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From: <cmu...@us...> - 2014-12-10 23:59:18
|
Revision: 5235
http://sourceforge.net/p/obo/svn/5235
Author: cmungall
Date: 2014-12-10 23:59:16 +0000 (Wed, 10 Dec 2014)
Log Message:
-----------
new-release
Added Paths:
-----------
uberon/releases/2014-12-09/
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <koe...@us...> - 2014-12-02 10:24:24
|
Revision: 5233
http://sourceforge.net/p/obo/svn/5233
Author: koehlers
Date: 2014-12-02 10:24:21 +0000 (Tue, 02 Dec 2014)
Log Message:
-----------
update in orphanet parsing
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/misc/jarFiles/generateAnnotationFile.jar
Modified: phenotype-commons/annotations/OMIM/by-disease/misc/jarFiles/generateAnnotationFile.jar
===================================================================
(Binary files differ)
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <koe...@us...> - 2014-12-02 09:57:26
|
Revision: 5232
http://sourceforge.net/p/obo/svn/5232
Author: koehlers
Date: 2014-12-02 09:57:18 +0000 (Tue, 02 Dec 2014)
Log Message:
-----------
update in orphanet parsing
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/misc/jarFiles/generateAnnotationFile.jar
Modified: phenotype-commons/annotations/OMIM/by-disease/misc/jarFiles/generateAnnotationFile.jar
===================================================================
(Binary files differ)
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <koe...@us...> - 2014-11-27 17:14:49
|
Revision: 5231
http://sourceforge.net/p/obo/svn/5231
Author: koehlers
Date: 2014-11-27 17:14:45 +0000 (Thu, 27 Nov 2014)
Log Message:
-----------
more negative annotations
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-109160.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-147791.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-164680.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-202200.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-206920.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-208900.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-211120.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-211400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-238800.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-251230.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-269840.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-275350.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-305400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-307200.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-600171.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600908.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601238.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601553.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607398.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608484.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609197.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611426.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612782.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612783.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613021.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613493.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613495.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613496.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613839.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615067.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615214.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615542.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615607.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615615.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615617.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615841.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615842.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615966.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-109160.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-109160.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-109160.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -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:109160 AZOTEMIA, FAMILIAL HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:109160 HPO 17.02.2009
OMIM:109160 AZOTEMIA, FAMILIAL HP:0002157 Azotemia IEA IEA OMIM:109160 HPO 17.02.2009
+OMIM:109160 %109160 AZOTEMIA, FAMILIAL HP:0012211 Abnormal renal physiology IEA IEA NOT NOT OMIM-CS:GU > NORMAL RENAL FUNCTION OMIM:109160 HPO:skoehler 27.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-147791.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-147791.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-147791.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -47,3 +47,5 @@
OMIM:147791 JACOBSEN SYNDROME HP:0005469 Flat occiput IEA IEA OMIM:147791 HPO 17.02.2009
OMIM:147791 JACOBSEN SYNDROME HP:0008947 Infantile muscular hypotonia IEA IEA OMIM:147791 HPO:skoehler 18.06.2010
OMIM:147791 JACOBSEN SYNDROME HP:0010806 U-Shaped upper lip vermilion IEA IEA OMIM:147791 HPO 17.02.2009
+OMIM:147791 #147791 JACOBSEN SYNDROME; JBS;;CHROMOSOME 11q DELETION SYNDROME;;PARTIAL 11q MONOSOMY SYNDROME HP:0000499 Abnormality of the eyelashes IEA IEA OMIM-CS:HEAD AND NECK_EYES > ABNORMAL EYELASHES OMIM:147791 HPO:skoehler 27.11.2014
+OMIM:147791 #147791 JACOBSEN SYNDROME; JBS;;CHROMOSOME 11q DELETION SYNDROME;;PARTIAL 11q MONOSOMY SYNDROME HP:0000499 Abnormality of the eyelashes IEA IEA OMIM-CS:SKIN, NAILS, HAIR_HAIR > ABNORMAL EYELASHES OMIM:147791 HPO:skoehler 27.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-164680.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-164680.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-164680.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -3,3 +3,4 @@
OMIM:164680 ONYCHOGRYPOSIS, PEDAL, WITH KERATOSIS PLANTARIS AND COARSE HAIR HP:0007556 Plantar hyperkeratosis IEA IEA OMIM:164680 HPO 17.02.2009
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
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-202200.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-202200.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-202200.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -10,3 +10,5 @@
OMIM:202200 GLUCOCORTICOID DEFICIENCY 1 HP:0003154 Elevated plasma ACTH IEA IEA OMIM:202200 HPO 17.02.2009
OMIM:202200 GLUCOCORTICOID DEFICIENCY 1 HP:0005616 Accelerated skeletal maturation IEA IEA OMIM:202200 HPO 17.02.2009
OMIM:202200 GLUCOCORTICOID DEFICIENCY 1 HP:0008163 Plasma cortisol low IEA IEA OMIM:202200 HPO 17.02.2009
+OMIM:202200 #202200 GLUCOCORTICOID DEFICIENCY 1; GCCD1;;FAMILIAL GLUCOCORTICOID DEFICIENCY 1; FGD1;;ADRENAL UNRESPONSIVENESS TO ACTH;;ACTH RESISTANCE HP:0040085 Abnormal circulating aldosterone IEA IEA NOT NOT OMIM-CS:LABORATORY ABNORMALITIES > NORMAL PLASMA ALDOSTERONE OMIM:202200 HPO:skoehler 27.11.2014
+OMIM:202200 #202200 GLUCOCORTICOID DEFICIENCY 1; GCCD1;;FAMILIAL GLUCOCORTICOID DEFICIENCY 1; FGD1;;ADRENAL UNRESPONSIVENESS TO ACTH;;ACTH RESISTANCE HP:0040084 Abnormal circulating renin IEA IEA NOT NOT OMIM-CS:LABORATORY ABNORMALITIES > NORMAL PLASMA RENIN OMIM:202200 HPO:skoehler 27.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-206920.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-206920.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-206920.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -35,3 +35,4 @@
OMIM:206920 #206920 MICROPHTHALMIA WITH LIMB ANOMALIES;;WAARDENBURG ANOPHTHALMIA SYNDROME;;ANOPHTHALMIA-SYNDACTYLY;;OPHTHALMOACROMELIC SYNDROME; OAS HP:0008897 Postnatal growth retardation IEA IEA OMIM-CS:GROWTH_OTHER > POSTNATAL GROWTH RETARDATION OMIM:206920 HPO:skoehler 17.10.2012
OMIM:206920 #206920 MICROPHTHALMIA WITH LIMB ANOMALIES;;WAARDENBURG ANOPHTHALMIA SYNDROME;;ANOPHTHALMIA-SYNDACTYLY;;OPHTHALMOACROMELIC SYNDROME; OAS HP:0011220 Prominent forehead IEA IEA OMIM-CS:HEAD AND NECK_FACE > PROMINENT FOREHEAD OMIM:206920 HPO:skoehler 17.10.2012
OMIM:206920 #206920 MICROPHTHALMIA WITH LIMB ANOMALIES;;WAARDENBURG ANOPHTHALMIA SYNDROME;;ANOPHTHALMIA-SYNDACTYLY;;OPHTHALMOACROMELIC SYNDROME; OAS HP:0012745 Short palpebral fissure IEA IEA OMIM-CS:HEAD AND NECK_EYES > SHORT PALPEBRAL FISSURE OMIM:206920 HPO:skoehler 24.03.2014
+OMIM:206920 #206920 MICROPHTHALMIA WITH LIMB ANOMALIES;;WAARDENBURG ANOPHTHALMIA SYNDROME;;ANOPHTHALMIA-SYNDACTYLY;;OPHTHALMOACROMELIC SYNDROME; OAS HP:0000499 Abnormality of the eyelashes IEA IEA NOT NOT OMIM-CS:SKIN, NAILS, HAIR_HAIR > NORMAL EYELASHES OMIM:206920 HPO:skoehler 27.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-208900.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-208900.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-208900.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -35,3 +35,4 @@
OMIM:208900 #208900 ATAXIA-TELANGIECTASIA; AT;;AT1;;LOUIS-BAR SYNDROMEAT, COMPLEMENTATION GROUP A, INCLUDED; ATA, INCLUDED;;AT, COMPLEMENTATION GROUP C, INCLUDED; ATC, INCLUDED;;AT, COMPLEMENTATION GROUP D, INCLUDED; ATD, INCLUDED;;AT, COMPLEMENTATION GROUP E, INCLUDED; ATE, INCLUDED;;ATAXIA-TELANGIECTASIA VARIANT, INCLUDED HP:0001337 Tremor IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > TREMOR OMIM:208900 HPO:skoehler 25.11.2012
OMIM:208900 #208900 ATAXIA-TELANGIECTASIA; AT;;AT1;;LOUIS-BAR SYNDROMEAT, COMPLEMENTATION GROUP A, INCLUDED; ATA, INCLUDED;;AT, COMPLEMENTATION GROUP C, INCLUDED; ATC, INCLUDED;;AT, COMPLEMENTATION GROUP D, INCLUDED; ATD, INCLUDED;;AT, COMPLEMENTATION GROUP E, INCLUDED; ATE, INCLUDED;;ATAXIA-TELANGIECTASIA VARIANT, INCLUDED HP:0012189 Hodgkin lymphoma IEA IEA OMIM-CS:NEOPLASIA > HODGKIN LYMPHOMA OMIM:208900 HPO:skoehler 28.01.2014
OMIM:208900 #208900 ATAXIA-TELANGIECTASIA; AT;;AT1;;LOUIS-BAR SYNDROMEAT, COMPLEMENTATION GROUP A, INCLUDED; ATA, INCLUDED;;AT, COMPLEMENTATION GROUP C, INCLUDED; ATC, INCLUDED;;AT, COMPLEMENTATION GROUP D, INCLUDED; ATD, INCLUDED;;AT, COMPLEMENTATION GROUP E, INCLUDED; ATE, INCLUDED;;ATAXIA-TELANGIECTASIA VARIANT, INCLUDED HP:0012539 Non-Hodgkin lymphoma IEA IEA OMIM-CS:NEOPLASIA > NON-HODGKIN LYMPHOMA OMIM:208900 HPO:skoehler 28.01.2014
+OMIM:208900 #208900 ATAXIA-TELANGIECTASIA; AT;;AT1;;LOUIS-BAR SYNDROMEAT, COMPLEMENTATION GROUP A, INCLUDED; ATA, INCLUDED;;AT, COMPLEMENTATION GROUP C, INCLUDED; ATC, INCLUDED;;AT, COMPLEMENTATION GROUP D, INCLUDED; ATD, INCLUDED;;AT, COMPLEMENTATION GROUP E, INCLUDED; ATE, INCLUDED;;ATAXIA-TELANGIECTASIA VARIANT, INCLUDED HP:0010975 Abnormality of B cell number IEA IEA NOT NOT OMIM-CS:IMMUNOLOGY > NORMAL NUMBERS OF B CELLS OMIM:208900 HPO:skoehler 27.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-211120.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-211120.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-211120.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -6,3 +6,4 @@
OMIM:211120 211120 BONE DYSPLASIA, LETHAL, HOLMGREN TYPE HP:0000774 Narrow chest IEA IEA OMIM-CS:CHEST_EXTERNAL FEATURES > NARROW CHEST OMIM:211120 HPO:skoehler 25.02.2014
OMIM:211120 211120 BONE DYSPLASIA, LETHAL, HOLMGREN TYPE HP:0000773 Short ribs IEA IEA OMIM-CS:CHEST_RIBS, STERNUM, CLAVICLES, AND SCAPULAE > SHORT RIBS OMIM:211120 HPO:skoehler 25.02.2014
OMIM:211120 211120 BONE DYSPLASIA, LETHAL, HOLMGREN TYPE HP:0002093 Respiratory insufficiency IEA IEA OMIM-CS:RESPIRATORY > RESPIRATORY INSUFFICIENCY OMIM:211120 HPO:skoehler 25.02.2014
+OMIM:211120 211120 BONE DYSPLASIA, LETHAL, HOLMGREN TYPE HP:0000925 Abnormality of the vertebral column IEA IEA NOT NOT OMIM-CS:SKELETAL_SPINE > NORMAL SPINE OMIM:211120 HPO:skoehler 27.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-211400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-211400.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-211400.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -3,3 +3,4 @@
OMIM:211400 BRONCHIECTASIS HP:0002110 Bronchiectasis TAS TAS OMIM:211400 HPO:skoehler Jun 18, 2010
OMIM:211400 BRONCHIECTASIS HP:0004469 Chronic bronchitis TAS TAS OMIM:211400 HPO:skoehler Jun 18, 2010
OMIM:211400 BRONCHIECTASIS HP:0012236 Elevated sweat chloride TAS TAS Occasional OMIM:211400 HPO:skoehler Mar 31, 2013
+OMIM:211400 #211400 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1; BESC1;;CYSTIC FIBROSIS-LIKE SYNDROME HP:0012092 Abnormality of exocrine pancreas physiology IEA IEA NOT NOT OMIM-CS:LABORATORY ABNORMALITIES > NORMAL EXOCRINE PANCREATIC FUNCTION OMIM:211400 HPO:skoehler 27.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-238800.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-238800.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-238800.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -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:238800 HYPERMETABOLISM DUE TO DEFECT IN MITOCHONDRIA HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:238800 HPO 17.02.2009
+OMIM:238800 238800 HYPERMETABOLISM DUE TO DEFECT IN MITOCHONDRIA HP:0002926 Abnormality of thyroid physiology IEA IEA NOT NOT OMIM-CS:ENDOCRINE > NORMAL THYROID FUNCTION OMIM:238800 HPO:skoehler 27.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-251230.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-251230.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-251230.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -4,3 +4,4 @@
OMIM:251230 MICROCEPHALY-MICROMELIA SYNDROME HP:0001511 Intrauterine growth retardation IEA IEA OMIM:251230 HPO 17.02.2009
OMIM:251230 MICROCEPHALY-MICROMELIA SYNDROME HP:0002983 Micromelia IEA IEA OMIM:251230 HPO 17.02.2009
OMIM:251230 MICROCEPHALY-MICROMELIA SYNDROME HP:0009821 Hypoplasia involving forearm bones IEA IEA OMIM:251230 HPO 17.02.2009
+OMIM:251230 %251230 MICROCEPHALY-MICROMELIA SYNDROME HP:0001155 Abnormality of the hand IEA IEA OMIM-CS:LIMBS > ABNORMAL HANDS OMIM:251230 HPO:skoehler 27.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-269840.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-269840.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-269840.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -8,3 +8,4 @@
OMIM:269840 SEVERE COMBINED IMMUNODEFICIENCY, ATYPICAL HP:0003139 Panhypogammaglobulinemia IEA IEA OMIM:269840 HPO Feb 17, 2009
OMIM:269840 SEVERE COMBINED IMMUNODEFICIENCY, ATYPICAL HP:0000976 Eczematoid dermatitis TAS TAS OMIM:269840 HPO:skoehler Aug 12, 2013
OMIM:269840 SEVERE COMBINED IMMUNODEFICIENCY, ATYPICAL HP:0005401 Recurrent candida infections TAS TAS OMIM:269840 HPO:skoehler Aug 12, 2013
+OMIM:269840 #269840 SELECTIVE T-CELL DEFECT; STCD HP:0040089 Abnormality of natural killer cell number IEA IEA NOT NOT OMIM-CS:IMMUNOLOGY > NORMAL NUMBER OF NATURAL KILLER CELLS OMIM:269840 HPO:skoehler 27.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-275350.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-275350.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-275350.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -19,3 +19,4 @@
MIM:275350 TRANSCOBALAMIN II DEFICIENCY HP:0002850 Decreased IgM IEA IEA 17.02.2009
MIM:275350 TRANSCOBALAMIN II DEFICIENCY HP:0004315 Decreased IgG level IEA IEA 17.02.2009
OMIM:275350 #275350 TRANSCOBALAMIN II DEFICIENCY;;TC II DEFICIENCY;;TCN2 DEFICIENCY HP:0012120 Methylmalonic aciduria IEA IEA OMIM-CS:LABORATORY ABNORMALITIES > METHYLMALONIC ACIDURIA OMIM:275350 HPO:skoehler 17.10.2012
+OMIM:275350 #275350 TRANSCOBALAMIN II DEFICIENCY;;TC II DEFICIENCY;;TCN2 DEFICIENCY HP:0040087 Abnormality of folate in blood IEA IEA NOT NOT OMIM-CS:LABORATORY ABNORMALITIES > NORMAL SERUM FOLATE OMIM:275350 HPO:skoehler 27.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-305400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-305400.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-305400.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -42,3 +42,4 @@
OMIM:305400 FACIOGENITAL DYSPLASIA HP:0001769 Broad foot TAS TAS OMIM:305400 HPO:probinson Apr 8, 2013
OMIM:305400 #305400 AARSKOG-SCOTT SYNDROME; AAS;;FACIOGENITAL DYSPLASIA; FGDY;;FACIODIGITOGENITAL SYNDROME;;AARSKOG SYNDROME, X-LINKEDFACIOGENITAL DYSPLASIA WITH ATTENTION DEFICIT-HYPERACTIVITY DISORDER,INCLUDED;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 16, INCLUDED; MRXS16, INCLUDED HP:0012774 Increased upper to lower segment ratio IEA IEA OMIM-CS:GROWTH_OTHER > INCREASED UPPER TO LOWER SEGMENT RATIO OMIM:305400 HPO:skoehler 13.04.2014
OMIM:305400 #305400 AARSKOG-SCOTT SYNDROME; AAS;;FACIOGENITAL DYSPLASIA; FGDY;;FACIODIGITOGENITAL SYNDROME;;AARSKOG SYNDROME, X-LINKEDFACIOGENITAL DYSPLASIA WITH ATTENTION DEFICIT-HYPERACTIVITY DISORDER,INCLUDED;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 16, INCLUDED; MRXS16, INCLUDED HP:0030084 Clinodactyly IEA IEA OMIM-CS:SKELETAL_HANDS > CLINODACTYLY OMIM:305400 HPO:skoehler 21.09.2014
+OMIM:305400 #305400 AARSKOG-SCOTT SYNDROME; AAS;;FACIOGENITAL DYSPLASIA; FGDY;;FACIODIGITOGENITAL SYNDROME;;AARSKOG SYNDROME, X-LINKEDFACIOGENITAL DYSPLASIA WITH ATTENTION DEFICIT-HYPERACTIVITY DISORDER,INCLUDED;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 16, INCLUDED; MRXS16, INCLUDED HP:0000144 Decreased fertility IEA IEA NOT NOT OMIM-CS:MISCELLANEOUS > NORMAL FERTILITY OMIM:305400 HPO:skoehler 27.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-307200.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-307200.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-307200.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -21,3 +21,4 @@
OMIM:307200 HYPOGAMMAGLOBULINEMIA AND ISOLATED GROWTH HORMONE DEFICIENCY, X-LINKED HP:0004322 Short stature IEA IEA OMIM:307200 HPO Feb 17, 2009
OMIM:307200 HYPOGAMMAGLOBULINEMIA AND ISOLATED GROWTH HORMONE DEFICIENCY, X-LINKED HP:0002718 Recurrent bacterial infections TAS TAS OMIM:307200 HPO:probinson Jul 19, 2012
OMIM:307200 HYPOGAMMAGLOBULINEMIA AND ISOLATED GROWTH HORMONE DEFICIENCY, X-LINKED HP:0002743 Recurrent enteroviral infections TAS TAS OMIM:307200 HPO:probinson Jul 19, 2012
+OMIM:307200 #307200 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III; IGHD3;;IGHD III;;GROWTH HORMONE DEFICIENCY WITH HYPOGAMMAGLOBULINEMIA;;HYPOGAMMAGLOBULINEMIA AND ISOLATED GROWTH HORMONE DEFICIENCY, X-LINKED;;AGAMMAGLOBULINEMIA AND ISOLATED GROWTH HORMONE DEFICIENCY, X-LINKED;;FLEISHER SYNDROME HP:0011839 Abnormality of T cell number IEA IEA NOT NOT OMIM-CS:IMMUNOLOGY > NORMAL NUMBER OF T CELLS OMIM:307200 HPO:skoehler 27.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-308240.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-308240.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-308240.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -16,3 +16,4 @@
OMIM:308240 #308240 LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1; XLP1;;XLP;;LYMPHOPROLIFERATIVE DISEASE, X-LINKED; XLPD;;LYP;;DUNCAN DISEASE;;EPSTEIN-BARR VIRUS INFECTION, FAMILIAL FATAL;;EBV INFECTION, SEVERE, SUSCEPTIBILITY TO; EBVS;;INFECTIOUS MONONUCLEOSIS, SEVERE, SUSCEPTIBILITY TO;;IMMUNODEFICIENCY, X-LINKED PROGRESSIVE COMBINED VARIABLE;;IMMUNODEFICIENCY 5; IMD5;;PURTILO SYNDROME HP:0001903 Anemia IEA IEA OMIM-CS:HEMATOLOGY > ANEMIA OMIM:308240 HPO:skoehler Oct 17, 2012
OMIM:308240 #308240 LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1; XLP1;;XLP;;LYMPHOPROLIFERATIVE DISEASE, X-LINKED; XLPD;;LYP;;DUNCAN DISEASE;;EPSTEIN-BARR VIRUS INFECTION, FAMILIAL FATAL;;EBV INFECTION, SEVERE, SUSCEPTIBILITY TO; EBVS;;INFECTIOUS MONONUCLEOSIS, SEVERE, SUSCEPTIBILITY TO;;IMMUNODEFICIENCY, X-LINKED PROGRESSIVE COMBINED VARIABLE;;IMMUNODEFICIENCY 5; IMD5;;PURTILO SYNDROME HP:0001873 Thrombocytopenia IEA IEA OMIM-CS:HEMATOLOGY > THROMBOCYTOPENIA OMIM:308240 HPO:skoehler Oct 17, 2012
OMIM:308240 LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 HP:0012178 Reduced natural killer cell activity TAS TAS OMIM:308240 HPO:probinson Feb 24, 2013
+OMIM:308240 #308240 LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1; XLP1;;XLP;;LYMPHOPROLIFERATIVE DISEASE, X-LINKED; XLPD;;LYP;;DUNCAN DISEASE;;EPSTEIN-BARR VIRUS INFECTION, FAMILIAL FATAL;;EBV INFECTION, SEVERE, SUSCEPTIBILITY TO; EBVS;;INFECTIOUS MONONUCLEOSIS, SEVERE, SUSCEPTIBILITY TO;;IMMUNODEFICIENCY, X-LINKED PROGRESSIVE COMBINED VARIABLE;;IMMUNODEFICIENCY 5; IMD5;;PURTILO SYNDROME HP:0011839 Abnormality of T cell number IEA IEA NOT NOT OMIM-CS:IMMUNOLOGY > NORMAL NUMBER OF T CELLS OMIM:308240 HPO:skoehler 27.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-312863.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-312863.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-312863.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -8,3 +8,4 @@
OMIM:312863 COMBINED IMMUNODEFICIENCY, X-LINKED HP:0005387 Combined immunodeficiency TAS TAS OMIM:312863 HPO:probinson 17.02.2009
OMIM:312863 COMBINED IMMUNODEFICIENCY, X-LINKED HP:0005407 Decreased number of CD4+ T cells IEA IEA OMIM:312863 HPO 17.02.2009
OMIM:312863 COMBINED IMMUNODEFICIENCY, X-LINKED HP:0005415 Decreased number of CD8+ T cells IEA IEA OMIM:312863 HPO 17.02.2009
+OMIM:312863 #312863 COMBINED IMMUNODEFICIENCY, X-LINKED; CIDX;;XCID;;IMMUNODEFICIENCY 6; IMD6 HP:0040089 Abnormality of natural killer cell number IEA IEA NOT NOT OMIM-CS:IMMUNOLOGY > NORMAL NUMBER OF NATURAL KILLER CELLS OMIM:312863 HPO:skoehler 27.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600171.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600171.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600171.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -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:600171 GONADAL AGENESIS HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:600171 HPO 17.02.2009
OMIM:600171 GONADAL AGENESIS HP:0000119 Abnormality of the genitourinary system IEA IEA OMIM:600171 HPO 17.02.2009
+OMIM:600171 600171 GONADAL AGENESIS HP:0000055 Abnormality of female external genitalia IEA IEA NOT NOT OMIM-CS:GU > NORMAL FEMALE EXTERNAL GENITALIA OMIM:600171 HPO:skoehler 27.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600908.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600908.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600908.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -15,3 +15,4 @@
OMIM:600908 AGONADISM, XY, WITH MENTAL RETARDATION, SHORT STATURE, RETARDED BONE AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS HP:0008633 Absent gonadal tissue IEA IEA OMIM:600908 HPO 17.02.2009
OMIM:600908 AGONADISM, XY, WITH MENTAL RETARDATION, SHORT STATURE, RETARDED BONE AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS HP:0001770 Toe syndactyly TAS TAS OMIM:600908 HPO:probinson 08.06.2012
OMIM:600908 AGONADISM, XY, WITH MENTAL RETARDATION, SHORT STATURE, RETARDED BONE AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS HP:0001863 Toe clinodactyly TAS TAS OMIM:600908 HPO:probinson 08.06.2012
+OMIM:600908 600908 AGONADISM, 46,XY, WITH MENTAL RETARDATION, SHORT STATURE, RETARDEDBONE AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS HP:0000055 Abnormality of female external genitalia IEA IEA NOT NOT OMIM-CS:GU > NORMAL FEMALE EXTERNAL GENITALIA OMIM:600908 HPO:skoehler 27.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601238.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601238.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601238.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -7,3 +7,4 @@
OMIM:601238 CEREBELLAR ATAXIA, CAYMAN TYPE HP:0002066 Gait ataxia IEA IEA OMIM:601238 HPO:skoehler 20.06.2010
OMIM:601238 CEREBELLAR ATAXIA, CAYMAN TYPE HP:0002080 Intention tremor IEA IEA OMIM:601238 HPO 17.02.2009
OMIM:601238 CEREBELLAR ATAXIA, CAYMAN TYPE HP:0002136 Broad-based gait TAS TAS OMIM:601238 HPO:probinson 17.02.2009
+OMIM:601238 #601238 CEREBELLAR ATAXIA, CAYMAN TYPE; ATCAY HP:0000479 Abnormality of the retina IEA IEA NOT NOT OMIM-CS:EYES > NORMAL RETINA OMIM:601238 HPO:skoehler 27.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601553.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601553.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601553.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -6,3 +6,4 @@
OMIM:601553 HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY HP:0001597 Abnormality of the nail IEA IEA OMIM:601553 HPO 17.02.2009
OMIM:601553 HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY HP:0003777 Pili torti IEA IEA OMIM:601553 HPO 17.02.2009
OMIM:601553 HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY HP:0007754 Macular dystrophy IEA IEA OMIM:601553 HPO 17.02.2009
+OMIM:601553 #601553 HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY; HJMD;;HYPOTRICHOSIS WITH CONE-ROD DYSTROPHY HP:0001231 Abnormality of the fingernails IEA IEA NOT NOT OMIM-CS:SKIN, NAILS, HAIR_NAILS > NORMAL FINGERNAILS OMIM:601553 HPO:skoehler 27.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607398.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607398.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607398.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -4,3 +4,5 @@
OMIM:607398 GLUCOCORTICOID DEFICIENCY 2 HP:0001988 Recurrent hypoglycemia IEA IEA OMIM:607398 HPO 17.02.2009
OMIM:607398 GLUCOCORTICOID DEFICIENCY 2 HP:0003154 Elevated plasma ACTH IEA IEA OMIM:607398 HPO 17.02.2009
OMIM:607398 GLUCOCORTICOID DEFICIENCY 2 HP:0008163 Plasma cortisol low IEA IEA OMIM:607398 HPO 17.02.2009
+OMIM:607398 #607398 GLUCOCORTICOID DEFICIENCY 2; GCCD2;;FAMILIAL GLUCOCORTICOID DEFICIENCY 2; FGD2 HP:0040085 Abnormal circulating aldosterone IEA IEA NOT NOT OMIM-CS:LABORATORY ABNORMALITIES > NORMAL PLASMA ALDOSTERONE OMIM:607398 HPO:skoehler 27.11.2014
+OMIM:607398 #607398 GLUCOCORTICOID DEFICIENCY 2; GCCD2;;FAMILIAL GLUCOCORTICOID DEFICIENCY 2; FGD2 HP:0040084 Abnormal circulating renin IEA IEA NOT NOT OMIM-CS:LABORATORY ABNORMALITIES > NORMAL PLASMA RENIN OMIM:607398 HPO:skoehler 27.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608484.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608484.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608484.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -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:608484 608484 CONGENITAL CORNEAL OPACITIES, CORNEA GUTTATA, AND CORECTOPIA;;CORNEAL OPACITIES, CONGENITAL, WITH CORNEA GUTTATA AND CORECTOPIA HP:0009918 Ectopia pupillae IEA IEA OMIM-CS:HEAD AND NECK_EYES > CORECTOPIA OMIM:608484 HPO:skoehler 17.10.2012
OMIM:608484 608484 CONGENITAL CORNEAL OPACITIES, CORNEA GUTTATA, AND CORECTOPIA;;CORNEAL OPACITIES, CONGENITAL, WITH CORNEA GUTTATA AND CORECTOPIA HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT OMIM:608484 HPO:skoehler 17.10.2012
+OMIM:608484 608484 CONGENITAL CORNEAL OPACITIES, CORNEA GUTTATA, AND CORECTOPIA;;CORNEAL OPACITIES, CONGENITAL, WITH CORNEA GUTTATA AND CORECTOPIA HP:0000479 Abnormality of the retina IEA IEA NOT NOT OMIM-CS:HEAD AND NECK_EYES > NORMAL RETINA OMIM:608484 HPO:skoehler 27.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609197.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609197.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609197.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -2,3 +2,5 @@
OMIM:609197 GLUCOCORTICOID DEFICIENCY 3 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:609197 HPO 17.02.2009
OMIM:609197 GLUCOCORTICOID DEFICIENCY 3 HP:0000953 Hyperpigmentation of the skin IEA IEA OMIM:609197 HPO 17.02.2009
OMIM:609197 GLUCOCORTICOID DEFICIENCY 3 HP:0001988 Recurrent hypoglycemia IEA IEA OMIM:609197 HPO 17.02.2009
+OMIM:609197 %609197 GLUCOCORTICOID DEFICIENCY 3; GCCD3;;FAMILIAL GLUCOCORTICOID DEFICIENCY 3; FGD3;;GLUCOCORTICOID DEFICIENCY 2, FORMERLY; GCCD2, FORMERLY HP:0040085 Abnormal circulating aldosterone IEA IEA NOT NOT OMIM-CS:LABORATORY ABNORMALITIES > NORMAL PLASMA ALDOSTERONE OMIM:609197 HPO:skoehler 27.11.2014
+OMIM:609197 %609197 GLUCOCORTICOID DEFICIENCY 3; GCCD3;;FAMILIAL GLUCOCORTICOID DEFICIENCY 3; FGD3;;GLUCOCORTICOID DEFICIENCY 2, FORMERLY; GCCD2, FORMERLY HP:0040084 Abnormal circulating renin IEA IEA NOT NOT OMIM-CS:LABORATORY ABNORMALITIES > NORMAL PLASMA RENIN OMIM:609197 HPO:skoehler 27.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611426.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611426.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611426.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -2,3 +2,5 @@
OMIM:611426 TENTED EYEBROWS HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:611426 HPO 17.02.2009
OMIM:611426 TENTED EYEBROWS HP:0000478 Abnormality of the eye IEA IEA OMIM:611426 HPO 17.02.2009
OMIM:611426 TENTED EYEBROWS HP:0001595 Abnormality of the hair IEA IEA OMIM:611426 HPO 17.02.2009
+OMIM:611426 611426 TENTED EYEBROWS HP:0000499 Abnormality of the eyelashes IEA IEA NOT NOT OMIM-CS:HEAD AND NECK_EYES > NORMAL EYELASHES OMIM:611426 HPO:skoehler 27.11.2014
+OMIM:611426 611426 TENTED EYEBROWS HP:0000499 Abnormality of the eyelashes IEA IEA NOT NOT OMIM-CS:SKIN, NAILS, HAIR_HAIR > NORMAL EYELASHES OMIM:611426 HPO:skoehler 27.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612782.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612782.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612782.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -8,3 +8,5 @@
OMIM:612782 IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT HP:0003198 Myopathy IEA IEA OMIM:612782 HPO:skoehler 20.06.2010
OMIM:612782 IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT HP:0010280 Stomatitis IEA IEA OMIM:612782 HPO:skoehler 20.06.2010
OMIM:612782 #612782 IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT1 HP:0011107 Recurrent aphthous stomatitis IEA IEA OMIM-CS:HEAD AND NECK_NECK > APHTHOUS STOMATITIS OMIM:612782 HPO:skoehler 17.10.2012
+OMIM:612782 #612782 IMMUNODEFICIENCY 9; IMD9;;IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT1 HP:0040088 Abnormal lymphocyte count IEA IEA NOT NOT OMIM-CS:IMMUNOLOGY > NORMAL LYMPHOCYTE COUNTS OMIM:612782 HPO:skoehler 27.11.2014
+OMIM:612782 #612782 IMMUNODEFICIENCY 9; IMD9;;IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT1 HP:0010701 Abnormal immunoglobulin level IEA IEA NOT NOT OMIM-CS:IMMUNOLOGY > NORMAL SERUM IMMUNOGLOBULIN LEVELS OMIM:612782 HPO:skoehler 27.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612783.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612783.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612783.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -9,3 +9,5 @@
OMIM:612783 IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT HP:0003198 Myopathy IEA IEA OMIM:612783 HPO:skoehler 20.06.2010
OMIM:612783 IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT HP:0007676 Hypoplasia of the iris IEA IEA OMIM:612783 HPO:skoehler 20.06.2010
OMIM:612783 #612783 IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT2;;STIM1 DEFICIENCY HP:0002718 Recurrent bacterial infections IEA IEA OMIM-CS:IMMUNOLOGY > RECURRENT BACTERIAL INFECTIONS OMIM:612783 HPO:skoehler 17.10.2012
+OMIM:612783 #612783 IMMUNODEFICIENCY 10; IMD10;;IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT2;;STIM1 DEFICIENCY HP:0040088 Abnormal lymphocyte count IEA IEA NOT NOT OMIM-CS:IMMUNOLOGY > NORMAL LYMPHOCYTE COUNTS OMIM:612783 HPO:skoehler 27.11.2014
+OMIM:612783 #612783 IMMUNODEFICIENCY 10; IMD10;;IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT2;;STIM1 DEFICIENCY HP:0010701 Abnormal immunoglobulin level IEA IEA NOT NOT OMIM-CS:IMMUNOLOGY > NORMAL SERUM IMMUNOGLOBULIN LEVELS OMIM:612783 HPO:skoehler 27.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613021.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613021.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613021.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -3,3 +3,4 @@
OMIM:613021 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2; BESC2 HP:0002110 Bronchiectasis IEA IEA OMIM:613021 HPO:skoehler 19.06.2010
OMIM:613021 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2; BESC2 HP:0004469 Chronic bronchitis IEA IEA OMIM:613021 HPO:skoehler 19.06.2010
OMIM:613021 #613021 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2; BESC2;;CYSTIC FIBROSIS-LIKE SYNDROME HP:0012236 Elevated sweat chloride IEA IEA rare OMIM-CS:LABORATORY ABNORMALITIES > ELEVATED SWEAT CHLORIDE (SOME) OMIM:613021 HPO:skoehler 02.04.2013
+OMIM:613021 #613021 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2; BESC2;;CYSTIC FIBROSIS-LIKE SYNDROME HP:0012092 Abnormality of exocrine pancreas physiology IEA IEA NOT NOT OMIM-CS:LABORATORY ABNORMALITIES > NORMAL EXOCRINE PANCREATIC FUNCTION OMIM:613021 HPO:skoehler 27.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613493.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613493.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613493.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -7,3 +7,4 @@
OMIM:613493 #613493 IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3;;ANTIBODY DEFICIENCY DUE TO CD19 DEFECT HP:0002205 Recurrent respiratory infections TAS TAS OMIM:613493 HPO:skoehler Nov 21, 2012
OMIM:613493 #613493 IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3;;ANTIBODY DEFICIENCY DUE TO CD19 DEFECT HP:0000509 Conjunctivitis TAS TAS recurrent OMIM:613493 HPO:skoehler May 31, 2013
OMIM:613493 #613493 IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3;;ANTIBODY DEFICIENCY DUE TO CD19 DEFECT HP:0011839 Abnormality of T cell number IEA IEA NOT NOT OMIM-CS:IMMUNOLOGY > NORMAL NUMBERS OF T CELLS OMIM:613493 HPO:skoehler 27.11.2014
+OMIM:613493 #613493 IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3;;ANTIBODY DEFICIENCY DUE TO CD19 DEFECT HP:0010975 Abnormality of B cell number IEA IEA NOT NOT OMIM-CS:IMMUNOLOGY > NORMAL NUMBERS OF B CELLS OMIM:613493 HPO:skoehler 27.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613495.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613495.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613495.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -4,3 +4,4 @@
OMIM:613495 #613495 IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5;;ANTIBODY DEFICIENCY DUE TO CD20 DEFECT HP:0004313 Hypogammaglobulinemia IEA IEA OMIM-CS:LABORATORY ABNORMALITIES > HYPOGAMMAGLOBULINEMIA OMIM:613495 HPO:skoehler 17.10.2012
OMIM:613495 #613495 IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5;;ANTIBODY DEFICIENCY DUE TO CD20 DEFECT HP:0002205 Recurrent respiratory infections IEA IEA OMIM-CS:RESPIRATORY > RESPIRATORY INFECTIONS, RECURRENT OMIM:613495 HPO:skoehler 21.11.2012
OMIM:613495 #613495 IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5;;ANTIBODY DEFICIENCY DUE TO CD20 DEFECT HP:0011839 Abnormality of T cell number IEA IEA NOT NOT OMIM-CS:IMMUNOLOGY > NORMAL NUMBERS OF T CELLS OMIM:613495 HPO:skoehler 27.11.2014
+OMIM:613495 #613495 IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5;;ANTIBODY DEFICIENCY DUE TO CD20 DEFECT HP:0010975 Abnormality of B cell number IEA IEA NOT NOT OMIM-CS:IMMUNOLOGY > NORMAL NUMBERS OF B CELLS OMIM:613495 HPO:skoehler 27.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613496.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613496.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613496.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -5,3 +5,4 @@
OMIM:613496 #613496 IMMUNODEFICIENCY, COMMON VARIABLE, 6; CVID6;;ANTIBODY DEFICIENCY DUE TO CD81 DEFECT HP:0000979 Purpura IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > PURPURA OMIM:613496 HPO:skoehler 17.10.2012
OMIM:613496 #613496 IMMUNODEFICIENCY, COMMON VARIABLE, 6; CVID6;;ANTIBODY DEFICIENCY DUE TO CD81 DEFECT HP:0002205 Recurrent respiratory infections IEA IEA OMIM-CS:RESPIRATORY > RESPIRATORY INFECTIONS, RECURRENT OMIM:613496 HPO:skoehler 21.11.2012
OMIM:613496 #613496 IMMUNODEFICIENCY, COMMON VARIABLE, 6; CVID6;;ANTIBODY DEFICIENCY DUE TO CD81 DEFECT HP:0011839 Abnormality of T cell number IEA IEA NOT NOT OMIM-CS:IMMUNOLOGY > NORMAL NUMBERS OF T CELLS OMIM:613496 HPO:skoehler 27.11.2014
+OMIM:613496 #613496 IMMUNODEFICIENCY, COMMON VARIABLE, 6; CVID6;;ANTIBODY DEFICIENCY DUE TO CD81 DEFECT HP:0010975 Abnormality of B cell number IEA IEA NOT NOT OMIM-CS:IMMUNOLOGY > NORMAL NUMBERS OF B CELLS OMIM:613496 HPO:skoehler 27.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613839.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613839.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613839.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -15,3 +15,4 @@
OMIM:613839 #613839 MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY;;DHFR DEFICIENCY HP:0000980 Pallor IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > PALLOR OMIM:613839 HPO:skoehler 17.10.2012
OMIM:613839 #613839 MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY;;DHFR DEFICIENCY HP:0012448 Delayed myelination IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED MYELINATION OMIM:613839 HPO:skoehler 28.11.2013
OMIM:613839 #613839 MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY;;DHFR DEFICIENCY HP:0001252 Muscular hypotonia IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > HYPOTONIA OMIM:613839 HPO:skoehler 26.11.2014
+OMIM:613839 #613839 MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY;;DHFR DEFICIENCY HP:0040087 Abnormality of folate in blood IEA IEA NOT NOT OMIM-CS:LABORATORY ABNORMALITIES > NORMAL SERUM FOLATE OMIM:613839 HPO:skoehler 27.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615067.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615067.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615067.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -12,3 +12,4 @@
OMIM:615067 #615067 CILIARY DYSKINESIA, PRIMARY, 20; CILD20;;CILIARY DYSKINESIA, PRIMARY, 20, WITH OR WITHOUT SITUS INVERSUS HP:0012256 Absent outer dynein arms TAS TAS OMIM:615067 HPO:probinson Apr 7, 2013
OMIM:615067 #615067 CILIARY DYSKINESIA, PRIMARY, 20; CILD20;;CILIARY DYSKINESIA, PRIMARY, 20, WITH OR WITHOUT SITUS INVERSUS HP:0200073 Respiratory insufficiency due to defective ciliary clearance IEA IEA OMIM-CS:RESPIRATORY > RESPIRATORY INSUFFICIENCY DUE TO DEFECTIVE CILIARY CLEARANCE OMIM:615067 HPO:skoehler 04.06.2013
OMIM:615067 #615067 CILIARY DYSKINESIA, PRIMARY, 20; CILD20;;CILIARY DYSKINESIA, PRIMARY, 20, WITH OR WITHOUT SITUS INVERSUS HP:0012735 Cough IEA IEA OMIM-CS:RESPIRATORY > COUGH OMIM:615067 HPO:skoehler 24.03.2014
+OMIM:615067 #615067 CILIARY DYSKINESIA, PRIMARY, 20; CILD20;;CILIARY DYSKINESIA, PRIMARY, 20, WITH OR WITHOUT SITUS INVERSUS HP:0000144 Decreased fertility IEA IEA NOT NOT OMIM-CS:GENITOURINARY_INTERNAL GENITALIA, MALE > NORMAL FERTILITY OMIM:615067 HPO:skoehler 27.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615214.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615214.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615214.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -5,3 +5,4 @@
OMIM:615214 #615214 AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE; AGM7;;AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO PIK3R1 DEFECT HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:615214 HPO:skoehler 07.05.2013
OMIM:615214 #615214 AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE; AGM7;;AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO PIK3R1 DEFECT HP:0003593 Infantile onset IEA IEA OMIM-CS:MISCELLANEOUS > ONSET IN INFANCY OMIM:615214 HPO:skoehler 07.05.2013
OMIM:615214 #615214 AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE; AGM7;;AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO PIK3R1 DEFECT HP:0002205 Recurrent respiratory infections IEA IEA OMIM-CS:RESPIRATORY > RESPIRATORY INFECTIONS, RECURRENT OMIM:615214 HPO:skoehler 07.05.2013
+OMIM:615214 #615214 AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE; AGM7;;AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO PIK3R1 DEFECT HP:0002843 Abnormality of T cells IEA IEA NOT NOT OMIM-CS:IMMUNOLOGY > NORMAL T CELLS OMIM:615214 HPO:skoehler 27.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615542.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615542.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615542.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -6,3 +6,4 @@
OMIM:615542 #615542 TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE; TACHD HP:0000028 Cryptorchidism IEA IEA OMIM-CS:GENITOURINARY_INTERNAL GENITALIA, MALE > CRYPTORCHIDISM OMIM:615542 HPO:skoehler 28.01.2014
OMIM:615542 #615542 TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE; TACHD HP:0008715 Testicular dysgenesis IEA IEA OMIM-CS:GENITOURINARY_INTERNAL GENITALIA, MALE > TESTICULAR DYSGENESIS OMIM:615542 HPO:skoehler 28.01.2014
OMIM:615542 #615542 TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE; TACHD HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT OMIM:615542 HPO:skoehler 28.01.2014
+OMIM:615542 #615542 TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE; TACHD HP:0002926 Abnormality of thyroid physiology IEA IEA NOT NOT OMIM-CS:ENDOCRINE FEATURES > NORMAL THYROID FUNCTION OMIM:615542 HPO:skoehler 27.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615607.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615607.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615607.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -7,3 +7,5 @@
OMIM:615607 #615607 IMMUNODEFICIENCY 17; IMD17;;CD3-GAMMA DEFICIENCY;;SCID-LIKE IMMUNODEFICIENCY, T CELL-PARTIAL, B CELL-POSITIVE, NK CELL-POSITIVE HP:0002205 Recurrent respiratory infections IEA IEA OMIM-CS:RESPIRATORY > RESPIRATORY INFECTIONS, RECURRENT OMIM:615607 HPO:skoehler 25.02.2014
OMIM:615607 #615607 IMMUNODEFICIENCY 17; IMD17;;CD3-GAMMA DEFICIENCY;;SCID-LIKE IMMUNODEFICIENCY, T CELL-PARTIAL, B CELL-POSITIVE, NK CELL-POSITIVE HP:0000964 Eczema IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > DERMATITIS OMIM:615607 HPO:skoehler 25.02.2014
OMIM:615607 #615607 IMMUNODEFICIENCY 17; IMD17;;CD3-GAMMA DEFICIENCY;;SCID-LIKE IMMUNODEFICIENCY, T CELL-PARTIAL, B CELL-POSITIVE, NK CELL-POSITIVE HP:0002721 Immunodeficiency IEA IEA OMIM-CS:IMMUNOLOGY > PRIMARY IMMUNODEFICIENCY OMIM:615607 HPO:skoehler 24.06.2014
+OMIM:615607 #615607 IMMUNODEFICIENCY 17; IMD17;;CD3-GAMMA DEFICIENCY;;SCID-LIKE IMMUNODEFICIENCY, T CELL-PARTIAL, B CELL-POSITIVE, NK CELL-POSITIVE HP:0002846 Abnormality of B cells IEA IEA NOT NOT OMIM-CS:IMMUNOLOGY > NORMAL B CELLS OMIM:615607 HPO:skoehler 27.11.2014
+OMIM:615607 #615607 IMMUNODEFICIENCY 17; IMD17;;CD3-GAMMA DEFICIENCY;;SCID-LIKE IMMUNODEFICIENCY, T CELL-PARTIAL, B CELL-POSITIVE, NK CELL-POSITIVE HP:0002843 Abnormality of T cells IEA IEA NOT NOT OMIM-CS:IMMUNOLOGY > NORMAL T CELLS OMIM:615607 HPO:skoehler 27.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615615.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615615.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615615.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -6,3 +6,5 @@
OMIM:615615 #615615 IMMUNODEFICIENCY 18; IMD18;;CD3-EPSILON DEFICIENCYIMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT, INCLUDED;;IMMUNODEFICIENCY 18, SCID VARIANT, INCLUDED HP:0003828 Variable expressivity IEA IEA OMIM-CS:MISCELLANEOUS > VARIABLE SEVERITY OMIM:615615 HPO:skoehler 06.02.2014
OMIM:615615 #615615 IMMUNODEFICIENCY 18; IMD18;;CD3-EPSILON DEFICIENCYIMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT, INCLUDED;;IMMUNODEFICIENCY 18, SCID VARIANT, INCLUDED HP:0002205 Recurrent respiratory infections IEA IEA OMIM-CS:RESPIRATORY > RESPIRATORY INFECTIONS, RECURRENT OMIM:615615 HPO:skoehler 06.02.2014
OMIM:615615 #615615 IMMUNODEFICIENCY 18; IMD18;;CD3-EPSILON DEFICIENCYIMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT, INCLUDED;;IMMUNODEFICIENCY 18, SCID VARIANT, INCLUDED HP:0002721 Immunodeficiency IEA IEA OMIM-CS:IMMUNOLOGY > PRIMARY IMMUNODEFICIENCY OMIM:615615 HPO:skoehler 24.06.2014
+OMIM:615615 #615615 IMMUNODEFICIENCY 18; IMD18;;CD3-EPSILON DEFICIENCYIMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT, INCLUDED;;IMMUNODEFICIENCY 18, SCID VARIANT, INCLUDED HP:0002846 Abnormality of B cells IEA IEA NOT NOT OMIM-CS:IMMUNOLOGY > NORMAL B CELLS OMIM:615615 HPO:skoehler 27.11.2014
+OMIM:615615 #615615 IMMUNODEFICIENCY 18; IMD18;;CD3-EPSILON DEFICIENCYIMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT, INCLUDED;;IMMUNODEFICIENCY 18, SCID VARIANT, INCLUDED HP:0012176 Abnormality of natural killer cells IEA IEA NOT NOT OMIM-CS:IMMUNOLOGY > NORMAL NK CELLS OMIM:615615 HPO:skoehler 27.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615617.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615617.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615617.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -7,3 +7,5 @@
OMIM:615617 #615617 IMMUNODEFICIENCY 19; IMD19;;CD3-DELTA DEFICIENCY;;SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B CELL-POSITIVE,NK CELL-POSITIVE;;SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE HP:0003593 Infantile onset IEA IEA OMIM-CS:MISCELLANEOUS > ONSET IN INFANCY OMIM:615617 HPO:skoehler 06.02.2014
OMIM:615617 #615617 IMMUNODEFICIENCY 19; IMD19;;CD3-DELTA DEFICIENCY;;SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B CELL-POSITIVE,NK CELL-POSITIVE;;SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE HP:0002205 Recurrent respiratory infections IEA IEA OMIM-CS:RESPIRATORY > RESPIRATORY INFECTIONS, RECURRENT OMIM:615617 HPO:skoehler 06.02.2014
OMIM:615617 #615617 IMMUNODEFICIENCY 19; IMD19;;CD3-DELTA DEFICIENCY;;SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B CELL-POSITIVE,NK CELL-POSITIVE;;SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE HP:0002721 Immunodeficiency IEA IEA OMIM-CS:IMMUNOLOGY > PRIMARY IMMUNODEFICIENCY OMIM:615617 HPO:skoehler 24.06.2014
+OMIM:615617 #615617 IMMUNODEFICIENCY 19; IMD19;;CD3-DELTA DEFICIENCY;;SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B CELL-POSITIVE,NK CELL-POSITIVE;;SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE HP:0002846 Abnormality of B cells IEA IEA NOT NOT OMIM-CS:IMMUNOLOGY > NORMAL B CELLS OMIM:615617 HPO:skoehler 27.11.2014
+OMIM:615617 #615617 IMMUNODEFICIENCY 19; IMD19;;CD3-DELTA DEFICIENCY;;SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B CELL-POSITIVE,NK CELL-POSITIVE;;SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE HP:0012176 Abnormality of natural killer cells IEA IEA NOT NOT OMIM-CS:IMMUNOLOGY > NORMAL NK CELLS OMIM:615617 HPO:skoehler 27.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615841.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615841.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615841.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -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:615841 #615841 SPERMATOGENIC FAILURE 13; SPGF13 HP:0000027 Azoospermia IEA IEA OMIM-CS:GENITOURINARY_INTERNAL GENITALIA, MALE > AZOOSPERMIA OMIM:615841 HPO:skoehler 11.07.2014
OMIM:615841 #615841 SPERMATOGENIC FAILURE 13; SPGF13 HP:0030087 Abnormal testosterone level IEA IEA NOT NOT OMIM-CS:ENDOCRINE FEATURES > NORMAL TESTOSTERONE LEVEL OMIM:615841 HPO:skoehler 27.11.2014
+OMIM:615841 #615841 SPERMATOGENIC FAILURE 13; SPGF13 HP:0040086 Abnormal prolactin level IEA IEA NOT NOT OMIM-CS:ENDOCRINE FEATURES > NORMAL PROLACTIN LEVEL OMIM:615841 HPO:skoehler 27.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615842.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615842.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615842.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -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:615842 #615842 SPERMATOGENIC FAILURE 14; SPGF14 HP:0000027 Azoospermia IEA IEA OMIM-CS:GENITOURINARY_INTERNAL GENITALIA, MALE > AZOOSPERMIA OMIM:615842 HPO:skoehler 11.07.2014
OMIM:615842 #615842 SPERMATOGENIC FAILURE 14; SPGF14 HP:0030087 Abnormal testosterone level IEA IEA NOT NOT OMIM-CS:ENDOCRINE FEATURES > NORMAL TESTOSTERONE LEVEL OMIM:615842 HPO:skoehler 27.11.2014
+OMIM:615842 #615842 SPERMATOGENIC FAILURE 14; SPGF14 HP:0040086 Abnormal prolactin level IEA IEA NOT NOT OMIM-CS:ENDOCRINE FEATURES > NORMAL PROLACTIN LEVEL OMIM:615842 HPO:skoehler 27.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615966.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615966.tab 2014-11-27 11:15:46 UTC (rev 5230)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615966.tab 2014-11-27 17:14:45 UTC (rev 5231)
@@ -22,3 +22,4 @@
OMIM:615966 #615966 IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES; IMD26 HP:0002079 Hypoplasia of the corpus callosum IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > THIN CORPUS CALLOSUM (1 PATIENT) OMIM:615966 HPO:skoehler 26.11.2014
OMIM:615966 #615966 IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES; IMD26 HP:0002783 Recurrent lower respiratory tract infections IEA IEA MODIFIER:RECURRENT;OMIM-CS:RESPIRATORY > LOWER RESPIRATORY TRACT INFECTIONS, RECURRENT OMIM:615966 HPO:skoehler 26.11.2014
OMIM:615966 #615966 IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES; IMD26 HP:0010557 Overlapping fingers IEA IEA rare OMIM-CS:SKELETAL_HANDS > OVERLAPPING FINGERS (1 PATIENT) OMIM:615966 HPO:skoehler 26.11.2014
+OMIM:615966 #615966 IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES; IMD26 HP:0012176 Abnormality of natural killer cells IEA IEA NOT NOT OMIM-CS:IMMUNOLOGY > NORMAL NK CELLS OMIM:615966 HPO:skoehler 27.11.2014
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From: <koe...@us...> - 2014-11-26 16:34:51
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Revision: 5229
http://sourceforge.net/p/obo/svn/5229
Author: koehlers
Date: 2014-11-26 16:34:44 +0000 (Wed, 26 Nov 2014)
Log Message:
-----------
part 2: major annotation update based on updated scripts to fetch from omim.txt (e.g. a log of negative annotations added)
Modified Paths:
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phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102500.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-103050.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-103580.tab
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phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613559.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613604.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613610.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613623.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613641.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613661.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613662.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613670.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613672.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613720.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613735.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613750.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613776.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613839.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613845.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613849.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613884.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613926.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613933.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614019.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614052.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614055.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614078.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614080.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614098.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614099.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614114.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614115.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614187.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614207.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614219.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614230.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614231.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614261.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614300.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614325.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614340.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614376.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614388.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614407.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614424.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614437.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614455.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614458.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614462.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614464.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614465.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614482.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614501.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614507.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614520.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614541.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614558.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614559.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614575.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614592.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614613.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614643.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614654.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614678.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614688.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614701.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614702.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614707.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614727.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614739.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614741.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614749.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614750.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614800.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614807.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614813.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614819.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614830.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614831.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614837.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614841.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614842.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614852.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614856.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614857.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614898.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614929.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614932.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614946.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614947.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614959.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614961.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614969.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614976.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615006.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615031.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615057.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615075.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615085.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615119.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615157.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615159.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615191.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615198.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615273.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615282.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615286.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615314.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615349.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615351.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615352.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615356.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615368.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615381.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615398.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615440.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615471.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615473.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615476.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615493.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615502.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615503.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615510.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615511.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615512.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615516.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615522.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615528.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615541.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615544.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615546.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615552.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615553.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615574.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615578.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615596.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615597.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615630.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615633.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615636.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615637.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615656.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615716.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615760.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-615771.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615777.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615803.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615816.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615828.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615829.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615838.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615846.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615849.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615873.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615885.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615907.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615917.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615948.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615960.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616006.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616028.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102500.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102500.tab 2014-11-26 16:32:44 UTC (rev 5228)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102500.tab 2014-11-26 16:34:44 UTC (rev 5229)
@@ -51,3 +51,4 @@
OMIM:102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0000280 Coarse facial features IEA IEA OMIM-CS:HEAD AND NECK_FACE > COARSE FACIES OMIM:102500 HPO:skoehler 18.11.2013
OMIM:102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0000293 Full cheeks IEA IEA OMIM-CS:HEAD AND NECK_FACE > FULL CHEEKS OMIM:102500 HPO:skoehler 18.11.2013
OMIM:102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0005758 Basilar impression IEA IEA OMIM-CS:SKELETAL_SKULL > PROGRESSIVE BASILAR IMPRESSION OMIM:102500 HPO:skoehler 24.06.2014
+OMIM:102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0001249 Intellectual disability IEA IEA NOT NOT OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > NORMAL INTELLIGENCE OMIM:102500 HPO:skoehler 26.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-103050.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-103050.tab 2014-11-26 16:32:44 UTC (rev 5228)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-103050.tab 2014-11-26 16:34:44 UTC (rev 5229)
@@ -38,3 +38,4 @@
MIM:103050 ADENYLOSUCCINASE DEFICIENCY MIM:608222 ADENYLOSUCCINATE LYASE ADSL HP:0000817 Poor eye contact IEA IEA HPO:skoehler Oct 9, 2012
MIM:103050 ADENYLOSUCCINASE DEFICIENCY MIM:608222 ADENYLOSUCCINATE LYASE ADSL HP:0001263 Global developmental delay IEA IEA HPO:skoehler Oct 9, 2012
OMIM:103050 #103050 ADENYLOSUCCINASE DEFICIENCY;;ADENYLOSUCCINATE LYASE DEFICIENCY;;ADSL DEFICIENCY HP:0200086 Thin upper lip IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > THIN UPPER LIP OMIM:103050 HPO:skoehler 04.06.2013
+OMIM:103050 #103050 ADENYLOSUCCINASE DEFICIENCY;;ADENYLOSUCCINATE LYASE DEFICIENCY;;ADSL DEFICIENCY HP:0001252 Muscular hypotonia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPOTONIA OMIM:103050 HPO:skoehler 26.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-103580.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-103580.tab 2014-11-26 16:32:44 UTC (rev 5228)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-103580.tab 2014-11-26 16:34:44 UTC (rev 5229)
@@ -29,3 +29,5 @@
OMIM:103580 ALBRIGHT HEREDITARY OSTEODYSTROPHY HP:0009381 Short finger TAS TAS OMIM:103580 HPO:probinson Jun 10, 2012
OMIM:103580 ALBRIGHT HEREDITARY OSTEODYSTROPHY HP:0001249 Intellectual disability IEA IEA OMIM:103580 HPO:skoehler Oct 11, 2012
OMIM:103580 #103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A;;PHP IA;;ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE HP:0003812 Phenotypic variability IEA IEA OMIM-CS:MISCELLANEOUS > VARIABLE PHENOTYPE OMIM:103580 HPO:skoehler Oct 17, 2012
+OMIM:103580 #103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A;;PHP IA;;ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_FEET > BRACHYDACTYLY OMIM:103580 HPO:skoehler 26.11.2014
+OMIM:103580 #103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A;;PHP IA;;ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY OMIM:103580 HPO:skoehler 26.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-106260.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-106260.tab 2014-11-26 16:32:44 UTC (rev 5228)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-106260.tab 2014-11-26 16:34:44 UTC (rev 5229)
@@ -32,3 +32,4 @@
OMIM:106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE HP:0009755 Ankyloblepharon TAS TAS OMIM:106260 HPO:probinson Feb 17, 2009
OMIM:106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE HP:0000561 Absent eyelashes IEA IEA OMIM:106260 HPO:skoehler Oct 12, 2012
OMIM:106260 #106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE;;AEC SYNDROME;;HAY-WELLS SYNDROME HP:0008404 Nail dystrophy IEA IEA OMIM-CS:SKIN, NAILS, HAIR_NAILS > DYSTROPHIC NAILS OMIM:106260 HPO:skoehler 03.05.2013
+OMIM:106260 #106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE;;AEC SYNDROME;;HAY-WELLS SYNDROME HP:0001249 Intellectual disability IEA IEA NOT NOT OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > NORMAL INTELLIGENCE OMIM:106260 HPO:skoehler 26.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108110.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108110.tab 2014-11-26 16:32:44 UTC (rev 5228)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108110.tab 2014-11-26 16:34:44 UTC (rev 5229)
@@ -28,3 +28,4 @@
OMIM:108110 ARTHROGRYPOSIS MULTIPLEX CONGENITA HP:0009775 Amniotic constriction ring IEA IEA OMIM:108110 HPO 17.02.2009
OMIM:108110 ARTHROGRYPOSIS MULTIPLEX CONGENITA HP:0003196 Short nose TAS TAS OMIM:108110 HPO:probinson 01.05.2012
OMIM:108110 ARTHROGRYPOSIS MULTIPLEX CONGENITA HP:0000463 Anteverted nares TAS TAS OMIM:108110 HPO:probinson 01.05.2012
+OMIM:108110 108110 ARTHROGRYPOSIS MULTIPLEX CONGENITA; AMC HP:0001249 Intellectual disability IEA IEA NOT NOT OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > NORMAL INTELLIGENCE OMIM:108110 HPO:skoehler 26.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108120.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108120.tab 2014-11-26 16:32:44 UTC (rev 5228)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108120.tab 2014-11-26 16:34:44 UTC (rev 5229)
@@ -19,3 +19,4 @@
OMIM:108120 ARTHROGRYPOSIS, DISTAL, TYPE 1 HP:0003273 Hip contracture IEA IEA 38.0000 % OMIM:108120 HPO Feb 17, 2009
OMIM:108120 ARTHROGRYPOSIS, DISTAL, TYPE 1 HP:0009473 Joint contracture of the hand IEA IEA 25.0000 % OMIM:108120 HPO Feb 17, 2009
OMIM:108120 ARTHROGRYPOSIS, DISTAL, TYPE 1 HP:0009742 Stiff shoulders IEA IEA 17.0000 % OMIM:108120 HPO Feb 17, 2009
+OMIM:108120 #108120 ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A;;ARTHROGRYPOSIS, DISTAL, TYPE 1; DA1;;ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I; AMCD1 HP:0001249 Intellectual disability IEA IEA NOT NOT OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > NORMAL INTELLIGENCE OMIM:108120 HPO:skoehler 26.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108145.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108145.tab 2014-11-26 16:32:44 UTC (rev 5228)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108145.tab 2014-11-26 16:34:44 UTC (rev 5229)
@@ -32,3 +32,4 @@
OMIM:108145 #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB HP:0002091 Restrictive lung disease IEA IEA OMIM-CS:RESPIRATORY_LUNG > RESTRICTIVE LUNG DISEASE 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: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
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108450.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108450.tab 2014-11-26 16:32:44 UTC (rev 5228)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108450.tab 2014-11-26 16:34:44 UTC (rev 5229)
@@ -9,3 +9,4 @@
OMIM:108450 ASYMMETRIC SHORT STATURE SYNDROME HP:0004626 Lumbar scoliosis IEA IEA OMIM:108450 HPO 17.02.2009
OMIM:108450 ASYMMETRIC SHORT STATURE SYNDROME HP:0008929 Asymmetric short stature IEA IEA OMIM:108450 HPO 17.02.2009
OMIM:108450 ASYMMETRIC SHORT STATURE SYNDROME HP:0200053 Hemihypotrophy of lower limb IEA IEA OMIM:108450 HPO 17.02.2009
+OMIM:108450 108450 ASYMMETRIC SHORT STATURE SYNDROME HP:0001249 Intellectual disability IEA IEA NOT NOT OMIM-CS:NEURO > NORMAL INTELLIGENCE OMIM:108450 HPO:skoehler 26.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-109400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-109400.tab 2014-11-26 16:32:44 UTC (rev 5228)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-109400.tab 2014-11-26 16:34:44 UTC (rev 5229)
@@ -52,3 +52,4 @@
MIM:109400 BASAL CELL NEVUS SYNDROME MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0010044 Short 4th metacarpal IEA IEA MIM:109400 HPO:skoehler Oct 12, 2012
MIM:109400 BASAL CELL NEVUS SYNDROME MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0009650 Short distal phalanx of the thumb IEA IEA MIM:109400 HPO:skoehler Oct 12, 2012
MIM:109400 BASAL CELL NEVUS SYNDROME MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0002751 Kyphoscoliosis IEA IEA MIM:109400 HPO:skoehler Oct 12, 2012
+OMIM:109400 #109400 BASAL CELL NEVUS SYNDROME; BCNS;;GORLIN SYNDROME;;GORLIN-GOLTZ SYNDROME;;NEVOID BASAL CELL CARCINOMA SYNDROME; NBCCS;;MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_LIMBS > BRACHYDACTYLY OMIM:109400 HPO:skoehler 26.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-112410.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-112410.tab 2014-11-26 16:32:44 UTC (rev 5228)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-112410.tab 2014-11-26 16:34:44 UTC (rev 5229)
@@ -3,3 +3,4 @@
OMIM:112410 HYPERTENSION WITH BRACHYDACTYLY HP:0000822 Hypertension IEA IEA OMIM:112410 HPO 17.02.2009
OMIM:112410 HYPERTENSION WITH BRACHYDACTYLY HP:0009803 Hypoplastic/small phalanges of the hand IEA IEA OMIM:112410 HPO 17.02.2009
OMIM:112410 HYPERTENSION WITH BRACHYDACTYLY HP:0010049 Short metacarpal IEA IEA OMIM:112410 HPO 17.02.2009
+OMIM:112410 %112410 HYPERTENSION WITH BRACHYDACTYLY;;HTNB;;BRACHYDACTYLY WITH HYPERTENSION;;BRACHYDACTYLY, TYPE E, WITH SHORT STATURE AND HYPERTENSION;;BILGINTURAN SYNDROME HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:LIMBS > BRACHYDACTYLY OMIM:112410 HPO:skoehler 26.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-112600.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-112600.tab 2014-11-26 16:32:44 UTC (rev 5228)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-112600.tab 2014-11-26 16:34:44 UTC (rev 5229)
@@ -17,3 +17,4 @@
MIM:112600 BRACHYDACTYLY, TYPE A2 MIM:603248 / wt; MIM:601146 / wt BMPR1B, GDF5 HP:0001822 Hallux valgus TAS TAS MIM:112600 HPO:probinson Jun 8, 2012
OMIM:112600 #112600 BRACHYDACTYLY, TYPE A2; BDA2;;BRACHYMESOPHALANGY II;;MOHR-WRIEDT TYPE BRACHYDACTYLY HP:0009464 Ulnar deviation of the 2nd finger IEA IEA OMIM-CS:SKELETAL_HANDS > MEDIALLY DEVIATED INDEX FINGER OMIM:112600 HPO:skoehler Oct 17, 2012
OMIM:112600 #112600 BRACHYDACTYLY, TYPE A2; BDA2;;BRACHYMESOPHALANGY II;;MOHR-WRIEDT TYPE BRACHYDACTYLY HP:0004691 2-3 toe syndactyly IEA IEA OMIM-CS:SKELETAL_FEET > SYNDACTYLY (2-3) OMIM:112600 HPO:skoehler Nov 16, 2012
+OMIM:112600 #112600 BRACHYDACTYLY, TYPE A2; BDA2;;BRACHYMESOPHALANGY II;;MOHR-WRIEDT TYPE BRACHYDACTYLY HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY OMIM:112600 HPO:skoehler 26.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-113100.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-113100.tab 2014-11-26 16:32:44 UTC (rev 5228)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-113100.tab 2014-11-26 16:34:44 UTC (rev 5229)
@@ -30,3 +30,4 @@
MIM:113100 BRACHYDACTYLY, TYPE C MIM:601146 / wt; MIM:603248.0004 / wt GDF5; BMPR1B HP:0011929 Hypersegmentation of proximal phalanx of third finger TAS TAS MIM:113100 HPO:probinson 10.06.2012
OMIM:113100 #113100 BRACHYDACTYLY, TYPE C; BDC;;BRACHYDACTYLY, HAWS TYPE HP:0010442 Polydactyly IEA IEA OMIM-CS:SKELETAL_HANDS > POLYDACTYLY OMIM:113100 HPO:skoehler 17.10.2012
OMIM:113100 #113100 BRACHYDACTYLY, TYPE C; BDC;;BRACHYDACTYLY, HAWS TYPE HP:0003067 Madelung deformity IEA IEA OMIM-CS:SKELETAL_LIMBS > MADELUNG DEFORMITY OMIM:113100 HPO:skoehler 17.10.2012
+OMIM:113100 #113100 BRACHYDACTYLY, TYPE C; BDC;;BRACHYDACTYLY, HAWS TYPE HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY OMIM:113100 HPO:skoehler 26.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-113500.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-113500.tab 2014-11-26 16:32:44 UTC (rev 5228)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-113500.tab 2014-11-26 16:34:44 UTC (rev 5229)
@@ -12,3 +12,4 @@
OMIM:113500 BRACHYRACHIA HP:0008922 Childhood-onset short-trunk short stature IEA IEA OMIM:113500 HPO Feb 17, 2009
OMIM:113500 BRACHYRACHIA HP:0009466 Radial deviation of finger IEA IEA OMIM:113500 HPO Feb 17, 2009
OMIM:113500 #113500 BRACHYOLMIA TYPE 3;;BRACHYOLMIA, AUTOSOMAL DOMINANT;;BRACHYRACHIA HP:0030084 Clinodactyly IEA IEA OMIM-CS:SKELETAL_HANDS > CLINODACTYLY OMIM:113500 HPO:skoehler 21.09.2014
+OMIM:113500 #113500 BRACHYOLMIA TYPE 3;;BRACHYOLMIA, AUTOSOMAL DOMINANT;;BRACHYRACHIA HP:0001249 Intellectual disability IEA IEA NOT NOT OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > NORMAL INTELLIGENCE OMIM:113500 HPO:skoehler 26.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-114100.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-114100.tab 2014-11-26 16:32:44 UTC (rev 5228)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-114100.tab 2014-11-26 16:34:44 UTC (rev 5229)
@@ -18,3 +18,4 @@
OMIM:114100 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET HP:0006887 Intellectual disability, progressive IEA IEA OMIM:114100 HPO 17.02.2009
OMIM:114100 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET HP:0003121 Limb contractures TAS TAS Severe OMIM:114100 HPO:probinson 27.05.2012
OMIM:114100 %114100 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET;;IBGC, CHILDHOOD-ONSET;;STRIOPALLIDODENTATE CALCINOSIS, BILATERAL, CHILDHOOD-ONSET;;CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC, IDIOPATHIC, CHILDHOOD-ONSET HP:0010864 Intellectual disability, severe IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, SEVERE OMIM:114100 HPO:skoehler 17.10.2012
+OMIM:114100 %114100 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET;;IBGC, CHILDHOOD-ONSET;;STRIOPALLIDODENTATE CALCINOSIS, BILATERAL, CHILDHOOD-ONSET;;CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC, IDIOPATHIC, CHILDHOOD-ONSET HP:0040077 Abnormal concentration of calcium in blood IEA IEA NOT NOT OMIM-CS:LABORATORY ABNORMALITIES > NORMAL SERUM CALCIUM OMIM:114100 HPO:skoehler 26.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-122440.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-122440.tab 2014-11-26 16:32:44 UTC (rev 5228)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-122440.tab 2014-11-26 16:34:44 UTC (rev 5229)
@@ -9,3 +9,4 @@
OMIM:122440 CORNEODERMATOOSSEOUS SYNDROME HP:0001806 Onycholysis IEA IEA OMIM:122440 HPO:skoehler 20.06.2010
OMIM:122440 CORNEODERMATOOSSEOUS SYNDROME HP:0004322 Short stature IEA IEA OMIM:122440 HPO 17.02.2009
OMIM:122440 CORNEODERMATOOSSEOUS SYNDROME HP:0009882 Short distal phalanx of finger IEA IEA OMIM:122440 HPO 17.02.2009
+OMIM:122440 122440 CORNEODERMATOOSSEOUS SYNDROME;;CDO SYNDROME;;CORNEAL DYSTROPHY, EPITHELIAL, WITH SKIN AND SKELETAL CHANGES HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:LIMBS > BRACHYDACTYLY OMIM:122440 HPO:skoehler 26.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-123560.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-123560.tab 2014-11-26 16:32:44 UTC (rev 5228)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-123560.tab 2014-11-26 16:34:44 UTC (rev 5229)
@@ -6,3 +6,4 @@
OMIM:123560 CRYPTOMICROTIA-BRACHYDACTYLY SYNDROME HP:0008551 Microtia TAS TAS OMIM:123560 HPO:probinson 17.02.2009
OMIM:123560 CRYPTOMICROTIA-BRACHYDACTYLY SYNDROME HP:0001800 Hypoplastic toenails TAS TAS OMIM:123560 HPO:probinson 17.02.2009
OMIM:123560 CRYPTOMICROTIA-BRACHYDACTYLY SYNDROME HP:0005872 Brachytelomesophalangy TAS TAS OMIM:123560 HPO:probinson 17.02.2009
+OMIM:123560 123560 CRYPTOMICROTIA-BRACHYDACTYLY SYNDROME HP:0001249 Intellectual disability IEA IEA NOT NOT OMIM-CS:NEURO > NORMAL INTELLIGENCE OMIM:123560 HPO:skoehler 26.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-124480.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-124480.tab 2014-11-26 16:32:44 UTC (rev 5228)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-124480.tab 2014-11-26 16:34:44 UTC (rev 5229)
@@ -12,3 +12,4 @@
OMIM:124480 %124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT; DDOD;;DDOD SYNDROME HP:0001199 Triphalangeal thumb TAS TAS rare OMIM:124480 HPO:skoehler Nov 18, 2012
MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0000407 Sensorineural hearing impairment TAS TAS MIM:124480 HPO:probinson Dec 16, 2013
OMIM:124480 %124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT; DDOD;;DDOD SYNDROME HP:0003812 Phenotypic variability IEA IEA OMIM-CS:MISCELLANEOUS > VARIABLE PHENOTYPE OMIM:124480 HPO:skoehler 28.01.2014
+OMIM:124480 %124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT; DDOD;;DDOD SYNDROME HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY OMIM:124480 HPO:skoehler 26.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-127000.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-127000.tab 2014-11-26 16:32:44 UTC (rev 5228)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-127000.tab 2014-11-26 16:34:44 UTC (rev 5229)
@@ -21,3 +21,4 @@
OMIM:127000 #127000 KENNY-CAFFEY SYNDROME, TYPE 2; KCS2;;DWARFISM, CORTICAL THICKENING OF TUBULAR BONES, AND TRANSIENT HYPOCALCEMIA;;KENNY SYNDROME HP:0011220 Prominent forehead IEA IEA OMIM-CS:HEAD AND NECK_FACE > PROMINENT FOREHEAD OMIM:127000 HPO:skoehler 10.09.2013
OMIM:127000 #127000 KENNY-CAFFEY SYNDROME, TYPE 2; KCS2;;DWARFISM, CORTICAL THICKENING OF TUBULAR BONES, AND TRANSIENT HYPOCALCEMIA;;KENNY SYNDROME HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT OMIM:127000 HPO:skoehler 10.09.2013
OMIM:127000 #127000 KENNY-CAFFEY SYNDROME, TYPE 2; KCS2;;DWARFISM, CORTICAL THICKENING OF TUBULAR BONES, AND TRANSIENT HYPOCALCEMIA;;KENNY SYNDROME HP:0001620 High pitched voice IEA IEA rare OMIM-CS:VOICE > HIGH-PITCHED VOICE (IN SOME PATIENTS) OMIM:127000 HPO:skoehler 10.09.2013
+OMIM:127000 #127000 KENNY-CAFFEY SYNDROME, TYPE 2; KCS2;;DWARFISM, CORTICAL THICKENING OF TUBULAR BONES, AND TRANSIENT HYPOCALCEMIA;;KENNY SYNDROME HP:0001249 Intellectual disability IEA IEA NOT NOT OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > NORMAL INTELLIGENCE OMIM:127000 HPO:skoehler 26.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-127350.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-127350.tab 2014-11-26 16:32:44 UTC (rev 5228)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-127350.tab 2014-11-26 16:34:44 UTC (rev 5229)
@@ -6,3 +6,4 @@
OMIM:127350 DYSCHONDROSTEOSIS AND NEPHRITIS HP:0005736 Short tibia IEA IEA OMIM:127350 HPO Feb 17, 2009
OMIM:127350 DYSCHONDROSTEOSIS AND NEPHRITIS HP:0008845 Mesomelic short stature TAS TAS OMIM:127350 HPO Feb 17, 2009
OMIM:127350 127350 DYSCHONDROSTEOSIS AND NEPHRITIS HP:0005773 Short forearm TAS TAS OMIM:127350 HPO:skoehler Oct 17, 2012
+OMIM:127350 127350 DYSCHONDROSTEOSIS AND NEPHRITIS HP:0001249 Intellectual disability IEA IEA NOT NOT OMIM-CS:NEURO > NORMAL INTELLIGENCE OMIM:127350 HPO:skoehler 26.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-130950.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-130950.tab 2014-11-26 16:32:44 UTC (rev 5228)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-130950.tab 2014-11-26 16:34:44 UTC (rev 5229)
@@ -11,3 +11,4 @@
OMIM:130950 130950 ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD HP:0002311 Incoordination IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INCOORDINATION OMIM:130950 HPO:skoehler 17.10.2012
OMIM:130950 130950 ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD HP:0002080 Intention tremor IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTENTION TREMOR OMIM:130950 HPO:skoehler 17.10.2012
OMIM:130950 130950 ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD HP:0003487 Babinski sign IEA IEA variable OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > EXTENSOR PLANTAR RESPONSES (VARIABLE) OMIM:130950 HPO:skoehler 28.11.2012
+OMIM:130950 130950 ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD HP:0001252 Muscular hypotonia IEA IEA MODIFIER:MILD;OMIM-CS:MUSCLE, SOFT TISSUE > HYPOTONIA, MILD OMIM:130950 HPO:skoehler 26.11.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-132450.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-132450.tab 2014-11-26 16:32:44 UTC (rev 5228)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-132450.tab 2014-11-26 16:34:44 UTC (rev 5229)
@@ -10,3 +10,5 @@
OMIM:132450 #132450 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS;EDMMD HP:0002857 Genu valgum TAS TAS OMIM:132450 HPO:skoehler Feb 25, 2013
OMIM:132450 #132450 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS;EDMMD HP:0002673 Coxa valga TAS TAS OMIM:132450 HPO:skoehler May 31, 2013
OMIM:132450 #132450 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS;EDMMD HP:0012368 Flat face TAS TAS OMIM:132450 HPO:skoehler Oct 22, 2013
+OMIM:132450 #132450 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS;EDMMD HP:0000160 Narrow mouth IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > SMALL MOUTH OMIM:132450 HPO:skoehler 26.11.2014
+OMIM:132450 #132450 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS;EDMMD HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY OMIM:132450 HPO:skoehler 26.11.2014
Modified: ...
