 Hypogonadotrophic hypogonadism TAS TAS OMIM:308200 HPO:probinson 17.02.2009
+OMIM:308200 ICHTHYOSIS AND MALE HYPOGONADISM;;RUD SYNDROME, INCLUDED HP:0000458 Anosmia IEA IEA OMIM:308200 HPO 17.02.2009
+OMIM:308200 ICHTHYOSIS AND MALE HYPOGONADISM;;RUD SYNDROME, INCLUDED HP:0000510 Retinitis pigmentosa IEA IEA OMIM:308200 HPO 17.02.2009
+OMIM:308200 ICHTHYOSIS AND MALE HYPOGONADISM;;RUD SYNDROME, INCLUDED HP:0001249 Intellectual disability IEA IEA OMIM:308200 HPO 17.02.2009
+OMIM:308200 ICHTHYOSIS AND MALE HYPOGONADISM;;RUD SYNDROME, INCLUDED HP:0001250 Seizures IEA IEA OMIM:308200 HPO 17.02.2009
+OMIM:308200 ICHTHYOSIS AND MALE HYPOGONADISM;;RUD SYNDROME, INCLUDED HP:0001417 X-linked inheritance IEA IEA OMIM:308200 HPO 17.02.2009
+OMIM:308200 ICHTHYOSIS AND MALE HYPOGONADISM;;RUD SYNDROME, INCLUDED HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:308200 HPO 17.02.2009
+OMIM:308200 ICHTHYOSIS AND MALE HYPOGONADISM;;RUD SYNDROME, INCLUDED HP:0004857 Hyperchromic macrocytic anemia IEA IEA OMIM:308200 HPO 17.02.2009
+OMIM:308200 ICHTHYOSIS AND MALE HYPOGONADISM;;RUD SYNDROME, INCLUDED HP:0007431 Congenital ichthyosiform erythroderma IEA IEA OMIM:308200 HPO 17.02.2009
+OMIM:308200 ICHTHYOSIS AND MALE HYPOGONADISM;;RUD SYNDROME, INCLUDED HP:0008192 Gonadotropin deficiency TAS TAS OMIM:308200 HPO:probinson 17.02.2009
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
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From: <koe...@us...> - 2015-01-16 10:42:44
|
Revision: 5249
http://sourceforge.net/p/obo/svn/5249
Author: koehlers
Date: 2015-01-16 10:42:37 +0000 (Fri, 16 Jan 2015)
Log Message:
-----------
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613688.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613688.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613688.tab 2015-01-16 08:31:36 UTC (rev 5248)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613688.tab 2015-01-16 10:42:37 UTC (rev 5249)
@@ -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:613688 #613688 LONG QT SYNDROME 2; LQT2LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED;;LONG QT SYNDROME 1/2, DIGENIC, INCLUDED; LQT1/2, DIGENIC, INCLUDED;;LONG QT SYNDROME 2/3, DIGENIC, INCLUDED; LQT2/3, DIGENIC, INCLUDED;;LONG QT SYNDROME 2/5, DIGENIC, INCLUDED; LQT2/5, DIGENIC, INCLUDED;;LONG QT SYNDROME 2/9, DIGENIC, INCLUDED; LQT2/9, DIGENIC, INCLUDED HP:0001657 Prolonged QT interval on EKG IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > PROLONGED QT INTERVAL ON EKG OMIM:613688 HPO:skoehler 17.10.2012
-OMIM:613688 #613688 LONG QT SYNDROME 2; LQT2LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED;;LONG QT SYNDROME 1/2, DIGENIC, INCLUDED; LQT1/2, DIGENIC, INCLUDED;;LONG QT SYNDROME 2/3, DIGENIC, INCLUDED; LQT2/3, DIGENIC, INCLUDED;;LONG QT SYNDROME 2/5, DIGENIC, INCLUDED; LQT2/5, DIGENIC, INCLUDED;;LONG QT SYNDROME 2/9, DIGENIC, INCLUDED; LQT2/9, DIGENIC, INCLUDED HP:0001645 Sudden cardiac death IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > SUDDEN CARDIAC DEATH OMIM:613688 HPO:skoehler 17.10.2012
-OMIM:613688 #613688 LONG QT SYNDROME 2; LQT2LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED;;LONG QT SYNDROME 1/2, DIGENIC, INCLUDED; LQT1/2, DIGENIC, INCLUDED;;LONG QT SYNDROME 2/3, DIGENIC, INCLUDED; LQT2/3, DIGENIC, INCLUDED;;LONG QT SYNDROME 2/5, DIGENIC, INCLUDED; LQT2/5, DIGENIC, INCLUDED;;LONG QT SYNDROME 2/9, DIGENIC, INCLUDED; LQT2/9, DIGENIC, INCLUDED HP:0001279 Syncope IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > SYNCOPE OMIM:613688 HPO:skoehler 17.10.2012
-OMIM:613688 #613688 LONG QT SYNDROME 2; LQT2LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED;;LONG QT SYNDROME 1/2, DIGENIC, INCLUDED; LQT1/2, DIGENIC, INCLUDED;;LONG QT SYNDROME 2/3, DIGENIC, INCLUDED; LQT2/3, DIGENIC, INCLUDED;;LONG QT SYNDROME 2/5, DIGENIC, INCLUDED; LQT2/5, DIGENIC, INCLUDED;;LONG QT SYNDROME 2/9, DIGENIC, INCLUDED; LQT2/9, DIGENIC, INCLUDED HP:0001664 Torsade de pointes IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > TORSADE DE POINTES OMIM:613688 HPO:skoehler 17.10.2012
-OMIM:613688 #613688 LONG QT SYNDROME 2; LQT2LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED;;LONG QT SYNDROME 1/2, DIGENIC, INCLUDED; LQT1/2, DIGENIC, INCLUDED;;LONG QT SYNDROME 2/3, DIGENIC, INCLUDED; LQT2/3, DIGENIC, INCLUDED;;LONG QT SYNDROME 2/5, DIGENIC, INCLUDED; LQT2/5, DIGENIC, INCLUDED;;LONG QT SYNDROME 2/9, DIGENIC, INCLUDED; LQT2/9, DIGENIC, INCLUDED HP:0001663 Ventricular fibrillation IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > VENTRICULAR FIBRILLATION OMIM:613688 HPO:skoehler 17.10.2012
-OMIM:613688 #613688 LONG QT SYNDROME 2; LQT2LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED;;LONG QT SYNDROME 1/2, DIGENIC, INCLUDED; LQT1/2, DIGENIC, INCLUDED;;LONG QT SYNDROME 2/3, DIGENIC, INCLUDED; LQT2/3, DIGENIC, INCLUDED;;LONG QT SYNDROME 2/5, DIGENIC, INCLUDED; LQT2/5, DIGENIC, INCLUDED;;LONG QT SYNDROME 2/9, DIGENIC, INCLUDED; LQT2/9, DIGENIC, INCLUDED HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT OMIM:613688 HPO:skoehler 17.10.2012
+OMIM:613688 #613688 LONG QT SYNDROME 2; LQT2;;LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED;;LONG QT SYNDROME 1/2, DIGENIC, INCLUDED; LQT1/2, DIGENIC, INCLUDED;;LONG QT SYNDROME 2/3, DIGENIC, INCLUDED; LQT2/3, DIGENIC, INCLUDED;;LONG QT SYNDROME 2/5, DIGENIC, INCLUDED; LQT2/5, DIGENIC, INCLUDED;;LONG QT SYNDROME 2/9, DIGENIC, INCLUDED; LQT2/9, DIGENIC, INCLUDED HP:0001657 Prolonged QT interval on EKG IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > PROLONGED QT INTERVAL ON EKG OMIM:613688 HPO:skoehler 17.10.2012
+OMIM:613688 #613688 LONG QT SYNDROME 2; LQT2;;LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED;;LONG QT SYNDROME 1/2, DIGENIC, INCLUDED; LQT1/2, DIGENIC, INCLUDED;;LONG QT SYNDROME 2/3, DIGENIC, INCLUDED; LQT2/3, DIGENIC, INCLUDED;;LONG QT SYNDROME 2/5, DIGENIC, INCLUDED; LQT2/5, DIGENIC, INCLUDED;;LONG QT SYNDROME 2/9, DIGENIC, INCLUDED; LQT2/9, DIGENIC, INCLUDED HP:0001645 Sudden cardiac death IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > SUDDEN CARDIAC DEATH OMIM:613688 HPO:skoehler 17.10.2012
+OMIM:613688 #613688 LONG QT SYNDROME 2; LQT2;;LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED;;LONG QT SYNDROME 1/2, DIGENIC, INCLUDED; LQT1/2, DIGENIC, INCLUDED;;LONG QT SYNDROME 2/3, DIGENIC, INCLUDED; LQT2/3, DIGENIC, INCLUDED;;LONG QT SYNDROME 2/5, DIGENIC, INCLUDED; LQT2/5, DIGENIC, INCLUDED;;LONG QT SYNDROME 2/9, DIGENIC, INCLUDED; LQT2/9, DIGENIC, INCLUDED HP:0001279 Syncope IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > SYNCOPE OMIM:613688 HPO:skoehler 17.10.2012
+OMIM:613688 #613688 LONG QT SYNDROME 2; LQT2;;LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED;;LONG QT SYNDROME 1/2, DIGENIC, INCLUDED; LQT1/2, DIGENIC, INCLUDED;;LONG QT SYNDROME 2/3, DIGENIC, INCLUDED; LQT2/3, DIGENIC, INCLUDED;;LONG QT SYNDROME 2/5, DIGENIC, INCLUDED; LQT2/5, DIGENIC, INCLUDED;;LONG QT SYNDROME 2/9, DIGENIC, INCLUDED; LQT2/9, DIGENIC, INCLUDED HP:0001664 Torsade de pointes IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > TORSADE DE POINTES OMIM:613688 HPO:skoehler 17.10.2012
+OMIM:613688 #613688 LONG QT SYNDROME 2; LQT2;;LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED;;LONG QT SYNDROME 1/2, DIGENIC, INCLUDED; LQT1/2, DIGENIC, INCLUDED;;LONG QT SYNDROME 2/3, DIGENIC, INCLUDED; LQT2/3, DIGENIC, INCLUDED;;LONG QT SYNDROME 2/5, DIGENIC, INCLUDED; LQT2/5, DIGENIC, INCLUDED;;LONG QT SYNDROME 2/9, DIGENIC, INCLUDED; LQT2/9, DIGENIC, INCLUDED HP:0001663 Ventricular fibrillation IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > VENTRICULAR FIBRILLATION OMIM:613688 HPO:skoehler 17.10.2012
+OMIM:613688 #613688 LONG QT SYNDROME 2; LQT2;;LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED;;LONG QT SYNDROME 1/2, DIGENIC, INCLUDED; LQT1/2, DIGENIC, INCLUDED;;LONG QT SYNDROME 2/3, DIGENIC, INCLUDED; LQT2/3, DIGENIC, INCLUDED;;LONG QT SYNDROME 2/5, DIGENIC, INCLUDED; LQT2/5, DIGENIC, INCLUDED;;LONG QT SYNDROME 2/9, DIGENIC, INCLUDED; LQT2/9, DIGENIC, INCLUDED HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT OMIM:613688 HPO:skoehler 17.10.2012
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From: <koe...@us...> - 2015-01-16 08:31:44
|
Revision: 5248
http://sourceforge.net/p/obo/svn/5248
Author: koehlers
Date: 2015-01-16 08:31:36 +0000 (Fri, 16 Jan 2015)
Log Message:
-----------
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604536.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604536.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604536.tab 2015-01-14 19:02:03 UTC (rev 5247)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604536.tab 2015-01-16 08:31:36 UTC (rev 5248)
@@ -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:604536 ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME HP:0000968 Ectodermal dysplasia IEA IEA HPO:skoehler 14.01.2015
MIM:604536 ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME HP:0001030 Fragile skin IEA IEA HPO:skoehler 14.01.2015
-
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From: <koe...@us...> - 2015-01-14 19:02:07
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Revision: 5247
http://sourceforge.net/p/obo/svn/5247
Author: koehlers
Date: 2015-01-14 19:02:03 +0000 (Wed, 14 Jan 2015)
Log Message:
-----------
adding multiple ectodermal dysplasia annotations, where title or description matches ectodermal dysplasia
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-129200.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-129400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-129490.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-129500.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-129540.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-129550.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-129900.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-207780.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-218330.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-224750.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-224900.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-225060.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-225280.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-225500.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-227260.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-262020.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-268320.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-273390.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300584.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-305100.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601375.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602401.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612132.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613573.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613576.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613610.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614099.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614378.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614927.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614928.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614929.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614931.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615225.tab
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604536.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-129200.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-129200.tab 2015-01-08 19:09:39 UTC (rev 5246)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-129200.tab 2015-01-14 19:02:03 UTC (rev 5247)
@@ -6,3 +6,5 @@
OMIM:129200 %129200 ADERMATOGLYPHIA WITH CONGENITAL FACIAL MILIA AND ACRAL BLISTERS, DIGITALCONTRACTURES, AND NAIL ABNORMALITIES;;ECTODERMAL DYSPLASIA, ABSENT DERMATOGLYPHIC PATTERN, CHANGES IN NAILS,AND SIMIAN CREASE;;BASAN SYNDROME HP:0010621 Cutaneous syndactyly of toes IEA IEA rare OMIM-CS:SKELETAL_FEET > CUTANEOUS SYNDACTYLY OF TOES (IN SOME PATIENTS) OMIM:129200 HPO:skoehler 18.11.2012
OMIM:129200 %129200 ADERMATOGLYPHIA WITH CONGENITAL FACIAL MILIA AND ACRAL BLISTERS, DIGITALCONTRACTURES, AND NAIL ABNORMALITIES;;ECTODERMAL DYSPLASIA, ABSENT DERMATOGLYPHIC PATTERN, CHANGES IN NAILS,AND SIMIAN CREASE;;BASAN SYNDROME HP:0001371 Flexion contracture IEA IEA OMIM-CS:SKELETAL_FEET > FLEXION CONTRACTURES OF TOES OMIM:129200 HPO:skoehler 22.01.2013
OMIM:129200 %129200 ADERMATOGLYPHIA WITH CONGENITAL FACIAL MILIA AND ACRAL BLISTERS, DIGITALCONTRACTURES, AND NAIL ABNORMALITIES;;ECTODERMAL DYSPLASIA, ABSENT DERMATOGLYPHIC PATTERN, CHANGES IN NAILS,AND SIMIAN CREASE;;BASAN SYNDROME HP:0001371 Flexion contracture IEA IEA OMIM-CS:SKELETAL_HANDS > FLEXION CONTRACTURES OF FINGERS OMIM:129200 HPO:skoehler 22.01.2013
+OMIM:129200 %129200 ADERMATOGLYPHIA WITH CONGENITAL FACIAL MILIA AND ACRAL BLISTERS, DIGITALCONTRACTURES, AND NAIL ABNORMALITIES;;ECTODERMAL DYSPLASIA, ABSENT DERMATOGLYPHIC PATTERN, CHANGES IN NAILS,AND SIMIAN CREASE;;BASAN SYNDROME HP:0000968 Ectodermal dysplasia IEA IEA OMIM:129200 HPO:skoehler 14.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-129400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-129400.tab 2015-01-08 19:09:39 UTC (rev 5246)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-129400.tab 2015-01-14 19:02:03 UTC (rev 5247)
@@ -32,3 +32,5 @@
OMIM:129400 #129400 RAPP-HODGKIN SYNDROME; RHS;;ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATEOROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED HP:0000698 Conical teeth TAS TAS OMIM:129400 HPO:skoehler Jun 13, 2013
OMIM:129400 #129400 RAPP-HODGKIN SYNDROME; RHS;;ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATEOROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED HP:0000691 Microdontia TAS TAS OMIM:129400 HPO:skoehler Aug 10, 2013
OMIM:129400 #129400 RAPP-HODGKIN SYNDROME; RHS;;ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATEOROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED HP:0200141 Small, conical teeth IEA IEA OMIM-CS:HEAD AND NECK_TEETH > SMALL, CONICAL TEETH OMIM:129400 HPO:skoehler 18.08.2013
+OMIM:129400 #129400 RAPP-HODGKIN SYNDROME; RHS;;ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATEOROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED HP:0007476 Anhidrotic ectodermal dysplasia IEA IEA OMIM:129400 HPO:skoehler 14.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-129490.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-129490.tab 2015-01-08 19:09:39 UTC (rev 5246)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-129490.tab 2015-01-14 19:02:03 UTC (rev 5247)
@@ -14,3 +14,5 @@
MIM:129490 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT EDAR, EDARADD HP:0000653 Sparse eyelashes IEA IEA 01.03.2012
OMIM:129490 #129490 ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT;ECTD10A;;ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT; HED HP:0001425 Heterogeneous IEA IEA OMIM-CS:MISCELLANEOUS > GENETIC HETEROGENEITY (X-LINKED FORM 305100) OMIM:129490 HPO:skoehler 22.01.2013
OMIM:129490 #129490 ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT;ECTD10A;;ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT; HED HP:0000958 Dry skin IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > SMOOTH, THIN, DRY SKIN OMIM:129490 HPO:skoehler 22.01.2013
+OMIM:129490 #129490 ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT;ECTD10A;;ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT; HED HP:0000968 Ectodermal dysplasia IEA IEA OMIM:129490 HPO:skoehler 14.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-129500.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-129500.tab 2015-01-08 19:09:39 UTC (rev 5246)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-129500.tab 2015-01-14 19:02:03 UTC (rev 5247)
@@ -25,3 +25,5 @@
OMIM:129500 #129500 CLOUSTON SYNDROME;;ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE; ECTD2;;ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT;;CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA;;ECTODERMAL DYSPLASIA, HIDROTIC, 2, FORMERLY; HED2, FORMERLY HP:0001596 Alopecia IEA IEA OMIM-CS:SKIN, NAILS, HAIR_HAIR > FOCAL ALOPECIA TO COMPLETE BALDNESS (MALES) OMIM:129500 HPO:skoehler 22.01.2013
OMIM:129500 #129500 CLOUSTON SYNDROME;;ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE; ECTD2;;ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT;;CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA;;ECTODERMAL DYSPLASIA, HIDROTIC, 2, FORMERLY; HED2, FORMERLY HP:0001596 Alopecia IEA IEA OMIM-CS:SKIN, NAILS, HAIR_HAIR > TOTAL ALOPECIA (FEMALES) OMIM:129500 HPO:skoehler 22.01.2013
OMIM:129500 #129500 CLOUSTON SYNDROME;;ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE; ECTD2;;ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT;;CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA;;ECTODERMAL DYSPLASIA, HIDROTIC, 2, FORMERLY; HED2, FORMERLY HP:0008404 Nail dystrophy IEA IEA MODIFIER:SEVERE;OMIM-CS:SKIN, NAILS, HAIR_NAILS > ONYCHODYSTROPHY, SEVERE OMIM:129500 HPO:skoehler 06.06.2013
+OMIM:129500 #129500 CLOUSTON SYNDROME;;ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE; ECTD2;;ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT;;CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA;;ECTODERMAL DYSPLASIA, HIDROTIC, 2, FORMERLY; HED2, FORMERLY HP:0000968 Ectodermal dysplasia IEA IEA OMIM:129500 HPO:skoehler 14.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-129540.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-129540.tab 2015-01-08 19:09:39 UTC (rev 5246)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-129540.tab 2015-01-14 19:02:03 UTC (rev 5247)
@@ -18,3 +18,4 @@
OMIM:129540 ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE ANDPREAXIAL POLYDACTYLY OF FEET HP:0010098 Complete duplication of the 1st metatarsal IEA IEA OMIM:129540 HPO 17.02.2009
OMIM:129540 129540 ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE ANDPREAXIAL POLYDACTYLY OF FEET HP:0100258 Preaxial polydactyly IEA IEA OMIM-CS:SKELETAL_FEET > PREAXIAL POLYDACTYLY OMIM:129540 HPO:skoehler 17.10.2012
OMIM:129540 129540 ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE ANDPREAXIAL POLYDACTYLY OF FEET HP:0200086 Thin upper lip IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > THIN UPPER LIP OMIM:129540 HPO:skoehler 04.06.2013
+OMIM:129540 129540 ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE ANDPREAXIAL POLYDACTYLY OF FEET HP:0000968 Ectodermal dysplasia IEA IEA OMIM:129540 HPO:skoehler 14.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-129550.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-129550.tab 2015-01-08 19:09:39 UTC (rev 5246)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-129550.tab 2015-01-14 19:02:03 UTC (rev 5247)
@@ -6,3 +6,5 @@
OMIM:129550 ECTODERMAL DYSPLASIA WITH ADRENAL CYST HP:0002164 Nail dysplasia IEA IEA OMIM:129550 HPO 17.02.2009
OMIM:129550 ECTODERMAL DYSPLASIA WITH ADRENAL CYST HP:0002557 Hypoplastic nipples IEA IEA OMIM:129550 HPO 17.02.2009
OMIM:129550 ECTODERMAL DYSPLASIA WITH ADRENAL CYST HP:0003187 Breast hypoplasia IEA IEA OMIM:129550 HPO 17.02.2009
+OMIM:129550 ECTODERMAL DYSPLASIA WITH ADRENAL CYST HP:0000968 Ectodermal dysplasia IEA IEA OMIM:129550 HPO:skoehler 14.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-129900.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-129900.tab 2015-01-08 19:09:39 UTC (rev 5246)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-129900.tab 2015-01-14 19:02:03 UTC (rev 5247)
@@ -63,3 +63,5 @@
OMIM:129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0001425 Heterogeneous IEA IEA OMIM-CS:MISCELLANEOUS > GENETIC HETEROGENEITY OMIM:129900 HPO:skoehler 17.10.2012
OMIM:129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0002286 Fair hair IEA IEA OMIM-CS:SKIN, NAILS, HAIR_HAIR > LIGHT COLORED HAIR OMIM:129900 HPO:skoehler 17.10.2012
OMIM:129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0007513 Generalized hypopigmentation IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > FAIR SKIN OMIM:129900 HPO:skoehler 17.10.2012
+OMIM:129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000968 Ectodermal dysplasia IEA IEA OMIM:129900 HPO:skoehler 14.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-207780.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-207780.tab 2015-01-08 19:09:39 UTC (rev 5246)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-207780.tab 2015-01-14 19:02:03 UTC (rev 5247)
@@ -3,3 +3,5 @@
OMIM:207780 AREDYLD HP:0000598 Abnormality of the ear IEA IEA OMIM:207780 HPO 17.02.2009
OMIM:207780 AREDYLD HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:207780 HPO 17.02.2009
OMIM:207780 AREDYLD HP:0004528 Generalized hypotrichosis IEA IEA OMIM:207780 HPO 17.02.2009
+OMIM:207780 AREDYLD HP:0000968 Ectodermal dysplasia IEA IEA OMIM:207780 HPO:skoehler 14.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-218330.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-218330.tab 2015-01-08 19:09:39 UTC (rev 5246)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-218330.tab 2015-01-14 19:02:03 UTC (rev 5247)
@@ -53,3 +53,5 @@
OMIM:218330 CRANIOECTODERMAL DYSPLASIA HP:0005567 Renal magnesium wasting TAS TAS OMIM:218330 HPO:probinson Jan 18, 2014
OMIM:218330 #218330 CRANIOECTODERMAL DYSPLASIA 1; CED1;;SENSENBRENNER SYNDROME;;LEVIN SYNDROME I HP:0001249 Intellectual disability IEA IEA NOT NOT OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > NORMAL INTELLIGENCE OMIM:218330 HPO:skoehler 26.11.2014
OMIM:218330 #218330 CRANIOECTODERMAL DYSPLASIA 1; CED1;;SENSENBRENNER SYNDROME;;LEVIN SYNDROME I HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY OMIM:218330 HPO:skoehler 26.11.2014
+OMIM:218330 #218330 CRANIOECTODERMAL DYSPLASIA 1; CED1;;SENSENBRENNER SYNDROME;;LEVIN SYNDROME I HP:0000968 Ectodermal dysplasia IEA IEA OMIM:218330 HPO:skoehler 14.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-224750.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-224750.tab 2015-01-08 19:09:39 UTC (rev 5246)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-224750.tab 2015-01-14 19:02:03 UTC (rev 5247)
@@ -11,4 +11,6 @@
OMIM:224750 SCHOPF-SCHULZ-PASSARGE SYNDROME HP:0002671 Basal cell carcinoma IEA IEA OMIM:224750 HPO Feb 17, 2009
OMIM:224750 SCHOPF-SCHULZ-PASSARGE SYNDROME HP:0002860 Squamous cell carcinoma IEA IEA OMIM:224750 HPO Feb 17, 2009
OMIM:224750 #224750 SCHOPF-SCHULZ-PASSARGE SYNDROME; SSPS;;KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS;;ECCRINE TUMORS WITH ECTODERMAL DYSPLASIA HP:0001816 Thin nail TAS TAS OMIM:224750 HPO:skoehler Aug 11, 2013
-OMIM:224750 #224750 SCHOPF-SCHULZ-PASSARGE SYNDROME; SSPS;;KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS;;ECCRINE TUMORS WITH ECTODERMAL DYSPLASIA HP:0011313 Narrow nail TAS TAS OMIM:224750 HPO:skoehler Aug 11, 2013
+OMIM:224750 #224750 SCHOPF-SCHULZ-PASSARGE SYNDROME; SSPS;;KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS;;ECCRINE TUMORS WITH ECTODERMAL DYSPLASIA HP:0011313 Narrow nail TAS TAS OMIM:224750 HPO:skoehler Aug 11, 2013
+OMIM:224750 #224750 SCHOPF-SCHULZ-PASSARGE SYNDROME; SSPS;;KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS;;ECCRINE TUMORS WITH ECTODERMAL DYSPLASIA HP:0000968 Ectodermal dysplasia TAS TAS OMIM:224750 HPO:skoehler Jan 14, 2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-224900.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-224900.tab 2015-01-08 19:09:39 UTC (rev 5246)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-224900.tab 2015-01-14 19:02:03 UTC (rev 5247)
@@ -17,3 +17,5 @@
MIM:224900 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL RECESSIVE EDAR, EDARADD HP:0000653 Sparse eyelashes PCS PCS MIM:224900 01.03.2012
OMIM:224900 #224900 ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMALRECESSIVE; ECTD10B;;ECTODERMAL DYSPLASIA, HYPOHIDROTIC; HED;;ECTODERMAL DYSPLASIA, ANHIDROTIC; EDA HP:0000970 Anhidrosis IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > ANHIDROSIS OMIM:224900 HPO:skoehler 22.10.2013
OMIM:224900 #224900 ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMALRECESSIVE; ECTD10B;;ECTODERMAL DYSPLASIA, HYPOHIDROTIC; HED;;ECTODERMAL DYSPLASIA, ANHIDROTIC; EDA HP:0012471 Thick vermilion border IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > PROMINENT LIPS OMIM:224900 HPO:skoehler 26.11.2014
+OMIM:224900 #224900 ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMALRECESSIVE; ECTD10B;;ECTODERMAL DYSPLASIA, HYPOHIDROTIC; HED;;ECTODERMAL DYSPLASIA, ANHIDROTIC; EDA HP:0007607 Hypohidrotic ectodermal dysplasia IEA IEA OMIM:224900 HPO:skoehler 14.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-225060.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-225060.tab 2015-01-08 19:09:39 UTC (rev 5246)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-225060.tab 2015-01-14 19:02:03 UTC (rev 5247)
@@ -18,3 +18,5 @@
OMIM:225060 CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME HP:0010621 Cutaneous syndactyly of toes IEA IEA OMIM:225060 HPO 17.02.2009
OMIM:225060 CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME HP:0010719 Abnormality of hair texture IEA IEA OMIM:225060 HPO:skoehler 20.06.2010
OMIM:225060 CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME HP:0000975 Hyperhidrosis IEA IEA NOT NOT OMIM:225060 HPO:skoehler 20.06.2010
+OMIM:225060 CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME HP:0000968 Ectodermal dysplasia IEA IEA OMIM:225060 HPO 14.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-225280.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-225280.tab 2015-01-08 19:09:39 UTC (rev 5246)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-225280.tab 2015-01-14 19:02:03 UTC (rev 5247)
@@ -12,3 +12,5 @@
OMIM:225280 EEM SYNDROME HP:0009473 Joint contractures involving the joints of the hand IEA IEA OMIM:225280 HPO 17.02.2009
OMIM:225280 EEM SYNDROME HP:0000975 Hyperhidrosis IEA IEA NOT NOT OMIM:225280 HPO:skoehler 20.06.2010
OMIM:225280 #225280 EEM SYNDROME;;ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY HP:0012385 Camptodactyly IEA IEA OMIM-CS:SKELETAL_HANDS > CAMPTODACTYLY OMIM:225280 HPO:skoehler 22.10.2013
+OMIM:225280 #225280 EEM SYNDROME;;ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY HP:0000968 Ectodermal dysplasia IEA IEA OMIM:225280 HPO:skoehler 14.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-225500.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-225500.tab 2015-01-08 19:09:39 UTC (rev 5246)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-225500.tab 2015-01-14 19:02:03 UTC (rev 5247)
@@ -24,4 +24,6 @@
OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0003026 Short long bones TAS TAS OMIM:225500 HPO:probinson 08.05.2012
OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0001162 Postaxial polydactyly (hands) TAS TAS OMIM:225500 HPO:probinson 04.06.2012
OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0001830 Postaxial polydactyly of foot TAS TAS OMIM:225500 HPO:probinson 04.06.2012
-OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0001762 Talipes equinovarus TAS TAS OMIM:225500 HPO:probinson 04.06.2012
+OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0001762 Talipes equinovarus TAS TAS OMIM:225500 HPO:probinson 04.06.2012
+OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0000968 Ectodermal dysplasia TAS TAS OMIM:225500 HPO:skoehler 14.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-227260.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-227260.tab 2015-01-08 19:09:39 UTC (rev 5246)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-227260.tab 2015-01-14 19:02:03 UTC (rev 5247)
@@ -7,3 +7,5 @@
OMIM:227260 FACIAL ECTODERMAL DYSPLASIA HP:0002023 Anal atresia IEA IEA OMIM:227260 HPO 17.02.2009
OMIM:227260 FACIAL ECTODERMAL DYSPLASIA HP:0008496 Multiple rows of eyelashes IEA IEA OMIM:227260 HPO 17.02.2009
OMIM:227260 FACIAL ECTODERMAL DYSPLASIA HP:0008509 Aged leonine appearance IEA IEA OMIM:227260 HPO 17.02.2009
+OMIM:227260 FACIAL ECTODERMAL DYSPLASIA HP:0000968 Ectodermal dysplasia IEA IEA OMIM:227260 HPO:skoehler 14.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-262020.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-262020.tab 2015-01-08 19:09:39 UTC (rev 5246)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-262020.tab 2015-01-14 19:02:03 UTC (rev 5247)
@@ -10,3 +10,4 @@
MIM:262020 PILODENTAL DYSPLASIA WITH REFRACTIVE ERRORS HP:0007588 Reticular hyperpigmentation IEA IEA 17.02.2009
MIM:262020 PILODENTAL DYSPLASIA WITH REFRACTIVE ERRORS HP:0002299 Brittle hair PCS PCS MIM:262020 01.03.2012
OMIM:262020 262020 PILODENTAL DYSPLASIA WITH REFRACTIVE ERRORS;;TRICHODENTAL DYSPLASIA WITH HYPEROPIA HP:0000971 Abnormality of the sweat gland IEA IEA NOT NOT OMIM-CS:SKIN, NAILS, HAIR_SKIN > NORMAL SWEATING OMIM:262020 HPO:skoehler 10.06.2013
+MIM:262020 PILODENTAL DYSPLASIA WITH REFRACTIVE ERRORS HP:0000968 Ectodermal dysplasia TAS TAS MIM:262020 14.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-268320.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-268320.tab 2015-01-08 19:09:39 UTC (rev 5246)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-268320.tab 2015-01-14 19:02:03 UTC (rev 5247)
@@ -12,3 +12,4 @@
OMIM:268320 RODRIGUES BLINDNESS HP:0002213 Fine hair IEA IEA OMIM:268320 HPO 17.02.2009
OMIM:268320 RODRIGUES BLINDNESS HP:0004322 Short stature IEA IEA OMIM:268320 HPO 17.02.2009
OMIM:268320 RODRIGUES BLINDNESS HP:0008070 Sparse hair IEA IEA OMIM:268320 HPO 17.02.2009
+OMIM:268320 RODRIGUES BLINDNESS HP:0000968 Ectodermal dysplasia IEA IEA OMIM:268320 HPO:skoehler 14.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-273390.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-273390.tab 2015-01-08 19:09:39 UTC (rev 5246)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-273390.tab 2015-01-14 19:02:03 UTC (rev 5247)
@@ -15,3 +15,5 @@
OMIM:273390 TETRA-AMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT ABNORMALITIES HP:0002714 Downturned corners of mouth IEA IEA OMIM:273390 HPO 17.02.2009
OMIM:273390 TETRA-AMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT ABNORMALITIES HP:0004467 Preauricular pit IEA IEA OMIM:273390 HPO 17.02.2009
OMIM:273390 TETRA-AMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT ABNORMALITIES HP:0007900 Hypoplastic lacrimal duct IEA IEA OMIM:273390 HPO 17.02.2009
+OMIM:273390 TETRA-AMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT ABNORMALITIES HP:0000968 Ectodermal dysplasia IEA IEA OMIM:273390 HPO:skoehler 14.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300584.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300584.tab 2015-01-08 19:09:39 UTC (rev 5246)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300584.tab 2015-01-14 19:02:03 UTC (rev 5247)
@@ -4,4 +4,6 @@
OMIM:300584 #300584 IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA;;IMMUNODEFICIENCY, ISOLATED;;IMMUNODEFICIENCY, PURE IKBKG HP:0002720 IgA deficiency PCS PCS pmid:16532398 HPO:probinson Feb 17, 2013
OMIM:300584 #300584 IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA;;IMMUNODEFICIENCY, ISOLATED;;IMMUNODEFICIENCY, PURE IKBKG HP:0004315 IgG deficiency PCS PCS pmid:16532398 HPO:probinson Feb 17, 2013
OMIM:300584 #300584 IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA;;IMMUNODEFICIENCY, ISOLATED;;IMMUNODEFICIENCY, PURE IKBKG HP:0003496 Increased IgM level PCS PCS pmid:16532398 HPO:probinson Feb 17, 2013
-OMIM:300584 #300584 IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA;;IMMUNODEFICIENCY, ISOLATED;;IMMUNODEFICIENCY, PURE IKBKG HP:0002847 Impaired memory B-cell generation PCS PCS pmid:16532398 HPO:probinson Feb 17, 2013
+OMIM:300584 #300584 IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA;;IMMUNODEFICIENCY, ISOLATED;;IMMUNODEFICIENCY, PURE IKBKG HP:0002847 Impaired memory B-cell generation PCS PCS pmid:16532398 HPO:probinson Feb 17, 2013
+OMIM:300584 #300584 IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA;;IMMUNODEFICIENCY, ISOLATED;;IMMUNODEFICIENCY, PURE IKBKG HP:0007476 Anhidrotic ectodermal dysplasia PCS PCS NOT NOT HPO:skoehler Jan 14, 2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-305100.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-305100.tab 2015-01-08 19:09:39 UTC (rev 5246)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-305100.tab 2015-01-14 19:02:03 UTC (rev 5247)
@@ -39,3 +39,5 @@
MIM:305100 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, X-LINKED MIM:300451 ECTODYSPLASIN A EDA HP:0000963 Thin skin TAS TAS HPO:probinson Aug 7, 2013
MIM:305100 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, X-LINKED MIM:300451 ECTODYSPLASIN A EDA HP:0000977 Soft skin TAS TAS HPO:probinson Aug 7, 2013