[truncated message content] |
|
From: <koe...@us...> - 2014-11-26 16:32:50
|
Revision: 5228
http://sourceforge.net/p/obo/svn/5228
Author: koehlers
Date: 2014-11-26 16:32:44 +0000 (Wed, 26 Nov 2014)
Log Message:
-----------
part 1: major annotation update based on updated scripts to fetch from omim.txt (e.g. a log of negative annotations added)
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600151.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-605231.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610743.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615025.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615785.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615821.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615954.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615966.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615973.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615981.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615982.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615983.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615984.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615985.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615986.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615987.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615988.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615989.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615990.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615991.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615993.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615994.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615995.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615996.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616038.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616042.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616045.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616050.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616051.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616055.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616056.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616069.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616078.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616079.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616080.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616081.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616083.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616084.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616095.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616099.tab
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600151.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600151.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600151.tab 2014-11-26 16:32:44 UTC (rev 5228)
@@ -0,0 +1,13 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:600151 #600151 BARDET-BIEDL SYNDROME 3; BBS3 HP:0005180 Tricuspid regurgitation IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > TRICUSPID REGURGITATION (IN SOME PATIENTS) OMIM:600151 HPO:skoehler 26.11.2014
+OMIM:600151 #600151 BARDET-BIEDL SYNDROME 3; BBS3 HP:0003241 External genital hypoplasia IEA IEA OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > HYPOGENITALISM OMIM:600151 HPO:skoehler 26.11.2014
+OMIM:600151 #600151 BARDET-BIEDL SYNDROME 3; BBS3 HP:0000089 Renal hypoplasia IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > RENAL HYPOPLASIA OMIM:600151 HPO:skoehler 26.11.2014
+OMIM:600151 #600151 BARDET-BIEDL SYNDROME 3; BBS3 HP:0001513 Obesity IEA IEA OMIM-CS:GROWTH_WEIGHT > OBESITY OMIM:600151 HPO:skoehler 26.11.2014
+OMIM:600151 #600151 BARDET-BIEDL SYNDROME 3; BBS3 HP:0000556 Retinal dystrophy IEA IEA OMIM-CS:HEAD AND NECK_EYES > RETINAL DYSTROPHY OMIM:600151 HPO:skoehler 26.11.2014
+OMIM:600151 #600151 BARDET-BIEDL SYNDROME 3; BBS3 HP:0000510 Retinitis pigmentosa IEA IEA OMIM-CS:HEAD AND NECK_EYES > RETINITIS PIGMENTOSA OMIM:600151 HPO:skoehler 26.11.2014
+OMIM:600151 #600151 BARDET-BIEDL SYNDROME 3; BBS3 HP:0001263 Global developmental delay IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED DEVELOPMENT (IN SOME PATIENTS) OMIM:600151 HPO:skoehler 26.11.2014
+OMIM:600151 #600151 BARDET-BIEDL SYNDROME 3; BBS3 HP:0001249 Intellectual disability IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTELLECTUAL DISABILITY (IN SOME PATIENTS) OMIM:600151 HPO:skoehler 26.11.2014
+OMIM:600151 #600151 BARDET-BIEDL SYNDROME 3; BBS3 HP:0001249 Intellectual disability IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION (IN SOME PATIENTS) OMIM:600151 HPO:skoehler 26.11.2014
+OMIM:600151 #600151 BARDET-BIEDL SYNDROME 3; BBS3 HP:0010442 Polydactyly IEA IEA OMIM-CS:SKELETAL_FEET > POLYDACTYLY OMIM:600151 HPO:skoehler 26.11.2014
+OMIM:600151 #600151 BARDET-BIEDL SYNDROME 3; BBS3 HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY OMIM:600151 HPO:skoehler 26.11.2014
+OMIM:600151 #600151 BARDET-BIEDL SYNDROME 3; BBS3 HP:0010442 Polydactyly IEA IEA OMIM-CS:SKELETAL_HANDS > POLYDACTYLY OMIM:600151 HPO:skoehler 26.11.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600151.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-605231.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-605231.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-605231.tab 2014-11-26 16:32:44 UTC (rev 5228)
@@ -0,0 +1,11 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:605231 #605231 BARDET-BIEDL SYNDROME 6; BBS6 HP:0000819 Diabetes mellitus IEA IEA OMIM-CS:ENDOCRINE FEATURES > DIABETES MELLITUS OMIM:605231 HPO:skoehler 26.11.2014
+OMIM:605231 #605231 BARDET-BIEDL SYNDROME 6; BBS6 HP:0003241 External genital hypoplasia IEA IEA OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > HYPOGENITALISM OMIM:605231 HPO:skoehler 26.11.2014
+OMIM:605231 #605231 BARDET-BIEDL SYNDROME 6; BBS6 HP:0000047 Hypospadias IEA IEA OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > HYPOSPADIAS OMIM:605231 HPO:skoehler 26.11.2014
+OMIM:605231 #605231 BARDET-BIEDL SYNDROME 6; BBS6 HP:0000107 Renal cyst IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > CYSTIC KIDNEYS OMIM:605231 HPO:skoehler 26.11.2014
+OMIM:605231 #605231 BARDET-BIEDL SYNDROME 6; BBS6 HP:0001513 Obesity IEA IEA OMIM-CS:GROWTH_WEIGHT > OBESITY OMIM:605231 HPO:skoehler 26.11.2014
+OMIM:605231 #605231 BARDET-BIEDL SYNDROME 6; BBS6 HP:0000556 Retinal dystrophy IEA IEA OMIM-CS:HEAD AND NECK_EYES > RETINAL DYSTROPHY OMIM:605231 HPO:skoehler 26.11.2014
+OMIM:605231 #605231 BARDET-BIEDL SYNDROME 6; BBS6 HP:0000510 Retinitis pigmentosa IEA IEA OMIM-CS:HEAD AND NECK_EYES > RETINITIS PIGMENTOSA OMIM:605231 HPO:skoehler 26.11.2014
+OMIM:605231 #605231 BARDET-BIEDL SYNDROME 6; BBS6 HP:0001249 Intellectual disability IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION OMIM:605231 HPO:skoehler 26.11.2014
+OMIM:605231 #605231 BARDET-BIEDL SYNDROME 6; BBS6 HP:0001159 Syndactyly IEA IEA OMIM-CS:SKELETAL_FEET > SYNDACTYLY OMIM:605231 HPO:skoehler 26.11.2014
+OMIM:605231 #605231 BARDET-BIEDL SYNDROME 6; BBS6 HP:0010442 Polydactyly IEA IEA OMIM-CS:SKELETAL_HANDS > POLYDACTYLY OMIM:605231 HPO:skoehler 26.11.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-605231.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610743.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610743.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610743.tab 2014-11-26 16:32:44 UTC (rev 5228)
@@ -0,0 +1,8 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:610743 #610743 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; SCAR8;;ATAXIA, RECESSIVE, OF BEAUCE;;CEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, TYPE 1; ARCA1 HP:0000639 Nystagmus IEA IEA OMIM-CS:HEAD AND NECK_EYES > NYSTAGMUS OMIM:610743 HPO:skoehler 26.11.2014
+OMIM:610743 #610743 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; SCAR8;;ATAXIA, RECESSIVE, OF BEAUCE;;CEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, TYPE 1; ARCA1 HP:0001251 Ataxia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR ATAXIA OMIM:610743 HPO:skoehler 26.11.2014
+OMIM:610743 #610743 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; SCAR8;;ATAXIA, RECESSIVE, OF BEAUCE;;CEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, TYPE 1; ARCA1 HP:0001272 Cerebellar atrophy IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR ATROPHY OMIM:610743 HPO:skoehler 26.11.2014
+OMIM:610743 #610743 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; SCAR8;;ATAXIA, RECESSIVE, OF BEAUCE;;CEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, TYPE 1; ARCA1 HP:0001260 Dysarthria IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DYSARTHRIA OMIM:610743 HPO:skoehler 26.11.2014
+OMIM:610743 #610743 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; SCAR8;;ATAXIA, RECESSIVE, OF BEAUCE;;CEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, TYPE 1; ARCA1 HP:0001310 Dysmetria IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DYSMETRIA OMIM:610743 HPO:skoehler 26.11.2014
+OMIM:610743 #610743 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; SCAR8;;ATAXIA, RECESSIVE, OF BEAUCE;;CEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, TYPE 1; ARCA1 HP:0002066 Gait ataxia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > GAIT ATAXIA OMIM:610743 HPO:skoehler 26.11.2014
+OMIM:610743 #610743 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; SCAR8;;ATAXIA, RECESSIVE, OF BEAUCE;;CEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, TYPE 1; ARCA1 HP:0002070 Limb ataxia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > LIMB ATAXIA OMIM:610743 HPO:skoehler 26.11.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610743.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615025.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615025.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615025.tab 2014-11-26 16:32:44 UTC (rev 5228)
@@ -0,0 +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:615025 #615025 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q; CMT2Q;;CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2Q;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2Q HP:0003202 Amyotrophy IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE ATROPHY OMIM:615025 HPO:skoehler 26.11.2014
+OMIM:615025 #615025 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q; CMT2Q;;CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2Q;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2Q HP:0002355 Difficulty walking IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > DIFFICULTY WALKING OMIM:615025 HPO:skoehler 26.11.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615025.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615785.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615785.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615785.tab 2014-11-26 16:32:44 UTC (rev 5228)
@@ -0,0 +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:615785 #615785 WHITE SPONGE NEVUS 2; WSN2 HP:0040009 Hyperparakeratosis IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > HYPERPARAKERATOSIS OMIM:615785 HPO:skoehler 26.11.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615785.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615821.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615821.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615821.tab 2014-11-26 16:32:44 UTC (rev 5228)
@@ -0,0 +1,8 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:615821 #615821 CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTHAGENESIS; DCWHKTA HP:0001644 Dilated cardiomyopathy IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > CARDIOMYOPATHY, DILATED OMIM:615821 HPO:skoehler 26.11.2014
+OMIM:615821 #615821 CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTHAGENESIS; DCWHKTA HP:0001279 Syncope IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > SYNCOPE (IN SOME PATIENTS) OMIM:615821 HPO:skoehler 26.11.2014
+OMIM:615821 #615821 CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTHAGENESIS; DCWHKTA HP:0002224 Woolly hair IEA IEA OMIM-CS:SKIN, NAILS, HAIR_HAIR > WOOLLY HAIR OMIM:615821 HPO:skoehler 26.11.2014
+OMIM:615821 #615821 CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTHAGENESIS; DCWHKTA HP:0001808 Fragile nails IEA IEA rare OMIM-CS:SKIN, NAILS, HAIR_NAILS > BRITTLE NAILS (RARE) OMIM:615821 HPO:skoehler 26.11.2014
+OMIM:615821 #615821 CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTHAGENESIS; DCWHKTA HP:0001820 Leukonychia IEA IEA rare OMIM-CS:SKIN, NAILS, HAIR_NAILS > LEUKONYCHIA (RARE) OMIM:615821 HPO:skoehler 26.11.2014
+OMIM:615821 #615821 CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTHAGENESIS; DCWHKTA HP:0000962 Hyperkeratosis IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > HYPERKERATOSIS OMIM:615821 HPO:skoehler 26.11.2014
+OMIM:615821 #615821 CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTHAGENESIS; DCWHKTA HP:0000982 Palmoplantar keratoderma IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > PALMOPLANTAR KERATODERMA OMIM:615821 HPO:skoehler 26.11.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615821.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615954.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615954.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615954.tab 2014-11-26 16:32:44 UTC (rev 5228)
@@ -0,0 +1,6 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:615954 #615954 ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2; AIMAH2;;PRIMARY MACRONODULAR ADRENAL HYPERPLASIA HP:0008231 Macronodular adrenal hyperplasia IEA IEA OMIM-CS:ENDOCRINE FEATURES > MACRONODULAR ADRENAL HYPERPLASIA OMIM:615954 HPO:skoehler 26.11.2014
+OMIM:615954 #615954 ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2; AIMAH2;;PRIMARY MACRONODULAR ADRENAL HYPERPLASIA HP:0004324 Increased body weight IEA IEA rare OMIM-CS:GROWTH_WEIGHT > WEIGHT GAIN (IN SOME PATIENTS) OMIM:615954 HPO:skoehler 26.11.2014
+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
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615954.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615966.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615966.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615966.tab 2014-11-26 16:32:44 UTC (rev 5228)
@@ -0,0 +1,24 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:615966 #615966 IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES; IMD26 HP:0000054 Micropenis IEA IEA rare OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > MICROPENIS (1 PATIENT) OMIM:615966 HPO:skoehler 26.11.2014
+OMIM:615966 #615966 IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES; IMD26 HP:0001511 Intrauterine growth retardation IEA IEA rare OMIM-CS:GROWTH_OTHER > INTRAUTERINE GROWTH RETARDATION (1 PATIENT) OMIM:615966 HPO:skoehler 26.11.2014
+OMIM:615966 #615966 IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES; IMD26 HP:0000369 Low-set ears IEA IEA rare OMIM-CS:HEAD AND NECK_EARS > LOW-SET EARS (1 PATIENT) OMIM:615966 HPO:skoehler 26.11.2014
+OMIM:615966 #615966 IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES; IMD26 HP:0000407 Sensorineural hearing impairment IEA IEA rare OMIM-CS:HEAD AND NECK_EARS > SENSORINEURAL HEARING LOSS (1 PATIENT) OMIM:615966 HPO:skoehler 26.11.2014
+OMIM:615966 #615966 IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES; IMD26 HP:0000490 Deeply set eye IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > DEEP-SET EYES (1 PATIENT) OMIM:615966 HPO:skoehler 26.11.2014
+OMIM:615966 #615966 IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES; IMD26 HP:0000505 Visual impairment IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > VISUAL IMPAIRMENT (1 PATIENT) OMIM:615966 HPO:skoehler 26.11.2014
+OMIM:615966 #615966 IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES; IMD26 HP:0000343 Long philtrum IEA IEA rare OMIM-CS:HEAD AND NECK_FACE > LONG PHILTRUM (1 PATIENT) OMIM:615966 HPO:skoehler 26.11.2014
+OMIM:615966 #615966 IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES; IMD26 HP:0011220 Prominent forehead IEA IEA rare OMIM-CS:HEAD AND NECK_FACE > PROMINENT FOREHEAD (1 PATIENT) OMIM:615966 HPO:skoehler 26.11.2014
+OMIM:615966 #615966 IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES; IMD26 HP:0000331 Short chin IEA IEA rare OMIM-CS:HEAD AND NECK_FACE > SMALL CHIN (1 PATIENT) OMIM:615966 HPO:skoehler 26.11.2014
+OMIM:615966 #615966 IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES; IMD26 HP:0000252 Microcephaly IEA IEA OMIM-CS:HEAD AND NECK_HEAD > MICROCEPHALY (1 PATIENT) OMIM:615966 HPO:skoehler 26.11.2014
+OMIM:615966 #615966 IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES; IMD26 HP:0011107 Recurrent aphthous stomatitis IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > APHTHOUS ULCERS OMIM:615966 HPO:skoehler 26.11.2014
+OMIM:615966 #615966 IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES; IMD26 HP:0000219 Thin upper lip vermilion IEA IEA rare OMIM-CS:HEAD AND NECK_MOUTH > THIN UPPER LIP (1 PATIENT) OMIM:615966 HPO:skoehler 26.11.2014
+OMIM:615966 #615966 IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES; IMD26 HP:0000431 Wide nasal bridge IEA IEA rare OMIM-CS:HEAD AND NECK_NOSE > WIDE NASAL BRIDGE (1 PATIENT) OMIM:615966 HPO:skoehler 26.11.2014
+OMIM:615966 #615966 IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES; IMD26 HP:0004430 Severe combined immunodeficiency IEA IEA OMIM-CS:IMMUNOLOGY > SEVERE COMBINED IMMUNODEFICIENCY OMIM:615966 HPO:skoehler 26.11.2014
+OMIM:615966 #615966 IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES; IMD26 HP:0012444 Brain atrophy IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > BRAIN ATROPHY (1 PATIENT) OMIM:615966 HPO:skoehler 26.11.2014
+OMIM:615966 #615966 IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES; IMD26 HP:0001320 Cerebellar vermis hypoplasia IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR VERMIS HYPOPLASIA (1 PATIENT) OMIM:615966 HPO:skoehler 26.11.2014
+OMIM:615966 #615966 IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES; IMD26 HP:0003429 CNS hypomyelination IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPOMYELINATION (1 PATIENT) OMIM:615966 HPO:skoehler 26.11.2014
+OMIM:615966 #615966 IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES; IMD26 HP:0001302 Pachygyria IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PACHYGYRIA (1 PATIENT) OMIM:615966 HPO:skoehler 26.11.2014
+OMIM:615966 #615966 IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES; IMD26 HP:0001250 Seizures IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES (1 PATIENT) OMIM:615966 HPO:skoehler 26.11.2014
+OMIM:615966 #615966 IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES; IMD26 HP:0009879 Cortical gyral simplification IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SIMPLIFIED GYRAL PATTERN (1 PATIENT) OMIM:615966 HPO:skoehler 26.11.2014
+OMIM:615966 #615966 IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES; IMD26 HP:0002079 Hypoplasia of the corpus callosum IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > THIN CORPUS CALLOSUM (1 PATIENT) OMIM:615966 HPO:skoehler 26.11.2014
+OMIM:615966 #615966 IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES; IMD26 HP:0002783 Recurrent lower respiratory tract infections IEA IEA MODIFIER:RECURRENT;OMIM-CS:RESPIRATORY > LOWER RESPIRATORY TRACT INFECTIONS, RECURRENT OMIM:615966 HPO:skoehler 26.11.2014
+OMIM:615966 #615966 IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES; IMD26 HP:0010557 Overlapping fingers IEA IEA rare OMIM-CS:SKELETAL_HANDS > OVERLAPPING FINGERS (1 PATIENT) OMIM:615966 HPO:skoehler 26.11.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615966.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615973.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615973.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615973.tab 2014-11-26 16:32:44 UTC (rev 5228)
@@ -0,0 +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:615973 #615973 CONE-ROD DYSTROPHY 20; CORD20 HP:0000639 Nystagmus IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > NYSTAGMUS (IN SOME PATIENTS) OMIM:615973 HPO:skoehler 26.11.2014
+OMIM:615973 #615973 CONE-ROD DYSTROPHY 20; CORD20 HP:0000505 Visual impairment IEA IEA OMIM-CS:HEAD AND NECK_EYES > REDUCED VISUAL ACUITY OMIM:615973 HPO:skoehler 26.11.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615973.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615981.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615981.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615981.tab 2014-11-26 16:32:44 UTC (rev 5228)
@@ -0,0 +1,13 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:615981 #615981 BARDET-BIEDL SYNDROME 2; BBS2 HP:0001631 Defect in the atrial septum IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > ATRIAL SEPTAL DEFECT (IN SOME PATIENTS) OMIM:615981 HPO:skoehler 26.11.2014
+OMIM:615981 #615981 BARDET-BIEDL SYNDROME 2; BBS2 HP:0001647 Bicuspid aortic valve IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > BICUSPID AORTIC VALVE (IN SOME PATIENTS) OMIM:615981 HPO:skoehler 26.11.2014
+OMIM:615981 #615981 BARDET-BIEDL SYNDROME 2; BBS2 HP:0001644 Dilated cardiomyopathy IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > DILATED CARDIOMYOPATHY (IN SOME PATIENTS) OMIM:615981 HPO:skoehler 26.11.2014
+OMIM:615981 #615981 BARDET-BIEDL SYNDROME 2; BBS2 HP:0003241 External genital hypoplasia IEA IEA OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > HYPOGENITALISM OMIM:615981 HPO:skoehler 26.11.2014
+OMIM:615981 #615981 BARDET-BIEDL SYNDROME 2; BBS2 HP:0000135 Hypogonadism IEA IEA OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > HYPOGONADISM OMIM:615981 HPO:skoehler 26.11.2014
+OMIM:615981 #615981 BARDET-BIEDL SYNDROME 2; BBS2 HP:0001513 Obesity IEA IEA OMIM-CS:GROWTH_WEIGHT > OBESITY OMIM:615981 HPO:skoehler 26.11.2014
+OMIM:615981 #615981 BARDET-BIEDL SYNDROME 2; BBS2 HP:0000546 Retinal degeneration IEA IEA OMIM-CS:HEAD AND NECK_EYES > RETINAL DEGENERATION OMIM:615981 HPO:skoehler 26.11.2014
+OMIM:615981 #615981 BARDET-BIEDL SYNDROME 2; BBS2 HP:0000510 Retinitis pigmentosa IEA IEA OMIM-CS:HEAD AND NECK_EYES > RETINITIS PIGMENTOSA OMIM:615981 HPO:skoehler 26.11.2014
+OMIM:615981 #615981 BARDET-BIEDL SYNDROME 2; BBS2 HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DEVELOPMENTAL DELAY OMIM:615981 HPO:skoehler 26.11.2014
+OMIM:615981 #615981 BARDET-BIEDL SYNDROME 2; BBS2 HP:0001249 Intellectual disability IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION OMIM:615981 HPO:skoehler 26.11.2014
+OMIM:615981 #615981 BARDET-BIEDL SYNDROME 2; BBS2 HP:0001162 Postaxial hand polydactyly IEA IEA OMIM-CS:SKELETAL_FEET > POLYDACTYLY, POSTAXIAL OMIM:615981 HPO:skoehler 26.11.2014
+OMIM:615981 #615981 BARDET-BIEDL SYNDROME 2; BBS2 HP:0001162 Postaxial hand polydactyly IEA IEA OMIM-CS:SKELETAL_HANDS > POLYDACTYLY, POSTAXIAL OMIM:615981 HPO:skoehler 26.11.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615981.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615982.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615982.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615982.tab 2014-11-26 16:32:44 UTC (rev 5228)
@@ -0,0 +1,16 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:615982 #615982 BARDET-BIEDL SYNDROME 4; BBS4 HP:0000028 Cryptorchidism IEA IEA OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > CRYPTORCHIDISM OMIM:615982 HPO:skoehler 26.11.2014
+OMIM:615982 #615982 BARDET-BIEDL SYNDROME 4; BBS4 HP:0003241 External genital hypoplasia IEA IEA OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > HYPOGENITALISM OMIM:615982 HPO:skoehler 26.11.2014
+OMIM:615982 #615982 BARDET-BIEDL SYNDROME 4; BBS4 HP:0000135 Hypogonadism IEA IEA OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > HYPOGONADISM OMIM:615982 HPO:skoehler 26.11.2014
+OMIM:615982 #615982 BARDET-BIEDL SYNDROME 4; BBS4 HP:0000077 Abnormality of the kidney IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > RENAL ANOMALIES OMIM:615982 HPO:skoehler 26.11.2014
+OMIM:615982 #615982 BARDET-BIEDL SYNDROME 4; BBS4 HP:0000107 Renal cyst IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > RENAL CYSTS OMIM:615982 HPO:skoehler 26.11.2014
+OMIM:615982 #615982 BARDET-BIEDL SYNDROME 4; BBS4 HP:0001513 Obesity IEA IEA OMIM-CS:GROWTH_WEIGHT > OBESITY OMIM:615982 HPO:skoehler 26.11.2014
+OMIM:615982 #615982 BARDET-BIEDL SYNDROME 4; BBS4 HP:0000662 Night blindness IEA IEA OMIM-CS:HEAD AND NECK_EYES > NIGHT BLINDNESS OMIM:615982 HPO:skoehler 26.11.2014
+OMIM:615982 #615982 BARDET-BIEDL SYNDROME 4; BBS4 HP:0000546 Retinal degeneration IEA IEA OMIM-CS:HEAD AND NECK_EYES > RETINAL DEGENERATION OMIM:615982 HPO:skoehler 26.11.2014
+OMIM:615982 #615982 BARDET-BIEDL SYNDROME 4; BBS4 HP:0000510 Retinitis pigmentosa IEA IEA OMIM-CS:HEAD AND NECK_EYES > RETINITIS PIGMENTOSA OMIM:615982 HPO:skoehler 26.11.2014
+OMIM:615982 #615982 BARDET-BIEDL SYNDROME 4; BBS4 HP:0000164 Abnormality of the teeth IEA IEA rare OMIM-CS:HEAD AND NECK_TEETH > DENTAL ABNORMALITIES (IN SOME PATIENTS) OMIM:615982 HPO:skoehler 26.11.2014
+OMIM:615982 #615982 BARDET-BIEDL SYNDROME 4; BBS4 HP:0001249 Intellectual disability IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION (IN SOME PATIENTS) OMIM:615982 HPO:skoehler 26.11.2014
+OMIM:615982 #615982 BARDET-BIEDL SYNDROME 4; BBS4 HP:0010442 Polydactyly IEA IEA OMIM-CS:SKELETAL_FEET > POLYDACTYLY OMIM:615982 HPO:skoehler 26.11.2014
+OMIM:615982 #615982 BARDET-BIEDL SYNDROME 4; BBS4 HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY OMIM:615982 HPO:skoehler 26.11.2014
+OMIM:615982 #615982 BARDET-BIEDL SYNDROME 4; BBS4 HP:0010442 Polydactyly IEA IEA OMIM-CS:SKELETAL_HANDS > POLYDACTYLY OMIM:615982 HPO:skoehler 26.11.2014
+OMIM:615982 #615982 BARDET-BIEDL SYNDROME 4; BBS4 HP:0001159 Syndactyly IEA IEA OMIM-CS:SKELETAL_HANDS > SYNDACTYLY OMIM:615982 HPO:skoehler 26.11.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615982.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615983.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615983.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615983.tab 2014-11-26 16:32:44 UTC (rev 5228)
@@ -0,0 +1,10 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:615983 #615983 BARDET-BIEDL SYNDROME 5; BBS5 HP:0003241 External genital hypoplasia IEA IEA OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > HYPOGENITALISM OMIM:615983 HPO:skoehler 26.11.2014
+OMIM:615983 #615983 BARDET-BIEDL SYNDROME 5; BBS5 HP:0000135 Hypogonadism IEA IEA OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > HYPOGONADISM OMIM:615983 HPO:skoehler 26.11.2014
+OMIM:615983 #615983 BARDET-BIEDL SYNDROME 5; BBS5 HP:0001513 Obesity IEA IEA OMIM-CS:GROWTH_WEIGHT > OBESITY OMIM:615983 HPO:skoehler 26.11.2014
+OMIM:615983 #615983 BARDET-BIEDL SYNDROME 5; BBS5 HP:0007754 Macular dystrophy IEA IEA OMIM-CS:HEAD AND NECK_EYES > MACULAR DYSTROPHY OMIM:615983 HPO:skoehler 26.11.2014
+OMIM:615983 #615983 BARDET-BIEDL SYNDROME 5; BBS5 HP:0000510 Retinitis pigmentosa IEA IEA OMIM-CS:HEAD AND NECK_EYES > RETINITIS PIGMENTOSA OMIM:615983 HPO:skoehler 26.11.2014
+OMIM:615983 #615983 BARDET-BIEDL SYNDROME 5; BBS5 HP:0100543 Cognitive impairment IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > COGNITIVE IMPAIRMENT OMIM:615983 HPO:skoehler 26.11.2014
+OMIM:615983 #615983 BARDET-BIEDL SYNDROME 5; BBS5 HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY OMIM:615983 HPO:skoehler 26.11.2014
+OMIM:615983 #615983 BARDET-BIEDL SYNDROME 5; BBS5 HP:0010442 Polydactyly IEA IEA rare OMIM-CS:SKELETAL_HANDS > POLYDACTYLY (IN SOME PATIENTS) OMIM:615983 HPO:skoehler 26.11.2014
+OMIM:615983 #615983 BARDET-BIEDL SYNDROME 5; BBS5 HP:0001159 Syndactyly IEA IEA OMIM-CS:SKELETAL_HANDS > SYNDACTYLY OMIM:615983 HPO:skoehler 26.11.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615983.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615984.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615984.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615984.tab 2014-11-26 16:32:44 UTC (rev 5228)
@@ -0,0 +1,7 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:615984 #615984 BARDET-BIEDL SYNDROME 7; BBS7 HP:0003241 External genital hypoplasia IEA IEA OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > HYPOGENITALISM OMIM:615984 HPO:skoehler 26.11.2014
+OMIM:615984 #615984 BARDET-BIEDL SYNDROME 7; BBS7 HP:0001513 Obesity IEA IEA OMIM-CS:GROWTH_WEIGHT > OBESITY OMIM:615984 HPO:skoehler 26.11.2014
+OMIM:615984 #615984 BARDET-BIEDL SYNDROME 7; BBS7 HP:0000510 Retinitis pigmentosa IEA IEA OMIM-CS:HEAD AND NECK_EYES > RETINITIS PIGMENTOSA OMIM:615984 HPO:skoehler 26.11.2014
+OMIM:615984 #615984 BARDET-BIEDL SYNDROME 7; BBS7 HP:0001249 Intellectual disability IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION OMIM:615984 HPO:skoehler 26.11.2014
+OMIM:615984 #615984 BARDET-BIEDL SYNDROME 7; BBS7 HP:0010442 Polydactyly IEA IEA OMIM-CS:SKELETAL_FEET > POLYDACTYLY OMIM:615984 HPO:skoehler 26.11.2014
+OMIM:615984 #615984 BARDET-BIEDL SYNDROME 7; BBS7 HP:0010442 Polydactyly IEA IEA OMIM-CS:SKELETAL_HANDS > POLYDACTYLY OMIM:615984 HPO:skoehler 26.11.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615984.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615985.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615985.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615985.tab 2014-11-26 16:32:44 UTC (rev 5228)
@@ -0,0 +1,13 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:615985 #615985 BARDET-BIEDL SYNDROME 8; BBS8 HP:0001696 Situs inversus totalis IEA IEA rare OMIM-CS:ABDOMEN > SITUS INVERSUS (IN SOME PATIENTS) OMIM:615985 HPO:skoehler 26.11.2014
+OMIM:615985 #615985 BARDET-BIEDL SYNDROME 8; BBS8 HP:0000135 Hypogonadism IEA IEA OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > HYPOGONADISM OMIM:615985 HPO:skoehler 26.11.2014
+OMIM:615985 #615985 BARDET-BIEDL SYNDROME 8; BBS8 HP:0000047 Hypospadias IEA IEA OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > HYPOSPADIAS OMIM:615985 HPO:skoehler 26.11.2014
+OMIM:615985 #615985 BARDET-BIEDL SYNDROME 8; BBS8 HP:0000110 Renal dysplasia IEA IEA rare OMIM-CS:GENITOURINARY_KIDNEYS > RENAL DYSPLASIA (IN SOME PATIENTS) OMIM:615985 HPO:skoehler 26.11.2014
+OMIM:615985 #615985 BARDET-BIEDL SYNDROME 8; BBS8 HP:0001513 Obesity IEA IEA OMIM-CS:GROWTH_WEIGHT > OBESITY OMIM:615985 HPO:skoehler 26.11.2014
+OMIM:615985 #615985 BARDET-BIEDL SYNDROME 8; BBS8 HP:0000510 Retinitis pigmentosa IEA IEA OMIM-CS:HEAD AND NECK_EYES > RETINITIS PIGMENTOSA OMIM:615985 HPO:skoehler 26.11.2014
+OMIM:615985 #615985 BARDET-BIEDL SYNDROME 8; BBS8 HP:0000248 Brachycephaly IEA IEA OMIM-CS:HEAD AND NECK_HEAD > BRACHYCEPHALY OMIM:615985 HPO:skoehler 26.11.2014
+OMIM:615985 #615985 BARDET-BIEDL SYNDROME 8; BBS8 HP:0100543 Cognitive impairment IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > COGNITIVE IMPAIRMENT OMIM:615985 HPO:skoehler 26.11.2014
+OMIM:615985 #615985 BARDET-BIEDL SYNDROME 8; BBS8 HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED DEVELOPMENT OMIM:615985 HPO:skoehler 26.11.2014
+OMIM:615985 #615985 BARDET-BIEDL SYNDROME 8; BBS8 HP:0001249 Intellectual disability IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION OMIM:615985 HPO:skoehler 26.11.2014
+OMIM:615985 #615985 BARDET-BIEDL SYNDROME 8; BBS8 HP:0010442 Polydactyly IEA IEA OMIM-CS:SKELETAL_FEET > POLYDACTYLY OMIM:615985 HPO:skoehler 26.11.2014
+OMIM:615985 #615985 BARDET-BIEDL SYNDROME 8; BBS8 HP:0010442 Polydactyly IEA IEA OMIM-CS:SKELETAL_HANDS > POLYDACTYLY OMIM:615985 HPO:skoehler 26.11.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615985.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615986.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615986.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615986.tab 2014-11-26 16:32:44 UTC (rev 5228)
@@ -0,0 +1,6 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:615986 #615986 BARDET-BIEDL SYNDROME 9; BBS9 HP:0001513 Obesity IEA IEA OMIM-CS:GROWTH_WEIGHT > OBESITY OMIM:615986 HPO:skoehler 26.11.2014
+OMIM:615986 #615986 BARDET-BIEDL SYNDROME 9; BBS9 HP:0000510 Retinitis pigmentosa IEA IEA OMIM-CS:HEAD AND NECK_EYES > RETINITIS PIGMENTOSA OMIM:615986 HPO:skoehler 26.11.2014
+OMIM:615986 #615986 BARDET-BIEDL SYNDROME 9; BBS9 HP:0001249 Intellectual disability IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION OMIM:615986 HPO:skoehler 26.11.2014
+OMIM:615986 #615986 BARDET-BIEDL SYNDROME 9; BBS9 HP:0010442 Polydactyly IEA IEA OMIM-CS:SKELETAL_FEET > POLYDACTYLY OMIM:615986 HPO:skoehler 26.11.2014
+OMIM:615986 #615986 BARDET-BIEDL SYNDROME 9; BBS9 HP:0010442 Polydactyly IEA IEA OMIM-CS:SKELETAL_HANDS > POLYDACTYLY OMIM:615986 HPO:skoehler 26.11.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615986.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615987.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615987.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615987.tab 2014-11-26 16:32:44 UTC (rev 5228)
@@ -0,0 +1,10 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:615987 #615987 BARDET-BIEDL SYNDROME 10; BBS10 HP:0000135 Hypogonadism IEA IEA OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > HYPOGONADISM OMIM:615987 HPO:skoehler 26.11.2014
+OMIM:615987 #615987 BARDET-BIEDL SYNDROME 10; BBS10 HP:0000077 Abnormality of the kidney IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > RENAL ANOMALIES OMIM:615987 HPO:skoehler 26.11.2014
+OMIM:615987 #615987 BARDET-BIEDL SYNDROME 10; BBS10 HP:0000083 Renal insufficiency IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > RENAL FAILURE OMIM:615987 HPO:skoehler 26.11.2014
+OMIM:615987 #615987 BARDET-BIEDL SYNDROME 10; BBS10 HP:0001513 Obesity IEA IEA OMIM-CS:GROWTH_WEIGHT > OBESITY OMIM:615987 HPO:skoehler 26.11.2014
+OMIM:615987 #615987 BARDET-BIEDL SYNDROME 10; BBS10 HP:0000556 Retinal dystrophy IEA IEA OMIM-CS:HEAD AND NECK_EYES > RETINAL DYSTROPHY OMIM:615987 HPO:skoehler 26.11.2014
+OMIM:615987 #615987 BARDET-BIEDL SYNDROME 10; BBS10 HP:0000510 Retinitis pigmentosa IEA IEA OMIM-CS:HEAD AND NECK_EYES > RETINITIS PIGMENTOSA OMIM:615987 HPO:skoehler 26.11.2014
+OMIM:615987 #615987 BARDET-BIEDL SYNDROME 10; BBS10 HP:0100543 Cognitive impairment IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > COGNITIVE IMPAIRMENT OMIM:615987 HPO:skoehler 26.11.2014
+OMIM:615987 #615987 BARDET-BIEDL SYNDROME 10; BBS10 HP:0010442 Polydactyly IEA IEA OMIM-CS:SKELETAL_FEET > POLYDACTYLY OMIM:615987 HPO:skoehler 26.11.2014
+OMIM:615987 #615987 BARDET-BIEDL SYNDROME 10; BBS10 HP:0010442 Polydactyly IEA IEA OMIM-CS:SKELETAL_HANDS > POLYDACTYLY OMIM:615987 HPO:skoehler 26.11.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615987.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615988.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615988.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615988.tab 2014-11-26 16:32:44 UTC (rev 5228)
@@ -0,0 +1,7 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:615988 #615988 BARDET-BIEDL SYNDROME 11; BBS11 HP:0000135 Hypogonadism IEA IEA OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > HYPOGONADISM OMIM:615988 HPO:skoehler 26.11.2014
+OMIM:615988 #615988 BARDET-BIEDL SYNDROME 11; BBS11 HP:0000077 Abnormality of the kidney IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > RENAL ANOMALIES OMIM:615988 HPO:skoehler 26.11.2014
+OMIM:615988 #615988 BARDET-BIEDL SYNDROME 11; BBS11 HP:0001513 Obesity IEA IEA OMIM-CS:GROWTH_WEIGHT > OBESITY OMIM:615988 HPO:skoehler 26.11.2014
+OMIM:615988 #615988 BARDET-BIEDL SYNDROME 11; BBS11 HP:0000488 Retinopathy IEA IEA OMIM-CS:HEAD AND NECK_EYES > RETINOPATHY OMIM:615988 HPO:skoehler 26.11.2014
+OMIM:615988 #615988 BARDET-BIEDL SYNDROME 11; BBS11 HP:0010442 Polydactyly IEA IEA OMIM-CS:SKELETAL_FEET > POLYDACTYLY OMIM:615988 HPO:skoehler 26.11.2014
+OMIM:615988 #615988 BARDET-BIEDL SYNDROME 11; BBS11 HP:0010442 Polydactyly IEA IEA OMIM-CS:SKELETAL_HANDS > POLYDACTYLY OMIM:615988 HPO:skoehler 26.11.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615988.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615989.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615989.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615989.tab 2014-11-26 16:32:44 UTC (rev 5228)
@@ -0,0 +1,8 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:615989 #615989 BARDET-BIEDL SYNDROME 12; BBS12 HP:0000135 Hypogonadism IEA IEA OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > HYPOGONADISM OMIM:615989 HPO:skoehler 26.11.2014
+OMIM:615989 #615989 BARDET-BIEDL SYNDROME 12; BBS12 HP:0000077 Abnormality of the kidney IEA IEA rare OMIM-CS:GENITOURINARY_KIDNEYS > RENAL ANOMALIES (IN SOME PATIENTS) OMIM:615989 HPO:skoehler 26.11.2014
+OMIM:615989 #615989 BARDET-BIEDL SYNDROME 12; BBS12 HP:0001513 Obesity IEA IEA OMIM-CS:GROWTH_WEIGHT > OBESITY OMIM:615989 HPO:skoehler 26.11.2014
+OMIM:615989 #615989 BARDET-BIEDL SYNDROME 12; BBS12 HP:0000510 Retinitis pigmentosa IEA IEA OMIM-CS:HEAD AND NECK_EYES > RETINITIS PIGMENTOSA OMIM:615989 HPO:skoehler 26.11.2014
+OMIM:615989 #615989 BARDET-BIEDL SYNDROME 12; BBS12 HP:0100543 Cognitive impairment IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > COGNITIVE IMPAIRMENT OMIM:615989 HPO:skoehler 26.11.2014
+OMIM:615989 #615989 BARDET-BIEDL SYNDROME 12; BBS12 HP:0010442 Polydactyly IEA IEA OMIM-CS:SKELETAL_FEET > POLYDACTYLY OMIM:615989 HPO:skoehler 26.11.2014
+OMIM:615989 #615989 BARDET-BIEDL SYNDROME 12; BBS12 HP:0010442 Polydactyly IEA IEA OMIM-CS:SKELETAL_HANDS > POLYDACTYLY OMIM:615989 HPO:skoehler 26.11.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615989.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615990.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615990.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615990.tab 2014-11-26 16:32:44 UTC (rev 5228)
@@ -0,0 +1,7 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:615990 #615990 BARDET-BIEDL SYNDROME 13; BBS13 HP:0001513 Obesity IEA IEA OMIM-CS:GROWTH_WEIGHT > OBESITY OMIM:615990 HPO:skoehler 26.11.2014
+OMIM:615990 #615990 BARDET-BIEDL SYNDROME 13; BBS13 HP:0000510 Retinitis pigmentosa IEA IEA OMIM-CS:HEAD AND NECK_EYES > RETINITIS PIGMENTOSA OMIM:615990 HPO:skoehler 26.11.2014
+OMIM:615990 #615990 BARDET-BIEDL SYNDROME 13; BBS13 HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED DEVELOPMENT OMIM:615990 HPO:skoehler 26.11.2014
+OMIM:615990 #615990 BARDET-BIEDL SYNDROME 13; BBS13 HP:0001249 Intellectual disability IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION OMIM:615990 HPO:skoehler 26.11.2014
+OMIM:615990 #615990 BARDET-BIEDL SYNDROME 13; BBS13 HP:0010442 Polydactyly IEA IEA OMIM-CS:SKELETAL_FEET > POLYDACTYLY OMIM:615990 HPO:skoehler 26.11.2014
+OMIM:615990 #615990 BARDET-BIEDL SYNDROME 13; BBS13 HP:0010442 Polydactyly IEA IEA OMIM-CS:SKELETAL_HANDS > POLYDACTYLY OMIM:615990 HPO:skoehler 26.11.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615990.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615991.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615991.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615991.tab 2014-11-26 16:32:44 UTC (rev 5228)
@@ -0,0 +1,5 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:615991 #615991 BARDET-BIEDL SYNDROME 14; BBS14 HP:0001513 Obesity IEA IEA OMIM-CS:GROWTH_WEIGHT > OBESITY OMIM:615991 HPO:skoehler 26.11.2014
+OMIM:615991 #615991 BARDET-BIEDL SYNDROME 14; BBS14 HP:0000510 Retinitis pigmentosa IEA IEA OMIM-CS:HEAD AND NECK_EYES > RETINITIS PIGMENTOSA OMIM:615991 HPO:skoehler 26.11.2014
+OMIM:615991 #615991 BARDET-BIEDL SYNDROME 14; BBS14 HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DEVELOPMENTAL DELAY OMIM:615991 HPO:skoehler 26.11.2014
+OMIM:615991 #615991 BARDET-BIEDL SYNDROME 14; BBS14 HP:0001249 Intellectual disability IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION OMIM:615991 HPO:skoehler 26.11.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615991.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615993.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615993.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615993.tab 2014-11-26 16:32:44 UTC (rev 5228)
@@ -0,0 +1,19 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:615993 #615993 BARDET-BIEDL SYNDROME 16; BBS16 HP:0003241 External genital hypoplasia IEA IEA OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > HYPOGENITALISM OMIM:615993 HPO:skoehler 26.11.2014
+OMIM:615993 #615993 BARDET-BIEDL SYNDROME 16; BBS16 HP:0000135 Hypogonadism IEA IEA OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > HYPOGONADISM OMIM:615993 HPO:skoehler 26.11.2014
+OMIM:615993 #615993 BARDET-BIEDL SYNDROME 16; BBS16 HP:0000110 Renal dysplasia IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > DYSPLASTIC KIDNEYS OMIM:615993 HPO:skoehler 26.11.2014
+OMIM:615993 #615993 BARDET-BIEDL SYNDROME 16; BBS16 HP:0000104 Renal agenesis IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > RENAL AGENESIS OMIM:615993 HPO:skoehler 26.11.2014
+OMIM:615993 #615993 BARDET-BIEDL SYNDROME 16; BBS16 HP:0000077 Abnormality of the kidney IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > RENAL ANOMALIES OMIM:615993 HPO:skoehler 26.11.2014
+OMIM:615993 #615993 BARDET-BIEDL SYNDROME 16; BBS16 HP:0000107 Renal cyst IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > RENAL CYSTS OMIM:615993 HPO:skoehler 26.11.2014
+OMIM:615993 #615993 BARDET-BIEDL SYNDROME 16; BBS16 HP:0000083 Renal insufficiency IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > RENAL FAILURE OMIM:615993 HPO:skoehler 26.11.2014
+OMIM:615993 #615993 BARDET-BIEDL SYNDROME 16; BBS16 HP:0001513 Obesity IEA IEA OMIM-CS:GROWTH_WEIGHT > OBESITY OMIM:615993 HPO:skoehler 26.11.2014
+OMIM:615993 #615993 BARDET-BIEDL SYNDROME 16; BBS16 HP:0000403 Recurrent otitis media IEA IEA OMIM-CS:HEAD AND NECK_EARS > OTITIS MEDIA, RECURRENT OMIM:615993 HPO:skoehler 26.11.2014
+OMIM:615993 #615993 BARDET-BIEDL SYNDROME 16; BBS16 HP:0000546 Retinal degeneration IEA IEA OMIM-CS:HEAD AND NECK_EYES > RETINAL DEGENERATION OMIM:615993 HPO:skoehler 26.11.2014
+OMIM:615993 #615993 BARDET-BIEDL SYNDROME 16; BBS16 HP:0000510 Retinitis pigmentosa IEA IEA OMIM-CS:HEAD AND NECK_EYES > RETINITIS PIGMENTOSA OMIM:615993 HPO:skoehler 26.11.2014
+OMIM:615993 #615993 BARDET-BIEDL SYNDROME 16; BBS16 HP:0100543 Cognitive impairment IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > COGNITIVE IMPAIRMENT OMIM:615993 HPO:skoehler 26.11.2014
+OMIM:615993 #615993 BARDET-BIEDL SYNDROME 16; BBS16 HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DEVELOPMENTAL DELAY OMIM:615993 HPO:skoehler 26.11.2014
+OMIM:615993 #615993 BARDET-BIEDL SYNDROME 16; BBS16 HP:0001249 Intellectual disability IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION OMIM:615993 HPO:skoehler 26.11.2014
+OMIM:615993 #615993 BARDET-BIEDL SYNDROME 16; BBS16 HP:0011950 Bronchiolitis IEA IEA OMIM-CS:RESPIRATORY > BRONCHIOLITIS OMIM:615993 HPO:skoehler 26.11.2014
+OMIM:615993 #615993 BARDET-BIEDL SYNDROME 16; BBS16 HP:0002098 Respiratory distress IEA IEA OMIM-CS:RESPIRATORY > RESPIRATORY DISTRESS OMIM:615993 HPO:skoehler 26.11.2014
+OMIM:615993 #615993 BARDET-BIEDL SYNDROME 16; BBS16 HP:0002205 Recurrent respiratory infections IEA IEA MODIFIER:CHRONIC;OMIM-CS:RESPIRATORY > RESPIRATORY INFECTIONS, RECURRENT, CHRONIC OMIM:615993 HPO:skoehler 26.11.2014
+OMIM:615993 #615993 BARDET-BIEDL SYNDROME 16; BBS16 HP:0010442 Polydactyly IEA IEA NOT NOT OMIM-CS:SKELETAL_HANDS > NO POLYDACTYLY OMIM:615993 HPO:skoehler 26.11.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615993.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615994.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615994.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615994.tab 2014-11-26 16:32:44 UTC (rev 5228)
@@ -0,0 +1,16 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:615994 #615994 BARDET-BIEDL SYNDROME 17; BBS17 HP:0001696 Situs inversus totalis IEA IEA rare OMIM-CS:ABDOMEN > SITUS INVERSUS (IN SOME PATIENTS) OMIM:615994 HPO:skoehler 26.11.2014
+OMIM:615994 #615994 BARDET-BIEDL SYNDROME 17; BBS17 HP:0001651 Dextrocardia IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > DEXTROCARDIA (IN SOME PATIENTS) OMIM:615994 HPO:skoehler 26.11.2014
+OMIM:615994 #615994 BARDET-BIEDL SYNDROME 17; BBS17 HP:0003241 External genital hypoplasia IEA IEA OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > HYPOGENITALISM OMIM:615994 HPO:skoehler 26.11.2014
+OMIM:615994 #615994 BARDET-BIEDL SYNDROME 17; BBS17 HP:0000135 Hypogonadism IEA IEA OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > HYPOGONADISM OMIM:615994 HPO:skoehler 26.11.2014
+OMIM:615994 #615994 BARDET-BIEDL SYNDROME 17; BBS17 HP:0003774 Stage 5 chronic kidney disease IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > CHRONIC RENAL FAILURE OMIM:615994 HPO:skoehler 26.11.2014
+OMIM:615994 #615994 BARDET-BIEDL SYNDROME 17; BBS17 HP:0000107 Renal cyst IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > CYSTIC KIDNEYS OMIM:615994 HPO:skoehler 26.11.2014
+OMIM:615994 #615994 BARDET-BIEDL SYNDROME 17; BBS17 HP:0001513 Obesity IEA IEA OMIM-CS:GROWTH_WEIGHT > OBESITY OMIM:615994 HPO:skoehler 26.11.2014
+OMIM:615994 #615994 BARDET-BIEDL SYNDROME 17; BBS17 HP:0000548 Cone-rod dystrophy IEA IEA OMIM-CS:HEAD AND NECK_EYES > CONE-ROD DYSTROPHY OMIM:615994 HPO:skoehler 26.11.2014
+OMIM:615994 #615994 BARDET-BIEDL SYNDROME 17; BBS17 HP:0000546 Retinal degeneration IEA IEA OMIM-CS:HEAD AND NECK_EYES > RETINAL DEGENERATION OMIM:615994 HPO:skoehler 26.11.2014
+OMIM:615994 #615994 BARDET-BIEDL SYNDROME 17; BBS17 HP:0100543 Cognitive impairment IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > COGNITIVE IMPAIRMENT OMIM:615994 HPO:skoehler 26.11.2014
+OMIM:615994 #615994 BARDET-BIEDL SYNDROME 17; BBS17 HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED DEVELOPMENT OMIM:615994 HPO:skoehler 26.11.2014
+OMIM:615994 #615994 BARDET-BIEDL SYNDROME 17; BBS17 HP:0010442 Polydactyly IEA IEA OMIM-CS:SKELETAL_FEET > PO...
[truncated message content] |
|
From: <pr...@us...> - 2014-11-15 10:23:15
|
Revision: 5227
http://sourceforge.net/p/obo/svn/5227
Author: probins
Date: 2014-11-15 10:23:12 +0000 (Sat, 15 Nov 2014)
Log Message:
-----------
Corrected two annotation files
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-159580.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-159700.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-159580.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-159580.tab 2014-11-14 16:16:40 UTC (rev 5226)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-159580.tab 2014-11-15 10:23:12 UTC (rev 5227)
@@ -1,5 +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:159580 MYELOPATHY, HTLV-1-ASSOCIATED HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:159580 HPO 17.02.2009
-OMIM:159580 MYELOPATHY, HTLV-1-ASSOCIATED HP:0002062 Abnormality of the pyramidal tracts IEA IEA OMIM:159580 HPO 17.02.2009
-OMIM:159580 MYELOPATHY, HTLV-1-ASSOCIATED HP:0002196 Myelopathy IEA IEA OMIM:159580 HPO 17.02.2009
-OMIM:159580 MYELOPATHY, HTLV-1-ASSOCIATED HP:0007191 Tropical spastic paraparesis IEA IEA OMIM:159580 HPO 17.02.2009
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:159580 MYELOPATHY, HTLV-1-ASSOCIATED HP:0002196 Myelopathy TAS TAS OMIM:159580 HPO:probinson Feb 17, 2009
+OMIM:159580 MYELOPATHY, HTLV-1-ASSOCIATED HP:0007256 Abnormality of pyramidal motor function TAS TAS OMIM:159580 HPO:probinson Nov 15, 2014
+OMIM:159580 MYELOPATHY, HTLV-1-ASSOCIATED HP:0002313 Spastic paraparesis TAS TAS OMIM:159580 HPO:probinson Nov 15, 2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-159700.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-159700.tab 2014-11-14 16:16:40 UTC (rev 5226)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-159700.tab 2014-11-15 10:23:12 UTC (rev 5227)
@@ -1,10 +1,10 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:159700 MYOCLONUS AND ATAXIA HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:159700 HPO 17.02.2009
-OMIM:159700 MYOCLONUS AND ATAXIA HP:0001250 Seizures IEA IEA OMIM:159700 HPO:skoehler 20.06.2010
-OMIM:159700 MYOCLONUS AND ATAXIA HP:0001251 Ataxia IEA IEA OMIM:159700 HPO 17.02.2009
-OMIM:159700 MYOCLONUS AND ATAXIA HP:0001336 Myoclonus IEA IEA OMIM:159700 HPO 17.02.2009
-OMIM:159700 MYOCLONUS AND ATAXIA HP:0001425 Heterogeneous IEA IEA OMIM:159700 HPO 17.02.2009
-OMIM:159700 MYOCLONUS AND ATAXIA HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:159700 HPO 17.02.2009
-OMIM:159700 MYOCLONUS AND ATAXIA HP:0002080 Intention tremor IEA IEA OMIM:159700 HPO 17.02.2009
-OMIM:159700 MYOCLONUS AND ATAXIA HP:0003200 Ragged-red muscle fibers IEA IEA OMIM:159700 HPO 17.02.2009
-OMIM:159700 159700 MYOCLONUS AND ATAXIA;;RAMSAY HUNT SYNDROME HP:0012103 Abnormality of the mitochondrion IEA IEA OMIM-CS:LAB > MITOCHONDRIAL ABNORMALITIES OMIM:159700 HPO:skoehler 13.06.2013
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:159700 MYOCLONUS AND ATAXIA HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:159700 HPO:probinson Feb 17, 2009
+OMIM:159700 MYOCLONUS AND ATAXIA HP:0002197 Generalized seizures TAS TAS Occasional OMIM:159700 HPO:skoehler Jun 20, 2010
+OMIM:159700 MYOCLONUS AND ATAXIA HP:0001251 Ataxia TAS TAS OMIM:159700 HPO:probinson Feb 17, 2009
+OMIM:159700 MYOCLONUS AND ATAXIA HP:0001336 Myoclonus TAS TAS OMIM:159700 HPO:probinson Feb 17, 2009
+OMIM:159700 MYOCLONUS AND ATAXIA HP:0002080 Intention tremor TAS TAS OMIM:159700 HPO:probinson Feb 17, 2009
+OMIM:159700 MYOCLONUS AND ATAXIA HP:0003200 Ragged-red muscle fibers TAS TAS OMIM:159700 HPO:probinson Feb 17, 2009
+OMIM:159700 159700 MYOCLONUS AND ATAXIA;;RAMSAY HUNT SYNDROME HP:0012103 Abnormality of the mitochondrion TAS TAS OMIM-CS:LAB > MITOCHONDRIAL ABNORMALITIES OMIM:159700 HPO:skoehler Jun 13, 2013
+OMIM:159700 MYOCLONUS AND ATAXIA HP:0100321 Abnormality of the dentate nucleus TAS TAS OMIM:159700 HPO:probinson Nov 15, 2014
+OMIM:159700 MYOCLONUS AND ATAXIA HP:0007132 Pallidal degeneration TAS TAS OMIM:159700 HPO:probinson Nov 15, 2014
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <koe...@us...> - 2014-11-14 16:16:48
|
Revision: 5226
http://sourceforge.net/p/obo/svn/5226
Author: koehlers
Date: 2014-11-14 16:16:40 +0000 (Fri, 14 Nov 2014)
Log Message:
-----------
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/misc/jarFiles/generateAnnotationFile.jar
Modified: phenotype-commons/annotations/OMIM/by-disease/misc/jarFiles/generateAnnotationFile.jar
===================================================================
(Binary files differ)
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <koe...@us...> - 2014-11-14 15:59:28
|
Revision: 5225
http://sourceforge.net/p/obo/svn/5225
Author: koehlers
Date: 2014-11-14 15:59:19 +0000 (Fri, 14 Nov 2014)
Log Message:
-----------
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/misc/jarFiles/generateAnnotationFile.jar
Modified: phenotype-commons/annotations/OMIM/by-disease/misc/jarFiles/generateAnnotationFile.jar
===================================================================
(Binary files differ)
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <cmu...@us...> - 2014-11-02 21:38:30
|
Revision: 5224
http://sourceforge.net/p/obo/svn/5224
Author: cmungall
Date: 2014-11-02 21:38:22 +0000 (Sun, 02 Nov 2014)
Log Message:
-----------
new-release
Added Paths:
-----------
uberon/releases/2014-11-01/
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <cmu...@us...> - 2014-11-02 21:31:36
|
Revision: 5223
http://sourceforge.net/p/obo/svn/5223
Author: cmungall
Date: 2014-11-02 21:31:31 +0000 (Sun, 02 Nov 2014)
Log Message:
-----------
Allens
Added Paths:
-----------
uberon/trunk/bridge/uberon-bridge-to-dhba.obo
uberon/trunk/bridge/uberon-bridge-to-dhba.owl
uberon/trunk/bridge/uberon-bridge-to-dmba.obo
uberon/trunk/bridge/uberon-bridge-to-dmba.owl
uberon/trunk/bridge/uberon-bridge-to-hba.obo
uberon/trunk/bridge/uberon-bridge-to-hba.owl
uberon/trunk/bridge/uberon-bridge-to-pba.obo
uberon/trunk/bridge/uberon-bridge-to-pba.owl
Added: uberon/trunk/bridge/uberon-bridge-to-dhba.obo
===================================================================
--- uberon/trunk/bridge/uberon-bridge-to-dhba.obo (rev 0)
+++ uberon/trunk/bridge/uberon-bridge-to-dhba.obo 2014-11-02 21:31:31 UTC (rev 5223)
@@ -0,0 +1,3699 @@
+ontology: uberon/bridge/uberon-bridge-to-dhba
+data-version: 2014-11-01
+property_value: seeAlso "http://purl.obolibrary.org/obo/uberon/references/reference_0000026" xsd:anyURI
+
+[Term]
+id: DHBA:Pit !
+property_value: IAO:0000589 "pituitary gland (DHBA)" xsd:string
+intersection_of: UBERON:0000007 ! pituitary gland
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:fx !
+property_value: IAO:0000589 "fornix of brain (DHBA)" xsd:string
+intersection_of: UBERON:0000052 ! fornix of brain
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:7N !
+property_value: IAO:0000589 "facial nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0000127 ! facial nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:tap !
+property_value: IAO:0000589 "tapetum of corpus callosum (DHBA)" xsd:string
+intersection_of: UBERON:0000373 ! tapetum of corpus callosum
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:EnP !
+property_value: IAO:0000589 "endopeduncular nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0000432 ! endopeduncular nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:LT !
+property_value: IAO:0000589 "lateral tuberal nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0000435 ! lateral tuberal nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:PFC !
+property_value: IAO:0000589 "prefrontal cortex (DHBA)" xsd:string
+intersection_of: UBERON:0000451 ! prefrontal cortex
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:hic !
+property_value: IAO:0000589 "hippocampal commissure (DHBA)" xsd:string
+intersection_of: UBERON:0000908 ! hippocampal commissure
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:ac !
+property_value: IAO:0000589 "anterior commissure (DHBA)" xsd:string
+intersection_of: UBERON:0000935 ! anterior commissure
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:poc !
+property_value: IAO:0000589 "posterior commissure (DHBA)" xsd:string
+intersection_of: UBERON:0000936 ! posterior commissure
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:on !
+property_value: IAO:0000589 "cranial nerve II (DHBA)" xsd:string
+intersection_of: UBERON:0000941 ! cranial nerve II
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:Br !
+property_value: IAO:0000589 "brain (DHBA)" xsd:string
+intersection_of: UBERON:0000955 ! brain
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:Cx !
+property_value: IAO:0000589 "cerebral cortex (DHBA)" xsd:string
+intersection_of: UBERON:0000956 ! cerebral cortex
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:ox !
+property_value: IAO:0000589 "optic chiasma (DHBA)" xsd:string
+intersection_of: UBERON:0000959 ! optic chiasma
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:Pn !
+property_value: IAO:0000589 "pons (DHBA)" xsd:string
+intersection_of: UBERON:0000988 ! pons
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:NT !
+property_value: IAO:0000589 "neural tube (DHBA)" xsd:string
+intersection_of: UBERON:0001049 ! neural tube
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:r7in !
+property_value: IAO:0000589 "sensory root of facial nerve (DHBA)" xsd:string
+intersection_of: UBERON:0001699 ! sensory root of facial nerve
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:3N !
+property_value: IAO:0000589 "oculomotor nuclear complex (DHBA)" xsd:string
+intersection_of: UBERON:0001715 ! oculomotor nuclear complex
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:Sp5 !
+property_value: IAO:0000589 "spinal nucleus of trigeminal nerve (DHBA)" xsd:string
+intersection_of: UBERON:0001717 ! spinal nucleus of trigeminal nerve
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:Me5 !
+property_value: IAO:0000589 "mesencephalic nucleus of trigeminal nerve (DHBA)" xsd:string
+intersection_of: UBERON:0001718 ! mesencephalic nucleus of trigeminal nerve
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:Amb !
+property_value: IAO:0000589 "nucleus ambiguus (DHBA)" xsd:string
+intersection_of: UBERON:0001719 ! nucleus ambiguus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:MVe !
+property_value: IAO:0000589 "medial vestibular nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0001722 ! medial vestibular nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:TemL !
+property_value: IAO:0000589 "temporal lobe (DHBA)" xsd:string
+intersection_of: UBERON:0001871 ! temporal lobe
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:ParL !
+property_value: IAO:0000589 "parietal lobe (DHBA)" xsd:string
+intersection_of: UBERON:0001872 ! parietal lobe
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:Ca !
+property_value: IAO:0000589 "caudate nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0001873 ! caudate nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:Pu !
+property_value: IAO:0000589 "putamen (DHBA)" xsd:string
+intersection_of: UBERON:0001874 ! putamen
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:GP !
+property_value: IAO:0000589 "globus pallidus (DHBA)" xsd:string
+intersection_of: UBERON:0001875 ! globus pallidus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:AMY !
+property_value: IAO:0000589 "amygdala (DHBA)" xsd:string
+intersection_of: UBERON:0001876 ! amygdala
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:MSN !
+property_value: IAO:0000589 "medial septal nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0001877 ! medial septal nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:SFi !
+property_value: IAO:0000589 "septofimbrial nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0001878 ! septofimbrial nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:NDB !
+property_value: IAO:0000589 "nucleus of diagonal band (DHBA)" xsd:string
+intersection_of: UBERON:0001879 ! nucleus of diagonal band
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:BNST !
+property_value: IAO:0000589 "bed nucleus of stria terminalis (DHBA)" xsd:string
+intersection_of: UBERON:0001880 ! bed nucleus of stria terminalis
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:IsCj !
+property_value: IAO:0000589 "island of Calleja (DHBA)" xsd:string
+intersection_of: UBERON:0001881 ! island of Calleja
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:NAC !
+property_value: IAO:0000589 "nucleus accumbens (DHBA)" xsd:string
+intersection_of: UBERON:0001882 ! nucleus accumbens
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:OT !
+property_value: IAO:0000589 "olfactory tubercle (DHBA)" xsd:string
+intersection_of: UBERON:0001883 ! olfactory tubercle
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:ic !
+property_value: IAO:0000589 "internal capsule of telencephalon (DHBA)" xsd:string
+intersection_of: UBERON:0001887 ! internal capsule of telencephalon
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:lost !
+property_value: IAO:0000589 "lateral olfactory tract (DHBA)" xsd:string
+intersection_of: UBERON:0001888 ! lateral olfactory tract
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:F !
+property_value: IAO:0000589 "forebrain (DHBA)" xsd:string
+intersection_of: UBERON:0001890 ! forebrain
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:M !
+property_value: IAO:0000589 "midbrain (DHBA)" xsd:string
+intersection_of: UBERON:0001891 ! midbrain
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:HNM !
+property_value: IAO:0000589 "rhombomere (DHBA)" xsd:string
+intersection_of: UBERON:0001892 ! rhombomere
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:Tel !
+property_value: IAO:0000589 "telencephalon (DHBA)" xsd:string
+intersection_of: UBERON:0001893 ! telencephalon
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:Die !
+property_value: IAO:0000589 "diencephalon (DHBA)" xsd:string
+intersection_of: UBERON:0001894 ! diencephalon
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:Met !