OMIM:305100 #305100 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; XHED;;ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED; ECTD1;;XLHED;;ECTODERMAL DYSPLASIA, ANHIDROTIC, X-LINKED; EDA;;EDA1;;ECTODERMAL DYSPLASIA, HYPOHIDROTIC, 1; HED1;;ECTODERMAL DYSPLASIA 1; ED1;;CHRIST-SIEMENS-TOURAINE SYNDROME;;CST SYNDROME HP:0012471 Thick vermilion border IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > PROMINENT LIPS OMIM:305100 HPO:skoehler 26.11.2014
+OMIM:305100 #305100 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; XHED;;ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED; ECTD1;;XLHED;;ECTODERMAL DYSPLASIA, ANHIDROTIC, X-LINKED; EDA;;EDA1;;ECTODERMAL DYSPLASIA, HYPOHIDROTIC, 1; HED1;;ECTODERMAL DYSPLASIA 1; ED1;;CHRIST-SIEMENS-TOURAINE SYNDROME;;CST SYNDROME HP:0007607 Hypohidrotic ectodermal dysplasia IEA IEA OMIM:305100 HPO:skoehler 14.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601375.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601375.tab 2015-01-08 19:09:39 UTC (rev 5246)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601375.tab 2015-01-14 19:02:03 UTC (rev 5247)
@@ -14,3 +14,5 @@
OMIM:601375 601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0200088 Dystrophic thickened nails IEA IEA OMIM-CS:NAILS > DYSTROPHIC THICKENED NAILS OMIM:601375 HPO:skoehler 04.06.2013
OMIM:601375 601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0000971 Abnormality of the sweat gland IEA IEA NOT NOT OMIM-CS:SKIN > NORMAL SWEATING OMIM:601375 HPO:skoehler 10.06.2013
OMIM:601375 601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0000164 Abnormality of the teeth IEA IEA NOT NOT OMIM-CS:TEETH > NORMAL TEETH OMIM:601375 HPO:skoehler 26.11.2014
+OMIM:601375 601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE HP:0007529 Hidrotic ectodermal dysplasia IEA IEA OMIM:601375 HPO:skoehler 14.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602401.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602401.tab 2015-01-08 19:09:39 UTC (rev 5246)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602401.tab 2015-01-14 19:02:03 UTC (rev 5247)
@@ -9,3 +9,5 @@
OMIM:602401 %602401 ECTODERMAL DYSPLASIA 8, HAIR/TOOTH/NAIL TYPE; ECTD8 HP:0100840 Aplasia/Hypoplasia of the eyebrow IEA IEA OMIM-CS:SKIN, NAILS, HAIR_HAIR > SPARSE OR ABSENT EYEBROWS OMIM:602401 HPO:skoehler 05.06.2013
OMIM:602401 %602401 ECTODERMAL DYSPLASIA 8, HAIR/TOOTH/NAIL TYPE; ECTD8 HP:0200102 Sparse/absent eyelashes IEA IEA OMIM-CS:SKIN, NAILS, HAIR_HAIR > SPARSE OR ABSENT EYELASHES OMIM:602401 HPO:skoehler 05.06.2013
OMIM:602401 %602401 ECTODERMAL DYSPLASIA 8, HAIR/TOOTH/NAIL TYPE; ECTD8 HP:0000971 Abnormality of the sweat gland IEA IEA NOT NOT OMIM-CS:SKIN, NAILS, HAIR_SKIN > NORMAL SWEATING OMIM:602401 HPO:skoehler 10.06.2013
+OMIM:602401 %602401 ECTODERMAL DYSPLASIA 8, HAIR/TOOTH/NAIL TYPE; ECTD8 HP:0007436 Hair-nail ectodermal dysplasia IEA IEA OMIM-CS:SKIN, NAILS, HAIR_HAIR > SPARSE OR ABSENT EYELASHES OMIM:602401 HPO:skoehler 14.01.2015
+
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604536.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604536.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604536.tab 2015-01-14 19:02:03 UTC (rev 5247)
@@ -0,0 +1,3 @@
+MIM:604536 ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME HP:0000968 Ectodermal dysplasia IEA IEA HPO:skoehler 14.01.2015
+MIM:604536 ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME HP:0001030 Fragile skin IEA IEA HPO:skoehler 14.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612132.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612132.tab 2015-01-08 19:09:39 UTC (rev 5246)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612132.tab 2015-01-14 19:02:03 UTC (rev 5247)
@@ -12,3 +12,5 @@
OMIM:612132 #612132 ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMALDOMINANT HP:0011120 Saddle nose IEA IEA OMIM-CS:HEAD AND NECK_NOSE > SADDLE NOSE OMIM:612132 HPO:skoehler 17.10.2012
OMIM:612132 #612132 ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMALDOMINANT HP:0002046 Heat intolerance IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > HEAT INTOLERANCE OMIM:612132 HPO:skoehler 17.10.2012
OMIM:612132 #612132 ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMALDOMINANT HP:0011136 Aplasia of the sweat glands IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > LACK OF SWEAT GLANDS OMIM:612132 HPO:skoehler 17.10.2012
+OMIM:612132 #612132 ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMALDOMINANT HP:0007476 Anhidrotic ectodermal dysplasia IEA IEA OMIM:612132 HPO:skoehler 14.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613573.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613573.tab 2015-01-08 19:09:39 UTC (rev 5246)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613573.tab 2015-01-14 19:02:03 UTC (rev 5247)
@@ -8,4 +8,6 @@
OMIM:613573 #613573 ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1; EDSS1 HP:0000698 Conical teeth TAS TAS OMIM:613573 HPO:probinson Mar 12, 2013
OMIM:613573 #613573 ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1; EDSS1 HP:0006297 Hypoplasia of dental enamel TAS TAS OMIM:613573 HPO:probinson Mar 12, 2013
OMIM:613573 #613573 ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1; EDSS1 HP:0001792 Small nail TAS TAS OMIM:613573 HPO:probinson Mar 12, 2013
-OMIM:613573 #613573 ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1; EDSS1 HP:0010765 Palmar hyperkeratosis TAS TAS OMIM:613573 HPO:probinson Mar 12, 2013
+OMIM:613573 #613573 ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1; EDSS1 HP:0010765 Palmar hyperkeratosis TAS TAS OMIM:613573 HPO:probinson Mar 12, 2013
+OMIM:613573 #613573 ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1; EDSS1 HP:0000968 Ectodermal dysplasia TAS TAS OMIM:613573 HPO:skoehler Jan 14, 2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613576.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613576.tab 2015-01-08 19:09:39 UTC (rev 5246)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613576.tab 2015-01-14 19:02:03 UTC (rev 5247)
@@ -10,3 +10,5 @@
OMIM:613576 %613576 ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2; EDSS2 HP:0000219 Thin upper lip vermilion IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > THIN UPPER LIPS OMIM:613576 HPO:skoehler 31.05.2013
OMIM:613576 %613576 ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2; EDSS2 HP:0200086 Thin upper lip IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > THIN UPPER LIPS OMIM:613576 HPO:skoehler 04.06.2013
OMIM:613576 %613576 ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2; EDSS2 HP:0007475 Congenital bullous ichthyosiform erythroderma IEA IEA MODIFIER:MILD;OMIM-CS:SKIN, NAILS, HAIR_SKIN > EPIDERMOLYTIC HYPERKERATOSIS, MILD OMIM:613576 HPO:skoehler 06.06.2013
+OMIM:613576 %613576 ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2; EDSS2 HP:0000968 Ectodermal dysplasia IEA IEA OMIM:613576 HPO:skoehler 14.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613610.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613610.tab 2015-01-08 19:09:39 UTC (rev 5246)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613610.tab 2015-01-14 19:02:03 UTC (rev 5247)
@@ -22,3 +22,5 @@
OMIM:613610 #613610 CRANIOECTODERMAL DYSPLASIA 2; CED2 HP:0008070 Sparse hair IEA IEA OMIM-CS:SKIN, NAILS, HAIR_HAIR > SPARSE HAIR OMIM:613610 HPO:skoehler 17.10.2012
OMIM:613610 #613610 CRANIOECTODERMAL DYSPLASIA 2; CED2 HP:0001249 Intellectual disability IEA IEA NOT NOT OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > NORMAL INTELLIGENCE OMIM:613610 HPO:skoehler 26.11.2014
OMIM:613610 #613610 CRANIOECTODERMAL DYSPLASIA 2; CED2 HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY OMIM:613610 HPO:skoehler 26.11.2014
+OMIM:613610 #613610 CRANIOECTODERMAL DYSPLASIA 2; CED2 HP:0000968 Ectodermal dysplasia IEA IEA OMIM:613610 HPO:skoehler 14.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614099.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614099.tab 2015-01-08 19:09:39 UTC (rev 5246)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614099.tab 2015-01-14 19:02:03 UTC (rev 5247)
@@ -23,3 +23,5 @@
OMIM:614099 #614099 CRANIOECTODERMAL DYSPLASIA 3; CED3 HP:0001821 Broad nail TAS TAS OMIM:614099 HPO:skoehler Aug 10, 2013
OMIM:614099 #614099 CRANIOECTODERMAL DYSPLASIA 3; CED3 HP:0001799 Short nail TAS TAS OMIM:614099 HPO:skoehler Aug 10, 2013
OMIM:614099 #614099 CRANIOECTODERMAL DYSPLASIA 3; CED3 HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY OMIM:614099 HPO:skoehler 26.11.2014
+OMIM:614099 #614099 CRANIOECTODERMAL DYSPLASIA 3; CED3 HP:0000968 Ectodermal dysplasia IEA IEA OMIM:614099 HPO:skoehler 14.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614378.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614378.tab 2015-01-08 19:09:39 UTC (rev 5246)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614378.tab 2015-01-14 19:02:03 UTC (rev 5247)
@@ -23,3 +23,5 @@
OMIM:614378 #614378 CRANIOECTODERMAL DYSPLASIA 4; CED4 HP:0010174 Broad phalanx of the toes TAS TAS OMIM:614378 HPO:probinson Apr 7, 2013
OMIM:614378 #614378 CRANIOECTODERMAL DYSPLASIA 4; CED4 HP:0003774 End stage renal disease IEA IEA rare OMIM-CS:GENITOURINARY_KIDNEYS > RENAL FAILURE, ENDSTAGE (IN SOME PATIENTS) OMIM:614378 HPO:skoehler 29.05.2013
OMIM:614378 #614378 CRANIOECTODERMAL DYSPLASIA 4; CED4 HP:0000411 Protruding ear IEA IEA rare OMIM-CS:HEAD AND NECK_EARS > PROTRUDING EARS (IN SOME PATIENTS) OMIM:614378 HPO:skoehler 31.05.2013
+OMIM:614378 #614378 CRANIOECTODERMAL DYSPLASIA 4; CED4 HP:0000968 Ectodermal dysplasia IEA IEA OMIM:614378 HPO:skoehler 14.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614927.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614927.tab 2015-01-08 19:09:39 UTC (rev 5246)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614927.tab 2015-01-14 19:02:03 UTC (rev 5247)
@@ -3,3 +3,5 @@
OMIM:614927 %614927 ECTODERMAL DYSPLASIA 5, HAIR/NAIL TYPE; ECTD5 HP:0002209 Sparse scalp hair IEA IEA OMIM-CS:SKIN, NAILS, HAIR_HAIR > THIN SCALP HAIR OMIM:614927 HPO:skoehler 16.11.2012
OMIM:614927 %614927 ECTODERMAL DYSPLASIA 5, HAIR/NAIL TYPE; ECTD5 HP:0008391 Dystrophic fingernails IEA IEA OMIM-CS:SKIN, NAILS, HAIR_NAILS > DYSTROPHIC FINGERNAILS OMIM:614927 HPO:skoehler 16.11.2012
OMIM:614927 %614927 ECTODERMAL DYSPLASIA 5, HAIR/NAIL TYPE; ECTD5 HP:0001802 Absent toenails IEA IEA OMIM-CS:SKIN, NAILS, HAIR_NAILS > ABSENT TOENAILS (ANONYCHIA) OMIM:614927 HPO:skoehler 05.06.2013
+OMIM:614927 %614927 ECTODERMAL DYSPLASIA 5, HAIR/NAIL TYPE; ECTD5 HP:0007436 Hair-nail ectodermal dysplasia IEA IEA OMIM:614927 HPO:skoehler 14.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614928.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614928.tab 2015-01-08 19:09:39 UTC (rev 5246)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614928.tab 2015-01-14 19:02:03 UTC (rev 5247)
@@ -2,3 +2,5 @@
OMIM:614928 %614928 ECTODERMAL DYSPLASIA 6, HAIR/NAIL TYPE; ECTD6 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:614928 HPO:skoehler 16.11.2012
OMIM:614928 %614928 ECTODERMAL DYSPLASIA 6, HAIR/NAIL TYPE; ECTD6 HP:0001810 Dystrophic toenails IEA IEA OMIM-CS:SKIN, NAILS, HAIR_NAILS > DYSTROPHIC TOENAILS OMIM:614928 HPO:skoehler 16.11.2012
OMIM:614928 %614928 ECTODERMAL DYSPLASIA 6, HAIR/NAIL TYPE; ECTD6 HP:0012746 Thin toenail IEA IEA OMIM-CS:SKIN, NAILS, HAIR_NAILS > THIN TOENAILS OMIM:614928 HPO:skoehler 04.04.2014
+OMIM:614928 %614928 ECTODERMAL DYSPLASIA 6, HAIR/NAIL TYPE; ECTD6 HP:0007436 Hair-nail ectodermal dysplasia IEA IEA OMIM-Title OMIM:614928 HPO:skoehler 14.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614929.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614929.tab 2015-01-08 19:09:39 UTC (rev 5246)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614929.tab 2015-01-14 19:02:03 UTC (rev 5247)
@@ -10,3 +10,5 @@
OMIM:614929 %614929 ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE; ECTD7 HP:0000971 Abnormality of the sweat gland IEA IEA NOT NOT OMIM-CS:SKIN, NAILS, HAIR_SKIN > NORMAL SWEATING OMIM:614929 HPO:skoehler 10.06.2013
OMIM:614929 #614929 ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE; ECTD7 HP:0000164 Abnormality of the teeth IEA IEA NOT NOT OMIM-CS:HEAD AND NECK_TEETH > NORMAL TEETH OMIM:614929 HPO:skoehler 26.11.2014
OMIM:614929 #614929 ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE; ECTD7 HP:0000951 Abnormality of the skin IEA IEA NOT NOT OMIM-CS:SKIN, NAILS, HAIR_SKIN > NORMAL SKIN OMIM:614929 HPO:skoehler 27.11.2014
+OMIM:614929 %614929 ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE; ECTD7 HP:0007436 Hair-nail ectodermal dysplasia IEA IEA OMIM:614929 HPO:skoehler 14.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614931.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614931.tab 2015-01-08 19:09:39 UTC (rev 5246)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614931.tab 2015-01-14 19:02:03 UTC (rev 5247)
@@ -4,3 +4,5 @@
OMIM:614931 #614931 ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE; ECTD9 HP:0002164 Nail dysplasia IEA IEA OMIM-CS:SKIN, NAILS, HAIR_NAILS > NAIL DYSTROPHY OMIM:614931 HPO:skoehler Nov 20, 2012
OMIM:614931 #614931 ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE; ECTD9 HP:0001598 Concave nail IEA IEA OMIM-CS:SKIN, NAILS, HAIR_NAILS > KOILONYCHIA (SPOON NAILS) OMIM:614931 HPO:skoehler Nov 20, 2012
OMIM:614931 #614931 ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE; ECTD9 HP:0008404 Nail dystrophy IEA IEA OMIM-CS:SKIN, NAILS, HAIR_NAILS > NAIL DYSTROPHY OMIM:614931 HPO:skoehler 03.05.2013
+OMIM:614931 #614931 ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE; ECTD9 HP:0000968 Ectodermal dysplasia IEA IEA OMIM-Title OMIM:614931 HPO:skoehler 14.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615225.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615225.tab 2015-01-08 19:09:39 UTC (rev 5246)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615225.tab 2015-01-14 19:02:03 UTC (rev 5247)
@@ -7,3 +7,5 @@
OMIM:615225 #615225 CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA; CIDED HP:0008404 Nail dystrophy IEA IEA rare OMIM-CS:SKIN, NAILS, HAIR_NAILS > DYSTROPHIC NAILS (IN SOME PATIENTS) OMIM:615225 HPO:skoehler 06.06.2013
OMIM:615225 #615225 CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA; CIDED HP:0000982 Palmoplantar keratoderma IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > PALMOPLANTAR KERATODERMA OMIM:615225 HPO:skoehler 06.06.2013
OMIM:615225 #615225 CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA; CIDED HP:0011496 Corneal neovascularization IEA IEA OMIM-CS:HEAD AND NECK_EYES > CORNEAL NEOVASCULARIZATION OMIM:615225 HPO:skoehler 22.10.2013
+OMIM:615225 #615225 CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA; CIDED HP:0000968 Ectodermal dysplasia IEA IEA OMIM:615225 HPO:skoehler 14.01.2015
+
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <cmu...@us...> - 2015-01-08 19:09:43
|
Revision: 5246
http://sourceforge.net/p/obo/svn/5246
Author: cmungall
Date: 2015-01-08 19:09:39 +0000 (Thu, 08 Jan 2015)
Log Message:
-----------
new
Added Paths:
-----------
uberon/trunk/homology.owl
Added: uberon/trunk/homology.owl
===================================================================
--- uberon/trunk/homology.owl (rev 0)
+++ uberon/trunk/homology.owl 2015-01-08 19:09:39 UTC (rev 5246)
@@ -0,0 +1,46718 @@
+<?xml version="1.0"?>
+<rdf:RDF xmlns="http://purl.obolibrary.org/obo/uberon/homology.owl#"
+ xml:base="http://purl.obolibrary.org/obo/uberon/homology.owl"
+ xmlns:obo="http://purl.obolibrary.org/obo/"
+ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#"
+ xmlns:terms="http://purl.org/dc/terms/"
+ xmlns:owl="http://www.w3.org/2002/07/owl#"
+ xmlns:xsd="http://www.w3.org/2001/XMLSchema#"
+ xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#"
+ xmlns:x="http://x.org/">
+ <owl:Ontology rdf:about="http://purl.obolibrary.org/obo/uberon/homology.owl"/>
+
+
+
+ <!--
+ ///////////////////////////////////////////////////////////////////////////////////////
+ //
+ // Annotation properties
+ //
+ ///////////////////////////////////////////////////////////////////////////////////////
+ -->
+
+
+
+
+ <!-- http://purl.obolibrary.org/obo/RO_0002162 -->
+
+ <owl:AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/RO_0002162"/>
+
+
+
+ <!-- http://purl.org/dc/terms/description -->
+
+ <owl:AnnotationProperty rdf:about="http://purl.org/dc/terms/description"/>
+
+
+
+ <!-- http://purl.org/dc/terms/isAbout -->
+
+ <owl:AnnotationProperty rdf:about="http://purl.org/dc/terms/isAbout"/>
+
+
+
+ <!-- http://purl.org/dc/terms/publication -->
+
+ <owl:AnnotationProperty rdf:about="http://purl.org/dc/terms/publication"/>
+
+
+
+ <!-- http://purl.org/dc/terms/source -->
+
+ <owl:AnnotationProperty rdf:about="http://purl.org/dc/terms/source"/>
+
+
+
+ <!-- http://purl.org/dc/terms/title -->
+
+ <owl:AnnotationProperty rdf:about="http://purl.org/dc/terms/title"/>
+
+
+
+ <!-- http://x.org/foo -->
+
+ <owl:AnnotationProperty rdf:about="http://x.org/foo"/>
+
+
+
+ <!--
+ ///////////////////////////////////////////////////////////////////////////////////////
+ //
+ // Object Properties
+ //
+ ///////////////////////////////////////////////////////////////////////////////////////
+ -->
+
+
+
+
+ <!-- http://purl.obolibrary.org/obo/RO_HOM0000007 -->
+
+ <owl:ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+
+
+
+ <!--
+ ///////////////////////////////////////////////////////////////////////////////////////
+ //
+ // Classes
+ //
+ ///////////////////////////////////////////////////////////////////////////////////////
+ -->
+
+
+
+
+ <!-- FBbt:00000123 -->
+
+ <owl:Class rdf:about="FBbt:00000123">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/CL_0000000 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/CL_0000000">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/CL_0000015 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/CL_0000015">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/CL_0000021 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/CL_0000021">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/CL_0000057 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/CL_0000057">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/CL_0000064 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/CL_0000064">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/CL_0000066 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/CL_0000066">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/CL_0000084 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/CL_0000084">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/CL_0000100 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/CL_0000100">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/CL_0000148 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/CL_0000148">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/CL_0000178 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/CL_0000178">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/CL_0000216 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/CL_0000216">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/CL_0000353 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/CL_0000353">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/CL_0000362 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/CL_0000362">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/CL_0000365 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/CL_0000365">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/CL_0000408 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/CL_0000408">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/CL_0000540 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/CL_0000540">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/CL_0000542 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/CL_0000542">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/CL_0000586 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/CL_0000586">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/CL_0000675 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/CL_0000675">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/HOM_0000007 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/HOM_0000007"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/NCBITaxon_117571 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/NCBITaxon_117571"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/NCBITaxon_1294634 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/NCBITaxon_1294634"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/NCBITaxon_1338369 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/NCBITaxon_1338369"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/NCBITaxon_2759 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/NCBITaxon_2759"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/NCBITaxon_314146 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/NCBITaxon_314146"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/NCBITaxon_32440 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/NCBITaxon_32440"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/NCBITaxon_32523 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/NCBITaxon_32523"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/NCBITaxon_32524 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/NCBITaxon_32524"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/NCBITaxon_32525 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/NCBITaxon_32525"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/NCBITaxon_32561 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/NCBITaxon_32561"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/NCBITaxon_33208 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/NCBITaxon_33208"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/NCBITaxon_33213 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/NCBITaxon_33213"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/NCBITaxon_33511 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/NCBITaxon_33511"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/NCBITaxon_38609 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/NCBITaxon_38609"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/NCBITaxon_40674 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/NCBITaxon_40674"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/NCBITaxon_436491 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/NCBITaxon_436491"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/NCBITaxon_6072 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/NCBITaxon_6072"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/NCBITaxon_6073 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/NCBITaxon_6073"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/NCBITaxon_7711 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/NCBITaxon_7711"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/NCBITaxon_7742 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/NCBITaxon_7742"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/NCBITaxon_7776 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/NCBITaxon_7776"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/NCBITaxon_7777 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/NCBITaxon_7777"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/NCBITaxon_7898 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/NCBITaxon_7898"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/NCBITaxon_8287 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/NCBITaxon_8287"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/NCBITaxon_8292 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/NCBITaxon_8292"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/NCBITaxon_8457 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/NCBITaxon_8457"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/NCBITaxon_8459 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/NCBITaxon_8459"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/NCBITaxon_8492 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/NCBITaxon_8492"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/NCBITaxon_8504 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/NCBITaxon_8504"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/NCBITaxon_8509 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/NCBITaxon_8509"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/NCBITaxon_8782 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/NCBITaxon_8782"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/NCBITaxon_89593 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/NCBITaxon_89593"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/NCBITaxon_9347 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/NCBITaxon_9347"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/NCBITaxon_9443 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/NCBITaxon_9443"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000002 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000002">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000003 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000003">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000006 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000006">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000007 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000007">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000010 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000010">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000013 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000013">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000014 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000014">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000016 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000016">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000017 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000017">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000019 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000019">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000020 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000020">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000029 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000029">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000033 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000033">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000044 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000044">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000045 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000045">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000056 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000056">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000057 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000057">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000059 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000059">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000065 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000065">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000066 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000066">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000068 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000068">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000079 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000079">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000080 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000080">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000081 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000081">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000083 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000083">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000084 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000084">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000086 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000086">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000087 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000087">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000090 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000090">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000100 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000100">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000106 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000106">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000107 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000107">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000109 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000109">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000111 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000111">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000151 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000151">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000152 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000152">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000160 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000160">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000162 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000162">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000164 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000164">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000165 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000165">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000166 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000166">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000167 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000167">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000173 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000173">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000178 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000178">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000203 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000203">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000206 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000206">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000209 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000209">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000210 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000210">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000211 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000211">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000301 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000301">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000305 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000305">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000319 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000319">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000348 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000348">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000358 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000358">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000369 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000369">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000371 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000371">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000375 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000375">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000376 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000376">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000377 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000377">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000395 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000395">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000473 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000473">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000474 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000474">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000478 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000478">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:intersectionOf rdf:resource="http://www.w3.org/1999/02/22-rdf-syntax-ns#nil"/>
+ </owl:Class>
+ </owl:someValuesFrom>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000482 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000482">
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_HOM0000007"/>
+ <owl:someValuesFrom>
+ <owl:Class>
+ <owl:inters...
[truncated message content] |
|
From: <koe...@us...> - 2015-01-07 16:33:36
|
Revision: 5245
http://sourceforge.net/p/obo/svn/5245
Author: koehlers
Date: 2015-01-07 16:33:34 +0000 (Wed, 07 Jan 2015)
Log Message:
-----------
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/misc/makefile
Modified: phenotype-commons/annotations/OMIM/by-disease/misc/makefile
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/misc/makefile 2015-01-07 16:28:25 UTC (rev 5244)
+++ phenotype-commons/annotations/OMIM/by-disease/misc/makefile 2015-01-07 16:33:34 UTC (rev 5245)
@@ -5,7 +5,7 @@
# Date : 2012-09-24
-NOW := $(shell date +"%m-%d-%Y %H:%M")
+NOW := $(shell date +"%Y-%m-%d %H:%M")
# the programs being called
GENERATE_ANNOTATIONFILE=java -Xmx1G -jar jarFiles/generateAnnotationFile.jar
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <koe...@us...> - 2015-01-07 16:28:32
|
Revision: 5244
http://sourceforge.net/p/obo/svn/5244
Author: koehlers
Date: 2015-01-07 16:28:25 +0000 (Wed, 07 Jan 2015)
Log Message:
-----------
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/misc/makefile
Modified: phenotype-commons/annotations/OMIM/by-disease/misc/makefile
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/misc/makefile 2015-01-07 16:16:46 UTC (rev 5243)
+++ phenotype-commons/annotations/OMIM/by-disease/misc/makefile 2015-01-07 16:28:25 UTC (rev 5244)
@@ -5,6 +5,8 @@
# Date : 2012-09-24
+NOW := $(shell date +"%m-%d-%Y %H:%M")
+
# the programs being called
GENERATE_ANNOTATIONFILE=java -Xmx1G -jar jarFiles/generateAnnotationFile.jar
@@ -43,8 +45,7 @@
generate-annotation-file:
$(GENERATE_ANNOTATIONFILE) --orphadata "$(EXTERNAL_ORPHANET)" --sign-mapping "$(ORPHANET_MAPPING)/onet_hpo.tsv" --out-folder "." --hpo_ontology "$(HPO_FOLDER)" --berkeley-annotated "../annotated/"
cat phenotype_annotation.tab negative_phenotype_annotation.tab | awk -F'\t' '{print $$14}' | sort | uniq -c | sort -nr > curator-statistics.tab
- NOW=$(date +"%m-%d-%Y %H:%M")
- echo -e "Annotation file generated at:\n$(NOW)" > data_version.txt
+ echo "$(NOW)" > data_version.txt
.PHONY: clean
clean:
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <koe...@us...> - 2015-01-07 16:16:53
|
Revision: 5243
http://sourceforge.net/p/obo/svn/5243
Author: koehlers
Date: 2015-01-07 16:16:46 +0000 (Wed, 07 Jan 2015)
Log Message:
-----------
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/misc/makefile
Modified: phenotype-commons/annotations/OMIM/by-disease/misc/makefile
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/misc/makefile 2015-01-07 15:26:53 UTC (rev 5242)
+++ phenotype-commons/annotations/OMIM/by-disease/misc/makefile 2015-01-07 16:16:46 UTC (rev 5243)
@@ -44,7 +44,7 @@
$(GENERATE_ANNOTATIONFILE) --orphadata "$(EXTERNAL_ORPHANET)" --sign-mapping "$(ORPHANET_MAPPING)/onet_hpo.tsv" --out-folder "." --hpo_ontology "$(HPO_FOLDER)" --berkeley-annotated "../annotated/"
cat phenotype_annotation.tab negative_phenotype_annotation.tab | awk -F'\t' '{print $$14}' | sort | uniq -c | sort -nr > curator-statistics.tab
NOW=$(date +"%m-%d-%Y %H:%M")
- echo -e "Annotation file generated at:\n$NOW" > data_version.txt
+ echo -e "Annotation file generated at:\n$(NOW)" > data_version.txt
.PHONY: clean
clean:
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <koe...@us...> - 2015-01-07 15:26:55
|
Revision: 5242
http://sourceforge.net/p/obo/svn/5242
Author: koehlers
Date: 2015-01-07 15:26:53 +0000 (Wed, 07 Jan 2015)
Log Message:
-----------
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/misc/makefile
Modified: phenotype-commons/annotations/OMIM/by-disease/misc/makefile
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/misc/makefile 2015-01-07 14:52:19 UTC (rev 5241)
+++ phenotype-commons/annotations/OMIM/by-disease/misc/makefile 2015-01-07 15:26:53 UTC (rev 5242)
@@ -43,7 +43,7 @@
generate-annotation-file:
$(GENERATE_ANNOTATIONFILE) --orphadata "$(EXTERNAL_ORPHANET)" --sign-mapping "$(ORPHANET_MAPPING)/onet_hpo.tsv" --out-folder "." --hpo_ontology "$(HPO_FOLDER)" --berkeley-annotated "../annotated/"
cat phenotype_annotation.tab negative_phenotype_annotation.tab | awk -F'\t' '{print $$14}' | sort | uniq -c | sort -nr > curator-statistics.tab
- NOW=$(date +"%m-%d-%Y "%H:%M"")
+ NOW=$(date +"%m-%d-%Y %H:%M")
echo -e "Annotation file generated at:\n$NOW" > data_version.txt
.PHONY: clean
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <koe...@us...> - 2015-01-07 14:52:23
|
Revision: 5241
http://sourceforge.net/p/obo/svn/5241
Author: koehlers
Date: 2015-01-07 14:52:19 +0000 (Wed, 07 Jan 2015)
Log Message:
-----------
annotation updates
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-103200.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-112240.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-113700.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-124000.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-129510.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-134610.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137440.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-141750.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-158580.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-161800.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-168601.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-172700.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-182290.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-183600.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-186000.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-200610.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-200980.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-211530.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-213600.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-215045.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-216820.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-233910.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-234200.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-234500.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-236792.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-238970.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-251000.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-251100.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-251110.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-253240.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-255995.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-256030.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-256600.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-256850.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-258650.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-259610.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-260000.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-260600.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-261630.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-261640.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-269840.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-269921.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-273395.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-275350.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-277400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300475.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300905.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-304790.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-308240.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-312863.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600092.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600627.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600643.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600803.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600886.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601042.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601338.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603516.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604802.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604928.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-605259.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607454.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607483.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607485.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607595.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607641.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608133.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608768.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609325.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610181.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612016.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612067.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612079.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612199.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612726.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613728.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614044.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614162.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614204.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614470.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614557.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614558.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614561.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614665.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614678.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614727.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614833.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615065.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615207.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615249.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615361.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615419.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615468.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615559.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615924.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616001.tab
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300934.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616007.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616025.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616026.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616032.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616034.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616052.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616053.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616094.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616098.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616100.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616106.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616108.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616111.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616113.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616115.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616116.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616118.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616126.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616127.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616138.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616139.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616140.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616145.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-103200.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-103200.tab 2015-01-07 14:44:21 UTC (rev 5240)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-103200.tab 2015-01-07 14:52:19 UTC (rev 5241)
@@ -3,3 +3,9 @@
OMIM:103200 ADIPOSIS DOLOROSA HP:0001513 Obesity IEA IEA OMIM:103200 HPO 17.02.2009
OMIM:103200 ADIPOSIS DOLOROSA HP:0003596 Middle age onset IEA IEA OMIM:103200 HPO 17.02.2009
OMIM:103200 ADIPOSIS DOLOROSA HP:0007596 Painful trunk and limb subcutaneous lipomas IEA IEA OMIM:103200 HPO 17.02.2009
+OMIM:103200 %103200 ADIPOSIS DOLOROSA;;DERCUM DISEASE HP:0002019 Constipation IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > CONSTIPATION OMIM:103200 HPO:skoehler 04.01.2015
+OMIM:103200 %103200 ADIPOSIS DOLOROSA;;DERCUM DISEASE HP:0000739 Anxiety IEA IEA OMIM-CS:NEUROLOGIC_BEHAVIORAL/PSYCHIATRIC MANIFESTATIONS > ANXIETY OMIM:103200 HPO:skoehler 04.01.2015
+OMIM:103200 %103200 ADIPOSIS DOLOROSA;;DERCUM DISEASE HP:0012532 Chronic pain IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CHRONIC PAIN OMIM:103200 HPO:skoehler 04.01.2015
+OMIM:103200 %103200 ADIPOSIS DOLOROSA;;DERCUM DISEASE HP:0012378 Fatigue IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > FATIGUE OMIM:103200 HPO:skoehler 04.01.2015
+OMIM:103200 %103200 ADIPOSIS DOLOROSA;;DERCUM DISEASE HP:0002360 Sleep disturbance IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SLEEP DISTURBANCES OMIM:103200 HPO:skoehler 04.01.2015
+OMIM:103200 %103200 ADIPOSIS DOLOROSA;;DERCUM DISEASE HP:0002829 Arthralgia IEA IEA OMIM-CS:SKELETAL > ARTHRALGIA OMIM:103200 HPO:skoehler 04.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-112240.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-112240.tab 2015-01-07 14:44:21 UTC (rev 5240)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-112240.tab 2015-01-07 14:52:19 UTC (rev 5241)
@@ -5,3 +5,4 @@
OMIM:112240 BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS,AND DISTINCTIVE FACIAL FEATURES HP:0002007 Frontal bossing IEA IEA OMIM:112240 HPO Feb 17, 2009
OMIM:112240 BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS,AND DISTINCTIVE FACIAL FEATURES HP:0002757 Recurrent fractures TAS TAS OMIM:112240 HPO:skoehler Feb 17, 2009
OMIM:112240 BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS,AND DISTINCTIVE FACIAL FEATURES HP:0005472 Orbital craniosynostosis IEA IEA OMIM:112240 HPO Feb 17, 2009
+OMIM:112240 112240 BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS,AND DISTINCTIVE FACIAL FEATURES;;COLE-CARPENTER SYNDROME HP:0001263 Global developmental delay IEA IEA NOT NOT OMIM-CS:NEURO > NORMAL INTELLECTUAL DEVELOPMENT OMIM:112240 HPO:skoehler 04.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-113700.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-113700.tab 2015-01-07 14:44:21 UTC (rev 5240)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-113700.tab 2015-01-07 14:52:19 UTC (rev 5241)
@@ -4,3 +4,4 @@
OMIM:113700 113700 BREASTS AND NIPPLES, ABSENCE OF;;AMASTIAATHELIA, INCLUDED;;AMAZIA, INCLUDED HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT VS. X-LINKED OMIM:113700 HPO:skoehler Nov 16, 2012
OMIM:113700 113700 BREASTS AND NIPPLES, ABSENCE OF;;AMASTIAATHELIA, INCLUDED;;AMAZIA, INCLUDED HP:0001417 X-linked inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT VS. X-LINKED OMIM:113700 HPO:skoehler Nov 17, 2012
OMIM:113700 %113700 BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 1; BNAH1;;AMASTIA;;ATHELIA;;AMAZIA HP:0000453 Choanal atresia IEA IEA rare OMIM-CS:HEAD AND NECK_NOSE > CHOANAL ATRESIA (IN SOME PATIENTS) OMIM:113700 HPO:skoehler 21.09.2014
+OMIM:113700 %113700 BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 1; BNAH1;;AMASTIA;;ATHELIA;;AMAZIA HP:0002561 Absent nipple IEA IEA OMIM-CS:CHEST_EXTERNAL FEATURES > ATHELIA OMIM:113700 HPO:skoehler 04.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-124000.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-124000.tab 2015-01-07 14:44:21 UTC (rev 5240)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-124000.tab 2015-01-07 14:52:19 UTC (rev 5241)
@@ -40,3 +40,4 @@
OMIM:124000 #124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1; MC3DN1 HP:0003593 Infantile onset IEA IEA OMIM-CS:MISCELLANEOUS > ONSET IN INFANCY OMIM:124000 HPO:skoehler 03.05.2013
OMIM:124000 #124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1; MC3DN1 HP:0001347 Hyperreflexia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPERREFLEXIA OMIM:124000 HPO:skoehler 03.05.2013
OMIM:124000 #124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1; MC3DN1 HP:0001257 Spasticity IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SPASTICITY OMIM:124000 HPO:skoehler 03.05.2013
+OMIM:124000 #124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1; MC3DN1 HP:0030151 Cholangitis IEA IEA OMIM-CS:ABDOMEN_LIVER > CHOLANGITIS OMIM:124000 HPO:skoehler 04.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-129510.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-129510.tab 2015-01-07 14:44:21 UTC (rev 5240)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-129510.tab 2015-01-07 14:52:19 UTC (rev 5241)
@@ -7,3 +7,4 @@
OMIM:129510 ECTODERMAL DYSPLASIA, TRICHOODONTOONYCHIAL TYPEAMASTIA, INCLUDED HP:0007521 Irregular hyperpigmentation of back IEA IEA OMIM:129510 HPO 17.02.2009
OMIM:129510 ECTODERMAL DYSPLASIA, TRICHOODONTOONYCHIAL TYPEAMASTIA, INCLUDED HP:0008587 Mild neurosensory hearing impairment IEA IEA OMIM:129510 HPO 17.02.2009
OMIM:129510 ECTODERMAL DYSPLASIA, TRICHOODONTOONYCHIAL TYPEAMASTIA, INCLUDED HP:0000975 Hyperhidrosis IEA IEA NOT NOT OMIM:129510 HPO:skoehler 20.06.2010
+OMIM:129510 129510 ECTODERMAL DYSPLASIA, TRICHOODONTOONYCHIAL TYPE HP:0002561 Absent nipple IEA IEA OMIM-CS:THORAX > ATHELIA OMIM:129510 HPO:skoehler 04.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-134610.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-134610.tab 2015-01-07 14:44:21 UTC (rev 5240)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-134610.tab 2015-01-07 14:52:19 UTC (rev 5241)
@@ -11,3 +11,4 @@
OMIM:134610 FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT HP:0002829 Arthralgia IEA IEA OMIM:134610 HPO 17.02.2009
OMIM:134610 FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT HP:0003621 Juvenile onset IEA IEA OMIM:134610 HPO 17.02.2009
OMIM:134610 FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT HP:0005764 Polyarticular arthritis IEA IEA OMIM:134610 HPO 17.02.2009
+OMIM:134610 #134610 FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT;;FMF, AUTOSOMAL DOMINANT HP:0100749 Chest pain IEA IEA OMIM-CS:RESPIRATORY_LUNG > THORACIC PAIN OMIM:134610 HPO:skoehler 04.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137440.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137440.tab 2015-01-07 14:44:21 UTC (rev 5240)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137440.tab 2015-01-07 14:52:19 UTC (rev 5241)
@@ -28,3 +28,4 @@
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 Jan 28, 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:0030223 Perseveration IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PERSEVERATION OMIM:137440 HPO:skoehler 04.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-141750.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-141750.tab 2015-01-07 14:44:21 UTC (rev 5240)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-141750.tab 2015-01-07 14:52:19 UTC (rev 5241)
@@ -36,3 +36,4 @@
OMIM:141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, DELETION-TYPE HP:0011903 Hemoglobin H TAS TAS OMIM:141750 HPO:probinson 03.06.2012
OMIM:141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, DELETION-TYPE HP:0011907 Reduced alpha/beta synthesis ratio TAS TAS OMIM:141750 HPO:probinson 03.06.2012
OMIM:141750 #141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED;;ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, DELETION-TYPE;;ATR-16 SYNDROME;;ATR, DELETION-TYPE;;HEMOGLOBIN H-RELATED MENTAL RETARDATION; HBHR;;MENTAL RETARDATION WITH HEMOGLOBIN H;;CHROMOSOME 16p DELETION SYNDROME HP:0003812 Phenotypic variability IEA IEA OMIM-CS:MISCELLANEOUS > HIGHLY VARIABLE PHENOTYPE OMIM:141750 HPO:skoehler 17.10.2012
+OMIM:141750 #141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED;;ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, DELETION-TYPE;;ATR-16 SYNDROME;;ATR, DELETION-TYPE;;HEMOGLOBIN H-RELATED MENTAL RETARDATION; HBHR;;MENTAL RETARDATION WITH HEMOGLOBIN H;;CHROMOSOME 16p DELETION SYNDROME HP:0040133 Abnormal serum ferritin IEA IEA NOT NOT OMIM-CS:LABORATORY ABNORMALITIES > NORMAL SERUM FERRITIN OMIM:141750 HPO:skoehler 04.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-158580.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-158580.tab 2015-01-07 14:44:21 UTC (rev 5240)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-158580.tab 2015-01-07 14:52:19 UTC (rev 5241)
@@ -9,3 +9,4 @@
OMIM:158580 #158580 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA; HMN7A;;HMN VIIA;;NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA;;DHMN7A;;DHMNVP;;SPINAL MUSCULAR ATROPHY, DISTAL, WITH VOCAL CORD PARALYSIS;;HARPER-YOUNG MYOPATHY HP:0002355 Difficulty walking TAS TAS OMIM:158580 HPO:skoehler Jun 5, 2013
OMIM:158580 #158580 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA; HMN7A;;HMN VIIA;;NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA;;DHMN7A;;DHMNVP;;SPINAL MUSCULAR ATROPHY, DISTAL, WITH VOCAL CORD PARALYSIS;;HARPER-YOUNG MYOPATHY HP:0001337 Tremor TAS TAS rare OMIM:158580 HPO:skoehler Jun 5, 2013
OMIM:158580 #158580 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA; HMN7A;;HMN VIIA;;NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA;;DHMN7A;;DHMNVP;;SPINAL MUSCULAR ATROPHY, DISTAL, WITH VOCAL CORD PARALYSIS;;HARPER-YOUNG MYOPATHY HP:0001761 Pes cavus TAS TAS OMIM:158580 HPO:skoehler Jun 5, 2013
+OMIM:158580 #158580 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA; HMN7A;;HMN VIIA;;NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA;;DHMN7A;;DHMNVP;;SPINAL MUSCULAR ATROPHY, DISTAL, WITH VOCAL CORD PARALYSIS;;HARPER-YOUNG MYOPATHY HP:0040131 Abnormal motor nerve conduction velocity IEA IEA NOT NOT OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > NORMAL MOTOR NERVE CONDUCTION VELOCITY OMIM:158580 HPO:skoehler 04.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-161800.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-161800.tab 2015-01-07 14:44:21 UTC (rev 5240)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-161800.tab 2015-01-07 14:52:19 UTC (rev 5241)
@@ -39,3 +39,5 @@
OMIM:161800 #161800 NEMALINE MYOPATHY 3; NEM3MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, INCLUDED;;NEMALINE MYOPATHY 3, WITH INTRANUCLEAR RODS, INCLUDED;;MYOPATHY, ACTIN, CONGENITAL, WITH CORES, INCLUDED HP:0001347 Hyperreflexia IEA IEA rare OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > HYPERREFLEXIA (UNCOMMON) OMIM:161800 HPO:skoehler Jun 6, 2013
OMIM:161800 NEMALINE MYOPATHY 3 HP:0000156 High-arched palate TAS TAS OMIM:161800 HPO Aug 11, 2013
OMIM:161800 #161800 NEMALINE MYOPATHY 3; NEM3MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, INCLUDED;;NEMALINE MYOPATHY 3, WITH INTRANUCLEAR RODS, INCLUDED;;MYOPATHY, ACTIN, CONGENITAL, WITH CORES, INCLUDED HP:0001644 Dilated cardiomyopathy IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > DILATED CARDIOMYOPATHY (RARE) OMIM:161800 HPO:skoehler 24.08.2014
+OMIM:161800 #161800 NEMALINE MYOPATHY 3; NEM3MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, INCLUDED;;NEMALINE MYOPATHY 3, WITH INTRANUCLEAR RODS, INCLUDED;;MYOPATHY, ACTIN, CONGENITAL, WITH CORES, INCLUDED HP:0010628 Facial palsy IEA IEA OMIM-CS:HEAD AND NECK_FACE > FACIAL MUSCLE WEAKNESS OMIM:161800 HPO:skoehler 04.01.2015
+OMIM:161800 #161800 NEMALINE MYOPATHY 3; NEM3MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, INCLUDED;;NEMALINE MYOPATHY 3, WITH INTRANUCLEAR RODS, INCLUDED;;MYOPATHY, ACTIN, CONGENITAL, WITH CORES, INCLUDED HP:0010628 Facial palsy IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > FACIAL MUSCLE WEAKNESS OMIM:161800 HPO:skoehler 04.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-168601.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-168601.tab 2015-01-07 14:44:21 UTC (rev 5240)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-168601.tab 2015-01-07 14:52:19 UTC (rev 5241)
@@ -1,2 +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:168601 #168601 PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1PARKINSON DISEASE 1, AUTOSOMAL DOMINANT LEWY BODY;;ATYPICAL PARKINSON DISEASE, INCLUDED HP:0001300 Parkinsonism IEA IEA OMIM:168601 HPO:skoehler Jan 9, 2013
+OMIM:168601 #168601 PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1PARKINSON DISEASE 1, AUTOSOMAL DOMINANT LEWY BODY;;ATYPICAL PARKINSON DISEASE, INCLUDED HP:0002015 Dysphagia IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > DYSPHAGIA OMIM:168601 HPO:skoehler 04.01.2015
+OMIM:168601 #168601 PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1PARKINSON DISEASE 1, AUTOSOMAL DOMINANT LEWY BODY;;ATYPICAL PARKINSON DISEASE, INCLUDED HP:0000012 Urinary urgency IEA IEA OMIM-CS:GENITOURINARY_BLADDER > URINARY URGENCY OMIM:168601 HPO:skoehler 04.01.2015