+property_value: IAO:0000589 "metencephalon (DHBA)" xsd:string
+intersection_of: UBERON:0001895 ! metencephalon
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:THM !
+property_value: IAO:0000589 "dorsal plus ventral thalamus (DHBA)" xsd:string
+intersection_of: UBERON:0001897 ! dorsal plus ventral thalamus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:HTH !
+property_value: IAO:0000589 "hypothalamus (DHBA)" xsd:string
+intersection_of: UBERON:0001898 ! hypothalamus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:ETH !
+property_value: IAO:0000589 "epithalamus (DHBA)" xsd:string
+intersection_of: UBERON:0001899 ! epithalamus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:VTH !
+property_value: IAO:0000589 "ventral thalamus (DHBA)" xsd:string
+intersection_of: UBERON:0001900 ! ventral thalamus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:R !
+property_value: IAO:0000589 "thalamic reticular nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0001903 ! thalamic reticular nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:HN !
+property_value: IAO:0000589 "habenula (DHBA)" xsd:string
+intersection_of: UBERON:0001904 ! habenula
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:Pin !
+property_value: IAO:0000589 "pineal body (DHBA)" xsd:string
+intersection_of: UBERON:0001905 ! pineal body
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:STH !
+property_value: IAO:0000589 "subthalamic nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0001906 ! subthalamic nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:ZI !
+property_value: IAO:0000589 "zona incerta (DHBA)" xsd:string
+intersection_of: UBERON:0001907 ! zona incerta
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:ot !
+property_value: IAO:0000589 "optic tract (DHBA)" xsd:string
+intersection_of: UBERON:0001908 ! optic tract
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:hac !
+property_value: IAO:0000589 "habenular commissure (DHBA)" xsd:string
+intersection_of: UBERON:0001909 ! habenular commissure
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:mfb !
+property_value: IAO:0000589 "medial forebrain bundle (DHBA)" xsd:string
+intersection_of: UBERON:0001910 ! medial forebrain bundle
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:PaV !
+property_value: IAO:0000589 "paraventricular nucleus of thalamus (DHBA)" xsd:string
+intersection_of: UBERON:0001920 ! paraventricular nucleus of thalamus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:Re !
+property_value: IAO:0000589 "reuniens nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0001921 ! reuniens nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:Pf !
+property_value: IAO:0000589 "parafascicular nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0001922 ! parafascicular nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:CeM !
+property_value: IAO:0000589 "central medial nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0001923 ! central medial nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:PC !
+property_value: IAO:0000589 "paracentral nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0001924 ! paracentral nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:VL !
+property_value: IAO:0000589 "ventral lateral nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0001925 ! ventral lateral nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:LG !
+property_value: IAO:0000589 "lateral geniculate body (DHBA)" xsd:string
+intersection_of: UBERON:0001926 ! lateral geniculate body
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:MG !
+property_value: IAO:0000589 "medial geniculate body (DHBA)" xsd:string
+intersection_of: UBERON:0001927 ! medial geniculate body
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:SO !
+property_value: IAO:0000589 "supraoptic nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0001929 ! supraoptic nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:PV !
+property_value: IAO:0000589 "paraventricular nucleus of hypothalamus (DHBA)" xsd:string
+intersection_of: UBERON:0001930 ! paraventricular nucleus of hypothalamus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:LPA !
+property_value: IAO:0000589 "lateral preoptic nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0001931 ! lateral preoptic nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:Arc !
+property_value: IAO:0000589 "arcuate nucleus of hypothalamus (DHBA)" xsd:string
+intersection_of: UBERON:0001932 ! arcuate nucleus of hypothalamus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:DMH !
+property_value: IAO:0000589 "dorsomedial nucleus of hypothalamus (DHBA)" xsd:string
+intersection_of: UBERON:0001934 ! dorsomedial nucleus of hypothalamus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:VMH !
+property_value: IAO:0000589 "ventromedial nucleus of hypothalamus (DHBA)" xsd:string
+intersection_of: UBERON:0001935 ! ventromedial nucleus of hypothalamus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:TM !
+property_value: IAO:0000589 "tuberomammillary nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0001936 ! tuberomammillary nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:LM !
+property_value: IAO:0000589 "lateral mammillary nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0001938 ! lateral mammillary nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:MM !
+property_value: IAO:0000589 "medial mammillary nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0001939 ! medial mammillary nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:SUM !
+property_value: IAO:0000589 "supramammillary nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0001940 ! supramammillary nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:LHN !
+property_value: IAO:0000589 "lateral habenular nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0001941 ! lateral habenular nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:MHN !
+property_value: IAO:0000589 "medial habenular nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0001942 ! medial habenular nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:MTg !
+property_value: IAO:0000589 "midbrain tegmentum (DHBA)" xsd:string
+intersection_of: UBERON:0001943 ! midbrain tegmentum
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:PTR !
+property_value: IAO:0000589 "pretectal region (DHBA)" xsd:string
+intersection_of: UBERON:0001944 ! pretectal region
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:SC !
+property_value: IAO:0000589 "superior colliculus (DHBA)" xsd:string
+intersection_of: UBERON:0001945 ! superior colliculus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:IC !
+property_value: IAO:0000589 "inferior colliculus (DHBA)" xsd:string
+intersection_of: UBERON:0001946 ! inferior colliculus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:RN !
+property_value: IAO:0000589 "red nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0001947 ! red nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:Hipp !
+property_value: IAO:0000589 "Ammon's horn (DHBA)" xsd:string
+intersection_of: UBERON:0001954 ! Ammon's horn
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:SNC !
+property_value: IAO:0000589 "substantia nigra pars compacta (DHBA)" xsd:string
+intersection_of: UBERON:0001965 ! substantia nigra pars compacta
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:SNR !
+property_value: IAO:0000589 "substantia nigra pars reticulata (DHBA)" xsd:string
+intersection_of: UBERON:0001966 ! substantia nigra pars reticulata
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:OccL !
+property_value: IAO:0000589 "occipital lobe (DHBA)" xsd:string
+intersection_of: UBERON:0002021 ! occipital lobe
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:InL !
+property_value: IAO:0000589 "insula (DHBA)" xsd:string
+intersection_of: UBERON:0002022 ! insula
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:Cla !
+property_value: IAO:0000589 "claustrum of brain (DHBA)" xsd:string
+intersection_of: UBERON:0002023 ! claustrum of brain
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:H !
+property_value: IAO:0000589 "hindbrain (DHBA)" xsd:string
+intersection_of: UBERON:0002028 ! hindbrain
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:SCN !
+property_value: IAO:0000589 "suprachiasmatic nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002034 ! suprachiasmatic nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:MPN !
+property_value: IAO:0000589 "medial preoptic nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002035 ! medial preoptic nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:CB !
+property_value: IAO:0000589 "cerebellum (DHBA)" xsd:string
+intersection_of: UBERON:0002037 ! cerebellum
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:SN !
+property_value: IAO:0000589 "substantia nigra (DHBA)" xsd:string
+intersection_of: UBERON:0002038 ! substantia nigra
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:DR !
+property_value: IAO:0000589 "dorsal raphe nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002043 ! dorsal raphe nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:Dk !
+property_value: IAO:0000589 "ventral nucleus of posterior commissure (DHBA)" xsd:string
+intersection_of: UBERON:0002044 ! ventral nucleus of posterior commissure
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:Cu !
+property_value: IAO:0000589 "cuneate nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002045 ! cuneate nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:PnRa !
+property_value: IAO:0000589 "pontine raphe nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002047 ! pontine raphe nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:PRn !
+property_value: IAO:0000589 "pontine raphe nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002047 ! pontine raphe nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:IO !
+property_value: IAO:0000589 "inferior olivary complex (DHBA)" xsd:string
+intersection_of: UBERON:0002127 ! inferior olivary complex
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:SOC !
+property_value: IAO:0000589 "superior olivary complex (DHBA)" xsd:string
+intersection_of: UBERON:0002128 ! superior olivary complex
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:CBC !
+property_value: IAO:0000589 "cerebellar cortex (DHBA)" xsd:string
+intersection_of: UBERON:0002129 ! cerebellar cortex
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:CbDN !
+property_value: IAO:0000589 "cerebellar nuclear complex (DHBA)" xsd:string
+intersection_of: UBERON:0002130 ! cerebellar nuclear complex
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:SCO !
+property_value: IAO:0000589 "subcommissural organ (DHBA)" xsd:string
+intersection_of: UBERON:0002139 ! subcommissural organ
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:PBG !
+property_value: IAO:0000589 "parabigeminal nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002140 ! parabigeminal nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:PC3 !
+property_value: IAO:0000589 "parvocellular oculomotor nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002141 ! parvocellular oculomotor nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:PNped !
+property_value: IAO:0000589 "pedunculopontine tegmental nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002142 ! pedunculopontine tegmental nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:DTg !
+property_value: IAO:0000589 "dorsal tegmental nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002143 ! dorsal tegmental nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:PP !
+property_value: IAO:0000589 "peripeduncular nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002144 ! peripeduncular nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:IP !
+property_value: IAO:0000589 "interpeduncular nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002145 ! interpeduncular nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:RTg !
+property_value: IAO:0000589 "reticulotegmental nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002147 ! reticulotegmental nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:RtTg !
+property_value: IAO:0000589 "reticulotegmental nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002147 ! reticulotegmental nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:LC !
+property_value: IAO:0000589 "locus ceruleus (DHBA)" xsd:string
+intersection_of: UBERON:0002148 ! locus ceruleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:SuSV !
+property_value: IAO:0000589 "superior salivatory nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002149 ! superior salivatory nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:scp !
+property_value: IAO:0000589 "superior cerebellar peduncle (DHBA)" xsd:string
+intersection_of: UBERON:0002150 ! superior cerebellar peduncle
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:PN !
+property_value: IAO:0000589 "pontine nuclear group (DHBA)" xsd:string
+intersection_of: UBERON:0002151 ! pontine nuclear group
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:mcp !
+property_value: IAO:0000589 "middle cerebellar peduncle (DHBA)" xsd:string
+intersection_of: UBERON:0002152 ! middle cerebellar peduncle
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:Fas !
+property_value: IAO:0000589 "fastigial nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002153 ! fastigial nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:RMg !
+property_value: IAO:0000589 "nucleus raphe magnus (DHBA)" xsd:string
+intersection_of: UBERON:0002156 ! nucleus raphe magnus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:RPa !
+property_value: IAO:0000589 "nucleus raphe pallidus (DHBA)" xsd:string
+intersection_of: UBERON:0002157 ! nucleus raphe pallidus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:IOPr !
+property_value: IAO:0000589 "principal inferior olivary nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002158 ! principal inferior olivary nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:IOM !
+property_value: IAO:0000589 "medial accessory inferior olivary nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002159 ! medial accessory inferior olivary nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:PrH !
+property_value: IAO:0000589 "nucleus prepositus (DHBA)" xsd:string
+intersection_of: UBERON:0002160 ! nucleus prepositus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:Gr !
+property_value: IAO:0000589 "gracile nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002161 ! gracile nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:AP !
+property_value: IAO:0000589 "area postrema (DHBA)" xsd:string
+intersection_of: UBERON:0002162 ! area postrema
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:icp !
+property_value: IAO:0000589 "inferior cerebellar peduncle (DHBA)" xsd:string
+intersection_of: UBERON:0002163 ! inferior cerebellar peduncle
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:tbu !
+property_value: IAO:0000589 "tectobulbar tract (DHBA)" xsd:string
+intersection_of: UBERON:0002164 ! tectobulbar tract
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:SGe !
+property_value: IAO:0000589 "substantia gelatinosa (DHBA)" xsd:string
+intersection_of: UBERON:0002181 ! substantia gelatinosa
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:S !
+property_value: IAO:0000589 "subiculum (DHBA)" xsd:string
+intersection_of: UBERON:0002191 ! subiculum
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:ChoF !
+property_value: IAO:0000589 "ventricular system choroidal fissure (DHBA)" xsd:string
+intersection_of: UBERON:0002192 ! ventricular system choroidal fissure
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:ACb !
+property_value: IAO:0000589 "adenohypophysis (DHBA)" xsd:string
+intersection_of: UBERON:0002196 ! adenohypophysis
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:ME !
+property_value: IAO:0000589 "median eminence of neurohypophysis (DHBA)" xsd:string
+intersection_of: UBERON:0002197 ! median eminence of neurohypophysis
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:MB !
+property_value: IAO:0000589 "mammillary body (DHBA)" xsd:string
+intersection_of: UBERON:0002206 ! mammillary body
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:SFO !
+property_value: IAO:0000589 "subfornical organ (DHBA)" xsd:string
+intersection_of: UBERON:0002219 ! subfornical organ
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:SpC !
+property_value: IAO:0000589 "spinal cord (DHBA)" xsd:string
+intersection_of: UBERON:0002240 ! spinal cord
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:CBH !
+property_value: IAO:0000589 "cerebellar hemisphere (DHBA)" xsd:string
+intersection_of: UBERON:0002245 ! cerebellar hemisphere
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:qgb !
+property_value: IAO:0000589 "corpora quadrigemina (DHBA)" xsd:string
+intersection_of: UBERON:0002259 ! corpora quadrigemina
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:OB !
+property_value: IAO:0000589 "olfactory bulb (DHBA)" xsd:string
+intersection_of: UBERON:0002264 ! olfactory bulb
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:olt !
+property_value: IAO:0000589 "olfactory tract (DHBA)" xsd:string
+intersection_of: UBERON:0002265 ! olfactory tract
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:AON !
+property_value: IAO:0000589 "anterior olfactory nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002266 ! anterior olfactory nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:LDTg !
+property_value: IAO:0000589 "laterodorsal tegmental nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002267 ! laterodorsal tegmental nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:PeF !
+property_value: IAO:0000589 "perifornical nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002274 ! perifornical nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:LV !
+property_value: IAO:0000589 "telencephalic ventricle (DHBA)" xsd:string
+intersection_of: UBERON:0002285 ! telencephalic ventricle
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:3V !
+property_value: IAO:0000589 "third ventricle (DHBA)" xsd:string
+intersection_of: UBERON:0002286 ! third ventricle
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:Aq !
+property_value: IAO:0000589 "midbrain cerebral aqueduct (DHBA)" xsd:string
+intersection_of: UBERON:0002289 ! midbrain cerebral aqueduct
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:MV !
+property_value: IAO:0000589 "midbrain cerebral aqueduct (DHBA)" xsd:string
+intersection_of: UBERON:0002289 ! midbrain cerebral aqueduct
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:Cho4V !
+property_value: IAO:0000589 "choroid plexus of fourth ventricle (DHBA)" xsd:string
+intersection_of: UBERON:0002290 ! choroid plexus of fourth ventricle
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:SV !
+property_value: IAO:0000589 "central canal of spinal cord (DHBA)" xsd:string
+intersection_of: UBERON:0002291 ! central canal of spinal cord
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:ChoLV !
+property_value: IAO:0000589 "choroid plexus of lateral ventricle (DHBA)" xsd:string
+intersection_of: UBERON:0002307 ! choroid plexus of lateral ventricle
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:mlf !
+property_value: IAO:0000589 "medial longitudinal fasciculus (DHBA)" xsd:string
+intersection_of: UBERON:0002309 ! medial longitudinal fasciculus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:fim !
+property_value: IAO:0000589 "hippocampus fimbria (DHBA)" xsd:string
+intersection_of: UBERON:0002310 ! hippocampus fimbria
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:MTc !
+property_value: IAO:0000589 "midbrain tectum (DHBA)" xsd:string
+intersection_of: UBERON:0002314 ! midbrain tectum
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:SGM !
+property_value: IAO:0000589 "gray matter of spinal cord (DHBA)" xsd:string
+intersection_of: UBERON:0002315 ! gray matter of spinal cord
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:SWM !
+property_value: IAO:0000589 "white matter of spinal cord (DHBA)" xsd:string
+intersection_of: UBERON:0002318 ! white matter of spinal cord
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:cc !
+property_value: IAO:0000589 "corpus callosum (DHBA)" xsd:string
+intersection_of: UBERON:0002336 ! corpus callosum
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:HIP !
+property_value: IAO:0000589 "hippocampal formation (DHBA)" xsd:string
+intersection_of: UBERON:0002421 ! hippocampal formation
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:4V !
+property_value: IAO:0000589 "fourth ventricle (DHBA)" xsd:string
+intersection_of: UBERON:0002422 ! fourth ventricle
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:STR !
+property_value: IAO:0000589 "striatum (DHBA)" xsd:string
+intersection_of: UBERON:0002435 ! striatum
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:VTg !
+property_value: IAO:0000589 "ventral tegmental nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002438 ! ventral tegmental nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:GPi !
+property_value: IAO:0000589 "medial globus pallidus (DHBA)" xsd:string
+intersection_of: UBERON:0002477 ! medial globus pallidus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:DLG !
+property_value: IAO:0000589 "dorsal lateral geniculate nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002479 ! dorsal lateral geniculate nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:PG !
+property_value: IAO:0000589 "ventral lateral geniculate nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002480 ! ventral lateral geniculate nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:vtth !
+property_value: IAO:0000589 "ventral trigeminal tract (DHBA)" xsd:string
+intersection_of: UBERON:0002549 ! ventral trigeminal tract
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:InC !
+property_value: IAO:0000589 "interstitial nucleus of Cajal (DHBA)" xsd:string
+intersection_of: UBERON:0002551 ! interstitial nucleus of Cajal
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:vecb !
+property_value: IAO:0000589 "vestibulocerebellar tract (DHBA)" xsd:string
+intersection_of: UBERON:0002552 ! vestibulocerebellar tract
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:cte !
+property_value: IAO:0000589 "corticotectal tract (DHBA)" xsd:string
+intersection_of: UBERON:0002556 ! corticotectal tract
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:Lin !
+property_value: IAO:0000589 "linear nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002557 ! linear nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:MoRF !
+property_value: IAO:0000589 "medullary reticular formation (DHBA)" xsd:string
+intersection_of: UBERON:0002559 ! medullary reticular formation
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:sfs !
+property_value: IAO:0000589 "superior frontal sulcus (DHBA)" xsd:string
+intersection_of: UBERON:0002562 ! superior frontal sulcus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:CIC !
+property_value: IAO:0000589 "central nucleus of inferior colliculus (DHBA)" xsd:string
+intersection_of: UBERON:0002563 ! central nucleus of inferior colliculus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:LOrG !
+property_value: IAO:0000589 "lateral orbital gyrus (DHBA)" xsd:string
+intersection_of: UBERON:0002564 ! lateral orbital gyrus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:OPT !
+property_value: IAO:0000589 "olivary pretectal nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002565 ! olivary pretectal nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:PnBa !
+property_value: IAO:0000589 "basal part of pons (DHBA)" xsd:string
+intersection_of: UBERON:0002567 ! basal part of pons
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:tts !
+property_value: IAO:0000589 "transverse temporal sulcus (DHBA)" xsd:string
+intersection_of: UBERON:0002569 ! transverse temporal sulcus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:MOrG !
+property_value: IAO:0000589 "medial orbital gyrus (DHBA)" xsd:string
+intersection_of: UBERON:0002570 ! medial orbital gyrus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:CICe !
+property_value: IAO:0000589 "external nucleus of inferior colliculus (DHBA)" xsd:string
+intersection_of: UBERON:0002571 ! external nucleus of inferior colliculus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:PnRF !
+property_value: IAO:0000589 "pontine reticular formation (DHBA)" xsd:string
+intersection_of: UBERON:0002573 ! pontine reticular formation
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:TP !
+property_value: IAO:0000589 "temporal pole (DHBA)" xsd:string
+intersection_of: UBERON:0002576 ! temporal pole
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:CxIC !
+property_value: IAO:0000589 "pericentral nucleus of inferior colliculus (DHBA)" xsd:string
+intersection_of: UBERON:0002577 ! pericentral nucleus of inferior colliculus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:bsc !
+property_value: IAO:0000589 "brachium of superior colliculus (DHBA)" xsd:string
+intersection_of: UBERON:0002580 ! brachium of superior colliculus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:PoCG !
+property_value: IAO:0000589 "postcentral gyrus (DHBA)" xsd:string
+intersection_of: UBERON:0002581 ! postcentral gyrus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:cas !
+property_value: IAO:0000589 "calcarine sulcus (DHBA)" xsd:string
+intersection_of: UBERON:0002586 ! calcarine sulcus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:SubC !
+property_value: IAO:0000589 "nucleus subceruleus (DHBA)" xsd:string
+intersection_of: UBERON:0002587 ! nucleus subceruleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:xscp !
+property_value: IAO:0000589 "decussation of superior cerebellar peduncle (DHBA)" xsd:string
+intersection_of: UBERON:0002588 ! decussation of superior cerebellar peduncle
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:lcs !
+property_value: IAO:0000589 "lateral corticospinal tract (DHBA)" xsd:string
+intersection_of: UBERON:0002589 ! lateral corticospinal tract
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:LOG !
+property_value: IAO:0000589 "prepyriform area (DHBA)" xsd:string
+intersection_of: UBERON:0002590 ! prepyriform area
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:jx !
+property_value: IAO:0000589 "juxtarestiform body (DHBA)" xsd:string
+intersection_of: UBERON:0002592 ! juxtarestiform body
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:OrO !
+property_value: IAO:0000589 "orbital operculum (DHBA)" xsd:string
+intersection_of: UBERON:0002593 ! orbital operculum
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:dtth !
+property_value: IAO:0000589 "dentatothalamic tract (DHBA)" xsd:string
+intersection_of: UBERON:0002594 ! dentatothalamic tract
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:ors !
+property_value: IAO:0000589 "orbital sulcus (DHBA)" xsd:string
+intersection_of: UBERON:0002595 ! orbital sulcus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:VPI !
+property_value: IAO:0000589 "ventral posterior nucleus of thalamus (DHBA)" xsd:string
+intersection_of: UBERON:0002596 ! ventral posterior nucleus of thalamus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:VPT !
+property_value: IAO:0000589 "ventral posterior nucleus of thalamus (DHBA)" xsd:string
+intersection_of: UBERON:0002596 ! ventral posterior nucleus of thalamus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:Pr5 !
+property_value: IAO:0000589 "principal sensory nucleus of trigeminal nerve (DHBA)" xsd:string
+intersection_of: UBERON:0002597 ! principal sensory nucleus of trigeminal nerve
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:pacs !
+property_value: IAO:0000589 "paracentral sulcus (DHBA)" xsd:string
+intersection_of: UBERON:0002598 ! paracentral sulcus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:LimL !
+property_value: IAO:0000589 "limbic lobe (DHBA)" xsd:string
+intersection_of: UBERON:0002600 ! limbic lobe
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:FaG !
+property_value: IAO:0000589 "fasciolar gyrus (DHBA)" xsd:string
+intersection_of: UBERON:0002601 ! fasciolar gyrus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:PTG !
+property_value: IAO:0000589 "paraterminal gyrus (DHBA)" xsd:string
+intersection_of: UBERON:0002603 ! paraterminal gyrus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:VLL !
+property_value: IAO:0000589 "ventral nucleus of lateral lemniscus (DHBA)" xsd:string
+intersection_of: UBERON:0002604 ! ventral nucleus of lateral lemniscus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:ros-s !
+property_value: IAO:0000589 "superior rostral sulcus (DHBA)" xsd:string
+intersection_of: UBERON:0002607 ! superior rostral sulcus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:VLC !
+property_value: IAO:0000589 "caudal part of ventral lateral nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002608 ! caudal part of ventral lateral nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:8Co !
+property_value: IAO:0000589 "cochlear nuclear complex (DHBA)" xsd:string
+intersection_of: UBERON:0002610 ! cochlear nuclear complex
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:ors-t !
+property_value: IAO:0000589 "transverse orbital sulcus (DHBA)" xsd:string
+intersection_of: UBERON:0002612 ! transverse orbital sulcus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:VM !
+property_value: IAO:0000589 "medial part of ventral lateral nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002614 ! medial part of ventral lateral nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:xvtg !
+property_value: IAO:0000589 "ventral tegmental decussation (DHBA)" xsd:string
+intersection_of: UBERON:0002615 ! ventral tegmental decussation
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:r4 !
+property_value: IAO:0000589 "trochlear nerve fibers (DHBA)" xsd:string
+intersection_of: UBERON:0002618 ! trochlear nerve fibers
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:TC !
+property_value: IAO:0000589 "tuber cinereum (DHBA)" xsd:string
+intersection_of: UBERON:0002620 ! tuber cinereum
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:pops !
+property_value: IAO:0000589 "preoptic periventricular nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002622 ! preoptic periventricular nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:IFGor !
+property_value: IAO:0000589 "orbital part of inferior frontal gyrus (DHBA)" xsd:string
+intersection_of: UBERON:0002624 ! orbital part of inferior frontal gyrus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:MnPO !
+property_value: IAO:0000589 "median preoptic nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002625 ! median preoptic nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:CaH !
+property_value: IAO:0000589 "head of caudate nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002626 ! head of caudate nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:CaT !
+property_value: IAO:0000589 "tail of caudate nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002628 ! tail of caudate nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:IFGtr !
+property_value: IAO:0000589 "triangular part of inferior frontal gyrus (DHBA)" xsd:string
+intersection_of: UBERON:0002629 ! triangular part of inferior frontal gyrus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:CaB !
+property_value: IAO:0000589 "body of caudate nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002630 ! body of caudate nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:MMm !
+property_value: IAO:0000589 "medial part of medial mammillary nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002632 ! medial part of medial mammillary nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:Mo5 !
+property_value: IAO:0000589 "motor nucleus of trigeminal nerve (DHBA)" xsd:string
+intersection_of: UBERON:0002633 ! motor nucleus of trigeminal nerve
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:AHN !
+property_value: IAO:0000589 "anterior nucleus of hypothalamus (DHBA)" xsd:string
+intersection_of: UBERON:0002634 ! anterior nucleus of hypothalamus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:Pull !
+property_value: IAO:0000589 "lateral pulvinar nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002636 ! lateral pulvinar nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:VA !
+property_value: IAO:0000589 "ventral anterior nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002637 ! ventral anterior nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:Pulm !
+property_value: IAO:0000589 "medial pulvinar nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002638 ! medial pulvinar nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:MRF !
+property_value: IAO:0000589 "midbrain reticular formation (DHBA)" xsd:string
+intersection_of: UBERON:0002639 ! midbrain reticular formation
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:cucb !
+property_value: IAO:0000589 "cuneocerebellar tract (DHBA)" xsd:string
+intersection_of: UBERON:0002640 ! cuneocerebellar tract
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:Pulr !
+property_value: IAO:0000589 "oral pulvinar nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002641 ! oral pulvinar nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:xml !
+property_value: IAO:0000589 "decussation of medial lemniscus (DHBA)" xsd:string
+intersection_of: UBERON:0002643 ! decussation of medial lemniscus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:MDd !
+property_value: IAO:0000589 "densocellular part of medial dorsal nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002645 ! densocellular part of medial dorsal nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:MDm !
+property_value: IAO:0000589 "magnocellular part of medial dorsal nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002647 ! magnocellular part of medial dorsal nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:aLV !
+property_value: IAO:0000589 "anterior horn of lateral ventricle (DHBA)" xsd:string
+intersection_of: UBERON:0002651 ! anterior horn of lateral ventricle
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:pmes !
+property_value: IAO:0000589 "posterior median eminence (DHBA)" xsd:string
+intersection_of: UBERON:0002652 ! posterior median eminence
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:bLV !
+property_value: IAO:0000589 "body of lateral ventricle (DHBA)" xsd:string
+intersection_of: UBERON:0002655 ! body of lateral ventricle
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:SLG !
+property_value: IAO:0000589 "periamygdaloid area (DHBA)" xsd:string
+intersection_of: UBERON:0002656 ! periamygdaloid area
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:PPH !
+property_value: IAO:0000589 "posterior parahippocampal gyrus (DHBA)" xsd:string
+intersection_of: UBERON:0002657 ! posterior parahippocampal gyrus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:SFG !
+property_value: IAO:0000589 "superior frontal gyrus (DHBA)" xsd:string
+intersection_of: UBERON:0002661 ! superior frontal gyrus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:SEP !
+property_value: IAO:0000589 "septal nuclear complex (DHBA)" xsd:string
+intersection_of: UBERON:0002663 ! septal nuclear complex
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:MMl !
+property_value: IAO:0000589 "lateral part of medial mammillary nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002664 ! lateral part of medial mammillary nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:me5 !
+property_value: IAO:0000589 "mesencephalic tract of trigeminal nerve (DHBA)" xsd:string
+intersection_of: UBERON:0002666 ! mesencephalic tract of trigeminal nerve
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:LSN !
+property_value: IAO:0000589 "lateral septal nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002667 ! lateral septal nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:r3 !
+property_value: IAO:0000589 "oculomotor nerve fibers (DHBA)" xsd:string
+intersection_of: UBERON:0002668 ! oculomotor nerve fibers
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:ptg !
+property_value: IAO:0000589 "pallidotegmental fasciculus (DHBA)" xsd:string
+intersection_of: UBERON:0002671 ! pallidotegmental fasciculus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:ascs !
+property_value: IAO:0000589 "anterior subcentral sulcus (DHBA)" xsd:string
+intersection_of: UBERON:0002672 ! anterior subcentral sulcus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:AD !
+property_value: IAO:0000589 "anterodorsal nucleus of thalamus (DHBA)" xsd:string
+intersection_of: UBERON:0002679 ! anterodorsal nucleus of thalamus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:AM !
+property_value: IAO:0000589 "anteromedial nucleus of thalamus (DHBA)" xsd:string
+intersection_of: UBERON:0002681 ! anteromedial nucleus of thalamus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:6N !
+property_value: IAO:0000589 "abducens nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002682 ! abducens nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:rs !
+property_value: IAO:0000589 "rhinal sulcus (DHBA)" xsd:string
+intersection_of: UBERON:0002683 ! rhinal sulcus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:ROb !
+property_value: IAO:0000589 "nucleus raphe obscurus (DHBA)" xsd:string
+intersection_of: UBERON:0002684 ! nucleus raphe obscurus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:AV !
+property_value: IAO:0000589 "anteroventral nucleus of thalamus (DHBA)" xsd:string
+intersection_of: UBERON:0002685 ! anteroventral nucleus of thalamus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:AnG !
+property_value: IAO:0000589 "angular gyrus (DHBA)" xsd:string
+intersection_of: UBERON:0002686 ! angular gyrus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:X !
+property_value: IAO:0000589 "area X of ventral lateral nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002687 ! area X of ventral lateral nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:SMG !
+property_value: IAO:0000589 "supramarginal gyrus (DHBA)" xsd:string
+intersection_of: UBERON:0002688 ! supramarginal gyrus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:OVLT !
+property_value: IAO:0000589 "supraoptic crest (DHBA)" xsd:string
+intersection_of: UBERON:0002689 ! supraoptic crest
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:AVPe !
+property_value: IAO:0000589 "anteroventral periventricular nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002690 ! anteroventral periventricular nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:VTA !
+property_value: IAO:0000589 "ventral tegmental area (DHBA)" xsd:string
+intersection_of: UBERON:0002691 ! ventral tegmental area
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:ots !
+property_value: IAO:0000589 "occipitotemporal sulcus (DHBA)" xsd:string
+intersection_of: UBERON:0002693 ! occipitotemporal sulcus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:pos !
+property_value: IAO:0000589 "parieto-occipital sulcus (DHBA)" xsd:string
+intersection_of: UBERON:0002695 ! parieto-occipital sulcus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:CnF !
+property_value: IAO:0000589 "cuneiform nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002696 ! cuneiform nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:PrN !
+property_value: IAO:0000589 "preoccipital notch (DHBA)" xsd:string
+intersection_of: UBERON:0002698 ! preoccipital notch
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:SubCn !
+property_value: IAO:0000589 "subcuneiform nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002700 ! subcuneiform nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:3AM !
+property_value: IAO:0000589 "anterior median oculomotor nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002701 ! anterior median oculomotor nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:MFG !
+property_value: IAO:0000589 "middle frontal gyrus (DHBA)" xsd:string
+intersection_of: UBERON:0002702 ! middle frontal gyrus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:PrCG !
+property_value: IAO:0000589 "precentral gyrus (DHBA)" xsd:string
+intersection_of: UBERON:0002703 ! precentral gyrus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:PHN !
+property_value: IAO:0000589 "posterior nucleus of hypothalamus (DHBA)" xsd:string
+intersection_of: UBERON:0002706 ! posterior nucleus of hypothalamus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:csp-h !
+property_value: IAO:0000589 "corticospinal tract (DHBA)" xsd:string
+intersection_of: UBERON:0002707 ! corticospinal tract
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:PoN !
+property_value: IAO:0000589 "posterior nuclear complex of thalamus (DHBA)" xsd:string
+intersection_of: UBERON:0002709 ! posterior nuclear complex of thalamus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:cis !
+property_value: IAO:0000589 "cingulate sulcus (DHBA)" xsd:string
+intersection_of: UBERON:0002710 ! cingulate sulcus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:rusp !
+property_value: IAO:0000589 "rubrospinal tract (DHBA)" xsd:string
+intersection_of: UBERON:0002714 ! rubrospinal tract
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:cols !
+property_value: IAO:0000589 "collateral sulcus (DHBA)" xsd:string
+intersection_of: UBERON:0002716 ! collateral sulcus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:sol !
+property_value: IAO:0000589 "solitary tract (DHBA)" xsd:string
+intersection_of: UBERON:0002718 ! solitary tract
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:spol !
+property_value: IAO:0000589 "spino-olivary tract (DHBA)" xsd:string
+intersection_of: UBERON:0002719 ! spino-olivary tract
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:mp !
+property_value: IAO:0000589 "mammillary peduncle (DHBA)" xsd:string
+intersection_of: UBERON:0002720 ! mammillary peduncle
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:tranf !
+property_value: IAO:0000589 "lateral sulcus (DHBA)" xsd:string
+intersection_of: UBERON:0002721 ! lateral sulcus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:4N !
+property_value: IAO:0000589 "trochlear nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002722 ! trochlear nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:LI !
+property_value: IAO:0000589 "limen of insula (DHBA)" xsd:string
+intersection_of: UBERON:0002724 ! limen of insula
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:imlgp !
+property_value: IAO:0000589 "medial medullary lamina of globus pallidus (DHBA)" xsd:string
+intersection_of: UBERON:0002727 ! medial medullary lamina of globus pallidus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:EC !
+property_value: IAO:0000589 "entorhinal cortex (DHBA)" xsd:string
+intersection_of: UBERON:0002728 ! entorhinal cortex
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:CLv !
+property_value: IAO:0000589 "claustral amygdaloid area (DHBA)" xsd:string
+intersection_of: UBERON:0002729 ! claustral amygdaloid area
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:r8 !
+property_value: IAO:0000589 "vestibulocochlear nerve root (DHBA)" xsd:string
+intersection_of: UBERON:0002731 ! vestibulocochlear nerve root
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:lfpn !
+property_value: IAO:0000589 "longitudinal pontine fibers (DHBA)" xsd:string
+intersection_of: UBERON:0002732 ! longitudinal pontine fibers
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:sts !
+property_value: IAO:0000589 "superior temporal sulcus (DHBA)" xsd:string
+intersection_of: UBERON:0002734 ! superior temporal sulcus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:tfp !
+property_value: IAO:0000589 "transverse pontine fibers (DHBA)" xsd:string
+intersection_of: UBERON:0002735 ! transverse pontine fibers
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:MD !
+property_value: IAO:0000589 "medial dorsal nucleus of thalamus (DHBA)" xsd:string
+intersection_of: UBERON:0002739 ! medial dorsal nucleus of thalamus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:dib !
+property_value: IAO:0000589 "diagonal band of Broca (DHBA)" xsd:string
+intersection_of: UBERON:0002741 ! diagonal band of Broca
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:BF !
+property_value: IAO:0000589 "basal forebrain (DHBA)" xsd:string
+intersection_of: UBERON:0002743 ! basal forebrain
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:ITG !
+property_value: IAO:0000589 "inferior temporal gyrus (DHBA)" xsd:string
+intersection_of: UBERON:0002751 ! inferior temporal gyrus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:ocb !
+property_value: IAO:0000589 "olivocerebellar tract (DHBA)" xsd:string
+intersection_of: UBERON:0002752 ! olivocerebellar tract
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:dsc !
+property_value: IAO:0000589 "posterior spinocerebellar tract (DHBA)" xsd:string
+intersection_of: UBERON:0002753 ! posterior spinocerebellar tract
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:xpy !
+property_value: IAO:0000589 "pyramidal decussation (DHBA)" xsd:string
+intersection_of: UBERON:0002755 ! pyramidal decussation
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:DMG !
+property_value: IAO:0000589 "dorsal nucleus of medial geniculate body (DHBA)" xsd:string
+intersection_of: UBERON:0002758 ! dorsal nucleus of medial geniculate body
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:MMG !
+property_value: IAO:0000589 "magnocellular nucleus of medial geniculate body (DHBA)" xsd:string
+intersection_of: UBERON:0002759 ! magnocellular nucleus of medial geniculate body
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:vcsp !
+property_value: IAO:0000589 "ventral corticospinal tract (DHBA)" xsd:string
+intersection_of: UBERON:0002760 ! ventral corticospinal tract
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:ifs !
+property_value: IAO:0000589 "inferior frontal sulcus (DHBA)" xsd:string
+intersection_of: UBERON:0002761 ! inferior frontal sulcus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:imlth !
+property_value: IAO:0000589 "internal medullary lamina of thalamus (DHBA)" xsd:string
+intersection_of: UBERON:0002762 ! internal medullary lamina of thalamus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:emlgp !
+property_value: IAO:0000589 "lateral medullary lamina of globus pallidus (DHBA)" xsd:string
+intersection_of: UBERON:0002765 ! lateral medullary lamina of globus pallidus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:ros-i !
+property_value: IAO:0000589 "inferior rostral sulcus (DHBA)" xsd:string
+intersection_of: UBERON:0002767 ! inferior rostral sulcus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:STG !
+property_value: IAO:0000589 "superior temporal gyrus (DHBA)" xsd:string
+intersection_of: UBERON:0002769 ! superior temporal gyrus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:MTG !
+property_value: IAO:0000589 "middle temporal gyrus (DHBA)" xsd:string
+intersection_of: UBERON:0002771 ! middle temporal gyrus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:ols !
+property_value: IAO:0000589 "olfactory sulcus (DHBA)" xsd:string
+intersection_of: UBERON:0002772 ! olfactory sulcus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:olcob !
+property_value: IAO:0000589 "olivocochlear bundle (DHBA)" xsd:string
+intersection_of: UBERON:0002775 ! olivocochlear bundle
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:VeP !
+property_value: IAO:0000589 "ventral pallidum (DHBA)" xsd:string
+intersection_of: UBERON:0002778 ! ventral pallidum
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:LSO !
+property_value: IAO:0000589 "lateral superior olivary nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002779 ! lateral superior olivary nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:VPLc !
+property_value: IAO:0000589 "caudal part of ventral posterolateral nucleus of thalamus (DHBA)" xsd:string
+intersection_of: UBERON:0002781 ! caudal part of ventral posterolateral nucleus of thalamus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:MSO !
+property_value: IAO:0000589 "medial superior olivary nucleus (DHBA)" xsd:string
+intersection_of: UBERON:0002782 ! medial superior olivary nucleus
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:r6 !
+property_value: IAO:0000589 "abducens nerve fibers (DHBA)" xsd:string
+intersection_of: UBERON:0002786 ! abducens nerve fibers
+intersection_of: part_of NCBITaxon:9606
+
+[Term]
+id: DHBA:ANC !
+property_value: IAO:0000589 "anterior nuclear group (DHBA)" xsd:string
+intersection_of: UBERON:0002788 ! anterior nuclear group
+intersection_of: part_of NCBITaxon:...
[truncated message content] |
|
From: <cmu...@us...> - 2014-11-02 21:25:18
|
Revision: 5222
http://sourceforge.net/p/obo/svn/5222
Author: cmungall
Date: 2014-11-02 21:24:50 +0000 (Sun, 02 Nov 2014)
Log Message:
-----------
* neuroanatomy - issue #609
* Added xrefs for additional Allen ontologies: DHBA, HBA and DMBA
* Note we retain prefix ABA (though MBA would be consistent with the above)
* Also added xrefs for Nlx classes not in NIFSTD
* This release comes with a new ontology, composite-brain.obo
* Other
* NT: {upper,lower} eyelash. Fixes issue #606 HPO:sk
* added spatial disjoints: glands are never parts of the skeletal system - Fixes issue #607 and prevents further issues of this sort. HPO:sk
* tidied up confusion between orbital regions and ocular regions - see notes below
* Fixed incorrect logical def. Fixes issue #602
* fixed typo. closes issue #605
* Fixed EMAPA stage/embryo xrefs. Fixes issue #601
## orbital region changes
UBERON:0001697 has been relabeled from 'orbital region' to 'orbit of
skull' to make its nature as part of the skeleton clear.
The overall partonomy is now
ocular region (subdivision of face)
orbit of skull (skeletal)
eyebrow
eye
eyeball
eyelid
lacrimal gland
Modified Paths:
--------------
uberon/trunk/basic.obo
uberon/trunk/basic.owl
uberon/trunk/bridge/external-disjoints.owl
uberon/trunk/bridge/uberon-bridge-to-aao.obo
uberon/trunk/bridge/uberon-bridge-to-aao.owl
uberon/trunk/bridge/uberon-bridge-to-aba.obo
uberon/trunk/bridge/uberon-bridge-to-aba.owl
uberon/trunk/bridge/uberon-bridge-to-aeo.obo
uberon/trunk/bridge/uberon-bridge-to-aeo.owl
uberon/trunk/bridge/uberon-bridge-to-bila.obo
uberon/trunk/bridge/uberon-bridge-to-bila.owl
uberon/trunk/bridge/uberon-bridge-to-caro.obo
uberon/trunk/bridge/uberon-bridge-to-caro.owl
uberon/trunk/bridge/uberon-bridge-to-efo.obo
uberon/trunk/bridge/uberon-bridge-to-efo.owl
uberon/trunk/bridge/uberon-bridge-to-ehdaa.obo
uberon/trunk/bridge/uberon-bridge-to-ehdaa.owl
uberon/trunk/bridge/uberon-bridge-to-ehdaa2.obo
uberon/trunk/bridge/uberon-bridge-to-ehdaa2.owl
uberon/trunk/bridge/uberon-bridge-to-emapa.obo
uberon/trunk/bridge/uberon-bridge-to-emapa.owl
uberon/trunk/bridge/uberon-bridge-to-fbbt.obo
uberon/trunk/bridge/uberon-bridge-to-fbbt.owl
uberon/trunk/bridge/uberon-bridge-to-fbdv.obo
uberon/trunk/bridge/uberon-bridge-to-fbdv.owl
uberon/trunk/bridge/uberon-bridge-to-fma.obo
uberon/trunk/bridge/uberon-bridge-to-fma.owl
uberon/trunk/bridge/uberon-bridge-to-go.obo
uberon/trunk/bridge/uberon-bridge-to-go.owl
uberon/trunk/bridge/uberon-bridge-to-hao.obo
uberon/trunk/bridge/uberon-bridge-to-hao.owl
uberon/trunk/bridge/uberon-bridge-to-ma.obo
uberon/trunk/bridge/uberon-bridge-to-ma.owl
uberon/trunk/bridge/uberon-bridge-to-mfo.obo
uberon/trunk/bridge/uberon-bridge-to-mfo.owl
uberon/trunk/bridge/uberon-bridge-to-ncithesaurus.obo
uberon/trunk/bridge/uberon-bridge-to-ncithesaurus.owl
uberon/trunk/bridge/uberon-bridge-to-nifstd.obo
uberon/trunk/bridge/uberon-bridge-to-nifstd.owl
uberon/trunk/bridge/uberon-bridge-to-og.obo
uberon/trunk/bridge/uberon-bridge-to-og.owl
uberon/trunk/bridge/uberon-bridge-to-sctid.obo
uberon/trunk/bridge/uberon-bridge-to-sctid.owl
uberon/trunk/bridge/uberon-bridge-to-spd.obo
uberon/trunk/bridge/uberon-bridge-to-spd.owl
uberon/trunk/bridge/uberon-bridge-to-tads.obo
uberon/trunk/bridge/uberon-bridge-to-tads.owl
uberon/trunk/bridge/uberon-bridge-to-tao.obo
uberon/trunk/bridge/uberon-bridge-to-tao.owl
uberon/trunk/bridge/uberon-bridge-to-tgma.obo
uberon/trunk/bridge/uberon-bridge-to-tgma.owl
uberon/trunk/bridge/uberon-bridge-to-vhog.owl
uberon/trunk/bridge/uberon-bridge-to-vsao.obo
uberon/trunk/bridge/uberon-bridge-to-vsao.owl
uberon/trunk/bridge/uberon-bridge-to-wbbt.obo
uberon/trunk/bridge/uberon-bridge-to-wbbt.owl
uberon/trunk/bridge/uberon-bridge-to-wbls.obo
uberon/trunk/bridge/uberon-bridge-to-wbls.owl
uberon/trunk/bridge/uberon-bridge-to-xao.obo
uberon/trunk/bridge/uberon-bridge-to-xao.owl
uberon/trunk/bridge/uberon-bridge-to-zfa.obo
uberon/trunk/bridge/uberon-bridge-to-zfa.owl
uberon/trunk/bridge/uberon-bridge-to-zfs.obo
uberon/trunk/bridge/uberon-bridge-to-zfs.owl
uberon/trunk/chebi_import.owl
uberon/trunk/cl_import.owl
uberon/trunk/composite-brain.obo
uberon/trunk/composite-metazoan-basic.obo
uberon/trunk/composite-metazoan.obo
uberon/trunk/composite-metazoan.owl
uberon/trunk/composite-vertebrate.obo
uberon/trunk/composite-vertebrate.owl
uberon/trunk/core.obo
uberon/trunk/core.owl
uberon/trunk/depictions.owl
uberon/trunk/diffs/def_diffs.rss
uberon/trunk/diffs/new_term.rss
uberon/trunk/diffs/obs_term.rss
uberon/trunk/diffs/uberon-combined-diff.txt
uberon/trunk/diffs/uberon-def-diff.html
uberon/trunk/diffs/uberon-def-diff.txt
uberon/trunk/diffs/uberon-diff.md
uberon/trunk/diffs/uberon-obo-diff.html
uberon/trunk/diffs/uberon-obo-diff.txt
uberon/trunk/ext.obo
uberon/trunk/ext.owl
uberon/trunk/external-disjoints.obo
uberon/trunk/external-disjoints.owl
uberon/trunk/go_import.owl
uberon/trunk/merged.obo
uberon/trunk/merged.owl
uberon/trunk/ncbitaxon_import.owl
uberon/trunk/pato_import.owl
uberon/trunk/pr_import.owl
uberon/trunk/reports/stages-human-report.tsv
uberon/trunk/reports/stages-metazoan-report.tsv
uberon/trunk/reports/stages-mouse-report.tsv
uberon/trunk/reports/stages-xenopus-report.tsv
uberon/trunk/subsets/amniote-basic.obo
uberon/trunk/subsets/amniote-basic.owl
uberon/trunk/subsets/appendicular-minimal.obo
uberon/trunk/subsets/circulatory-minimal.obo
uberon/trunk/subsets/cranial-minimal.obo
uberon/trunk/subsets/cumbo.obo
uberon/trunk/subsets/cumbo.owl
uberon/trunk/subsets/digestive-minimal.obo
uberon/trunk/subsets/efo-slim.obo
uberon/trunk/subsets/efo-slim.owl
uberon/trunk/subsets/euarchontoglires-basic.obo
uberon/trunk/subsets/euarchontoglires-basic.owl
uberon/trunk/subsets/life-stages-composite.obo
uberon/trunk/subsets/life-stages-core.obo
uberon/trunk/subsets/life-stages-core.owl
uberon/trunk/subsets/musculoskeletal-minimal.obo
uberon/trunk/subsets/nervous-minimal.obo
uberon/trunk/subsets/sensory-minimal.obo
uberon/trunk/subsets/uberon-with-isa-for-FMA-MA-ZFA.obo
uberon/trunk/uberon.obo
uberon/trunk/uberon.owl
Modified: uberon/trunk/basic.obo
===================================================================
--- uberon/trunk/basic.obo 2014-11-02 21:15:49 UTC (rev 5221)
+++ uberon/trunk/basic.obo 2014-11-02 21:24:50 UTC (rev 5222)
@@ -1,6 +1,6 @@
format-version: 1.2
-data-version: uberon/releases/2014-10-26/basic.owl
-date: 26:10:2014 20:01
+data-version: uberon/releases/2014-11-01/basic.owl
+date: 01:11:2014 15:12
saved-by: cjm
subsetdef: cumbo "CUMBO"
subsetdef: cyclostome_subset "cyclostome structures"
@@ -42,7 +42,7 @@
synonymtypedef: PLURAL "plural term"
synonymtypedef: SENSU "taxonomic disambiguation"
default-namespace: uberon
-remark: Includes Ontology(OntologyID(OntologyIRI(<http://purl.obolibrary.org/obo/uberon/ext.owl>))) [Axioms: 25031 Logical Axioms: 4724]
+remark: Includes Ontology(OntologyID(OntologyIRI(<http://purl.obolibrary.org/obo/uberon/ext.owl>))) [Axioms: 25042 Logical Axioms: 4727]
treat-xrefs-as-equivalent: AEO
treat-xrefs-as-equivalent: BILA
treat-xrefs-as-equivalent: BSPO
@@ -171,17 +171,21 @@
owl-axioms: Prefix(owl:=<http://www.w3.org/2002/07/owl#>)\nPrefix(rdf:=<http://www.w3.org/1999/02/22-rdf-syntax-ns#>)\nPrefix(xml:=<http://www.w3.org/XML/1998/namespace>)\nPrefix(xsd:=<http://www.w3.org/2001/XMLSchema#>)\nPrefix(rdfs:=<http://www.w3.org/2000/01/rdf-schema#>)\n\n\nOntology(\nSubClassOf(<http://purl.obolibrary.org/obo/UBERON_4200230> ObjectIntersectionOf(ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0001474>) <http://purl.obolibrary.org/obo/UBERON_0006984>))\n)
treat-xrefs-as-reverse-genus-differentia: AAO part_of NCBITaxon:8292
treat-xrefs-as-reverse-genus-differentia: ABA part_of NCBITaxon:10090
+treat-xrefs-as-reverse-genus-differentia: DHBA part_of NCBITaxon:9606
+treat-xrefs-as-reverse-genus-differentia: DMBA part_of NCBITaxon:10090
treat-xrefs-as-reverse-genus-differentia: EHDAA2 part_of NCBITaxon:9606
treat-xrefs-as-reverse-genus-differentia: EMAPA part_of NCBITaxon:10090
treat-xrefs-as-reverse-genus-differentia: FBbt part_of NCBITaxon:7227
treat-xrefs-as-reverse-genus-differentia: FBdv part_of NCBITaxon:7227
treat-xrefs-as-reverse-genus-differentia: FMA part_of NCBITaxon:9606
treat-xrefs-as-reverse-genus-differentia: HAO part_of NCBITaxon:7399
+treat-xrefs-as-reverse-genus-differentia: HBA part_of NCBITaxon:9606
treat-xrefs-as-reverse-genus-differentia: HsapDv part_of NCBITaxon:9606
treat-xrefs-as-reverse-genus-differentia: MA part_of NCBITaxon:10090
treat-xrefs-as-reverse-genus-differentia: MFO part_of NCBITaxon:8089
treat-xrefs-as-reverse-genus-differentia: MmusDv part_of NCBITaxon:10090
treat-xrefs-as-reverse-genus-differentia: OlatDv part_of NCBITaxon:8089
+treat-xrefs-as-reverse-genus-differentia: PBA part_of NCBITaxon:9443
treat-xrefs-as-reverse-genus-differentia: SPD part_of NCBITaxon:6893
treat-xrefs-as-reverse-genus-differentia: TADS part_of NCBITaxon:6939
treat-xrefs-as-reverse-genus-differentia: TAO part_of NCBITaxon:32443
@@ -385,6 +389,7 @@
xref: BM:Die-Hy-HY
xref: BTO:0001073
xref: CALOHA:TS-0798
+xref: DHBA:Pit
xref: EFO:0000857
xref: EHDAA:2183
xref: EHDAA:4477
@@ -394,6 +399,7 @@
xref: EV:0100132
xref: FMA:13889
xref: GAID:457
+xref: HBA:Pit
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=399
xref: http://linkedlifedata.com/resource/umls/id/C0032005
xref: http://www.snomedbrowser.com/Codes/Details/181125003
@@ -744,13 +750,13 @@
[Term]
id: UBERON:0000019
name: camera-type eye
-def: "The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field[GO]. The eye contains the following parts (when they are present in the organism): the eyeball (eye proper), the lacrimal apparatus, the conjuctival, the eyelid." [GO:0043010, https://orcid.org/0000-0002-6601-2165]
+def: "An organ of sight that includes the camera-type eyeball and supporting structures such as the lacrimal apparatus, the conjunctiva, the eyelid." [GO:0043010, https://orcid.org/0000-0002-6601-2165]
subset: uberon_slim
subset: vertebrate_core
synonym: "camera-type eye plus associated structures" RELATED []
synonym: "eye" BROAD [FMA:54448]
synonym: "eyes" RELATED PLURAL [TAO:0000107]
-synonym: "orbital part of face" EXACT [FMA:54448]
+synonym: "orbital part of face" RELATED [FMA:54448]
synonym: "orbital region" RELATED [FMA:54448]
synonym: "regio orbitalis" EXACT LATIN [FMA:54448, FMA:TA]
synonym: "vertebrate eye" NARROW []
@@ -780,7 +786,7 @@
relationship: develops_from UBERON:0003072 ! optic cup
relationship: part_of UBERON:0004088 ! ocular region
property_value: external_definition "A cavitated compound organ that transduces light waves into neural signals.[TAO]" xsd:string
-property_value: external_ontology_notes "FMA distinguishes Eye (subdivision of face) which has its parts an Eyeball (organ). MA includes eyelid, conjunctiva and lacrimal apparatus as part of MA:eye - consistent with FMA - so we can infer that MA:eye is more like FMA:eye than FMA:eyeball. For other AOs this distinction is less meaningful - e.g. ZFA has no eyelid; XAO has no eyelid, but it has conjuctiva, which is considered part of the xao:eye. GO considers eyelid development part of eye development. See also notes on optic nerve - XAO, AAO and BTO consider this part of the eye. MA considers the eye muscles part of the eye, whereas FMA has a class 'orbital content' for this" xsd:string
+property_value: external_ontology_notes "FMA distinguishes Eye (subdivision of face) which has its parts an Eyeball (organ), as well as other structures, and the orbit of skull. MA includes eyelid, conjunctiva and lacrimal apparatus as part of MA:eye - consistent with FMA - so we can infer that MA:eye is more like FMA:eye than FMA:eyeball. For other AOs this distinction is less meaningful - e.g. ZFA has no eyelid; XAO has no eyelid, but it has conjuctiva, which is considered part of the xao:eye. GO considers eyelid development part of eye development. See also notes on optic nerve - XAO, AAO and BTO consider this part of the eye. MA considers the eye muscles part of the eye, whereas FMA has a class 'orbital content' for this" xsd:string
property_value: homology_notes "The eye of the adult lamprey is remarkably similar to our own, and it possesses numerous features (including the expression of opsin genes) that are very similar to those of the eyes of jawed vertebrates. The lamprey's camera-like eye has a lens, an iris and extra-ocular muscles (five of them, unlike the eyes of jawed vertebrates, which have six), although it lacks intra-ocular muscles. Its retina also has a structure very similar to that of the retinas of other vertebrates, with three nuclear layers comprised of the cell bodies of photoreceptors and bipolar, horizontal, amacrine and ganglion cells. The southern hemisphere lamprey, Geotria australis, possesses five morphological classes of retinal photoreceptor and five classes of opsin, each of which is closely related to the opsins of jawed vertebrates. Given these similarities, we reach the inescapable conclusion that the last common ancestor of jawless and jawed vertebrates already possessed an eye that was comparable to that of extant lampreys and gnathostomes. Accordingly, a vertebrate camera-like eye must have been present by the time that lampreys and gnathostomes diverged, around 500 Mya.[well established][VHOG]" xsd:string
[Term]
@@ -1451,9 +1457,12 @@
xref: BAMS:f
xref: birnlex:705
xref: Cerebral:Fornix
+xref: DHBA:fx
+xref: DMBA:fx
xref: EMAPA:35352
xref: FMA:61965 {notes="inferred"}
xref: FMA:83865
+xref: HBA:fx
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=268 {source="NIF_GrossAnatomy:birnlex_705"}
xref: http://en.wikipedia.org/wiki/fornix_of_brain
xref: http://linkedlifedata.com/resource/umls/id/C0152334
@@ -2627,7 +2636,6 @@
xref: BILS:0000106
xref: EFO:0001322
xref: EHDAA:27
-xref: EMAPA:16033
xref: FBdv:00005288
xref: http://en.wikipedia.org/wiki/Zygote
xref: http://ncicb.nci.nih.gov/xml/owl/EVS/Zygote
@@ -2922,6 +2930,7 @@
synonym: "neural fiber bundle" EXACT []
xref: CARO:0001001
xref: FBbt:00005099
+xref: nlx:147821
is_a: UBERON:0005162 ! multi cell component structure
relationship: part_of UBERON:0001016 ! nervous system
@@ -2987,6 +2996,7 @@
xref: FMA:54501
xref: http://en.wikipedia.org/wiki/Cranial_nerve_nucleus
xref: http://www.snomedbrowser.com/Codes/Details/280160003
+xref: nlx:28532
is_a: UBERON:0002308 ! nucleus of brain
property_value: foaf-depicted_by http://upload.wikimedia.org/wikipedia/commons/3/30/Gray696.png
property_value: foaf-depicted_by http://upload.wikimedia.org/wikipedia/commons/thumb/3/30/Gray696.png/200px-Gray696.png
@@ -3002,6 +3012,7 @@
xref: BAMS:7N
xref: BAMS:VII
xref: BM:Pons-VII
+xref: DHBA:7N
xref: EHDAA2:0004638
xref: EMAPA:35338
xref: EV:0100267
@@ -3751,6 +3762,7 @@
synonym: "dorsal telencephalon" EXACT [ZFA:0000505]
xref: Avian:pallium
xref: BTO:0003399
+xref: DMBA:Pall
xref: EFO:0003534
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=3240
xref: http://www.snomedbrowser.com/Codes/Details/369224000
@@ -3778,6 +3790,7 @@
synonym: "subpallium" NARROW [BTO:0003401, NCBITaxon:8782]
synonym: "ventral telencephalon" EXACT [ZFA:0000304]
xref: BTO:0003401
+xref: DMBA:SPall
xref: EFO:0003522
xref: TAO:0000304
xref: ZFA:0000304
@@ -5055,7 +5068,9 @@
def: "On either side of the corpus collosum, the fibers radiate in the white substance and pass to the various parts of the cerebral cortex; those curving forward from the genu into the frontal lobe constitute the forceps anterior, and those curving backward into the occipital lobe, the forceps posterior. Between these two parts is the main body of the fibers which constitute the tapetum and extend laterally on either side into the temporal lobe, and cover in the central part of the lateral ventricle. [Wikipedia via Greys]" [http://en.wikipedia.org/wiki/Tapetum_of_corpus_callosum]
synonym: "tapetum" BROAD INCONSISTENT [FMA:77208]
synonym: "tapetum corporis callosi" RELATED LATIN [http://en.wikipedia.org/wiki/Tapetum_of_corpus_callosum]
+xref: DHBA:tap
xref: FMA:77208
+xref: HBA:tap
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1596
xref: http://en.wikipedia.org/wiki/Tapetum_of_corpus_callosum
xref: http://www.snomedbrowser.com/Codes/Details/279312006
@@ -6031,6 +6046,7 @@
synonym: "nucleus entopeduncularis" RELATED []
xref: BAMS:EN
xref: BTO:0002475
+xref: DHBA:EnP
xref: FMA:77691
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2284
xref: http://www.snomedbrowser.com/Codes/Details/82705008
@@ -6070,7 +6086,9 @@
xref: BAMS:PARA
xref: BAMS:PVa
xref: BTO:0002455
+xref: DMBA:PVA
xref: FMA:76962
+xref: HBA:PVa
is_a: UBERON:0001920 ! paraventricular nucleus of thalamus
[Term]
@@ -6090,9 +6108,12 @@
xref: birnlex:1206
xref: BM:TU
xref: BTO:0002481
+xref: DHBA:LT
+xref: DMBA:LTu
xref: EV:0100240
xref: FMA:62336
-xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=428 {source="NIF_GrossAnatomy:birnlex_1206"}
+xref: HBA:LTu
+xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=428
xref: http://linkedlifedata.com/resource/umls/id/C0086527
xref: UMLS:C0086527 {source="NIF_GrossAnatomy:birnlex_1206"}
is_a: UBERON:0006568 ! hypothalamic nucleus
@@ -6279,6 +6300,7 @@
synonym: "prefrontal association cortex" EXACT [FMA:224850]
xref: BAMS:FrA
xref: BTO:0002807
+xref: DHBA:PFC
xref: EFO:0001384
xref: EMAPA:35356
xref: FMA:224850
@@ -6320,7 +6342,7 @@
id: UBERON:0000454
name: cerebral subcortex
def: "The layer located below the cerebral cortex that includes the forebrain, midbrain and hindbrain." [ncithesaurus:Cerebral_Subcortex]
-synonym: "Cerebral medulla" EXACT [FMA:242188]
+synonym: "cerebral medulla" EXACT [FMA:242188]
synonym: "subcortex" RELATED [BTO:0002858]
xref: BTO:0002858
xref: Cerebral:Subcortex
@@ -7365,8 +7387,11 @@
xref: BAMS:FG
xref: BAMS:hc
xref: birnlex:746
+xref: DHBA:hic
+xref: DMBA:hc
xref: EMAPA:35404
xref: FMA:61970
+xref: HBA:hc
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=273
xref: http://en.wikipedia.org/wiki/Commissure_of_fornix
xref: http://linkedlifedata.com/resource/umls/id/C0228287
@@ -7972,8 +7997,11 @@
xref: birnlex:1557
xref: BM:Tel-AC
xref: BTO:0002169
+xref: DHBA:ac
+xref: DMBA:ac
xref: EMAPA:19038
xref: FMA:61961
+xref: HBA:ac
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=205
xref: http://linkedlifedata.com/resource/umls/id/C0152335
xref: http://www.snomedbrowser.com/Codes/Details/279313001
@@ -8005,8 +8033,11 @@
xref: BAMS:pc
xref: birnlex:1026
xref: BM:MB-Tec-PC
+xref: DHBA:poc
+xref: DMBA:pc
xref: EMAPA:35695
xref: FMA:62072
+xref: HBA:pc
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=484 {source="NIF_GrossAnatomy:birnlex_1026"}
xref: http://linkedlifedata.com/resource/umls/id/C0152327
xref: MA:0002743
@@ -8074,6 +8105,7 @@
xref: BAMS:ON
xref: birnlex:1640
xref: CALOHA:TS-0713
+xref: DHBA:on
xref: EFO:0004258
xref: EHDAA:6788
xref: EHDAA2:0001313
@@ -8081,6 +8113,7 @@
xref: EMAPA:17846
xref: FMA:50863
xref: GAID:831
+xref: HBA:2n
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=289
xref: http://linkedlifedata.com/resource/umls/id/C0029130
xref: http://www.snomedbrowser.com/Codes/Details/180938001
@@ -8442,6 +8475,7 @@
xref: birnlex:796
xref: BTO:0000142
xref: CALOHA:TS-0095
+xref: DHBA:Br
xref: EFO:0000302
xref: EHDAA:2641
xref: EHDAA:6485
@@ -8452,6 +8486,7 @@
xref: FMA:50801
xref: GAID:571
xref: galen:Brain
+xref: HBA:Br
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=21
xref: http://en.wikipedia.org/wiki/Brain
xref: http://linkedlifedata.com/resource/umls/id/C0006104
@@ -8463,6 +8498,7 @@
xref: MESH:A08.186.211
xref: MIAA:0000098
xref: OpenCyc:Mx4rvVjT65wpEbGdrcN5Y29ycA
+xref: PBA:Br
xref: TAO:0000008
xref: UMLS:C0006104 {source="ncithesaurus:Brain"}
xref: UMLS:C1269537 {source="NIF_GrossAnatomy:birnlex_796"}
@@ -8503,6 +8539,7 @@
xref: BTO:0000233
xref: CALOHA:TS-0091
xref: Cerebral:cortex
+xref: DHBA:Cx
xref: EFO:0000328
xref: EHDAA:5464
xref: EHDAA2:0000234
@@ -8510,6 +8547,7 @@
xref: EV:0100166
xref: FMA:61830
xref: GAID:629
+xref: HBA:Cx
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=39 {source="NIF_GrossAnatomy:birnlex_1494"}
xref: http://linkedlifedata.com/resource/umls/id/C0007776
xref: http://ncicb.nci.nih.gov/xml/owl/EVS/Cortex
@@ -8518,7 +8556,8 @@
xref: MAT:0000108
xref: MESH:A08.186.211.730.885.213
xref: MIAA:0000108
-xref: UMLS:C0007776 {source="ncithesaurus:Cortex"}
+xref: PBA:Cx
+xref: UMLS:C0007776 {source="NIF_GrossAnatomy:birnlex_1494"}
xref: VHOG:0000722
is_a: UBERON:0010314 ! structure with developmental contribution from neural crest
is_a: UBERON:0016548 ! central nervous system gray matter layer
@@ -8575,6 +8614,8 @@
xref: BAMS:ox
xref: birnlex:1416
xref: BM:Tel-OCX
+xref: DHBA:ox
+xref: DMBA:och
xref: EHDAA:10227
xref: EHDAA2:0001302
xref: EMAPA:17603
@@ -9345,12 +9386,14 @@
xref: BM:Pons
xref: BTO:0001101
xref: CALOHA:TS-0813
+xref: DHBA:Pn
xref: EFO:0001394
xref: EHDAA2:0004394
xref: EMAPA:17563
xref: EV:0100253
xref: FMA:67943
xref: GAID:578
+xref: HBA:Pons
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=547 {source="NIF_GrossAnatomy:birnlex_733"}
xref: http://en.wikipedia.org/wiki/Pons
xref: http://linkedlifedata.com/resource/umls/id/C0032639
@@ -10405,9 +10448,11 @@
synonym: "neuraxis tract" EXACT [FMA:83847]
synonym: "tract" RELATED []
synonym: "tract of neuraxis" EXACT [FMA:83847]
+xref: birnlex:1649
xref: EV:0100304
xref: FBbt:00005100
xref: FMA:83847
+xref: nlx:147822
is_a: UBERON:0000122 ! neuron projection bundle
is_a: UBERON:0011215 ! central nervous system cell part cluster
relationship: part_of UBERON:0001017 ! central nervous system
@@ -10486,6 +10531,7 @@
xref: http://www.snomedbrowser.com/Codes/Details/256864008
xref: MA:0000217
xref: Nervous:system
+xref: nlx:147826
xref: OpenCyc:Mx4rwP3lkpwpEbGdrcN5Y29ycA
xref: TAO:0007009
xref: UMLS:C0027740 {source="ncithesaurus:Nerve"}
@@ -11133,6 +11179,7 @@
xref: AAO:0010617
xref: BTO:0001057
xref: CALOHA:TS-2371
+xref: DHBA:NT
xref: EHDAA:2869
xref: EHDAA:908
xref: EHDAA2:0001254
@@ -11403,6 +11450,7 @@
xref: BAMS:FL
xref: BAMS:Fl
xref: birnlex:1329
+xref: DMBA:Fl
xref: EMAPA:35346
xref: Flocculus:(cerebellar)
xref: FMA:83881
@@ -24616,6 +24664,7 @@
xref: EMAPA:17797
xref: FMA:46787
xref: GAID:830
+xref: HBA:1n
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=32
xref: http://linkedlifedata.com/resource/umls/id/C0028938
xref: http://linkedlifedata.com/resource/umls/id/C1268984
@@ -26268,6 +26317,7 @@
xref: EMAPA:17574
xref: FMA:50864
xref: GAID:829
+xref: HBA:3n
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=488
xref: http://linkedlifedata.com/resource/umls/id/C0028864
xref: http://www.snomedbrowser.com/Codes/Details/362456009
@@ -26321,6 +26371,7 @@
xref: EMAPA:18218
xref: FMA:50865
xref: GAID:838
+xref: HBA:4n
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=466 {source="NIF_GrossAnatomy:birnlex_1654"}
xref: http://linkedlifedata.com/resource/umls/id/C0041159
xref: http://www.snomedbrowser.com/Codes/Details/180939009
@@ -26374,6 +26425,7 @@
xref: EMAPA:17576
xref: FMA:50866
xref: GAID:726
+xref: HBA:5n
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=549
xref: http://linkedlifedata.com/resource/umls/id/C0040996
xref: http://www.snomedbrowser.com/Codes/Details/362459002
@@ -26427,6 +26479,7 @@
xref: EMAPA:18216
xref: FMA:50867
xref: GAID:824
+xref: HBA:6n
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=550
xref: http://linkedlifedata.com/resource/umls/id/C0000741
xref: http://www.snomedbrowser.com/Codes/Details/180941005
@@ -26484,6 +26537,7 @@
xref: Facial:nerve
xref: FMA:50868
xref: GAID:719
+xref: HBA:7n
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=551 {source="NIF_GrossAnatomy:birnlex_827"}
xref: http://linkedlifedata.com/resource/umls/id/C0015462
xref: http://www.snomedbrowser.com/Codes/Details/362460007
@@ -26544,6 +26598,7 @@
xref: EMAPA:17801
xref: FMA:50869
xref: GAID:839
+xref: HBA:8n
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=553 {source="NIF_GrossAnatomy:birnlex_890"}
xref: http://linkedlifedata.com/resource/umls/id/C0001162
xref: http://linkedlifedata.com/resource/umls/id/C1278835
@@ -26597,6 +26652,7 @@
xref: GAID:827
xref: Glossopharyngeal:Nerve
xref: Glossopharyngeal:nerve
+xref: HBA:9n
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=701 {source="NIF_GrossAnatomy:birnlex_899"}
xref: http://linkedlifedata.com/resource/umls/id/C0017679
xref: http://linkedlifedata.com/resource/umls/id/C1305752
@@ -26647,6 +26703,7 @@
xref: EMAPA:17269
xref: FMA:50871
xref: GAID:828
+xref: HBA:12n
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=704
xref: http://linkedlifedata.com/resource/umls/id/C0020614
xref: http://www.snomedbrowser.com/Codes/Details/362471008
@@ -27895,14 +27952,15 @@
[Term]
id: UBERON:0001697
-name: orbital region
-def: "Anatomical cluster that is a anterolateral part of the cranium and structurally supports the eye. Includes bones formed and located in sclerotic layer of eyeball." [http://en.wikipedia.org/wiki/Orbit_(anatomy), TAO:0001410]
+name: orbit of skull
+def: "Subdivision of skeleton that is an anterolateral part of the cranium and structurally supports the eye. Includes bones formed and located in sclerotic layer of eyeball." [http://en.wikipedia.org/wiki/Orbit_(anatomy), TAO:0001410, UBERON:cjm]
subset: uberon_slim
subset: vertebrate_core
synonym: "bony orbit" EXACT []
synonym: "eye socket" EXACT []
synonym: "orbit" RELATED [ZFA:0001410]
synonym: "orbit of skull" EXACT [FMA:53074]
+synonym: "orbital region" EXACT []
xref: BTO:0004687
xref: FMA:53074
xref: GAID:223
@@ -27917,9 +27975,10 @@
xref: UMLS:C0029180 {source="ncithesaurus:Orbit"}
xref: XAO:0003171
xref: ZFA:0001410
-is_a: UBERON:0000477 ! anatomical cluster
is_a: UBERON:0010313 ! neural crest-derived structure
+is_a: UBERON:0010912 ! subdivision of skeleton
is_a: UBERON:0015212 ! lateral structure
+relationship: part_of UBERON:0004088 ! ocular region
relationship: part_of UBERON:0011156 ! facial skeleton
property_value: external_definition "Anatomical cluster that is a anterolateral part of the cranium and structurally supports the eye.[TAO]" xsd:string
property_value: external_ontology_notes "in FMA, this overlaps with bones such as the maxilla and sphenoid; in ZFA, individual bones are part of the orbit" xsd:string
@@ -27961,6 +28020,7 @@
synonym: "Wrisberg's nerve" EXACT [FMA:53410]
xref: BAMS:imn
xref: BAMS:iVIIn
+xref: DHBA:r7in
xref: FMA:53410
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=552
xref: http://www.snomedbrowser.com/Codes/Details/279927001
@@ -28481,12 +28541,14 @@
xref: BAMS:III
xref: birnlex:1240
xref: BM:MB-III
+xref: DHBA:3N
xref: EFO:0002468
xref: EHDAA2:0004211
xref: EMAPA:35605
xref: EV:0100250
xref: FMA:54510
-xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=492 {source="NIF_GrossAnatomy:birnlex_1240"}
+xref: HBA:3
+xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=492
xref: http://en.wikipedia.org/wiki/Nucleus_of_oculomotor_nerve
xref: http://linkedlifedata.com/resource/umls/id/C0228686