+OMIM:168601 #168601 PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1PARKINSON DISEASE 1, AUTOSOMAL DOMINANT LEWY BODY;;ATYPICAL PARKINSON DISEASE, INCLUDED HP:0002067 Bradykinesia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > BRADYKINESIA OMIM:168601 HPO:skoehler 04.01.2015
+OMIM:168601 #168601 PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1PARKINSON DISEASE 1, AUTOSOMAL DOMINANT LEWY BODY;;ATYPICAL PARKINSON DISEASE, INCLUDED HP:0001268 Mental deterioration IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > COGNITIVE DECLINE OMIM:168601 HPO:skoehler 04.01.2015
+OMIM:168601 #168601 PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1PARKINSON DISEASE 1, AUTOSOMAL DOMINANT LEWY BODY;;ATYPICAL PARKINSON DISEASE, INCLUDED HP:0001260 Dysarthria IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DYSARTHRIA OMIM:168601 HPO:skoehler 04.01.2015
+OMIM:168601 #168601 PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1PARKINSON DISEASE 1, AUTOSOMAL DOMINANT LEWY BODY;;ATYPICAL PARKINSON DISEASE, INCLUDED HP:0001332 Dystonia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DYSTONIA OMIM:168601 HPO:skoehler 04.01.2015
+OMIM:168601 #168601 PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1PARKINSON DISEASE 1, AUTOSOMAL DOMINANT LEWY BODY;;ATYPICAL PARKINSON DISEASE, INCLUDED HP:0001288 Gait disturbance IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > GAIT DISTURBANCES OMIM:168601 HPO:skoehler 04.01.2015
+OMIM:168601 #168601 PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1PARKINSON DISEASE 1, AUTOSOMAL DOMINANT LEWY BODY;;ATYPICAL PARKINSON DISEASE, INCLUDED HP:0002375 Hypokinesia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPOKINESIA OMIM:168601 HPO:skoehler 04.01.2015
+OMIM:168601 #168601 PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1PARKINSON DISEASE 1, AUTOSOMAL DOMINANT LEWY BODY;;ATYPICAL PARKINSON DISEASE, INCLUDED HP:0001336 Myoclonus IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MYOCLONUS OMIM:168601 HPO:skoehler 04.01.2015
+OMIM:168601 #168601 PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1PARKINSON DISEASE 1, AUTOSOMAL DOMINANT LEWY BODY;;ATYPICAL PARKINSON DISEASE, INCLUDED HP:0002172 Postural instability IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > POSTURAL INSTABILITY OMIM:168601 HPO:skoehler 04.01.2015
+OMIM:168601 #168601 PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1PARKINSON DISEASE 1, AUTOSOMAL DOMINANT LEWY BODY;;ATYPICAL PARKINSON DISEASE, INCLUDED HP:0002322 Resting tremor IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > RESTING TREMOR OMIM:168601 HPO:skoehler 04.01.2015
+OMIM:168601 #168601 PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1PARKINSON DISEASE 1, AUTOSOMAL DOMINANT LEWY BODY;;ATYPICAL PARKINSON DISEASE, INCLUDED HP:0002063 Rigidity IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > RIGIDITY OMIM:168601 HPO:skoehler 04.01.2015
+OMIM:168601 #168601 PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1PARKINSON DISEASE 1, AUTOSOMAL DOMINANT LEWY BODY;;ATYPICAL PARKINSON DISEASE, INCLUDED HP:0002362 Shuffling gait IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SHUFFLING GAIT OMIM:168601 HPO:skoehler 04.01.2015
+OMIM:168601 #168601 PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1PARKINSON DISEASE 1, AUTOSOMAL DOMINANT LEWY BODY;;ATYPICAL PARKINSON DISEASE, INCLUDED HP:0002360 Sleep disturbance IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SLEEP DISTURBANCES OMIM:168601 HPO:skoehler 04.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-172700.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-172700.tab 2015-01-07 14:44:21 UTC (rev 5240)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-172700.tab 2015-01-07 14:52:19 UTC (rev 5241)
@@ -16,3 +16,5 @@
OMIM:172700 PICK DISEASE OF BRAIN HP:0002529 Neuronal loss in central nervous system IEA IEA OMIM:172700 HPO 17.02.2009
OMIM:172700 PICK DISEASE OF BRAIN HP:0002591 Polyphagia IEA IEA OMIM:172700 HPO 17.02.2009
OMIM:172700 PICK DISEASE OF BRAIN HP:0010529 Echolalia IEA IEA OMIM:172700 HPO:skoehler 18.06.2010
+OMIM:172700 #172700 PICK DISEASE OF BRAIN;;LOBAR ATROPHY OF BRAIN;;DEMENTIA WITH LOBAR ATROPHY AND NEURONAL CYTOPLASMIC INCLUSIONS HP:0030213 Emotional blunting IEA IEA OMIM-CS:NEUROLOGIC_BEHAVIORAL/PSYCHIATRIC MANIFESTATIONS > EMOTIONAL BLUNTING OMIM:172700 HPO:skoehler 04.01.2015
+OMIM:172700 #172700 PICK DISEASE OF BRAIN;;LOBAR ATROPHY OF BRAIN;;DEMENTIA WITH LOBAR ATROPHY AND NEURONAL CYTOPLASMIC INCLUSIONS HP:0030223 Perseveration IEA IEA OMIM-CS:NEUROLOGIC_BEHAVIORAL/PSYCHIATRIC MANIFESTATIONS > PERSEVERATION OMIM:172700 HPO:skoehler 04.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-182290.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-182290.tab 2015-01-07 14:44:21 UTC (rev 5240)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-182290.tab 2015-01-07 14:52:19 UTC (rev 5241)
@@ -58,3 +58,4 @@
OMIM:182290 #182290 SMITH-MAGENIS SYNDROME; SMS;;CHROMOSOME 17p11.2 DELETION SYNDROMESMITH-MAGENIS CHROMOSOME REGION, INCLUDED; SMCR, INCLUDED HP:0001284 Areflexia IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > DECREASE/ABSENT DEEP TENDON REFLEXES OMIM:182290 HPO:skoehler 22.01.2013
OMIM:182290 #182290 SMITH-MAGENIS SYNDROME; SMS;;CHROMOSOME 17p11.2 DELETION SYNDROMESMITH-MAGENIS CHROMOSOME REGION, INCLUDED; SMCR, INCLUDED HP:0012168 Head-banging IEA IEA OMIM-CS:NEUROLOGIC_BEHAVIORAL/PSYCHIATRIC MANIFESTATIONS > HEAD-BANGING OMIM:182290 HPO:skoehler 25.02.2013
OMIM:182290 #182290 SMITH-MAGENIS SYNDROME; SMS;;CHROMOSOME 17p11.2 DELETION SYNDROMESMITH-MAGENIS CHROMOSOME REGION, INCLUDED; SMCR, INCLUDED HP:0011800 Midface retrusion IEA IEA OMIM-CS:HEAD AND NECK_FACE > MIDFACE HYPOPLASIA OMIM:182290 HPO:skoehler 28.11.2013
+OMIM:182290 #182290 SMITH-MAGENIS SYNDROME; SMS;;CHROMOSOME 17p11.2 DELETION SYNDROMESMITH-MAGENIS CHROMOSOME REGION, INCLUDED; SMCR, INCLUDED HP:0040129 Abnormal nerve conduction velocity IEA IEA NOT NOT OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > NORMAL NERVE CONDUCTION VELOCITIES OMIM:182290 HPO:skoehler 04.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-183600.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-183600.tab 2015-01-07 14:44:21 UTC (rev 5240)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-183600.tab 2015-01-07 14:52:19 UTC (rev 5241)
@@ -10,3 +10,6 @@
MIM:183600 SPLIT-HAND/FOOT MALFORMATION 1 7q21.2-q21.3 / wt 7q21.2-q21.3 HP:0000175 Cleft palate PCS PCS frequent MIM:183600 HPO 13.08.2010
MIM:183600 SPLIT-HAND/FOOT MALFORMATION 1 7q21.2-q21.3 / wt 7q21.2-q21.3 HP:0001849 Oligodactyly (feet) PCS; ICE PCS; ICE frequent PMID:16688749;HPO:sdoelken HPO 13.08.2010
MIM:183600 SPLIT-HAND/FOOT MALFORMATION 1 7q21.2-q21.3 / wt 7q21.2-q21.3 HP:0001159 Syndactyly ISBN-13:978-0721606156;ICE ISBN-13:978-0721606156;ICE frequent PMID:16688749;HPO:sdoelken HPO 13.08.2010
+OMIM:183600 #183600 SPLIT-HAND/FOOT MALFORMATION 1; SHFM1;;SPLIT-HAND/FOOT MALFORMATION 1 WITH OR WITHOUT DEAFNESS;;SPLIT-HAND/FOOT DEFORMITY 1; SHFD1; SHSF1;;SPLIT-HAND DEFORMITY;;ECTRODACTYLY; ECD HP:0010055 Broad hallux IEA IEA OMIM-CS:SKELETAL_FEET > BROAD HALLUX OMIM:183600 HPO:skoehler 04.01.2015
+OMIM:183600 #183600 SPLIT-HAND/FOOT MALFORMATION 1; SHFM1;;SPLIT-HAND/FOOT MALFORMATION 1 WITH OR WITHOUT DEAFNESS;;SPLIT-HAND/FOOT DEFORMITY 1; SHFD1; SHSF1;;SPLIT-HAND DEFORMITY;;ECTRODACTYLY; ECD HP:0030084 Clinodactyly IEA IEA OMIM-CS:SKELETAL_FEET > CLINODACTYLY OMIM:183600 HPO:skoehler 04.01.2015
+OMIM:183600 #183600 SPLIT-HAND/FOOT MALFORMATION 1; SHFM1;;SPLIT-HAND/FOOT MALFORMATION 1 WITH OR WITHOUT DEAFNESS;;SPLIT-HAND/FOOT DEFORMITY 1; SHFD1; SHSF1;;SPLIT-HAND DEFORMITY;;ECTRODACTYLY; ECD HP:0001199 Triphalangeal thumb IEA IEA OMIM-CS:SKELETAL_HANDS > TRIPHALANGEAL THUMBS OMIM:183600 HPO:skoehler 04.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-186000.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-186000.tab 2015-01-07 14:44:21 UTC (rev 5240)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-186000.tab 2015-01-07 14:52:19 UTC (rev 5241)
@@ -12,3 +12,4 @@
OMIM:186000 SYNPOLYDACTYLY 1 HP:0004209 Clinodactyly of the 5th finger TAS TAS OMIM:186000 HPO:probinson 04.06.2012
OMIM:186000 SYNPOLYDACTYLY 1 HP:0006097 3-4 finger syndactyly TAS TAS OMIM:186000 HPO:probinson 04.06.2012
OMIM:186000 SYNPOLYDACTYLY 1 HP:0006159 Central polydactyly (hands) TAS TAS OMIM:186000 HPO:probinson 04.06.2012
+OMIM:186000 #186000 SYNPOLYDACTYLY 1; SPD1;;SYNDACTYLY, TYPE IISYNPOLYDACTYLY WITH FOOT ANOMALIES, INCLUDED HP:0001850 Abnormality of the tarsal bones IEA IEA NOT NOT OMIM-CS:SKELETAL_FEET > NORMAL TARSALS OMIM:186000 HPO:skoehler 04.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-200610.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-200610.tab 2015-01-07 14:44:21 UTC (rev 5240)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-200610.tab 2015-01-07 14:52:19 UTC (rev 5241)
@@ -18,3 +18,4 @@
OMIM:200610 ACHONDROGENESIS, TYPE II HP:0003026 Short long bones TAS TAS Severe OMIM:200610 HPO:probinson May 8, 2012
OMIM:200610 ACHONDROGENESIS, TYPE II HP:0000888 Horizontal ribs TAS TAS OMIM:200610 HPO:probinson Apr 12, 2013
OMIM:200610 ACHONDROGENESIS, TYPE II HP:0000773 Short ribs TAS TAS OMIM:200610 HPO:probinson Apr 12, 2013
+OMIM:200610 #200610 ACHONDROGENESIS, TYPE II; ACG2;;ACHONDROGENESIS, LANGER-SALDINO TYPE;;CHONDROGENESIS IMPERFECTA;;ACHONDROGENESIS, TYPE IB, FORMERLYHYPOCHONDROGENESIS, INCLUDED HP:0000889 Abnormality of the clavicles IEA IEA NOT NOT OMIM-CS:CHEST_RIBS, STERNUM, CLAVICLES, AND SCAPULAE > NORMAL CLAVICLES OMIM:200610 HPO:skoehler 04.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-200980.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-200980.tab 2015-01-07 14:44:21 UTC (rev 5240)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-200980.tab 2015-01-07 14:52:19 UTC (rev 5241)
@@ -38,3 +38,4 @@
OMIM:200980 ACRORENAL-MANDIBULAR SYNDROME HP:0008468 Abnormal sacral segmentation IEA IEA OMIM:200980 HPO 17.02.2009
OMIM:200980 ACRORENAL-MANDIBULAR SYNDROME HP:0000347 Micrognathia TAS TAS Severe OMIM:200980 HPO:probinson 30.04.2012
OMIM:200980 200980 ACRORENAL-MANDIBULAR SYNDROME;;ACRORENAL-UTERINE-MANDIBULAR SYNDROME; ARUMS;;SPLIT-HAND AND SPLIT-FOOT WITH MANDIBULAR HYPOPLASIA HP:0000189 Narrow palate IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > NARROW PALATE OMIM:200980 HPO:skoehler 18.08.2013
+OMIM:200980 200980 ACRORENAL-MANDIBULAR SYNDROME;;ACRORENAL-UTERINE-MANDIBULAR SYNDROME; ARUMS;;SPLIT-HAND AND SPLIT-FOOT WITH MANDIBULAR HYPOPLASIA HP:0002561 Absent nipple IEA IEA OMIM-CS:CHEST_BREASTS > ATHELIA OMIM:200980 HPO:skoehler 04.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-211530.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-211530.tab 2015-01-07 14:44:21 UTC (rev 5240)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-211530.tab 2015-01-07 14:52:19 UTC (rev 5241)
@@ -31,3 +31,5 @@
OMIM:211530 #211530 BROWN-VIALETTO-VAN LAERE SYNDROME 1; BVVLS1;;BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESS;;PONTOBULBAR PALSY WITH DEAFNESS HP:0011448 Ankle clonus IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ANKLE CLONUS OMIM:211530 HPO:skoehler Oct 17, 2012
OMIM:211530 #211530 BROWN-VIALETTO-VAN LAERE SYNDROME 1; BVVLS1;;BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESS;;PONTOBULBAR PALSY WITH DEAFNESS HP:0002094 Dyspnea IEA IEA OMIM-CS:RESPIRATORY > SHORTNESS OF BREATH OMIM:211530 HPO:skoehler 18.11.2013
OMIM:211530 #211530 BROWN-VIALETTO-VAN LAERE SYNDROME 1; BVVLS1;;BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESS;;PONTOBULBAR PALSY WITH DEAFNESS HP:0012473 Tongue atrophy IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > TONGUE ATROPHY OMIM:211530 HPO:skoehler 28.11.2013
+OMIM:211530 #211530 BROWN-VIALETTO-VAN LAERE SYNDROME 1; BVVLS1;;BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESS;;PONTOBULBAR PALSY WITH DEAFNESS HP:0010628 Facial palsy IEA IEA OMIM-CS:HEAD AND NECK_FACE > FACIAL MUSCLE WEAKNESS OMIM:211530 HPO:skoehler 04.01.2015
+OMIM:211530 #211530 BROWN-VIALETTO-VAN LAERE SYNDROME 1; BVVLS1;;BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESS;;PONTOBULBAR PALSY WITH DEAFNESS HP:0006824 Cranial nerve paralysis IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CRANIAL NERVE PALSIES OMIM:211530 HPO:skoehler 04.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-213600.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-213600.tab 2015-01-07 14:44:21 UTC (rev 5240)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-213600.tab 2015-01-07 14:52:19 UTC (rev 5241)
@@ -25,3 +25,4 @@
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
OMIM:213600 #213600 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1; IBGC1;;STRIOPALLIDODENTATE CALCINOSIS, BILATERAL; BSPDC;;STRIOPALLIDODENTATE CALCINOSIS, AUTOSOMAL DOMINANT, ADULT-ONSET;;CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC, IDIOPATHIC, ADULT-ONSET;;FERROCALCINOSIS, CEREBROVASCULAR;;FAHR DISEASE, FAMILIAL, FORMERLY;;BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 3, FORMERLY; IBGC3, FORMERLY HP:0040077 Abnormal concentration of calcium in blood IEA IEA NOT NOT OMIM-CS:LABORATORY ABNORMALITIES > NORMAL SERUM CALCIUM OMIM:213600 HPO:skoehler 26.11.2014
+OMIM:213600 #213600 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1; IBGC1;;STRIOPALLIDODENTATE CALCINOSIS, BILATERAL; BSPDC;;STRIOPALLIDODENTATE CALCINOSIS, AUTOSOMAL DOMINANT, ADULT-ONSET;;CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC, IDIOPATHIC, ADULT-ONSET;;FERROCALCINOSIS, CEREBROVASCULAR;;FAHR DISEASE, FAMILIAL, FORMERLY;;BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 3, FORMERLY; IBGC3, FORMERLY HP:0007256 Abnormal pyramidal signs IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PYRAMIDAL SIGNS (LESS COMMON) OMIM:213600 HPO:skoehler 04.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-215045.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-215045.tab 2015-01-07 14:44:21 UTC (rev 5240)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-215045.tab 2015-01-07 14:52:19 UTC (rev 5241)
@@ -16,3 +16,4 @@
OMIM:215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE HP:0003177 Squared iliac bones TAS TAS OMIM:215045 HPO:probinson 30.07.2012
OMIM:215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE HP:0005616 Accelerated skeletal maturation TAS TAS OMIM:215045 HPO:probinson 30.07.2012
OMIM:215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE HP:0005789 Generalized osteosclerosis HP:0003577 Congenital onset TAS TAS OMIM:215045 HPO:probinson 30.07.2012
+OMIM:215045 #215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD HP:0003468 Abnormality of the vertebrae IEA IEA NOT NOT OMIM-CS:SKELETAL_SPINE > NORMAL VERTEBRAE OMIM:215045 HPO:skoehler 04.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-216820.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-216820.tab 2015-01-07 14:44:21 UTC (rev 5240)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-216820.tab 2015-01-07 14:52:19 UTC (rev 5241)
@@ -1,2 +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:216820 COLOBOMA, OCULAR HP:0000589 Coloboma IEA IEA OMIM:216820 HPO 17.02.2009
+OMIM:216820 #216820 COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE HP:0000505 Visual impairment IEA IEA OMIM-CS:HEAD AND NECK_EYES > DECREASED VISUAL ACUITY OMIM:216820 HPO:skoehler 04.01.2015
+OMIM:216820 #216820 COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE HP:0000565 Esotropia IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > ESOTROPIA (IN SOME PATIENTS) OMIM:216820 HPO:skoehler 04.01.2015
+OMIM:216820 #216820 COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE HP:0000577 Exotropia IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > EXOTROPIA (IN SOME PATIENTS) OMIM:216820 HPO:skoehler 04.01.2015
+OMIM:216820 #216820 COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE HP:0001132 Lens subluxation IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > LENS SUBLUXATION (IN SOME PATIENTS) OMIM:216820 HPO:skoehler 04.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-233910.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-233910.tab 2015-01-07 14:44:21 UTC (rev 5240)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-233910.tab 2015-01-07 14:52:19 UTC (rev 5241)
@@ -19,3 +19,4 @@
OMIM:233910 GTP CYCLOHYDROLASE I DEFICIENCY HP:0006887 Intellectual disability, progressive IEA IEA OMIM:233910 HPO 17.02.2009
OMIM:233910 #233910 HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B;;HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO GTP CYCLOHYDROLASEI DEFICIENCY;;GTP CYCLOHYDROLASE I DEFICIENCYDYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA,AUTOSOMAL RECESSIVE, INCLUDED HP:0003828 Variable expressivity IEA IEA OMIM-CS:MISCELLANEOUS > VARIABLE SEVERITY OMIM:233910 HPO:skoehler 17.10.2012
OMIM:233910 #233910 HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B;;HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO GTP CYCLOHYDROLASEI DEFICIENCY;;GTP CYCLOHYDROLASE I DEFICIENCYDYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA,AUTOSOMAL RECESSIVE, INCLUDED HP:0002487 Hyperkinesis IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPERKINESIA OMIM:233910 HPO:skoehler 17.10.2012
+OMIM:233910 #233910 HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B;;HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO GTP CYCLOHYDROLASEI DEFICIENCY;;GTP CYCLOHYDROLASE I DEFICIENCYDYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA,AUTOSOMAL RECESSIVE, INCLUDED HP:0003781 Excessive salivation IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > HYPERSALIVATION OMIM:233910 HPO:skoehler 04.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-234200.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-234200.tab 2015-01-07 14:44:21 UTC (rev 5240)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-234200.tab 2015-01-07 14:52:19 UTC (rev 5241)
@@ -41,3 +41,4 @@
OMIM:234200 #234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1;;PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN;;PKAN NEUROAXONAL DYSTROPHY, JUVENILE-ONSET;;HALLERVORDEN-SPATZ DISEASE HP:0000708 Behavioural/Psychiatric Abnormality IEA IEA OMIM-CS:NEUROLOGIC_BEHAVIORAL/PSYCHIATRIC MANIFESTATIONS > AND SLOW PROGRESSION) OMIM:234200 HPO:skoehler Nov 18, 2012
OMIM:234200 #234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1;;PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN;;PKAN NEUROAXONAL DYSTROPHY, JUVENILE-ONSET;;HALLERVORDEN-SPATZ DISEASE HP:0100034 Motor tics IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MOTOR 'TICS' OMIM:234200 HPO:skoehler Nov 18, 2012
OMIM:234200 #234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1;;PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN;;PKAN NEUROAXONAL DYSTROPHY, JUVENILE-ONSET;;HALLERVORDEN-SPATZ DISEASE HP:0003678 Rapidly progressive IEA IEA OMIM-CS:MISCELLANEOUS > CLASSIC: ONSET IN FIRST DECADE, RAPID PROGRESSION, LOSS OF INDEPENDENT OMIM:234200 HPO:skoehler Nov 26, 2012
+OMIM:234200 #234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1;;PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN;;PKAN NEUROAXONAL DYSTROPHY, JUVENILE-ONSET;;HALLERVORDEN-SPATZ DISEASE HP:0007256 Abnormal pyramidal signs IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CORTICOSPINAL SIGNS (87% OF PATIENTS IN 1 REPORT) OMIM:234200 HPO:skoehler 04.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-234500.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-234500.tab 2015-01-07 14:44:21 UTC (rev 5240)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-234500.tab 2015-01-07 14:52:19 UTC (rev 5241)
@@ -11,3 +11,4 @@
OMIM:234500 HARTNUP DISORDER HP:0004322 Short stature IEA IEA OMIM:234500 HPO 17.02.2009
OMIM:234500 HARTNUP DISORDER HP:0006862 Intermittent cerebellar ataxia IEA IEA OMIM:234500 HPO 17.02.2009
OMIM:234500 HARTNUP DISORDER HP:0008353 Neutral hyperaminoaciduria IEA IEA OMIM:234500 HPO 17.02.2009
+OMIM:234500 #234500 HARTNUP DISORDER; HND;;HARTNUP DISEASE HP:0002131 Episodic ataxia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTERMITTENT CEREBELLAR ATAXIA OMIM:234500 HPO:skoehler 04.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-236792.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-236792.tab 2015-01-07 14:44:21 UTC (rev 5240)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-236792.tab 2015-01-07 14:52:19 UTC (rev 5241)
@@ -20,3 +20,4 @@
OMIM:236792 L-2-HYDROXYGLUTARIC ACIDURIA HP:0007258 Severe demyelination of the white matter IEA IEA OMIM:236792 HPO 17.02.2009
OMIM:236792 L-2-HYDROXYGLUTARIC ACIDURIA HP:0007371 Atrophy/Degeneration of the corpus callosum IEA IEA OMIM:236792 HPO 17.02.2009
OMIM:236792 #236792 L-2-HYDROXYGLUTARIC ACIDURIA;;L-2-HYDROXYGLUTARIC ACIDEMIA HP:0010864 Intellectual disability, severe IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, SEVERE OMIM:236792 HPO:skoehler 17.10.2012
+OMIM:236792 #236792 L-2-HYDROXYGLUTARIC ACIDURIA;;L-2-HYDROXYGLUTARIC ACIDEMIA HP:0007256 Abnormal pyramidal signs IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PYRAMIDAL SIGNS OMIM:236792 HPO:skoehler 04.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-238970.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-238970.tab 2015-01-07 14:44:21 UTC (rev 5240)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-238970.tab 2015-01-07 14:52:19 UTC (rev 5241)
@@ -28,3 +28,4 @@
OMIM:238970 #238970 HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME;;HHH SYNDROME; HHHS; HHH;;ORNITHINE TRANSLOCASE DEFICIENCY HP:0001249 Intellectual disability IEA IEA variable OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, VARIABLE OMIM:238970 HPO:skoehler 03.06.2013
OMIM:238970 #238970 HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME;;HHH SYNDROME; HHHS; HHH;;ORNITHINE TRANSLOCASE DEFICIENCY HP:0200119 Acute hepatitis IEA IEA OMIM-CS:ABDOMEN_LIVER > ACUTE HEPATITIS OMIM:238970 HPO:skoehler 11.06.2013
OMIM:238970 #238970 HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME;;HHH SYNDROME; HHHS; HHH;;ORNITHINE TRANSLOCASE DEFICIENCY HP:0001252 Muscular hypotonia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPOTONIA OMIM:238970 HPO:skoehler 26.11.2014
+OMIM:238970 #238970 HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME;;HHH SYNDROME; HHHS; HHH;;ORNITHINE TRANSLOCASE DEFICIENCY HP:0007256 Abnormal pyramidal signs IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PYRAMIDAL SIGNS OMIM:238970 HPO:skoehler 04.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-251000.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-251000.tab 2015-01-07 14:44:21 UTC (rev 5240)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-251000.tab 2015-01-07 14:52:19 UTC (rev 5241)
@@ -22,3 +22,4 @@
OMIM:251000 METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY HP:0005979 Metabolic ketoacidosis TAS TAS OMIM:251000 HPO:probinson 17.02.2009
OMIM:251000 #251000 METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY;;METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCYMMA DUE TO MCM DEFICIENCY;;METHYLMALONIC ACIDURIA, mut TYPEMETHYLMALONIC ACIDURIA, mut(0) TYPE, INCLUDED;;METHYLMALONIC ACIDURIA, mut(-) TYPE, INCLUDED HP:0012120 Methylmalonic aciduria IEA IEA OMIM-CS:LABORATORY ABNORMALITIES > METHYMALONICACIDURIA OMIM:251000 HPO:skoehler 17.10.2012
OMIM:251000 #251000 METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY;;METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCYMMA DUE TO MCM DEFICIENCY;;METHYLMALONIC ACIDURIA, mut TYPEMETHYLMALONIC ACIDURIA, mut(0) TYPE, INCLUDED;;METHYLMALONIC ACIDURIA, mut(-) TYPE, INCLUDED HP:0011695 Cerebellar hemorrhage IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR HEMORRHAGE (RARE) OMIM:251000 HPO:skoehler 18.11.2012
+OMIM:251000 #251000 METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY;;METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCYMMA DUE TO MCM DEFICIENCY;;METHYLMALONIC ACIDURIA, mut TYPEMETHYLMALONIC ACIDURIA, mut(0) TYPE, INCLUDED;;METHYLMALONIC ACIDURIA, mut(-) TYPE, INCLUDED HP:0040126 Abnormal serum cobalamin IEA IEA NOT NOT OMIM-CS:LABORATORY ABNORMALITIES > NORMAL SERUM COBALAMIN OMIM:251000 HPO:skoehler 04.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-251100.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-251100.tab 2015-01-07 14:44:21 UTC (rev 5240)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-251100.tab 2015-01-07 14:52:19 UTC (rev 5241)
@@ -26,3 +26,4 @@
OMIM:251100 #251100 METHYLMALONIC ACIDURIA, cblA TYPE;;METHYLMALONIC ACIDEMIA, cblA TYPE;;METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESISOF ADENOSYLCOBALAMIN, cblA TYPE HP:0001903 Anemia IEA IEA OMIM-CS:HEMATOLOGY > ANEMIA OMIM:251100 HPO:skoehler 17.10.2012
OMIM:251100 #251100 METHYLMALONIC ACIDURIA, cblA TYPE;;METHYLMALONIC ACIDEMIA, cblA TYPE;;METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESISOF ADENOSYLCOBALAMIN, cblA TYPE HP:0001873 Thrombocytopenia IEA IEA OMIM-CS:HEMATOLOGY > THROMBOCYTOPENIA OMIM:251100 HPO:skoehler 17.10.2012
OMIM:251100 #251100 METHYLMALONIC ACIDURIA, cblA TYPE;;METHYLMALONIC ACIDEMIA, cblA TYPE;;METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESISOF ADENOSYLCOBALAMIN, cblA TYPE HP:0012120 Methylmalonic aciduria IEA IEA OMIM-CS:LABORATORY ABNORMALITIES > METHYLMALONIC ACIDURIA OMIM:251100 HPO:skoehler 17.10.2012
+OMIM:251100 #251100 METHYLMALONIC ACIDURIA, cblA TYPE;;METHYLMALONIC ACIDEMIA, cblA TYPE;;METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESISOF ADENOSYLCOBALAMIN, cblA TYPE HP:0040126 Abnormal serum cobalamin IEA IEA NOT NOT OMIM-CS:LABORATORY ABNORMALITIES > NORMAL SERUM COBALAMIN (VITAMIN B12) OMIM:251100 HPO:skoehler 04.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-251110.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-251110.tab 2015-01-07 14:44:21 UTC (rev 5240)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-251110.tab 2015-01-07 14:52:19 UTC (rev 5241)
@@ -24,3 +24,4 @@
OMIM:251110 #251110 METHYLMALONIC ACIDURIA, cblB TYPE;;METHYLMALONIC ACIDEMIA, cblB TYPE;;METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESISOF ADENOSYLCOBALAMIN, cblB TYPE HP:0001903 Anemia IEA IEA OMIM-CS:HEMATOLOGY > ANEMIA OMIM:251110 HPO:skoehler 17.10.2012
OMIM:251110 #251110 METHYLMALONIC ACIDURIA, cblB TYPE;;METHYLMALONIC ACIDEMIA, cblB TYPE;;METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESISOF ADENOSYLCOBALAMIN, cblB TYPE HP:0001873 Thrombocytopenia IEA IEA OMIM-CS:HEMATOLOGY > THROMBOCYTOPENIA OMIM:251110 HPO:skoehler 17.10.2012
OMIM:251110 #251110 METHYLMALONIC ACIDURIA, cblB TYPE;;METHYLMALONIC ACIDEMIA, cblB TYPE;;METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESISOF ADENOSYLCOBALAMIN, cblB TYPE HP:0012120 Methylmalonic aciduria IEA IEA OMIM-CS:LABORATORY ABNORMALITIES > METHYLMALONIC ACIDURIA OMIM:251110 HPO:skoehler 17.10.2012
+OMIM:251110 #251110 METHYLMALONIC ACIDURIA, cblB TYPE;;METHYLMALONIC ACIDEMIA, cblB TYPE;;METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESISOF ADENOSYLCOBALAMIN, cblB TYPE HP:0040126 Abnormal serum cobalamin IEA IEA NOT NOT OMIM-CS:LABORATORY ABNORMALITIES > NORMAL SERUM COBALAMIN (VITAMIN B12) OMIM:251110 HPO:skoehler 04.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-253240.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-253240.tab 2015-01-07 14:44:21 UTC (rev 5240)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-253240.tab 2015-01-07 14:52:19 UTC (rev 5241)
@@ -7,3 +7,4 @@
OMIM:253240 %253240 MUCUS INSPISSATION OF RESPIRATORY TRACT HP:0100750 Atelectasis IEA IEA OMIM-CS:RESPIRATORY_LUNG > ATELECTASIS OMIM:253240 HPO:skoehler 17.10.2012
OMIM:253240 %253240 MUCUS INSPISSATION OF RESPIRATORY TRACT HP:0000246 Sinusitis IEA IEA OMIM-CS:RESPIRATORY_NASOPHARYNX > SINUSITIS OMIM:253240 HPO:skoehler 17.10.2012
OMIM:253240 %253240 MUCUS INSPISSATION OF RESPIRATORY TRACT HP:0100759 Clubbing of fingers IEA IEA OMIM-CS:SKELETAL_HANDS > FINGER CLUBBING OMIM:253240 HPO:skoehler 17.10.2012
+OMIM:253240 %253240 MUCUS INSPISSATION OF RESPIRATORY TRACT HP:0040128 Abnormal sweat electrolytes IEA IEA NOT NOT OMIM-CS:SKIN, NAILS, HAIR_SKIN > NORMAL SWEAT ELECTROLYTES OMIM:253240 HPO:skoehler 04.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-255995.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-255995.tab 2015-01-07 14:44:21 UTC (rev 5240)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-255995.tab 2015-01-07 14:52:19 UTC (rev 5241)
@@ -24,3 +24,4 @@
OMIM:255995 %255995 NATIVE AMERICAN MYOPATHY; NAM;;MYOPATHY, CONGENITAL, WITH CLEFT PALATE AND MALIGNANT HYPERTHERMIA HP:0002119 Ventriculomegaly IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ENLARGED VENTRICLES (IN SOME) OMIM:255995 HPO:skoehler 18.11.2012
OMIM:255995 %255995 NATIVE AMERICAN MYOPATHY; NAM;;MYOPATHY, CONGENITAL, WITH CLEFT PALATE AND MALIGNANT HYPERTHERMIA HP:0000494 Downslanted palpebral fissures IEA IEA OMIM-CS:HEAD AND NECK_EYES > DOWNSLANTING PALPEBRAL FISSURES OMIM:255995 HPO:skoehler 20.11.2012
OMIM:255995 #255995 NATIVE AMERICAN MYOPATHY; NAM;;MYOPATHY, CONGENITAL, WITH CLEFT PALATE AND MALIGNANT HYPERTHERMIA HP:0012745 Short palpebral fissure IEA IEA OMIM-CS:HEAD AND NECK_EYES > SHORT PALPEBRAL FISSURES OMIM:255995 HPO:skoehler 24.03.2014
+OMIM:255995 #255995 NATIVE AMERICAN MYOPATHY; NAM;;MYOPATHY, CONGENITAL, WITH CLEFT PALATE AND MALIGNANT HYPERTHERMIA HP:0001324 Muscle weakness HP:0003577 Congenital onset IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, CONGENITAL OMIM:255995 HPO:skoehler 04.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-256030.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-256030.tab 2015-01-07 14:44:21 UTC (rev 5240)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-256030.tab 2015-01-07 14:52:19 UTC (rev 5241)
@@ -37,3 +37,5 @@
OMIM:256030 #256030 NEMALINE MYOPATHY 2; NEM2 HP:0002104 Apnea IEA IEA MODIFIER:SEVERE;OMIM-CS:RESPIRATORY > ABSENCE OF SPONTANEOUS RESPIRATION (SEVERE FORM) OMIM:256030 HPO:skoehler Jun 11, 2013
OMIM:256030 NEMALINE MYOPATHY 2 HP:0002803 Congenital contractures TAS TAS In severe cases OMIM:256030 HPO:probinson Jan 1, 2014
OMIM:256030 #256030 NEMALINE MYOPATHY 2; NEM2 HP:0002804 Arthrogryposis multiplex congenita IEA IEA MODIFIER:SEVERE;OMIM-CS:SKELETAL > ARTHROGRYPOSIS (SEVERE FORM) OMIM:256030 HPO:skoehler 28.01.2014
+OMIM:256030 #256030 NEMALINE MYOPATHY 2; NEM2 HP:0010628 Facial palsy IEA IEA OMIM-CS:HEAD AND NECK_FACE > FACIAL MUSCLE WEAKNESS OMIM:256030 HPO:skoehler 04.01.2015
+OMIM:256030 #256030 NEMALINE MYOPATHY 2; NEM2 HP:0010628 Facial palsy IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > FACIAL MUSCLE WEAKNESS OMIM:256030 HPO:skoehler 04.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-256600.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-256600.tab 2015-01-07 14:44:21 UTC (rev 5240)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-256600.tab 2015-01-07 14:52:19 UTC (rev 5241)
@@ -31,3 +31,4 @@
OMIM:256600 NEUROAXONAL DYSTROPHY, INFANTILE HP:0003444 EMG: chronic denervation signs IEA IEA OMIM:256600 HPO 17.02.2009
OMIM:256600 NEUROAXONAL DYST...
[truncated message content] |
|
From: <koe...@us...> - 2015-01-07 14:44:28
|
Revision: 5240
http://sourceforge.net/p/obo/svn/5240
Author: koehlers
Date: 2015-01-07 14:44:21 +0000 (Wed, 07 Jan 2015)
Log Message:
-----------
adding timestamp-file
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/misc/makefile
Modified: phenotype-commons/annotations/OMIM/by-disease/misc/makefile
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/misc/makefile 2015-01-02 02:27:58 UTC (rev 5239)
+++ phenotype-commons/annotations/OMIM/by-disease/misc/makefile 2015-01-07 14:44:21 UTC (rev 5240)
@@ -43,6 +43,8 @@
generate-annotation-file:
$(GENERATE_ANNOTATIONFILE) --orphadata "$(EXTERNAL_ORPHANET)" --sign-mapping "$(ORPHANET_MAPPING)/onet_hpo.tsv" --out-folder "." --hpo_ontology "$(HPO_FOLDER)" --berkeley-annotated "../annotated/"
cat phenotype_annotation.tab negative_phenotype_annotation.tab | awk -F'\t' '{print $$14}' | sort | uniq -c | sort -nr > curator-statistics.tab
+ NOW=$(date +"%m-%d-%Y "%H:%M"")
+ echo -e "Annotation file generated at:\n$NOW" > data_version.txt
.PHONY: clean
clean:
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <cmu...@us...> - 2015-01-02 02:28:14
|
Revision: 5239
http://sourceforge.net/p/obo/svn/5239
Author: cmungall
Date: 2015-01-02 02:27:58 +0000 (Fri, 02 Jan 2015)
Log Message:
-----------
switched from acronyms to IDs
Modified Paths:
--------------
uberon/trunk/bridge/uberon-bridge-to-mba.obo
uberon/trunk/bridge/uberon-bridge-to-mba.owl
uberon/trunk/bridge/uberon-bridge-to-vhog.owl
Modified: uberon/trunk/bridge/uberon-bridge-to-mba.obo
===================================================================
--- uberon/trunk/bridge/uberon-bridge-to-mba.obo 2015-01-02 02:26:07 UTC (rev 5238)
+++ uberon/trunk/bridge/uberon-bridge-to-mba.obo 2015-01-02 02:27:58 UTC (rev 5239)
@@ -1,64 +1,2908 @@
-ontology: uberon/bridge/uberon-bridge-to-aba
+ontology: uberon/bridge/uberon-bridge-to-mba
data-version: 2015-01-01
property_value: seeAlso "http://purl.obolibrary.org/obo/uberon/references/reference_0000026" xsd:anyURI
[Term]
-id: ABA:Brain !
-property_value: IAO:0000589 "brain (ABA)" xsd:string
-intersection_of: UBERON:0000955 ! brain
+id: MBA:669 !
+property_value: IAO:0000589 "visual cortex (MBA)" xsd:string
+intersection_of: UBERON:0000411 ! visual cortex
intersection_of: part_of NCBITaxon:10090
[Term]
-id: ABA:CTX1-6b !
-property_value: IAO:0000589 "layer of neocortex (ABA)" xsd:string
-intersection_of: UBERON:0002301 ! layer of neocortex
+id: MBA:30 !
+property_value: IAO:0000589 "anterior paraventricular nucleus of thalamus (MBA)" xsd:string
+intersection_of: UBERON:0000434 ! anterior paraventricular nucleus of thalamus
intersection_of: part_of NCBITaxon:10090
[Term]
-id: ABA:SNI !
-property_value: IAO:0000589 "substantia nigra pars lateralis (ABA)" xsd:string
+id: MBA:614 !
+property_value: IAO:0000589 "lateral tuberal nucleus (MBA)" xsd:string
+intersection_of: UBERON:0000435 ! lateral tuberal nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:618 !
+property_value: IAO:0000589 "hippocampal commissure (MBA)" xsd:string
+intersection_of: UBERON:0000908 ! hippocampal commissure
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:158 !
+property_value: IAO:0000589 "posterior commissure (MBA)" xsd:string
+intersection_of: UBERON:0000936 ! posterior commissure
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:848 !
+property_value: IAO:0000589 "cranial nerve II (MBA)" xsd:string
+intersection_of: UBERON:0000941 ! cranial nerve II
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:688 !
+property_value: IAO:0000589 "cerebral cortex (MBA)" xsd:string
+intersection_of: UBERON:0000956 ! cerebral cortex
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:117 !
+property_value: IAO:0000589 "optic chiasma (MBA)" xsd:string
+intersection_of: UBERON:0000959 ! optic chiasma
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:304325711 !
+property_value: IAO:0000589 "retina (MBA)" xsd:string
+intersection_of: UBERON:0000966 ! retina
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:771 !
+property_value: IAO:0000589 "pons (MBA)" xsd:string
+intersection_of: UBERON:0000988 ! pons
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:1049 !
+property_value: IAO:0000589 "flocculus (MBA)" xsd:string
+intersection_of: UBERON:0001063 ! flocculus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:985 !
+property_value: IAO:0000589 "primary motor cortex (MBA)" xsd:string
+intersection_of: UBERON:0001384 ! primary motor cortex
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:247 !
+property_value: IAO:0000589 "auditory cortex (MBA)" xsd:string
+intersection_of: UBERON:0001393 ! auditory cortex
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:840 !
+property_value: IAO:0000589 "olfactory nerve (MBA)" xsd:string
+intersection_of: UBERON:0001579 ! olfactory nerve
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:832 !
+property_value: IAO:0000589 "oculomotor nerve (MBA)" xsd:string
+intersection_of: UBERON:0001643 ! oculomotor nerve
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:911 !
+property_value: IAO:0000589 "trochlear nerve (MBA)" xsd:string
+intersection_of: UBERON:0001644 ! trochlear nerve
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:901 !
+property_value: IAO:0000589 "trigeminal nerve (MBA)" xsd:string
+intersection_of: UBERON:0001645 ! trigeminal nerve
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:710 !
+property_value: IAO:0000589 "abducens nerve (MBA)" xsd:string
+intersection_of: UBERON:0001646 ! abducens nerve
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:798 !
+property_value: IAO:0000589 "facial nerve (MBA)" xsd:string
+intersection_of: UBERON:0001647 ! facial nerve
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:933 !
+property_value: IAO:0000589 "vestibulocochlear nerve (MBA)" xsd:string
+intersection_of: UBERON:0001648 ! vestibulocochlear nerve
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:808 !
+property_value: IAO:0000589 "glossopharyngeal nerve (MBA)" xsd:string
+intersection_of: UBERON:0001649 ! glossopharyngeal nerve
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:813 !
+property_value: IAO:0000589 "hypoglossal nerve (MBA)" xsd:string
+intersection_of: UBERON:0001650 ! hypoglossal nerve
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:1131 !
+property_value: IAO:0000589 "sensory root of facial nerve (MBA)" xsd:string
+intersection_of: UBERON:0001699 ! sensory root of facial nerve
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:35 !
+property_value: IAO:0000589 "oculomotor nuclear complex (MBA)" xsd:string
+intersection_of: UBERON:0001715 ! oculomotor nuclear complex
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:460 !
+property_value: IAO:0000589 "mesencephalic nucleus of trigeminal nerve (MBA)" xsd:string
+intersection_of: UBERON:0001718 ! mesencephalic nucleus of trigeminal nerve
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:135 !
+property_value: IAO:0000589 "nucleus ambiguus (MBA)" xsd:string
+intersection_of: UBERON:0001719 ! nucleus ambiguus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:225 !
+property_value: IAO:0000589 "inferior vestibular nucleus (MBA)" xsd:string
+intersection_of: UBERON:0001721 ! inferior vestibular nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:202 !
+property_value: IAO:0000589 "medial vestibular nucleus (MBA)" xsd:string
+intersection_of: UBERON:0001722 ! medial vestibular nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:917 !
+property_value: IAO:0000589 "vagus nerve (MBA)" xsd:string
+intersection_of: UBERON:0001759 ! vagus nerve
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:967 !
+property_value: IAO:0000589 "cranial nerve (MBA)" xsd:string
+intersection_of: UBERON:0001785 ! cranial nerve
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:403 !
+property_value: IAO:0000589 "cerebral hemisphere (MBA)" xsd:string
+intersection_of: UBERON:0001869 ! cerebral hemisphere
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:564 !
+property_value: IAO:0000589 "medial septal nucleus (MBA)" xsd:string
+intersection_of: UBERON:0001877 ! medial septal nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:310 !
+property_value: IAO:0000589 "septofimbrial nucleus (MBA)" xsd:string
+intersection_of: UBERON:0001878 ! septofimbrial nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:596 !
+property_value: IAO:0000589 "nucleus of diagonal band (MBA)" xsd:string
+intersection_of: UBERON:0001879 ! nucleus of diagonal band
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:351 !
+property_value: IAO:0000589 "bed nucleus of stria terminalis (MBA)" xsd:string
+intersection_of: UBERON:0001880 ! bed nucleus of stria terminalis
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:481 !
+property_value: IAO:0000589 "island of Calleja (MBA)" xsd:string
+intersection_of: UBERON:0001881 ! island of Calleja
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:56 !
+property_value: IAO:0000589 "nucleus accumbens (MBA)" xsd:string
+intersection_of: UBERON:0001882 ! nucleus accumbens
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:754 !
+property_value: IAO:0000589 "olfactory tubercle (MBA)" xsd:string
+intersection_of: UBERON:0001883 ! olfactory tubercle
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:726 !
+property_value: IAO:0000589 "dentate gyrus of hippocampal formation (MBA)" xsd:string
+intersection_of: UBERON:0001885 ! dentate gyrus of hippocampal formation
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:108 !
+property_value: IAO:0000589 "choroid plexus (MBA)" xsd:string
+intersection_of: UBERON:0001886 ! choroid plexus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:6 !
+property_value: IAO:0000589 "internal capsule of telencephalon (MBA)" xsd:string
+intersection_of: UBERON:0001887 ! internal capsule of telencephalon
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:665 !
+property_value: IAO:0000589 "lateral olfactory stria (MBA)" xsd:string
+intersection_of: UBERON:0001888 ! lateral olfactory stria
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:313 !
+property_value: IAO:0000589 "midbrain (MBA)" xsd:string
+intersection_of: UBERON:0001891 ! midbrain
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:567 !
+property_value: IAO:0000589 "telencephalon (MBA)" xsd:string
+intersection_of: UBERON:0001893 ! telencephalon
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:1129 !
+property_value: IAO:0000589 "diencephalon (MBA)" xsd:string
+intersection_of: UBERON:0001894 ! diencephalon
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:354 !
+property_value: IAO:0000589 "medulla oblongata (MBA)" xsd:string
+intersection_of: UBERON:0001896 ! medulla oblongata
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:549 !
+property_value: IAO:0000589 "dorsal plus ventral thalamus (MBA)" xsd:string
+intersection_of: UBERON:0001897 ! dorsal plus ventral thalamus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:1097 !
+property_value: IAO:0000589 "hypothalamus (MBA)" xsd:string
+intersection_of: UBERON:0001898 ! hypothalamus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:958 !
+property_value: IAO:0000589 "epithalamus (MBA)" xsd:string
+intersection_of: UBERON:0001899 ! epithalamus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:262 !
+property_value: IAO:0000589 "thalamic reticular nucleus (MBA)" xsd:string
+intersection_of: UBERON:0001903 ! thalamic reticular nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:953 !
+property_value: IAO:0000589 "pineal body (MBA)" xsd:string
+intersection_of: UBERON:0001905 ! pineal body
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:470 !
+property_value: IAO:0000589 "subthalamic nucleus (MBA)" xsd:string
+intersection_of: UBERON:0001906 ! subthalamic nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:797 !
+property_value: IAO:0000589 "zona incerta (MBA)" xsd:string
+intersection_of: UBERON:0001907 ! zona incerta
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:125 !
+property_value: IAO:0000589 "optic tract (MBA)" xsd:string
+intersection_of: UBERON:0001908 ! optic tract
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:611 !
+property_value: IAO:0000589 "habenular commissure (MBA)" xsd:string
+intersection_of: UBERON:0001909 ! habenular commissure
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:54 !
+property_value: IAO:0000589 "medial forebrain bundle (MBA)" xsd:string
+intersection_of: UBERON:0001910 ! medial forebrain bundle
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:149 !
+property_value: IAO:0000589 "paraventricular nucleus of thalamus (MBA)" xsd:string
+intersection_of: UBERON:0001920 ! paraventricular nucleus of thalamus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:181 !
+property_value: IAO:0000589 "reuniens nucleus (MBA)" xsd:string
+intersection_of: UBERON:0001921 ! reuniens nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:930 !
+property_value: IAO:0000589 "parafascicular nucleus (MBA)" xsd:string
+intersection_of: UBERON:0001922 ! parafascicular nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:599 !
+property_value: IAO:0000589 "central medial nucleus (MBA)" xsd:string
+intersection_of: UBERON:0001923 ! central medial nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:907 !
+property_value: IAO:0000589 "paracentral nucleus (MBA)" xsd:string
+intersection_of: UBERON:0001924 ! paracentral nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:475 !
+property_value: IAO:0000589 "medial geniculate body (MBA)" xsd:string
+intersection_of: UBERON:0001927 ! medial geniculate body
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:390 !
+property_value: IAO:0000589 "supraoptic nucleus (MBA)" xsd:string
+intersection_of: UBERON:0001929 ! supraoptic nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:38 !
+property_value: IAO:0000589 "paraventricular nucleus of hypothalamus (MBA)" xsd:string
+intersection_of: UBERON:0001930 ! paraventricular nucleus of hypothalamus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:226 !
+property_value: IAO:0000589 "lateral preoptic nucleus (MBA)" xsd:string
+intersection_of: UBERON:0001931 ! lateral preoptic nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:223 !
+property_value: IAO:0000589 "arcuate nucleus of hypothalamus (MBA)" xsd:string
+intersection_of: UBERON:0001932 ! arcuate nucleus of hypothalamus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:173 !
+property_value: IAO:0000589 "retrochiasmatic area (MBA)" xsd:string
+intersection_of: UBERON:0001933 ! retrochiasmatic area
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:830 !
+property_value: IAO:0000589 "dorsomedial nucleus of hypothalamus (MBA)" xsd:string
+intersection_of: UBERON:0001934 ! dorsomedial nucleus of hypothalamus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:693 !
+property_value: IAO:0000589 "ventromedial nucleus of hypothalamus (MBA)" xsd:string
+intersection_of: UBERON:0001935 ! ventromedial nucleus of hypothalamus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:557 !
+property_value: IAO:0000589 "tuberomammillary nucleus (MBA)" xsd:string
+intersection_of: UBERON:0001936 ! tuberomammillary nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:210 !
+property_value: IAO:0000589 "lateral mammillary nucleus (MBA)" xsd:string
+intersection_of: UBERON:0001938 ! lateral mammillary nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:491 !
+property_value: IAO:0000589 "medial mammillary nucleus (MBA)" xsd:string
+intersection_of: UBERON:0001939 ! medial mammillary nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:525 !
+property_value: IAO:0000589 "supramammillary nucleus (MBA)" xsd:string
+intersection_of: UBERON:0001940 ! supramammillary nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:186 !
+property_value: IAO:0000589 "lateral habenular nucleus (MBA)" xsd:string
+intersection_of: UBERON:0001941 ! lateral habenular nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:483 !
+property_value: IAO:0000589 "medial habenular nucleus (MBA)" xsd:string
+intersection_of: UBERON:0001942 ! medial habenular nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:1100 !
+property_value: IAO:0000589 "pretectal region (MBA)" xsd:string
+intersection_of: UBERON:0001944 ! pretectal region
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:4 !
+property_value: IAO:0000589 "inferior colliculus (MBA)" xsd:string
+intersection_of: UBERON:0001946 ! inferior colliculus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:214 !
+property_value: IAO:0000589 "red nucleus (MBA)" xsd:string
+intersection_of: UBERON:0001947 ! red nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:315 !
+property_value: IAO:0000589 "neocortex (MBA)" xsd:string
+intersection_of: UBERON:0001950 ! neocortex
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:1084 !
+property_value: IAO:0000589 "presubiculum (MBA)" xsd:string
+intersection_of: UBERON:0001953 ! presubiculum
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:375 !
+property_value: IAO:0000589 "Ammon's horn (MBA)" xsd:string
+intersection_of: UBERON:0001954 ! Ammon's horn
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:374 !
+property_value: IAO:0000589 "substantia nigra pars compacta (MBA)" xsd:string
+intersection_of: UBERON:0001965 ! substantia nigra pars compacta
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:381 !
+property_value: IAO:0000589 "substantia nigra pars reticulata (MBA)" xsd:string
+intersection_of: UBERON:0001966 ! substantia nigra pars reticulata
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:717 !
+property_value: IAO:0000589 "accessory XI nerve (MBA)" xsd:string
+intersection_of: UBERON:0002019 ! accessory XI nerve
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:583 !
+property_value: IAO:0000589 "claustrum of brain (MBA)" xsd:string
+intersection_of: UBERON:0002023 ! claustrum of brain
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:1065 !
+property_value: IAO:0000589 "hindbrain (MBA)" xsd:string
+intersection_of: UBERON:0002028 ! hindbrain
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:286 !
+property_value: IAO:0000589 "suprachiasmatic nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002034 ! suprachiasmatic nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:515 !
+property_value: IAO:0000589 "medial preoptic nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002035 ! medial preoptic nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:512 !
+property_value: IAO:0000589 "cerebellum (MBA)" xsd:string
+intersection_of: UBERON:0002037 ! cerebellum
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:872 !
+property_value: IAO:0000589 "dorsal raphe nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002043 ! dorsal raphe nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:587 !
+property_value: IAO:0000589 "ventral nucleus of posterior commissure (MBA)" xsd:string
+intersection_of: UBERON:0002044 ! ventral nucleus of posterior commissure
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:711 !
+property_value: IAO:0000589 "cuneate nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002045 ! cuneate nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:238 !