xref: http://www.snomedbrowser.com/Codes/Details/362457000
@@ -28497,9 +28559,9 @@
xref: VHOG:0001389
xref: XAO:0004389
xref: ZFA:0000553
-is_a: UBERON:0003528 ! brain grey matter
is_a: UBERON:0007245 ! nuclear complex of neuraxis
is_a: UBERON:0010314 ! structure with developmental contribution from neural crest
+is_a: UBERON:0019267 ! gray matter of midbrain
relationship: part_of UBERON:0001943 ! midbrain tegmentum
property_value: editor_note "This class was created automatically from a combination of ontologies" xsd:string
property_value: external_definition "The nucleus of the oculomotor nerve (cranial nerve III)[XAO:0004389]." xsd:string
@@ -28563,9 +28625,11 @@
xref: BAMS:Sp5
xref: BAMS:SPV
xref: BM:VSp
+xref: DHBA:Sp5
xref: EMAPA:35885
xref: FMA:54565
xref: GAID:605
+xref: HBA:Sp5
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1732
xref: http://en.wikipedia.org/wiki/Spinal_trigeminal_nucleus
xref: http://linkedlifedata.com/resource/umls/id/C0041000
@@ -28573,6 +28637,7 @@
xref: http://www.snomedbrowser.com/Codes/Details/369033006
xref: MA:0001053
xref: MESH:A08.186.211.132.931.920
+xref: nlx:12995
xref: UMLS:C0041000 {source="ncithesaurus:Nucleus_of_the_Spinal_Tract_of_the_Trigeminal_Nerve"}
xref: VHOG:0001357
is_a: UBERON:0004132 ! trigeminal sensory nucleus
@@ -28607,9 +28672,11 @@
xref: BAMS:MEV
xref: birnlex:1010
xref: BM:Pons-5ME
+xref: DHBA:Me5
xref: EMAPA:35881
xref: EV:0100252
xref: FMA:54568
+xref: HBA:Me5
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=558 {source="NIF_GrossAnatomy:birnlex_1010"}
xref: http://en.wikipedia.org/wiki/Mesencephalic_nucleus_of_trigeminal_nerve
xref: http://linkedlifedata.com/resource/umls/id/C0228702
@@ -28641,10 +28708,12 @@
xref: BAMS:Amb
xref: birnlex:2650
xref: BM:Me-AMB
+xref: DHBA:Amb
xref: EHDAA2:0004305
xref: EMAPA:35596
xref: EV:0100292
xref: FMA:54588
+xref: HBA:Amb
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=765 {source="NIF_GrossAnatomy:birnlex_2650"}
xref: http://linkedlifedata.com/resource/umls/id/C0152400
xref: http://linkedlifedata.com/resource/umls/id/C1281211
@@ -28743,6 +28812,7 @@
xref: BAMS:VMN
xref: BM:Me-VS-VSM
xref: BTO:0004371
+xref: DHBA:MVe
xref: EMAPA:35554
xref: FMA:54611
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=717
@@ -28751,6 +28821,7 @@
xref: http://ncicb.nci.nih.gov/xml/owl/EVS/Medial_Vestibular_Nucleus
xref: http://www.snomedbrowser.com/Codes/Details/280174005
xref: MA:0001048
+xref: PBA:Me
xref: UMLS:C0036385 {source="ncithesaurus:Medial_Vestibular_Nucleus"}
is_a: UBERON:0007228 ! vestibular nucleus
property_value: foaf-depicted_by http://upload.wikimedia.org/wikipedia/commons/d/dc/Lower_pons_horizontal_KB.svg
@@ -29752,6 +29823,7 @@
xref: FMA:5731
xref: GAID:721
xref: galen:VagusNerve
+xref: HBA:10n
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=702
xref: http://linkedlifedata.com/resource/umls/id/C0042276
xref: http://linkedlifedata.com/resource/umls/id/C1305910
@@ -30562,6 +30634,7 @@
xref: EMAPA:17264
xref: FMA:5865
xref: GAID:802
+xref: HBA:CN
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1227
xref: http://linkedlifedata.com/resource/umls/id/C0010268
xref: http://linkedlifedata.com/resource/umls/id/C1269897
@@ -31459,6 +31532,7 @@
xref: VHOG:0001476
is_a: UBERON:0002365 ! exocrine gland
is_a: UBERON:0003297 ! gland of integumental system
+is_a: UBERON:0004121 ! ectoderm-derived structure
is_a: UBERON:0004859 ! eye gland
is_a: UBERON:0015154 ! lateral gland of orbital region
relationship: part_of UBERON:0001750 ! lacrimal apparatus
@@ -32847,6 +32921,7 @@
xref: CALOHA:TS-2007
xref: Cerebral:Hemisphere
xref: Cerebral:hemisphere
+xref: DMBA:Tel
xref: EFO:0002521
xref: EMAPA:16653
xref: FMA:61817
@@ -32881,6 +32956,7 @@
synonym: "gray matter of frontal lobe" EXACT [FMA:242199]
synonym: "grey matter of frontal lobe" EXACT []
xref: BTO:0000484
+xref: DMBA:FCx
xref: EMAPA:35357
xref: FMA:242199
xref: Frontal:lobe
@@ -32908,11 +32984,14 @@
xref: BM:Tel-Cx-Te
xref: BTO:0001355
xref: CALOHA:TS-1020
+xref: DHBA:TemL
+xref: DMBA:TCx
xref: EFO:0000917
xref: EMAPA:18797
xref: EV:0100169
xref: FMA:61825
xref: GAID:635
+xref: HBA:TL
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=125 {source="NIF_GrossAnatomy:birnlex_1160"}
xref: http://linkedlifedata.com/resource/umls/id/C0039485
xref: http://linkedlifedata.com/resource/umls/id/C1268978
@@ -32946,11 +33025,14 @@
xref: birnlex:1148
xref: BTO:0001001
xref: CALOHA:TS-0747
+xref: DHBA:ParL
+xref: DMBA:PCx
xref: EFO:0000914
xref: EMAPA:35667
xref: EV:0100168
xref: FMA:61826
xref: GAID:680
+xref: HBA:PL
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=95 {source="NIF_GrossAnatomy:birnlex_1148"}
xref: http://linkedlifedata.com/resource/umls/id/C0030560
xref: http://ncicb.nci.nih.gov/xml/owl/EVS/Parietal_Lobe_of_the_Brain
@@ -32986,12 +33068,15 @@
xref: CALOHA:TS-0121
xref: Caudate:Nucleus
xref: Caudate:nucleus
+xref: DHBA:Ca
+xref: DMBA:Cau
xref: EFO:0000907
xref: EHDAA2:0004461
xref: EMAPA:18207
xref: EV:0100185
xref: FMA:61833
xref: GAID:670
+xref: HBA:Cd
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=226
xref: http://linkedlifedata.com/resource/umls/id/C0007461
xref: http://www.snomedbrowser.com/Codes/Details/279297002
@@ -32999,6 +33084,7 @@
xref: MAT:0000513
xref: MESH:A08.186.211.730.885.105.487.550.184
xref: OpenCyc:Mx4rvvyAjJwpEbGdrcN5Y29ycA
+xref: PBA:Ca
xref: UMLS:C0007461 {source="NIF_GrossAnatomy:birnlex_1373"}
is_a: UBERON:0009663 ! telencephalic nucleus
relationship: part_of UBERON:0000369 ! corpus striatum
@@ -33021,10 +33107,13 @@
xref: birnlex:809
xref: BM:Tel-Pu
xref: CALOHA:TS-2041
+xref: DHBA:Pu
+xref: DMBA:Put
xref: EMAPA:35719
xref: EV:0100187
xref: FMA:61834
xref: GAID:671
+xref: HBA:Pu
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=230
xref: http://en.wikipedia.org/wiki/Putamen
xref: http://linkedlifedata.com/resource/umls/id/C0034169
@@ -33032,6 +33121,7 @@
xref: http://www.snomedbrowser.com/Codes/Details/281512002
xref: MA:0000895
xref: MESH:A08.186.211.730.885.105.487.550.784
+xref: PBA:Pu
xref: UMLS:C0034169 {source="ncithesaurus:Putamen"}
xref: VHOG:0001456
is_a: UBERON:0009663 ! telencephalic nucleus
@@ -33061,6 +33151,7 @@
xref: birnlex:1234
xref: BTO:0002246
xref: CALOHA:TS-2013
+xref: DHBA:GP
xref: EFO:0000905
xref: EMAPA:35380
xref: EV:0100188
@@ -33068,12 +33159,14 @@
xref: GAID:668
xref: Globus:Pallidus
xref: Globus:pallidus
+xref: HBA:GP
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=231 {source="NIF_GrossAnatomy:birnlex_1234"}
xref: http://linkedlifedata.com/resource/umls/id/C0017651
xref: http://www.snomedbrowser.com/Codes/Details/362361005
xref: MA:0000890
xref: MAT:0000510
xref: MESH:A08.186.211.730.885.105.487.397
+xref: PBA:GP
xref: UMLS:C0017651 {source="NIF_GrossAnatomy:birnlex_1234"}
is_a: UBERON:0009663 ! telencephalic nucleus
relationship: part_of UBERON:0001869 ! cerebral hemisphere
@@ -33111,6 +33204,7 @@
xref: BM:Tel-Am
xref: BTO:0001042
xref: CALOHA:TS-0037
+xref: DHBA:AMY
xref: EFO:0000252
xref: EMAPA:32672
xref: EMAPA:36051
@@ -33118,6 +33212,7 @@
xref: EV:0100190
xref: FMA:61841
xref: GAID:616
+xref: HBA:Amg
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=237 {source="NIF_GrossAnatomy:birnlex_1241"}
xref: http://en.wikipedia.org/wiki/Amygdala
xref: http://linkedlifedata.com/resource/umls/id/C0002708
@@ -33128,6 +33223,7 @@
xref: MESH:A08.186.211.577.090
xref: MIAA:0000289
xref: OpenCyc:Mx4rwJC_2ZwpEbGdrcN5Y29ycA
+xref: PBA:Amy
xref: UMLS:C0002708 {source="NIF_GrossAnatomy:birnlex_1241"}
xref: VHOG:0001277
is_a: UBERON:0002420 ! basal ganglion
@@ -33160,6 +33256,8 @@
xref: birnlex:1668
xref: BM:Tel-Spt-SMN
xref: BTO:0002446
+xref: DHBA:MSN
+xref: DMBA:MS
xref: EMAPA:35553
xref: FMA:61879
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=262
@@ -33187,6 +33285,8 @@
xref: BAMS:SFN
xref: birnlex:730
xref: BM:SFN
+xref: DHBA:SFi
+xref: DMBA:SFi
xref: EMAPA:35767
xref: FMA:61881
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=264 {source="NIF_GrossAnatomy:birnlex_730"}
@@ -33213,10 +33313,11 @@
xref: BAMS:DB
xref: BAMS:NDB
xref: birnlex:719
+xref: DHBA:NDB
xref: EHDAA2:0004708
xref: EMAPA:35598
xref: FMA:61882
-xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=265 {source="NIF_GrossAnatomy:birnlex_719"}
+xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=265
xref: http://en.wikipedia.org/wiki/Nucleus_of_diagonal_band
xref: http://linkedlifedata.com/resource/umls/id/C0175227
xref: http://ncicb.nci.nih.gov/xml/owl/EVS/Nucleus_of_Diagonal_Band
@@ -33256,9 +33357,11 @@
xref: birnlex:724
xref: BM:BNST
xref: BTO:0002698
+xref: DHBA:BNST
xref: EFO:0001971
xref: EMAPA:35169
xref: FMA:61884
+xref: HBA:BST
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=267
xref: http://linkedlifedata.com/resource/umls/id/C0228365
xref: MA:0000925
@@ -33284,6 +33387,7 @@
xref: BAMS:isl
xref: birnlex:1113
xref: BM:Tel-ISC
+xref: DHBA:IsCj
xref: EMAPA:35452
xref: FMA:61888
xref: GAID:632
@@ -33292,6 +33396,7 @@
xref: http://linkedlifedata.com/resource/umls/id/C0262264
xref: MA:0000977
xref: MESH:A08.186.211.577.699.400
+xref: PBA:IsCj
xref: UMLS:C0262264 {source="NIF_GrossAnatomy:birnlex_1113"}
is_a: UBERON:0009663 ! telencephalic nucleus
relationship: part_of UBERON:0001869 ! cerebral hemisphere
@@ -33320,11 +33425,13 @@
xref: birnlex:727
xref: BM:Ac
xref: BTO:0001862
+xref: DHBA:NAC
xref: EFO:0000906
xref: EHDAA2:0004707
xref: EMAPA:32789
xref: FMA:61889
xref: GAID:672
+xref: HBA:Acb
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=277
xref: http://linkedlifedata.com/resource/umls/id/C0028633
xref: http://www.snomedbrowser.com/Codes/Details/427667007
@@ -33332,6 +33439,7 @@
xref: MAT:0000512
xref: MESH:A08.186.211.730.885.105.683
xref: Nucleus:accumbens
+xref: PBA:NAC
xref: UMLS:C0028633 {source="ncithesaurus:Accumbens_Nucleus"}
is_a: UBERON:0009663 ! telencephalic nucleus
relationship: part_of UBERON:0000349 ! limbic system
@@ -33354,12 +33462,14 @@
xref: BAMS:Tu
xref: BM:Tel-OLT
xref: BTO:0001869
+xref: DHBA:OT
xref: EHDAA2:0004701
xref: EMAPA:35616
xref: EV:0100177
xref: MA:0000976
xref: nlx_anat:1005037
xref: Olfactory:tubercle
+xref: PBA:Tu
xref: VHOG:0001625
is_a: UBERON:0009663 ! telencephalic nucleus
relationship: part_of UBERON:0002894 ! olfactory cortex
@@ -33423,10 +33533,12 @@
xref: CALOHA:TS-2388
xref: Dentate:Gyrus
xref: Dentate:gyrus
+xref: DMBA:DG
xref: EFO:0001366
xref: EMAPA:19037
xref: FMA:61922
xref: GAID:624
+xref: HBA:DG
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=179
xref: http://linkedlifedata.com/resource/umls/id/C0152314
xref: http://www.snomedbrowser.com/Codes/Details/279211002
@@ -33502,16 +33614,20 @@
xref: BAMS:int
xref: birnlex:1659
xref: BM:IC
+xref: DHBA:ic
+xref: DMBA:ic
xref: EMAPA:18206
xref: EMAPA:35437
xref: FMA:61950
xref: GAID:685
+xref: HBA:ic
xref: http://linkedlifedata.com/resource/umls/id/C0152341
xref: http://www.snomedbrowser.com/Codes/Details/85637007
xref: Internal:Capsule
xref: Internal:capsule
xref: MA:0002748
xref: MESH:A08.186.211.730.885.435
+xref: PBA:ic
xref: UMLS:C0152341 {source="ncithesaurus:Internal_Capsule"}
is_a: UBERON:0002437 ! cerebral hemisphere white matter
relationship: part_of UBERON:0001869 ! cerebral hemisphere
@@ -33542,8 +33658,11 @@
xref: BAMS:LOTR
xref: birnlex:1559
xref: BM:Tel-LOT
+xref: DHBA:lost
+xref: DMBA:lot
xref: EV:0100175
xref: FMA:61971
+xref: HBA:lot
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=284 {source="NIF_GrossAnatomy:birnlex_1559"}
xref: http://en.wikipedia.org/wiki/Lateral_olfactory_stria
xref: http://linkedlifedata.com/resource/umls/id/C0152330
@@ -33586,6 +33705,8 @@
xref: birnlex:1509
xref: BTO:0000478
xref: CALOHA:TS-0380
+xref: DHBA:F
+xref: DMBA:F
xref: EFO:0000909
xref: EHDAA:3470
xref: EHDAA2:0000556
@@ -33634,12 +33755,15 @@
xref: BM:MB
xref: BTO:0000138
xref: CALOHA:TS-0630
+xref: DHBA:M
+xref: DMBA:M
xref: EFO:0000919
xref: EHDAA:3694
xref: EHDAA2:0001162
xref: EMAPA:16974
xref: EV:0100242
xref: FMA:61993
+xref: HBA:MES
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=462 {source="NIF_GrossAnatomy:birnlex_1667"}
xref: http://en.wikipedia.org/wiki/Midbrain
xref: http://linkedlifedata.com/resource/umls/id/C0025462
@@ -33673,14 +33797,18 @@
id: UBERON:0001892
name: rhombomere
def: "A segment of the developing hindbrain[ZFA]. In the vertebrate embryo, a rhombomere is a transiently divided segment of the developing neural tube, within the hindbrain region (a neuromere) in the area that will eventually become the rhombencephalon. The rhombomeres appear as a series of slightly constricted swellings in the neural tube, caudal to the cephalic flexure.[WP]." [http://en.wikipedia.org/wiki/Rhombomere, ZFIN:curator]
+comment: AO notes: DHBA divides this into A(1-3),B(4),C(5-7) and D(8)
subset: efo_slim
subset: uberon_slim
subset: vertebrate_core
synonym: "future rhombencephalon" RELATED [MIAA:0000272]
+synonym: "hindbrain neuromere" EXACT []
+synonym: "hindbrain neuromeres" EXACT PLURAL [DHBA:HNM]
synonym: "hindbrain segment" BROAD [ZFA:0001064]
synonym: "rhombomere" EXACT []
synonym: "rhombomeres" RELATED PLURAL [VHOG:0000672]
synonym: "segment of hindbrain" BROAD [ZFA:0001064]
+xref: DHBA:HNM
xref: EFO:0003617
xref: EMAPA:16148
xref: EMAPA:16478
@@ -33721,6 +33849,7 @@
xref: BM:Tel
xref: BTO:0000239
xref: CALOHA:TS-1018
+xref: DHBA:Tel
xref: EFO:0000912
xref: EHDAA2:0001982
xref: EMAPA:16652
@@ -33728,6 +33857,7 @@
xref: EV:0100165
xref: FMA:62000
xref: GAID:621
+xref: HBA:Tel
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=31 {source="NIF_GrossAnatomy:birnlex_1115"}
xref: http://en.wikipedia.org/wiki/Telencephalon
xref: http://linkedlifedata.com/resource/umls/id/C0039452
@@ -33736,6 +33866,7 @@
xref: MAT:0000421
xref: MESH:A08.186.211.730.885
xref: MIAA:0000421
+xref: PBA:Tel
xref: TAO:0000079
xref: UMLS:C0039452 {source="NIF_GrossAnatomy:birnlex_1115"}
xref: VHOG:0000283
@@ -33786,6 +33917,8 @@
xref: BM:Die
xref: BTO:0000342
xref: CALOHA:TS-0199
+xref: DHBA:Die
+xref: DMBA:D
xref: EFO:0000911
xref: EHDAA:1969
xref: EHDAA:2645
@@ -33796,6 +33929,7 @@
xref: EV:0100194
xref: FMA:62001
xref: GAID:618
+xref: HBA:DiE
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=288 {source="NIF_GrossAnatomy:birnlex_1503"}
xref: http://en.wikipedia.org/wiki/Diencephalon
xref: http://linkedlifedata.com/resource/umls/id/C0012144
@@ -33806,6 +33940,7 @@
xref: MESH:A08.186.211.730.385
xref: MIAA:0000420
xref: OpenCyc:Mx4rwC-V0JwpEbGdrcN5Y29ycA
+xref: PBA:Die
xref: TAO:0000101
xref: UMLS:C0012144 {source="NIF_GrossAnatomy:birnlex_1503"}
xref: VHOG:0000318
@@ -33835,11 +33970,13 @@
xref: birnlex:965
xref: BTO:0000673
xref: CALOHA:TS-2029
+xref: DHBA:Met
xref: EHDAA:5498
xref: EHDAA2:0001149
xref: EMAPA:17071
xref: FMA:62003
xref: GAID:594
+xref: HBA:MET
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=543 {source="NIF_GrossAnatomy:birnlex_965"}
xref: http://en.wikipedia.org/wiki/Metencephalon
xref: http://linkedlifedata.com/resource/umls/id/C0376353
@@ -33884,6 +34021,7 @@
xref: BM:Me
xref: BTO:0000041
xref: CALOHA:TS-0607
+xref: DMBA:MH
xref: EFO:0000924
xref: EHDAA:7588
xref: EHDAA2:0001088
@@ -33941,11 +34079,14 @@
xref: birnlex:954
xref: BTO:0001365
xref: CALOHA:TS-1031
+xref: DHBA:THM
+xref: DMBA:Th
xref: EFO:0000910
xref: EMAPA:17540
xref: EV:0100195
xref: GAID:656
xref: galen:Thalamus
+xref: HBA:TH
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=300
xref: http://en.wikipedia.org/wiki/Thalamus
xref: http://linkedlifedata.com/resource/umls/id/C0039729
@@ -33956,6 +34097,7 @@
xref: MESH:A08.186.211.730.385.826
xref: MIAA:0000109
xref: OpenCyc:Mx4rwMPQ65wpEbGdrcN5Y29ycA
+xref: PBA:Thal
xref: TAO:0001215
xref: UMLS:C0039729 {source="NIF_GrossAnatomy:birnlex_954"}
xref: VHOG:0000657
@@ -33989,6 +34131,7 @@
xref: BM:Die-Hy
xref: BTO:0000614
xref: CALOHA:TS-0469
+xref: DHBA:HTH
xref: EFO:0000107
xref: EHDAA:5446
xref: EHDAA2:0000802
@@ -33997,6 +34140,7 @@
xref: FMA:62008
xref: GAID:460
xref: galen:Hypothalamus
+xref: HBA:Hy
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=292
xref: http://en.wikipedia.org/wiki/Hypothalamus
xref: http://linkedlifedata.com/resource/umls/id/C0020663
@@ -34044,6 +34188,7 @@
xref: BM:Die-Epi
xref: BTO:0000175
xref: CALOHA:TS-2060
+xref: DHBA:ETH
xref: EFO:0000918
xref: EHDAA:5433
xref: EHDAA2:0000448
@@ -34051,6 +34196,7 @@
xref: EV:0100220
xref: FMA:62009
xref: GAID:455
+xref: HBA:ET
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=292
xref: http://en.wikipedia.org/wiki/Epithalamus
xref: http://linkedlifedata.com/resource/umls/id/C0152361
@@ -34061,6 +34207,7 @@
xref: MESH:A08.186.211.577.200
xref: MIAA:0000422
xref: OpenCyc:Mx4rvneLQpwpEbGdrcN5Y29ycA
+xref: PBA:ETh
xref: TAO:0000509
xref: UMLS:C0152361 {source="NIF_GrossAnatomy:birnlex_1710"}
xref: VHOG:0000178
@@ -34097,11 +34244,14 @@
xref: birnlex:708
xref: BM:Die-VTh
xref: CALOHA:TS-2048
+xref: DHBA:VTH
+xref: DMBA:PTh
xref: EHDAA2:0004470
xref: EMAPA:35915
xref: EV:0100223
xref: FMA:62010
xref: GAID:653
+xref: HBA:VT
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=434 {source="NIF_GrossAnatomy:birnlex_708"}
xref: http://en.wikipedia.org/wiki/Subthalamus
xref: http://linkedlifedata.com/resource/umls/id/C0152349
@@ -34205,6 +34355,7 @@
xref: BAMS:Rt
xref: birnlex:1721
xref: BM:Die-VTh-R
+xref: DHBA:R
xref: EMAPA:35737
xref: EV:0100214
xref: FMA:62026
@@ -34237,10 +34388,12 @@
xref: BAMS:Hb
xref: birnlex:1611
xref: BTO:0003684
+xref: DHBA:HN
xref: EMAPA:35386
xref: EV:0100222
xref: FMA:62032
xref: GAID:619
+xref: HBA:Hb
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=294 {source="NIF_GrossAnatomy:birnlex_1611"}
xref: http://en.wikipedia.org/wiki/Habenula
xref: http://linkedlifedata.com/resource/umls/id/C0152362
@@ -34287,6 +34440,7 @@
xref: BM:P
xref: BTO:0001067
xref: CALOHA:TS-0789
+xref: DHBA:Pin
xref: EFO:0000865
xref: EHDAA:7523
xref: EHDAA2:0001466
@@ -34296,6 +34450,7 @@
xref: FMA:62033
xref: GAID:453
xref: galen:PinealGland
+xref: HBA:PIN
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=297 {source="NIF_GrossAnatomy:birnlex_1184"}
xref: http://linkedlifedata.com/resource/umls/id/C0031939
xref: http://www.snomedbrowser.com/Codes/Details/181126002
@@ -34351,6 +34506,7 @@
xref: BM:Die-Sb
xref: BTO:0002252
xref: CALOHA:TS-1154
+xref: DHBA:STH
xref: EFO:0001392
xref: EMAPA:35839
xref: EV:0100224
@@ -34385,6 +34541,7 @@
xref: BAMS:ZI
xref: BM:Die-VTh-ZI
xref: BTO:0003146
+xref: DHBA:ZI
xref: EMAPA:35930
xref: FMA:62038
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=438
@@ -34407,6 +34564,8 @@
xref: BAMS:opt
xref: birnlex:1684
xref: BM:Tel-OT
+xref: DHBA:ot
+xref: DMBA:opt
xref: EMAPA:16678
xref: EMAPA:35617
xref: FMA:62046
@@ -34449,8 +34608,11 @@
xref: BAMS:HG
xref: birnlex:1609
xref: BM:Die-Epi-HC
+xref: DHBA:hac
+xref: DMBA:hbc
xref: FMA:62048
xref: Habenular:commissure
+xref: HBA:hbc
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=299
xref: http://linkedlifedata.com/resource/umls/id/C0152363
xref: http://www.snomedbrowser.com/Codes/Details/279335009
@@ -34480,8 +34642,10 @@
synonym: "telencephalic medial fasciculus" EXACT []
xref: BAMS:mfb
xref: birnlex:908
+xref: DHBA:mfb
xref: FMA:62064
xref: GAID:736
+xref: HBA:mfb
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=433
xref: http://en.wikipedia.org/wiki/Medial_forebrain_bundle
xref: http://linkedlifedata.com/resource/umls/id/C0025055
@@ -34736,8 +34900,10 @@
xref: birnlex:764
xref: BM:Die-Th-Pa
xref: BTO:0002460
+xref: DHBA:PaV
xref: EMAPA:35666
xref: FMA:62152
+xref: HBA:Pa
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=308 {source="NIF_GrossAnatomy:birnlex_764"}
xref: http://linkedlifedata.com/resource/umls/id/C0175253
xref: http://www.snomedbrowser.com/Codes/Details/369163000
@@ -34766,6 +34932,7 @@
xref: BAMS:Re
xref: birnlex:770
xref: BTO:0002459
+xref: DHBA:Re
xref: EMAPA:35602
xref: FMA:62153
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=309 {source="NIF_GrossAnatomy:birnlex_770"}
@@ -34793,9 +34960,12 @@
xref: BAMS:PF
xref: birnlex:952
xref: BM:Die-Th-Pf
+xref: DHBA:Pf
+xref: DMBA:PF
xref: EMAPA:35659
xref: EV:0100202
xref: FMA:62166
+xref: HBA:pf
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=324
xref: http://linkedlifedata.com/resource/umls/id/C0228352
xref: http://ncicb.nci.nih.gov/xml/owl/EVS/Parafascicular_Nucleus_of_the_Thalamus
@@ -34825,12 +34995,15 @@
xref: birnlex:971
xref: BM:Die-CeM
xref: BTO:0003753
+xref: DHBA:CeM
xref: EMAPA:35206
xref: FMA:62171
+xref: HBA:CM
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=321 {source="NIF_GrossAnatomy:birnlex_971"}
xref: http://linkedlifedata.com/resource/umls/id/C0920328
xref: http://www.snomedbrowser.com/Codes/Details/279161000
xref: MA:0000872
+xref: PBA:CM
xref: UMLS:C0920328 {source="NIF_GrossAnatomy:birnlex_971"}
is_a: UBERON:0015233 ! nucleus of dorsal thalamus
relationship: part_of UBERON:0002965 ! rostral intralaminar nuclear group
@@ -34857,9 +35030,12 @@
xref: BAMS:PCN
xref: birnlex:981
xref: BM:Die-Th-Pc
+xref: DHBA:PC
+xref: DMBA:PC
xref: EMAPA:35658
xref: EV:0100204
xref: FMA:62172
+xref: HBA:Pc
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=322 {source="NIF_GrossAnatomy:birnlex_981"}
xref: http://linkedlifedata.com/resource/umls/id/C0228354
xref: http://www.snomedbrowser.com/Codes/Details/279152000
@@ -34898,6 +35074,8 @@
xref: birnlex:1237
xref: BM:Die-Th-VL
xref: BTO:0002463
+xref: DHBA:VL
+xref: DMBA:VL
xref: FMA:62186
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=337 {source="NIF_GrossAnatomy:birnlex_1237"}
xref: http://en.wikipedia.org/wiki/Ventral_lateral_nucleus
@@ -34938,6 +35116,7 @@
xref: birnlex:1662
xref: BTO:0004366
xref: BTO:0004367
+xref: DHBA:LG
xref: EFO:0001988
xref: EMAPA:35478
xref: EV:0100219
@@ -34948,6 +35127,7 @@
xref: http://ncicb.nci.nih.gov/xml/owl/EVS/External_Geniculate_Body
xref: http://www.snomedbrowser.com/Codes/Details/362377006
xref: MA:0000869
+xref: PBA:LGN
xref: UMLS:C0086526 {source="ncithesaurus:External_Geniculate_Body"}
is_a: UBERON:0015233 ! nucleus of dorsal thalamus
relationship: part_of UBERON:0002704 ! metathalamus
@@ -34979,10 +35159,13 @@
xref: birnlex:1670
xref: BM:Die-Th-MG
xref: BTO:0002674
+xref: DHBA:MG
+xref: DMBA:MG
xref: EFO:0001968
xref: EMAPA:35546
xref: EV:0100218
xref: FMA:62211
+xref: HBA:MG
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=355
xref: http://en.wikipedia.org/wiki/Medial_geniculate_body
xref: http://linkedlifedata.com/resource/umls/id/C0086596
@@ -35019,9 +35202,11 @@
xref: BM:Die-Hy-POA
xref: BTO:0001796
xref: CALOHA:TS-0822
+xref: DMBA:PO
xref: EFO:0002523
xref: FMA:62313
xref: GAID:644
+xref: HBA:PrOR
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=377
xref: http://linkedlifedata.com/resource/umls/id/C0033063
xref: http://linkedlifedata.com/resource/umls/id/C1284641
@@ -35062,11 +35247,14 @@
xref: birnlex:1411
xref: BM:Die-Hy-SON
xref: BTO:0002697
+xref: DHBA:SO
+xref: DMBA:SO
xref: EFO:0002476
xref: EMAPA:35843
xref: EV:0100227
xref: FMA:62317
xref: GAID:646
+xref: HBA:SO
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=385 {source="NIF_GrossAnatomy:birnlex_1411"}
xref: http://linkedlifedata.com/resource/umls/id/C0038869
xref: http://www.snomedbrowser.com/Codes/Details/369130007
@@ -35108,11 +35296,13 @@
xref: birnlex:1407
xref: BM:Die-Hy-PAH
xref: BTO:0002476
+xref: DHBA:PV
xref: EFO:0002469
xref: EMAPA:35665
xref: EV:0100229
xref: FMA:62320
xref: GAID:643
+xref: HBA:PVH
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=387 {source="NIF_GrossAnatomy:birnlex_1407"}
xref: http://en.wikipedia.org/wiki/Paraventricular_nucleus_of_hypothalamus
xref: http://linkedlifedata.com/resource/umls/id/C0030532
@@ -35143,8 +35333,10 @@
xref: BAMS:LPO
xref: birnlex:1722
xref: BM:Die-Hy-LPO
+xref: DHBA:LPA
xref: EMAPA:35483
xref: FMA:62326
+xref: HBA:LPO
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=381
xref: http://linkedlifedata.com/resource/umls/id/C0175312
xref: http://linkedlifedata.com/resource/umls/id/C1289556
@@ -35190,10 +35382,12 @@
xref: BM:HAr
xref: BTO:0002473
xref: BTO:0005534
+xref: DHBA:Arc
xref: EMAPA:35142
xref: EV:0100230
xref: FMA:62329
xref: GAID:647
+xref: HBA:ARH
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=395 {source="NIF_GrossAnatomy:birnlex_1638"}
xref: http://linkedlifedata.com/resource/umls/id/C0003741
xref: MA:0000847
@@ -35253,10 +35447,12 @@
xref: birnlex:1558
xref: BM:Die-Hy-DMH
xref: BTO:0002474
+xref: DHBA:DMH
xref: EMAPA:35297
xref: EV:0100232
xref: FMA:62331
xref: GAID:648
+xref: HBA:DMH
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=397 {source="NIF_GrossAnatomy:birnlex_1558"}
xref: http://en.wikipedia.org/wiki/Dorsomedial_hypothalamic_nucleus
xref: http://linkedlifedata.com/resource/umls/id/C0013055
@@ -35292,10 +35488,13 @@
xref: birnlex:1572
xref: BM:VMH
xref: BTO:0002472
+xref: DHBA:VMH
+xref: DMBA:VMH
xref: EMAPA:35916
xref: EV:0100233
xref: FMA:62332
xref: GAID:650
+xref: HBA:VMH
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=398 {source="NIF_GrossAnatomy:birnlex_1572"}
xref: http://en.wikipedia.org/wiki/Ventromedial_hypothalamic_nucleus
xref: http://linkedlifedata.com/resource/umls/id/C0042518
@@ -35328,9 +35527,11 @@
xref: ABA:TM
xref: BAMS:TM
xref: birnlex:1271
+xref: DHBA:TM
xref: EMAPA:35889
xref: EV:0100237
xref: FMA:62335
+xref: HBA:TM
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=427 {source="NIF_GrossAnatomy:birnlex_1271"}
xref: http://linkedlifedata.com/resource/umls/id/C0228377
xref: http://linkedlifedata.com/resource/umls/id/C1289549
@@ -35382,9 +35583,12 @@
xref: ABA:LM
xref: BAMS:LM
xref: birnlex:1460
+xref: DHBA:LM
+xref: DMBA:LM
xref: EMAPA:35481
xref: EV:0100239
xref: FMA:62341
+xref: HBA:LM
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=413 {source="NIF_GrossAnatomy:birnlex_1460"}
xref: http://linkedlifedata.com/resource/umls/id/C0152357
xref: http://linkedlifedata.com/resource/umls/id/C1289570
@@ -35410,9 +35614,12 @@
xref: BAMS:MM
xref: BAMS:MMg
xref: birnlex:1299
+xref: DHBA:MM
+xref: DMBA:MM
xref: EMAPA:35548
xref: EV:0100238
xref: FMA:62342
+xref: HBA:MM
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=376 {source="NIF_GrossAnatomy:birnlex_1299"}
xref: http://linkedlifedata.com/resource/umls/id/C0175329
xref: http://linkedlifedata.com/resource/umls/id/C1289568
@@ -35435,8 +35642,10 @@
xref: BAMS:SUM
xref: BAMS:SuM
xref: birnlex:1479
+xref: DHBA:SUM
xref: EMAPA:35842
xref: FMA:62347
+xref: HBA:SuM
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=418
xref: http://linkedlifedata.com/resource/umls/id/C0228378
xref: http://linkedlifedata.com/resource/umls/id/C1289571
@@ -35464,6 +35673,7 @@
xref: birnlex:1438
xref: BM:Die-Epi-Hl
xref: BTO:0002699
+xref: DHBA:LHN
xref: EMAPA:35479
xref: FMA:62372
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=295 {source="NIF_GrossAnatomy:birnlex_1438"}
@@ -35495,6 +35705,8 @@
xref: birnlex:1431
xref: BM:Die-Epi-HM
xref: BTO:0003686
+xref: DHBA:MHN
+xref: DMBA:MHb
xref: EMAPA:35547
xref: FMA:62373
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=294
@@ -35522,10 +35734,12 @@
xref: BAMS:MTg
xref: birnlex:1200
xref: BTO:0003388
+xref: DHBA:MTg
xref: EFO:0000921
xref: EHDAA2:0004475
xref: EMAPA:18215
xref: FMA:62393
+xref: HBA:MTg
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=491
xref: http://linkedlifedata.com/resource/umls/id/C0039441
xref: http://www.snomedbrowser.com/Codes/Details/362392007
@@ -35568,8 +35782,11 @@
xref: BAMS:PTec
xref: birnlex:703
xref: BM:MB-Tec-PT
+xref: DHBA:PTR
+xref: DMBA:Pt
xref: EMAPA:32778
xref: FMA:62402
+xref: HBA:PTec
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=467 {source="NIF_GrossAnatomy:birnlex_703"}
xref: http://en.wikipedia.org/wiki/Pretectum
xref: http://linkedlifedata.com/resource/umls/id/C0175354
@@ -35618,11 +35835,14 @@
xref: birnlex:1040
xref: BM:MB-Tec-SC
xref: BTO:0000965
+xref: DHBA:SC
+xref: DMBA:SC
xref: EFO:0002474
xref: EMAPA:32869
xref: EV:0100245
xref: FMA:62403
xref: GAID:576
+xref: HBA:SC
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=473 {source="NIF_GrossAnatomy:birnlex_1040"}
xref: http://linkedlifedata.com/resource/umls/id/C0228405
xref: MA:0001068
@@ -35659,11 +35879,14 @@
xref: ABA:IC
xref: BAMS:IC
xref: birnlex:806
+xref: DHBA:IC
+xref: DMBA:IC
xref: EFO:0002465
xref: EMAPA:32870
xref: EV:0100246
xref: FMA:62404
xref: GAID:575
+xref: HBA:IC
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=476
xref: http://linkedlifedata.com/resource/umls/id/C0228411
xref: Inferior:colliculus
@@ -35694,11 +35917,13 @@
xref: BAMS:RN
xref: birnlex:1478
xref: BM:MB-RN
+xref: DHBA:RN
xref: EHDAA2:0004706
xref: EMAPA:35724
xref: EV:0100248
xref: FMA:62407
xref: GAID:586
+xref: HBA:RN
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=505
xref: http://linkedlifedata.com/resource/umls/id/C0034910
xref: http://www.snomedbrowser.com/Codes/Details/279287006
@@ -35782,6 +36007,7 @@
xref: http://linkedlifedata.com/resource/umls/id/C0175173
xref: MA:0002754
xref: MESH:A08.186.211.730.885.213.420
+xref: PBA:NCx
xref: UMLS:C0175173 {source="NIF_GrossAnatomy:birnlex_2547"}
is_a: UBERON:0002619 ! regional part of cerebral cortex
relationship: part_of UBERON:0000956 ! cerebral cortex
@@ -35859,6 +36085,7 @@
xref: BAMS:PrS
xref: birnlex:1108
xref: BM:Tel-Cx-PSB
+xref: DMBA:PrS
xref: EMAPA:35703
xref: FMA:62486
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=167 {source="NIF_GrossAnatomy:birnlex_1108"}
@@ -35900,6 +36127,7 @@
xref: BTO:0003705
xref: CALOHA:TS-0460
xref: Cornu:Ammonis
+xref: DHBA:Hipp
xref: EFO:0000530
xref: EHDAA2:0004443
xref: EMAPA:32772
@@ -35918,6 +36146,7 @@
xref: MESH:A08.186.211.577.405
xref: MIAA:0000114
xref: OpenCyc:Mx4rv3piFJwpEbGdrcN5Y29ycA
+xref: PBA:Hip
xref: UMLS:C0019564 {source="NIF_GrossAnatomy:birnlex_721"}
xref: VHOG:0001177
is_a: UBERON:0002791 ! regional part of telencephalon
@@ -36172,8 +36401,10 @@
xref: birnlex:990
xref: BM:MB-SNc
xref: BTO:0003749
+xref: DHBA:SNC
xref: EMAPA:35836
xref: FMA:62907
+xref: HBA:SNC
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=537
xref: http://en.wikipedia.org/wiki/Substantia_nigra_pars_compacta
xref: http://linkedlifedata.com/resource/umls/id/C0175412
@@ -36211,8 +36442,10 @@
xref: birnlex:968
xref: BM:MB-SNr
xref: BTO:0003750
+xref: DHBA:SNR
xref: EMAPA:35838
xref: FMA:62908
+xref: HBA:SNR
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=537
xref: http://linkedlifedata.com/resource/umls/id/C0175413
xref: MA:0001066
@@ -37662,6 +37895,7 @@
xref: FMA:6720
xref: FMA:80284
xref: GAID:825
+xref: HBA:11nf
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2085
xref: http://en.wikipedia.org/wiki/Spinal_accessory_nerve
xref: http://linkedlifedata.com/resource/umls/id/C0000905
@@ -37705,6 +37939,7 @@
xref: FMA:67242
xref: Gray:Matter
xref: Gray:matter
+xref: HBA:GM
xref: http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2869
xref: http://linkedlifedata.com/resource/umls/id/C0018220
xr...
[truncated message content] |
|
From: <cmu...@us...> - 2014-11-02 21:16:05
|
Revision: 5221
http://sourceforge.net/p/obo/svn/5221
Author: cmungall
Date: 2014-11-02 21:15:49 +0000 (Sun, 02 Nov 2014)
Log Message:
-----------
mv
Added Paths:
-----------
uberon/trunk/composite-brain.obo
Removed Paths:
-------------
uberon/trunk/composite-aba.obo
Deleted: uberon/trunk/composite-aba.obo
===================================================================
--- uberon/trunk/composite-aba.obo 2014-10-31 10:58:25 UTC (rev 5220)
+++ uberon/trunk/composite-aba.obo 2014-11-02 21:15:49 UTC (rev 5221)
@@ -1,268604 +0,0 @@
-format-version: 1.2
-subsetdef: cumbo "CUMBO"
-subsetdef: cyclostome_subset "cyclostome structures"
-subsetdef: defined_by_ordinal_series "classes that are defined by relative position counting from first in a series of elements along an axis in an individual organism rather than by strict homology"
-subsetdef: developmental_classification "developmental_classification"
-subsetdef: disjointness_axiom_removed "A class which has a weakened disjointness axiom, to avoid inconsistency. These are kept separately in the uberon_disjoint_from_strict ontology."
-subsetdef: dubious_grouping "Indicates that subclasses in AOs may be inappropriately linked"
-subsetdef: early_development "A class that represents an early developmental structure, like a blastocyst. This part of the ontology is undergoing review to remove inappropriate grouping classes."
-subsetdef: efo_slim "EFO slim"
-subsetdef: emapa_ehdaa2 "derived from the union of EHDAA2 and EMAPA - still to be checked"
-subsetdef: feed_aligned "subset of classes that have logical defs text defs and synonyms aligned with FEED"
-subsetdef: functional_classification "functional_classification"
-subsetdef: grouping_class "Subset consisting of classes creating for grouping purposes"
-subsetdef: inconsistent_with_fma "classes that have some inconsistency with FMA"
-subsetdef: loose_concept "loose concept"
-subsetdef: major_organ "somewhat fuzzy grouping for analysis purposes, currently composed of something like: liver, heart, skeletal, kidney, bladder, brain, skin, mouth, esophagus, stomach, small intestine, large intestines, trachea nose, lungs, brain, spinal cord, peripheral nerves, kidneys, ureters, bladder, urethra, gonads"
-subsetdef: metazoa_core "core classes typically found across metazoa. one purpose is to create a rough set of terms that could be used to start a new metazoan AO. Note this subset is not yet fully fleshed out"
-subsetdef: non_informative "abstract class brought in to group ontology classes but not informative"
-subsetdef: organ_slim "organs, excluding individual muscles and skeletal elements"
-subsetdef: phenotype_rcn "A subset specifically created for the 2012 Phenotype RCN meeting. Includes some human-specific terms that may eventually be removed when they are adequately represented with part of relationships in FMA"
-subsetdef: uberon_slim "Uberon slim - somewhat arbitrary subset that excludes obscure terms and deep compositional terms"
-subsetdef: ubprop:upper_level "abstract upper-level terms not directly useful for analysis"
-subsetdef: unverified_taxonomic_grouping "Indicates that the class encompasses classes from other AOs that have not been verified"
-subsetdef: upper_level "abstract upper-level terms not directly useful for analysis"
-subsetdef: upper_ontology_conflict "Terms in this subset group together terms from different anatomy ontologies that have conflicting upper ontology/CARO assignments. For example, in FMA the naris is immaterial and in ZFA it is an organism subdivision."
-subsetdef: vertebrate_core "core classes typically found across vertebrates. one purpose is to create a rough set of terms that could be used to start a new vertebrate AO"
-subsetdef: vessel_or_tree "A term classified differently in FMA due to its treatment of branching structures - to be reviewed and revised by editors"
-synonymtypedef: ABBREVIATION "abbreviation"
-synonymtypedef: COMPARATIVE_PREFERRED "preferred term in the context of comparative anatomy"
-synonymtypedef: DEPRECATED "A historic synonym, no longer encouraged"
-synonymtypedef: DEVELOPMENTAL "developmental term"
-synonymtypedef: DUBIOUS "dubious or contested synonym"
-synonymtypedef: HOMOLOGY "a synonym made on the basis of a possibly homologous structure in another species"
-synonymtypedef: HUMAN_PREFERRED "preferred term when talking about an instance of this class in Homo sapiens"
-synonymtypedef: INCONSISTENT "indicates that a synonym is used in an inconsistent or confusing way, typically between species"
-synonymtypedef: LATIN "latin term"
-synonymtypedef: NON_AMNIOTE "synonym that is inappropriate for amniotes"
-synonymtypedef: NON_MAMMAL "synonym that is inappropriate for mammals"
-synonymtypedef: PENDING_REVIEW "expert consultation and attribution required"
-synonymtypedef: PLURAL "plural term"
-synonymtypedef: SENSU "taxonomic disambiguation"
-remark: Includes Ontology(OntologyID(Anonymous-3)) [Axioms: 0 Logical Axioms: 0]
-remark: Includes Ontology(OntologyID(OntologyIRI(<http://purl.obolibrary.org/obo/uberon/bridge/aba.owl>))) [Axioms: 8934 Logical Axioms: 4352]
-remark: Includes Ontology(OntologyID(OntologyIRI(<http://purl.obolibrary.org/obo/uberon/bridge/uberon-bridge-to-aba.owl>) VersionIRI(<http://purl.obolibrary.org/obo/uberon/bridge/uberon-bridge-to-aba/2014-10-30/uberon/bridge/uberon-bridge-to-aba.owl>))) [Axioms: 1679 Logical Axioms: 315]
-remark: Includes Ontology(OntologyID(OntologyIRI(<http://purl.obolibrary.org/obo/uberon/merged.owl>) VersionIRI(<http://purl.obolibrary.org/obo/uberon/releases/2014-10-30/merged.owl>))) [Axioms: 236941 Logical Axioms: 51298]
-ontology: uberon/composite-aba
-
-[Term]
-id: ABA:A13
-name: Dopaminergic A13 group (mouse brain)
-namespace: aba
-is_a: UBERON:0003048 ! regional part of hypothalamus
-relationship: part_of UBERON:0001907 ! zona incerta
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/A13.html xsd:string
-
-[Term]
-id: ABA:ABAMouse
-name: Allen Brain Atlas Adult Mouse Ontology
-namespace: aba
-is_a: UBERON:0000481 ! multi-tissue structure
-relationship: part_of ABA:structure_graphs
-
-[Term]
-id: ABA:ACA
-name: Anterior cingulate area (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of UBERON:0001950 ! neocortex
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACA.html xsd:string
-
-[Term]
-id: ABA:ACA1
-name: Anterior cingulate area, layer 1 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:ACA ! Anterior cingulate area (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACA1.html xsd:string
-
-[Term]
-id: ABA:ACA2-3
-name: Anterior cingulate area, layer 2/3 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:ACA ! Anterior cingulate area (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACA2%2F3.html xsd:string
-
-[Term]
-id: ABA:ACA5
-name: Anterior cingulate area, layer 5 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:ACA ! Anterior cingulate area (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACA5.html xsd:string
-
-[Term]
-id: ABA:ACA6a
-name: Anterior cingulate area, layer 6a (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:ACA ! Anterior cingulate area (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACA6a.html xsd:string
-
-[Term]
-id: ABA:ACA6b
-name: Anterior cingulate area, layer 6b (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:ACA ! Anterior cingulate area (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACA6b.html xsd:string
-
-[Term]
-id: ABA:ACAd
-name: Anterior cingulate area, dorsal part (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:ACA ! Anterior cingulate area (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACAd.html xsd:string
-
-[Term]
-id: ABA:ACAd1
-name: Anterior cingulate area, dorsal part, layer 1 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:ACAd ! Anterior cingulate area, dorsal part (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACAd1.html xsd:string
-
-[Term]
-id: ABA:ACAd2-3
-name: Anterior cingulate area, dorsal part, layer 2/3 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:ACAd ! Anterior cingulate area, dorsal part (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACAd2%2F3.html xsd:string
-
-[Term]
-id: ABA:ACAd5
-name: Anterior cingulate area, dorsal part, layer 5 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:ACAd ! Anterior cingulate area, dorsal part (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACAd5.html xsd:string
-
-[Term]
-id: ABA:ACAd6a
-name: Anterior cingulate area, dorsal part, layer 6a (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:ACAd ! Anterior cingulate area, dorsal part (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACAd6a.html xsd:string
-
-[Term]
-id: ABA:ACAd6b
-name: Anterior cingulate area, dorsal part, layer 6b (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:ACAd ! Anterior cingulate area, dorsal part (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACAd6b.html xsd:string
-
-[Term]
-id: ABA:ACAv
-name: Anterior cingulate area, ventral part (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:ACA ! Anterior cingulate area (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACAv.html xsd:string
-
-[Term]
-id: ABA:ACAv1
-name: Anterior cingulate area, ventral part, layer 1 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:ACAv ! Anterior cingulate area, ventral part (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACAv1.html xsd:string
-
-[Term]
-id: ABA:ACAv2-3
-name: Anterior cingulate area, ventral part, layer 2/3 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:ACAv ! Anterior cingulate area, ventral part (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACAv2%2F3.html xsd:string
-
-[Term]
-id: ABA:ACAv5
-name: Anterior cingulate area, ventral part, layer 5 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:ACAv ! Anterior cingulate area, ventral part (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACAv5.html xsd:string
-
-[Term]
-id: ABA:ACAv6a
-name: Anterior cingulate area, ventral part, layer 6a (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:ACAv ! Anterior cingulate area, ventral part (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACAv6a.html xsd:string
-
-[Term]
-id: ABA:ACAv6b
-name: Anterior cingulate area, ventral part, layer 6b (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:ACAv ! Anterior cingulate area, ventral part (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACAvb.html xsd:string
-
-[Term]
-id: ABA:ACVI
-name: Accessory abducens nucleus (mouse brain)
-namespace: aba
-is_a: UBERON:0002678 ! regional part of medulla oblongata
-relationship: part_of ABA:MY-mot ! Medulla, motor related (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACVI.html xsd:string
-
-[Term]
-id: ABA:ACVII
-name: Accessory facial motor nucleus (mouse brain)
-namespace: aba
-is_a: UBERON:0002678 ! regional part of medulla oblongata
-relationship: part_of ABA:MY-mot ! Medulla, motor related (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACVII.html xsd:string
-
-[Term]
-id: ABA:ADP
-name: Anterodorsal preoptic nucleus (mouse brain)
-namespace: aba
-is_a: UBERON:0003048 ! regional part of hypothalamus
-relationship: part_of ABA:PVR ! Periventricular region (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ADP.html xsd:string
-
-[Term]
-id: ABA:AHA
-name: Anterior hypothalamic area (mouse brain)
-namespace: aba
-is_a: UBERON:0003048 ! regional part of hypothalamus
-relationship: part_of ABA:PVR ! Periventricular region (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AHA.html xsd:string
-
-[Term]
-id: ABA:AI
-name: Agranular insular area (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of UBERON:0001950 ! neocortex
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AI.html xsd:string
-
-[Term]
-id: ABA:AId
-name: Agranular insular area, dorsal part (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AI ! Agranular insular area (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AId.html xsd:string
-
-[Term]
-id: ABA:AId1
-name: Agranular insular area, dorsal part, layer 1 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AId ! Agranular insular area, dorsal part (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AId1.html xsd:string
-
-[Term]
-id: ABA:AId2-3
-name: Agranular insular area, dorsal part, layer 2/3 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AId ! Agranular insular area, dorsal part (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AId2%2F3.html xsd:string
-
-[Term]
-id: ABA:AId5
-name: Agranular insular area, dorsal part, layer 5 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AId ! Agranular insular area, dorsal part (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AId5.html xsd:string
-
-[Term]
-id: ABA:AId6a
-name: Agranular insular area, dorsal part, layer 6a (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AId ! Agranular insular area, dorsal part (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AId6a.html xsd:string
-
-[Term]
-id: ABA:AId6b
-name: Agranular insular area, dorsal part, layer 6b (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AId ! Agranular insular area, dorsal part (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AId6b.html xsd:string
-
-[Term]
-id: ABA:AIp
-name: Agranular insular area, posterior part (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AI ! Agranular insular area (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AIp.html xsd:string
-
-[Term]
-id: ABA:AIp1
-name: Agranular insular area, posterior part, layer 1 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AIp ! Agranular insular area, posterior part (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AIp1.html xsd:string
-
-[Term]
-id: ABA:AIp2-3
-name: Agranular insular area, posterior part, layer 2/3 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AIp ! Agranular insular area, posterior part (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AIp2%2F3.html xsd:string
-
-[Term]
-id: ABA:AIp5
-name: Agranular insular area, posterior part, layer 5 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AIp ! Agranular insular area, posterior part (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AIp5.html xsd:string
-
-[Term]
-id: ABA:AIp6a
-name: Agranular insular area, posterior part, layer 6a (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AIp ! Agranular insular area, posterior part (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AIp6a.html xsd:string
-
-[Term]
-id: ABA:AIp6b
-name: Agranular insular area, posterior part, layer 6b (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AIp ! Agranular insular area, posterior part (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AIp6b.html xsd:string
-
-[Term]
-id: ABA:AIv
-name: Agranular insular area, ventral part (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AI ! Agranular insular area (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AIv.html xsd:string
-
-[Term]
-id: ABA:AIv1
-name: Agranular insular area, ventral part, layer 1 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AIv ! Agranular insular area, ventral part (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AIv1.html xsd:string
-
-[Term]
-id: ABA:AIv2-3
-name: Agranular insular area, ventral part, layer 2/3 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AIv ! Agranular insular area, ventral part (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AIv2%2F3.html xsd:string
-
-[Term]
-id: ABA:AIv5
-name: Agranular insular area, ventral part, layer 5 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AIv ! Agranular insular area, ventral part (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AIv5.html xsd:string
-
-[Term]
-id: ABA:AIv6a
-name: Agranular insular area, ventral part, layer 6a (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AIv ! Agranular insular area, ventral part (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AIv6a.html xsd:string
-
-[Term]
-id: ABA:AIv6b
-name: Agranular insular area, ventral part, layer 6b (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AIv ! Agranular insular area, ventral part (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AIv6b.html xsd:string
-
-[Term]
-id: ABA:AMBd
-name: Nucleus ambiguus, dorsal division (mouse brain)
-namespace: aba
-is_a: UBERON:0002678 ! regional part of medulla oblongata
-relationship: part_of UBERON:0001719 ! nucleus ambiguus
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AMBd.html xsd:string
-
-[Term]
-id: ABA:AMBv
-name: Nucleus ambiguus, ventral division (mouse brain)
-namespace: aba
-is_a: UBERON:0002678 ! regional part of medulla oblongata
-relationship: part_of UBERON:0001719 ! nucleus ambiguus
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AMBv.html xsd:string
-
-[Term]
-id: ABA:AMd
-name: Anteromedial nucleus, dorsal part (mouse brain)
-namespace: aba
-is_a: UBERON:0002784 ! regional part of diencephalon
-relationship: part_of UBERON:0002681 ! anteromedial nucleus of thalamus
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AMd.html xsd:string
-
-[Term]
-id: ABA:AMv
-name: Anteromedial nucleus, ventral part (mouse brain)
-namespace: aba
-is_a: UBERON:0002784 ! regional part of diencephalon
-relationship: part_of UBERON:0002681 ! anteromedial nucleus of thalamus
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AMv.html xsd:string
-
-[Term]
-id: ABA:AON1
-name: Anterior olfactory nucleus, layer 1 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of UBERON:0002266 ! anterior olfactory nucleus
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AON1.html xsd:string
-
-[Term]
-id: ABA:AON2
-name: Anterior olfactory nucleus, layer 2 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of UBERON:0002266 ! anterior olfactory nucleus
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AON2.html xsd:string
-
-[Term]
-id: ABA:AONd
-name: Anterior olfactory nucleus, dorsal part (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of UBERON:0002266 ! anterior olfactory nucleus
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AONd.html xsd:string
-
-[Term]
-id: ABA:AONe
-name: Anterior olfactory nucleus, external part (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of UBERON:0002266 ! anterior olfactory nucleus
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AONe.html xsd:string
-
-[Term]
-id: ABA:AONl
-name: Anterior olfactory nucleus, lateral part (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of UBERON:0002266 ! anterior olfactory nucleus
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AONl.html xsd:string
-
-[Term]
-id: ABA:AONm
-name: Anterior olfactory nucleus, medial part (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of UBERON:0002266 ! anterior olfactory nucleus
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AONm.html xsd:string
-
-[Term]
-id: ABA:AONpv
-name: Anterior olfactory nucleus, posteroventral part (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of UBERON:0002266 ! anterior olfactory nucleus
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AONpv.html xsd:string
-
-[Term]
-id: ABA:APN
-name: Anterior pretectal nucleus (mouse brain)
-namespace: aba
-is_a: UBERON:0002966 ! regional part of midbrain tectum
-is_a: UBERON:0003047 ! regional part of pretectal region
-relationship: part_of UBERON:0001944 ! pretectal region
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/APN.html xsd:string
-
-[Term]
-id: ABA:ASO
-name: Accessory supraoptic group (mouse brain)
-namespace: aba
-is_a: UBERON:0003048 ! regional part of hypothalamus
-relationship: part_of UBERON:0002271 ! periventricular zone of hypothalamus
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ASO.html xsd:string
-
-[Term]
-id: ABA:AUD
-name: Auditory areas (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of UBERON:0001950 ! neocortex
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUD.html xsd:string
-
-[Term]
-id: ABA:AUDd
-name: Dorsal auditory area (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AUD ! Auditory areas (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDd.html xsd:string
-
-[Term]
-id: ABA:AUDd1
-name: Dorsal auditory area, layer 1 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AUDd ! Dorsal auditory area (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDd1.html xsd:string
-
-[Term]
-id: ABA:AUDd2-3
-name: Dorsal auditory area, layer 2/3 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AUDd ! Dorsal auditory area (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDd2%2F3.html xsd:string
-
-[Term]
-id: ABA:AUDd4
-name: Dorsal auditory area, layer 4 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AUDd ! Dorsal auditory area (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDd4.html xsd:string
-
-[Term]
-id: ABA:AUDd5
-name: Dorsal auditory area, layer 5 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AUDd ! Dorsal auditory area (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDd5.html xsd:string
-
-[Term]
-id: ABA:AUDd6a
-name: Dorsal auditory area, layer 6a (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AUDd ! Dorsal auditory area (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDd6a.html xsd:string
-
-[Term]
-id: ABA:AUDd6b
-name: Dorsal auditory area, layer 6b (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AUDd ! Dorsal auditory area (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDd6b.html xsd:string
-
-[Term]
-id: ABA:AUDp
-name: Primary auditory area (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AUD ! Auditory areas (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDp.html xsd:string
-
-[Term]
-id: ABA:AUDp1
-name: Primary auditory area, layer 1 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AUDp ! Primary auditory area (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDp1.html xsd:string
-
-[Term]
-id: ABA:AUDp2-3
-name: Primary auditory area, layer 2/3 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AUDp ! Primary auditory area (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDp2%2F3.html xsd:string
-
-[Term]
-id: ABA:AUDp4
-name: Primary auditory area, layer 4 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AUDp ! Primary auditory area (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDp4.html xsd:string
-
-[Term]
-id: ABA:AUDp5
-name: Primary auditory area, layer 5 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AUDp ! Primary auditory area (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDp5.html xsd:string
-
-[Term]
-id: ABA:AUDp6a
-name: Primary auditory area, layer 6a (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AUDp ! Primary auditory area (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDp6a.html xsd:string
-
-[Term]
-id: ABA:AUDp6b
-name: Primary auditory area, layer 6b (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AUDp ! Primary auditory area (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDp6b.html xsd:string
-
-[Term]
-id: ABA:AUDpo
-name: Posterior auditory area (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AUD ! Auditory areas (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDpo.html xsd:string
-
-[Term]
-id: ABA:AUDpo1
-name: Posterior auditory area, layer 1 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AUDpo ! Posterior auditory area (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDpo1.html xsd:string
-
-[Term]
-id: ABA:AUDpo2-3
-name: Posterior auditory area, layer 2/3 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AUDpo ! Posterior auditory area (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDpo2%2F3.html xsd:string
-
-[Term]
-id: ABA:AUDpo4
-name: Posterior auditory area, layer 4 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AUDpo ! Posterior auditory area (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDpo4.html xsd:string
-
-[Term]
-id: ABA:AUDpo5
-name: Posterior auditory area, layer 5 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AUDpo ! Posterior auditory area (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDpo5.html xsd:string
-
-[Term]
-id: ABA:AUDpo6a
-name: Posterior auditory area, layer 6a (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AUDpo ! Posterior auditory area (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDpo6a.html xsd:string
-
-[Term]
-id: ABA:AUDpo6b
-name: Posterior auditory area, layer 6b (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AUDpo ! Posterior auditory area (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDp06b.html xsd:string
-
-[Term]
-id: ABA:AUDv
-name: Ventral auditory area (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AUD ! Auditory areas (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDv.html xsd:string
-
-[Term]
-id: ABA:AUDv1
-name: Ventral auditory area, layer 1 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AUDv ! Ventral auditory area (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDv1.html xsd:string
-
-[Term]
-id: ABA:AUDv2-3
-name: Ventral auditory area, layer 2/3 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AUDv ! Ventral auditory area (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDv2%2F3.html xsd:string
-
-[Term]
-id: ABA:AUDv4
-name: Ventral auditory area, layer 4 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AUDv ! Ventral auditory area (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDv4.html xsd:string
-
-[Term]
-id: ABA:AUDv5
-name: Ventral auditory area, layer 5 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AUDv ! Ventral auditory area (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDv5.html xsd:string
-
-[Term]
-id: ABA:AUDv6a
-name: Ventral auditory area, layer 6a (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AUDv ! Ventral auditory area (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDv6a.html xsd:string
-
-[Term]
-id: ABA:AUDv6b
-name: Ventral auditory area, layer 6b (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:AUDv ! Ventral auditory area (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDv6b.html xsd:string
-
-[Term]
-id: ABA:AVP
-name: Anteroventral preoptic nucleus (mouse brain)
-namespace: aba
-is_a: UBERON:0003048 ! regional part of hypothalamus
-relationship: part_of ABA:PVR ! Periventricular region (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AVP.html xsd:string
-
-[Term]
-id: ABA:BA
-name: Bed nucleus of the accessory olfactory tract (mouse brain)
-namespace: aba
-is_a: UBERON:0002791 ! regional part of telencephalon
-relationship: part_of ABA:sAMY ! Striatum-like amygdalar nuclei (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/BA.html xsd:string
-
-[Term]
-id: ABA:BLAa
-name: Basolateral amygdalar nucleus, anterior part (mouse brain)
-namespace: aba
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of UBERON:0002887 ! basal amygdaloid nucleus
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/BLAa.html xsd:string
-
-[Term]
-id: ABA:BLAp
-name: Basolateral amygdalar nucleus, posterior part (mouse brain)
-namespace: aba
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of UBERON:0002887 ! basal amygdaloid nucleus
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/BLAp.html xsd:string
-
-[Term]
-id: ABA:BLAv
-name: Basolateral amygdalar nucleus, ventral part (mouse brain)
-namespace: aba
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of UBERON:0002887 ! basal amygdaloid nucleus
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/BLAv.html xsd:string
-
-[Term]
-id: ABA:BMAa
-name: Basomedial amygdalar nucleus, anterior part (mouse brain)
-namespace: aba
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of UBERON:0002889 ! medial part of basal amygdaloid nucleus
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/BMAa.html xsd:string
-
-[Term]
-id: ABA:BMAp
-name: Basomedial amygdalar nucleus, posterior part (mouse brain)
-namespace: aba
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of UBERON:0002889 ! medial part of basal amygdaloid nucleus
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/BMAp.html xsd:string
-
-[Term]
-id: ABA:BSTal
-name: Bed nuclei of the stria terminalis, anterior division, anterolateral area (mouse brain)
-namespace: aba
-is_a: UBERON:0002791 ! regional part of telencephalon
-relationship: part_of UBERON:0011173 ! anterior division of bed nuclei of stria terminalis
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/BSTal.html xsd:string
-
-[Term]
-id: ABA:BSTam
-name: Bed nuclei of the stria terminalis, anterior division, anteromedial area] (mouse brain)
-namespace: aba
-is_a: UBERON:0002791 ! regional part of telencephalon
-relationship: part_of UBERON:0011173 ! anterior division of bed nuclei of stria terminalis
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/BSTam.html xsd:string
-
-[Term]
-id: ABA:BSTd
-name: Bed nuclei of the stria terminalis, posterior division, dorsal nucleus (mouse brain)
-namespace: aba
-is_a: UBERON:0002791 ! regional part of telencephalon
-relationship: part_of UBERON:0011177 ! posterior division of bed nuclei of stria terminalis
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/BSTd.html xsd:string
-
-[Term]
-id: ABA:BSTdm
-name: Bed nuclei of the stria terminalis, anterior division, dorsomedial nucleus (mouse brain)
-namespace: aba
-is_a: UBERON:0002791 ! regional part of telencephalon
-relationship: part_of UBERON:0011173 ! anterior division of bed nuclei of stria terminalis
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/BSTdm.html xsd:string
-
-[Term]
-id: ABA:BSTif
-name: Bed nuclei of the stria terminalis, posterior division, interfascicular nucleus (mouse brain)
-namespace: aba
-is_a: UBERON:0002791 ! regional part of telencephalon
-relationship: part_of UBERON:0011177 ! posterior division of bed nuclei of stria terminalis
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/BSTif.html xsd:string
-
-[Term]
-id: ABA:BSTju
-name: Bed nuclei of the stria terminalis, anterior division, juxtacapsular nucleus (mouse brain)
-namespace: aba
-is_a: UBERON:0002791 ! regional part of telencephalon
-relationship: part_of UBERON:0011173 ! anterior division of bed nuclei of stria terminalis
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/BSTju.html xsd:string
-
-[Term]
-id: ABA:BSTrh
-name: Bed nuclei of the stria terminalis, anterior division, rhomboid nucleus (mouse brain)
-namespace: aba
-is_a: UBERON:0002791 ! regional part of telencephalon
-relationship: part_of UBERON:0011173 ! anterior division of bed nuclei of stria terminalis
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/BSTrh.html xsd:string
-
-[Term]
-id: ABA:BSTse
-name: Bed nuclei of the stria terminalis, posterior division, strial extension (mouse brain)
-namespace: aba
-is_a: UBERON:0002791 ! regional part of telencephalon
-relationship: part_of UBERON:0011177 ! posterior division of bed nuclei of stria terminalis
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/BSTse.html xsd:string
-
-[Term]
-id: ABA:BSTv
-name: Bed nuclei of the stria terminalis, anterior division, ventral nucleus (mouse brain)
-namespace: aba
-is_a: UBERON:0002791 ! regional part of telencephalon
-relationship: part_of UBERON:0011173 ! anterior division of bed nuclei of stria terminalis
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/BSTv.html xsd:string
-
-[Term]
-id: ABA:CEA
-name: Central amygdalar nucleus (mouse brain)
-namespace: aba
-is_a: UBERON:0002791 ! regional part of telencephalon
-relationship: part_of ABA:sAMY ! Striatum-like amygdalar nuclei (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/CEA.html xsd:string
-
-[Term]
-id: ABA:CEAc
-name: Central amygdalar nucleus, capsular part (mouse brain)
-namespace: aba
-is_a: UBERON:0002791 ! regional part of telencephalon
-relationship: part_of ABA:CEA ! Central amygdalar nucleus (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/CEAc.html xsd:string
-
-[Term]
-id: ABA:CEAl
-name: Central amygdalar nucleus, lateral part (mouse brain)
-namespace: aba
-is_a: UBERON:0002791 ! regional part of telencephalon
-relationship: part_of ABA:CEA ! Central amygdalar nucleus (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/CEAl.html xsd:string
-
-[Term]
-id: ABA:CEAm
-name: Central amygdalar nucleus, medial part (mouse brain)
-namespace: aba
-is_a: UBERON:0002791 ! regional part of telencephalon
-relationship: part_of ABA:CEA ! Central amygdalar nucleus (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/CEAm.html xsd:string
-
-[Term]
-id: ABA:CLI
-name: Central linear nucleus raphe (mouse brain)
-namespace: aba
-is_a: UBERON:0002635 ! regional part of midbrain tegmentum
-relationship: part_of UBERON:0007412 ! midbrain raphe nuclei
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/CLI.html xsd:string
-
-[Term]
-id: ABA:CNU
-name: Cerebral nuclei (mouse brain)
-namespace: aba
-is_a: UBERON:0002791 ! regional part of telencephalon
-relationship: part_of UBERON:0001893 ! telencephalon
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/CNU.html xsd:string
-
-[Term]
-id: ABA:CNlam
-name: Granular lamina of the cochlear nuclei (mouse brain)
-namespace: aba
-is_a: UBERON:0002621 ! regional part of cochlear nuclear complex
-relationship: part_of UBERON:0002610 ! cochlear nuclear complex
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/CNlam.html xsd:string
-
-[Term]
-id: ABA:CNspg
-name: Cochlear nucleus, subpedunclular granular region (mouse brain)
-namespace: aba
-is_a: UBERON:0002621 ! regional part of cochlear nuclear complex
-relationship: part_of UBERON:0002610 ! cochlear nuclear complex
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/CNspg.html xsd:string
-
-[Term]
-id: ABA:COA
-name: Cortical amygdalar area (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of UBERON:0002264 ! olfactory bulb
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/COA.html xsd:string
-
-[Term]
-id: ABA:COAa
-name: Cortical amygdalar area, anterior part (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:COA ! Cortical amygdalar area (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/COAa.html xsd:string
-
-[Term]
-id: ABA:COAa1
-name: Cortical amygdalar area, anterior part, layer 1 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:COAa ! Cortical amygdalar area, anterior part (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/COAa1.html xsd:string
-
-[Term]
-id: ABA:COAa2
-name: Cortical amygdalar area, anterior part, layer 2 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:COAa ! Cortical amygdalar area, anterior part (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/COAa2.html xsd:string
-
-[Term]
-id: ABA:COAa3
-name: Cortical amygdalar area, anterior part, layer 3 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:COAa ! Cortical amygdalar area, anterior part (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/COAa3.html xsd:string
-
-[Term]
-id: ABA:COAp
-name: Cortical amygdalar area, posterior part (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:COA ! Cortical amygdalar area (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/COAp.html xsd:string
-
-[Term]
-id: ABA:COApl
-name: Cortical amygdalar area, posterior part, lateral zone (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:COAp ! Cortical amygdalar area, posterior part (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/COApl.html xsd:string
-
-[Term]
-id: ABA:COApl1
-name: Cortical amygdalar area, posterior part, lateral zone, layer 1 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:COApl ! Cortical amygdalar area, posterior part, lateral zone (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/COApl1.html xsd:string
-
-[Term]
-id: ABA:COApl1-2
-name: Cortical amygdalar area, posterior part, lateral zone, layer 1-2 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:COApl ! Cortical amygdalar area, posterior part, lateral zone (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/COApl1-2.html xsd:string
-
-[Term]
-id: ABA:COApl1-3
-name: Cortical amygdalar area, posterior part, lateral zone, layer 1-3 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:COApl ! Cortical amygdalar area, posterior part, lateral zone (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/COApl1-3.html xsd:string
-
-[Term]
-id: ABA:COApl2
-name: Cortical amygdalar area, posterior part, lateral zone, layer 2 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:COApl ! Cortical amygdalar area, posterior part, lateral zone (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/COApl2.html xsd:string
-
-[Term]
-id: ABA:COApl3
-name: Cortical amygdalar area, posterior part, lateral zone, layer 3 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:COApl ! Cortical amygdalar area, posterior part, lateral zone (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/COApl3.html xsd:string
-
-[Term]
-id: ABA:COApm
-name: Cortical amygdalar area, posterior part, medial zone (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:COAp ! Cortical amygdalar area, posterior part (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/COApm.html xsd:string
-
-[Term]
-id: ABA:COApm1
-name: Cortical amygdalar area, posterior part, medial zone, layer 1 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:COApm ! Cortical amygdalar area, posterior part, medial zone (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/COApm1.html xsd:string
-
-[Term]
-id: ABA:COApm1-2
-name: Cortical amygdalar area, posterior part, medial zone, layer 1-2 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:COApm ! Cortical amygdalar area, posterior part, medial zone (mouse brain)
-
-[Term]
-id: ABA:COApm1-3
-name: Cortical amygdalar area, posterior part, medial zone, layer 1-3 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:COApm ! Cortical amygdalar area, posterior part, medial zone (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/COApm1-3.html xsd:string
-
-[Term]
-id: ABA:COApm2
-name: Cortical amygdalar area, posterior part, medial zone, layer 2 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:COApm ! Cortical amygdalar area, posterior part, medial zone (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/COApm2.html xsd:string
-
-[Term]
-id: ABA:COApm3
-name: Cortical amygdalar area, posterior part, medial zone, layer 3 (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:COApm ! Cortical amygdalar area, posterior part, medial zone (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/COApm3.html xsd:string
-
-[Term]
-id: ABA:CSl
-name: Superior central nucleus raphe, lateral part (mouse brain)
-namespace: aba
-is_a: UBERON:0002635 ! regional part of midbrain tegmentum
-is_a: UBERON:0002680 ! regional part of metencephalon
-relationship: part_of UBERON:0003004 ! median raphe nucleus
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/CSl.html xsd:string
-
-[Term]
-id: ABA:CSm
-name: Superior central nucleus raphe, medial part (mouse brain)
-namespace: aba
-is_a: UBERON:0002635 ! regional part of midbrain tegmentum
-is_a: UBERON:0002680 ! regional part of metencephalon
-relationship: part_of UBERON:0003004 ! median raphe nucleus
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/CSm.html xsd:string
-
-[Term]
-id: ABA:CTX2-3
-name: Cerebral cortex, layer 2-3 (mouse brain)
-namespace: aba
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of UBERON:0000956 ! cerebral cortex
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/CTX2%2F3.html xsd:string
-
-[Term]
-id: ABA:CTX6a
-name: Cerebral cortex, layer 6a (mouse brain)
-namespace: aba
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of UBERON:0000956 ! cerebral cortex
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/CTX6a.html xsd:string
-
-[Term]
-id: ABA:CTXsp
-name: Cortical subplate (mouse brain)
-namespace: aba
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of UBERON:0000956 ! cerebral cortex
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/CTXsp.html xsd:string
-
-[Term]
-id: ABA:CTXsp6b
-name: Layer 6b, isocortex (mouse brain)
-namespace: aba
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:CTXsp ! Cortical subplate (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/6b.html xsd:string
-
-[Term]
-id: ABA:CUL4-5
-name: Lobules IV-V (mouse brain)
-namespace: aba
-is_a: UBERON:0002749 ! regional part of cerebellar cortex
-relationship: part_of UBERON:0007763 ! cerebellum culmen
-property_value: rdfs:isDefinedBy "http://mouse.brain-map.org/atlas/coronal/CUL4, 5.html" xsd:string
-
-[Term]
-id: ABA:DGcr
-name: Dentate gyrus crest (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of UBERON:0001885 ! dentate gyrus of hippocampal formation
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/DGcr.html xsd:string
-
-[Term]
-id: ABA:DGcr-mo
-name: Dentate gyrus crest, molecular layer (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:DGcr ! Dentate gyrus crest (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/DGcr-mo.html xsd:string
-
-[Term]
-id: ABA:DGcr-po
-name: Dentate gyrus crest, polymorph layer (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:DGcr ! Dentate gyrus crest (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/DGcr-po.html xsd:string
-
-[Term]
-id: ABA:DGcr-sg
-name: Dentate gyrus crest, granule cell layer (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:DGcr ! Dentate gyrus crest (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/DGcr-sg.html xsd:string
-
-[Term]
-id: ABA:DGlb
-name: Dentate gyrus lateral blade (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of UBERON:0001885 ! dentate gyrus of hippocampal formation
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/DGlb.html xsd:string
-
-[Term]
-id: ABA:DGlb-mo
-name: Dentate gyrus lateral blade, molecular layer (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:DGlb ! Dentate gyrus lateral blade (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/DGlb-mo.html xsd:string
-
-[Term]
-id: ABA:DGlb-po
-name: Dentate gyrus lateral blade, polymorph layer (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:DGlb ! Dentate gyrus lateral blade (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/DGlb-po.html xsd:string
-
-[Term]
-id: ABA:DGlb-sg
-name: Dentate gyrus lateral blade, granule cell layer (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:DGlb ! Dentate gyrus lateral blade (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/DGlb-sg.html xsd:string
-
-[Term]
-id: ABA:DGmb
-name: Dentate gyrus medial blade (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of UBERON:0001885 ! dentate gyrus of hippocampal formation
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/DGmb.html xsd:string
-
-[Term]
-id: ABA:DGmb-mo
-name: Dentate gyrus medial blade, molecular layer (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:DGmb ! Dentate gyrus medial blade (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/DGmb-mo.html xsd:string
-
-[Term]
-id: ABA:DGmb-po
-name: Dentate gyrus medial blade, polymorph layer (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:DGmb ! Dentate gyrus medial blade (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/DGmb-po.html xsd:string
-
-[Term]
-id: ABA:DGmb-sg
-name: Dentate gyrus medial blade, granule cell layer (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of ABA:DGmb ! Dentate gyrus medial blade (mouse brain)
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/DGmb-sg.html xsd:string
-
-[Term]
-id: ABA:DMHa
-name: Dorsomedial nucleus of the hypothalamus, anterior part (mouse brain)
-namespace: aba
-is_a: UBERON:0002951 ! regional part of intermediate hypothalamic region
-relationship: part_of UBERON:0001934 ! dorsomedial nucleus of hypothalamus
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/DMHa.html xsd:string
-
-[Term]
-id: ABA:DMHp
-name: Dorsomedial nucleus of the hypothalamus, posterior part (mouse brain)
-namespace: aba
-is_a: UBERON:0002951 ! regional part of intermediate hypothalamic region
-relationship: part_of UBERON:0001934 ! dorsomedial nucleus of hypothalamus
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/DMHp.html xsd:string
-
-[Term]
-id: ABA:DMHv
-name: Dorsomedial nucleus of the hypothalamus, ventral part (mouse brain)
-namespace: aba
-is_a: UBERON:0002951 ! regional part of intermediate hypothalamic region
-relationship: part_of UBERON:0001934 ! dorsomedial nucleus of hypothalamus
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/DMHv.html xsd:string
-
-[Term]
-id: ABA:DORpm
-name: Thalamus, polymodal association cortex related (mouse brain)
-namespace: aba
-is_a: UBERON:0002784 ! regional part of diencephalon
-relationship: part_of UBERON:0001897 ! dorsal plus ventral thalamus
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/DORpm.html xsd:string
-
-[Term]
-id: ABA:DORsm
-name: Thalamus, sensory-motor cortex related (mouse brain)
-namespace: aba
-is_a: UBERON:0002784 ! regional part of diencephalon
-relationship: part_of UBERON:0001897 ! dorsal plus ventral thalamus
-property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/DORsm.html xsd:string
-
-[Term]
-id: ABA:DP
-name: Dorsal peduncular area (mouse brain)
-namespace: aba
-is_a: UBERON:0002050 ! embryonic structure
-is_a: UBERON:0002619 ! regional part of cerebral cortex
-relationship: part_of UBERON:0002264 ! olfactory bulb
-property_value: rdfs:isDefinedBy http://mouse.br...