+property_value: IAO:0000589 "pontine raphe nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002047 ! pontine raphe nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:83 !
+property_value: IAO:0000589 "inferior olivary complex (MBA)" xsd:string
+intersection_of: UBERON:0002127 ! inferior olivary complex
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:398 !
+property_value: IAO:0000589 "superior olivary complex (MBA)" xsd:string
+intersection_of: UBERON:0002128 ! superior olivary complex
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:528 !
+property_value: IAO:0000589 "cerebellar cortex (MBA)" xsd:string
+intersection_of: UBERON:0002129 ! cerebellar cortex
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:519 !
+property_value: IAO:0000589 "cerebellar nuclear complex (MBA)" xsd:string
+intersection_of: UBERON:0002130 ! cerebellar nuclear complex
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:846 !
+property_value: IAO:0000589 "dentate nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002132 ! dentate nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:595 !
+property_value: IAO:0000589 "habenulo-interpeduncular tract (MBA)" xsd:string
+intersection_of: UBERON:0002138 ! habenulo-interpeduncular tract
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:874 !
+property_value: IAO:0000589 "parabigeminal nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002140 ! parabigeminal nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:975 !
+property_value: IAO:0000589 "parvocellular oculomotor nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002141 ! parvocellular oculomotor nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:1052 !
+property_value: IAO:0000589 "pedunculopontine tegmental nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002142 ! pedunculopontine tegmental nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:880 !
+property_value: IAO:0000589 "dorsal tegmental nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002143 ! dorsal tegmental nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:1044 !
+property_value: IAO:0000589 "peripeduncular nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002144 ! peripeduncular nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:100 !
+property_value: IAO:0000589 "interpeduncular nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002145 ! interpeduncular nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:574 !
+property_value: IAO:0000589 "reticulotegmental nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002147 ! reticulotegmental nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:147 !
+property_value: IAO:0000589 "locus ceruleus (MBA)" xsd:string
+intersection_of: UBERON:0002148 ! locus ceruleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:462 !
+property_value: IAO:0000589 "superior salivatory nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002149 ! superior salivatory nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:931 !
+property_value: IAO:0000589 "pontine nuclear group (MBA)" xsd:string
+intersection_of: UBERON:0002151 ! pontine nuclear group
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:78 !
+property_value: IAO:0000589 "middle cerebellar peduncle (MBA)" xsd:string
+intersection_of: UBERON:0002152 ! middle cerebellar peduncle
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:989 !
+property_value: IAO:0000589 "fastigial nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002153 ! fastigial nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:235 !
+property_value: IAO:0000589 "lateral reticular nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002154 ! lateral reticular nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:1048 !
+property_value: IAO:0000589 "gigantocellular nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002155 ! gigantocellular nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:206 !
+property_value: IAO:0000589 "nucleus raphe magnus (MBA)" xsd:string
+intersection_of: UBERON:0002156 ! nucleus raphe magnus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:230 !
+property_value: IAO:0000589 "nucleus raphe pallidus (MBA)" xsd:string
+intersection_of: UBERON:0002157 ! nucleus raphe pallidus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:169 !
+property_value: IAO:0000589 "nucleus prepositus (MBA)" xsd:string
+intersection_of: UBERON:0002160 ! nucleus prepositus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:1039 !
+property_value: IAO:0000589 "gracile nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002161 ! gracile nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:207 !
+property_value: IAO:0000589 "area postrema (MBA)" xsd:string
+intersection_of: UBERON:0002162 ! area postrema
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:1123 !
+property_value: IAO:0000589 "inferior cerebellar peduncle (MBA)" xsd:string
+intersection_of: UBERON:0002163 ! inferior cerebellar peduncle
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:502 !
+property_value: IAO:0000589 "subiculum (MBA)" xsd:string
+intersection_of: UBERON:0002191 ! subiculum
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:116 !
+property_value: IAO:0000589 "ventricular system choroidal fissure (MBA)" xsd:string
+intersection_of: UBERON:0002192 ! ventricular system choroidal fissure
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:10671 !
+property_value: IAO:0000589 "median eminence of neurohypophysis (MBA)" xsd:string
+intersection_of: UBERON:0002197 ! median eminence of neurohypophysis
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:331 !
+property_value: IAO:0000589 "mammillary body (MBA)" xsd:string
+intersection_of: UBERON:0002206 ! mammillary body
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:338 !
+property_value: IAO:0000589 "subfornical organ (MBA)" xsd:string
+intersection_of: UBERON:0002219 ! subfornical organ
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:1073 !
+property_value: IAO:0000589 "cerebellar hemisphere (MBA)" xsd:string
+intersection_of: UBERON:0002245 ! cerebellar hemisphere
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:159 !
+property_value: IAO:0000589 "anterior olfactory nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002266 ! anterior olfactory nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:162 !
+property_value: IAO:0000589 "laterodorsal tegmental nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002267 ! laterodorsal tegmental nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:157 !
+property_value: IAO:0000589 "periventricular zone of hypothalamus (MBA)" xsd:string
+intersection_of: UBERON:0002271 ! periventricular zone of hypothalamus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:467 !
+property_value: IAO:0000589 "medial zone of hypothalamus (MBA)" xsd:string
+intersection_of: UBERON:0002272 ! medial zone of hypothalamus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:290 !
+property_value: IAO:0000589 "lateral zone of hypothalamus (MBA)" xsd:string
+intersection_of: UBERON:0002273 ! lateral zone of hypothalamus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:81 !
+property_value: IAO:0000589 "telencephalic ventricle (MBA)" xsd:string
+intersection_of: UBERON:0002285 ! telencephalic ventricle
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:129 !
+property_value: IAO:0000589 "third ventricle (MBA)" xsd:string
+intersection_of: UBERON:0002286 ! third ventricle
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:140 !
+property_value: IAO:0000589 "midbrain cerebral aqueduct (MBA)" xsd:string
+intersection_of: UBERON:0002289 ! midbrain cerebral aqueduct
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:164 !
+property_value: IAO:0000589 "central canal of spinal cord (MBA)" xsd:string
+intersection_of: UBERON:0002291 ! central canal of spinal cord
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:343 !
+property_value: IAO:0000589 "brainstem (MBA)" xsd:string
+intersection_of: UBERON:0002298 ! brainstem
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:62 !
+property_value: IAO:0000589 "medial longitudinal fasciculus (MBA)" xsd:string
+intersection_of: UBERON:0002309 ! medial longitudinal fasciculus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:603 !
+property_value: IAO:0000589 "hippocampus fimbria (MBA)" xsd:string
+intersection_of: UBERON:0002310 ! hippocampus fimbria
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:776 !
+property_value: IAO:0000589 "corpus callosum (MBA)" xsd:string
+intersection_of: UBERON:0002336 ! corpus callosum
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:1089 !
+property_value: IAO:0000589 "hippocampal formation (MBA)" xsd:string
+intersection_of: UBERON:0002421 ! hippocampal formation
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:145 !
+property_value: IAO:0000589 "fourth ventricle (MBA)" xsd:string
+intersection_of: UBERON:0002422 ! fourth ventricle
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:194 !
+property_value: IAO:0000589 "lateral hypothalamic area (MBA)" xsd:string
+intersection_of: UBERON:0002430 ! lateral hypothalamic area
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:477 !
+property_value: IAO:0000589 "striatum (MBA)" xsd:string
+intersection_of: UBERON:0002435 ! striatum
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:385 !
+property_value: IAO:0000589 "primary visual cortex (MBA)" xsd:string
+intersection_of: UBERON:0002436 ! primary visual cortex
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:757 !
+property_value: IAO:0000589 "ventral tegmental nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002438 ! ventral tegmental nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:752 !
+property_value: IAO:0000589 "cerebellar peduncular complex (MBA)" xsd:string
+intersection_of: UBERON:0002474 ! cerebellar peduncular complex
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:1022 !
+property_value: IAO:0000589 "lateral globus pallidus (MBA)" xsd:string
+intersection_of: UBERON:0002476 ! lateral globus pallidus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:1031 !
+property_value: IAO:0000589 "medial globus pallidus (MBA)" xsd:string
+intersection_of: UBERON:0002477 ! medial globus pallidus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:170 !
+property_value: IAO:0000589 "dorsal lateral geniculate nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002479 ! dorsal lateral geniculate nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:178 !
+property_value: IAO:0000589 "ventral lateral geniculate nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002480 ! ventral lateral geniculate nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:67 !
+property_value: IAO:0000589 "interstitial nucleus of Cajal (MBA)" xsd:string
+intersection_of: UBERON:0002551 ! interstitial nucleus of Cajal
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:1036 !
+property_value: IAO:0000589 "corticotectal tract (MBA)" xsd:string
+intersection_of: UBERON:0002556 ! corticotectal tract
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:395 !
+property_value: IAO:0000589 "medullary reticular formation (MBA)" xsd:string
+intersection_of: UBERON:0002559 ! medullary reticular formation
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:811 !
+property_value: IAO:0000589 "central nucleus of inferior colliculus (MBA)" xsd:string
+intersection_of: UBERON:0002563 ! central nucleus of inferior colliculus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:706 !
+property_value: IAO:0000589 "olivary pretectal nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002565 ! olivary pretectal nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:828 !
+property_value: IAO:0000589 "external nucleus of inferior colliculus (MBA)" xsd:string
+intersection_of: UBERON:0002571 ! external nucleus of inferior colliculus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:146 !
+property_value: IAO:0000589 "pontine reticular formation (MBA)" xsd:string
+intersection_of: UBERON:0002573 ! pontine reticular formation
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:820 !
+property_value: IAO:0000589 "pericentral nucleus of inferior colliculus (MBA)" xsd:string
+intersection_of: UBERON:0002577 ! pericentral nucleus of inferior colliculus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:916 !
+property_value: IAO:0000589 "brachium of superior colliculus (MBA)" xsd:string
+intersection_of: UBERON:0002580 ! brachium of superior colliculus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:336 !
+property_value: IAO:0000589 "commissure of superior colliculus (MBA)" xsd:string
+intersection_of: UBERON:0002583 ! commissure of superior colliculus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:350 !
+property_value: IAO:0000589 "nucleus subceruleus (MBA)" xsd:string
+intersection_of: UBERON:0002587 ! nucleus subceruleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:812 !
+property_value: IAO:0000589 "decussation of superior cerebellar peduncle (MBA)" xsd:string
+intersection_of: UBERON:0002588 ! decussation of superior cerebellar peduncle
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:1019 !
+property_value: IAO:0000589 "lateral corticospinal tract (MBA)" xsd:string
+intersection_of: UBERON:0002589 ! lateral corticospinal tract
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:961 !
+property_value: IAO:0000589 "prepyriform area (MBA)" xsd:string
+intersection_of: UBERON:0002590 ! prepyriform area
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:445 !
+property_value: IAO:0000589 "oral part of spinal trigeminal nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002591 ! oral part of spinal trigeminal nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:650 !
+property_value: IAO:0000589 "juxtarestiform body (MBA)" xsd:string
+intersection_of: UBERON:0002592 ! juxtarestiform body
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:709 !
+property_value: IAO:0000589 "ventral posterior nucleus of thalamus (MBA)" xsd:string
+intersection_of: UBERON:0002596 ! ventral posterior nucleus of thalamus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:7 !
+property_value: IAO:0000589 "principal sensory nucleus of trigeminal nerve (MBA)" xsd:string
+intersection_of: UBERON:0002597 ! principal sensory nucleus of trigeminal nerve
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:982 !
+property_value: IAO:0000589 "fasciolar gyrus (MBA)" xsd:string
+intersection_of: UBERON:0002601 ! fasciolar gyrus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:99 !
+property_value: IAO:0000589 "ventral nucleus of lateral lemniscus (MBA)" xsd:string
+intersection_of: UBERON:0002604 ! ventral nucleus of lateral lemniscus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:607 !
+property_value: IAO:0000589 "cochlear nuclear complex (MBA)" xsd:string
+intersection_of: UBERON:0002610 ! cochlear nuclear complex
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:685 !
+property_value: IAO:0000589 "medial part of ventral lateral nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002614 ! medial part of ventral lateral nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:397 !
+property_value: IAO:0000589 "ventral tegmental decussation (MBA)" xsd:string
+intersection_of: UBERON:0002615 ! ventral tegmental decussation
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:689 !
+property_value: IAO:0000589 "pars postrema of ventral lateral nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002617 ! pars postrema of ventral lateral nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:133 !
+property_value: IAO:0000589 "preoptic periventricular nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002622 ! preoptic periventricular nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:924 !
+property_value: IAO:0000589 "cerebral peduncle (MBA)" xsd:string
+intersection_of: UBERON:0002623 ! cerebral peduncle
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:452 !
+property_value: IAO:0000589 "median preoptic nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002625 ! median preoptic nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:732 !
+property_value: IAO:0000589 "medial part of medial mammillary nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002632 ! medial part of medial mammillary nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:621 !
+property_value: IAO:0000589 "motor nucleus of trigeminal nerve (MBA)" xsd:string
+intersection_of: UBERON:0002633 ! motor nucleus of trigeminal nerve
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:88 !
+property_value: IAO:0000589 "anterior nucleus of hypothalamus (MBA)" xsd:string
+intersection_of: UBERON:0002634 ! anterior nucleus of hypothalamus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:499 !
+property_value: IAO:0000589 "cuneocerebellar tract (MBA)" xsd:string
+intersection_of: UBERON:0002640 ! cuneocerebellar tract
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:636 !
+property_value: IAO:0000589 "magnocellular part of medial dorsal nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002647 ! magnocellular part of medial dorsal nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:705 !
+property_value: IAO:0000589 "mesencephalic tract of trigeminal nerve (MBA)" xsd:string
+intersection_of: UBERON:0002666 ! mesencephalic tract of trigeminal nerve
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:242 !
+property_value: IAO:0000589 "lateral septal nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002667 ! lateral septal nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:134 !
+property_value: IAO:0000589 "pallidotegmental fasciculus (MBA)" xsd:string
+intersection_of: UBERON:0002671 ! pallidotegmental fasciculus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:701 !
+property_value: IAO:0000589 "vestibular nuclear complex (MBA)" xsd:string
+intersection_of: UBERON:0002673 ! vestibular nuclear complex
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:833 !
+property_value: IAO:0000589 "ventral supraoptic decussation (MBA)" xsd:string
+intersection_of: UBERON:0002676 ! ventral supraoptic decussation
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:64 !
+property_value: IAO:0000589 "anterodorsal nucleus of thalamus (MBA)" xsd:string
+intersection_of: UBERON:0002679 ! anterodorsal nucleus of thalamus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:127 !
+property_value: IAO:0000589 "anteromedial nucleus of thalamus (MBA)" xsd:string
+intersection_of: UBERON:0002681 ! anteromedial nucleus of thalamus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:653 !
+property_value: IAO:0000589 "abducens nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002682 ! abducens nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:1071 !
+property_value: IAO:0000589 "rhinal sulcus (MBA)" xsd:string
+intersection_of: UBERON:0002683 ! rhinal sulcus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:222 !
+property_value: IAO:0000589 "nucleus raphe obscurus (MBA)" xsd:string
+intersection_of: UBERON:0002684 ! nucleus raphe obscurus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:255 !
+property_value: IAO:0000589 "anteroventral nucleus of thalamus (MBA)" xsd:string
+intersection_of: UBERON:0002685 ! anteroventral nucleus of thalamus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:763 !
+property_value: IAO:0000589 "supraoptic crest (MBA)" xsd:string
+intersection_of: UBERON:0002689 ! supraoptic crest
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:272 !
+property_value: IAO:0000589 "anteroventral periventricular nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002690 ! anteroventral periventricular nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:749 !
+property_value: IAO:0000589 "ventral tegmental area (MBA)" xsd:string
+intersection_of: UBERON:0002691 ! ventral tegmental area
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:616 !
+property_value: IAO:0000589 "cuneiform nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002696 ! cuneiform nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:825 !
+property_value: IAO:0000589 "dorsal supraoptic decussation (MBA)" xsd:string
+intersection_of: UBERON:0002697 ! dorsal supraoptic decussation
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:1008 !
+property_value: IAO:0000589 "metathalamus (MBA)" xsd:string
+intersection_of: UBERON:0002704 ! metathalamus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:571 !
+property_value: IAO:0000589 "midline nuclear group (MBA)" xsd:string
+intersection_of: UBERON:0002705 ! midline nuclear group
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:946 !
+property_value: IAO:0000589 "posterior nucleus of hypothalamus (MBA)" xsd:string
+intersection_of: UBERON:0002706 ! posterior nucleus of hypothalamus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:190 !
+property_value: IAO:0000589 "corticospinal tract (MBA)" xsd:string
+intersection_of: UBERON:0002707 ! corticospinal tract
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:784 !
+property_value: IAO:0000589 "corticospinal tract (MBA)" xsd:string
+intersection_of: UBERON:0002707 ! corticospinal tract
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:126 !
+property_value: IAO:0000589 "posterior periventricular nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002708 ! posterior periventricular nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:1020 !
+property_value: IAO:0000589 "posterior nuclear complex of thalamus (MBA)" xsd:string
+intersection_of: UBERON:0002709 ! posterior nuclear complex of thalamus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:634 !
+property_value: IAO:0000589 "nucleus of posterior commissure (MBA)" xsd:string
+intersection_of: UBERON:0002711 ! nucleus of posterior commissure
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:863 !
+property_value: IAO:0000589 "rubrospinal tract (MBA)" xsd:string
+intersection_of: UBERON:0002714 ! rubrospinal tract
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:1078 !
+property_value: IAO:0000589 "rostral interstitial nucleus of medial longitudinal fasciculus (MBA)" xsd:string
+intersection_of: UBERON:0002717 ! rostral interstitial nucleus of medial longitudinal fasciculus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:237 !
+property_value: IAO:0000589 "solitary tract (MBA)" xsd:string
+intersection_of: UBERON:0002718 ! solitary tract
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:261 !
+property_value: IAO:0000589 "spino-olivary tract (MBA)" xsd:string
+intersection_of: UBERON:0002719 ! spino-olivary tract
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:673 !
+property_value: IAO:0000589 "mammillary peduncle (MBA)" xsd:string
+intersection_of: UBERON:0002720 ! mammillary peduncle
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:115 !
+property_value: IAO:0000589 "trochlear nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002722 ! trochlear nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:753 !
+property_value: IAO:0000589 "mammillary princeps fasciculus (MBA)" xsd:string
+intersection_of: UBERON:0002723 ! mammillary princeps fasciculus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:909 !
+property_value: IAO:0000589 "entorhinal cortex (MBA)" xsd:string
+intersection_of: UBERON:0002728 ! entorhinal cortex
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:51 !
+property_value: IAO:0000589 "intralaminar nuclear group (MBA)" xsd:string
+intersection_of: UBERON:0002733 ! intralaminar nuclear group
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:138 !
+property_value: IAO:0000589 "lateral nuclear group of thalamus (MBA)" xsd:string
+intersection_of: UBERON:0002736 ! lateral nuclear group of thalamus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:362 !
+property_value: IAO:0000589 "medial dorsal nucleus of thalamus (MBA)" xsd:string
+intersection_of: UBERON:0002739 ! medial dorsal nucleus of thalamus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:118 !
+property_value: IAO:0000589 "intermediate periventricular nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002746 ! intermediate periventricular nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:404 !
+property_value: IAO:0000589 "olivocerebellar tract (MBA)" xsd:string
+intersection_of: UBERON:0002752 ! olivocerebellar tract
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:553 !
+property_value: IAO:0000589 "posterior spinocerebellar tract (MBA)" xsd:string
+intersection_of: UBERON:0002753 ! posterior spinocerebellar tract
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:198 !
+property_value: IAO:0000589 "pyramidal decussation (MBA)" xsd:string
+intersection_of: UBERON:0002755 ! pyramidal decussation
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:1072 !
+property_value: IAO:0000589 "dorsal nucleus of medial geniculate body (MBA)" xsd:string
+intersection_of: UBERON:0002758 ! dorsal nucleus of medial geniculate body
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:1088 !
+property_value: IAO:0000589 "magnocellular nucleus of medial geniculate body (MBA)" xsd:string
+intersection_of: UBERON:0002759 ! magnocellular nucleus of medial geniculate body
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:1028 !
+property_value: IAO:0000589 "ventral corticospinal tract (MBA)" xsd:string
+intersection_of: UBERON:0002760 ! ventral corticospinal tract
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:14 !
+property_value: IAO:0000589 "internal medullary lamina of thalamus (MBA)" xsd:string
+intersection_of: UBERON:0002762 ! internal medullary lamina of thalamus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:941 !
+property_value: IAO:0000589 "vestibulospinal tract (MBA)" xsd:string
+intersection_of: UBERON:0002768 ! vestibulospinal tract
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:637 !
+property_value: IAO:0000589 "ventral nuclear group (MBA)" xsd:string
+intersection_of: UBERON:0002776 ! ventral nuclear group
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:835 !
+property_value: IAO:0000589 "ventral pallidum (MBA)" xsd:string
+intersection_of: UBERON:0002778 ! ventral pallidum
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:114 !
+property_value: IAO:0000589 "lateral superior olivary nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002779 ! lateral superior olivary nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:105 !
+property_value: IAO:0000589 "medial superior olivary nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002782 ! medial superior olivary nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:384 !
+property_value: IAO:0000589 "decussation of trochlear nerve (MBA)" xsd:string
+intersection_of: UBERON:0002787 ! decussation of trochlear nerve
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:239 !
+property_value: IAO:0000589 "anterior nuclear group (MBA)" xsd:string
+intersection_of: UBERON:0002788 ! anterior nuclear group
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:506 !
+property_value: IAO:0000589 "dorsal acoustic stria (MBA)" xsd:string
+intersection_of: UBERON:0002790 ! dorsal acoustic stria
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:184 !
+property_value: IAO:0000589 "frontal pole (MBA)" xsd:string
+intersection_of: UBERON:0002795 ! frontal pole
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:93 !
+property_value: IAO:0000589 "motor root of trigeminal nerve (MBA)" xsd:string
+intersection_of: UBERON:0002796 ! motor root of trigeminal nerve
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:277 !
+property_value: IAO:0000589 "spinothalamic tract of pons (MBA)" xsd:string
+intersection_of: UBERON:0002798 ! spinothalamic tract of pons
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:1112 !
+property_value: IAO:0000589 "posterior superior fissure of cerebellum (MBA)" xsd:string
+intersection_of: UBERON:0002814 ! posterior superior fissure of cerebellum
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:1119 !
+property_value: IAO:0000589 "prepyramidal fissure of cerebellum (MBA)" xsd:string
+intersection_of: UBERON:0002816 ! prepyramidal fissure of cerebellum
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:3 !
+property_value: IAO:0000589 "secondary fissure of cerebellum (MBA)" xsd:string
+intersection_of: UBERON:0002817 ! secondary fissure of cerebellum
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:11 !
+property_value: IAO:0000589 "posterolateral fissure of cerebellum (MBA)" xsd:string
+intersection_of: UBERON:0002818 ! posterolateral fissure of cerebellum
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:101 !
+property_value: IAO:0000589 "ventral cochlear nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002828 ! ventral cochlear nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:96 !
+property_value: IAO:0000589 "dorsal cochlear nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002829 ! dorsal cochlear nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:903 !
+property_value: IAO:0000589 "accessory cuneate nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002864 ! accessory cuneate nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:429 !
+property_value: IAO:0000589 "caudal part of spinal trigeminal nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002866 ! caudal part of spinal trigeminal nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:839 !
+property_value: IAO:0000589 "dorsal motor nucleus of vagus nerve (MBA)" xsd:string
+intersection_of: UBERON:0002870 ! dorsal motor nucleus of vagus nerve
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:773 !
+property_value: IAO:0000589 "hypoglossal nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002871 ! hypoglossal nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:106 !
+property_value: IAO:0000589 "inferior salivatory nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002872 ! inferior salivatory nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:437 !
+property_value: IAO:0000589 "interpolar part of spinal trigeminal nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002873 ! interpolar part of spinal trigeminal nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:161 !
+property_value: IAO:0000589 "nucleus intercalatus (MBA)" xsd:string
+intersection_of: UBERON:0002876 ! nucleus intercalatus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:859 !
+property_value: IAO:0000589 "parasolitary nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002877 ! parasolitary nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:177 !
+property_value: IAO:0000589 "sublingual nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002881 ! sublingual nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:536 !
+property_value: IAO:0000589 "central amygdaloid nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002883 ! central amygdaloid nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:1105 !
+property_value: IAO:0000589 "intercalated amygdaloid nuclei (MBA)" xsd:string
+intersection_of: UBERON:0002884 ! intercalated amygdaloid nuclei
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:131 !
+property_value: IAO:0000589 "lateral amygdaloid nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002886 ! lateral amygdaloid nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:295 !
+property_value: IAO:0000589 "basal amygdaloid nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002887 ! basal amygdaloid nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:319 !
+property_value: IAO:0000589 "medial part of basal amygdaloid nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002889 ! medial part of basal amygdaloid nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:23 !
+property_value: IAO:0000589 "anterior amygdaloid area (MBA)" xsd:string
+intersection_of: UBERON:0002890 ! anterior amygdaloid area
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:631 !
+property_value: IAO:0000589 "cortical amygdaloid nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002891 ! cortical amygdaloid nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:403 !
+property_value: IAO:0000589 "medial amygdaloid nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002892 ! medial amygdaloid nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:619 !
+property_value: IAO:0000589 "nucleus of lateral olfactory tract (MBA)" xsd:string
+intersection_of: UBERON:0002893 ! nucleus of lateral olfactory tract
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:1063 !
+property_value: IAO:0000589 "hippocampal sulcus (MBA)" xsd:string
+intersection_of: UBERON:0002899 ! hippocampal sulcus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:890 !
+property_value: IAO:0000589 "medial parabrachial nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002918 ! medial parabrachial nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:885 !
+property_value: IAO:0000589 "terminal nerve (MBA)" xsd:string
+intersection_of: UBERON:0002924 ! terminal nerve
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:10704 !
+property_value: IAO:0000589 "dentate gyrus polymorphic layer (MBA)" xsd:string
+intersection_of: UBERON:0002928 ! dentate gyrus polymorphic layer
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:841 !
+property_value: IAO:0000589 "trapezoid body (MBA)" xsd:string
+intersection_of: UBERON:0002932 ! trapezoid body
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:287 !
+property_value: IAO:0000589 "nucleus of anterior commissure (MBA)" xsd:string
+intersection_of: UBERON:0002933 ! nucleus of anterior commissure
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:718 !
+property_value: IAO:0000589 "ventral posterolateral nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002942 ! ventral posterolateral nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:733 !
+property_value: IAO:0000589 "ventral posteromedial nucleus of thalamus (MBA)" xsd:string
+intersection_of: UBERON:0002945 ! ventral posteromedial nucleus of thalamus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:877 !
+property_value: IAO:0000589 "tectospinal tract (MBA)" xsd:string
+intersection_of: UBERON:0002949 ! tectospinal tract
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:641 !
+property_value: IAO:0000589 "intermediate acoustic stria (MBA)" xsd:string
+intersection_of: UBERON:0002952 ! intermediate acoustic stria
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:658 !
+property_value: IAO:0000589 "lateral lemniscus (MBA)" xsd:string
+intersection_of: UBERON:0002953 ! lateral lemniscus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:189 !
+property_value: IAO:0000589 "rhomboidal nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002955 ! rhomboidal nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:1143 !
+property_value: IAO:0000589 "granular layer of cerebellar cortex (MBA)" xsd:string
+intersection_of: UBERON:0002956 ! granular layer of cerebellar cortex
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:1093 !
+property_value: IAO:0000589 "caudal pontine reticular nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002963 ! caudal pontine reticular nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:898 !
+property_value: IAO:0000589 "central gray substance of pons (MBA)" xsd:string
+intersection_of: UBERON:0002968 ! central gray substance of pons
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:122 !
+property_value: IAO:0000589 "periolivary nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002971 ! periolivary nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:1144 !
+property_value: IAO:0000589 "molecular layer of cerebellar cortex (MBA)" xsd:string
+intersection_of: UBERON:0002974 ! molecular layer of cerebellar cortex
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:581 !
+property_value: IAO:0000589 "triangular septal nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002977 ! triangular septal nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:1145 !
+property_value: IAO:0000589 "Purkinje cell layer of cerebellar cortex (MBA)" xsd:string
+intersection_of: UBERON:0002979 ! Purkinje cell layer of cerebellar cortex
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:218 !
+property_value: IAO:0000589 "lateral posterior nucleus of thalamus (MBA)" xsd:string
+intersection_of: UBERON:0002983 ! lateral posterior nucleus of thalamus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:155 !
+property_value: IAO:0000589 "lateral dorsal nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002984 ! lateral dorsal nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:1079 !
+property_value: IAO:0000589 "ventral nucleus of medial geniculate body (MBA)" xsd:string
+intersection_of: UBERON:0002985 ! ventral nucleus of medial geniculate body
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:866 !
+property_value: IAO:0000589 "anterior spinocerebellar tract (MBA)" xsd:string
+intersection_of: UBERON:0002987 ! anterior spinocerebellar tract
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:341 !
+property_value: IAO:0000589 "supramammillary commissure (MBA)" xsd:string
+intersection_of: UBERON:0002991 ! supramammillary commissure
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:15 !
+property_value: IAO:0000589 "paratenial nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002992 ! paratenial nucleus
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: MBA:615 !
+property_value: IAO:0000589 "substantia nigra pars lateralis (MBA)" xsd:string
intersection_of: UBERON:0002995 ! substantia nigra pars lateralis
intersection_of: part_of NCBITaxon:10090
[Term]
-id: ABA:CTX1 !
-property_value: IAO:0000589 "cortical layer I (ABA)" xsd:string
-intersection_of: UBERON:0005390 ! cortical layer I
+id: MBA:628 !
+property_value: IAO:0000589 "nucleus of optic tract (MBA)" xsd:string
+intersection_of: UBERON:0002996 ! nucleus of optic tract
intersection_of: part_of NCBITaxon:10090
[Term]
-id: ABA:CTX2 !
-property_value: IAO:0000589 "cortical layer II (ABA)" xsd:string
-intersection_of: UBERON:0005391 ! cortical layer II
+id: MBA:552 !
+property_value: IAO:0000589 "oral pontine reticular nucleus (MBA)" xsd:string
+intersection_of: UBERON:0002999 ! oral pontine reticular nucleus
intersection_of: part_of NCBITaxon:10090
[Term]
-id: ABA:CTX3 !
-property_value: IAO:0000589 "cortical layer III (ABA)" xsd:string
-intersection_of: UBERON:0005392 ! cortical layer III
+id: MBA:697 !
+property_value: IAO:0000589 "medial lemniscus (MBA)" xsd:string
+intersection_of: UBERON:0003002 ! medial lemniscus
intersection_of: part_of NCBITaxon:10090
[Term]
-id: ABA:CTX4 !
-property_value: IAO:0000589 "cortical layer IV (ABA)" xsd:string
-intersection_of: UBERON:0005393 ! cortical layer IV
+id: MBA:679 !
+property_value: IAO:0000589 "median raphe nucleus (MBA)" xsd:string
+intersection_of: UBERON:0003004 ! median raphe nucleus
intersection_of: part_of NCBITaxon:10090
[Term]
-id: ABA:CTX5 !
-property_value: IAO:0000589 "cortical layer V (ABA)" xsd:string
-intersection_of: UBERON:0005394 ! cortical layer V
+id: MBA:82 !
+property_value: IAO:0000589 "dorsal nucleus of lateral lemniscus (MBA)" xsd:string
+intersection_of: UBERON:0003006 ! dorsal nucleus of lateral lemniscus
intersection_of: part_of NCBITaxon:10090
[Term]
-id: ABA:CTX6 !
-property_value: IAO:0000589 "cortical layer VI (ABA)" xsd:string
-intersection_of: UBERON:0005395 ! cortical layer VI
+id: MBA:881 !
+property_value: IAO:0000589 "lateral parabrachial n...
[truncated message content] |
|
From: <cmu...@us...> - 2015-01-02 02:26:10
|
Revision: 5238
http://sourceforge.net/p/obo/svn/5238
Author: cmungall
Date: 2015-01-02 02:26:07 +0000 (Fri, 02 Jan 2015)
Log Message:
-----------
ABA is now MBA
Added Paths:
-----------
uberon/trunk/bridge/uberon-bridge-to-mba.obo
uberon/trunk/bridge/uberon-bridge-to-mba.owl
Removed Paths:
-------------
uberon/trunk/bridge/uberon-bridge-to-aba.obo
uberon/trunk/bridge/uberon-bridge-to-aba.owl
Deleted: uberon/trunk/bridge/uberon-bridge-to-aba.obo
===================================================================
--- uberon/trunk/bridge/uberon-bridge-to-aba.obo 2015-01-02 01:10:21 UTC (rev 5237)
+++ uberon/trunk/bridge/uberon-bridge-to-aba.obo 2015-01-02 02:26:07 UTC (rev 5238)
@@ -1,177 +0,0 @@
-ontology: uberon/bridge/uberon-bridge-to-aba
-data-version: 2015-01-01
-property_value: seeAlso "http://purl.obolibrary.org/obo/uberon/references/reference_0000026" xsd:anyURI
-
-[Term]
-id: ABA:Brain !
-property_value: IAO:0000589 "brain (ABA)" xsd:string
-intersection_of: UBERON:0000955 ! brain
-intersection_of: part_of NCBITaxon:10090
-
-[Term]
-id: ABA:CTX1-6b !
-property_value: IAO:0000589 "layer of neocortex (ABA)" xsd:string
-intersection_of: UBERON:0002301 ! layer of neocortex
-intersection_of: part_of NCBITaxon:10090
-
-[Term]
-id: ABA:SNI !
-property_value: IAO:0000589 "substantia nigra pars lateralis (ABA)" xsd:string
-intersection_of: UBERON:0002995 ! substantia nigra pars lateralis
-intersection_of: part_of NCBITaxon:10090
-
-[Term]
-id: ABA:CTX1 !
-property_value: IAO:0000589 "cortical layer I (ABA)" xsd:string
-intersection_of: UBERON:0005390 ! cortical layer I
-intersection_of: part_of NCBITaxon:10090
-
-[Term]
-id: ABA:CTX2 !
-property_value: IAO:0000589 "cortical layer II (ABA)" xsd:string
-intersection_of: UBERON:0005391 ! cortical layer II
-intersection_of: part_of NCBITaxon:10090
-
-[Term]
-id: ABA:CTX3 !
-property_value: IAO:0000589 "cortical layer III (ABA)" xsd:string
-intersection_of: UBERON:0005392 ! cortical layer III
-intersection_of: part_of NCBITaxon:10090
-
-[Term]
-id: ABA:CTX4 !
-property_value: IAO:0000589 "cortical layer IV (ABA)" xsd:string
-intersection_of: UBERON:0005393 ! cortical layer IV
-intersection_of: part_of NCBITaxon:10090
-
-[Term]
-id: ABA:CTX5 !
-property_value: IAO:0000589 "cortical layer V (ABA)" xsd:string
-intersection_of: UBERON:0005394 ! cortical layer V
-intersection_of: part_of NCBITaxon:10090
-
-[Term]
-id: ABA:CTX6 !
-property_value: IAO:0000589 "cortical layer VI (ABA)" xsd:string
-intersection_of: UBERON:0005395 ! cortical layer VI
-intersection_of: part_of NCBITaxon:10090
-
-[Term]
-id: ABA:ENTITY
-name: ABA entity
-intersection_of: UBERON:0001062 ! anatomical entity
-intersection_of: part_of NCBITaxon:10090
-relationship: only_in_taxon NCBITaxon:10090
-
-[Typedef]
-id: part_of
-xref: BFO:0000050
-is_transitive: true
-
-[Typedef]
-id: only_in_taxon
-xref: RO:0002160
-
-[Typedef]
-id: http://purl.obolibrary.org/obo/aba#part_of
-equivalent_to: BFO:0000050
-
-[Typedef]
-id: http://purl.obolibrary.org/obo/aba#develops_from
-equivalent_to: RO:0002225
-
-[Typedef]
-id: foaf-depicted_by
-name: depicted_by
-is_metadata_tag: true
-xref: http://xmlns.com/foaf/0.1/depicted_by
-
-[Typedef]
-id: foaf-homepage
-name: homepage
-is_metadata_tag: true
-xref: http://xmlns.com/foaf/0.1/homepage
-
-[Typedef]
-id: dc-title
-name: title
-is_metadata_tag: true
-xref: http://purl.org/dc/elements/1.1/title
-
-[Typedef]
-id: dc-contributor
-name: contributor
-is_metadata_tag: true
-xref: http://purl.org/dc/elements/1.1/contributor
-
-[Typedef]
-id: dc-creator
-name: creator
-is_metadata_tag: true
-xref: http://purl.org/dc/elements/1.1/creator
-
-[Typedef]
-id: dc-publisher
-name: publisher
-is_metadata_tag: true
-xref: http://purl.org/dc/elements/1.1/publisher
-
-[Typedef]
-id: dc-description
-name: description
-is_metadata_tag: true
-xref: http://purl.org/dc/elements/1.1/description
-
-[Typedef]
-id: dc-source
-name: derived from resource
-is_metadata_tag: true
-xref: http://purl.org/dc/elements/1.1/source
-
-[Typedef]
-id: dcterms-isReferencedBy
-name: is referenced by
-is_metadata_tag: true
-xref: http://purl.org/dc/terms/isReferencedBy
-
-[Typedef]
-id: dcterms-references
-name: references
-is_metadata_tag: true
-xref: http://purl.org/dc/terms/references
-
-[Typedef]
-id: doap-GitRepository
-name: Git repository
-is_metadata_tag: true
-xref: http://usefulinc.com/ns/doap#GitRepository
-
-[Typedef]
-id: doap-SVNRepository
-name: SVN repository
-is_metadata_tag: true
-xref: http://usefulinc.com/ns/doap#SVNRepository
-
-[Typedef]
-id: doap-wiki
-name: wiki
-is_metadata_tag: true
-xref: http://usefulinc.com/ns/doap#wiki
-
-[Typedef]
-id: doap-bug-database
-name: bug database
-is_metadata_tag: true
-xref: http://usefulinc.com/ns/doap#bug-database
-
-[Typedef]
-id: seeAlso
-name: see also
-is_metadata_tag: true
-xref: http://www.w3.org/2000/01/rdf-schema#seeAlso
-
-[Typedef]
-id: example_of_usage
-name: example of usage
-is_metadata_tag: true
-xref: IAO:0000122
Deleted: uberon/trunk/bridge/uberon-bridge-to-aba.owl
===================================================================
--- uberon/trunk/bridge/uberon-bridge-to-aba.owl 2015-01-02 01:10:21 UTC (rev 5237)
+++ uberon/trunk/bridge/uberon-bridge-to-aba.owl 2015-01-02 02:26:07 UTC (rev 5238)
@@ -1,606 +0,0 @@
-<?xml version="1.0"?>
-<rdf:RDF xmlns="http://purl.obolibrary.org/obo/uberon/bridge/uberon-bridge-to-aba.owl#"
- xml:base="http://purl.obolibrary.org/obo/uberon/bridge/uberon-bridge-to-aba.owl"
- xmlns:dc="http://purl.org/dc/elements/1.1/"
- xmlns:obo="http://purl.obolibrary.org/obo/"
- xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#"
- xmlns:foaf="http://xmlns.com/foaf/0.1/"
- xmlns:terms="http://purl.org/dc/terms/"
- xmlns:owl="http://www.w3.org/2002/07/owl#"
- xmlns:xsd="http://www.w3.org/2001/XMLSchema#"
- xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#"
- xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"
- xmlns:doap="http://usefulinc.com/ns/doap#">
- <owl:Ontology rdf:about="http://purl.obolibrary.org/obo/uberon/bridge/uberon-bridge-to-aba.owl">
- <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">http://purl.obolibrary.org/obo/uberon/references/reference_0000026</rdfs:seeAlso>
- <owl:versionIRI rdf:resource="http://purl.obolibrary.org/obo/uberon/bridge/uberon-bridge-to-aba/2015-01-01/uberon/bridge/uberon-bridge-to-aba.owl"/>
- </owl:Ontology>
-
-
-
- <!--
- ///////////////////////////////////////////////////////////////////////////////////////
- //
- // Annotation properties
- //
- ///////////////////////////////////////////////////////////////////////////////////////
- -->
-
-
-
-
- <!-- http://purl.obolibrary.org/obo/IAO_0000122 -->
-
- <owl:AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000122">
- <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">example of usage</rdfs:label>
- <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">IAO:0000122</oboInOwl:hasDbXref>
- <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">example_of_usage</oboInOwl:id>
- <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">example_of_usage</oboInOwl:shorthand>
- <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
- </owl:AnnotationProperty>
-
-
-
- <!-- http://purl.obolibrary.org/obo/IAO_0000589 -->
-
- <owl:AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000589"/>
-
-
-
- <!-- http://purl.org/dc/elements/1.1/contributor -->
-
- <owl:AnnotationProperty rdf:about="http://purl.org/dc/elements/1.1/contributor">
- <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">contributor</rdfs:label>
- <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dc-contributor</oboInOwl:shorthand>
- <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dc-contributor</oboInOwl:id>
- <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://purl.org/dc/elements/1.1/contributor</oboInOwl:hasDbXref>
- <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
- </owl:AnnotationProperty>
-
-
-
- <!-- http://purl.org/dc/elements/1.1/creator -->
-
- <owl:AnnotationProperty rdf:about="http://purl.org/dc/elements/1.1/creator">
- <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">creator</rdfs:label>
- <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dc-creator</oboInOwl:shorthand>
- <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dc-creator</oboInOwl:id>
- <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://purl.org/dc/elements/1.1/creator</oboInOwl:hasDbXref>
- <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
- </owl:AnnotationProperty>
-
-
-
- <!-- http://purl.org/dc/elements/1.1/description -->
-
- <owl:AnnotationProperty rdf:about="http://purl.org/dc/elements/1.1/description">
- <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">description</rdfs:label>
- <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dc-description</oboInOwl:shorthand>
- <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dc-description</oboInOwl:id>
- <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://purl.org/dc/elements/1.1/description</oboInOwl:hasDbXref>
- <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
- </owl:AnnotationProperty>
-
-
-
- <!-- http://purl.org/dc/elements/1.1/publisher -->
-
- <owl:AnnotationProperty rdf:about="http://purl.org/dc/elements/1.1/publisher">
- <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">publisher</rdfs:label>
- <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dc-publisher</oboInOwl:shorthand>
- <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dc-publisher</oboInOwl:id>
- <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://purl.org/dc/elements/1.1/publisher</oboInOwl:hasDbXref>
- <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
- </owl:AnnotationProperty>
-
-
-
- <!-- http://purl.org/dc/elements/1.1/source -->
-
- <owl:AnnotationProperty rdf:about="http://purl.org/dc/elements/1.1/source">
- <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">derived from resource</rdfs:label>
- <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dc-source</oboInOwl:id>
- <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dc-source</oboInOwl:shorthand>
- <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://purl.org/dc/elements/1.1/source</oboInOwl:hasDbXref>
- <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
- </owl:AnnotationProperty>
-
-
-
- <!-- http://purl.org/dc/elements/1.1/title -->
-
- <owl:AnnotationProperty rdf:about="http://purl.org/dc/elements/1.1/title">
- <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">title</rdfs:label>
- <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dc-title</oboInOwl:id>
- <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dc-title</oboInOwl:shorthand>
- <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://purl.org/dc/elements/1.1/title</oboInOwl:hasDbXref>
- <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
- </owl:AnnotationProperty>
-
-
-
- <!-- http://purl.org/dc/terms/isReferencedBy -->
-
- <owl:AnnotationProperty rdf:about="http://purl.org/dc/terms/isReferencedBy">
- <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">is referenced by</rdfs:label>
- <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dcterms-isReferencedBy</oboInOwl:shorthand>
- <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dcterms-isReferencedBy</oboInOwl:id>
- <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://purl.org/dc/terms/isReferencedBy</oboInOwl:hasDbXref>
- <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
- </owl:AnnotationProperty>
-
-
-
- <!-- http://purl.org/dc/terms/references -->
-
- <owl:AnnotationProperty rdf:about="http://purl.org/dc/terms/references">
- <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">references</rdfs:label>
- <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dcterms-references</oboInOwl:shorthand>
- <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dcterms-references</oboInOwl:id>
- <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://purl.org/dc/terms/references</oboInOwl:hasDbXref>
- <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
- </owl:AnnotationProperty>
-
-
-
- <!-- http://usefulinc.com/ns/doap#GitRepository -->
-
- <owl:AnnotationProperty rdf:about="http://usefulinc.com/ns/doap#GitRepository">
- <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Git repository</rdfs:label>
- <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">doap-GitRepository</oboInOwl:id>
- <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">doap-GitRepository</oboInOwl:shorthand>
- <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://usefulinc.com/ns/doap#GitRepository</oboInOwl:hasDbXref>
- <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
- </owl:AnnotationProperty>
-
-
-
- <!-- http://usefulinc.com/ns/doap#SVNRepository -->
-
- <owl:AnnotationProperty rdf:about="http://usefulinc.com/ns/doap#SVNRepository">
- <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">SVN repository</rdfs:label>
- <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">doap-SVNRepository</oboInOwl:id>
- <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">doap-SVNRepository</oboInOwl:shorthand>
- <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://usefulinc.com/ns/doap#SVNRepository</oboInOwl:hasDbXref>
- <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
- </owl:AnnotationProperty>
-
-
-
- <!-- http://usefulinc.com/ns/doap#bug-database -->
-
- <owl:AnnotationProperty rdf:about="http://usefulinc.com/ns/doap#bug-database">
- <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">bug database</rdfs:label>
- <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">doap-bug-database</oboInOwl:shorthand>
- <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">doap-bug-database</oboInOwl:id>
- <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://usefulinc.com/ns/doap#bug-database</oboInOwl:hasDbXref>
- <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
- </owl:AnnotationProperty>
-
-
-
- <!-- http://usefulinc.com/ns/doap#wiki -->
-
- <owl:AnnotationProperty rdf:about="http://usefulinc.com/ns/doap#wiki">
- <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">wiki</rdfs:label>
- <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">doap-wiki</oboInOwl:shorthand>
- <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">doap-wiki</oboInOwl:id>
- <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://usefulinc.com/ns/doap#wiki</oboInOwl:hasDbXref>
- <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
- </owl:AnnotationProperty>
-
-
-
- <!-- http://www.geneontology.org/formats/oboInOwl#hasDbXref -->
-
- <owl:AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasDbXref">
- <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">database_cross_reference</rdfs:label>
- </owl:AnnotationProperty>
-
-
-
- <!-- http://www.geneontology.org/formats/oboInOwl#id -->
-
- <owl:AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#id"/>
-
-
-
- <!-- http://www.geneontology.org/formats/oboInOwl#is_metadata_tag -->
-
- <owl:AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#is_metadata_tag"/>
-
-
-
- <!-- http://www.geneontology.org/formats/oboInOwl#shorthand -->
-
- <owl:AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#shorthand">
- <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">shorthand</rdfs:label>
- </owl:AnnotationProperty>
-
-
-
- <!-- http://www.w3.org/2000/01/rdf-schema#label -->
-
- <owl:AnnotationProperty rdf:about="http://www.w3.org/2000/01/rdf-schema#label"/>
-
-
-
- <!-- http://www.w3.org/2000/01/rdf-schema#seeAlso -->
-
- <owl:AnnotationProperty rdf:about="http://www.w3.org/2000/01/rdf-schema#seeAlso">
- <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">see also</rdfs:label>
- <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://www.w3.org/2000/01/rdf-schema#seeAlso</oboInOwl:hasDbXref>
- <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">seeAlso</oboInOwl:id>
- <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">seeAlso</oboInOwl:shorthand>
- <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
- </owl:AnnotationProperty>
-
-
-
- <!-- http://xmlns.com/foaf/0.1/depicted_by -->
-
- <owl:AnnotationProperty rdf:about="http://xmlns.com/foaf/0.1/depicted_by">
- <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">depicted_by</rdfs:label>
- <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">foaf-depicted_by</oboInOwl:shorthand>
- <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">foaf-depicted_by</oboInOwl:id>
- <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://xmlns.com/foaf/0.1/depicted_by</oboInOwl:hasDbXref>
- <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
- </owl:AnnotationProperty>
-
-
-
- <!-- http://xmlns.com/foaf/0.1/homepage -->
-
- <owl:AnnotationProperty rdf:about="http://xmlns.com/foaf/0.1/homepage">
- <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">homepage</rdfs:label>
- <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">foaf-homepage</oboInOwl:id>
- <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">foaf-homepage</oboInOwl:shorthand>
- <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://xmlns.com/foaf/0.1/homepage</oboInOwl:hasDbXref>
- <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
- </owl:AnnotationProperty>
-
-
-
- <!--
- ///////////////////////////////////////////////////////////////////////////////////////
- //
- // Object Properties
- //
- ///////////////////////////////////////////////////////////////////////////////////////
- -->
-
-
-
-
- <!-- http://purl.obolibrary.org/obo/BFO_0000050 -->
-
- <owl:ObjectProperty rdf:about="http://purl.obolibrary.org/obo/BFO_0000050">
- <rdf:type rdf:resource="http://www.w3.org/2002/07/owl#TransitiveProperty"/>
- <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">BFO:0000050</oboInOwl:hasDbXref>
- <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">part_of</oboInOwl:id>
- <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">part_of</oboInOwl:shorthand>
- <owl:equivalentProperty rdf:resource="http://purl.obolibrary.org/obo/aba#part_of"/>
- </owl:ObjectProperty>
-
-
-
- <!-- http://purl.obolibrary.org/obo/RO_0002160 -->
-
- <owl:ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0002160">
- <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">RO:0002160</oboInOwl:hasDbXref>
- <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">only_in_taxon</oboInOwl:id>
- <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">only_in_taxon</oboInOwl:shorthand>
- </owl:ObjectProperty>
-
-
-
- <!-- http://purl.obolibrary.org/obo/RO_0002225 -->
-
- <owl:ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0002225">
- <owl:equivalentProperty rdf:resource="http://purl.obolibrary.org/obo/aba#develops_from"/>
- </owl:ObjectProperty>
-
-
-
- <!-- http://purl.obolibrary.org/obo/aba#develops_from -->
-
- <owl:ObjectProperty rdf:about="http://purl.obolibrary.org/obo/aba#develops_from">
- <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://purl.obolibrary.org/obo/aba#develops_from</oboInOwl:id>
- </owl:ObjectProperty>
-
-
-
- <!-- http://purl.obolibrary.org/obo/aba#part_of -->
-
- <owl:ObjectProperty rdf:about="http://purl.obolibrary.org/obo/aba#part_of">
- <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://purl.obolibrary.org/obo/aba#part_of</oboInOwl:id>
- </owl:ObjectProperty>
-
-
-
- <!--
- ///////////////////////////////////////////////////////////////////////////////////////
- //
- // Classes
- //
- ///////////////////////////////////////////////////////////////////////////////////////
- -->
-
-
-
-
- <!-- http://purl.obolibrary.org/obo/ABA_Brain -->
-
- <owl:Class rdf:about="http://purl.obolibrary.org/obo/ABA_Brain">
- <owl:equivalentClass>
- <owl:Class>
- <owl:intersectionOf rdf:parseType="Collection">
- <rdf:Description rdf:about="http://purl.obolibrary.org/obo/UBERON_0000955"/>
- <owl:Restriction>
- <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/BFO_0000050"/>
- <owl:someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/NCBITaxon_10090"/>
- </owl:Restriction>
- </owl:intersectionOf>
- </owl:Class>
- </owl:equivalentClass>
- <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">ABA:Brain</oboInOwl:id>
- <obo:IAO_0000589 rdf:datatype="http://www.w3.org/2001/XMLSchema#string">brain (ABA)</obo:IAO_0000589>
- </owl:Class>
-
-
-
- <!-- http://purl.obolibrary.org/obo/ABA_CTX1 -->
-
- <owl:Class rdf:about="http://purl.obolibrary.org/obo/ABA_CTX1">
- <owl:equivalentClass>
- <owl:Class>
- <owl:intersectionOf rdf:parseType="Collection">
- <rdf:Description rdf:about="http://purl.obolibrary.org/obo/UBERON_0005390"/>
- <owl:Restriction>
- <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/BFO_0000050"/>
- <owl:someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/NCBITaxon_10090"/>
- </owl:Restriction>
- </owl:intersectionOf>
- </owl:Class>
- </owl:equivalentClass>
- <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">ABA:CTX1</oboInOwl:id>
- <obo:IAO_0000589 rdf:datatype="http://www.w3.org/2001/XMLSchema#string">cortical layer I (ABA)</obo:IAO_0000589>
- </owl:Class>
-
-
-
- <!-- http://purl.obolibrary.org/obo/ABA_CTX1-6b -->
-
- <owl:Class rdf:about="http://purl.obolibrary.org/obo/ABA_CTX1-6b">
- <owl:equivalentClass>
- <owl:Class>
- <owl:intersectionOf rdf:parseType="Collection">
- <rdf:Description rdf:about="http://purl.obolibrary.org/obo/UBERON_0002301"/>
- <owl:Restriction>
- <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/BFO_0000050"/>
- <owl:someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/NCBITaxon_10090"/>
- </owl:Restriction>
- </owl:intersectionOf>
- </owl:Class>
- </owl:equivalentClass>
- <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">ABA:CTX1-6b</oboInOwl:id>
- <obo:IAO_0000589 rdf:datatype="http://www.w3.org/2001/XMLSchema#string">layer of neocortex (ABA)</obo:IAO_0000589>
- </owl:Class>
-
-
-
- <!-- http://purl.obolibrary.org/obo/ABA_CTX2 -->
-
- <owl:Class rdf:about="http://purl.obolibrary.org/obo/ABA_CTX2">
- <owl:equivalentClass>
- <owl:Class>
- <owl:intersectionOf rdf:parseType="Collection">
- <rdf:Description rdf:about="http://purl.obolibrary.org/obo/UBERON_0005391"/>
- <owl:Restriction>
- <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/BFO_0000050"/>
- <owl:someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/NCBITaxon_10090"/>
- </owl:Restriction>
- </owl:intersectionOf>
- </owl:Class>
- </owl:equivalentClass>
- <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">ABA:CTX2</oboInOwl:id>
- <obo:IAO_0000589 rdf:datatype="http://www.w3.org/2001/XMLSchema#string">cortical layer II (ABA)</obo:IAO_0000589>
- </owl:Class>
-
-
-
- <!-- http://purl.obolibrary.org/obo/ABA_CTX3 -->
-
- <owl:Class rdf:about="http://purl.obolibrary.org/obo/ABA_CTX3">
- <owl:equivalentClass>
- <owl:Class>
- <owl:intersectionOf rdf:parseType="Collection">
- <rdf:Description rdf:about="http://purl.obolibrary.org/obo/UBERON_0005392"/>
- <owl:Restriction>
- <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/BFO_0000050"/>
- <owl:someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/NCBITaxon_10090"/>
- </owl:Restriction>
- </owl:intersectionOf>
- </owl:Class>
- </owl:equivalentClass>
- <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">ABA:CTX3</oboInOwl:id>
- <obo:IAO_0000589 rdf:datatype="http://www.w3.org/2001/XMLSchema#string">cortical layer III (ABA)</obo:IAO_0000589>
- </owl:Class>
-
-
-
- <!-- http://purl.obolibrary.org/obo/ABA_CTX4 -->
-
- <owl:Class rdf:about="http://purl.obolibrary.org/obo/ABA_CTX4">
- <owl:equivalentClass>
- <owl:Class>
- <owl:intersectionOf rdf:parseType="Collection">
- <rdf:Description rdf:about="http://purl.obolibrary.org/obo/UBERON_0005393"/>
- <owl:Restriction>
- <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/BFO_0000050"/>
- <owl:someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/NCBITaxon_10090"/>
- </owl:Restriction>
- </owl:intersectionOf>
- </owl:Class>
- </owl:equivalentClass>
- <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">ABA:CTX4</oboInOwl:id>
- <obo:IAO_0000589 rdf:datatype="http://www.w3.org/2001/XMLSchema#string">cortical layer IV (ABA)</obo:IAO_0000589>
- </owl:Class>
-
-
-
- <!-- http://purl.obolibrary.org/obo/ABA_CTX5 -->
-
- <owl:Class rdf:about="http://purl.obolibrary.org/obo/ABA_CTX5">
- <owl:equivalentClass>
- <owl:Class>
- <owl:intersectionOf rdf:parseType="Collection">
- <rdf:Description rdf:about="http://purl.obolibrary.org/obo/UBERON_0005394"/>
- <owl:Restriction>
- <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/BFO_0000050"/>
- <owl:someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/NCBITaxon_10090"/>
- </owl:Restriction>
- </owl:intersectionOf>
- </owl:Class>
- </owl:equivalentClass>
- <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">ABA:CTX5</oboInOwl:id>
- <obo:IAO_0000589 rdf:datatype="http://www.w3.org/2001/XMLSchema#string">cortical layer V (ABA)</obo:IAO_0000589>
- </owl:Class>
-
-
-
- <!-- http://purl.obolibrary.org/obo/ABA_CTX6 -->
-
- <owl:Class rdf:about="http://purl.obolibrary.org/obo/ABA_CTX6">
- <owl:equivalentClass>
- <owl:Class>
- <owl:intersectionOf rdf:parseType="Collection">
- <rdf:Description rdf:about="http://purl.obolibrary.org/obo/UBERON_0005395"/>
- <owl:Restriction>
- <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/BFO_0000050"/>
- <owl:someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/NCBITaxon_10090"/>
- </owl:Restriction>
- </owl:intersectionOf>
- </owl:Class>
- </owl:equivalentClass>
- <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">ABA:CTX6</oboInOwl:id>
- <obo:IAO_0000589 rdf:datatype="http://www.w3.org/2001/XMLSchema#string">cortical layer VI (ABA)</obo:IAO_0000589>
- </owl:Class>
-
-
-
- <!-- http://purl.obolibrary.org/obo/ABA_ENTITY -->
-
- <owl:Class rdf:about="http://purl.obolibrary.org/obo/ABA_ENTITY">
- <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">ABA entity</rdfs:label>
- <owl:equivalentClass>
- <owl:Class>
- <owl:intersectionOf rdf:parseType="Collection">
- <rdf:Description rdf:about="http://purl.obolibrary.org/obo/UBERON_0001062"/>
- <owl:Restriction>
- <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/BFO_0000050"/>
- <owl:someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/NCBITaxon_10090"/>
- </owl:Restriction>
- </owl:intersectionOf>
- </owl:Class>
- </owl:equivalentClass>
- <rdfs:subClassOf>
- <owl:Restriction>
- <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0002160"/>
- <owl:someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/NCBITaxon_10090"/>
- </owl:Restriction>
- </rdfs:subClassOf>
- <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">ABA:ENTITY</oboInOwl:id>
- </owl:Class>
-
-
-
- <!-- http://purl.obolibrary.org/obo/ABA_SNI -->
-
- <owl:Class rdf:about="http://purl.obolibrary.org/obo/ABA_SNI">
- <owl:equivalentClass>
- <owl:Class>
- <owl:intersectionOf rdf:parseType="Collection">
- <rdf:Description rdf:about="http://purl.obolibrary.org/obo/UBERON_0002995"/>
- <owl:Restriction>
- <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/BFO_0000050"/>
- <owl:someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/NCBITaxon_10090"/>
- </owl:Restriction>
- </owl:intersectionOf>
- </owl:Class>
- </owl:equivalentClass>
- <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">ABA:SNI</oboInOwl:id>
- <obo:IAO_0000589 rdf:datatype="http://www.w3.org/2001/XMLSchema#string">substantia nigra pars lateralis (ABA)</obo:IAO_0000589>
- </owl:Class>
-
-
-
- <!-- http://purl.obolibrary.org/obo/NCBITaxon_10090 -->
-
- <owl:Class rdf:about="http://purl.obolibrary.org/obo/NCBITaxon_10090"/>
-
-
-
- <!-- http://purl.obolibrary.org/obo/UBERON_0000955 -->
-
- <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000955"/>
-
-
-
- <!-- http://purl.obolibrary.org/obo/UBERON_0001062 -->
-
- <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0001062"/>
-
-
-
- <!-- http://purl.obolibrary.org/obo/UBERON_0002301 -->
-
- <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0002301"/>
-
-
-
- <!-- http://purl.obolibrary.org/obo/UBERON_0002995 -->
-
- <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0002995"/>
-
-
-
- <!-- http://purl.obolibrary.org/obo/UBERON_0005390 -->
-
- <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0005390"/>
-
-
-
- <!-- http://purl.obolibrary.org/obo/UBERON_0005391 -->
-
- <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0005391"/>
-
-
-
- <!-- http://purl.obolibrary.org/obo/UBERON_0005392 -->
-
- <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0005392"/>
-
-
-
- <!-- http://purl.obolibrary.org/obo/UBERON_0005393 -->
-
- <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0005393"/>
-
-
-
- <!-- http://purl.obolibrary.org/obo/UBERON_0005394 -->
-
- <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0005394"/>
-
-
-
- <!-- http://purl.obolibrary.org/obo/UBERON_0005395 -->
-
- <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0005395"/>
-</rdf:RDF>
-
-
-
-<!-- Generated by the OWL API (version 0.2.1-SNAPSHOT) http://owlapi.sourceforge.net -->
-
Copied: uberon/trunk/bridge/uberon-bridge-to-mba.obo (from rev 5236, uberon/trunk/bridge/uberon-bridge-to-aba.obo)
===================================================================
--- uberon/trunk/bridge/uberon-bridge-to-mba.obo (rev 0)
+++ uberon/trunk/bridge/uberon-bridge-to-mba.obo 2015-01-02 02:26:07 UTC (rev 5238)
@@ -0,0 +1,177 @@
+ontology: uberon/bridge/uberon-bridge-to-aba
+data-version: 2015-01-01
+property_value: seeAlso "http://purl.obolibrary.org/obo/uberon/references/reference_0000026" xsd:anyURI
+
+[Term]
+id: ABA:Brain !