[truncated message content] |
|
From: <pr...@us...> - 2014-10-31 10:58:37
|
Revision: 5220
http://sourceforge.net/p/obo/svn/5220
Author: probins
Date: 2014-10-31 10:58:25 +0000 (Fri, 31 Oct 2014)
Log Message:
-----------
Correcting a few frequencies
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-45.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-101200.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-181000.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606002.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607014.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610250.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-45.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-45.tab 2014-10-30 23:02:39 UTC (rev 5219)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-45.tab 2014-10-31 10:58:25 UTC (rev 5220)
@@ -1,34 +1,32 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add'l Entity Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Sex Negation ID Negation Name Description Orthologs Pub Date Created
-DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0001419 X-linked recessive inheritance TEA http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup 13.09.2010
-DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0001319 Neonatal hypotonia TEA typical male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup 13.09.2010
-DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0010864 Mental retardation, severe PCS obligate male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup; PMID:17088400 15.09.2010
-DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0000750 Impaired language development TEA hallmark male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup 15.09.2010
-DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002191 Spasticity, progressive HP:0003578 Onset in childhood PCS 7/10 male PMID:17088400 15.09.2010
-DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002205 Recurrent respiratory infections TEA 75% male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup 15.09.2010
-DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0001250 Seizures TEA 50% male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup 15.09.2010
-DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0000717 Autism TEA occasional male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup 15.09.2010
-DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0001255 Psychomotor retardation TEA typical male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup 15.09.2010
-DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002022 Feeding difficulties TEA typical male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup 15.09.2010
-DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0001508 Failure to thrive TEA typical male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup 15.09.2010
-DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0000248 Brachycephaly TEA occasional male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup 15.09.2010
-DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0000272 Malar hypoplasia TEA occasional male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup 15.09.2010
-DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0000400 Large ears TEA occasional male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup 15.09.2010
-DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0000425 Flattened nasal bridge TEA occasional male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup 15.09.2010
-DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002066 Gait ataxia TEA occasional male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup 15.09.2010
-DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002019 Constipation TEA occasional male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup 15.09.2010
-DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002079 Hypoplasia of the corpus callosum TEA occasional male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup 15.09.2010
-DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0000009 Functional abnormality of the bladder TEA occasional male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup 15.09.2010
-DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0001432 Early death TEA 50% male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup 15.09.2010
-DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0000717 Autism TEA rare female http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup 15.09.2010
-DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0000716 Depression TEA rare female http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup 15.09.2010
-DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0000739 Anxiety TEA rare female http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup 15.09.2010
-DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002540 Inability to walk TEA 33% male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup 15.09.2010
-DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0001344 Absent speech development TEA 70% male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup 15.09.2010
-DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0000739 Anxiety TEA occasional male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup 15.09.2010
-DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0008758 Stereotypical motor behaviors TEA occasional male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup 15.09.2010
-DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0000252 Microcephaly PCS 4/31 male PMID:17088400 15.09.2010
-DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0000160 Microstomia PCS 4/18 male PMID:17088400 15.09.2010
-DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002307 Drooling PCS 10/15 male PMID:17088400 15.09.2010
-DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002020 Gastroesophageal reflux PCS 13/16 male PMID:17088400 15.09.2010
-DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002015 Dysphagia PCS 14/16 male PMID:17088400 15.09.2010
-DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002720 Decreased IgA HP:0003578 Onset in childhood PCS 4/10 male PMID:17088400 15.09.2010
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0001419 X-linked recessive inheritance TEA http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 13, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0001319 Neonatal hypotonia TEA typical male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 13, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0010864 Intellectual disability, severe PCS PCS male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup; PMID:17088400 Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0000750 Delayed speech and language development TEA hallmark male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002191 Progressive spasticity HP:0003578 Onset in childhood PCS PCS male male PMID:17088400 Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002205 Recurrent respiratory infections TEA 75% male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0001250 Seizures TEA 50% male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0000717 Autism TEA occasional male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0001255 Psychomotor retardation TEA typical male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002022 Feeding difficulties TEA typical male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0001508 Failure to thrive TEA typical male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0000248 Brachycephaly TEA occasional male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0000272 Malar flattening TEA occasional male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0000400 Macrotia TEA occasional male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0000425 Flattened nasal bridge TEA occasional male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002066 Gait ataxia TEA occasional male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002019 Constipation TEA occasional male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002079 Hypoplasia of the corpus callosum TEA occasional male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0000009 Functional abnormality of the bladder TEA occasional male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0001432 Early death TEA 50% male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0000716 Depression TEA rare female female http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002540 Inability to walk TEA 33% male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0001344 Absent speech TEA 70% male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0000739 Anxiety TEA occasional male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0008758 Stereotypical motor behaviors TEA occasional male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0000252 Microcephaly PCS PCS male male PMID:17088400 Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0000160 Narrow mouth PCS PCS male male PMID:17088400 Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002307 Drooling PCS PCS male male PMID:17088400 Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002020 Gastroesophageal reflux PCS PCS male male PMID:17088400 Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002015 Dysphagia PCS PCS male male PMID:17088400 Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002720 IgA deficiency HP:0003578 Onset in childhood PCS PCS male male PMID:17088400 Sep 15, 2010
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-101200.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-101200.tab 2014-10-30 23:02:39 UTC (rev 5219)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-101200.tab 2014-10-31 10:58:25 UTC (rev 5220)
@@ -44,13 +44,13 @@
OMIM:101200 APERT SYNDROME HP:0007343 Limbic malformations IEA IEA OMIM:101200 HPO Feb 17, 2009
OMIM:101200 APERT SYNDROME HP:0008111 Broad distal hallux IEA IEA OMIM:101200 HPO Feb 17, 2009
OMIM:101200 APERT SYNDROME HP:0000452 Choanal stenosis TAS TAS OMIM:101200 HPO:probinson Apr 24, 2012
-OMIM:101200 APERT SYNDROME HP:0001162 Postaxial polydactyly (hands) TAS TAS Rare OMIM:101200 HPO:probinson Apr 24, 2012
-OMIM:101200 APERT SYNDROME HP:0001177 Preaxial polydactyly (hands) TAS TAS Rare OMIM:101200 HPO:probinson Apr 24, 2012
+OMIM:101200 APERT SYNDROME HP:0001162 Postaxial hand polydactyly TAS TAS Rare OMIM:101200 HPO:probinson Apr 24, 2012
+OMIM:101200 APERT SYNDROME HP:0001177 Preaxial hand polydactyly TAS TAS Rare OMIM:101200 HPO:probinson Apr 24, 2012
OMIM:101200 APERT SYNDROME HP:0009642 Broad distal phalanx of the thumb TAS TAS OMIM:101200 HPO:probinson Apr 24, 2012
OMIM:101200 APERT SYNDROME HP:0010554 Cutaneous finger syndactyly TAS TAS OMIM:101200 HPO:probinson Apr 24, 2012
OMIM:101200 APERT SYNDROME HP:0007291 Posterior fossa cyst TAS TAS OMIM:101200 HPO:probinson Apr 24, 2012
OMIM:101200 APERT SYNDROME HP:0000348 High forehead TAS TAS OMIM:101200 HPO:probinson May 1, 2012
OMIM:101200 APERT SYNDROME HP:0000337 Broad forehead TAS TAS OMIM:101200 HPO:probinson May 1, 2012
OMIM:101200 APERT SYNDROME HP:0100702 Arachnoid cyst IEA IEA OMIM:101200 HPO:skoehler Oct 9, 2012
-OMIM:101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0012368 Flat face IEA IEA OMIM-CS:HEAD AND NECK_FACE > FLAT FACE OMIM:101200 HPO:skoehler 22.10.2013
-OMIM:101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0011800 Midface retrusion IEA IEA OMIM-CS:HEAD AND NECK_FACE > MIDFACE HYPOPLASIA OMIM:101200 HPO:skoehler 28.11.2013
+OMIM:101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0012368 Flat face IEA IEA OMIM-CS:HEAD AND NECK_FACE > FLAT FACE OMIM:101200 HPO:skoehler Oct 22, 2013
+OMIM:101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0011800 Midface retrusion IEA IEA OMIM-CS:HEAD AND NECK_FACE > MIDFACE HYPOPLASIA OMIM:101200 HPO:skoehler Nov 28, 2013
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-181000.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-181000.tab 2014-10-30 23:02:39 UTC (rev 5219)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-181000.tab 2014-10-31 10:58:25 UTC (rev 5220)
@@ -1,26 +1,26 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-MIM:181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1 MIM:142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1 HLA-DRB1 HP:0000153 Abnormality of the mouth IEA IEA 17.02.2009
-MIM:181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1 MIM:142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1 HLA-DRB1 HP:0000501 Glaucoma IEA IEA 17.02.2009
-MIM:181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1 MIM:142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1 HLA-DRB1 HP:0000554 Uveitis IEA IEA 17.02.2009
-MIM:181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1 MIM:142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1 HLA-DRB1 HP:0000613 Photophobia IEA IEA 17.02.2009
-MIM:181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1 MIM:142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1 HLA-DRB1 HP:0001094 Iridocyclitis IEA IEA 17.02.2009
-MIM:181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1 MIM:142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1 HLA-DRB1 HP:0001744 Splenomegaly PCS PCS Occasional MIM:181000 HPO:probinson 17.02.2009
-MIM:181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1 MIM:142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1 HLA-DRB1 HP:0001824 Weight loss IEA IEA 17.02.2009
-MIM:181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1 MIM:142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1 HLA-DRB1 HP:0001945 Fever IEA IEA 17.02.2009
-MIM:181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1 MIM:142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1 HLA-DRB1 HP:0002039 Anorexia IEA IEA 17.02.2009
-MIM:181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1 MIM:142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1 HLA-DRB1 HP:0002094 Dyspnea IEA IEA 17.02.2009
-MIM:181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1 MIM:142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1 HLA-DRB1 HP:0002150 Hypercalciuria IEA IEA 17.02.2009
-MIM:181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1 MIM:142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1 HLA-DRB1 HP:0002240 Hepatomegaly PCS PCS Occasional MIM:181000 HPO:probinson 17.02.2009
-MIM:181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1 MIM:142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1 HLA-DRB1 HP:0010702 Hypergammaglobulinemia PCS PCS MIM:181000 HPO:probinson 17.02.2009
-MIM:181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1 MIM:142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1 HLA-DRB1 HP:0003565 Elevated erythrocyte sedimentation rate IEA IEA 17.02.2009
-MIM:181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1 MIM:142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1 HLA-DRB1 HP:0005397 Exaggerated cellular immune processes IEA IEA 17.02.2009
-MIM:181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1 MIM:142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1 HLA-DRB1 HP:0006530 Interstitial pulmonary disease IEA IEA 17.02.2009
-MIM:181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1 MIM:142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1 HLA-DRB1 HP:0007734 Enlarged lacrimal glands IEA IEA 17.02.2009
-MIM:181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1 MIM:142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1 HLA-DRB1 HP:0008940 Generalized lymphadenopathy IEA IEA 17.02.2009
-MIM:181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1 MIM:142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1 HLA-DRB1 HP:0001138 Optic neuropathy PCS PCS Rare IM:181000 HPO:probinson 06.04.2012
-OMIM:181000 #181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1; SS1;;SARCOIDOSIS;;BOECK SARCOID HP:0000622 Blurred vision IEA IEA OMIM-CS:HEAD AND NECK_EYES > BLURRED VISION OMIM:181000 HPO:skoehler 17.10.2012
-OMIM:181000 #181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1; SS1;;SARCOIDOSIS;;BOECK SARCOID HP:0100696 Bone cysts IEA IEA OMIM-CS:SKELETAL > BONE CYSTS OMIM:181000 HPO:skoehler 17.10.2012
-OMIM:181000 #181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1; SS1;;SARCOIDOSIS;;BOECK SARCOID HP:0002037 Inflammation of the large intestine IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > ASSOCIATED INFLAMMATORY BOWEL DISEASE OMIM:181000 HPO:skoehler 22.01.2013
-OMIM:181000 #181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1; SS1;;SARCOIDOSIS;;BOECK SARCOID HP:0001876 Pancytopenia IEA IEA OMIM-CS:HEMATOLOGY > BONE MARROW INVOLVEMENT MAY CAUSE PANCYTOPENIA OMIM:181000 HPO:skoehler 22.01.2013
-OMIM:181000 #181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1; SS1;;SARCOIDOSIS;;BOECK SARCOID HP:0001369 Arthritis IEA IEA OMIM-CS:SKELETAL > POLYARTHRITIS OMIM:181000 HPO:skoehler 22.01.2013
-OMIM:181000 #181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1; SS1;;SARCOIDOSIS;;BOECK SARCOID HP:0012735 Cough IEA IEA OMIM-CS:RESPIRATORY > COUGH OMIM:181000 HPO:skoehler 24.03.2014
+MIM:181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1 MIM:142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1 HLA-DRB1 HP:0000153 Abnormality of the mouth IEA IEA MIM:181000 HPO:probinson Feb 17, 2009
+MIM:181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1 MIM:142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1 HLA-DRB1 HP:0000501 Glaucoma IEA IEA MIM:181000 HPO:probinson Feb 17, 2009
+MIM:181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1 MIM:142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1 HLA-DRB1 HP:0000554 Uveitis IEA IEA MIM:181000 HPO:probinson Feb 17, 2009
+MIM:181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1 MIM:142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1 HLA-DRB1 HP:0000613 Photophobia IEA IEA MIM:181000 HPO:probinson Feb 17, 2009
+MIM:181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1 MIM:142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1 HLA-DRB1 HP:0001094 Iridocyclitis IEA IEA MIM:181000 HPO:probinson Feb 17, 2009
+MIM:181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1 MIM:142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1 HLA-DRB1 HP:0001744 Splenomegaly PCS PCS Occasional MIM:181000 HPO:probinson Feb 17, 2009
+MIM:181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1 MIM:142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1 HLA-DRB1 HP:0001824 Weight loss IEA IEA MIM:181000 HPO:probinson Feb 17, 2009
+MIM:181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1 MIM:142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1 HLA-DRB1 HP:0001945 Fever IEA IEA MIM:181000 HPO:probinson Feb 17, 2009
+MIM:181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1 MIM:142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1 HLA-DRB1 HP:0002039 Anorexia IEA IEA MIM:181000 HPO:probinson Feb 17, 2009
+MIM:181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1 MIM:142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1 HLA-DRB1 HP:0002094 Dyspnea IEA IEA MIM:181000 HPO:probinson Feb 17, 2009
+MIM:181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1 MIM:142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1 HLA-DRB1 HP:0002150 Hypercalciuria IEA IEA MIM:181000 HPO:probinson Feb 17, 2009
+MIM:181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1 MIM:142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1 HLA-DRB1 HP:0002240 Hepatomegaly PCS PCS Occasional MIM:181000 HPO:probinson Feb 17, 2009
+MIM:181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1 MIM:142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1 HLA-DRB1 HP:0010702 Hypergammaglobulinemia PCS PCS MIM:181000 HPO:probinson Feb 17, 2009
+MIM:181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1 MIM:142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1 HLA-DRB1 HP:0003565 Elevated erythrocyte sedimentation rate IEA IEA MIM:181000 HPO:probinson Feb 17, 2009
+MIM:181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1 MIM:142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1 HLA-DRB1 HP:0005397 Exaggerated cellular immune processes IEA IEA MIM:181000 HPO:probinson Feb 17, 2009
+MIM:181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1 MIM:142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1 HLA-DRB1 HP:0006530 Interstitial pulmonary disease IEA IEA MIM:181000 HPO:probinson Feb 17, 2009
+MIM:181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1 MIM:142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1 HLA-DRB1 HP:0007734 Enlarged lacrimal glands IEA IEA MIM:181000 HPO:probinson Feb 17, 2009
+MIM:181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1 MIM:142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1 HLA-DRB1 HP:0008940 Generalized lymphadenopathy IEA IEA MIM:181000 HPO:probinson Feb 17, 2009
+MIM:181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1 MIM:142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1 HLA-DRB1 HP:0001138 Optic neuropathy PCS PCS Rare MIM:181000 HPO:probinson Apr 6, 2012
+OMIM:181000 #181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1; SS1;;SARCOIDOSIS;;BOECK SARCOID HP:0000622 Blurred vision IEA IEA OMIM-CS:HEAD AND NECK_EYES > BLURRED VISION OMIM:181000 HPO:skoehler Oct 17, 2012
+OMIM:181000 #181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1; SS1;;SARCOIDOSIS;;BOECK SARCOID HP:0100696 Bone cysts IEA IEA OMIM-CS:SKELETAL > BONE CYSTS OMIM:181000 HPO:skoehler Oct 17, 2012
+OMIM:181000 #181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1; SS1;;SARCOIDOSIS;;BOECK SARCOID HP:0002037 Inflammation of the large intestine IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > ASSOCIATED INFLAMMATORY BOWEL DISEASE OMIM:181000 HPO:skoehler Jan 22, 2013
+OMIM:181000 #181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1; SS1;;SARCOIDOSIS;;BOECK SARCOID HP:0001876 Pancytopenia IEA IEA OMIM-CS:HEMATOLOGY > BONE MARROW INVOLVEMENT MAY CAUSE PANCYTOPENIA OMIM:181000 HPO:skoehler Jan 22, 2013
+OMIM:181000 #181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1; SS1;;SARCOIDOSIS;;BOECK SARCOID HP:0001369 Arthritis IEA IEA OMIM-CS:SKELETAL > POLYARTHRITIS OMIM:181000 HPO:skoehler Jan 22, 2013
+OMIM:181000 #181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1; SS1;;SARCOIDOSIS;;BOECK SARCOID HP:0012735 Cough IEA IEA OMIM-CS:RESPIRATORY > COUGH OMIM:181000 HPO:skoehler Mar 24, 2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606002.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606002.tab 2014-10-30 23:02:39 UTC (rev 5219)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606002.tab 2014-10-31 10:58:25 UTC (rev 5220)
@@ -1,48 +1,48 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset 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:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:606002 HPO 17.02.2009
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0000486 Strabismus TAS TAS 30% OMIM:606002 HPO 17.02.2009
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0000640 Gaze-evoked nystagmus TAS TAS OMIM:606002 HPO 17.02.2009
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0000657 Oculomotor apraxia PCS PCS 2/10 PMID:16636238 HPO 17.02.2009
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0001152 Saccadic smooth pursuit TAS TAS OMIM:606002 HPO 17.02.2009
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0001260 Dysarthria PCS PCS 10/10 PMID:16636238 HPO 17.02.2009
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0001284 Areflexia PCS PCS 10/10 PMID:16636238 HPO 17.02.2009
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0001337 Tremor TAS TAS 57% OMIM:606002 HPO 17.02.2009
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0001761 Pes cavus PCS PCS 12/18 PMID:14736755 HPO 17.02.2009
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0002015 Dysphagia PCS PCS 10/10 PMID:16636238 HPO 17.02.2009
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0002070 Limb ataxia TAS TAS OMIM:606002 HPO 17.02.2009
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0002147 Increased serum creatine kinase TAS TAS OMIM:606002 HPO 17.02.2009
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0002460 Distal muscle weakness PCS PCS 10/10 PMID:16636238 HPO 17.02.2009
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0002066 Gait ataxia PCS PCS 10/10 PMID:16636238 HPO 17.02.2009
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0002650 Scoliosis PCS PCS 7/18 PMID:14736755 HPO 17.02.2009
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0003431 Decreased motor nerve conduction velocity TAS TAS OMIM:606002 HPO 17.02.2009
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0003676 Progressive disorder TAS TAS OMIM:606002 HPO 17.02.2009
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0003693 Distal amyotrophy PCS PCS 10/10 PMID:16636238 HPO 17.02.2009
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0003814 Variable severity TAS TAS OMIM:606002 HPO 17.02.2009
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0004435 Hypergammaglobulinemia TAS TAS OMIM:606002 HPO 17.02.2009
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0006254 Elevated alpha-fetoprotein PCS PCS 6/6 PMID:16636238 HPO 17.02.2009
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0006879 Pontocerebellar atrophy TAS TAS OMIM:606002 HPO 17.02.2009
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0006886 Impaired distal vibration sensation PCS PCS PMID:16636238 HPO 17.02.2009
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0006981 Decreased distal touch sense TAS TAS 57% OMIM:606002 HPO 17.02.2009
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0000639 Nystagmus PCS PCS 8/10 PMID:16636238 HPO 07.09.2010
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0001272 Cerebellar atrophy PCS PCS 8/8 PMID:16636238 HPO 07.09.2010
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0010831 Impaired proprioception PCS PCS 10/10 PMID:16636238 HPO 07.09.2010
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0003477 Peripheral axonal neuropathy PCS PCS 8/8 PMID:16636238 HPO 07.09.2010
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0000657 Oculomotor apraxia PCS PCS 10/18 PMID:14736755 HPO 08.09.2010
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0000657 Oculomotor apraxia PCS PCS 6/19 PMID:19141356 HPO 08.09.2010
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0001315 Reduced tendon reflexes PCS PCS 18/18 PMID:14736755 HPO 08.09.2010
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0002066 Gait ataxia PCS PCS 13/18 PMID:14736755 HPO 08.09.2010
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0002072 Chorea TAS TAS 4/18 OMIM:606002 HPO 08.09.2010
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0001332 Dystonia PCS PCS 5/18 PMS:14736755 HPO 08.09.2010
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0002346 Head tremor PCS PCS 2/18 PMID:14736755 HPO 08.09.2010
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0006254 Elevated alpha-fetoprotein PCS PCS 18/18 PMID:14736755 HPO 08.09.2010
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0001272 Cerebellar atrophy PCS PCS 18/18 PMID:14736755 HPO 08.09.2010
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0000639 Nystagmus PCS PCS 7/19 PMID:19141356 HPO 08.09.2010
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0001284 Areflexia PCS PCS 17/19 PMID:19141356 HPO 08.09.2010
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0001284 Areflexia PCS PCS 14/18 PMID:14736755 HPO 08.09.2010
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0002467 Decreased deep tendon reflexes PCS PCS 4/18 PMID:14736755 HPO 08.09.2010
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0002346 Head tremor PCS PCS 5/19 PMID:19141356 HPO 08.09.2010
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0001272 Cerebellar atrophy PCS PCS 13/13 PMID:19141356 HPO 08.09.2010
-MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0006254 Elevated alpha-fetoprotein PCS PCS 19/19 PMID:19141356 HPO 08.09.2010
-OMIM:606002 #606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1; SCAR1;;ATAXIA-OCULOMOTOR APRAXIA 2; AOA2;;ATAXIA-OCULAR APRAXIA 2 HP:0007240 Progressive gait ataxia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > GAIT ATAXIA, PROGRESSIVE OMIM:606002 HPO:skoehler 17.10.2012
-OMIM:606002 #606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1; SCAR1;;ATAXIA-OCULOMOTOR APRAXIA 2; AOA2;;ATAXIA-OCULAR APRAXIA 2 HP:0000524 Conjunctival telangiectasia IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > CONJUNCTIVAL TELANGIECTASIA (REPORTED IN 1 FAMILY) OMIM:606002 HPO:skoehler 23.06.2013
-OMIM:606002 #606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1; SCAR1;;ATAXIA-OCULOMOTOR APRAXIA 2; AOA2;;ATAXIA-OCULAR APRAXIA 2 HP:0001271 Polyneuropathy IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > POLYNEUROPATHY (98% OF PATIENTS) OMIM:606002 HPO:skoehler 23.06.2013
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:606002 HPO Feb 17, 2009
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0000486 Strabismus TAS TAS 30% OMIM:606002 HPO Feb 17, 2009
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0000640 Gaze-evoked nystagmus TAS TAS OMIM:606002 HPO Feb 17, 2009
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0000657 Oculomotor apraxia PCS PCS 2/10 PMID:16636238 HPO Feb 17, 2009
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0001152 Saccadic smooth pursuit TAS TAS OMIM:606002 HPO Feb 17, 2009
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0001260 Dysarthria PCS PCS 10/10 PMID:16636238 HPO Feb 17, 2009
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0001284 Areflexia PCS PCS 10/10 PMID:16636238 HPO Feb 17, 2009
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0001337 Tremor TAS TAS 57% OMIM:606002 HPO Feb 17, 2009
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0001761 Pes cavus PCS PCS 12/18 PMID:14736755 HPO Feb 17, 2009
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0002015 Dysphagia PCS PCS 10/10 PMID:16636238 HPO Feb 17, 2009
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0002070 Limb ataxia TAS TAS OMIM:606002 HPO Feb 17, 2009
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0002147 Increased serum creatine kinase TAS TAS OMIM:606002 HPO Feb 17, 2009
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0002460 Distal muscle weakness PCS PCS 10/10 PMID:16636238 HPO Feb 17, 2009
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0002066 Gait ataxia PCS PCS 10/10 PMID:16636238 HPO Feb 17, 2009
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0002650 Scoliosis PCS PCS 7/18 PMID:14736755 HPO Feb 17, 2009
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0003431 Decreased motor nerve conduction velocity TAS TAS OMIM:606002 HPO Feb 17, 2009
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0003676 Progressive disorder TAS TAS OMIM:606002 HPO Feb 17, 2009
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0003693 Distal amyotrophy PCS PCS 10/10 PMID:16636238 HPO Feb 17, 2009
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0003814 Variable severity TAS TAS OMIM:606002 HPO Feb 17, 2009
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0004435 Hypergammaglobulinemia TAS TAS OMIM:606002 HPO Feb 17, 2009
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0006254 Elevated alpha-fetoprotein PCS PCS 6/6 PMID:16636238 HPO Feb 17, 2009
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0006879 Pontocerebellar atrophy TAS TAS OMIM:606002 HPO Feb 17, 2009
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0006886 Impaired distal vibration sensation PCS PCS PMID:16636238 HPO Feb 17, 2009
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0006981 Decreased distal touch sense TAS TAS 57% OMIM:606002 HPO Feb 17, 2009
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0000639 Nystagmus PCS PCS 8/10 PMID:16636238 HPO Sep 7, 2010
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0001272 Cerebellar atrophy PCS PCS 8/8 PMID:16636238 HPO Sep 7, 2010
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0010831 Impaired proprioception PCS PCS 10/10 PMID:16636238 HPO Sep 7, 2010
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0003477 Peripheral axonal neuropathy PCS PCS 8/8 PMID:16636238 HPO Sep 7, 2010
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0000657 Oculomotor apraxia PCS PCS 10/18 PMID:14736755 HPO Sep 8, 2010
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0000657 Oculomotor apraxia PCS PCS 6/19 PMID:19141356 HPO Sep 8, 2010
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0001315 Reduced tendon reflexes PCS PCS 18/18 PMID:14736755 HPO Sep 8, 2010
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0002066 Gait ataxia PCS PCS 13/18 PMID:14736755 HPO Sep 8, 2010
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0002072 Chorea TAS TAS 4/18 OMIM:606002 HPO Sep 8, 2010
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0001332 Dystonia PCS PCS 5/18 PMID:14736755 HPO Sep 8, 2010
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0002346 Head tremor PCS PCS 2/18 PMID:14736755 HPO Sep 8, 2010
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0006254 Elevated alpha-fetoprotein PCS PCS 18/18 PMID:14736755 HPO Sep 8, 2010
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0001272 Cerebellar atrophy PCS PCS 18/18 PMID:14736755 HPO Sep 8, 2010
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0000639 Nystagmus PCS PCS 7/19 PMID:19141356 HPO Sep 8, 2010
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0001284 Areflexia PCS PCS 17/19 PMID:19141356 HPO Sep 8, 2010
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0001284 Areflexia PCS PCS 14/18 PMID:14736755 HPO Sep 8, 2010
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0002467 Decreased deep tendon reflexes PCS PCS 4/18 PMID:14736755 HPO Sep 8, 2010
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0002346 Head tremor PCS PCS 5/19 PMID:19141356 HPO Sep 8, 2010
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0001272 Cerebellar atrophy PCS PCS 13/13 PMID:19141356 HPO Sep 8, 2010
+MIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 MIM:608465 SENATAXIN SETX HP:0006254 Elevated alpha-fetoprotein PCS PCS 19/19 PMID:19141356 HPO Sep 8, 2010
+OMIM:606002 #606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1; SCAR1;;ATAXIA-OCULOMOTOR APRAXIA 2; AOA2;;ATAXIA-OCULAR APRAXIA 2 HP:0007240 Progressive gait ataxia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > GAIT ATAXIA, PROGRESSIVE OMIM:606002 HPO:skoehler Oct 17, 2012
+OMIM:606002 #606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1; SCAR1;;ATAXIA-OCULOMOTOR APRAXIA 2; AOA2;;ATAXIA-OCULAR APRAXIA 2 HP:0000524 Conjunctival telangiectasia IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > CONJUNCTIVAL TELANGIECTASIA (REPORTED IN 1 FAMILY) OMIM:606002 HPO:skoehler Jun 23, 2013
+OMIM:606002 #606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1; SCAR1;;ATAXIA-OCULOMOTOR APRAXIA 2; AOA2;;ATAXIA-OCULAR APRAXIA 2 HP:0001271 Polyneuropathy IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > POLYNEUROPATHY (98% OF PATIENTS) OMIM:606002 HPO:skoehler Jun 23, 2013
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607014.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607014.tab 2014-10-30 23:02:39 UTC (rev 5219)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607014.tab 2014-10-31 10:58:25 UTC (rev 5220)
@@ -1,51 +1,51 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset 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:607014 HURLER SYNDROME HP:0000280 Coarse facial features HP:0003593 Infantile onset TAS TAS MIM:607014 HPO:probinson 04.08.2012
-MIM:607014 HURLER SYNDROME HP:0007957 Reduction of corneal clarity TAS TAS MIM:607014 HPO:probinson 04.08.2012
-MIM:607014 HURLER SYNDROME HP:0000007 Autosomal recessive inheritance TAS TAS MIM:607014 HPO:probinson 04.08.2012
-MIM:607014 HURLER SYNDROME HP:0001706 Endocardial fibroelastosis TAS TAS 11758 MIM:607014 HPO:probinson 04.08.2012
-MIM:607014 HURLER SYNDROME HP:0001249 Intellectual disability TAS TAS MIM:607014 HPO:probinson 04.08.2012
-MIM:607014 HURLER SYNDROME HP:0100790 Hernia TAS TAS MIM:607014 HPO:probinson 04.08.2012
-MIM:607014 HURLER SYNDROME HP:0001433 Hepatosplenomegaly TAS TAS MIM:607014 HPO:probinson 04.08.2012
-MIM:607014 HURLER SYNDROME HP:0005280 Depressed nasal bridge TAS TAS MIM:607014 HPO:probinson 04.08.2012
-MIM:607014 HURLER SYNDROME HP:0000470 Short neck TAS TAS MIM:607014 HPO:probinson 04.08.2012
-MIM:607014 HURLER SYNDROME HP:0003311 Hypoplasia of the odontoid process TAS TAS MIM:607014 HPO:probinson 04.08.2012
-MIM:607014 HURLER SYNDROME HP:0003320 C1-C2 subluxation TAS TAS 38% MIM:607014 HPO:probinson 04.08.2012
-MIM:607014 HURLER SYNDROME HP:0000943 Dysostosis multiplex TAS TAS MIM:607014 HPO:probinson 04.08.2012
-MIM:607014 HURLER SYNDROME HP:0001653 Mitral regurgitation TAS TAS 10/12 MIM:607014 HPO:probinson 04.08.2012
-MIM:607014 HURLER SYNDROME HP:0001659 Aortic regurgitation TAS TAS 4/12 MIM:607014 HPO:probinson 04.08.2012
-MIM:607014 HURLER SYNDROME HP:0002205 Recurrent respiratory infections TAS TAS 4/12 MIM:607014 HPO:probinson 04.08.2012
-MIM:607014 HURLER SYNDROME HP:0004322 Short stature HP:0011463 Childhood onset TAS TAS Growth is normal until about 2 years of age MIM:607014 HPO:probinson 04.08.2012
-MIM:607014 HURLER SYNDROME HP:0004490 Calvarial hyperostosis HP:0011463 Childhood onset TAS TAS MIM:607014 HPO:probinson 04.08.2012
-MIM:607014 HURLER SYNDROME HP:0002680 J-shaped sella turcica HP:0011463 Childhood onset TAS TAS MIM:607014 HPO:probinson 04.08.2012
-MIM:607014 HURLER SYNDROME HP:0000894 Short clavicles HP:0011463 Childhood onset TAS TAS MIM:607014 HPO:probinson 04.08.2012
-MIM:607014 HURLER SYNDROME HP:0004586 Biconcave vertebral bodies HP:0011463 Childhood onset TAS TAS MIM:607014 HPO:probinson 04.08.2012
-MIM:607014 HURLER SYNDROME HP:0002869 Flared iliac wings HP:0011463 Childhood onset TAS TAS MIM:607014 HPO:probinson 04.08.2012
-MIM:607014 HURLER SYNDROME HP:0005019 Diaphyseal thickening TAS TAS MIM:607014 HPO:probinson 04.08.2012
-MIM:607014 HURLER SYNDROME HP:0001387 Joint stiffness TAS TAS MIM:607014 HPO:probinson 04.08.2012
-MIM:607014 HURLER SYNDROME HP:0002808 Kyphosis HP:0011463 Childhood onset TAS TAS MIM:607014 HPO:probinson 04.08.2012
-MIM:607014 HURLER SYNDROME HP:0001263 Global developmental delay HP:0011463 Childhood onset TAS TAS MIM:607014 HPO:probinson 04.08.2012
-MIM:607014 HURLER SYNDROME HP:0011400 Abnormal CNS myelination TAS TAS MIM:607014 HPO:probinson 04.08.2012
-MIM:607014 HURLER SYNDROME HP:0003541 Urinary glycosaminoglycan excretion TAS TAS MIM:607014 HPO:probinson 04.08.2012
-OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0001537 Umbilical hernia IEA IEA OMIM-CS:ABDOMEN_EXTERNAL FEATURES > UMBILICAL HERNIA OMIM:607014 HPO:skoehler 28.01.2014
-OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0002240 Hepatomegaly IEA IEA OMIM-CS:ABDOMEN_LIVER > HEPATOMEGALY OMIM:607014 HPO:skoehler 28.01.2014
-OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0001744 Splenomegaly IEA IEA OMIM-CS:ABDOMEN_SPLEEN > SPLENOMEGALY OMIM:607014 HPO:skoehler 28.01.2014
-OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0001638 Cardiomyopathy IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > CARDIOMYOPATHY OMIM:607014 HPO:skoehler 28.01.2014
-OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0000023 Inguinal hernia IEA IEA OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > INGUINAL HERNIA OMIM:607014 HPO:skoehler 28.01.2014
-OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0000365 Hearing impairment IEA IEA rare OMIM-CS:HEAD AND NECK_EARS > HEARING LOSS (IN SOME PATIENTS) OMIM:607014 HPO:skoehler 28.01.2014
-OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0000501 Glaucoma IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > GLAUCOMA (IN SOME PATIENTS) OMIM:607014 HPO:skoehler 28.01.2014
-OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0000546 Retinal degeneration IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > RETINAL DEGENERATION (IN SOME PATIENTS) OMIM:607014 HPO:skoehler 28.01.2014
-OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0000293 Full cheeks IEA IEA OMIM-CS:HEAD AND NECK_FACE > FULL CHEEKS OMIM:607014 HPO:skoehler 28.01.2014
-OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0000256 Macrocephaly IEA IEA OMIM-CS:HEAD AND NECK_HEAD > MACROCEPHALY OMIM:607014 HPO:skoehler 28.01.2014
-OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0012471 Thick vermilion border IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > FULL LIPS OMIM:607014 HPO:skoehler 28.01.2014
-OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0000212 Gingival overgrowth IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > GUM HYPERTROPHY OMIM:607014 HPO:skoehler 28.01.2014
-OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0000463 Anteverted nares IEA IEA OMIM-CS:HEAD AND NECK_NOSE > ANTEVERTED NOSTRILS OMIM:607014 HPO:skoehler 28.01.2014
-OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0000455 Broad nasal tip IEA IEA OMIM-CS:HEAD AND NECK_NOSE > BROAD NASAL TIP OMIM:607014 HPO:skoehler 28.01.2014
-OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0000691 Microdontia IEA IEA OMIM-CS:HEAD AND NECK_TEETH > SMALL TEETH OMIM:607014 HPO:skoehler 28.01.2014
-OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0002180 Neurodegeneration IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > NEURODEGENERATION OMIM:607014 HPO:skoehler 28.01.2014
-OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0002344 Progressive neurologic deterioration IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PROGRESSIVE MENTAL DETERIORATION OMIM:607014 HPO:skoehler 28.01.2014
-OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0001371 Flexion contracture IEA IEA OMIM-CS:SKELETAL > JOINT CONTRACTURES OMIM:607014 HPO:skoehler 28.01.2014
-OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0008802 Hypoplasia of the femoral head IEA IEA OMIM-CS:SKELETAL_LIMBS > SMALL FEMORAL HEADS OMIM:607014 HPO:skoehler 28.01.2014
-OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0002673 Coxa valga IEA IEA OMIM-CS:SKELETAL_PELVIS > COXA VALGA OMIM:607014 HPO:skoehler 28.01.2014
-OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0000238 Hydrocephalus IEA IEA OMIM-CS:SKELETAL_SKULL > HYDROCEPHALUS OMIM:607014 HPO:skoehler 28.01.2014
-OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0001007 Hirsutism IEA IEA OMIM-CS:SKIN, NAILS, HAIR_HAIR > HIRSUTISM OMIM:607014 HPO:skoehler 28.01.2014
-OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0007759 Opacification of the corneal stroma IEA IEA OMIM-CS:HEAD AND NECK_EYES > CLOUDY CORNEAS OMIM:607014 HPO:skoehler 06.02.2014
+MIM:607014 HURLER SYNDROME HP:0000280 Coarse facial features HP:0003593 Infantile onset TAS TAS MIM:607014 HPO:probinson Aug 4, 2012
+MIM:607014 HURLER SYNDROME HP:0007957 Corneal opacity TAS TAS MIM:607014 HPO:probinson Aug 4, 2012
+MIM:607014 HURLER SYNDROME HP:0000007 Autosomal recessive inheritance TAS TAS MIM:607014 HPO:probinson Aug 4, 2012
+MIM:607014 HURLER SYNDROME HP:0001706 Endocardial fibroelastosis TAS TAS 11/58 MIM:607014 HPO:probinson Aug 4, 2012
+MIM:607014 HURLER SYNDROME HP:0001249 Intellectual disability TAS TAS MIM:607014 HPO:probinson Aug 4, 2012
+MIM:607014 HURLER SYNDROME HP:0100790 Hernia TAS TAS MIM:607014 HPO:probinson Aug 4, 2012
+MIM:607014 HURLER SYNDROME HP:0001433 Hepatosplenomegaly TAS TAS MIM:607014 HPO:probinson Aug 4, 2012
+MIM:607014 HURLER SYNDROME HP:0005280 Depressed nasal bridge TAS TAS MIM:607014 HPO:probinson Aug 4, 2012
+MIM:607014 HURLER SYNDROME HP:0000470 Short neck TAS TAS MIM:607014 HPO:probinson Aug 4, 2012
+MIM:607014 HURLER SYNDROME HP:0003311 Hypoplasia of the odontoid process TAS TAS MIM:607014 HPO:probinson Aug 4, 2012
+MIM:607014 HURLER SYNDROME HP:0003320 C1-C2 subluxation TAS TAS 38% MIM:607014 HPO:probinson Aug 4, 2012
+MIM:607014 HURLER SYNDROME HP:0000943 Dysostosis multiplex TAS TAS MIM:607014 HPO:probinson Aug 4, 2012
+MIM:607014 HURLER SYNDROME HP:0001653 Mitral regurgitation TAS TAS 10/12 MIM:607014 HPO:probinson Aug 4, 2012
+MIM:607014 HURLER SYNDROME HP:0001659 Aortic regurgitation TAS TAS 4/12 MIM:607014 HPO:probinson Aug 4, 2012
+MIM:607014 HURLER SYNDROME HP:0002205 Recurrent respiratory infections TAS TAS 4/12 MIM:607014 HPO:probinson Aug 4, 2012
+MIM:607014 HURLER SYNDROME HP:0004322 Short stature HP:0011463 Childhood onset TAS TAS Growth is normal until about 2 years of age MIM:607014 HPO:probinson Aug 4, 2012
+MIM:607014 HURLER SYNDROME HP:0004490 Calvarial hyperostosis HP:0011463 Childhood onset TAS TAS MIM:607014 HPO:probinson Aug 4, 2012
+MIM:607014 HURLER SYNDROME HP:0002680 J-shaped sella turcica HP:0011463 Childhood onset TAS TAS MIM:607014 HPO:probinson Aug 4, 2012
+MIM:607014 HURLER SYNDROME HP:0000894 Short clavicles HP:0011463 Childhood onset TAS TAS MIM:607014 HPO:probinson Aug 4, 2012
+MIM:607014 HURLER SYNDROME HP:0004586 Biconcave vertebral bodies HP:0011463 Childhood onset TAS TAS MIM:607014 HPO:probinson Aug 4, 2012
+MIM:607014 HURLER SYNDROME HP:0002869 Flared iliac wings HP:0011463 Childhood onset TAS TAS MIM:607014 HPO:probinson Aug 4, 2012
+MIM:607014 HURLER SYNDROME HP:0005019 Diaphyseal thickening TAS TAS MIM:607014 HPO:probinson Aug 4, 2012
+MIM:607014 HURLER SYNDROME HP:0001387 Joint stiffness TAS TAS MIM:607014 HPO:probinson Aug 4, 2012
+MIM:607014 HURLER SYNDROME HP:0002808 Kyphosis HP:0011463 Childhood onset TAS TAS MIM:607014 HPO:probinson Aug 4, 2012
+MIM:607014 HURLER SYNDROME HP:0001263 Global developmental delay HP:0011463 Childhood onset TAS TAS MIM:607014 HPO:probinson Aug 4, 2012
+MIM:607014 HURLER SYNDROME HP:0011400 Abnormal CNS myelination TAS TAS MIM:607014 HPO:probinson Aug 4, 2012
+MIM:607014 HURLER SYNDROME HP:0003541 Urinary glycosaminoglycan excretion TAS TAS MIM:607014 HPO:probinson Aug 4, 2012
+OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0001537 Umbilical hernia IEA IEA OMIM-CS:ABDOMEN_EXTERNAL FEATURES > UMBILICAL HERNIA OMIM:607014 HPO:skoehler Jan 28, 2014
+OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0002240 Hepatomegaly IEA IEA OMIM-CS:ABDOMEN_LIVER > HEPATOMEGALY OMIM:607014 HPO:skoehler Jan 28, 2014
+OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0001744 Splenomegaly IEA IEA OMIM-CS:ABDOMEN_SPLEEN > SPLENOMEGALY OMIM:607014 HPO:skoehler Jan 28, 2014
+OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0001638 Cardiomyopathy IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > CARDIOMYOPATHY OMIM:607014 HPO:skoehler Jan 28, 2014
+OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0000023 Inguinal hernia IEA IEA OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > INGUINAL HERNIA OMIM:607014 HPO:skoehler Jan 28, 2014
+OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0000365 Hearing impairment IEA IEA rare OMIM-CS:HEAD AND NECK_EARS > HEARING LOSS (IN SOME PATIENTS) OMIM:607014 HPO:skoehler Jan 28, 2014
+OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0000501 Glaucoma IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > GLAUCOMA (IN SOME PATIENTS) OMIM:607014 HPO:skoehler Jan 28, 2014
+OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0000546 Retinal degeneration IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > RETINAL DEGENERATION (IN SOME PATIENTS) OMIM:607014 HPO:skoehler Jan 28, 2014
+OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0000293 Full cheeks IEA IEA OMIM-CS:HEAD AND NECK_FACE > FULL CHEEKS OMIM:607014 HPO:skoehler Jan 28, 2014
+OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0000256 Macrocephaly IEA IEA OMIM-CS:HEAD AND NECK_HEAD > MACROCEPHALY OMIM:607014 HPO:skoehler Jan 28, 2014
+OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0012471 Thick vermilion border IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > FULL LIPS OMIM:607014 HPO:skoehler Jan 28, 2014
+OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0000212 Gingival overgrowth IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > GUM HYPERTROPHY OMIM:607014 HPO:skoehler Jan 28, 2014
+OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0000463 Anteverted nares IEA IEA OMIM-CS:HEAD AND NECK_NOSE > ANTEVERTED NOSTRILS OMIM:607014 HPO:skoehler Jan 28, 2014
+OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0000455 Broad nasal tip IEA IEA OMIM-CS:HEAD AND NECK_NOSE > BROAD NASAL TIP OMIM:607014 HPO:skoehler Jan 28, 2014
+OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0000691 Microdontia IEA IEA OMIM-CS:HEAD AND NECK_TEETH > SMALL TEETH OMIM:607014 HPO:skoehler Jan 28, 2014
+OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0002180 Neurodegeneration IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > NEURODEGENERATION OMIM:607014 HPO:skoehler Jan 28, 2014
+OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0002344 Progressive neurologic deterioration IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PROGRESSIVE MENTAL DETERIORATION OMIM:607014 HPO:skoehler Jan 28, 2014
+OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0001371 Flexion contracture IEA IEA OMIM-CS:SKELETAL > JOINT CONTRACTURES OMIM:607014 HPO:skoehler Jan 28, 2014
+OMIM:607014 #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H HP:0008802 Hypoplasia of the femoral head IEA IEA OMIM-CS:SKELETAL_LIMBS > SMALL FEMORAL HEADS OMIM:607014 HPO:skoehler Jan 28, 2014
+OMIM:607014 #607014 HURLER SY...
[truncated message content] |
|
From: <cmu...@us...> - 2014-10-30 23:02:48
|
Revision: 5219
http://sourceforge.net/p/obo/svn/5219
Author: cmungall
Date: 2014-10-30 23:02:39 +0000 (Thu, 30 Oct 2014)
Log Message:
-----------
new
Added Paths:
-----------
uberon/trunk/composite-aba.obo
Added: uberon/trunk/composite-aba.obo
===================================================================
--- uberon/trunk/composite-aba.obo (rev 0)
+++ uberon/trunk/composite-aba.obo 2014-10-30 23:02:39 UTC (rev 5219)
@@ -0,0 +1,268604 @@
+format-version: 1.2
+subsetdef: cumbo "CUMBO"
+subsetdef: cyclostome_subset "cyclostome structures"
+subsetdef: defined_by_ordinal_series "classes that are defined by relative position counting from first in a series of elements along an axis in an individual organism rather than by strict homology"
+subsetdef: developmental_classification "developmental_classification"
+subsetdef: disjointness_axiom_removed "A class which has a weakened disjointness axiom, to avoid inconsistency. These are kept separately in the uberon_disjoint_from_strict ontology."
+subsetdef: dubious_grouping "Indicates that subclasses in AOs may be inappropriately linked"
+subsetdef: early_development "A class that represents an early developmental structure, like a blastocyst. This part of the ontology is undergoing review to remove inappropriate grouping classes."
+subsetdef: efo_slim "EFO slim"
+subsetdef: emapa_ehdaa2 "derived from the union of EHDAA2 and EMAPA - still to be checked"
+subsetdef: feed_aligned "subset of classes that have logical defs text defs and synonyms aligned with FEED"
+subsetdef: functional_classification "functional_classification"
+subsetdef: grouping_class "Subset consisting of classes creating for grouping purposes"
+subsetdef: inconsistent_with_fma "classes that have some inconsistency with FMA"
+subsetdef: loose_concept "loose concept"
+subsetdef: major_organ "somewhat fuzzy grouping for analysis purposes, currently composed of something like: liver, heart, skeletal, kidney, bladder, brain, skin, mouth, esophagus, stomach, small intestine, large intestines, trachea nose, lungs, brain, spinal cord, peripheral nerves, kidneys, ureters, bladder, urethra, gonads"
+subsetdef: metazoa_core "core classes typically found across metazoa. one purpose is to create a rough set of terms that could be used to start a new metazoan AO. Note this subset is not yet fully fleshed out"
+subsetdef: non_informative "abstract class brought in to group ontology classes but not informative"
+subsetdef: organ_slim "organs, excluding individual muscles and skeletal elements"
+subsetdef: phenotype_rcn "A subset specifically created for the 2012 Phenotype RCN meeting. Includes some human-specific terms that may eventually be removed when they are adequately represented with part of relationships in FMA"
+subsetdef: uberon_slim "Uberon slim - somewhat arbitrary subset that excludes obscure terms and deep compositional terms"
+subsetdef: ubprop:upper_level "abstract upper-level terms not directly useful for analysis"
+subsetdef: unverified_taxonomic_grouping "Indicates that the class encompasses classes from other AOs that have not been verified"
+subsetdef: upper_level "abstract upper-level terms not directly useful for analysis"
+subsetdef: upper_ontology_conflict "Terms in this subset group together terms from different anatomy ontologies that have conflicting upper ontology/CARO assignments. For example, in FMA the naris is immaterial and in ZFA it is an organism subdivision."
+subsetdef: vertebrate_core "core classes typically found across vertebrates. one purpose is to create a rough set of terms that could be used to start a new vertebrate AO"
+subsetdef: vessel_or_tree "A term classified differently in FMA due to its treatment of branching structures - to be reviewed and revised by editors"
+synonymtypedef: ABBREVIATION "abbreviation"
+synonymtypedef: COMPARATIVE_PREFERRED "preferred term in the context of comparative anatomy"
+synonymtypedef: DEPRECATED "A historic synonym, no longer encouraged"
+synonymtypedef: DEVELOPMENTAL "developmental term"
+synonymtypedef: DUBIOUS "dubious or contested synonym"
+synonymtypedef: HOMOLOGY "a synonym made on the basis of a possibly homologous structure in another species"
+synonymtypedef: HUMAN_PREFERRED "preferred term when talking about an instance of this class in Homo sapiens"
+synonymtypedef: INCONSISTENT "indicates that a synonym is used in an inconsistent or confusing way, typically between species"
+synonymtypedef: LATIN "latin term"
+synonymtypedef: NON_AMNIOTE "synonym that is inappropriate for amniotes"
+synonymtypedef: NON_MAMMAL "synonym that is inappropriate for mammals"
+synonymtypedef: PENDING_REVIEW "expert consultation and attribution required"
+synonymtypedef: PLURAL "plural term"
+synonymtypedef: SENSU "taxonomic disambiguation"
+remark: Includes Ontology(OntologyID(Anonymous-3)) [Axioms: 0 Logical Axioms: 0]
+remark: Includes Ontology(OntologyID(OntologyIRI(<http://purl.obolibrary.org/obo/uberon/bridge/aba.owl>))) [Axioms: 8934 Logical Axioms: 4352]
+remark: Includes Ontology(OntologyID(OntologyIRI(<http://purl.obolibrary.org/obo/uberon/bridge/uberon-bridge-to-aba.owl>) VersionIRI(<http://purl.obolibrary.org/obo/uberon/bridge/uberon-bridge-to-aba/2014-10-30/uberon/bridge/uberon-bridge-to-aba.owl>))) [Axioms: 1679 Logical Axioms: 315]
+remark: Includes Ontology(OntologyID(OntologyIRI(<http://purl.obolibrary.org/obo/uberon/merged.owl>) VersionIRI(<http://purl.obolibrary.org/obo/uberon/releases/2014-10-30/merged.owl>))) [Axioms: 236941 Logical Axioms: 51298]
+ontology: uberon/composite-aba
+
+[Term]
+id: ABA:A13
+name: Dopaminergic A13 group (mouse brain)
+namespace: aba
+is_a: UBERON:0003048 ! regional part of hypothalamus
+relationship: part_of UBERON:0001907 ! zona incerta
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/A13.html xsd:string
+
+[Term]
+id: ABA:ABAMouse
+name: Allen Brain Atlas Adult Mouse Ontology
+namespace: aba
+is_a: UBERON:0000481 ! multi-tissue structure
+relationship: part_of ABA:structure_graphs
+
+[Term]
+id: ABA:ACA
+name: Anterior cingulate area (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of UBERON:0001950 ! neocortex
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACA.html xsd:string
+
+[Term]
+id: ABA:ACA1
+name: Anterior cingulate area, layer 1 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:ACA ! Anterior cingulate area (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACA1.html xsd:string
+
+[Term]
+id: ABA:ACA2-3
+name: Anterior cingulate area, layer 2/3 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:ACA ! Anterior cingulate area (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACA2%2F3.html xsd:string
+
+[Term]
+id: ABA:ACA5
+name: Anterior cingulate area, layer 5 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:ACA ! Anterior cingulate area (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACA5.html xsd:string
+
+[Term]
+id: ABA:ACA6a
+name: Anterior cingulate area, layer 6a (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:ACA ! Anterior cingulate area (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACA6a.html xsd:string
+
+[Term]
+id: ABA:ACA6b
+name: Anterior cingulate area, layer 6b (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:ACA ! Anterior cingulate area (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACA6b.html xsd:string
+
+[Term]
+id: ABA:ACAd
+name: Anterior cingulate area, dorsal part (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:ACA ! Anterior cingulate area (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACAd.html xsd:string
+
+[Term]
+id: ABA:ACAd1
+name: Anterior cingulate area, dorsal part, layer 1 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:ACAd ! Anterior cingulate area, dorsal part (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACAd1.html xsd:string
+
+[Term]
+id: ABA:ACAd2-3
+name: Anterior cingulate area, dorsal part, layer 2/3 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:ACAd ! Anterior cingulate area, dorsal part (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACAd2%2F3.html xsd:string
+
+[Term]
+id: ABA:ACAd5
+name: Anterior cingulate area, dorsal part, layer 5 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:ACAd ! Anterior cingulate area, dorsal part (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACAd5.html xsd:string
+
+[Term]
+id: ABA:ACAd6a
+name: Anterior cingulate area, dorsal part, layer 6a (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:ACAd ! Anterior cingulate area, dorsal part (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACAd6a.html xsd:string
+
+[Term]
+id: ABA:ACAd6b
+name: Anterior cingulate area, dorsal part, layer 6b (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:ACAd ! Anterior cingulate area, dorsal part (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACAd6b.html xsd:string
+
+[Term]
+id: ABA:ACAv
+name: Anterior cingulate area, ventral part (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:ACA ! Anterior cingulate area (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACAv.html xsd:string
+
+[Term]
+id: ABA:ACAv1
+name: Anterior cingulate area, ventral part, layer 1 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:ACAv ! Anterior cingulate area, ventral part (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACAv1.html xsd:string
+
+[Term]
+id: ABA:ACAv2-3
+name: Anterior cingulate area, ventral part, layer 2/3 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:ACAv ! Anterior cingulate area, ventral part (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACAv2%2F3.html xsd:string
+
+[Term]
+id: ABA:ACAv5
+name: Anterior cingulate area, ventral part, layer 5 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:ACAv ! Anterior cingulate area, ventral part (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACAv5.html xsd:string
+
+[Term]
+id: ABA:ACAv6a
+name: Anterior cingulate area, ventral part, layer 6a (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:ACAv ! Anterior cingulate area, ventral part (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACAv6a.html xsd:string
+
+[Term]
+id: ABA:ACAv6b
+name: Anterior cingulate area, ventral part, layer 6b (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:ACAv ! Anterior cingulate area, ventral part (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACAvb.html xsd:string
+
+[Term]
+id: ABA:ACVI
+name: Accessory abducens nucleus (mouse brain)
+namespace: aba
+is_a: UBERON:0002678 ! regional part of medulla oblongata
+relationship: part_of ABA:MY-mot ! Medulla, motor related (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACVI.html xsd:string
+
+[Term]
+id: ABA:ACVII
+name: Accessory facial motor nucleus (mouse brain)
+namespace: aba
+is_a: UBERON:0002678 ! regional part of medulla oblongata
+relationship: part_of ABA:MY-mot ! Medulla, motor related (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ACVII.html xsd:string
+
+[Term]
+id: ABA:ADP
+name: Anterodorsal preoptic nucleus (mouse brain)
+namespace: aba
+is_a: UBERON:0003048 ! regional part of hypothalamus
+relationship: part_of ABA:PVR ! Periventricular region (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ADP.html xsd:string
+
+[Term]
+id: ABA:AHA
+name: Anterior hypothalamic area (mouse brain)
+namespace: aba
+is_a: UBERON:0003048 ! regional part of hypothalamus
+relationship: part_of ABA:PVR ! Periventricular region (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AHA.html xsd:string
+
+[Term]
+id: ABA:AI
+name: Agranular insular area (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of UBERON:0001950 ! neocortex
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AI.html xsd:string
+
+[Term]
+id: ABA:AId
+name: Agranular insular area, dorsal part (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AI ! Agranular insular area (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AId.html xsd:string
+
+[Term]
+id: ABA:AId1
+name: Agranular insular area, dorsal part, layer 1 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AId ! Agranular insular area, dorsal part (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AId1.html xsd:string
+
+[Term]
+id: ABA:AId2-3
+name: Agranular insular area, dorsal part, layer 2/3 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AId ! Agranular insular area, dorsal part (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AId2%2F3.html xsd:string
+
+[Term]
+id: ABA:AId5
+name: Agranular insular area, dorsal part, layer 5 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AId ! Agranular insular area, dorsal part (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AId5.html xsd:string
+
+[Term]
+id: ABA:AId6a
+name: Agranular insular area, dorsal part, layer 6a (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AId ! Agranular insular area, dorsal part (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AId6a.html xsd:string
+
+[Term]
+id: ABA:AId6b
+name: Agranular insular area, dorsal part, layer 6b (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AId ! Agranular insular area, dorsal part (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AId6b.html xsd:string
+
+[Term]
+id: ABA:AIp
+name: Agranular insular area, posterior part (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AI ! Agranular insular area (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AIp.html xsd:string
+
+[Term]
+id: ABA:AIp1
+name: Agranular insular area, posterior part, layer 1 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AIp ! Agranular insular area, posterior part (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AIp1.html xsd:string
+
+[Term]
+id: ABA:AIp2-3
+name: Agranular insular area, posterior part, layer 2/3 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AIp ! Agranular insular area, posterior part (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AIp2%2F3.html xsd:string
+
+[Term]
+id: ABA:AIp5
+name: Agranular insular area, posterior part, layer 5 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AIp ! Agranular insular area, posterior part (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AIp5.html xsd:string
+
+[Term]
+id: ABA:AIp6a
+name: Agranular insular area, posterior part, layer 6a (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AIp ! Agranular insular area, posterior part (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AIp6a.html xsd:string
+
+[Term]
+id: ABA:AIp6b
+name: Agranular insular area, posterior part, layer 6b (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AIp ! Agranular insular area, posterior part (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AIp6b.html xsd:string
+
+[Term]
+id: ABA:AIv
+name: Agranular insular area, ventral part (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AI ! Agranular insular area (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AIv.html xsd:string
+
+[Term]
+id: ABA:AIv1
+name: Agranular insular area, ventral part, layer 1 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AIv ! Agranular insular area, ventral part (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AIv1.html xsd:string
+
+[Term]
+id: ABA:AIv2-3
+name: Agranular insular area, ventral part, layer 2/3 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AIv ! Agranular insular area, ventral part (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AIv2%2F3.html xsd:string
+
+[Term]
+id: ABA:AIv5
+name: Agranular insular area, ventral part, layer 5 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AIv ! Agranular insular area, ventral part (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AIv5.html xsd:string
+
+[Term]
+id: ABA:AIv6a
+name: Agranular insular area, ventral part, layer 6a (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AIv ! Agranular insular area, ventral part (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AIv6a.html xsd:string
+
+[Term]
+id: ABA:AIv6b
+name: Agranular insular area, ventral part, layer 6b (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AIv ! Agranular insular area, ventral part (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AIv6b.html xsd:string
+
+[Term]
+id: ABA:AMBd
+name: Nucleus ambiguus, dorsal division (mouse brain)
+namespace: aba
+is_a: UBERON:0002678 ! regional part of medulla oblongata
+relationship: part_of UBERON:0001719 ! nucleus ambiguus
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AMBd.html xsd:string
+
+[Term]
+id: ABA:AMBv
+name: Nucleus ambiguus, ventral division (mouse brain)
+namespace: aba
+is_a: UBERON:0002678 ! regional part of medulla oblongata
+relationship: part_of UBERON:0001719 ! nucleus ambiguus
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AMBv.html xsd:string
+
+[Term]
+id: ABA:AMd
+name: Anteromedial nucleus, dorsal part (mouse brain)
+namespace: aba
+is_a: UBERON:0002784 ! regional part of diencephalon
+relationship: part_of UBERON:0002681 ! anteromedial nucleus of thalamus
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AMd.html xsd:string
+
+[Term]
+id: ABA:AMv
+name: Anteromedial nucleus, ventral part (mouse brain)
+namespace: aba
+is_a: UBERON:0002784 ! regional part of diencephalon
+relationship: part_of UBERON:0002681 ! anteromedial nucleus of thalamus
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AMv.html xsd:string
+
+[Term]
+id: ABA:AON1
+name: Anterior olfactory nucleus, layer 1 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of UBERON:0002266 ! anterior olfactory nucleus
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AON1.html xsd:string
+
+[Term]
+id: ABA:AON2
+name: Anterior olfactory nucleus, layer 2 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of UBERON:0002266 ! anterior olfactory nucleus
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AON2.html xsd:string
+
+[Term]
+id: ABA:AONd
+name: Anterior olfactory nucleus, dorsal part (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of UBERON:0002266 ! anterior olfactory nucleus
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AONd.html xsd:string
+
+[Term]
+id: ABA:AONe
+name: Anterior olfactory nucleus, external part (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of UBERON:0002266 ! anterior olfactory nucleus
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AONe.html xsd:string
+
+[Term]
+id: ABA:AONl
+name: Anterior olfactory nucleus, lateral part (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of UBERON:0002266 ! anterior olfactory nucleus
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AONl.html xsd:string
+
+[Term]
+id: ABA:AONm
+name: Anterior olfactory nucleus, medial part (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of UBERON:0002266 ! anterior olfactory nucleus
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AONm.html xsd:string
+
+[Term]
+id: ABA:AONpv
+name: Anterior olfactory nucleus, posteroventral part (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of UBERON:0002266 ! anterior olfactory nucleus
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AONpv.html xsd:string
+
+[Term]
+id: ABA:APN
+name: Anterior pretectal nucleus (mouse brain)
+namespace: aba
+is_a: UBERON:0002966 ! regional part of midbrain tectum
+is_a: UBERON:0003047 ! regional part of pretectal region
+relationship: part_of UBERON:0001944 ! pretectal region
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/APN.html xsd:string
+
+[Term]
+id: ABA:ASO
+name: Accessory supraoptic group (mouse brain)
+namespace: aba
+is_a: UBERON:0003048 ! regional part of hypothalamus
+relationship: part_of UBERON:0002271 ! periventricular zone of hypothalamus
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/ASO.html xsd:string
+
+[Term]
+id: ABA:AUD
+name: Auditory areas (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of UBERON:0001950 ! neocortex
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUD.html xsd:string
+
+[Term]
+id: ABA:AUDd
+name: Dorsal auditory area (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AUD ! Auditory areas (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDd.html xsd:string
+
+[Term]
+id: ABA:AUDd1
+name: Dorsal auditory area, layer 1 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AUDd ! Dorsal auditory area (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDd1.html xsd:string
+
+[Term]
+id: ABA:AUDd2-3
+name: Dorsal auditory area, layer 2/3 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AUDd ! Dorsal auditory area (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDd2%2F3.html xsd:string
+
+[Term]
+id: ABA:AUDd4
+name: Dorsal auditory area, layer 4 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AUDd ! Dorsal auditory area (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDd4.html xsd:string
+
+[Term]
+id: ABA:AUDd5
+name: Dorsal auditory area, layer 5 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AUDd ! Dorsal auditory area (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDd5.html xsd:string
+
+[Term]
+id: ABA:AUDd6a
+name: Dorsal auditory area, layer 6a (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AUDd ! Dorsal auditory area (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDd6a.html xsd:string
+
+[Term]
+id: ABA:AUDd6b
+name: Dorsal auditory area, layer 6b (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AUDd ! Dorsal auditory area (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDd6b.html xsd:string
+
+[Term]
+id: ABA:AUDp
+name: Primary auditory area (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AUD ! Auditory areas (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDp.html xsd:string
+
+[Term]
+id: ABA:AUDp1
+name: Primary auditory area, layer 1 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AUDp ! Primary auditory area (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDp1.html xsd:string
+
+[Term]
+id: ABA:AUDp2-3
+name: Primary auditory area, layer 2/3 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AUDp ! Primary auditory area (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDp2%2F3.html xsd:string
+
+[Term]
+id: ABA:AUDp4
+name: Primary auditory area, layer 4 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AUDp ! Primary auditory area (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDp4.html xsd:string
+
+[Term]
+id: ABA:AUDp5
+name: Primary auditory area, layer 5 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AUDp ! Primary auditory area (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDp5.html xsd:string
+
+[Term]
+id: ABA:AUDp6a
+name: Primary auditory area, layer 6a (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AUDp ! Primary auditory area (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDp6a.html xsd:string
+
+[Term]
+id: ABA:AUDp6b
+name: Primary auditory area, layer 6b (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AUDp ! Primary auditory area (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDp6b.html xsd:string
+
+[Term]
+id: ABA:AUDpo
+name: Posterior auditory area (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AUD ! Auditory areas (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDpo.html xsd:string
+
+[Term]
+id: ABA:AUDpo1
+name: Posterior auditory area, layer 1 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AUDpo ! Posterior auditory area (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDpo1.html xsd:string
+
+[Term]
+id: ABA:AUDpo2-3
+name: Posterior auditory area, layer 2/3 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AUDpo ! Posterior auditory area (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDpo2%2F3.html xsd:string
+
+[Term]
+id: ABA:AUDpo4
+name: Posterior auditory area, layer 4 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AUDpo ! Posterior auditory area (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDpo4.html xsd:string
+
+[Term]
+id: ABA:AUDpo5
+name: Posterior auditory area, layer 5 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AUDpo ! Posterior auditory area (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDpo5.html xsd:string
+
+[Term]
+id: ABA:AUDpo6a
+name: Posterior auditory area, layer 6a (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AUDpo ! Posterior auditory area (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDpo6a.html xsd:string
+
+[Term]
+id: ABA:AUDpo6b
+name: Posterior auditory area, layer 6b (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AUDpo ! Posterior auditory area (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDp06b.html xsd:string
+
+[Term]
+id: ABA:AUDv
+name: Ventral auditory area (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AUD ! Auditory areas (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDv.html xsd:string
+
+[Term]
+id: ABA:AUDv1
+name: Ventral auditory area, layer 1 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AUDv ! Ventral auditory area (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDv1.html xsd:string
+
+[Term]
+id: ABA:AUDv2-3
+name: Ventral auditory area, layer 2/3 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AUDv ! Ventral auditory area (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDv2%2F3.html xsd:string
+
+[Term]
+id: ABA:AUDv4
+name: Ventral auditory area, layer 4 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AUDv ! Ventral auditory area (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDv4.html xsd:string
+
+[Term]
+id: ABA:AUDv5
+name: Ventral auditory area, layer 5 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AUDv ! Ventral auditory area (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDv5.html xsd:string
+
+[Term]
+id: ABA:AUDv6a
+name: Ventral auditory area, layer 6a (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AUDv ! Ventral auditory area (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDv6a.html xsd:string
+
+[Term]
+id: ABA:AUDv6b
+name: Ventral auditory area, layer 6b (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:AUDv ! Ventral auditory area (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AUDv6b.html xsd:string
+
+[Term]
+id: ABA:AVP
+name: Anteroventral preoptic nucleus (mouse brain)
+namespace: aba
+is_a: UBERON:0003048 ! regional part of hypothalamus
+relationship: part_of ABA:PVR ! Periventricular region (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/AVP.html xsd:string
+
+[Term]
+id: ABA:BA
+name: Bed nucleus of the accessory olfactory tract (mouse brain)
+namespace: aba
+is_a: UBERON:0002791 ! regional part of telencephalon
+relationship: part_of ABA:sAMY ! Striatum-like amygdalar nuclei (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/BA.html xsd:string
+
+[Term]
+id: ABA:BLAa
+name: Basolateral amygdalar nucleus, anterior part (mouse brain)
+namespace: aba
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of UBERON:0002887 ! basal amygdaloid nucleus
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/BLAa.html xsd:string
+
+[Term]
+id: ABA:BLAp
+name: Basolateral amygdalar nucleus, posterior part (mouse brain)
+namespace: aba
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of UBERON:0002887 ! basal amygdaloid nucleus
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/BLAp.html xsd:string
+
+[Term]
+id: ABA:BLAv
+name: Basolateral amygdalar nucleus, ventral part (mouse brain)
+namespace: aba
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of UBERON:0002887 ! basal amygdaloid nucleus
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/BLAv.html xsd:string
+
+[Term]
+id: ABA:BMAa
+name: Basomedial amygdalar nucleus, anterior part (mouse brain)
+namespace: aba
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of UBERON:0002889 ! medial part of basal amygdaloid nucleus
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/BMAa.html xsd:string
+
+[Term]
+id: ABA:BMAp
+name: Basomedial amygdalar nucleus, posterior part (mouse brain)
+namespace: aba
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of UBERON:0002889 ! medial part of basal amygdaloid nucleus
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/BMAp.html xsd:string
+
+[Term]
+id: ABA:BSTal
+name: Bed nuclei of the stria terminalis, anterior division, anterolateral area (mouse brain)
+namespace: aba
+is_a: UBERON:0002791 ! regional part of telencephalon
+relationship: part_of UBERON:0011173 ! anterior division of bed nuclei of stria terminalis
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/BSTal.html xsd:string
+
+[Term]
+id: ABA:BSTam
+name: Bed nuclei of the stria terminalis, anterior division, anteromedial area] (mouse brain)
+namespace: aba
+is_a: UBERON:0002791 ! regional part of telencephalon
+relationship: part_of UBERON:0011173 ! anterior division of bed nuclei of stria terminalis
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/BSTam.html xsd:string
+
+[Term]
+id: ABA:BSTd
+name: Bed nuclei of the stria terminalis, posterior division, dorsal nucleus (mouse brain)
+namespace: aba
+is_a: UBERON:0002791 ! regional part of telencephalon
+relationship: part_of UBERON:0011177 ! posterior division of bed nuclei of stria terminalis
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/BSTd.html xsd:string
+
+[Term]
+id: ABA:BSTdm
+name: Bed nuclei of the stria terminalis, anterior division, dorsomedial nucleus (mouse brain)
+namespace: aba
+is_a: UBERON:0002791 ! regional part of telencephalon
+relationship: part_of UBERON:0011173 ! anterior division of bed nuclei of stria terminalis
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/BSTdm.html xsd:string
+
+[Term]
+id: ABA:BSTif
+name: Bed nuclei of the stria terminalis, posterior division, interfascicular nucleus (mouse brain)
+namespace: aba
+is_a: UBERON:0002791 ! regional part of telencephalon
+relationship: part_of UBERON:0011177 ! posterior division of bed nuclei of stria terminalis
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/BSTif.html xsd:string
+
+[Term]
+id: ABA:BSTju
+name: Bed nuclei of the stria terminalis, anterior division, juxtacapsular nucleus (mouse brain)
+namespace: aba
+is_a: UBERON:0002791 ! regional part of telencephalon
+relationship: part_of UBERON:0011173 ! anterior division of bed nuclei of stria terminalis
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/BSTju.html xsd:string
+
+[Term]
+id: ABA:BSTrh
+name: Bed nuclei of the stria terminalis, anterior division, rhomboid nucleus (mouse brain)
+namespace: aba
+is_a: UBERON:0002791 ! regional part of telencephalon
+relationship: part_of UBERON:0011173 ! anterior division of bed nuclei of stria terminalis
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/BSTrh.html xsd:string
+
+[Term]
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+name: Bed nuclei of the stria terminalis, posterior division, strial extension (mouse brain)
+namespace: aba
+is_a: UBERON:0002791 ! regional part of telencephalon
+relationship: part_of UBERON:0011177 ! posterior division of bed nuclei of stria terminalis
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/BSTse.html xsd:string
+
+[Term]
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+name: Bed nuclei of the stria terminalis, anterior division, ventral nucleus (mouse brain)
+namespace: aba
+is_a: UBERON:0002791 ! regional part of telencephalon
+relationship: part_of UBERON:0011173 ! anterior division of bed nuclei of stria terminalis
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/BSTv.html xsd:string
+
+[Term]
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+name: Central amygdalar nucleus (mouse brain)
+namespace: aba
+is_a: UBERON:0002791 ! regional part of telencephalon
+relationship: part_of ABA:sAMY ! Striatum-like amygdalar nuclei (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/CEA.html xsd:string
+
+[Term]
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+name: Central amygdalar nucleus, capsular part (mouse brain)
+namespace: aba
+is_a: UBERON:0002791 ! regional part of telencephalon
+relationship: part_of ABA:CEA ! Central amygdalar nucleus (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/CEAc.html xsd:string
+
+[Term]
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+name: Central amygdalar nucleus, lateral part (mouse brain)
+namespace: aba
+is_a: UBERON:0002791 ! regional part of telencephalon
+relationship: part_of ABA:CEA ! Central amygdalar nucleus (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/CEAl.html xsd:string
+
+[Term]
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+name: Central amygdalar nucleus, medial part (mouse brain)
+namespace: aba
+is_a: UBERON:0002791 ! regional part of telencephalon
+relationship: part_of ABA:CEA ! Central amygdalar nucleus (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/CEAm.html xsd:string
+
+[Term]
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+name: Central linear nucleus raphe (mouse brain)
+namespace: aba
+is_a: UBERON:0002635 ! regional part of midbrain tegmentum
+relationship: part_of UBERON:0007412 ! midbrain raphe nuclei
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/CLI.html xsd:string
+
+[Term]
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+name: Cerebral nuclei (mouse brain)
+namespace: aba
+is_a: UBERON:0002791 ! regional part of telencephalon
+relationship: part_of UBERON:0001893 ! telencephalon
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/CNU.html xsd:string
+
+[Term]
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+name: Granular lamina of the cochlear nuclei (mouse brain)
+namespace: aba
+is_a: UBERON:0002621 ! regional part of cochlear nuclear complex
+relationship: part_of UBERON:0002610 ! cochlear nuclear complex
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/CNlam.html xsd:string
+
+[Term]
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+name: Cochlear nucleus, subpedunclular granular region (mouse brain)
+namespace: aba
+is_a: UBERON:0002621 ! regional part of cochlear nuclear complex
+relationship: part_of UBERON:0002610 ! cochlear nuclear complex
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/CNspg.html xsd:string
+
+[Term]
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+name: Cortical amygdalar area (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of UBERON:0002264 ! olfactory bulb
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/COA.html xsd:string
+
+[Term]
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+name: Cortical amygdalar area, anterior part (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:COA ! Cortical amygdalar area (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/COAa.html xsd:string
+
+[Term]
+id: ABA:COAa1
+name: Cortical amygdalar area, anterior part, layer 1 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:COAa ! Cortical amygdalar area, anterior part (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/COAa1.html xsd:string
+
+[Term]
+id: ABA:COAa2
+name: Cortical amygdalar area, anterior part, layer 2 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:COAa ! Cortical amygdalar area, anterior part (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/COAa2.html xsd:string
+
+[Term]
+id: ABA:COAa3
+name: Cortical amygdalar area, anterior part, layer 3 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:COAa ! Cortical amygdalar area, anterior part (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/COAa3.html xsd:string
+
+[Term]
+id: ABA:COAp
+name: Cortical amygdalar area, posterior part (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:COA ! Cortical amygdalar area (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/COAp.html xsd:string
+
+[Term]
+id: ABA:COApl
+name: Cortical amygdalar area, posterior part, lateral zone (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:COAp ! Cortical amygdalar area, posterior part (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/COApl.html xsd:string
+
+[Term]
+id: ABA:COApl1
+name: Cortical amygdalar area, posterior part, lateral zone, layer 1 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:COApl ! Cortical amygdalar area, posterior part, lateral zone (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/COApl1.html xsd:string
+
+[Term]
+id: ABA:COApl1-2
+name: Cortical amygdalar area, posterior part, lateral zone, layer 1-2 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:COApl ! Cortical amygdalar area, posterior part, lateral zone (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/COApl1-2.html xsd:string
+
+[Term]
+id: ABA:COApl1-3
+name: Cortical amygdalar area, posterior part, lateral zone, layer 1-3 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:COApl ! Cortical amygdalar area, posterior part, lateral zone (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/COApl1-3.html xsd:string
+
+[Term]
+id: ABA:COApl2
+name: Cortical amygdalar area, posterior part, lateral zone, layer 2 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:COApl ! Cortical amygdalar area, posterior part, lateral zone (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/COApl2.html xsd:string
+
+[Term]
+id: ABA:COApl3
+name: Cortical amygdalar area, posterior part, lateral zone, layer 3 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:COApl ! Cortical amygdalar area, posterior part, lateral zone (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/COApl3.html xsd:string
+
+[Term]
+id: ABA:COApm
+name: Cortical amygdalar area, posterior part, medial zone (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:COAp ! Cortical amygdalar area, posterior part (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/COApm.html xsd:string
+
+[Term]
+id: ABA:COApm1
+name: Cortical amygdalar area, posterior part, medial zone, layer 1 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:COApm ! Cortical amygdalar area, posterior part, medial zone (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/COApm1.html xsd:string
+
+[Term]
+id: ABA:COApm1-2
+name: Cortical amygdalar area, posterior part, medial zone, layer 1-2 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:COApm ! Cortical amygdalar area, posterior part, medial zone (mouse brain)
+
+[Term]
+id: ABA:COApm1-3
+name: Cortical amygdalar area, posterior part, medial zone, layer 1-3 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:COApm ! Cortical amygdalar area, posterior part, medial zone (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/COApm1-3.html xsd:string
+
+[Term]
+id: ABA:COApm2
+name: Cortical amygdalar area, posterior part, medial zone, layer 2 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:COApm ! Cortical amygdalar area, posterior part, medial zone (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/COApm2.html xsd:string
+
+[Term]
+id: ABA:COApm3
+name: Cortical amygdalar area, posterior part, medial zone, layer 3 (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:COApm ! Cortical amygdalar area, posterior part, medial zone (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/COApm3.html xsd:string
+
+[Term]
+id: ABA:CSl
+name: Superior central nucleus raphe, lateral part (mouse brain)
+namespace: aba
+is_a: UBERON:0002635 ! regional part of midbrain tegmentum
+is_a: UBERON:0002680 ! regional part of metencephalon
+relationship: part_of UBERON:0003004 ! median raphe nucleus
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/CSl.html xsd:string
+
+[Term]
+id: ABA:CSm
+name: Superior central nucleus raphe, medial part (mouse brain)
+namespace: aba
+is_a: UBERON:0002635 ! regional part of midbrain tegmentum
+is_a: UBERON:0002680 ! regional part of metencephalon
+relationship: part_of UBERON:0003004 ! median raphe nucleus
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/CSm.html xsd:string
+
+[Term]
+id: ABA:CTX2-3
+name: Cerebral cortex, layer 2-3 (mouse brain)
+namespace: aba
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of UBERON:0000956 ! cerebral cortex
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/CTX2%2F3.html xsd:string
+
+[Term]
+id: ABA:CTX6a
+name: Cerebral cortex, layer 6a (mouse brain)
+namespace: aba
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of UBERON:0000956 ! cerebral cortex
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/CTX6a.html xsd:string
+
+[Term]
+id: ABA:CTXsp
+name: Cortical subplate (mouse brain)
+namespace: aba
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of UBERON:0000956 ! cerebral cortex
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/CTXsp.html xsd:string
+
+[Term]
+id: ABA:CTXsp6b
+name: Layer 6b, isocortex (mouse brain)
+namespace: aba
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:CTXsp ! Cortical subplate (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/6b.html xsd:string
+
+[Term]
+id: ABA:CUL4-5
+name: Lobules IV-V (mouse brain)
+namespace: aba
+is_a: UBERON:0002749 ! regional part of cerebellar cortex
+relationship: part_of UBERON:0007763 ! cerebellum culmen
+property_value: rdfs:isDefinedBy "http://mouse.brain-map.org/atlas/coronal/CUL4, 5.html" xsd:string
+
+[Term]
+id: ABA:DGcr
+name: Dentate gyrus crest (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of UBERON:0001885 ! dentate gyrus of hippocampal formation
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/DGcr.html xsd:string
+
+[Term]
+id: ABA:DGcr-mo
+name: Dentate gyrus crest, molecular layer (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:DGcr ! Dentate gyrus crest (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/DGcr-mo.html xsd:string
+
+[Term]
+id: ABA:DGcr-po
+name: Dentate gyrus crest, polymorph layer (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:DGcr ! Dentate gyrus crest (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/DGcr-po.html xsd:string
+
+[Term]
+id: ABA:DGcr-sg
+name: Dentate gyrus crest, granule cell layer (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:DGcr ! Dentate gyrus crest (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/DGcr-sg.html xsd:string
+
+[Term]
+id: ABA:DGlb
+name: Dentate gyrus lateral blade (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of UBERON:0001885 ! dentate gyrus of hippocampal formation
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/DGlb.html xsd:string
+
+[Term]
+id: ABA:DGlb-mo
+name: Dentate gyrus lateral blade, molecular layer (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:DGlb ! Dentate gyrus lateral blade (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/DGlb-mo.html xsd:string
+
+[Term]
+id: ABA:DGlb-po
+name: Dentate gyrus lateral blade, polymorph layer (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:DGlb ! Dentate gyrus lateral blade (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/DGlb-po.html xsd:string
+
+[Term]
+id: ABA:DGlb-sg
+name: Dentate gyrus lateral blade, granule cell layer (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:DGlb ! Dentate gyrus lateral blade (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/DGlb-sg.html xsd:string
+
+[Term]
+id: ABA:DGmb
+name: Dentate gyrus medial blade (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of UBERON:0001885 ! dentate gyrus of hippocampal formation
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/DGmb.html xsd:string
+
+[Term]
+id: ABA:DGmb-mo
+name: Dentate gyrus medial blade, molecular layer (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:DGmb ! Dentate gyrus medial blade (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/DGmb-mo.html xsd:string
+
+[Term]
+id: ABA:DGmb-po
+name: Dentate gyrus medial blade, polymorph layer (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:DGmb ! Dentate gyrus medial blade (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/DGmb-po.html xsd:string
+
+[Term]
+id: ABA:DGmb-sg
+name: Dentate gyrus medial blade, granule cell layer (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of ABA:DGmb ! Dentate gyrus medial blade (mouse brain)
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/DGmb-sg.html xsd:string
+
+[Term]
+id: ABA:DMHa
+name: Dorsomedial nucleus of the hypothalamus, anterior part (mouse brain)
+namespace: aba
+is_a: UBERON:0002951 ! regional part of intermediate hypothalamic region
+relationship: part_of UBERON:0001934 ! dorsomedial nucleus of hypothalamus
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/DMHa.html xsd:string
+
+[Term]
+id: ABA:DMHp
+name: Dorsomedial nucleus of the hypothalamus, posterior part (mouse brain)
+namespace: aba
+is_a: UBERON:0002951 ! regional part of intermediate hypothalamic region
+relationship: part_of UBERON:0001934 ! dorsomedial nucleus of hypothalamus
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/DMHp.html xsd:string
+
+[Term]
+id: ABA:DMHv
+name: Dorsomedial nucleus of the hypothalamus, ventral part (mouse brain)
+namespace: aba
+is_a: UBERON:0002951 ! regional part of intermediate hypothalamic region
+relationship: part_of UBERON:0001934 ! dorsomedial nucleus of hypothalamus
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/DMHv.html xsd:string
+
+[Term]
+id: ABA:DORpm
+name: Thalamus, polymodal association cortex related (mouse brain)
+namespace: aba
+is_a: UBERON:0002784 ! regional part of diencephalon
+relationship: part_of UBERON:0001897 ! dorsal plus ventral thalamus
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/DORpm.html xsd:string
+
+[Term]
+id: ABA:DORsm
+name: Thalamus, sensory-motor cortex related (mouse brain)
+namespace: aba
+is_a: UBERON:0002784 ! regional part of diencephalon
+relationship: part_of UBERON:0001897 ! dorsal plus ventral thalamus
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/DORsm.html xsd:string
+
+[Term]
+id: ABA:DP
+name: Dorsal peduncular area (mouse brain)
+namespace: aba
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0002619 ! regional part of cerebral cortex
+relationship: part_of UBERON:0002264 ! olfactory bulb
+property_value: rdfs:isDefinedBy http://mouse.brain-map.org/atlas/coronal/DP.html xsd:string
+
+[Term]
+id: ABA:DP1
+na...
[truncated message content] |
|
From: <cmu...@us...> - 2014-10-27 14:53:55
|
Revision: 5218
http://sourceforge.net/p/obo/svn/5218
Author: cmungall
Date: 2014-10-27 14:53:47 +0000 (Mon, 27 Oct 2014)
Log Message:
-----------
new-release
Added Paths:
-----------
uberon/releases/2014-10-26/
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <koe...@us...> - 2014-10-17 13:40:21
|
Revision: 5216
http://sourceforge.net/p/obo/svn/5216
Author: koehlers
Date: 2014-10-17 13:40:08 +0000 (Fri, 17 Oct 2014)
Log Message:
-----------
annotation updates
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610532.tab
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609256.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609257.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609258.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609259.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615780.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615837.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615860.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615922.tab
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609256.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609256.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609256.tab 2014-10-17 13:40:08 UTC (rev 5216)
@@ -0,0 +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:609256 %609256 MYOPIA 7; MYP7 HP:0000545 Myopia IEA IEA OMIM-CS:HEAD AND NECK_EYES > MYOPIA, LOW TO MODERATE (-12.12 D TO +7.25 D) OMIM:609256 HPO:skoehler 17.10.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609256.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609257.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609257.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609257.tab 2014-10-17 13:40:08 UTC (rev 5216)
@@ -0,0 +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:609257 %609257 MYOPIA 8; MYP8 HP:0000545 Myopia IEA IEA OMIM-CS:HEAD AND NECK_EYES > MYOPIA, LOW TO MODERATE (-12.12 D TO +7.25 D) OMIM:609257 HPO:skoehler 17.10.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609257.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609258.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609258.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609258.tab 2014-10-17 13:40:08 UTC (rev 5216)
@@ -0,0 +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:609258 %609258 MYOPIA 9; MYP9 HP:0000545 Myopia IEA IEA OMIM-CS:HEAD AND NECK_EYES > MYOPIA, LOW TO MODERATE (-12.12 D TO +7.25 D) OMIM:609258 HPO:skoehler 17.10.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609258.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609259.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609259.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609259.tab 2014-10-17 13:40:08 UTC (rev 5216)
@@ -0,0 +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:609259 %609259 MYOPIA 10; MYP10 HP:0000545 Myopia IEA IEA OMIM-CS:HEAD AND NECK_EYES > MYOPIA, LOW TO MODERATE (-12.12 D TO +7.25 D) OMIM:609259 HPO:skoehler 17.10.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609259.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610532.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610532.tab 2014-10-17 11:27:41 UTC (rev 5215)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610532.tab 2014-10-17 13:40:08 UTC (rev 5216)
@@ -21,3 +21,4 @@
OMIM:610532 HYPOMYELINATION AND CONGENITAL CATARACT HP:0007340 Lower limb muscle weakness TAS TAS OMIM:610532 HPO:probinson 16.07.2012
OMIM:610532 #610532 LEUKODYSTROPHY, HYPOMYELINATING, 5; HLD5;;HYPOMYELINATION AND CONGENITAL CATARACT: HCC HP:0003828 Variable expressivity IEA IEA OMIM-CS:MISCELLANEOUS > VARIABLE SEVERITY OMIM:610532 HPO:skoehler 21.01.2013
OMIM:610532 #610532 LEUKODYSTROPHY, HYPOMYELINATING, 5; HLD5;;HYPOMYELINATION AND CONGENITAL CATARACT: HCC HP:0012762 Cerebral white matter atrophy IEA IEA MODIFIER:PROGRESSIVE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBRAL WHITE MATTER ATROPHY, PROGRESSIVE OMIM:610532 HPO:skoehler 13.04.2014
+OMIM:610532 #610532 LEUKODYSTROPHY, HYPOMYELINATING, 5; HLD5;;HYPOMYELINATION AND CONGENITAL CATARACT: HCC HP:0030147 Truncal titubation IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > TRUNCAL TITUBATION OMIM:610532 HPO:skoehler 17.10.2014
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615780.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615780.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615780.tab 2014-10-17 13:40:08 UTC (rev 5216)
@@ -0,0 +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:615780 #615780 RETINITIS PIGMENTOSA 69; RP69 HP:0200099 Peripheral retinal pigmentation abnormalities TAS TAS OMIM-CS:HEAD AND NECK_EYES > PIGMENTARY CHANGES IN THE PERIPHERAL RETINA OMIM:615780 HPO:skoehler 17.10.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615780.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615837.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615837.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615837.tab 2014-10-17 13:40:08 UTC (rev 5216)
@@ -0,0 +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:615837 #615837 DEAFNESS, AUTOSOMAL RECESSIVE 101; DFNB101 HP:0008619 Bilateral sensorineural hearing impairment IEA IEA OMIM-CS:HEAD AND NECK_EARS > HEARING LOSS, SENSORINEURAL, BILATERAL, MODERATE-TO-SEVERE OMIM:615837 HPO:skoehler 17.10.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615837.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615860.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615860.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615860.tab 2014-10-17 13:40:08 UTC (rev 5216)
@@ -0,0 +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:615860 #615860 CONE-ROD DYSTROPHY 19; CORD19 HP:0000556 Retinal dystrophy IEA IEA OMIM-CS:HEAD AND NECK_EYES > CONE-FIRST RETINAL DYSTROPHY OMIM:615860 HPO:skoehler 17.10.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615860.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615922.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615922.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615922.tab 2014-10-17 13:40:08 UTC (rev 5216)
@@ -0,0 +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:615922 #615922 RETINITIS PIGMENTOSA 70; RP70 HP:0000546 Retinal degeneration IEA IEA OMIM-CS:HEAD AND NECK_EYES > RETINAL DEGENERATION WITH MACULAR INVOLVEMENT OMIM:615922 HPO:skoehler 17.10.2014
+OMIM:615922 #615922 RETINITIS PIGMENTOSA 70; RP70 HP:0000543 Optic disc pallor TAS TAS OMIM-CS:HEAD AND NECK_EYES > WAXY PALLOR OF OPTIC DISK OMIM:615922 HPO:skoehler 17.10.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615922.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <koe...@us...> - 2014-10-17 11:27:54
|
Revision: 5215
http://sourceforge.net/p/obo/svn/5215
Author: koehlers
Date: 2014-10-17 11:27:41 +0000 (Fri, 17 Oct 2014)
Log Message:
-----------
remove unintended whitespaces
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-112500.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-118100.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-123450.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-135290.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137600.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137920.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-169400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-175100.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-175700.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-180849.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-183600.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184460.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-185800.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-186570.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-194050.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-194190.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-200990.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-201000.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-215140.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-222448.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-225300.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-261550.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-270400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-274000.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-312080.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602398.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604229.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604348.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606574.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607330.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607872.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607932.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610543.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610829.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611377.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612229.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613406.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-112500.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-112500.tab 2014-10-17 11:25:06 UTC (rev 5214)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-112500.tab 2014-10-17 11:27:41 UTC (rev 5215)
@@ -2,18 +2,18 @@
MIM:112500 BRACHYDACTYLY, TYPE A1 MIM:600726 (N-terminal active fragment of the IHH) / wt; 5p13.3-p13.2 / wt IHH; 5p13.3-p13.2 HP:0000006 Autosomal dominant inheritance PCS PCS MIM:112500 HPO Apr 24, 2012
MIM:112500 BRACHYDACTYLY, TYPE A1 MIM:600726 (N-terminal active fragment of the IHH) / wt; 5p13.3-p13.2 / wt IHH; 5p13.3-p13.2 HP:0001032 Absent distal interphalangeal creases PCS PCS MIM:112500 HPO Apr 24, 2012
MIM:112500 BRACHYDACTYLY, TYPE A1 MIM:600726 (N-terminal active fragment of the IHH) / wt; 5p13.3-p13.2 / wt IHH; 5p13.3-p13.2 HP:0001204 Distal symphalangism (hands) PCS PCS MIM:112500 HPO Apr 24, 2012
-MIM:112500 BRACHYDACTYLY, TYPE A1 MIM:600726 (N-terminal active fragment of the IHH) / wt; 5p13.3-p13.2 / wt IHH; 5p13.3-p13.2 HP:0001509 Short stature PCS PCS ISBN-13: 978-3437214301 HPO Apr 24, 2012
-MIM:112500 BRACHYDACTYLY, TYPE A1 MIM:600726 (N-terminal active fragment of the IHH) / wt; 5p13.3-p13.2 / wt IHH; 5p13.3-p13.2 HP:0010049 Short metacarpal PCS PCS ISBN-13: 978-3437214301 HPO Apr 24, 2012
-MIM:112500 BRACHYDACTYLY, TYPE A1 MIM:600726 (N-terminal active fragment of the IHH) / wt; 5p13.3-p13.2 / wt IHH; 5p13.3-p13.2 HP:0005194 Flattened metatarsal heads PCS PCS ISBN-13: 978-3437214301 HPO:skoehler Apr 24, 2012
-MIM:112500 BRACHYDACTYLY, TYPE A1 MIM:600726 (N-terminal active fragment of the IHH) / wt; 5p13.3-p13.2 / wt IHH; 5p13.3-p13.2 HP:0009638 Short proximal phalanx of thumb PCS PCS ISBN-13: 978-3437214301 HPO Apr 24, 2012
-MIM:112500 BRACHYDACTYLY, TYPE A1 MIM:600726 (N-terminal active fragment of the IHH) / wt; 5p13.3-p13.2 / wt IHH; 5p13.3-p13.2 HP:0010107 Small proximal phalanx of hallux PCS PCS ISBN-13: 978-3437214301 HPO Apr 24, 2012
-MIM:112500 BRACHYDACTYLY, TYPE A1 MIM:600726 (N-terminal active fragment of the IHH) / wt; 5p13.3-p13.2 / wt IHH; 5p13.3-p13.2 HP:0009843 Aplasia/Hypoplasia of the middle phalanges of the hand PCS PCS ISBN-13: 978-3437214301 HPO Apr 24, 2012
+MIM:112500 BRACHYDACTYLY, TYPE A1 MIM:600726 (N-terminal active fragment of the IHH) / wt; 5p13.3-p13.2 / wt IHH; 5p13.3-p13.2 HP:0001509 Short stature PCS PCS ISBN-13:978-3437214301 HPO Apr 24, 2012
+MIM:112500 BRACHYDACTYLY, TYPE A1 MIM:600726 (N-terminal active fragment of the IHH) / wt; 5p13.3-p13.2 / wt IHH; 5p13.3-p13.2 HP:0010049 Short metacarpal PCS PCS ISBN-13:978-3437214301 HPO Apr 24, 2012
+MIM:112500 BRACHYDACTYLY, TYPE A1 MIM:600726 (N-terminal active fragment of the IHH) / wt; 5p13.3-p13.2 / wt IHH; 5p13.3-p13.2 HP:0005194 Flattened metatarsal heads PCS PCS ISBN-13:978-3437214301 HPO:skoehler Apr 24, 2012
+MIM:112500 BRACHYDACTYLY, TYPE A1 MIM:600726 (N-terminal active fragment of the IHH) / wt; 5p13.3-p13.2 / wt IHH; 5p13.3-p13.2 HP:0009638 Short proximal phalanx of thumb PCS PCS ISBN-13:978-3437214301 HPO Apr 24, 2012
+MIM:112500 BRACHYDACTYLY, TYPE A1 MIM:600726 (N-terminal active fragment of the IHH) / wt; 5p13.3-p13.2 / wt IHH; 5p13.3-p13.2 HP:0010107 Small proximal phalanx of hallux PCS PCS ISBN-13:978-3437214301 HPO Apr 24, 2012
+MIM:112500 BRACHYDACTYLY, TYPE A1 MIM:600726 (N-terminal active fragment of the IHH) / wt; 5p13.3-p13.2 / wt IHH; 5p13.3-p13.2 HP:0009843 Aplasia/Hypoplasia of the middle phalanges of the hand PCS PCS ISBN-13:978-3437214301 HPO Apr 24, 2012
MIM:112500 BRACHYDACTYLY, TYPE A1 MIM:600726 (N-terminal active fragment of the IHH) / wt; 5p13.3-p13.2 / wt IHH; 5p13.3-p13.2 HP:0004209 Clinodactyly of the 5th finger PCS PCS MIM:112500 HPO Oct 20, 2009
MIM:112500 BRACHYDACTYLY, TYPE A1 MIM:600726 (N-terminal active fragment of the IHH) / wt; 5p13.3-p13.2 / wt IHH; 5p13.3-p13.2 HP:0009467 Radial deviation of the 2nd finger TAS TAS MIM:112500 HPO Oct 20, 2009
MIM:112500 BRACHYDACTYLY, TYPE A1 MIM:600726 (N-terminal active fragment of the IHH) / wt; 5p13.3-p13.2 / wt IHH; 5p13.3-p13.2 HP:0009279 Radial deviation of the 4th finger TAS TAS MIM:112500 HPO Oct 20, 2009
MIM:112500 BRACHYDACTYLY, TYPE A1 MIM:600726 (N-terminal active fragment of the IHH) / wt; 5p13.3-p13.2 / wt IHH; 5p13.3-p13.2 HP:0009462 Radial deviation of the 3rd finger TAS TAS MIM:112500 HPO Oct 20, 2009
-MIM:112500 BRACHYDACTYLY, TYPE A1 MIM:600726 (N-terminal active fragment of the IHH) / wt; 5p13.3-p13.2 / wt IHH; 5p13.3-p13.2 HP:0010049 Short metacarpal PCS PCS ISBN-13: 978-3437214301 HPO Oct 20, 2009
-MIM:112500 BRACHYDACTYLY, TYPE A1 MIM:600726 (N-terminal active fragment of the IHH) / wt; 5p13.3-p13.2 / wt IHH; 5p13.3-p13.2 HP:0010194 Aplasia/Hypoplasia of the middle phalanges of the toes PCS PCS ISBN-13: 978-3437214301 HPO Oct 20, 2009
+MIM:112500 BRACHYDACTYLY, TYPE A1 MIM:600726 (N-terminal active fragment of the IHH) / wt; 5p13.3-p13.2 / wt IHH; 5p13.3-p13.2 HP:0010049 Short metacarpal PCS PCS ISBN-13:978-3437214301 HPO Oct 20, 2009
+MIM:112500 BRACHYDACTYLY, TYPE A1 MIM:600726 (N-terminal active fragment of the IHH) / wt; 5p13.3-p13.2 / wt IHH; 5p13.3-p13.2 HP:0010194 Aplasia/Hypoplasia of the middle phalanges of the toes PCS PCS ISBN-13:978-3437214301 HPO Oct 20, 2009
OMIM:112500 #112500 BRACHYDACTYLY, TYPE A1; BDA1;;FARABEE-TYPE BRACHYDACTYLY HP:0006165 Proportionate shortening of all digits TAS TAS OMIM:112500 HPO:skoehler Oct 17, 2012
OMIM:112500 #112500 BRACHYDACTYLY, TYPE A1; BDA1;;FARABEE-TYPE BRACHYDACTYLY HP:0004279 Short palm TAS TAS OMIM:112500 HPO:skoehler Oct 17, 2012
OMIM:112500 #112500 BRACHYDACTYLY, TYPE A1; BDA1;;FARABEE-TYPE BRACHYDACTYLY HP:0009882 Short distal phalanx of finger TAS TAS OMIM:112500 HPO:skoehler Oct 17, 2012
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-118100.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-118100.tab 2014-10-17 11:25:06 UTC (rev 5214)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-118100.tab 2014-10-17 11:27:41 UTC (rev 5215)
@@ -14,15 +14,15 @@
MIM:118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT MIM:601147 GROWTH/DIFFERENTIATION FACTOR 6 MIM:601147 / wt (alleles .0001, 0002, 0003, 0004) GDF6 HP:0000410 Mixed hearing impairment PCS PCS 5/24 PMID:9875048 HPO 24.04.2012
MIM:118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT MIM:601147 GROWTH/DIFFERENTIATION FACTOR 6 MIM:601147 / wt (alleles .0001, 0002, 0003, 0004) GDF6 HP:0000077 Abnormality of the kidney PCS PCS 16/45 PMID:4436358 HPO 24.04.2012
MIM:118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT MIM:601147 GROWTH/DIFFERENTIATION FACTOR 6 MIM:601147 / wt (alleles .0001, 0002, 0003, 0004) GDF6 HP:0000122 Unilateral renal agenesis PCS PCS 7/45 PMID:4436358 HPO 24.04.2012
-MIM:118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT MIM:601147 GROWTH/DIFFERENTIATION FACTOR 6 MIM:601147 / wt (alleles .0001, 0002, 0003, 0004) GDF6 HP:0002564 Malformation of the heart and great vessels PCS PCS 21/505 PMID:4436358; PMID:5645110 HPO 24.04.2012
+MIM:118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT MIM:601147 GROWTH/DIFFERENTIATION FACTOR 6 MIM:601147 / wt (alleles .0001, 0002, 0003, 0004) GDF6 HP:0002564 Malformation of the heart and great vessels PCS PCS 21/505 PMID:4436358;PMID:5645110 HPO 24.04.2012
MIM:118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT MIM:601147 GROWTH/DIFFERENTIATION FACTOR 6 MIM:601147 / wt (alleles .0001, 0002, 0003, 0004) GDF6 HP:0001335 Bimanual synkinesia PCS PCS 9/50 PMID:4436358 HPO 24.04.2012
MIM:118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT MIM:601147 GROWTH/DIFFERENTIATION FACTOR 6 MIM:601147 / wt (alleles .0001, 0002, 0003, 0004) GDF6 HP:0005988 Congenital muscular torticollis PCS PCS 20% PMID:4436358 HPO 24.04.2012
MIM:118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT MIM:601147 GROWTH/DIFFERENTIATION FACTOR 6 MIM:601147 / wt (alleles .0001, 0002, 0003, 0004) GDF6 HP:0000465 Webbed neck PCS PCS 20% PMID:4436358 HPO 24.04.2012
MIM:118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT MIM:601147 GROWTH/DIFFERENTIATION FACTOR 6 MIM:601147 / wt (alleles .0001, 0002, 0003, 0004) GDF6 HP:0000707 Abnormality of the nervous system PCS PCS 5/19 PMID:9702666 HPO 24.04.2012
MIM:118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT MIM:601147 GROWTH/DIFFERENTIATION FACTOR 6 MIM:601147 / wt (alleles .0001, 0002, 0003, 0004) GDF6 HP:0000772 Abnormality of the ribs PCS PCS occasional ISBN-13:978-0721606156 HPO 24.04.2012
MIM:118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT MIM:601147 GROWTH/DIFFERENTIATION FACTOR 6 MIM:601147 / wt (alleles .0001, 0002, 0003, 0004) GDF6 HP:0007291 Posterior fossa cyst PCS PCS occasional ISBN-13:978-0721606156 HPO 24.04.2012
-MIM:118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT MIM:601147 GROWTH/DIFFERENTIATION FACTOR 6 MIM:601147 / wt (alleles .0001, 0002, 0003, 0004) GDF6 HP:0002813 Abnormality of limb bone morphology HP:0003577 Congenital onset PCS PCS occasional PMID:16585825; PMID:18425797 HPO 24.04.2012
-MIM:118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT MIM:601147 GROWTH/DIFFERENTIATION FACTOR 6 MIM:601147 / wt (alleles .0001, 0002, 0003, 0004) GDF6 PCS PCS occasional Term used was cervicomedullary neuroschisis ISBN-13:978-0721606156; PMID:11950676 HPO 24.04.2012
+MIM:118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT MIM:601147 GROWTH/DIFFERENTIATION FACTOR 6 MIM:601147 / wt (alleles .0001, 0002, 0003, 0004) GDF6 HP:0002813 Abnormality of limb bone morphology HP:0003577 Congenital onset PCS PCS occasional PMID:16585825;PMID:18425797 HPO 24.04.2012
+MIM:118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT MIM:601147 GROWTH/DIFFERENTIATION FACTOR 6 MIM:601147 / wt (alleles .0001, 0002, 0003, 0004) GDF6 PCS PCS occasional Term used was cervicomedullary neuroschisis ISBN-13:978-0721606156;PMID:11950676 HPO 24.04.2012
MIM:118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT MIM:601147 GROWTH/DIFFERENTIATION FACTOR 6 MIM:601147 / wt (alleles .0001, 0002, 0003, 0004) GDF6 HP:0005640 Abnormal vertebral segmentation and fusion HP:0003577 Congenital onset PCS PCS hallmark PMID:18425797 HPO 24.04.2012
OMIM:118100 #118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1;;KFS;;CERVICAL VERTEBRAL FUSION, AUTOSOMAL DOMINANT HP:0003828 Variable expressivity IEA IEA OMIM-CS:MISCELLANEOUS > VARIABLE SEVERITY OMIM:118100 HPO:skoehler 17.10.2012
OMIM:118100 #118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1;;KFS;;CERVICAL VERTEBRAL FUSION, AUTOSOMAL DOMINANT HP:0001425 Heterogeneous IEA IEA OMIM-CS:MISCELLANEOUS > GENETIC HETEROGENEITY (SEE 214300) OMIM:118100 HPO:skoehler 16.11.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-123450.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-123450.tab 2014-10-17 11:25:06 UTC (rev 5214)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-123450.tab 2014-10-17 11:27:41 UTC (rev 5215)
@@ -3,7 +3,7 @@
MIM:123450 CRI-DU-CHAT SYNDROME del5p HP:0200046 Cat cry PCS PCS PMID:1695388 24.04.2012
MIM:123450 CRI-DU-CHAT SYNDROME del5p HP:0001518 Small for gestational age PCS PCS ISBN-13:978-0721606156 24.04.2012
MIM:123450 CRI-DU-CHAT SYNDROME del5p HP:0000252 Microcephaly PCS PCS ISBN-13:978-0721606156 24.04.2012
-MIM:123450 CRI-DU-CHAT SYNDROME del5p HP:0000311 Round face PCS PCS ISBN-13:978-0721606156; PMID:16953888 24.04.2012
+MIM:123450 CRI-DU-CHAT SYNDROME del5p HP:0000311 Round face PCS PCS ISBN-13:978-0721606156;PMID:16953888 24.04.2012
MIM:123450 CRI-DU-CHAT SYNDROME del5p HP:0000431 Broad nasal bridge PCS PCS PMID:1695388 24.04.2012
MIM:123450 CRI-DU-CHAT SYNDROME del5p HP:0001510 Growth delay PCS PCS ISBN-13:978-0721606156 24.04.2012
MIM:123450 CRI-DU-CHAT SYNDROME del5p HP:0001249 Intellectual disability PCS PCS ISBN-13:978-0721606156 24.04.2012
@@ -22,7 +22,7 @@
MIM:123450 CRI-DU-CHAT SYNDROME del5p HP:0002714 Downturned corners of mouth PCS PCS PMID:16953888 24.04.2012
MIM:123450 CRI-DU-CHAT SYNDROME del5p HP:0000308 Microretrognathia PCS PCS PMID:20038906 24.04.2012
MIM:123450 CRI-DU-CHAT SYNDROME del5p HP:0005437 Recurrent infections in infancy and early childhood PCS PCS PMID:16953888 24.04.2012
-MIM:123450 CRI-DU-CHAT SYNDROME del5p HP:0000077 Abnormality of the kidney PCS PCS PMID:16953888; PMID:20038906 24.04.2012
+MIM:123450 CRI-DU-CHAT SYNDROME del5p HP:0000077 Abnormality of the kidney PCS PCS PMID:16953888;PMID:20038906 24.04.2012
MIM:123450 CRI-DU-CHAT SYNDROME del5p HP:0000047 Hypospadias PCS PCS PMID:16953888 24.04.2012
MIM:123450 CRI-DU-CHAT SYNDROME del5p HP:0000028 Cryptorchidism PCS PCS PMID:16953888 24.04.2012
MIM:123450 CRI-DU-CHAT SYNDROME del5p HP:0000384 Preauricular skin tag PCS PCS PMID:16953888 24.04.2012
@@ -53,11 +53,11 @@
MIM:123450 CRI-DU-CHAT SYNDROME del5p HP:0000518 Cataract PCS PCS PMID:20038906 24.04.2012
MIM:123450 CRI-DU-CHAT SYNDROME del5p HP:0001276 Hypertonia HP:0003621 Juvenile onset PCS PCS PMID:20038906 24.04.2012
MIM:123450 CRI-DU-CHAT SYNDROME del5p HP:0000218 High palate PCS PCS PMID:20038906 24.04.2012
-MIM:123450 CRI-DU-CHAT SYNDROME del5p HP:0000752 Hyperactivity PCS PCS PMID:16953888; PMID:20038906 24.04.2012
+MIM:123450 CRI-DU-CHAT SYNDROME del5p HP:0000752 Hyperactivity PCS PCS PMID:16953888;PMID:20038906 24.04.2012
MIM:123450 CRI-DU-CHAT SYNDROME del5p HP:0000736 Short attention span PCS PCS PMID:20038906 24.04.2012
MIM:123450 CRI-DU-CHAT SYNDROME del5p HP:0000739 Anxiety PCS PCS PMID:20038906 24.04.2012
MIM:123450 CRI-DU-CHAT SYNDROME del5p HP:0000718 Aggressive behavior PCS PCS PMID:11869383 24.04.2012
-MIM:123450 CRI-DU-CHAT SYNDROME del5p HP:0000742 Self-mutilation PCS PCS PMID: 8957962 24.04.2012
+MIM:123450 CRI-DU-CHAT SYNDROME del5p HP:0000742 Self-mutilation PCS PCS PMID:8957962 24.04.2012
MIM:123450 CRI-DU-CHAT SYNDROME del5p HP:0002399 Speech and language difficulties PCS PCS PMID:10355811 24.04.2012
MIM:123450 CRI-DU-CHAT SYNDROME del5p HP:0000733 Stereotypic behavior PCS PCS PMID:11869383 24.04.2012
MIM:123450 CRI-DU-CHAT SYNDROME del5p HP:0000717 Autism PCS PCS PMID:18564888 24.04.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-135290.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-135290.tab 2014-10-17 11:25:06 UTC (rev 5214)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-135290.tab 2014-10-17 11:27:41 UTC (rev 5215)
@@ -1,5 +1,5 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
MIM:135290 DESMOID DISEASE, HEREDITARY MIM:611731 APC GENE MIM:611731 / wt APC HP:0000006 Autosomal dominant inheritance PCS PCS MIM:135290 HPO 17.02.2009
MIM:135290 DESMOID DISEASE, HEREDITARY MIM:611731 APC GENE MIM:611731 / wt APC HP:0100245 Desmoid tumors HP:0003593 Infantile onset PCS PCS hallmark MIM:135290 HPO 17.02.2009
-MIM:135290 DESMOID DISEASE, HEREDITARY MIM:611731 APC GENE MIM:611731 / wt APC HP:0200040 Skin cysts PCS PCS frequent PMID:1078292; PMID:8940264 HPO 08.07.2010
+MIM:135290 DESMOID DISEASE, HEREDITARY MIM:611731 APC GENE MIM:611731 / wt APC HP:0200040 Skin cysts PCS PCS frequent PMID:1078292;PMID:8940264 HPO 08.07.2010
MIM:135290 DESMOID DISEASE, HEREDITARY MIM:611731 APC GENE MIM:611731 / wt APC HP:0003003 Colon cancer PCS PCS rare PMID:1078292 HPO 08.07.2010
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137600.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137600.tab 2014-10-17 11:25:06 UTC (rev 5214)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137600.tab 2014-10-17 11:27:41 UTC (rev 5215)
@@ -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:137600 IRIDOGONIODYSGENESIS, TYPE 2 HP:0000006 Autosomal dominant inheritance PCS PCS PMID:5804028; PMID:9618168 HPO:curators 17.02.2009
+OMIM:137600 IRIDOGONIODYSGENESIS, TYPE 2 HP:0000006 Autosomal dominant inheritance PCS PCS PMID:5804028;PMID:9618168 HPO:curators 17.02.2009
OMIM:137600 IRIDOGONIODYSGENESIS, TYPE 2 HP:0000164 Abnormality of the teeth PCS PCS hallmark PMID:9618168 HPO:curators 19.04.2012
-OMIM:137600 IRIDOGONIODYSGENESIS, TYPE 2 HP:0000501 Glaucoma PCS PCS hallmark PMID:6881141; PMID:9618168 HPO:curators 17.02.2009
-OMIM:137600 IRIDOGONIODYSGENESIS, TYPE 2 HP:0002260 Craniofacial dysmorphism PCS PCS PMID: 8942889; PMID:9618168 HPO:curators 19.04.2012
-OMIM:137600 IRIDOGONIODYSGENESIS, TYPE 2 HP:0007730 Iris hypopigmentation PCS PCS hallmark PMID:5804028; PMID:9618168 HPO:curators 19.04.2012
-OMIM:137600 IRIDOGONIODYSGENESIS, TYPE 2 HP:0007990 Hypoplastic iris stroma PCS PCS hallmark PMID:5804028; PMID:9618168 HPO:curators 17.02.2009
+OMIM:137600 IRIDOGONIODYSGENESIS, TYPE 2 HP:0000501 Glaucoma PCS PCS hallmark PMID:6881141;PMID:9618168 HPO:curators 17.02.2009
+OMIM:137600 IRIDOGONIODYSGENESIS, TYPE 2 HP:0002260 Craniofacial dysmorphism PCS PCS PMID:8942889;PMID:9618168 HPO:curators 19.04.2012
+OMIM:137600 IRIDOGONIODYSGENESIS, TYPE 2 HP:0007730 Iris hypopigmentation PCS PCS hallmark PMID:5804028;PMID:9618168 HPO:curators 19.04.2012
+OMIM:137600 IRIDOGONIODYSGENESIS, TYPE 2 HP:0007990 Hypoplastic iris stroma PCS PCS hallmark PMID:5804028;PMID:9618168 HPO:curators 17.02.2009
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137920.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137920.tab 2014-10-17 11:25:06 UTC (rev 5214)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137920.tab 2014-10-17 11:27:41 UTC (rev 5215)
@@ -15,10 +15,10 @@
MIM:137920 RENAL CYSTS AND DIABETES SYNDROME MIM:189907 HNF1 HOMEOBOX B MIM:189907 / wt; del17q12 HNF1B HP:0003259 Increased creatinine PCS PCS frequent MIM:137920 HPO 17.02.2009
MIM:137920 RENAL CYSTS AND DIABETES SYNDROME MIM:189907 HNF1 HOMEOBOX B MIM:189907 / wt; del17q12 HNF1B HP:0003618 Variable age at onset PCS PCS MIM:137920 HPO 17.02.2009
MIM:137920 RENAL CYSTS AND DIABETES SYNDROME MIM:189907 HNF1 HOMEOBOX B MIM:189907 / wt; del17q12 HNF1B HP:0003815 Highly variable phenotype PCS PCS MIM:137920 HPO 17.02.2009
-MIM:137920 RENAL CYSTS AND DIABETES SYNDROME MIM:189907 HNF1 HOMEOBOX B MIM:189907 / wt; del17q12 HNF1B HP:0004904 Insulin-dependent maturity-onset diabetes of the young HP:0003627 Onset in early adulthood PCS PCS 10/13 PMID:15068978 HPO 17.02.2009
+MIM:137920 RENAL CYSTS AND DIABETES SYNDROME MIM:189907 HNF1 HOMEOBOX B MIM:189907 / wt; del17q12 HNF1B HP:0004904 Insulin-dependent maturity-onset diabetes of the young HP:0003627 Onset in early adulthood PCS PCS 10/13 PMID:15068978 HPO 17.02.2009
MIM:137920 RENAL CYSTS AND DIABETES SYNDROME MIM:189907 HNF1 HOMEOBOX B MIM:189907 / wt; del17q12 HNF1B HP:0001411 Abnormal liver function tests PCS PCS frequent PMID:15930087 HPO 17.02.2009
-MIM:137920 RENAL CYSTS AND DIABETES SYNDROME MIM:189907 HNF1 HOMEOBOX B MIM:189907 / wt; del17q12 HNF1B HP:0002594 Pancreatic hypoplasia PCS PCS 5/6 PMID:15068978 HPO 28.12.2010
-MIM:137920 RENAL CYSTS AND DIABETES SYNDROME MIM:189907 HNF1 HOMEOBOX B MIM:189907 / wt; del17q12 HNF1B HP:0001738 Exocrine pancreatic insufficiency PCS PCS 6/7 PMID:15068978 HPO 28.12.2010
+MIM:137920 RENAL CYSTS AND DIABETES SYNDROME MIM:189907 HNF1 HOMEOBOX B MIM:189907 / wt; del17q12 HNF1B HP:0002594 Pancreatic hypoplasia PCS PCS 5/6 PMID:15068978 HPO 28.12.2010
+MIM:137920 RENAL CYSTS AND DIABETES SYNDROME MIM:189907 HNF1 HOMEOBOX B MIM:189907 / wt; del17q12 HNF1B HP:0001738 Exocrine pancreatic insufficiency PCS PCS 6/7 PMID:15068978 HPO 28.12.2010
MIM:137920 RENAL CYSTS AND DIABETES SYNDROME MIM:189907 HNF1 HOMEOBOX B MIM:189907 / wt; del17q12 HNF1B HP:0000107 Renal cysts PCS PCS 19/23 PMID:15930087 HPO 28.12.2010
MIM:137920 RENAL CYSTS AND DIABETES SYNDROME MIM:189907 HNF1 HOMEOBOX B MIM:189907 / wt; del17q12 HNF1B HP:0000819 Diabetes mellitus HP:0003577 Congenital onset PCS PCS occasional PMID:15930087 HPO 28.12.2010
MIM:137920 RENAL CYSTS AND DIABETES SYNDROME MIM:189907 HNF1 HOMEOBOX B MIM:189907 / wt; del17q12 HNF1B HP:0100611 Hypoplastic glomerulocystic kidney disease PCS PCS 4/23 PMID:15930087 HPO 28.12.2010
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-169400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-169400.tab 2014-10-17 11:25:06 UTC (rev 5214)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-169400.tab 2014-10-17 11:27:41 UTC (rev 5215)
@@ -1,16 +1,16 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-MIM:169400 PELGER-HUET ANOMALY MIM:600024 LAMIN B RECEPTOR MIM:600024 / wt; del1q42.3-44; MIM:600024 / MIM:600024 LBR HP:0000006 Autosomal dominant inheritance PCS PCS PMID:19468205; PMID:16007606 ZFIN:bruef; HPO:sdoelken 24.04.2012
-MIM:169400 PELGER-HUET ANOMALY MIM:600024 LAMIN B RECEPTOR del1q42.3-44; MIM:600024.0001 / MIM:600024.0001 LBR HP:0002007 Frontal bossing PCS PCS 2/2 PMID:12118250; PMID:16007606 ZFIN:bruef; HPO:sdoelken 24.04.2012
+MIM:169400 PELGER-HUET ANOMALY MIM:600024 LAMIN B RECEPTOR MIM:600024 / wt; del1q42.3-44; MIM:600024 / MIM:600024 LBR HP:0000006 Autosomal dominant inheritance PCS PCS PMID:19468205;PMID:16007606 ZFIN:bruef; HPO:sdoelken 24.04.2012
+MIM:169400 PELGER-HUET ANOMALY MIM:600024 LAMIN B RECEPTOR del1q42.3-44; MIM:600024.0001 / MIM:600024.0001 LBR HP:0002007 Frontal bossing PCS PCS 2/2 PMID:12118250;PMID:16007606 ZFIN:bruef; HPO:sdoelken 24.04.2012
MIM:169400 PELGER-HUET ANOMALY MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000256 Macrocephaly PCS PCS 2/11 PMID:14684694 ZFIN:bruef; HPO:sdoelken 24.04.2012
MIM:169400 PELGER-HUET ANOMALY MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001249 Intellectual disability PCS PCS 3/11 PMID:14684694 ZFIN:bruef; HPO:sdoelken 24.04.2012
MIM:169400 PELGER-HUET ANOMALY MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001250 Seizures PCS PCS 2/11 PMID:14684694 ZFIN:bruef; HPO:sdoelken 24.04.2012
MIM:169400 PELGER-HUET ANOMALY MIM:600024 LAMIN B RECEPTOR MIM:600024.0001 / MIM:600024.0001 LBR HP:0001629 Ventricular septal defect PCS PCS 1/11 PMID:12118250 ZFIN:bruef; HPO:sdoelken 24.04.2012
-MIM:169400 PELGER-HUET ANOMALY MIM:600024 LAMIN B RECEPTOR MIM:600024 / wt; del1q42.3-44; MIM:600024 / MIM:600024 LBR HP:0002916 Abnormality of chromosome segregation PCS PCS hallmark Need term for increased chromatin condensation (coarse or densely clumped); this is in granulocytes but could be general term (HPO:sdoelken: should be neutrophil specific term as this probably not applies for the chromosomes in general) PMID:19468205; PMID:16007606 ZFIN:bruef; HPO:sdoelken 24.04.2012
+MIM:169400 PELGER-HUET ANOMALY MIM:600024 LAMIN B RECEPTOR MIM:600024 / wt; del1q42.3-44; MIM:600024 / MIM:600024 LBR HP:0002916 Abnormality of chromosome segregation PCS PCS hallmark Need term for increased chromatin condensation (coarse or densely clumped); this is in granulocytes but could be general term (HPO:sdoelken: should be neutrophil specific term as this probably not applies for the chromosomes in general) PMID:19468205;PMID:16007606 ZFIN:bruef; HPO:sdoelken 24.04.2012
MIM:169400 PELGER-HUET ANOMALY MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0003502 Mild short stature PCS PCS 2/11 PMID:14684694 ZFIN:bruef; HPO:sdoelken 24.04.2012
-MIM:169400 PELGER-HUET ANOMALY MIM:600024 LAMIN B RECEPTOR MIM:600024 / wt; del1q42.3; MIM:600024 / MIM:600024 LBR HP:0001874 Abnormality of neutrophils PCS PCS obligate Need better terms for different forms of granulocytes and special term for undersegemnted nuclei of the neutrophil granulocytes PMID:19468205; PMID:16007606 ZFIN:bruef; HPO:sdoelken 24.04.2012
-MIM:169400 PELGER-HUET ANOMALY MIM:600024 LAMIN B RECEPTOR MIM:600024.0001 / MIM:600024.0001 LBR HP:0010044 Short 4th metacarpal PCS PCS 1/11 PMID:12118250; PMID:14684694 ZFIN:bruef; HPO:sdoelken 24.04.2012
-MIM:169400 PELGER-HUET ANOMALY MIM:600024 LAMIN B RECEPTOR MIM:600024.0001 / MIM:600024.0001 LBR HP:0010041 Short 3rd metacarpal PCS PCS 1/11 PMID:12118250; PMID:14684694 ZFIN:bruef; HPO:sdoelken 24.04.2012
-MIM:169400 PELGER-HUET ANOMALY MIM:600024 LAMIN B RECEPTOR MIM:600024.0001 / MIM:600024.0001 LBR HP:0010047 Short 5th metacarpal PCS PCS 1/11 PMID:12118250; PMID:14684694 ZFIN:bruef; HPO:sdoelken 24.04.2012
+MIM:169400 PELGER-HUET ANOMALY MIM:600024 LAMIN B RECEPTOR MIM:600024 / wt; del1q42.3; MIM:600024 / MIM:600024 LBR HP:0001874 Abnormality of neutrophils PCS PCS obligate Need better terms for different forms of granulocytes and special term for undersegemnted nuclei of the neutrophil granulocytes PMID:19468205;PMID:16007606 ZFIN:bruef; HPO:sdoelken 24.04.2012
+MIM:169400 PELGER-HUET ANOMALY MIM:600024 LAMIN B RECEPTOR MIM:600024.0001 / MIM:600024.0001 LBR HP:0010044 Short 4th metacarpal PCS PCS 1/11 PMID:12118250;PMID:14684694 ZFIN:bruef; HPO:sdoelken 24.04.2012
+MIM:169400 PELGER-HUET ANOMALY MIM:600024 LAMIN B RECEPTOR MIM:600024.0001 / MIM:600024.0001 LBR HP:0010041 Short 3rd metacarpal PCS PCS 1/11 PMID:12118250;PMID:14684694 ZFIN:bruef; HPO:sdoelken 24.04.2012
+MIM:169400 PELGER-HUET ANOMALY MIM:600024 LAMIN B RECEPTOR MIM:600024.0001 / MIM:600024.0001 LBR HP:0010047 Short 5th metacarpal PCS PCS 1/11 PMID:12118250;PMID:14684694 ZFIN:bruef; HPO:sdoelken 24.04.2012
MIM:169400 PELGER-HUET ANOMALY MIM:600024 LAMIN B RECEPTOR del1q42.3-44 LBR HP:0001249 Intellectual disability PCS PCS 1/1 PMID:16007606 ZFIN:bruef; HPO:sdoelken 24.04.2012
MIM:169400 PELGER-HUET ANOMALY MIM:600024 LAMIN B RECEPTOR del1q42.3-44 LBR HP:0009099 Median cleft palate PCS PCS 1/1 PMID:16007606 ZFIN:bruef; HPO:sdoelken 24.04.2012
MIM:169400 PELGER-HUET ANOMALY MIM:600024 LAMIN B RECEPTOR del1q42.3-44 LBR HP:0002069 Generalized tonic-clonic seizures PCS PCS 1/1 PMID:16007606 ZFIN:bruef; HPO:sdoelken 24.04.2012
@@ -26,10 +26,10 @@
MIM:169400 PELGER-HUET ANOMALY MIM:600024 LAMIN B RECEPTOR del1q42.3-44 LBR HP:0001761 Pes cavus PCS PCS 1/1 PMID:16007606 ZFIN:bruef; HPO:sdoelken 24.04.2012
MIM:169400 PELGER-HUET ANOMALY MIM:600024 LAMIN B RECEPTOR del1q42.3-44 LBR HP:0006895 Lower limb hypertonia PCS PCS 1/1 PMID:16007606 ZFIN:bruef; HPO:sdoelken 24.04.2012
MIM:169400 PELGER-HUET ANOMALY MIM:600024 LAMIN B RECEPTOR del1q42.3-44 LBR HP:0002395 Lower limb hyperreflexia PCS PCS 1/1 PMID:16007606 ZFIN:bruef; HPO:sdoelken 24.04.2012
-MIM:169400 PELGER-HUET ANOMALY MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001875 Neutropenia PCS PCS 1/11 PMID:10457411; PMID:14684694 ZFIN:bruef; HPO:sdoelken 24.04.2012
-MIM:169400 PELGER-HUET ANOMALY MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001906 Mild thrombocytopenia PCS PCS 1/11 PMID:10457411; PMID:14684694 ZFIN:bruef; HPO:sdoelken 24.04.2012
-MIM:169400 PELGER-HUET ANOMALY MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0003314 Hyperkyphosis PCS PCS 1/11 PMID:10457411; PMID:14684694 ZFIN:bruef; HPO:sdoelken 24.04.2012
-MIM:169400 PELGER-HUET ANOMALY MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0009824 Hypoplasia involving bones of the upper limbs PCS PCS 1/11 PMID:10457411; PMID:14684694 ZFIN:bruef; HPO:sdoelken 24.04.2012
-MIM:169400 PELGER-HUET ANOMALY MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000964 Eczema PCS PCS 1/11 PMID:10457411; PMID:14684694 ZFIN:bruef; HPO:sdoelken 24.04.2012
+MIM:169400 PELGER-HUET ANOMALY MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001875 Neutropenia PCS PCS 1/11 PMID:10457411;PMID:14684694 ZFIN:bruef; HPO:sdoelken 24.04.2012
+MIM:169400 PELGER-HUET ANOMALY MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001906 Mild thrombocytopenia PCS PCS 1/11 PMID:10457411;PMID:14684694 ZFIN:bruef; HPO:sdoelken 24.04.2012
+MIM:169400 PELGER-HUET ANOMALY MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0003314 Hyperkyphosis PCS PCS 1/11 PMID:10457411;PMID:14684694 ZFIN:bruef; HPO:sdoelken 24.04.2012
+MIM:169400 PELGER-HUET ANOMALY MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0009824 Hypoplasia involving bones of the upper limbs PCS PCS 1/11 PMID:10457411;PMID:14684694 ZFIN:bruef; HPO:sdoelken 24.04.2012
+MIM:169400 PELGER-HUET ANOMALY MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000964 Eczema PCS PCS 1/11 PMID:10457411;PMID:14684694 ZFIN:bruef; HPO:sdoelken 24.04.2012
MIM:169400 PELGER-HUET ANOMALY MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001902 Giant platelets PCS PCS 1/11 PMID:10457411 ZFIN:bruef; HPO:sdoelken 24.04.2012
MIM:169400 PELGER-HUET ANOMALY MIM:600024 LAMIN B RECEPTOR del1q42.3-44 LBR HP:0009027 Foot dorsiflexor weakness PCS PCS 1/1 PMID:16007606 ZFIN:bruef; HPO:sdoelken 22.07.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-175100.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-175100.tab 2014-10-17 11:25:06 UTC (rev 5214)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-175100.tab 2014-10-17 11:27:41 UTC (rev 5215)
@@ -17,8 +17,8 @@
MIM:175100 ADENOMATOUS POLYPOSIS OF THE COLON MIM:611731 APC GENE MIM:611731 / wt APC HP:0100245 Desmoid tumors PCS PCS 10% http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=fap HPO 08.07.2010
MIM:175100 ADENOMATOUS POLYPOSIS OF THE COLON MIM:611731 APC GENE MIM:611731 / wt APC HP:0003828 Variable expressivity PCS PCS MIM:175100 HPO 08.07.2010
MIM:175100 ADENOMATOUS POLYPOSIS OF THE COLON MIM:611731 APC GENE MIM:611731 / wt APC HP:0010614 Fibroma PCS PCS occasional MIM:175100 HPO 08.07.2010
-MIM:175100 ADENOMATOUS POLYPOSIS OF THE COLON MIM:611731 APC GENE MIM:611731 / wt APC HP:0200040 Skin cysts PCS PCS occasional PMID:14933371; PMID:13946545 HPO 08.07.2010
-MIM:175100 ADENOMATOUS POLYPOSIS OF THE COLON MIM:611731 APC GENE MIM:611731 / wt APC HP:0100246 Osteoma PCS PCS occasional PMID:14933371; PMID:13946545 HPO 08.07.2010
+MIM:175100 ADENOMATOUS POLYPOSIS OF THE COLON MIM:611731 APC GENE MIM:611731 / wt APC HP:0200040 Skin cysts PCS PCS occasional PMID:14933371;PMID:13946545 HPO 08.07.2010
+MIM:175100 ADENOMATOUS POLYPOSIS OF THE COLON MIM:611731 APC GENE MIM:611731 / wt APC HP:0100246 Osteoma PCS PCS occasional PMID:14933371;PMID:13946545 HPO 08.07.2010
MIM:175100 ADENOMATOUS POLYPOSIS OF THE COLON MIM:611731 APC GENE MIM:611731 / wt APC HP:0000164 Abnormality of the teeth PCS PCS 17% http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=fap HPO 08.07.2010
OMIM:175100 #175100 FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1;;ADENOMATOUS POLYPOSIS OF THE COLON; APC;;FAMILIAL POLYPOSIS OF THE COLON; FPC;;POLYPOSIS, ADENOMATOUS INTESTINALGARDNER SYNDROME, INCLUDED; GS, INCLUDED;;BRAIN TUMOR-POLYPOSIS SYNDROME 2, INCLUDED; BTPS2, INCLUDED;;FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED, INCLUDED; AFAP, INCLUDED;;ADENOMATOUS POLYPOSIS COLI, ATTENUATED, INCLUDED; AAPC, INCLUDED HP:0006744 Adrenocortical carcinoma IEA IEA OMIM-CS:NEOPLASIA > ADRENAL CARCINOMA OMIM:175100 HPO:skoehler 17.10.2012
OMIM:175100 #175100 FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1;;ADENOMATOUS POLYPOSIS OF THE COLON; APC;;FAMILIAL POLYPOSIS OF THE COLON; FPC;;POLYPOSIS, ADENOMATOUS INTESTINALGARDNER SYNDROME, INCLUDED; GS, INCLUDED;;BRAIN TUMOR-POLYPOSIS SYNDROME 2, INCLUDED; BTPS2, INCLUDED;;FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED, INCLUDED; AFAP, INCLUDED;;ADENOMATOUS POLYPOSIS COLI, ATTENUATED, INCLUDED; AAPC, INCLUDED HP:0009592 Astrocytoma IEA IEA OMIM-CS:NEOPLASIA > ASTROCYTOMA OMIM:175100 HPO:skoehler 17.10.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-175700.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-175700.tab 2014-10-17 11:25:06 UTC (rev 5214)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-175700.tab 2014-10-17 11:27:41 UTC (rev 5215)
@@ -13,11 +13,11 @@
MIM:175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1-1998_c.3481-5054 / wt; del7p13 / wt; t7p13 / wt GLI3 HP:0000494 Downslanted palpebral fissures PCS PCS occasional ISBN-13:978-0721606156 HPO 24.04.2012
MIM:175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1-1998_c.3481-5054 / wt; del7p13 / wt; t7p13 / wt GLI3 HP:0002648 Abnormality of calvarial morphology TAS TAS occasional MIM:175700 HPO:sdoelken 24.04.2012
MIM:175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 del7p13; t7p13 GLI3 HP:0001007 Hirsutism PCS PCS occasional PMID:11484201 HPO 24.04.2012
-MIM:175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 del7p13; t7p13 GLI3 HP:0001256 Intellectual disability, mild PCS PCS occasional ISBN-13:978-0721606156; PMID:11484201 HPO 24.04.2012
+MIM:175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 del7p13; t7p13 GLI3 HP:0001256 Intellectual disability, mild PCS PCS occasional ISBN-13:978-0721606156;PMID:11484201 HPO 24.04.2012
MIM:175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1-1998_c.3481-5054 / wt; del7p13 / wt; t7p13 / wt GLI3 HP:0001274 Agenesis of corpus callosum PCS PCS occasional ISBN-13:978-0721606156 HPO 24.04.2012
MIM:175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1-1998_c.3481-5054 / wt; del7p13 / wt; t7p13 / wt GLI3 HP:0001363 Craniosynostosis PCS PCS occasional ISBN-13:978-0721606156 HPO 24.04.2012
MIM:175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1-1998_c.3481-5054 / wt; del7p13 / wt; t7p13 / wt GLI3 HP:0001537 Umbilical hernia PCS PCS occasional ISBN-13:978-0721606156 HPO 24.04.2012
-MIM:175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 del7p13; t7p13 GLI3 HP:0001627 Abnormality of the heart PCS PCS occasional ISBN-13:978-0721606156; PMID:11484201 HPO 24.04.2012
+MIM:175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 del7p13; t7p13 GLI3 HP:0001627 Abnormality of the heart PCS PCS occasional ISBN-13:978-0721606156;PMID:11484201 HPO 24.04.2012
MIM:175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1-1998_c.3481-5054 / wt; del7p13 / wt; t7p13 / wt GLI3 HP:0001459 1-3 toe syndactyly PCS PCS 90% PMID:15739154 HPO 24.04.2012
MIM:175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1-1998_c.3481-5054 / wt; del7p13 / wt; t7p13 / wt GLI3 HP:0001836 Camptodactyly (feet) PCS PCS occasional ISBN-13:978-0721606156 HPO 24.04.2012
MIM:175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1-1998_c.3481-5054 / wt; del7p13 / wt; t7p13 / wt GLI3 HP:0001841 Preaxial polydactyly of foot PCS PCS typical ISBN-13:978-0721606156 HPO 24.04.2012
@@ -31,7 +31,7 @@
MIM:175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 del7p13; t7p13 GLI3 HP:0004303 Abnormality of muscle fibers PCS PCS occasional PMID:11484201 HPO 15.10.2009
MIM:175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1-1998_c.3481-5054 / wt; del7p13 / wt; t7p13 / wt GLI3 HP:0006097 3-4 finger syndactyly PCS PCS frequent ISBN-13:978-0721606156 HPO 15.10.2009
MIM:175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1-1998_c.3481-5054 / wt; del7p13 / wt; t7p13 / wt GLI3 HP:0010059 Broad phalanges of the hallux TAS TAS frequent MIM:175700 HPO:sdoelken 15.10.2009
-MIM:175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 del7p13; t7p13 GLI3 HP:0001250 Seizures PCS PCS occasional ISBN-13:978-0721606156; PMID:11484201 HPO 29.10.2009
+MIM:175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 del7p13; t7p13 GLI3 HP:0001250 Seizures PCS PCS occasional ISBN-13:978-0721606156;PMID:11484201 HPO 29.10.2009
MIM:175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1-1998_c.3481-5054 / wt; del7p13 / wt; t7p13 / wt GLI3 HP:0001177 Preaxial polydactyly (hands) PCS PCS occasional ISBN-13:978-0721606156 HPO 23.02.2010
OMIM:175700 #175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS;;POLYSYNDACTYLY WITH PECULIAR SKULL SHAPE HP:0000268 Dolichocephaly IEA IEA OMIM-CS:HEAD AND NECK_HEAD > SCAPHOCEPHALY OMIM:175700 HPO:skoehler 17.10.2012
OMIM:175700 #175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS;;POLYSYNDACTYLY WITH PECULIAR SKULL SHAPE HP:0000243 Trigonocephaly IEA IEA OMIM-CS:HEAD AND NECK_HEAD > TRIGONOCEPHALY OMIM:175700 HPO:skoehler 17.10.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-180849.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-180849.tab 2014-10-17 11:25:06 UTC (rev 5214)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-180849.tab 2014-10-17 11:27:41 UTC (rev 5215)
@@ -3,7 +3,7 @@
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000028 Cryptorchidism PCS PCS ISBN-13:978-0721606156 17.02.2009
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000047 Hypospadias PCS PCS Not explicitly mentioned in GeneReviews but is in OMIM's clinical synopsis. ISBN-13:978-0721606156 17.02.2009
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000049 Shawl scrotum PCS PCS Not explicitly mentioned in GeneReviews but is in OMIM's clinical synopsis. ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000156 High-arched palate PCS PCS ISBN-13:978-0721606156; http://www.ncbi.nlm.nih.gov/books/NBK1526/ 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000156 High-arched palate PCS PCS ISBN-13:978-0721606156;http://www.ncbi.nlm.nih.gov/books/NBK1526/ 17.02.2009
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000347 Micrognathia PCS PCS ISBN-13:978-0721606156 17.02.2009
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000252 Microcephaly PCS PCS ISBN-13:978-0721606156 17.02.2009
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002007 Frontal bossing PCS PCS ISBN-13:978-0721606156 17.02.2009
@@ -33,19 +33,19 @@
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001159 Syndactyly PCS PCS ISBN-13:978-0721606156 17.02.2009
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0010442 Polydactyly PCS PCS Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156 17.02.2009
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001212 Prominent fingertip pads PCS PCS ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002316 Mental retardation, moderate to severe PCS PCS ISBN-13:978-0721606156; http://www.ncbi.nlm.nih.gov/books/NBK1526/ 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002316 Mental retardation, moderate to severe PCS PCS ISBN-13:978-0721606156;http://www.ncbi.nlm.nih.gov/books/NBK1526/ 17.02.2009
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001250 Seizures PCS PCS ISBN-13:978-0721606156 17.02.2009
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001252 Muscular hypotonia PCS PCS ISBN-13:978-0721606156 17.02.2009
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001274 Agenesis of corpus callosum PCS PCS Not explicitly mentioned in GeneReviews but is in OMIM's clinical synopsis. ISBN-13:978-0721606156 17.02.2009
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001347 Hyperreflexia PCS PCS ISBN-13:978-0721606156 17.02.2009
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0004322 Short stature PCS PCS http://www.ncbi.nlm.nih.gov/books/NBK1526/ 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001510 Growth delay PCS PCS PMID:16868563 says <3rd centile so there might be a more specific term. ISBN-13:978-0721606156; http://www.ncbi.nlm.nih.gov/books/NBK1526/; PMID:16868563 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001510 Growth delay PCS PCS PMID:16868563says<3rdcentilesotheremightbeamorespecificterm. ISBN-13:978-0721606156;http://www.ncbi.nlm.nih.gov/books/NBK1526/;PMID:16868563 17.02.2009
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001584 Highly arched eyebrows PCS PCS ISBN-13:978-0721606156 17.02.2009
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001629 Ventricular septal defect PCS PCS ISBN-13:978-0721606156 17.02.2009
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001631 Defect in the atrial septum PCS PCS ISBN-13:978-0721606156 17.02.2009
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001643 Patent ductus arteriosus PCS PCS ISBN-13:978-0721606156 17.02.2009
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001763 Pes planus PCS PCS ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0009765 Low hanging columella PCS PCS GeneReviews says extending below nares but Smith's says short columella. Include both? ISBN-13:978-0721606156; http://www.ncbi.nlm.nih.gov/books/NBK1526/ 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0009765 Low hanging columella PCS PCS GeneReviews says extending below nares but Smith's says short columella. Include both? ISBN-13:978-0721606156;http://www.ncbi.nlm.nih.gov/books/NBK1526/ 17.02.2009
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002019 Constipation PCS PCS http://www.ncbi.nlm.nih.gov/books/NBK1526/ 17.02.2009
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002162 Low posterior hairline PCS PCS ISBN-13:978-0721606156 17.02.2009
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002236 Frontal upsweep of hair PCS PCS ISBN-13:978-0721606156 17.02.2009
@@ -57,7 +57,7 @@
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002697 Parietal foramina PCS PCS ISBN-13:978-0721606156 17.02.2009
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002700 Large foramen magnum PCS PCS ISBN-13:978-0721606156 17.02.2009
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002750 Delayed skeletal maturation PCS PCS ISBN-13:978-0721606156 17.02.2009
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002999 Dislocation of patella PCS PCS ISBN-13:978-0721606156; http://www.ncbi.nlm.nih.gov/books/NBK1526/ 17.02.2009
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002999 Dislocation of patella PCS PCS ISBN-13:978-0721606156;http://www.ncbi.nlm.nih.gov/books/NBK1526/ 17.02.2009
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0010055 Broad hallux PCS PCS ISBN-13:978-0721606156 17.02.2009
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0003298 Spina bifida occulta PCS PCS ISBN-13:978-0721606156 17.02.2009
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0004209 Clinodactyly of the 5th finger PCS PCS ISBN-13:978-0721606156 17.02.2009
@@ -71,16 +71,16 @@
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0003319 Abnormality of the cervical spine PCS PCS ISBN-13:978-0721606156 24.04.2012
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000077 Abnormality of the kidney PCS PCS ISBN-13:978-0721606156 24.04.2012
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0010562 Keloids PCS PCS ISBN-13:978-0721606156 24.04.2012
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000539 Abnormality of refraction PCS PCS ISBN-13:978-0721606156; http://www.ncbi.nlm.nih.gov/books/NBK1526/ 24.04.2012
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000539 Abnormality of refraction PCS PCS ISBN-13:978-0721606156;http://www.ncbi.nlm.nih.gov/books/NBK1526/ 24.04.2012
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0009921 Duane anomaly PCS PCS Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156 24.04.2012
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000520 Proptosis PCS PCS Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156 24.04.2012
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001665 Abnormality of cardiac conduction PCS PCS Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156 24.04.2012
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001371 Contracture PCS PCS Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156 24.04.2012
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000954 Single transverse palmar crease PCS PCS Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156 24.04.2012
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001042 High axial triradius PCS PCS Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156 24.04.2012
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0010066 Partial/complete duplication of the phalanges of the hallux PCS PCS ISBN-13:978-0721606156; http://www.ncbi.nlm.nih.gov/books/NBK1526/ 24.04.2012
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0010066 Partial/complete duplication of the phalanges of the hallux PCS PCS ISBN-13:978-0721606156;http://www.ncbi.nlm.nih.gov/books/NBK1526/ 24.04.2012
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0003083 Dislocated radial head PCS PCS Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156 24.04.2012
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0005743 Avascular necrosis of the capital femoral epiphysis PCS PCS ISBN-13:978-0721606156; http://www.ncbi.nlm.nih.gov/books/NBK1526/ 24.04.2012
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0005743 Avascular necrosis of the capital femoral epiphysis PCS PCS ISBN-13:978-0721606156;http://www.ncbi.nlm.nih.gov/books/NBK1526/ 24.04.2012
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000136 Bifid uterus PCS PCS Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156 24.04.2012
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0009715 Papillary cystadenoma of the epididymis PCS PCS Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156 24.04.2012
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000767 Pectus excavatum PCS PCS Not explicitly mentioned in GeneReviews. ISBN-13:978-0721606156 24.04.2012
@@ -93,7 +93,7 @@
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000273 Facial grimacing PCS PCS http://www.ncbi.nlm.nih.gov/books/NBK1526/ 24.04.2012
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0011087 Talon cusp PCS PCS http://www.ncbi.nlm.nih.gov/books/NBK1526/ 24.04.2012
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001956 Truncal obesity HP:0003621 Juvenile onset PCS PCS http://www.ncbi.nlm.nih.gov/books/NBK1526/ 24.04.2012
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000419 Abnormality of the nasal septum PCS PCS nasal septum extending below alae nasi; they also say columella extending below the nares ISBN-13:978-0721606156; http://www.ncbi.nlm.nih.gov/books/NBK1526/ 24.04.2012
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000419 Abnormality of the nasal septum PCS PCS nasal septum extending below alae nasi; they also say columella extending below the nares ISBN-13:978-0721606156;http://www.ncbi.nlm.nih.gov/books/NBK1526/ 24.04.2012
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000079 Abnormality of the urinary system PCS PCS http://www.ncbi.nlm.nih.gov/books/NBK1526/ 24.04.2012
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002788 Recurrent upper respiratory tract infections HP:0003593 Infantile onset PCS PCS Not sure about onset. http://www.ncbi.nlm.nih.gov/books/NBK1526/; PMID:16868563 24.04.2012
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001535 Poor weight gain HP:0003593 Infantile onset PCS PCS http://www.ncbi.nlm.nih.gov/books/NBK1526/ 24.04.2012
@@ -106,7 +106,7 @@
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000689 Dental malocclusion PCS PCS http://www.ncbi.nlm.nih.gov/books/NBK1526/ 24.04.2012
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000678 Dental crowding PCS PCS http://www.ncbi.nlm.nih.gov/books/NBK1526/ 24.04.2012
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0006483 Abnormal number of teeth PCS PCS http://www.ncbi.nlm.nih.gov/books/NBK1526/ 24.04.2012
-MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002664 Neoplasm PCS PCS mainly developmental and neural tumors; these are the common classes, although GeneReviews lists many by name in their Tumor section PMID:7747773; PMID:2586363 24.04.2012
+MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0002664 Neoplasm PCS PCS mainly developmental and neural tumors; these are the common classes, although GeneReviews lists many by name in their Tumor section PMID:7747773;PMID:2586363 24.04.2012
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0100710 Impulsivity PCS PCS http://www.ncbi.nlm.nih.gov/books/NBK1526/ 24.04.2012
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0000717 Autism PCS PCS http://www.ncbi.nlm.nih.gov/books/NBK1526/ 24.04.2012
MIM:180849 RUBINSTEIN-TAYBI SYNDROME 1 MIM:600140 / wt; MIM:602700 / wt; del16p13.3 CREBBP, EP300 HP:0001296 Mood alterations PCS PCS http://www.ncbi.nlm.nih.gov/books/NBK1526/ 24.04.2012
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-183600.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-183600.tab 2014-10-17 11:25:06 UTC (rev 5214)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-183600.tab 2014-10-17 11:27:41 UTC (rev 5215)
@@ -1,6 +1,6 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
MIM:183600 SPLIT-HAND/FOOT MALFORMATION 1 7q21.2-q21.3 / wt 7q21.2-q21.3 HP:0001839 Ectrodactyly (feet) PCS PCS hallmark MIM:183600 HPO 17.02.2009
-MIM:183600 SPLIT-HAND/FOOT MALFORMATION 1 7q21.2-q21.3 / wt 7q21.2-q21.3 HP:0001180 Oligodactyly (hands) PCS; ICE PCS; ICE frequent PMID:16688749; HPO:sdoelken HPO 17.02.2009
+MIM:183600 SPLIT-HAND/FOOT MALFORMATION 1 7q21.2-q21.3 / wt 7q21.2-q21.3 HP:0001180 Oligodactyly (hands) PCS; ICE PCS; ICE frequent PMID:16688749;HPO:sdoelken HPO 17.02.2009
MIM:183600 SPLIT-HAND/FOOT MALFORMATION 1 7q21.2-q21.3 / wt 7q21.2-q21.3 HP:0001171 Ectrodactyly (hands) PCS PCS hallmark MIM:183600 HPO 13.08.2010
MIM:183600 SPLIT-HAND/FOOT MALFORMATION 1 7q21.2-q21.3 / wt 7q21.2-q21.3 HP:0000006 Autosomal dominant inheritance PCS PCS PMID:16688749 HPO 13.08.2010
MIM:183600 SPLIT-HAND/FOOT MALFORMATION 1 7q21.2-q21.3 / wt 7q21.2-q21.3 HP:0000365 Hea...