+property_value: IAO:0000589 "brain (ABA)" xsd:string
+intersection_of: UBERON:0000955 ! brain
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: ABA:CTX1-6b !
+property_value: IAO:0000589 "layer of neocortex (ABA)" xsd:string
+intersection_of: UBERON:0002301 ! layer of neocortex
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: ABA:SNI !
+property_value: IAO:0000589 "substantia nigra pars lateralis (ABA)" xsd:string
+intersection_of: UBERON:0002995 ! substantia nigra pars lateralis
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: ABA:CTX1 !
+property_value: IAO:0000589 "cortical layer I (ABA)" xsd:string
+intersection_of: UBERON:0005390 ! cortical layer I
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: ABA:CTX2 !
+property_value: IAO:0000589 "cortical layer II (ABA)" xsd:string
+intersection_of: UBERON:0005391 ! cortical layer II
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: ABA:CTX3 !
+property_value: IAO:0000589 "cortical layer III (ABA)" xsd:string
+intersection_of: UBERON:0005392 ! cortical layer III
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: ABA:CTX4 !
+property_value: IAO:0000589 "cortical layer IV (ABA)" xsd:string
+intersection_of: UBERON:0005393 ! cortical layer IV
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: ABA:CTX5 !
+property_value: IAO:0000589 "cortical layer V (ABA)" xsd:string
+intersection_of: UBERON:0005394 ! cortical layer V
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: ABA:CTX6 !
+property_value: IAO:0000589 "cortical layer VI (ABA)" xsd:string
+intersection_of: UBERON:0005395 ! cortical layer VI
+intersection_of: part_of NCBITaxon:10090
+
+[Term]
+id: ABA:ENTITY
+name: ABA entity
+intersection_of: UBERON:0001062 ! anatomical entity
+intersection_of: part_of NCBITaxon:10090
+relationship: only_in_taxon NCBITaxon:10090
+
+[Typedef]
+id: part_of
+xref: BFO:0000050
+is_transitive: true
+
+[Typedef]
+id: only_in_taxon
+xref: RO:0002160
+
+[Typedef]
+id: http://purl.obolibrary.org/obo/aba#part_of
+equivalent_to: BFO:0000050
+
+[Typedef]
+id: http://purl.obolibrary.org/obo/aba#develops_from
+equivalent_to: RO:0002225
+
+[Typedef]
+id: foaf-depicted_by
+name: depicted_by
+is_metadata_tag: true
+xref: http://xmlns.com/foaf/0.1/depicted_by
+
+[Typedef]
+id: foaf-homepage
+name: homepage
+is_metadata_tag: true
+xref: http://xmlns.com/foaf/0.1/homepage
+
+[Typedef]
+id: dc-title
+name: title
+is_metadata_tag: true
+xref: http://purl.org/dc/elements/1.1/title
+
+[Typedef]
+id: dc-contributor
+name: contributor
+is_metadata_tag: true
+xref: http://purl.org/dc/elements/1.1/contributor
+
+[Typedef]
+id: dc-creator
+name: creator
+is_metadata_tag: true
+xref: http://purl.org/dc/elements/1.1/creator
+
+[Typedef]
+id: dc-publisher
+name: publisher
+is_metadata_tag: true
+xref: http://purl.org/dc/elements/1.1/publisher
+
+[Typedef]
+id: dc-description
+name: description
+is_metadata_tag: true
+xref: http://purl.org/dc/elements/1.1/description
+
+[Typedef]
+id: dc-source
+name: derived from resource
+is_metadata_tag: true
+xref: http://purl.org/dc/elements/1.1/source
+
+[Typedef]
+id: dcterms-isReferencedBy
+name: is referenced by
+is_metadata_tag: true
+xref: http://purl.org/dc/terms/isReferencedBy
+
+[Typedef]
+id: dcterms-references
+name: references
+is_metadata_tag: true
+xref: http://purl.org/dc/terms/references
+
+[Typedef]
+id: doap-GitRepository
+name: Git repository
+is_metadata_tag: true
+xref: http://usefulinc.com/ns/doap#GitRepository
+
+[Typedef]
+id: doap-SVNRepository
+name: SVN repository
+is_metadata_tag: true
+xref: http://usefulinc.com/ns/doap#SVNRepository
+
+[Typedef]
+id: doap-wiki
+name: wiki
+is_metadata_tag: true
+xref: http://usefulinc.com/ns/doap#wiki
+
+[Typedef]
+id: doap-bug-database
+name: bug database
+is_metadata_tag: true
+xref: http://usefulinc.com/ns/doap#bug-database
+
+[Typedef]
+id: seeAlso
+name: see also
+is_metadata_tag: true
+xref: http://www.w3.org/2000/01/rdf-schema#seeAlso
+
+[Typedef]
+id: example_of_usage
+name: example of usage
+is_metadata_tag: true
+xref: IAO:0000122
Copied: uberon/trunk/bridge/uberon-bridge-to-mba.owl (from rev 5236, uberon/trunk/bridge/uberon-bridge-to-aba.owl)
===================================================================
--- uberon/trunk/bridge/uberon-bridge-to-mba.owl (rev 0)
+++ uberon/trunk/bridge/uberon-bridge-to-mba.owl 2015-01-02 02:26:07 UTC (rev 5238)
@@ -0,0 +1,606 @@
+<?xml version="1.0"?>
+<rdf:RDF xmlns="http://purl.obolibrary.org/obo/uberon/bridge/uberon-bridge-to-aba.owl#"
+ xml:base="http://purl.obolibrary.org/obo/uberon/bridge/uberon-bridge-to-aba.owl"
+ xmlns:dc="http://purl.org/dc/elements/1.1/"
+ xmlns:obo="http://purl.obolibrary.org/obo/"
+ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#"
+ xmlns:foaf="http://xmlns.com/foaf/0.1/"
+ xmlns:terms="http://purl.org/dc/terms/"
+ xmlns:owl="http://www.w3.org/2002/07/owl#"
+ xmlns:xsd="http://www.w3.org/2001/XMLSchema#"
+ xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#"
+ xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"
+ xmlns:doap="http://usefulinc.com/ns/doap#">
+ <owl:Ontology rdf:about="http://purl.obolibrary.org/obo/uberon/bridge/uberon-bridge-to-aba.owl">
+ <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">http://purl.obolibrary.org/obo/uberon/references/reference_0000026</rdfs:seeAlso>
+ <owl:versionIRI rdf:resource="http://purl.obolibrary.org/obo/uberon/bridge/uberon-bridge-to-aba/2015-01-01/uberon/bridge/uberon-bridge-to-aba.owl"/>
+ </owl:Ontology>
+
+
+
+ <!--
+ ///////////////////////////////////////////////////////////////////////////////////////
+ //
+ // Annotation properties
+ //
+ ///////////////////////////////////////////////////////////////////////////////////////
+ -->
+
+
+
+
+ <!-- http://purl.obolibrary.org/obo/IAO_0000122 -->
+
+ <owl:AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000122">
+ <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">example of usage</rdfs:label>
+ <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">IAO:0000122</oboInOwl:hasDbXref>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">example_of_usage</oboInOwl:id>
+ <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">example_of_usage</oboInOwl:shorthand>
+ <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
+ </owl:AnnotationProperty>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/IAO_0000589 -->
+
+ <owl:AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000589"/>
+
+
+
+ <!-- http://purl.org/dc/elements/1.1/contributor -->
+
+ <owl:AnnotationProperty rdf:about="http://purl.org/dc/elements/1.1/contributor">
+ <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">contributor</rdfs:label>
+ <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dc-contributor</oboInOwl:shorthand>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dc-contributor</oboInOwl:id>
+ <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://purl.org/dc/elements/1.1/contributor</oboInOwl:hasDbXref>
+ <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
+ </owl:AnnotationProperty>
+
+
+
+ <!-- http://purl.org/dc/elements/1.1/creator -->
+
+ <owl:AnnotationProperty rdf:about="http://purl.org/dc/elements/1.1/creator">
+ <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">creator</rdfs:label>
+ <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dc-creator</oboInOwl:shorthand>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dc-creator</oboInOwl:id>
+ <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://purl.org/dc/elements/1.1/creator</oboInOwl:hasDbXref>
+ <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
+ </owl:AnnotationProperty>
+
+
+
+ <!-- http://purl.org/dc/elements/1.1/description -->
+
+ <owl:AnnotationProperty rdf:about="http://purl.org/dc/elements/1.1/description">
+ <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">description</rdfs:label>
+ <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dc-description</oboInOwl:shorthand>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dc-description</oboInOwl:id>
+ <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://purl.org/dc/elements/1.1/description</oboInOwl:hasDbXref>
+ <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
+ </owl:AnnotationProperty>
+
+
+
+ <!-- http://purl.org/dc/elements/1.1/publisher -->
+
+ <owl:AnnotationProperty rdf:about="http://purl.org/dc/elements/1.1/publisher">
+ <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">publisher</rdfs:label>
+ <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dc-publisher</oboInOwl:shorthand>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dc-publisher</oboInOwl:id>
+ <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://purl.org/dc/elements/1.1/publisher</oboInOwl:hasDbXref>
+ <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
+ </owl:AnnotationProperty>
+
+
+
+ <!-- http://purl.org/dc/elements/1.1/source -->
+
+ <owl:AnnotationProperty rdf:about="http://purl.org/dc/elements/1.1/source">
+ <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">derived from resource</rdfs:label>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dc-source</oboInOwl:id>
+ <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dc-source</oboInOwl:shorthand>
+ <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://purl.org/dc/elements/1.1/source</oboInOwl:hasDbXref>
+ <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
+ </owl:AnnotationProperty>
+
+
+
+ <!-- http://purl.org/dc/elements/1.1/title -->
+
+ <owl:AnnotationProperty rdf:about="http://purl.org/dc/elements/1.1/title">
+ <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">title</rdfs:label>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dc-title</oboInOwl:id>
+ <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dc-title</oboInOwl:shorthand>
+ <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://purl.org/dc/elements/1.1/title</oboInOwl:hasDbXref>
+ <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
+ </owl:AnnotationProperty>
+
+
+
+ <!-- http://purl.org/dc/terms/isReferencedBy -->
+
+ <owl:AnnotationProperty rdf:about="http://purl.org/dc/terms/isReferencedBy">
+ <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">is referenced by</rdfs:label>
+ <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dcterms-isReferencedBy</oboInOwl:shorthand>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dcterms-isReferencedBy</oboInOwl:id>
+ <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://purl.org/dc/terms/isReferencedBy</oboInOwl:hasDbXref>
+ <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
+ </owl:AnnotationProperty>
+
+
+
+ <!-- http://purl.org/dc/terms/references -->
+
+ <owl:AnnotationProperty rdf:about="http://purl.org/dc/terms/references">
+ <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">references</rdfs:label>
+ <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dcterms-references</oboInOwl:shorthand>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dcterms-references</oboInOwl:id>
+ <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://purl.org/dc/terms/references</oboInOwl:hasDbXref>
+ <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
+ </owl:AnnotationProperty>
+
+
+
+ <!-- http://usefulinc.com/ns/doap#GitRepository -->
+
+ <owl:AnnotationProperty rdf:about="http://usefulinc.com/ns/doap#GitRepository">
+ <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Git repository</rdfs:label>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">doap-GitRepository</oboInOwl:id>
+ <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">doap-GitRepository</oboInOwl:shorthand>
+ <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://usefulinc.com/ns/doap#GitRepository</oboInOwl:hasDbXref>
+ <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
+ </owl:AnnotationProperty>
+
+
+
+ <!-- http://usefulinc.com/ns/doap#SVNRepository -->
+
+ <owl:AnnotationProperty rdf:about="http://usefulinc.com/ns/doap#SVNRepository">
+ <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">SVN repository</rdfs:label>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">doap-SVNRepository</oboInOwl:id>
+ <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">doap-SVNRepository</oboInOwl:shorthand>
+ <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://usefulinc.com/ns/doap#SVNRepository</oboInOwl:hasDbXref>
+ <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
+ </owl:AnnotationProperty>
+
+
+
+ <!-- http://usefulinc.com/ns/doap#bug-database -->
+
+ <owl:AnnotationProperty rdf:about="http://usefulinc.com/ns/doap#bug-database">
+ <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">bug database</rdfs:label>
+ <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">doap-bug-database</oboInOwl:shorthand>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">doap-bug-database</oboInOwl:id>
+ <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://usefulinc.com/ns/doap#bug-database</oboInOwl:hasDbXref>
+ <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
+ </owl:AnnotationProperty>
+
+
+
+ <!-- http://usefulinc.com/ns/doap#wiki -->
+
+ <owl:AnnotationProperty rdf:about="http://usefulinc.com/ns/doap#wiki">
+ <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">wiki</rdfs:label>
+ <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">doap-wiki</oboInOwl:shorthand>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">doap-wiki</oboInOwl:id>
+ <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://usefulinc.com/ns/doap#wiki</oboInOwl:hasDbXref>
+ <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
+ </owl:AnnotationProperty>
+
+
+
+ <!-- http://www.geneontology.org/formats/oboInOwl#hasDbXref -->
+
+ <owl:AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasDbXref">
+ <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">database_cross_reference</rdfs:label>
+ </owl:AnnotationProperty>
+
+
+
+ <!-- http://www.geneontology.org/formats/oboInOwl#id -->
+
+ <owl:AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#id"/>
+
+
+
+ <!-- http://www.geneontology.org/formats/oboInOwl#is_metadata_tag -->
+
+ <owl:AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#is_metadata_tag"/>
+
+
+
+ <!-- http://www.geneontology.org/formats/oboInOwl#shorthand -->
+
+ <owl:AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#shorthand">
+ <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">shorthand</rdfs:label>
+ </owl:AnnotationProperty>
+
+
+
+ <!-- http://www.w3.org/2000/01/rdf-schema#label -->
+
+ <owl:AnnotationProperty rdf:about="http://www.w3.org/2000/01/rdf-schema#label"/>
+
+
+
+ <!-- http://www.w3.org/2000/01/rdf-schema#seeAlso -->
+
+ <owl:AnnotationProperty rdf:about="http://www.w3.org/2000/01/rdf-schema#seeAlso">
+ <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">see also</rdfs:label>
+ <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://www.w3.org/2000/01/rdf-schema#seeAlso</oboInOwl:hasDbXref>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">seeAlso</oboInOwl:id>
+ <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">seeAlso</oboInOwl:shorthand>
+ <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
+ </owl:AnnotationProperty>
+
+
+
+ <!-- http://xmlns.com/foaf/0.1/depicted_by -->
+
+ <owl:AnnotationProperty rdf:about="http://xmlns.com/foaf/0.1/depicted_by">
+ <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">depicted_by</rdfs:label>
+ <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">foaf-depicted_by</oboInOwl:shorthand>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">foaf-depicted_by</oboInOwl:id>
+ <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://xmlns.com/foaf/0.1/depicted_by</oboInOwl:hasDbXref>
+ <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
+ </owl:AnnotationProperty>
+
+
+
+ <!-- http://xmlns.com/foaf/0.1/homepage -->
+
+ <owl:AnnotationProperty rdf:about="http://xmlns.com/foaf/0.1/homepage">
+ <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">homepage</rdfs:label>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">foaf-homepage</oboInOwl:id>
+ <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">foaf-homepage</oboInOwl:shorthand>
+ <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://xmlns.com/foaf/0.1/homepage</oboInOwl:hasDbXref>
+ <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
+ </owl:AnnotationProperty>
+
+
+
+ <!--
+ ///////////////////////////////////////////////////////////////////////////////////////
+ //
+ // Object Properties
+ //
+ ///////////////////////////////////////////////////////////////////////////////////////
+ -->
+
+
+
+
+ <!-- http://purl.obolibrary.org/obo/BFO_0000050 -->
+
+ <owl:ObjectProperty rdf:about="http://purl.obolibrary.org/obo/BFO_0000050">
+ <rdf:type rdf:resource="http://www.w3.org/2002/07/owl#TransitiveProperty"/>
+ <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">BFO:0000050</oboInOwl:hasDbXref>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">part_of</oboInOwl:id>
+ <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">part_of</oboInOwl:shorthand>
+ <owl:equivalentProperty rdf:resource="http://purl.obolibrary.org/obo/aba#part_of"/>
+ </owl:ObjectProperty>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/RO_0002160 -->
+
+ <owl:ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0002160">
+ <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">RO:0002160</oboInOwl:hasDbXref>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">only_in_taxon</oboInOwl:id>
+ <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">only_in_taxon</oboInOwl:shorthand>
+ </owl:ObjectProperty>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/RO_0002225 -->
+
+ <owl:ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0002225">
+ <owl:equivalentProperty rdf:resource="http://purl.obolibrary.org/obo/aba#develops_from"/>
+ </owl:ObjectProperty>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/aba#develops_from -->
+
+ <owl:ObjectProperty rdf:about="http://purl.obolibrary.org/obo/aba#develops_from">
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://purl.obolibrary.org/obo/aba#develops_from</oboInOwl:id>
+ </owl:ObjectProperty>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/aba#part_of -->
+
+ <owl:ObjectProperty rdf:about="http://purl.obolibrary.org/obo/aba#part_of">
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://purl.obolibrary.org/obo/aba#part_of</oboInOwl:id>
+ </owl:ObjectProperty>
+
+
+
+ <!--
+ ///////////////////////////////////////////////////////////////////////////////////////
+ //
+ // Classes
+ //
+ ///////////////////////////////////////////////////////////////////////////////////////
+ -->
+
+
+
+
+ <!-- http://purl.obolibrary.org/obo/ABA_Brain -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/ABA_Brain">
+ <owl:equivalentClass>
+ <owl:Class>
+ <owl:intersectionOf rdf:parseType="Collection">
+ <rdf:Description rdf:about="http://purl.obolibrary.org/obo/UBERON_0000955"/>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/BFO_0000050"/>
+ <owl:someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/NCBITaxon_10090"/>
+ </owl:Restriction>
+ </owl:intersectionOf>
+ </owl:Class>
+ </owl:equivalentClass>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">ABA:Brain</oboInOwl:id>
+ <obo:IAO_0000589 rdf:datatype="http://www.w3.org/2001/XMLSchema#string">brain (ABA)</obo:IAO_0000589>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/ABA_CTX1 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/ABA_CTX1">
+ <owl:equivalentClass>
+ <owl:Class>
+ <owl:intersectionOf rdf:parseType="Collection">
+ <rdf:Description rdf:about="http://purl.obolibrary.org/obo/UBERON_0005390"/>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/BFO_0000050"/>
+ <owl:someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/NCBITaxon_10090"/>
+ </owl:Restriction>
+ </owl:intersectionOf>
+ </owl:Class>
+ </owl:equivalentClass>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">ABA:CTX1</oboInOwl:id>
+ <obo:IAO_0000589 rdf:datatype="http://www.w3.org/2001/XMLSchema#string">cortical layer I (ABA)</obo:IAO_0000589>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/ABA_CTX1-6b -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/ABA_CTX1-6b">
+ <owl:equivalentClass>
+ <owl:Class>
+ <owl:intersectionOf rdf:parseType="Collection">
+ <rdf:Description rdf:about="http://purl.obolibrary.org/obo/UBERON_0002301"/>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/BFO_0000050"/>
+ <owl:someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/NCBITaxon_10090"/>
+ </owl:Restriction>
+ </owl:intersectionOf>
+ </owl:Class>
+ </owl:equivalentClass>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">ABA:CTX1-6b</oboInOwl:id>
+ <obo:IAO_0000589 rdf:datatype="http://www.w3.org/2001/XMLSchema#string">layer of neocortex (ABA)</obo:IAO_0000589>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/ABA_CTX2 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/A...
[truncated message content] |
|
From: <cmu...@us...> - 2015-01-02 01:10:22
|
Revision: 5237
http://sourceforge.net/p/obo/svn/5237
Author: cmungall
Date: 2015-01-02 01:10:21 +0000 (Fri, 02 Jan 2015)
Log Message:
-----------
new-release
Added Paths:
-----------
uberon/releases/2015-01-01/
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
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