[truncated message content] |
|
From: <koe...@us...> - 2014-10-17 11:25:14
|
Revision: 5214
http://sourceforge.net/p/obo/svn/5214
Author: koehlers
Date: 2014-10-17 11:25:06 +0000 (Fri, 17 Oct 2014)
Log Message:
-----------
remove unintended whitespaces
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-45.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-45.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-45.tab 2014-10-17 11:22:56 UTC (rev 5213)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-45.tab 2014-10-17 11:25:06 UTC (rev 5214)
@@ -31,4 +31,4 @@
DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002307 Drooling PCS 10/15 male PMID:17088400 15.09.2010
DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002020 Gastroesophageal reflux PCS 13/16 male PMID:17088400 15.09.2010
DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002015 Dysphagia PCS 14/16 male PMID:17088400 15.09.2010
-DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002720 Decreased IgA HP:0003578 Onset in childhood PCS 4/10 male PMID:17088400 15.09.2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002720 Decreased IgA HP:0003578 Onset in childhood PCS 4/10 male PMID:17088400 15.09.2010
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <koe...@us...> - 2014-10-17 11:23:04
|
Revision: 5213
http://sourceforge.net/p/obo/svn/5213
Author: koehlers
Date: 2014-10-17 11:22:56 +0000 (Fri, 17 Oct 2014)
Log Message:
-----------
remove unintended whitespaces
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-45.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-81.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-45.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-45.tab 2014-10-10 13:46:17 UTC (rev 5212)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-45.tab 2014-10-17 11:22:56 UTC (rev 5213)
@@ -3,7 +3,7 @@
DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0001319 Neonatal hypotonia TEA typical male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup 13.09.2010
DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0010864 Mental retardation, severe PCS obligate male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup; PMID:17088400 15.09.2010
DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0000750 Impaired language development TEA hallmark male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup 15.09.2010
-DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002191 Spasticity, progressive HP:0003578 Onset in childhood PCS 7/10 male PMID:17088400 15.09.2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002191 Spasticity, progressive HP:0003578 Onset in childhood PCS 7/10 male PMID:17088400 15.09.2010
DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002205 Recurrent respiratory infections TEA 75% male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup 15.09.2010
DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0001250 Seizures TEA 50% male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup 15.09.2010
DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0000717 Autism TEA occasional male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup 15.09.2010
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-81.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-81.tab 2014-10-10 13:46:17 UTC (rev 5212)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-81.tab 2014-10-17 11:22:56 UTC (rev 5213)
@@ -1,44 +1,44 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add'l Entity Name Age of Onset ID Age of Onset Name Evidence Frequency Abnormal ID Abnormal Name Sex Negation ID Negation Name Description Orthologs Pub Date Created
-DECIPHER:81 15q26 overgrowth syndrome trisomy/tetrasomy distal 15q HP:0001548 Overgrowth PCS common PMID:19133692; PMID:12404101 24.04.2012
-DECIPHER:81 15q26 overgrowth syndrome trisomy/tetrasomy distal 15q HP:0000085 Horseshoe kidney PCS 4/22 PMID:19133692; PMID:20603595 24.04.2012
+DECIPHER:81 15q26 overgrowth syndrome trisomy/tetrasomy distal 15q HP:0001548 Overgrowth PCS common PMID:19133692;PMID:12404101 24.04.2012
+DECIPHER:81 15q26 overgrowth syndrome trisomy/tetrasomy distal 15q HP:0000085 Horseshoe kidney PCS 4/22 PMID:19133692;PMID:20603595 24.04.2012
DECIPHER:81 15q26 overgrowth syndrome trisomy/tetrasomy distal 15q HP:0000104 Renal agenesis PCS 1/16 PMID:19133692 24.04.2012
DECIPHER:81 15q26 overgrowth syndrome trisomy/tetrasomy distal 15q HP:0000126 Hydronephrosis PCS 4/16 PMID:19133692 24.04.2012
DECIPHER:81 15q26 overgrowth syndrome trisomy/tetrasomy distal 15q HP:0000076 Vesicoureteral reflux PCS 1/16 PMID:19133692 24.04.2012
DECIPHER:81 15q26 overgrowth syndrome trisomy/tetrasomy distal 15q HP:0000113 Polycystic kidney dysplasia PCS 1/16 PMID:19133692 24.04.2012
DECIPHER:81 15q26 overgrowth syndrome trisomy/tetrasomy distal 15q HP:0005580 Duplication of renal pelvis PCS 1/16 PMID:19133692 24.04.2012
-DECIPHER:81 15q26 overgrowth syndrome trisomy/tetrasomy distal 15q HP:0001999 Facial dysmorphism PCS hallmark PMID:12404101; PMID:19133692; PMID:20603595 24.04.2012
+DECIPHER:81 15q26 overgrowth syndrome trisomy/tetrasomy distal 15q HP:0001999 Facial dysmorphism PCS hallmark PMID:12404101;PMID:19133692;PMID:20603595 24.04.2012
DECIPHER:81 15q26 overgrowth syndrome trisomy/tetrasomy distal 15q HP:0000377 Abnormality of the pinna PCS 9/10 PMID:12404101 24.04.2012
DECIPHER:81 15q26 overgrowth syndrome trisomy/tetrasomy distal 15q HP:0009890 High anterior hairline PCS 25/26 PMID:19133692 24.04.2012
-DECIPHER:81 15q26 overgrowth syndrome trisomy/tetrasomy distal 15q HP:0000303 Mandibular prognathia PCS 26/33 PMID:19133692; PMID:20603595 24.04.2012
-DECIPHER:81 15q26 overgrowth syndrome trisomy/tetrasomy distal 15q HP:0000448 Prominent nose PCS 31/36 PMID:12404101; PMID:19133692; PMID:20603595 24.04.2012
+DECIPHER:81 15q26 overgrowth syndrome trisomy/tetrasomy distal 15q HP:0000303 Mandibular prognathia PCS 26/33 PMID:19133692;PMID:20603595 24.04.2012
+DECIPHER:81 15q26 overgrowth syndrome trisomy/tetrasomy distal 15q HP:0000448 Prominent nose PCS 31/36 PMID:12404101;PMID:19133692;PMID:20603595 24.04.2012
DECIPHER:81 15q26 overgrowth syndrome trisomy/tetrasomy distal 15q HP:0001363 Craniosynostosis PCS 6/28 PMID:19133692 24.04.2012
-DECIPHER:81 15q26 overgrowth syndrome trisomy/tetrasomy distal 15q HP:0000494 Downward slanting palpebral fissures PCS 9/15 PMID:10951463; PMID:12404101 24.04.2012
+DECIPHER:81 15q26 overgrowth syndrome trisomy/tetrasomy distal 15q HP:0000494 Downward slanting palpebral fissures PCS 9/15 PMID:10951463;PMID:12404101 24.04.2012
DECIPHER:81 15q26 overgrowth syndrome tetrasomy distal 15q HP:0000414 Bulbous nose PCS 3/5 PMID:10951463 24.04.2012
DECIPHER:81 15q26 overgrowth syndrome tetrasomy distal 15q HP:0000431 Broad nasal bridge PCS 5/5 PMID:10951463 24.04.2012
DECIPHER:81 15q26 overgrowth syndrome tetrasomy distal 15q HP:0000343 Long philtrum PCS 5/5 PMID:10951463 24.04.2012
DECIPHER:81 15q26 overgrowth syndrome tetrasomy distal 15q HP:0000156 High-arched palate PCS 3/5 PMID:10951463 24.04.2012
DECIPHER:81 15q26 overgrowth syndrome tetrasomy distal 15q HP:0000347 Micrognathia PCS 4/5 PMID:10951463 24.04.2012
-DECIPHER:81 15q26 overgrowth syndrome trisomy/tetrasomy distal 15q HP:0000324 Facial asymmetry PCS 8/15 PMID:10951463; PMID:12404101 24.04.2012
+DECIPHER:81 15q26 overgrowth syndrome trisomy/tetrasomy distal 15q HP:0000324 Facial asymmetry PCS 8/15 PMID:10951463;PMID:12404101 24.04.2012
DECIPHER:81 15q26 overgrowth syndrome tetrasomy distal 15q HP:0002564 Cardiac malformation PCS 2/5 PMID:10951463 24.04.2012
-DECIPHER:81 15q26 overgrowth syndrome trisomy/tetrasomy distal 15q HP:0001249 Mental retardation PCS hallmark PMID:19133692; PMID:12404101 24.04.2012
+DECIPHER:81 15q26 overgrowth syndrome trisomy/tetrasomy distal 15q HP:0001249 Mental retardation PCS hallmark PMID:19133692;PMID:12404101 24.04.2012
DECIPHER:81 15q26 overgrowth syndrome tetrasomy distal 15q HP:0001367 Abnormality of the joints PCS 5/5 PMID:10951463 24.04.2012
DECIPHER:81 15q26 overgrowth syndrome tetrasomy distal 15q HP:0000407 Sensorineural hearing impairment PCS 3/5 PMID:10951463 24.04.2012
-DECIPHER:81 15q26 overgrowth syndrome trisomy/tetrasomy distal 15q HP:0001166 Arachnodactyly PCS 9/31 PMID:10951463; PMID:12404101; PMID:20603595 24.04.2012
+DECIPHER:81 15q26 overgrowth syndrome trisomy/tetrasomy distal 15q HP:0001166 Arachnodactyly PCS 9/31 PMID:10951463;PMID:12404101;PMID:20603595 24.04.2012
DECIPHER:81 15q26 overgrowth syndrome tetrasomy distal 15q HP:0010511 Increased length of toes PCS 4/5 PMID:10951463 24.04.2012
-DECIPHER:81 15q26 overgrowth syndrome trisomy/tetrasomy distal 15q HP:0000077 Abnormality of the kidney PCS 10/22 PMID:19133692; PMID:20603595 24.04.2012
+DECIPHER:81 15q26 overgrowth syndrome trisomy/tetrasomy distal 15q HP:0000077 Abnormality of the kidney PCS 10/22 PMID:19133692;PMID:20603595 24.04.2012
DECIPHER:81 15q26 overgrowth syndrome trisomy/tetrasomy distal 15q HP:0000486 Strabismus PCS 3/28 PMID:19133692 24.04.2012
-DECIPHER:81 15q26 overgrowth syndrome trisomy/tetrasomy distal 15q HP:0002650 Scoliosis PCS 6/30 PMID:12404101; PMID:19133692; PMID:19262081 24.04.2012
+DECIPHER:81 15q26 overgrowth syndrome trisomy/tetrasomy distal 15q HP:0002650 Scoliosis PCS 6/30 PMID:12404101;PMID:19133692;PMID:19262081 24.04.2012
DECIPHER:81 15q26 overgrowth syndrome trisomy distal 15q HP:0000256 Macrocephaly PCS 8/10 PMID:12404101 24.04.2012
-DECIPHER:81 15q26 overgrowth syndrome trisomy/tetrasomy distal 15q HP:0002564 Cardiac malformation PCS 10/39 PMID:12404101; PMID:19133692; PMID:20603595 24.04.2012
-DECIPHER:81 15q26 overgrowth syndrome trisomy/tetrasomy distal 15q HP:0000276 Long face PCS hallmark PMID:12404101; PMID:19133692; PMID:20603595 24.04.2012
+DECIPHER:81 15q26 overgrowth syndrome trisomy/tetrasomy distal 15q HP:0002564 Cardiac malformation PCS 10/39 PMID:12404101;PMID:19133692;PMID:20603595 24.04.2012
+DECIPHER:81 15q26 overgrowth syndrome trisomy/tetrasomy distal 15q HP:0000276 Long face PCS hallmark PMID:12404101;PMID:19133692;PMID:20603595 24.04.2012
DECIPHER:81 15q26 overgrowth syndrome trisomy distal 15q HP:0002167 Neurological speech impairment PCS hallmark PMID:20603595 24.04.2012
DECIPHER:81 15q26 overgrowth syndrome trisomy distal 15q HP:0000470 Short neck PCS 4/10 PMID:12404101 24.04.2012
DECIPHER:81 15q26 overgrowth syndrome trisomy distal 15q HP:0000369 Low-set ears PCS 8/10 PMID:12404101 24.04.2012
DECIPHER:81 15q26 overgrowth syndrome trisomy distal 15q HP:0002262 Puffy cheeks PCS 8/15 PMID:20603595 24.04.2012
-DECIPHER:81 15q26 overgrowth syndrome trisomy/tetrasomy distal 15q HP:0001167 Abnormality of the fingers PCS 21/31 PMID:10951463; PMID:12404101; PMID:20603595 24.04.2012
-DECIPHER:81 15q26 overgrowth syndrome trisomy distal 15q HP:0001182 Tapered fingers PCS 4/26 PMID:12404101; PMID:20603595 24.04.2012
-DECIPHER:81 15q26 overgrowth syndrome trisomy distal 15q HP:0100490 Camptodactyly (hands) PCS 4/26 PMID:12404101; PMID:20603595 24.04.2012
+DECIPHER:81 15q26 overgrowth syndrome trisomy/tetrasomy distal 15q HP:0001167 Abnormality of the fingers PCS 21/31 PMID:10951463;PMID:12404101;PMID:20603595 24.04.2012
+DECIPHER:81 15q26 overgrowth syndrome trisomy distal 15q HP:0001182 Tapered fingers PCS 4/26 PMID:12404101;PMID:20603595 24.04.2012
+DECIPHER:81 15q26 overgrowth syndrome trisomy distal 15q HP:0100490 Camptodactyly (hands) PCS 4/26 PMID:12404101;PMID:20603595 24.04.2012
DECIPHER:81 15q26 overgrowth syndrome trisomy distal 15q HP:0001780 Abnormality of the toes PCS 3/16 PMID:20603595 24.04.2012
-DECIPHER:81 15q26 overgrowth syndrome trisomy distal 15q HP:0100667 Brachydactyly (hand) PCS 3/26 PMID:12404101; PMID:20603595 24.04.2012
+DECIPHER:81 15q26 overgrowth syndrome trisomy distal 15q HP:0100667 Brachydactyly (hand) PCS 3/26 PMID:12404101;PMID:20603595 24.04.2012
DECIPHER:81 15q26 overgrowth syndrome trisomy distal 15q HP:0001382 Joint hypermobility PCS 3/10 PMID:12404101 24.04.2012
DECIPHER:81 15q26 overgrowth syndrome trisomy/tetrasomy distal 15q HP:0000325 Triangular facies PCS 8/10 PMID:12404101 03.04.2011
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <koe...@us...> - 2014-10-10 13:46:27
|
Revision: 5212
http://sourceforge.net/p/obo/svn/5212
Author: koehlers
Date: 2014-10-10 13:46:17 +0000 (Fri, 10 Oct 2014)
Log Message:
-----------
annotation updates
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604864.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612798.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614135.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615706.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615934.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616001.tab
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616037.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616039.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616040.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604864.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604864.tab 2014-10-06 14:25:28 UTC (rev 5211)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604864.tab 2014-10-10 13:46:17 UTC (rev 5212)
@@ -8,3 +8,4 @@
OMIM:604864 OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA HP:0008843 Hip osteoarthritis TAS TAS OMIM:604864 HPO:skoehler Feb 17, 2009
OMIM:604864 OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA HP:0005086 Knee osteoarthritis TAS TAS OMIM:604864 HPO:skoehler Apr 6, 2013
OMIM:604864 OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA HP:0012313 Heberden's node TAS TAS OMIM:604864 HPO:probinson Aug 10, 2013
+OMIM:604864 #604864 OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA HP:0030041 Schmorl's node IEA IEA OMIM-CS:SKELETAL_SPINE > SCHMORL'S NODES OMIM:604864 HPO:skoehler 10.10.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612798.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612798.tab 2014-10-06 14:25:28 UTC (rev 5211)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612798.tab 2014-10-10 13:46:17 UTC (rev 5212)
@@ -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:612798 QUESTION MARK EARS, ISOLATED HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:612798 HPO:skoehler 19.06.2010
+OMIM:612798 #612798 QUESTION MARK EARS, ISOLATED; QME;;EARS, PROMINENT AND CONSTRICTED;;COSMAN DEFORMITY OF THE AURICLE;;AURICULAR CLEFT, CONGENITAL HP:0030022 Question mark ear IEA IEA OMIM-CS:HEAD AND NECK_EARS > QUESTION MARK EARS OMIM:612798 HPO:skoehler 10.10.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614135.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614135.tab 2014-10-06 14:25:28 UTC (rev 5211)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614135.tab 2014-10-10 13:46:17 UTC (rev 5212)
@@ -7,3 +7,4 @@
OMIM:614135 #614135 EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6 HP:0002829 Arthralgia IEA IEA OMIM-CS:SKELETAL_LIMBS > KNEE ARTHRALGIA OMIM:614135 HPO:skoehler Nov 21, 2012
OMIM:614135 #614135 EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6 HP:0003365 Arthralgia of the hip IEA IEA OMIM-CS:SKELETAL_PELVIS > HIP ARTHRALGIA OMIM:614135 HPO:skoehler Nov 21, 2012
OMIM:614135 #614135 EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6 HP:0005106 Abnormality of the vertebral endplates IEA IEA OMIM-CS:SKELETAL_SPINE > ENDPLATE IRREGULARITIES (THORACIC-LUMBAR VERTEBRAE) OMIM:614135 HPO:skoehler Nov 21, 2012
+OMIM:614135 #614135 EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6 HP:0030041 Schmorl's node IEA IEA OMIM-CS:SKELETAL_SPINE > SCHMORL'S NODES OMIM:614135 HPO:skoehler 10.10.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615706.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615706.tab 2014-10-06 14:25:28 UTC (rev 5211)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615706.tab 2014-10-10 13:46:17 UTC (rev 5212)
@@ -9,3 +9,4 @@
OMIM:615706 #615706 AURICULOCONDYLAR SYNDROME 3; ARCND3 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:615706 HPO:skoehler 04.04.2014
OMIM:615706 #615706 AURICULOCONDYLAR SYNDROME 3; ARCND3 HP:0008751 Laryngeal cleft IEA IEA OMIM-CS:RESPIRATORY_LARYNX > LARYNGEAL CLEFT OMIM:615706 HPO:skoehler 04.04.2014
OMIM:615706 #615706 AURICULOCONDYLAR SYNDROME 3; ARCND3 HP:0000347 Micrognathia IEA IEA OMIM-CS:SKELETAL_SKULL > MANDIBULAR HYPOPLASIA OMIM:615706 HPO:skoehler 04.04.2014
+OMIM:615706 #615706 AURICULOCONDYLAR SYNDROME 3; ARCND3 HP:0030022 Question mark ear IEA IEA OMIM-CS:HEAD AND NECK_EARS > QUESTION MARK EARS OMIM:615706 HPO:skoehler 10.10.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615934.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615934.tab 2014-10-06 14:25:28 UTC (rev 5211)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615934.tab 2014-10-10 13:46:17 UTC (rev 5212)
@@ -18,3 +18,4 @@
OMIM:615934 #615934 STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET; SAVI HP:0010783 Erythema IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > ERYTHEMA OMIM:615934 HPO:skoehler 24.08.2014
OMIM:615934 #615934 STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET; SAVI HP:0000965 Cutis marmorata IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > LIVEDO RETICULARIS OMIM:615934 HPO:skoehler 24.08.2014
OMIM:615934 #615934 STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET; SAVI HP:0001009 Telangiectasia IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > TELANGIECTASIA OMIM:615934 HPO:skoehler 24.08.2014
+OMIM:615934 #615934 STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET; SAVI HP:0200039 Pustule IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > PUSTULES OMIM:615934 HPO:skoehler 10.10.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616001.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616001.tab 2014-10-06 14:25:28 UTC (rev 5211)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616001.tab 2014-10-10 13:46:17 UTC (rev 5212)
@@ -2,3 +2,4 @@
OMIM:616001 #616001 BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2; BNAH2 HP:0000319 Smooth philtrum IEA IEA OMIM-CS:HEAD AND NECK_FACE > FLAT PHILTRUM OMIM:616001 HPO:skoehler 21.09.2014
OMIM:616001 #616001 BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2; BNAH2 HP:0000463 Anteverted nares IEA IEA OMIM-CS:HEAD AND NECK_NOSE > ANTEVERTED NARES OMIM:616001 HPO:skoehler 21.09.2014
OMIM:616001 #616001 BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2; BNAH2 HP:0000455 Broad nasal tip IEA IEA OMIM-CS:HEAD AND NECK_NOSE > BROAD NASAL TIP OMIM:616001 HPO:skoehler 21.09.2014
+OMIM:616001 #616001 BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2; BNAH2 HP:0000385 Small earlobe IEA IEA OMIM-CS:HEAD AND NECK_EARS > SMALL EARLOBES OMIM:616001 HPO:skoehler 10.10.2014
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616037.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616037.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616037.tab 2014-10-10 13:46:17 UTC (rev 5212)
@@ -0,0 +1,12 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:616037 #616037 CILIARY DYSKINESIA, PRIMARY, 30; CILD30;;CILIARY DYSKINESIA, PRIMARY, 30, WITH OR WITHOUT SITUS INVERSUS HP:0001696 Situs inversus totalis IEA IEA OMIM-CS:ABDOMEN > SITUS INVERSUS (IN ABOUT 50% OF PATIENTS) OMIM:616037 HPO:skoehler 10.10.2014
+OMIM:616037 #616037 CILIARY DYSKINESIA, PRIMARY, 30; CILD30;;CILIARY DYSKINESIA, PRIMARY, 30, WITH OR WITHOUT SITUS INVERSUS HP:0001651 Dextrocardia IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > DEXTROCARDIA (IN SOME PATIENTS) OMIM:616037 HPO:skoehler 10.10.2014
+OMIM:616037 #616037 CILIARY DYSKINESIA, PRIMARY, 30; CILD30;;CILIARY DYSKINESIA, PRIMARY, 30, WITH OR WITHOUT SITUS INVERSUS HP:0000403 Recurrent otitis media IEA IEA OMIM-CS:HEAD AND NECK_EARS > OTITIS MEDIA, RECURRENT OMIM:616037 HPO:skoehler 10.10.2014
+OMIM:616037 #616037 CILIARY DYSKINESIA, PRIMARY, 30; CILD30;;CILIARY DYSKINESIA, PRIMARY, 30, WITH OR WITHOUT SITUS INVERSUS HP:0100582 Nasal polyposis IEA IEA OMIM-CS:HEAD AND NECK_NOSE > NASAL POLYPS OMIM:616037 HPO:skoehler 10.10.2014
+OMIM:616037 #616037 CILIARY DYSKINESIA, PRIMARY, 30; CILD30;;CILIARY DYSKINESIA, PRIMARY, 30, WITH OR WITHOUT SITUS INVERSUS HP:0002099 Asthma IEA IEA OMIM-CS:RESPIRATORY > ASTHMA OMIM:616037 HPO:skoehler 10.10.2014
+OMIM:616037 #616037 CILIARY DYSKINESIA, PRIMARY, 30; CILD30;;CILIARY DYSKINESIA, PRIMARY, 30, WITH OR WITHOUT SITUS INVERSUS HP:0012735 Cough IEA IEA OMIM-CS:RESPIRATORY > COUGH OMIM:616037 HPO:skoehler 10.10.2014
+OMIM:616037 #616037 CILIARY DYSKINESIA, PRIMARY, 30; CILD30;;CILIARY DYSKINESIA, PRIMARY, 30, WITH OR WITHOUT SITUS INVERSUS HP:0002205 Recurrent respiratory infections IEA IEA OMIM-CS:RESPIRATORY > RESPIRATORY INFECTIONS, RECURRENT OMIM:616037 HPO:skoehler 10.10.2014
+OMIM:616037 #616037 CILIARY DYSKINESIA, PRIMARY, 30; CILD30;;CILIARY DYSKINESIA, PRIMARY, 30, WITH OR WITHOUT SITUS INVERSUS HP:0200073 Respiratory insufficiency due to defective ciliary clearance IEA IEA OMIM-CS:RESPIRATORY > RESPIRATORY INSUFFICIENCY DUE TO DEFECTIVE CILIARY CLEARANCE OMIM:616037 HPO:skoehler 10.10.2014
+OMIM:616037 #616037 CILIARY DYSKINESIA, PRIMARY, 30; CILD30;;CILIARY DYSKINESIA, PRIMARY, 30, WITH OR WITHOUT SITUS INVERSUS HP:0002093 Respiratory insufficiency HP:0003623 Neonatal onset IEA IEA OMIM-CS:RESPIRATORY > RESPIRATORY INSUFFICIENCY, NEONATAL OMIM:616037 HPO:skoehler 10.10.2014
+OMIM:616037 #616037 CILIARY DYSKINESIA, PRIMARY, 30; CILD30;;CILIARY DYSKINESIA, PRIMARY, 30, WITH OR WITHOUT SITUS INVERSUS HP:0004469 Chronic bronchitis IEA IEA OMIM-CS:RESPIRATORY_AIRWAYS > CHRONIC BRONCHITIS OMIM:616037 HPO:skoehler 10.10.2014
+OMIM:616037 #616037 CILIARY DYSKINESIA, PRIMARY, 30; CILD30;;CILIARY DYSKINESIA, PRIMARY, 30, WITH OR WITHOUT SITUS INVERSUS HP:0002110 Bronchiectasis IEA IEA OMIM-CS:RESPIRATORY_LUNGS > BRONCHIECTASIS OMIM:616037 HPO:skoehler 10.10.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616037.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616039.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616039.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616039.tab 2014-10-10 13:46:17 UTC (rev 5212)
@@ -0,0 +1,9 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:616039 #616039 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D; CMTRID HP:0009830 Peripheral neuropathy IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > PERIPHERAL NEUROPATHY OMIM:616039 HPO:skoehler 10.10.2014
+OMIM:616039 #616039 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D; CMTRID HP:0001284 Areflexia IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > AREFLEXIA OMIM:616039 HPO:skoehler 10.10.2014
+OMIM:616039 #616039 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D; CMTRID HP:0002936 Distal sensory impairment IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > DISTAL SENSORY IMPAIRMENT OMIM:616039 HPO:skoehler 10.10.2014
+OMIM:616039 #616039 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D; CMTRID HP:0009027 Foot dorsiflexor weakness IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > FOOT DROP OMIM:616039 HPO:skoehler 10.10.2014
+OMIM:616039 #616039 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D; CMTRID HP:0001265 Hyporeflexia IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > HYPOREFLEXIA OMIM:616039 HPO:skoehler 10.10.2014
+OMIM:616039 #616039 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D; CMTRID HP:0003383 Onion bulb formation IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > ONION BULB FORMATION OMIM:616039 HPO:skoehler 10.10.2014
+OMIM:616039 #616039 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D; CMTRID HP:0003376 Steppage gait IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > STEPPAGE GAIT OMIM:616039 HPO:skoehler 10.10.2014
+OMIM:616039 #616039 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D; CMTRID HP:0001761 Pes cavus IEA IEA OMIM-CS:SKELETAL_FEET > PES CAVUS OMIM:616039 HPO:skoehler 10.10.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616039.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616040.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616040.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616040.tab 2014-10-10 13:46:17 UTC (rev 5212)
@@ -0,0 +1,10 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:616040 #616040 MYASTHENIC SYNDROME, PRESYNAPTIC, CONGENITAL, WITH OR WITHOUT MOTORNEUROPATHY; MYSPC HP:0000365 Hearing impairment IEA IEA rare OMIM-CS:HEAD AND NECK_EARS > HEARING LOSS (2 PATIENTS) OMIM:616040 HPO:skoehler 10.10.2014
+OMIM:616040 #616040 MYASTHENIC SYNDROME, PRESYNAPTIC, CONGENITAL, WITH OR WITHOUT MOTORNEUROPATHY; MYSPC HP:0001288 Gait disturbance IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > GAIT ABNORMALITIES OMIM:616040 HPO:skoehler 10.10.2014
+OMIM:616040 #616040 MYASTHENIC SYNDROME, PRESYNAPTIC, CONGENITAL, WITH OR WITHOUT MOTORNEUROPATHY; MYSPC HP:0003202 Amyotrophy IEA IEA rare OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE ATROPHY (IN SOME PATIENTS) OMIM:616040 HPO:skoehler 10.10.2014
+OMIM:616040 #616040 MYASTHENIC SYNDROME, PRESYNAPTIC, CONGENITAL, WITH OR WITHOUT MOTORNEUROPATHY; MYSPC HP:0003701 Proximal muscle weakness IEA IEA rare OMIM-CS:MUSCLE, SOFT TISSUE > PROXIMAL MUSCLE WEAKNESS (IN SOME PATIENTS) OMIM:616040 HPO:skoehler 10.10.2014
+OMIM:616040 #616040 MYASTHENIC SYNDROME, PRESYNAPTIC, CONGENITAL, WITH OR WITHOUT MOTORNEUROPATHY; MYSPC HP:0001284 Areflexia IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > AREFLEXIA OMIM:616040 HPO:skoehler 10.10.2014
+OMIM:616040 #616040 MYASTHENIC SYNDROME, PRESYNAPTIC, CONGENITAL, WITH OR WITHOUT MOTORNEUROPATHY; MYSPC HP:0001265 Hyporeflexia IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > HYPOREFLEXIA OMIM:616040 HPO:skoehler 10.10.2014
+OMIM:616040 #616040 MYASTHENIC SYNDROME, PRESYNAPTIC, CONGENITAL, WITH OR WITHOUT MOTORNEUROPATHY; MYSPC HP:0001760 Abnormality of the foot IEA IEA OMIM-CS:SKELETAL_ FEET > FOOT DEFORMITIES OMIM:616040 HPO:skoehler 10.10.2014
+OMIM:616040 #616040 MYASTHENIC SYNDROME, PRESYNAPTIC, CONGENITAL, WITH OR WITHOUT MOTORNEUROPATHY; MYSPC HP:0001765 Hammertoe IEA IEA OMIM-CS:SKELETAL_ FEET > HAMMERTOES OMIM:616040 HPO:skoehler 10.10.2014
+OMIM:616040 #616040 MYASTHENIC SYNDROME, PRESYNAPTIC, CONGENITAL, WITH OR WITHOUT MOTORNEUROPATHY; MYSPC HP:0001761 Pes cavus IEA IEA OMIM-CS:SKELETAL_ FEET > PES CAVUS OMIM:616040 HPO:skoehler 10.10.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616040.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <koe...@us...> - 2014-10-06 14:25:33
|
Revision: 5211
http://sourceforge.net/p/obo/svn/5211
Author: koehlers
Date: 2014-10-06 14:25:28 +0000 (Mon, 06 Oct 2014)
Log Message:
-----------
annotation updates
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-131200.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-234050.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-248900.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300882.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600001.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603671.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606056.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606408.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610505.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611228.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611521.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612164.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612240.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612989.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613680.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615035.tab
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612691.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613451.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615744.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615750.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615751.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615760.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615945.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615948.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615952.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615957.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615959.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615960.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615962.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615963.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615979.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616002.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616005.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616006.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616022.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616028.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616030.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616033.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-131200.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-131200.tab 2014-10-06 13:04:42 UTC (rev 5210)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-131200.tab 2014-10-06 14:25:28 UTC (rev 5211)
@@ -4,3 +4,4 @@
OMIM:131200 ENDOMETRIOSIS, SUSCEPTIBILITY TO, 1 HP:0001426 Multifactorial inheritance IEA IEA OMIM:131200 HPO 17.02.2009
OMIM:131200 %131200 ENDOMETRIOSIS, SUSCEPTIBILITY TO, 1;;ENDO1 HP:0100607 Dysmenorrhea IEA IEA MODIFIER:SEVERE;OMIM-CS:GENITOURINARY_INTERNAL GENITALIA, FEMALE > DYSMENORRHEA, SEVERE OMIM:131200 HPO:skoehler 06.06.2013
OMIM:131200 %131200 ENDOMETRIOSIS, SUSCEPTIBILITY TO, 1;;ENDO1 HP:0030013 Endometriosis IEA IEA OMIM-CS:GENITOURINARY_INTERNAL GENITALIA, FEMALE > ENDOMETRIOSIS OMIM:131200 HPO:skoehler 21.09.2014
+OMIM:131200 %131200 ENDOMETRIOSIS, SUSCEPTIBILITY TO, 1;;ENDO1 HP:0030127 Endometriosis IEA IEA OMIM-CS:GENITOURINARY_INTERNAL GENITALIA, FEMALE > ENDOMETRIOSIS OMIM:131200 HPO:skoehler 06.10.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-234050.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-234050.tab 2014-10-06 13:04:42 UTC (rev 5210)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-234050.tab 2014-10-06 14:25:28 UTC (rev 5211)
@@ -3,3 +3,24 @@
OMIM:234050 TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1 HP:0001249 Intellectual disability IEA IEA OMIM:234050 HPO 17.02.2009
OMIM:234050 TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1 HP:0010719 Abnormality of hair texture IEA IEA OMIM:234050 HPO 17.02.2009
OMIM:234050 #234050 TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1;;AMISH BRITTLE HAIR BRAIN SYNDROME; ABHS;;HAIR-BRAIN SYNDROME;;BIDS SYNDROME HP:0002299 Brittle hair IEA IEA OMIM-CS:SKIN > BRITTLE HAIR OMIM:234050 HPO:skoehler 17.10.2012
+OMIM:234050 #234050 TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1;;AMISH BRITTLE HAIR BRAIN SYNDROME; ABHS;;HAIR-BRAIN SYNDROME;;BIDS SYNDROME;;TRICHORRHEXIS NODOSA SYNDROME;;POLLITT SYNDROME;;TRICHOTHIODYSTROPHY-NEUROCUTANEOUS SYNDROME HP:0001629 Ventricular septal defect IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > VENTRICULAR SEPTAL DEFECT (RARE) OMIM:234050 HPO:skoehler 06.10.2014
+OMIM:234050 #234050 TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1;;AMISH BRITTLE HAIR BRAIN SYNDROME; ABHS;;HAIR-BRAIN SYNDROME;;BIDS SYNDROME;;TRICHORRHEXIS NODOSA SYNDROME;;POLLITT SYNDROME;;TRICHOTHIODYSTROPHY-NEUROCUTANEOUS SYNDROME HP:0000144 Decreased fertility IEA IEA OMIM-CS:GENITOURINARY_INTERNAL GENITALIA, FEMALE > DECREASED FERTILITY OMIM:234050 HPO:skoehler 06.10.2014
+OMIM:234050 #234050 TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1;;AMISH BRITTLE HAIR BRAIN SYNDROME; ABHS;;HAIR-BRAIN SYNDROME;;BIDS SYNDROME;;TRICHORRHEXIS NODOSA SYNDROME;;POLLITT SYNDROME;;TRICHOTHIODYSTROPHY-NEUROCUTANEOUS SYNDROME HP:0000144 Decreased fertility IEA IEA OMIM-CS:GENITOURINARY_INTERNAL GENITALIA, MALE > DECREASED FERTILITY OMIM:234050 HPO:skoehler 06.10.2014
+OMIM:234050 #234050 TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1;;AMISH BRITTLE HAIR BRAIN SYNDROME; ABHS;;HAIR-BRAIN SYNDROME;;BIDS SYNDROME;;TRICHORRHEXIS NODOSA SYNDROME;;POLLITT SYNDROME;;TRICHOTHIODYSTROPHY-NEUROCUTANEOUS SYNDROME HP:0001510 Growth delay IEA IEA OMIM-CS:GROWTH_OTHER > GROWTH RETARDATION OMIM:234050 HPO:skoehler 06.10.2014
+OMIM:234050 #234050 TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1;;AMISH BRITTLE HAIR BRAIN SYNDROME; ABHS;;HAIR-BRAIN SYNDROME;;BIDS SYNDROME;;TRICHORRHEXIS NODOSA SYNDROME;;POLLITT SYNDROME;;TRICHOTHIODYSTROPHY-NEUROCUTANEOUS SYNDROME HP:0000400 Macrotia IEA IEA OMIM-CS:HEAD AND NECK_EARS > LARGE EARS OMIM:234050 HPO:skoehler 06.10.2014
+OMIM:234050 #234050 TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1;;AMISH BRITTLE HAIR BRAIN SYNDROME; ABHS;;HAIR-BRAIN SYNDROME;;BIDS SYNDROME;;TRICHORRHEXIS NODOSA SYNDROME;;POLLITT SYNDROME;;TRICHOTHIODYSTROPHY-NEUROCUTANEOUS SYNDROME HP:0000286 Epicanthus IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > EPICANTHAL FOLDS (RARE) OMIM:234050 HPO:skoehler 06.10.2014
+OMIM:234050 #234050 TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1;;AMISH BRITTLE HAIR BRAIN SYNDROME; ABHS;;HAIR-BRAIN SYNDROME;;BIDS SYNDROME;;TRICHORRHEXIS NODOSA SYNDROME;;POLLITT SYNDROME;;TRICHOTHIODYSTROPHY-NEUROCUTANEOUS SYNDROME HP:0000639 Nystagmus IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > NYSTAGMUS (RARE) OMIM:234050 HPO:skoehler 06.10.2014
+OMIM:234050 #234050 TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1;;AMISH BRITTLE HAIR BRAIN SYNDROME; ABHS;;HAIR-BRAIN SYNDROME;;BIDS SYNDROME;;TRICHORRHEXIS NODOSA SYNDROME;;POLLITT SYNDROME;;TRICHOTHIODYSTROPHY-NEUROCUTANEOUS SYNDROME HP:0000648 Optic atrophy IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > OPTIC ATROPHY (RARE) OMIM:234050 HPO:skoehler 06.10.2014
+OMIM:234050 #234050 TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1;;AMISH BRITTLE HAIR BRAIN SYNDROME; ABHS;;HAIR-BRAIN SYNDROME;;BIDS SYNDROME;;TRICHORRHEXIS NODOSA SYNDROME;;POLLITT SYNDROME;;TRICHOTHIODYSTROPHY-NEUROCUTANEOUS SYNDROME HP:0000252 Microcephaly IEA IEA OMIM-CS:HEAD AND NECK_HEAD > MICROCEPHALY OMIM:234050 HPO:skoehler 06.10.2014
+OMIM:234050 #234050 TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1;;AMISH BRITTLE HAIR BRAIN SYNDROME; ABHS;;HAIR-BRAIN SYNDROME;;BIDS SYNDROME;;TRICHORRHEXIS NODOSA SYNDROME;;POLLITT SYNDROME;;TRICHOTHIODYSTROPHY-NEUROCUTANEOUS SYNDROME HP:0000463 Anteverted nares IEA IEA rare OMIM-CS:HEAD AND NECK_NOSE > ANTEVERTED NARES (RARE) OMIM:234050 HPO:skoehler 06.10.2014
+OMIM:234050 #234050 TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1;;AMISH BRITTLE HAIR BRAIN SYNDROME; ABHS;;HAIR-BRAIN SYNDROME;;BIDS SYNDROME;;TRICHORRHEXIS NODOSA SYNDROME;;POLLITT SYNDROME;;TRICHOTHIODYSTROPHY-NEUROCUTANEOUS SYNDROME HP:0003196 Short nose IEA IEA rare OMIM-CS:HEAD AND NECK_NOSE > SHORT NOSE (RARE) OMIM:234050 HPO:skoehler 06.10.2014
+OMIM:234050 #234050 TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1;;AMISH BRITTLE HAIR BRAIN SYNDROME; ABHS;;HAIR-BRAIN SYNDROME;;BIDS SYNDROME;;TRICHORRHEXIS NODOSA SYNDROME;;POLLITT SYNDROME;;TRICHOTHIODYSTROPHY-NEUROCUTANEOUS SYNDROME HP:0000685 Hypoplasia of teeth IEA IEA rare OMIM-CS:HEAD AND NECK_TEETH > HYPOPLASTIC TEETH (RARE) OMIM:234050 HPO:skoehler 06.10.2014
+OMIM:234050 #234050 TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1;;AMISH BRITTLE HAIR BRAIN SYNDROME; ABHS;;HAIR-BRAIN SYNDROME;;BIDS SYNDROME;;TRICHORRHEXIS NODOSA SYNDROME;;POLLITT SYNDROME;;TRICHOTHIODYSTROPHY-NEUROCUTANEOUS SYNDROME HP:0002120 Cerebral cortical atrophy IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CORTICAL ATROPHY (RARE) OMIM:234050 HPO:skoehler 06.10.2014
+OMIM:234050 #234050 TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1;;AMISH BRITTLE HAIR BRAIN SYNDROME; ABHS;;HAIR-BRAIN SYNDROME;;BIDS SYNDROME;;TRICHORRHEXIS NODOSA SYNDROME;;POLLITT SYNDROME;;TRICHOTHIODYSTROPHY-NEUROCUTANEOUS SYNDROME HP:0006829 Severe muscular hypotonia IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPOTONIA, SEVERE (RARE) OMIM:234050 HPO:skoehler 06.10.2014
+OMIM:234050 #234050 TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1;;AMISH BRITTLE HAIR BRAIN SYNDROME; ABHS;;HAIR-BRAIN SYNDROME;;BIDS SYNDROME;;TRICHORRHEXIS NODOSA SYNDROME;;POLLITT SYNDROME;;TRICHOTHIODYSTROPHY-NEUROCUTANEOUS SYNDROME HP:0001338 Partial agenesis of the corpus callosum IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PARTIAL AGENESIS OF THE CORPUS CALLOSUM (RARE) OMIM:234050 HPO:skoehler 06.10.2014
+OMIM:234050 #234050 TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1;;AMISH BRITTLE HAIR BRAIN SYNDROME; ABHS;;HAIR-BRAIN SYNDROME;;BIDS SYNDROME;;TRICHORRHEXIS NODOSA SYNDROME;;POLLITT SYNDROME;;TRICHOTHIODYSTROPHY-NEUROCUTANEOUS SYNDROME HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PSYCHOMOTOR RETARDATION OMIM:234050 HPO:skoehler 06.10.2014
+OMIM:234050 #234050 TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1;;AMISH BRITTLE HAIR BRAIN SYNDROME; ABHS;;HAIR-BRAIN SYNDROME;;BIDS SYNDROME;;TRICHORRHEXIS NODOSA SYNDROME;;POLLITT SYNDROME;;TRICHOTHIODYSTROPHY-NEUROCUTANEOUS SYNDROME HP:0008070 Sparse hair IEA IEA OMIM-CS:SKIN, NAILS, HAIR_HAIR > SPARSE HAIR OMIM:234050 HPO:skoehler 06.10.2014
+OMIM:234050 #234050 TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1;;AMISH BRITTLE HAIR BRAIN SYNDROME; ABHS;;HAIR-BRAIN SYNDROME;;BIDS SYNDROME;;TRICHORRHEXIS NODOSA SYNDROME;;POLLITT SYNDROME;;TRICHOTHIODYSTROPHY-NEUROCUTANEOUS SYNDROME HP:0009886 Trichorrhexis nodosa IEA IEA OMIM-CS:SKIN, NAILS, HAIR_HAIR > TRICHORRHEXIS NODOSA OMIM:234050 HPO:skoehler 06.10.2014
+OMIM:234050 #234050 TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1;;AMISH BRITTLE HAIR BRAIN SYNDROME; ABHS;;HAIR-BRAIN SYNDROME;;BIDS SYNDROME;;TRICHORRHEXIS NODOSA SYNDROME;;POLLITT SYNDROME;;TRICHOTHIODYSTROPHY-NEUROCUTANEOUS SYNDROME HP:0002164 Nail dysplasia IEA IEA OMIM-CS:SKIN, NAILS, HAIR_NAILS > DYSPLASTIC NAILS OMIM:234050 HPO:skoehler 06.10.2014
+OMIM:234050 #234050 TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1;;AMISH BRITTLE HAIR BRAIN SYNDROME; ABHS;;HAIR-BRAIN SYNDROME;;BIDS SYNDROME;;TRICHORRHEXIS NODOSA SYNDROME;;POLLITT SYNDROME;;TRICHOTHIODYSTROPHY-NEUROCUTANEOUS SYNDROME HP:0001792 Small nail IEA IEA OMIM-CS:SKIN, NAILS, HAIR_NAILS > HYPOPLASTIC NAILS OMIM:234050 HPO:skoehler 06.10.2014
+OMIM:234050 #234050 TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1;;AMISH BRITTLE HAIR BRAIN SYNDROME; ABHS;;HAIR-BRAIN SYNDROME;;BIDS SYNDROME;;TRICHORRHEXIS NODOSA SYNDROME;;POLLITT SYNDROME;;TRICHOTHIODYSTROPHY-NEUROCUTANEOUS SYNDROME HP:0001598 Concave nail IEA IEA OMIM-CS:SKIN, NAILS, HAIR_NAILS > SPOON-SHAPED NAILS OMIM:234050 HPO:skoehler 06.10.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-248900.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-248900.tab 2014-10-06 13:04:42 UTC (rev 5210)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-248900.tab 2014-10-06 14:25:28 UTC (rev 5211)
@@ -3,3 +3,16 @@
OMIM:248900 MAST SYNDROME HP:0000726 Dementia IEA IEA OMIM:248900 HPO:skoehler 20.06.2010
OMIM:248900 MAST SYNDROME HP:0002313 Spastic paraparesis IEA IEA OMIM:248900 HPO 17.02.2009
OMIM:248900 MAST SYNDROME HP:0011007 Age of onset IEA IEA OMIM:248900 HPO 17.02.2009
+OMIM:248900 #248900 MAST SYNDROME;;SPASTIC PARAPLEGIA 21, AUTOSOMAL RECESSIVE; SPG21 HP:0002015 Dysphagia IEA IEA rare OMIM-CS:ABDOMEN_GASTROINTESTINAL > DYSPHAGIA (IN SOME PATIENTS) OMIM:248900 HPO:skoehler 06.10.2014
+OMIM:248900 #248900 MAST SYNDROME;;SPASTIC PARAPLEGIA 21, AUTOSOMAL RECESSIVE; SPG21 HP:0007340 Lower limb muscle weakness IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > LOWER LIMB WEAKNESS OMIM:248900 HPO:skoehler 06.10.2014
+OMIM:248900 #248900 MAST SYNDROME;;SPASTIC PARAPLEGIA 21, AUTOSOMAL RECESSIVE; SPG21 HP:0012672 Akinetic mutism IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > AKINETIC MUTISM (IN SOME PATIENTS) OMIM:248900 HPO:skoehler 06.10.2014
+OMIM:248900 #248900 MAST SYNDROME;;SPASTIC PARAPLEGIA 21, AUTOSOMAL RECESSIVE; SPG21 HP:0002186 Apraxia IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > APRAXIA (IN SOME PATIENTS) OMIM:248900 HPO:skoehler 06.10.2014
+OMIM:248900 #248900 MAST SYNDROME;;SPASTIC PARAPLEGIA 21, AUTOSOMAL RECESSIVE; SPG21 HP:0001317 Abnormality of the cerebellum IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR SIGNS (IN SOME PATIENTS) OMIM:248900 HPO:skoehler 06.10.2014
+OMIM:248900 #248900 MAST SYNDROME;;SPASTIC PARAPLEGIA 21, AUTOSOMAL RECESSIVE; SPG21 HP:0001270 Motor delay IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED MOTOR DEVELOPMENT (IN SOME PATIENTS) OMIM:248900 HPO:skoehler 06.10.2014
+OMIM:248900 #248900 MAST SYNDROME;;SPASTIC PARAPLEGIA 21, AUTOSOMAL RECESSIVE; SPG21 HP:0001260 Dysarthria IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DYSARTHRIA (IN SOME PATIENTS) OMIM:248900 HPO:skoehler 06.10.2014
+OMIM:248900 #248900 MAST SYNDROME;;SPASTIC PARAPLEGIA 21, AUTOSOMAL RECESSIVE; SPG21 HP:0003487 Babinski sign IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > EXTENSOR PLANTAR RESPONSES OMIM:248900 HPO:skoehler 06.10.2014
+OMIM:248900 #248900 MAST SYNDROME;;SPASTIC PARAPLEGIA 21, AUTOSOMAL RECESSIVE; SPG21 HP:0001288 Gait disturbance IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > GAIT DISTURBANCES OMIM:248900 HPO:skoehler 06.10.2014
+OMIM:248900 #248900 MAST SYNDROME;;SPASTIC PARAPLEGIA 21, AUTOSOMAL RECESSIVE; SPG21 HP:0001347 Hyperreflexia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPERREFLEXIA OMIM:248900 HPO:skoehler 06.10.2014
+OMIM:248900 #248900 MAST SYNDROME;;SPASTIC PARAPLEGIA 21, AUTOSOMAL RECESSIVE; SPG21 HP:0002476 Primitive reflexes (palmomental, snout, glabellar) IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PRIMITIVE REFLEXES (IN SOME PATIENTS) OMIM:248900 HPO:skoehler 06.10.2014
+OMIM:248900 #248900 MAST SYNDROME;;SPASTIC PARAPLEGIA 21, AUTOSOMAL RECESSIVE; SPG21 HP:0001258 Spastic paraplegia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SPASTIC PARAPLEGIA OMIM:248900 HPO:skoehler 06.10.2014
+OMIM:248900 #248900 MAST SYNDROME;;SPASTIC PARAPLEGIA 21, AUTOSOMAL RECESSIVE; SPG21 HP:0009830 Peripheral neuropathy IEA IEA rare OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > PERIPHERAL NEUROPATHY (IN SOME PATIENTS) OMIM:248900 HPO:skoehler 06.10.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300882.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300882.tab 2014-10-06 13:04:42 UTC (rev 5210)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300882.tab 2014-10-06 14:25:28 UTC (rev 5211)
@@ -25,3 +25,18 @@
OMIM:300882 #300882 CORNELIA DE LANGE SYNDROME 5; CDLS5 HDAC8 HP:0001263 Global developmental delay IEA IEA 5/5 pmid:22885700 HPO:probinson Mar 23, 2013
OMIM:300882 #300882 CORNELIA DE LANGE SYNDROME 5; CDLS5 HDAC8 HP:0002119 Ventriculomegaly IEA IEA 3/5 pmid:22885700 HPO:probinson Mar 23, 2013
OMIM:300882 #300882 CORNELIA DE LANGE SYNDROME 5; CDLS5 HDAC8 HP:0001250 Seizures IEA IEA pmid:22885700 HPO:probinson Mar 23, 2013
+OMIM:300882 #300882 CORNELIA DE LANGE SYNDROME 5; CDLS5 HP:0002020 Gastroesophageal reflux IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > GASTROESOPHAGEAL REFLUX OMIM:300882 HPO:skoehler 06.10.2014
+OMIM:300882 #300882 CORNELIA DE LANGE SYNDROME 5; CDLS5 HP:0008897 Postnatal growth retardation IEA IEA OMIM-CS:GROWTH_OTHER > POSTNATAL GROWTH RETARDATION OMIM:300882 HPO:skoehler 06.10.2014
+OMIM:300882 #300882 CORNELIA DE LANGE SYNDROME 5; CDLS5 HP:0000365 Hearing impairment IEA IEA rare OMIM-CS:HEAD AND NECK_EARS > HEARING LOSS (IN SOME PATIENTS) OMIM:300882 HPO:skoehler 06.10.2014
+OMIM:300882 #300882 CORNELIA DE LANGE SYNDROME 5; CDLS5 HP:0000316 Hypertelorism IEA IEA OMIM-CS:HEAD AND NECK_EYES > HYPERTELORISM OMIM:300882 HPO:skoehler 06.10.2014
+OMIM:300882 #300882 CORNELIA DE LANGE SYNDROME 5; CDLS5 HP:0000545 Myopia IEA IEA OMIM-CS:HEAD AND NECK_EYES > MYOPIA OMIM:300882 HPO:skoehler 06.10.2014
+OMIM:300882 #300882 CORNELIA DE LANGE SYNDROME 5; CDLS5 HP:0000506 Telecanthus IEA IEA OMIM-CS:HEAD AND NECK_EYES > TELECANTHUS OMIM:300882 HPO:skoehler 06.10.2014
+OMIM:300882 #300882 CORNELIA DE LANGE SYNDROME 5; CDLS5 HP:0000278 Retrognathia IEA IEA OMIM-CS:HEAD AND NECK_FACE > RETROGNATHIA OMIM:300882 HPO:skoehler 06.10.2014
+OMIM:300882 #300882 CORNELIA DE LANGE SYNDROME 5; CDLS5 HP:0000175 Cleft palate IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > CLEFT PALATE OMIM:300882 HPO:skoehler 06.10.2014
+OMIM:300882 #300882 CORNELIA DE LANGE SYNDROME 5; CDLS5 HP:0000470 Short neck IEA IEA OMIM-CS:HEAD AND NECK_NECK > SHORT NECK OMIM:300882 HPO:skoehler 06.10.2014
+OMIM:300882 #300882 CORNELIA DE LANGE SYNDROME 5; CDLS5 HP:0000455 Broad nasal tip IEA IEA OMIM-CS:HEAD AND NECK_NOSE > BROAD NASAL TIP OMIM:300882 HPO:skoehler 06.10.2014
+OMIM:300882 #300882 CORNELIA DE LANGE SYNDROME 5; CDLS5 HP:0005280 Depressed nasal bridge IEA IEA OMIM-CS:HEAD AND NECK_NOSE > DEPRESSED NASAL BRIDGE OMIM:300882 HPO:skoehler 06.10.2014
+OMIM:300882 #300882 CORNELIA DE LANGE SYNDROME 5; CDLS5 HP:0000687 Widely spaced teeth IEA IEA OMIM-CS:HEAD AND NECK_TEETH > WIDELY SPACED TEETH OMIM:300882 HPO:skoehler 06.10.2014
+OMIM:300882 #300882 CORNELIA DE LANGE SYNDROME 5; CDLS5 HP:0000708 Behavioral abnormality IEA IEA OMIM-CS:NEUROLOGIC_BEHAVIORAL/PSYCHIATRIC MANIFESTATIONS > BEHAVIORAL DISORDERS OMIM:300882 HPO:skoehler 06.10.2014
+OMIM:300882 #300882 CORNELIA DE LANGE SYNDROME 5; CDLS5 HP:0001249 Intellectual disability IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTELLECTUAL DISABILITY OMIM:300882 HPO:skoehler 06.10.2014
+OMIM:300882 #300882 CORNELIA DE LANGE SYNDROME 5; CDLS5 HP:0001770 Toe syndactyly IEA IEA OMIM-CS:SKELETAL_FEET > TOE SYNDACTYLY OMIM:300882 HPO:skoehler 06.10.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600001.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600001.tab 2014-10-06 13:04:42 UTC (rev 5210)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600001.tab 2014-10-06 14:25:28 UTC (rev 5211)
@@ -25,3 +25,6 @@
OMIM:600001 #600001 PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS; PACHD;;PANCREATIC HYPOPLASIA, CONGENITAL, WITH DIABETES MELLITUS AND CONGENITALHEART DISEASE HP:0000252 Microcephaly IEA IEA rare OMIM-CS:HEAD AND NECK_HEAD > MICROCEPHALY (IN SOME PATIENTS) OMIM:600001 HPO:skoehler 18.11.2012
OMIM:600001 #600001 PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS; PACHD;;PANCREATIC HYPOPLASIA, CONGENITAL, WITH DIABETES MELLITUS AND CONGENITALHEART DISEASE HP:0001250 Seizures IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES (IN SOME PATIENTS) OMIM:600001 HPO:skoehler 18.11.2012
OMIM:600001 #600001 PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS; PACHD;;PANCREATIC HYPOPLASIA, CONGENITAL, WITH DIABETES MELLITUS AND CONGENITALHEART DISEASE HP:0011682 Perimembranous ventricular septal defect IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > VENTRICULAR SEPTAL DEFECT, PERIMEMBRANOUS OMIM:600001 HPO:skoehler 31.05.2013
+OMIM:600001 #600001 HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES; HDCA;;PANCREATIC HYPOPLASIA, CONGENITAL, WITH DIABETES MELLITUS AND CONGENITALHEART DISEASE;;PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS; PACHD HP:0000776 Congenital diaphragmatic hernia IEA IEA rare OMIM-CS:CHEST_DIAPHRAGM > DIAPHRAGMATIC HERNIA (IN SOME PATIENTS) OMIM:600001 HPO:skoehler 06.10.2014
+OMIM:600001 #600001 HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES; HDCA;;PANCREATIC HYPOPLASIA, CONGENITAL, WITH DIABETES MELLITUS AND CONGENITALHEART DISEASE;;PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS; PACHD HP:0000073 Ureteral duplication IEA IEA rare OMIM-CS:GENITOURINARY_URETERS > URETERAL DUPLICATION (RARE) OMIM:600001 HPO:skoehler 06.10.2014
+OMIM:600001 #600001 HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES; HDCA;;PANCREATIC HYPOPLASIA, CONGENITAL, WITH DIABETES MELLITUS AND CONGENITALHEART DISEASE;;PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS; PACHD HP:0001195 Single umbilical artery IEA IEA rare OMIM-CS:PRENATAL MANIFESTATIONS_PLACENTA AND UMBILICAL CORD > SINGLE UMBILICAL ARTERY (RARE) OMIM:600001 HPO:skoehler 06.10.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603671.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603671.tab 2014-10-06 13:04:42 UTC (rev 5210)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603671.tab 2014-10-06 14:25:28 UTC (rev 5211)
@@ -17,3 +17,15 @@
OMIM:603671 %603671 ACROMELIC FRONTONASAL DYSOSTOSIS;;AFND HP:0011803 Bifid nose IEA IEA OMIM-CS:HEAD AND NECK_NOSE > BIFID NOSE OMIM:603671 HPO:skoehler 17.10.2012
OMIM:603671 %603671 ACROMELIC FRONTONASAL DYSOSTOSIS;;AFND HP:0100258 Preaxial polydactyly IEA IEA OMIM-CS:SKELETAL_FEET > PREAXIAL POLYDACTYLY OMIM:603671 HPO:skoehler 17.10.2012
OMIM:603671 %603671 ACROMELIC FRONTONASAL DYSOSTOSIS;;AFND HP:0100258 Preaxial polydactyly IEA IEA OMIM-CS:SKELETAL_HANDS > PREAXIAL POLYDACTYLY OMIM:603671 HPO:skoehler 17.10.2012
+OMIM:603671 #603671 ACROMELIC FRONTONASAL DYSOSTOSIS; AFND HP:0000028 Cryptorchidism IEA IEA rare OMIM-CS:GENITOURINARY_INTERNAL GENITALIA, MALE > CRYPTORCHIDISM (IN SOME PATIENTS) OMIM:603671 HPO:skoehler 06.10.2014
+OMIM:603671 #603671 ACROMELIC FRONTONASAL DYSOSTOSIS; AFND HP:0000501 Glaucoma IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > GLAUCOMA (RARE) OMIM:603671 HPO:skoehler 06.10.2014
+OMIM:603671 #603671 ACROMELIC FRONTONASAL DYSOSTOSIS; AFND HP:0000545 Myopia IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > MYOPIA (IN SOME PATIENTS) OMIM:603671 HPO:skoehler 06.10.2014
+OMIM:603671 #603671 ACROMELIC FRONTONASAL DYSOSTOSIS; AFND HP:0000508 Ptosis IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > PTOSIS (IN SOME PATIENTS) OMIM:603671 HPO:skoehler 06.10.2014
+OMIM:603671 #603671 ACROMELIC FRONTONASAL DYSOSTOSIS; AFND HP:0000506 Telecanthus IEA IEA OMIM-CS:HEAD AND NECK_EYES > TELECANTHUS OMIM:603671 HPO:skoehler 06.10.2014
+OMIM:603671 #603671 ACROMELIC FRONTONASAL DYSOSTOSIS; AFND HP:0010806 U-Shaped upper lip vermilion IEA IEA rare OMIM-CS:HEAD AND NECK_MOUTH > CARP-SHAPED MOUTH (IN SOME PATIENTS) OMIM:603671 HPO:skoehler 06.10.2014
+OMIM:603671 #603671 ACROMELIC FRONTONASAL DYSOSTOSIS; AFND HP:0002190 Choroid plexus cyst IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CHOROID PLEXUS CYST OMIM:603671 HPO:skoehler 06.10.2014
+OMIM:603671 #603671 ACROMELIC FRONTONASAL DYSOSTOSIS; AFND HP:0002690 Large sella turcica IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ENLARGED SELLA TURCICA OMIM:603671 HPO:skoehler 06.10.2014
+OMIM:603671 #603671 ACROMELIC FRONTONASAL DYSOSTOSIS; AFND HP:0002079 Hypoplasia of the corpus callosum IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPOPLASIA OF CORPUS CALLOSUM OMIM:603671 HPO:skoehler 06.10.2014
+OMIM:603671 #603671 ACROMELIC FRONTONASAL DYSOSTOSIS; AFND HP:0006951 Retrocerebellar cyst IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > RETROCEREBELLAR CYST OMIM:603671 HPO:skoehler 06.10.2014
+OMIM:603671 #603671 ACROMELIC FRONTONASAL DYSOSTOSIS; AFND HP:0001250 Seizures IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES OMIM:603671 HPO:skoehler 06.10.2014
+OMIM:603671 #603671 ACROMELIC FRONTONASAL DYSOSTOSIS; AFND HP:0010559 Vertical clivus IEA IEA rare OMIM-CS:SKELETAL_SKULL > VERTICAL CLIVUS (IN SOME PATIENTS) OMIM:603671 HPO:skoehler 06.10.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606056.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606056.tab 2014-10-06 13:04:42 UTC (rev 5210)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606056.tab 2014-10-06 14:25:28 UTC (rev 5211)
@@ -16,3 +16,10 @@
OMIM:606056 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB HP:0008872 Feeding difficulties in infancy IEA IEA OMIM:606056 HPO 17.02.2009
OMIM:606056 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB HP:0010557 Overlapping fingers IEA IEA OMIM:606056 HPO:skoehler 18.06.2010
OMIM:606056 #606056 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb; CDG2B;;CDG IIb; CDGIIb;;GLUCOSIDASE I DEFICIENCY HP:0012745 Short palpebral fissure IEA IEA OMIM-CS:HEAD AND NECK_EYES > SHORT PALPEBRAL FISSURES OMIM:606056 HPO:skoehler 24.03.2014
+OMIM:606056 #606056 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb; CDG2B;;CDG IIb; CDGIIb;;GLUCOSIDASE I DEFICIENCY HP:0000407 Sensorineural hearing impairment IEA IEA OMIM-CS:HEAD AND NECK_EARS > HEARING LOSS, SENSORINEURAL OMIM:606056 HPO:skoehler 06.10.2014
+OMIM:606056 #606056 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb; CDG2B;;CDG IIb; CDGIIb;;GLUCOSIDASE I DEFICIENCY HP:0000648 Optic atrophy IEA IEA OMIM-CS:HEAD AND NECK_EYES > OPTIC NERVE ATROPHY OMIM:606056 HPO:skoehler 06.10.2014
+OMIM:606056 #606056 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb; CDG2B;;CDG IIb; CDGIIb;;GLUCOSIDASE I DEFICIENCY HP:0004313 Hypogammaglobulinemia IEA IEA OMIM-CS:LABORATORY ABNORMALITIES > HYPOGAMMAGLOBULINEMIA OMIM:606056 HPO:skoehler 06.10.2014
+OMIM:606056 #606056 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb; CDG2B;;CDG IIb; CDGIIb;;GLUCOSIDASE I DEFICIENCY HP:0002059 Cerebral atrophy IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBRAL ATROPHY OMIM:606056 HPO:skoehler 06.10.2014
+OMIM:606056 #606056 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb; CDG2B;;CDG IIb; CDGIIb;;GLUCOSIDASE I DEFICIENCY HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT OMIM:606056 HPO:skoehler 06.10.2014
+OMIM:606056 #606056 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb; CDG2B;;CDG IIb; CDGIIb;;GLUCOSIDASE I DEFICIENCY HP:0002079 Hypoplasia of the corpus callosum IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SMALL CORPUS CALLOSUM OMIM:606056 HPO:skoehler 06.10.2014
+OMIM:606056 #606056 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb; CDG2B;;CDG IIb; CDGIIb;;GLUCOSIDASE I DEFICIENCY HP:0002757 Recurrent fractures IEA IEA OMIM-CS:SKELETAL > RECURRENT FRACTURES OMIM:606056 HPO:skoehler 06.10.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606408.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606408.tab 2014-10-06 13:04:42 UTC (rev 5210)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606408.tab 2014-10-06 14:25:28 UTC (rev 5211)
@@ -12,3 +12,7 @@
OMIM:606408 #606408 EHLERS-DANLOS-LIKE SYNDROME DUE TO TENASCIN-X DEFICIENCY;;EDS DUE TO TNX DEFICIENCY;;TNX DEFICIENCY HP:0000813 Bicornuate uterus IEA IEA OMIM-CS:GENITOURINARY_INTERNAL GENITALIA, FEMALE > BICORNUATE UTERUS (SEEN IN PATIENTS WITH CONTIGUOUS GENE DEFECT) OMIM:606408 HPO:skoehler Nov 21, 2012
OMIM:606408 #606408 EHLERS-DANLOS-LIKE SYNDROME DUE TO TENASCIN-X DEFICIENCY;;EDS DUE TO TNX DEFICIENCY;;TNX DEFICIENCY HP:0100699 Scarring IEA IEA NOT NOT OMIM-CS:SKIN, NAILS, HAIR_SKIN > NO SCARRING OMIM:606408 HPO:skoehler Nov 21, 2012
OMIM:606408 #606408 EHLERS-DANLOS-LIKE SYNDROME DUE TO TENASCIN-X DEFICIENCY;;EDS DUE TO TNX DEFICIENCY;;TNX DEFICIENCY HP:0100699 Scarring IEA IEA NOT NOT OMIM-CS:SKIN, NAILS, HAIR_SKIN > NO SCARRING OMIM:606408 HPO:skoehler 30.05.2013
+OMIM:606408 #606408 EHLERS-DANLOS-LIKE SYNDROME DUE TO TENASCIN-X DEFICIENCY;;EDS DUE TO TNX DEFICIENCY;;TNX DEFICIENCY HP:0009025 Increased connective tissue IEA IEA rare OMIM-CS:MUSCLE, SOFT TISSUE > INCREASED CONNECTIVE TISSUE (IN SOME PATIENTS) OMIM:606408 HPO:skoehler 06.10.2014
+OMIM:606408 #606408 EHLERS-DANLOS-LIKE SYNDROME DUE TO TENASCIN-X DEFICIENCY;;EDS DUE TO TNX DEFICIENCY;;TNX DEFICIENCY HP:0003555 Muscle fiber splitting IEA IEA rare OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE FIBER SPLITTING (IN SOME PATIENTS) OMIM:606408 HPO:skoehler 06.10.2014
+OMIM:606408 #606408 EHLERS-DANLOS-LIKE SYNDROME DUE TO TENASCIN-X DEFICIENCY;;EDS DUE TO TNX DEFICIENCY;;TNX DEFICIENCY HP:0007126 Proximal amyotrophy IEA IEA rare OMIM-CS:MUSCLE, SOFT TISSUE > PROXIMAL MUSCLE ATROPHY (IN SOME PATIENTS) OMIM:606408 HPO:skoehler 06.10.2014
+OMIM:606408 #606408 EHLERS-DANLOS-LIKE SYNDROME DUE TO TENASCIN-X DEFICIENCY;;EDS DUE TO TNX DEFICIENCY;;TNX DEFICIENCY HP:0003701 Proximal muscle weakness IEA IEA rare OMIM-CS:MUSCLE, SOFT TISSUE > PROXIMAL MUSCLE WEAKNESS (IN SOME PATIENTS) OMIM:606408 HPO:skoehler 06.10.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610505.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610505.tab 2014-10-06 13:04:42 UTC (rev 5210)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610505.tab 2014-10-06 14:25:28 UTC (rev 5211)
@@ -24,3 +24,11 @@
OMIM:610505 #610505 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3; COXPD3;;ENCEPHALOMYOPATHY, RESPIRATORY FAILURE, AND LACTIC ACIDOSIS;;CONCENTRIC CARDIOMYOPATHY, HYPOTONIA, AND LACTIC ACIDOSIS HP:0001511 Intrauterine growth retardation IEA IEA OMIM-CS:GROWTH_OTHER > INTRAUTERINE GROWTH RETARDATION OMIM:610505 HPO:skoehler 21.01.2013
OMIM:610505 #610505 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3; COXPD3;;ENCEPHALOMYOPATHY, RESPIRATORY FAILURE, AND LACTIC ACIDOSIS;;CONCENTRIC CARDIOMYOPATHY, HYPOTONIA, AND LACTIC ACIDOSIS HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > GLOBAL DEVELOPMENTAL DELAY OMIM:610505 HPO:skoehler 21.01.2013
OMIM:610505 #610505 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3; COXPD3;;ENCEPHALOMYOPATHY, RESPIRATORY FAILURE, AND LACTIC ACIDOSIS;;CONCENTRIC CARDIOMYOPATHY, HYPOTONIA, AND LACTIC ACIDOSIS HP:0002878 Respiratory failure IEA IEA OMIM-CS:RESPIRATORY > RESPIRATORY FAILURE OMIM:610505 HPO:skoehler 24.06.2014
+OMIM:610505 #610505 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3; COXPD3;;ENCEPHALOMYOPATHY, RESPIRATORY FAILURE, AND LACTIC ACIDOSIS;;CONCENTRIC CARDIOMYOPATHY, HYPOTONIA, AND LACTIC ACIDOSIS HP:0001644 Dilated cardiomyopathy IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > DILATED CARDIOMYOPATHY (IN SOME PATIENTS) OMIM:610505 HPO:skoehler 06.10.2014
+OMIM:610505 #610505 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3; COXPD3;;ENCEPHALOMYOPATHY, RESPIRATORY FAILURE, AND LACTIC ACIDOSIS;;CONCENTRIC CARDIOMYOPATHY, HYPOTONIA, AND LACTIC ACIDOSIS HP:0000648 Optic atrophy IEA IEA OMIM-CS:HEAD AND NECK_EYES > OPTIC ATROPHY OMIM:610505 HPO:skoehler 06.10.2014
+OMIM:610505 #610505 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3; COXPD3;;ENCEPHALOMYOPATHY, RESPIRATORY FAILURE, AND LACTIC ACIDOSIS;;CONCENTRIC CARDIOMYOPATHY, HYPOTONIA, AND LACTIC ACIDOSIS HP:0001138 Optic neuropathy IEA IEA OMIM-CS:HEAD AND NECK_EYES > OPTIC NEUROPATHY OMIM:610505 HPO:skoehler 06.10.2014
+OMIM:610505 #610505 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3; COXPD3;;ENCEPHALOMYOPATHY, RESPIRATORY FAILURE, AND LACTIC ACIDOSIS;;CONCENTRIC CARDIOMYOPATHY, HYPOTONIA, AND LACTIC ACIDOSIS HP:0000505 Visual impairment IEA IEA OMIM-CS:HEAD AND NECK_EYES > VISUAL IMPAIRMENT OMIM:610505 HPO:skoehler 06.10.2014
+OMIM:610505 #610505 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3; COXPD3;;ENCEPHALOMYOPATHY, RESPIRATORY FAILURE, AND LACTIC ACIDOSIS;;CONCENTRIC CARDIOMYOPATHY, HYPOTONIA, AND LACTIC ACIDOSIS HP:0001251 Ataxia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ATAXIA OMIM:610505 HPO:skoehler 06.10.2014
+OMIM:610505 #610505 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3; COXPD3;;ENCEPHALOMYOPATHY, RESPIRATORY FAILURE, AND LACTIC ACIDOSIS;;CONCENTRIC CARDIOMYOPATHY, HYPOTONIA, AND LACTIC ACIDOSIS HP:0100543 Cognitive impairment IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > COGNITIVE IMPAIRMENT OMIM:610505 HPO:skoehler 06.10.2014
+OMIM:610505 #610505 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3; COXPD3;;ENCEPHALOMYOPATHY, RESPIRATORY FAILURE, AND LACTIC ACIDOSIS;;CONCENTRIC CARDIOMYOPATHY, HYPOTONIA, AND LACTIC ACIDOSIS HP:0001332 Dystonia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DYSTONIA OMIM:610505 HPO:skoehler 06.10.2014
+OMIM:610505 #610505 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3; COXPD3;;ENCEPHALOMYOPATHY, RESPIRATORY FAILURE, AND LACTIC ACIDOSIS;;CONCENTRIC CARDIOMYOPATHY, HYPOTONIA, AND LACTIC ACIDOSIS HP:0001337 Tremor IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > TREMOR OMIM:610505 HPO:skoehler 06.10.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611228.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611228.tab 2014-10-06 13:04:42 UTC (rev 5210)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611228.tab 2014-10-06 14:25:28 UTC (rev 5211)
@@ -6,3 +6,10 @@
OMIM:611228 #611228 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J;;CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J FIG4 HP:0005684 Distal arthrogryposis PCS PCS pmid:17572665 HPO:probinson Apr 1, 2013
OMIM:611228 #611228 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J;;CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J FIG4 HP:0002460 Distal muscle weakness PCS PCS pmid:17572665 HPO:probinson Apr 1, 2013
OMIM:611228 #611228 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J;;CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J FIG4 HP:0001265 Hyporeflexia PCS PCS pmid:17572665 HPO:probinson Apr 1, 2013
+OMIM:611228 #611228 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J;;CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J HP:0001270 Motor delay IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED MOTOR DEVELOPMENT (IN SOME PATIENTS) OMIM:611228 HPO:skoehler 06.10.2014
+OMIM:611228 #611228 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J;;CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J HP:0001284 Areflexia IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > AREFLEXIA OMIM:611228 HPO:skoehler 06.10.2014
+OMIM:611228 #611228 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J;;CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J HP:0002936 Distal sensory impairment IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > DISTAL SENSORY IMPAIRMENT OMIM:611228 HPO:skoehler 06.10.2014
+OMIM:611228 #611228 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J;;CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J HP:0002359 Frequent falls IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > FREQUENT FALLS OMIM:611228 HPO:skoehler 06.10.2014
+OMIM:611228 #611228 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J;;CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J HP:0001288 Gait disturbance IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > GAIT DIFFICULTIES OMIM:611228 HPO:skoehler 06.10.2014
+OMIM:611228 #611228 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J;;CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J HP:0003383 Onion bulb formation IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > ONION BULB FORMATION OMIM:611228 HPO:skoehler 06.10.2014
+OMIM:611228 #611228 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J;;CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J HP:0006466 Ankle contracture IEA IEA OMIM-CS:SKELETAL_LIMBS > ANKLE CONTRACTURES OMIM:611228 HPO:skoehler 06.10.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611521.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611521.tab 2014-10-06 13:04:42 UTC (rev 5210)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611521.tab 2014-10-06 14:25:28 UTC (rev 5211)
@@ -4,3 +4,5 @@
OMIM:611521 #611521 TYROSINE KINASE 2 DEFICIENCY;;TYK2 DEFICIENCY;;HYPER-IgE SYNDROME WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE;;HIES WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE TYK2 HP:0004429 Recurrent viral infections PCS PCS pmid:17088085 HPO:probinson Apr 6, 2013
OMIM:611521 #611521 TYROSINE KINASE 2 DEFICIENCY;;TYK2 DEFICIENCY;;HYPER-IgE SYNDROME WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE;;HIES WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE TYK2 HP:0002841 Recurrent fungal infections PCS PCS pmid:17088085 HPO:probinson Apr 6, 2013
OMIM:611521 #611521 TYROSINE KINASE 2 DEFICIENCY;;TYK2 DEFICIENCY;;HYPER-IgE SYNDROME WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE;;HIES WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE TYK2 HP:0011274 Recurrent mycobacterial infections PCS PCS pmid:17088085 HPO:probinson Apr 6, 2013
+OMIM:611521 #611521 IMMUNODEFICIENCY 35; IMD35;;TYROSINE KINASE 2 DEFICIENCY;;TYK2 DEFICIENCY;;HYPER-IgE SYNDROME WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE;;HIES WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE HP:0002721 Immunodeficiency IEA IEA OMIM-CS:IMMUNOLOGY > IMMUNODEFICIENCY OMIM:611521 HPO:skoehler 06.10.2014
+OMIM:611521 #611521 IMMUNODEFICIENCY 35; IMD35;;TYROSINE KINASE 2 DEFICIENCY;;TYK2 DEFICIENCY;;HYPER-IgE SYNDROME WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE;;HIES WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE HP:0002205 Recurrent respiratory infections IEA IEA OMIM-CS:RESPIRATORY > RECURRENT RESPIRATORY INFECTIONS OMIM:611521 HPO:skoehler 06.10.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612164.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612164.tab 2014-10-06 13:04:42 UTC (rev 5210)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612164.tab 2014-10-06 14:25:28 UTC (rev 5211)
@@ -18,3 +18,6 @@
MIM:612164 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4 HP:0007105 Infantile encephalopathy PCS PCS MIM:612164 HPO:probinson 11.04.2012
OMIM:612164 #612164 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4 HP:0010864 Intellectual disability, severe IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, SEVERE OMIM:612164 HPO:skoehler 17.10.2012
OMIM:612164 #612164 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4 HP:0001337 Tremor IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > TREMOR OMIM:612164 HPO:skoehler 03.05.2013
+OMIM:612164 #612164 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4 HP:0002376 Developmental regression IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DEVELOPMENTAL REGRESSION OMIM:612164 HPO:skoehler 06.10.2014
+OMIM:612164 #612164 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4 HP:0200134 Epileptic encephalopathy IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > EPILEPTIC ENCEPHALOPATHY OMIM:612164 HPO:skoehler 06.10.2014
+OMIM:612164 #612164 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4 HP:0002133 Status epilepticus IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > STATUS EPILEPTICUS OMIM:612164 HPO:skoehler 06.10.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612240.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612240.tab 2014-10-06 13:04:42 UTC (rev 5210)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612240.tab 2014-10-06 14:25:28 UTC (rev 5211)
@@ -2,3 +2,5 @@
OMIM:612240 #612240 ATRIAL FIBRILLATION, FAMILIAL, 7; ATFB7 KCNA5 HP:0004757 Paroxysmal atrial fibrillation PCS PCS pmid:16772329 HPO:probinson Jan 9, 2013
OMIM:612240 #612240 ATRIAL FIBRILLATION, FAMILIAL, 7; ATFB7 KCNA5 HP:0000006 Autosomal dominant inheritance PCS PCS pmid:16772329 HPO:probinson Apr 4, 2013
OMIM:612240 #612240 ATRIAL FIBRILLATION, FAMILIAL, 7; ATFB7 KCNA5 HP:0001962 Palpitations PCS PCS pmid:16772329 HPO:probinson Apr 4, 2013
+OMIM:612240 #612240 ATRIAL FIBRILLATION, FAMILIAL, 7; ATFB7 HP:0012248 Prolonged PR interval IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > PROLONGED PR INTERVAL (IN SOME PATIENTS) OMIM:612240 HPO:skoehler 06.10.2014
+OMIM:612240 #612240 ATRIAL FIBRILLATION, FAMILIAL, 7; ATFB7 HP:0005184 Prolonged QTc interval IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > PROLONGED QTC INTERVAL (IN SOME PATIENTS) OMIM:612240 HPO:skoehler 06.10.2014
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612691.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612691.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612691.tab 2014-10-06 14:25:28 UTC (rev 5211)
@@ -0,0 +1,7 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:612691 #612691 POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL; BTOP HP:0000718 Aggressive behavior IEA IEA OMIM-CS:NEUROLOGIC_BEHAVIORAL/PSYCHIATRIC MANIFESTATIONS > AGGRESSIVE BEHAVIOR OMIM:612691 HPO:skoehler 06.10.2014
+OMIM:612691 #612691 POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL; BTOP HP:0002384 Focal seizures with impairment of consciousness or awareness IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > COMPLEX FOCAL SEIZURES OMIM:612691 HPO:skoehler 06.10.2014
+OMIM:612691 #612691 POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL; BTOP HP:0002119 Ventriculomegaly IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ENLARGED VENTRICLES OMIM:612691 HPO:skoehler 06.10.2014
+OMIM:612691 #612691 POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL; BTOP HP:0001250 Seizures IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES OMIM:612691 HPO:skoehler 06.10.2014
+OMIM:612691 #612691 POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL; BTOP HP:0002133 Status epilepticus IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > STATUS EPILEPTICUS OMIM:612691 HPO:skoehler 06.10.2014
+OMIM:612691 #612691 POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL; BTOP HP:0002367 Visual hallucinations IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > VISUAL HALLUCINATIONS OMIM:612691 HPO:skoehler 06.10.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612691.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612989.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612989.tab 2014-10-06 13:04:42 UTC (rev 5210)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612989.tab 2014-10-06 14:25:28 UTC (rev 5211)
@@ -3,3 +3,9 @@
OMIM:612989 #612989 OPTIC ATROPHY 7; OPA7 TMEM126A HP:0000505 Visual impairment HP:0011463 Childhood onset PCS PCS pmid:19327736 HPO:skoehler Feb 23, 2013
OMIM:612989 #612989 OPTIC ATROPHY 7; OPA7 TMEM126A HP:0000543 Optic disc pallor PCS PCS pmid:19327736 HPO:skoehler Feb 23, 2013
OMIM:612989 #612989 OPTIC ATROPHY 7; OPA7 TMEM126A HP:0000603 Central scotoma HP:0011463 Childhood onset PCS PCS pmid:19327736 HPO:skoehler Feb 23, 2013
+OMIM:612989 #612989 OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY; OPA7 HP:0001639 Hypertrophic cardiomyopathy IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > CARDIOMYOPATHY, HYPERTROPHIC (RARE) OMIM:612989 HPO:skoehler 06.10.2014
+OMIM:612989 #612989 OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY; OPA7 HP:0007641 Dyschromatopsia IEA IEA OMIM-CS:HEAD AND NECK_EYES > DYSCHROMATOPSIA OMIM:612989 HPO:skoehler 06.10.2014
+OMIM:612989 #612989 OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY; OPA7 HP:0000666 Horizontal nystagmus IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > HORIZONTAL NYSTAGMUS (IN SOME PATIENTS) OMIM:612989 HPO:skoehler 06.10.2014
+OMIM:612989 #612989 OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY; OPA7 HP:0000648 Optic atrophy IEA IEA OMIM-CS:HEAD AND NECK_EYES > OPTIC ATROPHY OMIM:612989 HPO:skoehler 06.10.2014
+OMIM:612989 #612989 OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY; OPA7 HP:0000486 Strabismus IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > STRABISMUS (IN SOME PATIENTS) OMIM:612989 HPO:skoehler 06.10.2014
+OMIM:612989 #612989 OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY; OPA7 HP:0001133 Constricted visual fields IEA IEA OMIM-CS:HEAD AND NECK_EYES > VISUAL FIELD CONSTRICTION OMIM:612989 HPO:skoehler 06.10.2014
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613451.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613451.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613451.tab 2014-10-06 14:25:28 UTC (rev 5211)
@@ -0,0 +1,14 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:613451 #613451 FRONTONASAL DYSPLASIA 2; FND2 HP:0000316 Hypertelorism IEA IEA OMIM-CS:HEAD AND NECK_EYES > HYPERTELORISM OMIM:613451 HPO:skoehler 06.10.2014
+OMIM:613451 #613451 FRONTONASAL DYSPLASIA 2; FND2 HP:0000582 Upslanted palpebral fissure IEA IEA OMIM-CS:HEAD AND NECK_EYES > UPSLANTING PALPEBRAL FISSURES OMIM:613451 HPO:skoehler 06.10.2014
+OMIM:613451 #613451 FRONTONASAL DYSPLASIA 2; FND2 HP:0000456 Bifid nasal tip IEA IEA OMIM-CS:HEAD AND NECK_NOSE > BIFID NASAL TIP OMIM:613451 HPO:skoehler 06.10.2014
+OMIM:613451 #613451 FRONTONASAL DYSPLASIA 2; FND2 HP:0005280 Depressed nasal bridge IEA IEA OMIM-CS:HEAD AND NECK_NOSE > DEPRESSED NASAL BRIDGE OMIM:613451 HPO:skoehler 06.10.2014
+OMIM:613451 #613451 FRONTONASAL DYSPLASIA 2; FND2 HP:0000457 Depressed nasal ridge IEA IEA OMIM-CS:HEAD AND NECK_NOSE > DEPRESSED NASAL RIDGE OMIM:613451 HPO:skoehler 06.10.2014
+OMIM:613451 #613451 FRONTONASAL DYSPLASIA 2; FND2 HP:0000431 Wide nasal bridge IEA IEA OMIM-CS:HEAD AND NECK_NOSE > WIDE NASAL BRIDGE OMIM:613451 HPO:skoehler 06.10.2014
+OMIM:613451 #613451 FRONTONASAL DYSPLASIA 2; FND2 HP:0001320 Cerebellar vermis hypoplasia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR VERMIS HYPOPLASIA OMIM:613451 HPO:skoehler 06.10.2014
+OMIM:613451 #613451 FRONTONASAL DYSPLASIA 2; FND2 HP:0002079 Hypoplasia of the corpus callosum IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPOPLASIA OF THE CORPUS CALLOSUM OMIM:613451 HPO:skoehler 06.10.2014
+OMIM:613451 #613451 FRONTONASAL DYSPLASIA 2; FND2 HP:0001249 Intellectual disability IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTELLECTUAL DISABILITY (IN SOME PATIENTS) OMIM:613451 HPO:skoehler 06.10.2014
+OMIM:613451 #613451 FRONTONASAL DYSPLASIA 2; FND2 HP:0001363 Craniosynostosis IEA IEA OMIM-CS:SKELETAL_SKULL > CRANIOSYNOSTOSIS OMIM:613451 HPO:skoehler 06.10.2014
+OMIM:613451 #613451 FRONTONASAL DYSPLASIA 2; FND2 HP:0002084 Encephalocele IEA IEA OMIM-CS:SKELETAL_SKULL > CRANIUM BIFIDUM OMIM:613451 HPO:skoehler 06.10.2014
+OMIM:613451 #613451 FRONTONASAL DYSPLASIA 2; FND2 HP:0002697 Parietal foramina IEA IEA OMIM-CS:SKELETAL_SKULL > PARIETAL FORAMINA OMIM:613451 HPO:skoehler 06.10.2014
+OMIM:613451 #613451 FRONTONASAL DYSPLASIA 2; FND2 HP:0001596 Alopecia IEA IEA rare OMIM-CS:SKIN, NAILS, HAIR_HAIR > ALOPECIA (IN SOME PATIENTS) OMIM:613451 HPO:skoehler 06.10.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613451.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613680.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613680.tab 2014-10-06 13:04:42 UTC (rev 5210)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613680.tab 2014-10-06 14:25:28 UTC (rev 5211)
@@ -17,3 +17,4 @@
OMIM:613680 #613680 BEAULIEU-BOYCOTT-INNES SYNDROME; BBIS;;MICROCEPHALY, MENTAL RETARDATION, AND DISTINCTIVE FACIES, WITH CARDIACAND GENITOURINARY MALFORMATIONS HP:0012745 Short palpebral fissure IEA IEA OMIM-CS:HEAD AND NECK_EYES > SHORT PALPEBRAL FISSURES OMIM:613680 HPO:skoehler 24.03.2014
OMIM:613680 #613680 BEAULIEU-BOYCOTT-INNES SYNDROME; BBIS;;MICROCEPHALY, MENTAL RETARDATION, AND DISTINCTIVE FACIES, WITH CARDIACAND GENITOURINARY MALFORMATIONS HP:0009765 Low hanging columella IEA IEA OMIM-CS:HEAD AND NECK_NOSE > LOW-HANGING COLUMELLA OMIM:613680 HPO:skoehler 24.03.2014
OMIM:613680 #613680 BEAULIEU-BOYCOTT-INNES SYNDROME; BBIS;;MICROCEPHALY, MENTAL RETARDATION, AND DISTINCTIVE FACIES, WITH CARDIACAND GENITOURINARY MALFORMATIONS HP:0030013 Endometriosis IEA IEA OMIM-CS:GENITOURINARY_INTERNAL GENITALIA, FEMALE > ENDOMETRIOSIS OMIM:613680 HPO:skoehler 21.09.2014
+OMIM:613680 #613680 BEAULIEU-BOYCOTT-INNES SYNDROME; BBIS;;MICROCEPHALY, MENTAL RETARDATION, AND DISTINCTIVE FACIES, WITH CARDIACAND GENITOURINARY MALFORMATIONS HP:0030127 Endometriosis IEA IEA OMIM-CS:GENITOURINARY_INTERNAL GENITALIA, FEMALE > ENDOMETRIOSIS OMIM:613680 HPO:skoehler 06.10.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615035.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615035.tab 2014-10-06 13:04:42 UTC (rev 5210)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615035.tab 2014-10-06 14:25:28 UTC (rev 5211)
@@ -18,3 +18,5 @@
OMIM:615035 #615035 SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE; SPG55 HP:0100543 Cognitive impairment IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTELLECTUAL IMPAIRMENT OMIM:615035 HPO:skoehler 28.01.2014
OMIM:615035 #615035 SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE; SPG55 HP:0001249 Intellectual disability IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION (IN SOME PATIENTS) OMIM:615035 HPO:skoehler 28.01.2014
OMIM:615035 #615035 SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE; SPG55 HP:0003477 Peripheral axonal neuropathy IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > AXONAL NEUROPATHY OMIM:615035 HPO:skoehler 28.01.2014
+OMIM:615035 #615035 SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE; SPG55 HP:0000639 Nystagmus IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > NYSTAGMUS (IN SOME PATIENTS) OMIM:615035 HPO:skoehler 06.10.2014
+OMIM:615035 #615035 SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE; SPG55 HP:0002079 Hypoplasia of the corpus callosum IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPOPLASTIC CORPUS CALLOSUM (IN SOME PATIENTS) OMIM:615035 HPO:skoehler 06.10.2014
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615744.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615744.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615744.tab 2014-10-06 14:25:28 UTC (rev 5211)
@@ -0,0 +1,9 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:615744 #615744 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19; EIEE19 HP:0002121 Absence seizures IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ABSENCE SEIZURES OMIM:615744 HPO:skoehler 06.10.2014
+OMIM:615744 #615744 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19; EIEE19 HP:0010819 Atonic seizures IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ATONIC SEIZURES OMIM:615744 HPO:skoehler 06.10.2014
+OMIM:615744 #615744 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19; EIEE19 HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT OMIM:615744 HPO:skoehler 06.10.2014
+OMIM:615744 #615744 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19; EIEE19 HP:0200134 Epileptic encephalopathy IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > EPILEPTIC ENCEPHALOPATHY OMIM:615744 HPO:skoehler 06.10.2014
+OMIM:615744 #615744 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19; EIEE19 HP:0002373 Febrile seizures IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > FEBRILE SEIZURES OMIM:615744 HPO:skoehler 06.10.2014
+OMIM:615744 #615744 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19; EIEE19 HP:0006813 Hemiclonic seizures IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HEMICLONIC SEIZURES OMIM:615744 HPO:skoehler 06.10.2014
+OMIM:615744 #615744 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19; EIEE19 HP:0001249 Intellectual disability IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTELLECTUAL DISABILITY OMIM:615744 HPO:skoehler 06.10.2014
+OMIM:615744 #615744 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19; EIEE19 HP:0002133 Status epilepticus IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > STATUS EPILEPTICUS OMIM:615744 HPO:skoehler 06.10.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615744.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615750.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615750.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615750.tab 2014-10-06 14:25:28 UTC (rev 5211)
@@ -0,0 +1,10 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:615750 #615750 MOYAMOYA DISEASE 6 WITH ACHALASIA; MYMY6 HP:0002571 Achalasia IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > ACHALASIA OMIM:615750 HPO:skoehler 06.10.2014
+OMIM:615750 #615750 MOYAMOYA DISEASE 6 WITH ACHALASIA; MYMY6 HP:0002015 Dysphagia IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > DYSPHAGIA OMIM:615750 HPO:skoehler 06.10.2014
+OMIM:615750 #615750 MOYAMOYA DISEASE 6 WITH ACHALASIA; MYMY6 HP:0000822 Hypertension IEA IEA rare OMIM-CS:CARDIOVASCULAR_VASCULAR > HYPERTENSION (IN SOME PATIENTS) OMIM:615750 HPO:skoehler 06.10.2014
+OMIM:615750 #615750 MOYAMOYA DISEASE 6 WITH ACHALASIA; MYMY6 HP:0002140 Ischemic stroke IEA IEA rare OMIM-CS:CARDIOVASCULAR_VASCULAR > ISCHEMIC STROKE (IN SOME PATIENTS) OMIM:615750 HPO:skoehler 06.10.2014
+OMIM:615750 #615750 MOYAMOYA DISEASE 6 WITH ACHALASIA; MYMY6 HP:0000802 Impotence IEA IEA OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > ERECTILE DYSFUNCTION OMIM:615750 HPO:skoehler 06.10.2014
+OMIM:615750 #615750 MOYAMOYA DISEASE 6 WITH ACHALASIA; MYMY6 HP:0001269 Hemiparesis IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HEMIPARESIS (IN SOME PATIENTS) OMIM:615750 HPO:skoehler 06.10.2014
+OMIM:615750 #615750 MOYAMOYA DISEASE 6 WITH ACHALASIA; MYMY6 HP:0002140 Ischemic stroke IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ISCHEMIC STROKE (IN SOME PATIENTS) OMIM:615750 HPO:skoehler 06.10.2014
+OMIM:615750 #615750 MOYAMOYA DISEASE 6 WITH ACHALASIA; MYMY6 HP:0001250 Seizures IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES (1 PATIENT) OMIM:615750 HPO:skoehler 06.10.2014
+OMIM:615750 #615750 MOYAMOYA DISEASE 6 WITH ACHALASIA; MYMY6 HP:0000965 Cutis marmorata IEA IEA rare OMIM-CS:SKIN, NAILS, HAIR_SKIN > LIVEDO RETICULARIS (1 PATIENT) OMIM:615750 HPO:skoehler 06.10.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615750.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615751.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615751.tab (rev 0)
+++ phenotype-commons/annotati...
[truncated message content] |
|
From: <koe...@us...> - 2014-10-06 13:04:49
|
Revision: 5210
http://sourceforge.net/p/obo/svn/5210
Author: koehlers
Date: 2014-10-06 13:04:42 +0000 (Mon, 06 Oct 2014)
Log Message:
-----------
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/misc/jarFiles/generateAnnotationFile.jar
Modified: phenotype-commons/annotations/OMIM/by-disease/misc/jarFiles/generateAnnotationFile.jar
===================================================================
(Binary files differ)
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <cmu...@us...> - 2014-09-25 00:43:58
|
Revision: 5209
http://sourceforge.net/p/obo/svn/5209
Author: cmungall
Date: 2014-09-25 00:43:51 +0000 (Thu, 25 Sep 2014)
Log Message:
-----------
new-release
Added Paths:
-----------
uberon/releases/2014-09-23/
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <cmu...@us...> - 2014-09-19 15:13:53
|
Revision: 5206
http://sourceforge.net/p/obo/svn/5206
Author: cmungall
Date: 2014-09-19 15:13:39 +0000 (Fri, 19 Sep 2014)
Log Message:
-----------
patch for #521
Modified Paths:
--------------
uberon/trunk/composite-metazoan-basic.obo
uberon/trunk/composite-metazoan.obo
Modified: uberon/trunk/composite-metazoan-basic.obo
===================================================================
--- uberon/trunk/composite-metazoan-basic.obo 2014-09-19 05:33:36 UTC (rev 5205)
+++ uberon/trunk/composite-metazoan-basic.obo 2014-09-19 15:13:39 UTC (rev 5206)
@@ -1,5 +1,5 @@
format-version: 1.2
-date: 18:09:2014 18:32
+date: 19:09:2014 08:09
saved-by: cjm
default-namespace: file:/Users/cjm/repos/uberon/composite-metazoan-basic.obo.tmp
ontology: uberon/composite-metazoan-basic
@@ -1086,7 +1086,7 @@
name: spermatogonium
is_a: CL:0000015 ! male germ cell
is_a: FBbt:00057011 {gci_filler="NCBITaxon:7227", gci_relation="part_of"} ! male germline cell (Drosophila)
-is_a: UBERON:0005156 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! reproductive structure
+is_a: UBERON:0005156 {gci_filler="NCBITaxon:7227", gci_relation="part_of"} ! reproductive structure
relationship: develops_from CL:0000087 {gci_filler="NCBITaxon:7227", gci_relation="part_of"} ! male germ line stem cell (sensu Nematoda and Protostomia)
relationship: existence_ends_during_or_before UBERON:0000113 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! post-juvenile adult stage
relationship: part_of FBbt:00007138 {gci_filler="NCBITaxon:7227", gci_relation="part_of"} ! spermatogonial cyst (Drosophila)
@@ -1158,7 +1158,7 @@
id: CL:0000029
name: neuron neural crest derived
is_a: CL:0000540 ! neuron
-is_a: UBERON:0010313 ! neural crest-derived structure
+is_a: UBERON:0010313 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! neural crest-derived structure
relationship: develops_from CL:0000333 ! migratory neural crest cell
relationship: develops_from CL:0002676 ! neural crest derived neuroblast
relationship: existence_ends_during_or_before UBERON:0000113 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! post-juvenile adult stage
@@ -1168,7 +1168,7 @@
name: glioblast
is_a: CL:0000055 ! non-terminally differentiated cell
is_a: FBbt:00007008 {gci_filler="NCBITaxon:7227", gci_relation="part_of"} ! somatic precursor cell (Drosophila)
-is_a: UBERON:0004121 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! ectoderm-derived structure
+is_a: UBERON:0004121 ! ectoderm-derived structure
relationship: develops_from CL:0000133 ! neurectodermal cell
relationship: develops_from UBERON:0002346 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! neurectoderm
relationship: existence_starts_during_or_after ZFS:0000025 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! Segmentation:10-13 somites (Danio)
@@ -1187,7 +1187,7 @@
id: CL:0000032
name: neuroplacodal cell
is_a: CL:0002321 ! embryonic cell
-is_a: UBERON:0004121 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! ectoderm-derived structure
+is_a: UBERON:0004121 ! ectoderm-derived structure
relationship: develops_from CL:0000114 ! surface ectodermal cell
relationship: existence_ends_during_or_before UBERON:0000113 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! post-juvenile adult stage
@@ -1365,7 +1365,7 @@
is_a: CL:0000146 ! simple columnar epithelial cell
is_a: CL:0000151 ! secretory cell
is_a: UBERON:0004119 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! endoderm-derived structure
-is_a: UBERON:0004121 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! ectoderm-derived structure
+is_a: UBERON:0004121 ! ectoderm-derived structure
is_a: UBERON:0010314 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! structure with developmental contribution from neural crest
relationship: develops_from CL:0007000 ! preameloblast
relationship: develops_from UBERON:0003843 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! dental epithelium
@@ -1379,7 +1379,7 @@
is_a: CL:0002159 ! general ecto-epithelial cell
is_a: UBERON:0002050 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! embryonic structure
is_a: UBERON:0004119 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! endoderm-derived structure
-is_a: UBERON:0010313 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! neural crest-derived structure
+is_a: UBERON:0010313 ! neural crest-derived structure
relationship: develops_from CL:0000008 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! migratory cranial neural crest cell
relationship: develops_from CL:0007003 ! preodontoblast
relationship: existence_ends_during_or_before UBERON:0000113 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! post-juvenile adult stage
@@ -1402,7 +1402,7 @@
is_a: CL:0000055 ! non-terminally differentiated cell
is_a: CL:0002320 ! connective tissue cell
is_a: UBERON:0004120 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! mesoderm-derived structure
-is_a: UBERON:0010313 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! neural crest-derived structure
+is_a: UBERON:0010313 ! neural crest-derived structure
relationship: develops_from CL:0000008 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! migratory cranial neural crest cell
relationship: develops_from CL:0007010 ! preosteoblast
relationship: existence_ends_during_or_before UBERON:0000113 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! post-juvenile adult stage
@@ -1497,7 +1497,7 @@
name: mesothelial cell
is_a: CL:0000076 ! squamous epithelial cell
is_a: CL:0000213 ! lining cell
-is_a: UBERON:0004120 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! mesoderm-derived structure
+is_a: UBERON:0004120 ! mesoderm-derived structure
relationship: develops_from CL:0000222 ! mesodermal cell
relationship: existence_ends_during_or_before UBERON:0000113 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! post-juvenile adult stage
@@ -1546,7 +1546,7 @@
name: epithelial cell of pancreas
is_a: CL:0000066 ! epithelial cell
is_a: CL:0002371 ! somatic cell
-is_a: UBERON:0004119 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! endoderm-derived structure
+is_a: UBERON:0004119 ! endoderm-derived structure
relationship: develops_from CL:0000223 ! endodermal cell
relationship: existence_ends_during_or_before UBERON:0000113 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! post-juvenile adult stage
relationship: part_of UBERON:0001264 ! pancreas
@@ -1904,7 +1904,7 @@
is_a: CL:0000076 ! squamous epithelial cell
is_a: CL:0000115 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! endothelial cell
is_a: CL:0000710 ! neurecto-epithelial cell
-is_a: UBERON:0010313 ! neural crest-derived structure
+is_a: UBERON:0010313 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! neural crest-derived structure
relationship: develops_from CL:0000008 ! migratory cranial neural crest cell
relationship: existence_ends_during_or_before UBERON:0000113 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! post-juvenile adult stage
relationship: part_of UBERON:0001985 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! corneal endothelium
@@ -1944,7 +1944,7 @@
id: CL:0000137
name: osteocyte
is_a: CL:0001035 ! bone cell
-is_a: UBERON:0004120 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! mesoderm-derived structure
+is_a: UBERON:0004120 ! mesoderm-derived structure
is_a: UBERON:0010313 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! neural crest-derived structure
relationship: develops_from CL:0000062 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! osteoblast
relationship: develops_from CL:0001040 ! non-terminally differentiated osteoblast
@@ -2130,7 +2130,7 @@
id: CL:0000166
name: chromaffin cell
is_a: CL:0000568 ! APUD cell
-is_a: UBERON:0010313 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! neural crest-derived structure
+is_a: UBERON:0010313 ! neural crest-derived structure
relationship: develops_from CL:0000333 ! migratory neural crest cell
relationship: existence_ends_during_or_before UBERON:0000113 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! post-juvenile adult stage
@@ -2263,7 +2263,7 @@
name: myoepithelial cell
is_a: CL:0000075 ! columnar/cuboidal epithelial cell
is_a: CL:0000183 ! contractile cell
-is_a: UBERON:0004120 ! mesoderm-derived structure
+is_a: UBERON:0004120 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! mesoderm-derived structure
relationship: develops_from CL:0000222 ! mesodermal cell
relationship: existence_ends_during_or_before UBERON:0000113 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! post-juvenile adult stage
@@ -2282,7 +2282,7 @@
is_a: CL:0000548 ! animal cell
is_a: CL:0002371 ! somatic cell
is_a: FBbt:00100318 {gci_filler="NCBITaxon:7227", gci_relation="part_of"} ! somatic cell (Drosophila)
-is_a: UBERON:0004120 {gci_filler="NCBITaxon:7227", gci_relation="part_of"} ! mesoderm-derived structure
+is_a: UBERON:0004120 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! mesoderm-derived structure
relationship: develops_from CL:0000056 ! myoblast
relationship: existence_ends_during_or_before UBERON:0000113 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! post-juvenile adult stage
relationship: existence_starts_during_or_after ZFS:0000023 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! Segmentation:1-4 somites (Danio)
@@ -2502,7 +2502,7 @@
id: CL:0000221
name: ectodermal cell
is_a: CL:0002321 ! embryonic cell
-is_a: UBERON:0002050 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! embryonic structure
+is_a: UBERON:0002050 ! embryonic structure
relationship: existence_starts_during_or_after ZFS:0000020 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! Gastrula:75%-epiboly (Danio)
relationship: part_of UBERON:0000924 ! ectoderm
@@ -2510,7 +2510,7 @@
id: CL:0000222
name: mesodermal cell
is_a: CL:0002321 ! embryonic cell
-is_a: UBERON:0002050 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! embryonic structure
+is_a: UBERON:0002050 ! embryonic structure
relationship: existence_starts_during_or_after ZFS:0000020 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! Gastrula:75%-epiboly (Danio)
relationship: part_of UBERON:0000926 ! mesoderm
@@ -2635,7 +2635,7 @@
id: CL:0000243
name: glial cell (sensu Vertebrata)
is_a: CL:0000125 ! glial cell
-is_a: UBERON:0010313 ! neural crest-derived structure
+is_a: UBERON:0010313 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! neural crest-derived structure
relationship: develops_from CL:0000339 ! glioblast (sensu Vertebrata)
relationship: existence_ends_during_or_before UBERON:0000113 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! post-juvenile adult stage
@@ -2811,7 +2811,7 @@
is_a: UBERON:0005156 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! reproductive structure
relationship: existence_ends_during_or_before UBERON:0000113 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! post-juvenile adult stage
relationship: existence_starts_during_or_after ZFS:0000041 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! Larval:Days 21-29 (Danio)
-relationship: part_of UBERON:0000991 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! gonad
+relationship: part_of UBERON:0000991 {gci_filler="NCBITaxon:7227", gci_relation="part_of"} ! gonad
[Term]
id: CL:0000301
@@ -2965,7 +2965,7 @@
is_a: CL:0000219 ! motile cell
is_a: CL:0002321 ! embryonic cell
is_a: UBERON:0002050 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! embryonic structure
-is_a: UBERON:0010313 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! neural crest-derived structure
+is_a: UBERON:0010313 ! neural crest-derived structure
relationship: develops_from CL:0000133 ! neurectodermal cell
relationship: develops_from CL:0007004 ! premigratory neural crest cell
relationship: existence_ends_during_or_before ZFS:0000031 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! Pharyngula:Prim-25 (Danio)
@@ -3044,8 +3044,8 @@
id: CL:0000345
name: dental papilla cell
is_a: CL:0000134 ! mesenchymal cell
-is_a: UBERON:0002050 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! embryonic structure
-is_a: UBERON:0010313 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! neural crest-derived structure
+is_a: UBERON:0002050 ! embryonic structure
+is_a: UBERON:0010313 ! neural crest-derived structure
relationship: develops_from CL:0000008 ! migratory cranial neural crest cell
relationship: existence_ends_during_or_before UBERON:0000113 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! post-juvenile adult stage
relationship: part_of UBERON:0001763 ! odontogenic papilla
@@ -3072,7 +3072,7 @@
id: CL:0000348
name: choroidal cell of the eye
is_a: CL:0000293 ! structural cell
-is_a: UBERON:0010313 ! neural crest-derived structure
+is_a: UBERON:0010313 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! neural crest-derived structure
relationship: develops_from CL:0000008 ! migratory cranial neural crest cell
relationship: existence_ends_during_or_before UBERON:0000113 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! post-juvenile adult stage
relationship: part_of UBERON:0001776 ! optic choroid
@@ -3082,7 +3082,7 @@
name: extraembryonic cell
is_a: CL:0000548 ! animal cell
is_a: CL:0002371 ! somatic cell
-is_a: UBERON:0000478 ! extraembryonic structure
+is_a: UBERON:0000478 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! extraembryonic structure
relationship: existence_ends_during_or_before UBERON:0000113 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! post-juvenile adult stage
relationship: part_of UBERON:0000478 ! extraembryonic structure
@@ -3163,7 +3163,7 @@
id: CL:0000361
name: gastrula cell
is_a: CL:0000007 ! early embryonic cell
-is_a: UBERON:0002050 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! embryonic structure
+is_a: UBERON:0002050 ! embryonic structure
relationship: existence_ends_during_or_before ZFS:0000019 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! Gastrula:Shield (Danio)
relationship: existence_starts_during_or_after ZFS:0000017 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! Gastrula:50%-epiboly (Danio)
relationship: part_of UBERON:0004734 ! gastrula
@@ -4183,7 +4183,7 @@
is_a: CL:0000404 ! electrically signaling cell
is_a: CL:0002319 ! neural cell
is_a: FBbt:00100318 {gci_filler="NCBITaxon:7227", gci_relation="part_of"} ! somatic cell (Drosophila)
-is_a: UBERON:0004121 ! ectoderm-derived structure
+is_a: UBERON:0004121 {gci_filler="NCBITaxon:6237", gci_relation="part_of"} ! ectoderm-derived structure
relationship: develops_from CL:0000031 ! neuroblast
relationship: existence_ends_during_or_before UBERON:0000113 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! post-juvenile adult stage
relationship: existence_starts_during_or_after ZFS:0000023 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! Segmentation:1-4 somites (Danio)
@@ -4193,7 +4193,7 @@
name: melanoblast
is_a: CL:0000055 ! non-terminally differentiated cell
is_a: CL:0000710 ! neurecto-epithelial cell
-is_a: UBERON:0010313 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! neural crest-derived structure
+is_a: UBERON:0010313 ! neural crest-derived structure
relationship: develops_from CL:0000333 ! migratory neural crest cell
relationship: existence_starts_during_or_after ZFS:0000025 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! Segmentation:10-13 somites (Danio)
@@ -4382,7 +4382,7 @@
is_a: CL:0000134 ! mesenchymal cell
is_a: CL:0002494 ! cardiocyte
is_a: UBERON:0004120 ! mesoderm-derived structure
-is_a: UBERON:0010313 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! neural crest-derived structure
+is_a: UBERON:0010313 ! neural crest-derived structure
relationship: develops_from CL:0000011 ! migratory trunk neural crest cell
relationship: develops_from CL:0000134 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! mesenchymal cell
relationship: existence_ends_during_or_before UBERON:0000113 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! post-juvenile adult stage
@@ -4394,8 +4394,8 @@
is_a: CL:0000443 ! calcitonin secreting cell
is_a: CL:0000458 ! serotonin secreting cell
is_a: CL:0000710 ! neurecto-epithelial cell
-is_a: UBERON:0004119 ! endoderm-derived structure
-is_a: UBERON:0010313 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! neural crest-derived structure
+is_a: UBERON:0004119 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! endoderm-derived structure
+is_a: UBERON:0010313 ! neural crest-derived structure
relationship: develops_from CL:0000333 ! migratory neural crest cell
relationship: existence_ends_during_or_before UBERON:0000113 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! post-juvenile adult stage
relationship: part_of UBERON:0001747 ! parenchyma of thyroid gland
@@ -4420,7 +4420,7 @@
id: CL:0000574
name: erythrophore
is_a: CL:0000147 ! pigment cell
-is_a: UBERON:0010313 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! neural crest-derived structure
+is_a: UBERON:0010313 ! neural crest-derived structure
relationship: develops_from CL:0005004 ! pigment erythroblast
relationship: existence_ends_during_or_before UBERON:0000113 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! post-juvenile adult stage
relationship: part_of UBERON:0002199 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! integument
@@ -4430,7 +4430,7 @@
name: corneal epithelial cell
is_a: CL:0000076 ! squamous epithelial cell
is_a: CL:0002159 ! general ecto-epithelial cell
-is_a: UBERON:0010313 ! neural crest-derived structure
+is_a: UBERON:0010313 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! neural crest-derived structure
relationship: existence_ends_during_or_before UBERON:0000113 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! post-juvenile adult stage
relationship: part_of UBERON:0000964 ! cornea
@@ -4731,7 +4731,7 @@
name: olfactory granule cell
is_a: CL:0000120 ! granule cell
is_a: CL:0012001 ! neuron of the forebrain
-is_a: UBERON:0010314 ! structure with developmental contribution from neural crest
+is_a: UBERON:0010314 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! structure with developmental contribution from neural crest
relationship: existence_ends_during_or_before UBERON:0000113 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! post-juvenile adult stage
relationship: part_of UBERON:0002264 ! olfactory bulb
@@ -4993,7 +4993,7 @@
name: primordial germ cell
is_a: CL:0000039 ! germ line cell
is_a: CL:0000219 ! motile cell
-is_a: UBERON:0002050 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! embryonic structure
+is_a: UBERON:0002050 ! embryonic structure
is_a: UBERON:0005156 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! reproductive structure
relationship: existence_starts_during_or_after ZFS:0000014 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! Blastula:Sphere (Danio)
relationship: part_of UBERON:0000922 ! embryo
@@ -5095,7 +5095,7 @@
name: cerebrospinal fluid secreting cell
is_a: CL:0000075 ! columnar/cuboidal epithelial cell
is_a: CL:0000151 ! secretory cell
-is_a: UBERON:0010313 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! neural crest-derived structure
+is_a: UBERON:0010313 ! neural crest-derived structure
relationship: develops_from CL:0000333 ! migratory neural crest cell
relationship: existence_ends_during_or_before UBERON:0000113 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! post-juvenile adult stage
@@ -5446,7 +5446,7 @@
name: cardiac muscle cell
is_a: CL:0000737 ! striated muscle cell
is_a: CL:0002494 ! cardiocyte
-is_a: UBERON:0010314 ! structure with developmental contribution from neural crest
+is_a: UBERON:0010314 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! structure with developmental contribution from neural crest
is_a: ZFA:0005784 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! striated muscle cell (Danio)
relationship: develops_from CL:0000513 ! cardiac muscle myoblast
relationship: existence_ends_during_or_before UBERON:0000113 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! post-juvenile adult stage
@@ -5458,7 +5458,7 @@
id: CL:0000747
name: cyanophore
is_a: CL:0000147 ! pigment cell
-is_a: UBERON:0010313 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! neural crest-derived structure
+is_a: UBERON:0010313 ! neural crest-derived structure
relationship: develops_from CL:0005005 ! cyanoblast
relationship: existence_ends_during_or_before UBERON:0000113 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! post-juvenile adult stage
relationship: part_of UBERON:0002199 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! integument
@@ -11534,7 +11534,7 @@
id: CL:0005003
name: leucoblast
is_a: CL:0000055 ! non-terminally differentiated cell
-is_a: UBERON:0010313 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! neural crest-derived structure
+is_a: UBERON:0010313 ! neural crest-derived structure
relationship: develops_from CL:0000333 ! migratory neural crest cell
relationship: existence_ends_during_or_before ZFS:0000032 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! Pharyngula:High-pec (Danio)
@@ -11542,7 +11542,7 @@
id: CL:0005004
name: pigment erythroblast
is_a: CL:0000055 ! non-terminally differentiated cell
-is_a: UBERON:0010313 ! neural crest-derived structure
+is_a: UBERON:0010313 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! neural crest-derived structure
relationship: develops_from CL:0000333 ! migratory neural crest cell
relationship: existence_ends_during_or_before ZFS:0000032 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! Pharyngula:High-pec (Danio)
@@ -120771,7 +120771,7 @@
is_a: MA:0000581 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! head organ (Mus)
is_a: UBERON:0002268 ! main olfactory organ
is_a: UBERON:0004121 ! ectoderm-derived structure
-is_a: UBERON:0010314 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! structure with developmental contribution from neural crest
+is_a: UBERON:0010314 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! structure with developmental contribution from neural crest
relationship: capable_of_part_of GO:0007608 ! sensory perception of smell
relationship: contributes_to_morphology_of UBERON:0001004 ! respiratory system
relationship: contributes_to_morphology_of UBERON:0001456 ! face
@@ -120785,7 +120785,7 @@
relationship: part_of UBERON:0001004 ! respiratory system
relationship: part_of UBERON:0001456 ! face
relationship: part_of UBERON:0004089 {gci_filler="NCBITaxon:7776", gci_relation="part_of"} ! midface
-relationship: part_of UBERON:0005725 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! olfactory system
+relationship: part_of UBERON:0005725 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! olfactory system
relationship: part_of UBERON:0006333 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! snout
[Term]
@@ -120854,7 +120854,7 @@
[Term]
id: UBERON:0000010
name: peripheral nervous system
-is_a: UBERON:0001016 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! nervous system
+is_a: UBERON:0001016 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! nervous system
is_a: UBERON:0011216 ! organ system subdivision
relationship: existence_ends_during_or_before MmusDv:0000035 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! Theiler stage 26 (mouse)
relationship: existence_ends_during_or_before UBERON:0000113 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! post-juvenile adult stage
@@ -121077,7 +121077,7 @@
id: UBERON:0000033
name: head
is_a: FBbt:00000002 {gci_filler="NCBITaxon:7227", gci_relation="part_of"} ! tagma (Drosophila)
-is_a: UBERON:0010314 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! structure with developmental contribution from neural crest
+is_a: UBERON:0010314 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! structure with developmental contribution from neural crest
is_a: UBERON:0011676 ! subdivision of organism along main body axis
is_a: WBbt:0005738 {gci_filler="NCBITaxon:6237", gci_relation="part_of"} ! body region (C elegans)
relationship: existence_ends_during_or_before MmusDv:0000035 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! Theiler stage 26 (mouse)
@@ -121204,7 +121204,7 @@
relationship: existence_starts_during_or_after XAO:1000037 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! NF stage 21 (Xenopus)
relationship: existence_starts_during_or_after ZFS:0000023 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! Segmentation:1-4 somites (Danio)
relationship: immediate_transformation_of UBERON:0003869 ! presumptive ganglion
-relationship: part_of UBERON:0000010 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! peripheral nervous system
+relationship: part_of UBERON:0000010 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! peripheral nervous system
relationship: part_of UBERON:0001016 ! nervous system
[Term]
@@ -121378,7 +121378,7 @@
[Term]
id: UBERON:0000066
name: fully formed stage
-is_a: UBERON:0000105 ! life cycle stage
+is_a: UBERON:0000105 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! life cycle stage
relationship: immediately_preceded_by FBdv:00005366 {gci_filler="NCBITaxon:7227", gci_relation="part_of"} ! pharate adult stage P15 (Drosophila)
relationship: immediately_preceded_by FBdv:00005368 {gci_filler="NCBITaxon:7227", gci_relation="part_of"} ! pharate adult stage P15(ii) (Drosophila)
relationship: immediately_preceded_by FBdv:00006011 {gci_filler="NCBITaxon:7227", gci_relation="part_of"} ! pharate adult stage (Drosophila)
@@ -121405,7 +121405,7 @@
[Term]
id: UBERON:0000068
name: embryo stage
-is_a: UBERON:0000105 {gci_filler="NCBITaxon:9598", gci_relation="part_of"} ! life cycle stage
+is_a: UBERON:0000105 {gci_filler="NCBITaxon:9597", gci_relation="part_of"} ! life cycle stage
is_a: WBls:0000091 {gci_filler="NCBITaxon:6237", gci_relation="part_of"} ! all stages Bma
is_a: WBls:0000101 {gci_filler="NCBITaxon:6237", gci_relation="part_of"} ! all stages nematode
relationship: immediately_preceded_by UBERON:0000106 {gci_filler="NCBITaxon:7227", gci_relation="part_of"} ! zygote stage
@@ -121424,7 +121424,7 @@
relationship: only_in_taxon NCBITaxon:9823 {gci_filler="NCBITaxon:9823", gci_relation="part_of"} ! Sus scrofa
relationship: only_in_taxon NCBITaxon:9913 {gci_filler="NCBITaxon:9913", gci_relation="part_of"} ! Bos taurus
relationship: only_in_taxon NCBITaxon:99883 {gci_filler="NCBITaxon:99883", gci_relation="part_of"} ! Tetraodon nigroviridis
-relationship: part_of UBERON:0000104 {gci_filler="NCBITaxon:10116", gci_relation="part_of"} ! life cycle
+relationship: part_of UBERON:0000104 {gci_filler="NCBITaxon:28377", gci_relation="part_of"} ! life cycle
relationship: precedes UBERON:0000066 ! fully formed stage
relationship: precedes UBERON:0000092 ! post-embryonic stage
relationship: simultaneous_with GO:0009790 ! embryo development
@@ -121751,7 +121751,7 @@
id: UBERON:0000104
name: life cycle
is_a: UBERON:0000000 ! processual entity
-is_a: UBERON:0000105 {gci_filler="NCBITaxon:9600", gci_relation="part_of"} ! life cycle stage
+is_a: UBERON:0000105 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! life cycle stage
relationship: ends_with UBERON:0000071 ! death stage
relationship: has_part UBERON:0000105 ! life cycle stage
relationship: only_in_taxon NCBITaxon:10090 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! Mus musculus
@@ -121798,7 +121798,7 @@
is_a: FBdv:00005259 {gci_filler="NCBITaxon:7227", gci_relation="part_of"} ! developmental stage
is_a: PdumDv:0000090 {gci_filler="NCBITaxon:6358", gci_relation="part_of"} ! Platynereis developmental stage
is_a: UBERON:0000067 ! embryo stage part
-is_a: UBERON:0000105 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! life cycle stage
+is_a: UBERON:0000105 {gci_filler="NCBITaxon:9606", gci_relation="part_of"} ! life cycle stage
is_a: XAO:1000094 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! NF stage (Xenopus)
relationship: existence_ends_during_or_before UBERON:0000106 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! zygote stage
relationship: existence_starts_during_or_after UBERON:0000106 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! zygote stage
@@ -121823,7 +121823,7 @@
is_a: UBERON:0000105 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! life cycle stage
intersection_of: UBERON:0000105 ! life cycle stage
intersection_of: simultaneous_with GO:0040016 ! embryonic cleavage
-relationship: immediately_preceded_by UBERON:0000106 ! zygote stage
+relationship: immediately_preceded_by UBERON:0000106 {gci_filler="NCBITaxon:9606", gci_relation="part_of"} ! zygote stage
relationship: only_in_taxon NCBITaxon:10090 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! Mus musculus
relationship: only_in_taxon NCBITaxon:6358 {gci_filler="NCBITaxon:6358", gci_relation="part_of"} ! Platynereis
relationship: only_in_taxon NCBITaxon:9606 {gci_filler="NCBITaxon:9606", gci_relation="part_of"} ! Homo sapiens
@@ -121853,7 +121853,7 @@
is_a: FBdv:00005259 {gci_filler="NCBITaxon:7227", gci_relation="part_of"} ! developmental stage
is_a: UBERON:0000067 ! embryo stage part
is_a: UBERON:0000068 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! embryo stage
-is_a: UBERON:0000105 {gci_filler="NCBITaxon:9606", gci_relation="part_of"} ! life cycle stage
+is_a: UBERON:0000105 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! life cycle stage
relationship: immediately_preceded_by FBdv:00005304 {gci_filler="NCBITaxon:7227", gci_relation="part_of"} ! blastoderm stage (Drosophila)
relationship: immediately_preceded_by FBdv:00005311 {gci_filler="NCBITaxon:7227", gci_relation="part_of"} ! embryonic stage 5 (Drosophila)
relationship: immediately_preceded_by RnorDv:0000004 {gci_filler="NCBITaxon:10116", gci_relation="part_of"} ! cleavage and blastula stage (rat)
@@ -121875,7 +121875,7 @@
name: neurula stage
is_a: UBERON:0000067 ! embryo stage part
is_a: UBERON:0000068 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! embryo stage
-is_a: UBERON:0000105 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! life cycle stage
+is_a: UBERON:0000105 {gci_filler="NCBITaxon:10116", gci_relation="part_of"} ! life cycle stage
relationship: immediately_preceded_by MmusDv:0000015 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! Theiler stage 10 (mouse)
relationship: immediately_preceded_by RnorDv:0000006 {gci_filler="NCBITaxon:10116", gci_relation="part_of"} ! primitive streak stage (rat)
relationship: only_in_taxon NCBITaxon:10090 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! Mus musculus
@@ -121886,7 +121886,7 @@
relationship: part_of MmusDv:0000002 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! embryonic mouse stage (mouse)
relationship: part_of RnorDv:0000003 {gci_filler="NCBITaxon:10116", gci_relation="part_of"} ! embryonic stage (rat)
relationship: part_of UBERON:0000068 ! embryo stage
-relationship: preceded_by UBERON:0000109 ! gastrula stage
+relationship: preceded_by UBERON:0000109 {gci_filler="NCBITaxon:9606", gci_relation="part_of"} ! gastrula stage
relationship: simultaneous_with GO:0001841 ! neural tube formation
[Term]
@@ -121910,8 +121910,8 @@
[Term]
id: UBERON:0000112
name: sexually immature stage
-is_a: UBERON:0000105 {gci_filler="NCBITaxon:99883", gci_relation="part_of"} ! life cycle stage
-relationship: immediately_preceded_by UBERON:0000068 {gci_filler="NCBITaxon:9258", gci_relation="part_of"} ! embryo stage
+is_a: UBERON:0000105 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! life cycle stage
+relationship: immediately_preceded_by UBERON:0000068 {gci_filler="NCBITaxon:9823", gci_relation="part_of"} ! embryo stage
relationship: immediately_preceded_by UBERON:0000069 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! larval stage
relationship: immediately_preceded_by XAO:1000078 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! NF stage 66 (Xenopus)
relationship: only_in_taxon NCBITaxon:10090 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! Mus musculus
@@ -121930,7 +121930,7 @@
relationship: only_in_taxon NCBITaxon:9913 {gci_filler="NCBITaxon:9913", gci_relation="part_of"} ! Bos taurus
relationship: only_in_taxon NCBITaxon:99883 {gci_filler="NCBITaxon:99883", gci_relation="part_of"} ! Tetraodon nigroviridis
relationship: part_of UBERON:0000066 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! fully formed stage
-relationship: part_of UBERON:0000104 {gci_filler="NCBITaxon:10116", gci_relation="part_of"} ! life cycle
+relationship: part_of UBERON:0000104 {gci_filler="NCBITaxon:9823", gci_relation="part_of"} ! life cycle
relationship: preceded_by UBERON:0000069 {gci_filler="NCBITaxon:7955", gci_relation="part_of"} ! larval stage
[Term]
@@ -121938,7 +121938,7 @@
name: post-juvenile adult stage
is_a: OlatDv:0000010 {gci_filler="NCBITaxon:8090", gci_relation="part_of"} ! developmental stage
is_a: PdumDv:0000090 {gci_filler="NCBITaxon:6358", gci_relation="part_of"} ! Platynereis developmental stage
-is_a: UBERON:0000105 {gci_filler="NCBITaxon:28377", gci_relation="part_of"} ! life cycle stage
+is_a: UBERON:0000105 {gci_filler="NCBITaxon:9258", gci_relation="part_of"} ! life cycle stage
relationship: immediately_preceded_by OlatDv:0000460 {gci_filler="NCBITaxon:8090", gci_relation="part_of"} ! Medaka stage 43
relationship: immediately_preceded_by UBERON:0000112 {gci_filler="NCBITaxon:28377", gci_relation="part_of"} ! sexually immature stage
relationship: immediately_preceded_by ZFS:0000043 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! Juvenile:Days 45-89 (Danio)
@@ -121959,10 +121959,10 @@
relationship: only_in_taxon NCBITaxon:9823 {gci_filler="NCBITaxon:9823", gci_relation="part_of"} ! Sus scrofa
relationship: only_in_taxon NCBITaxon:9913 {gci_filler="NCBITaxon:9913", gci_relation="part_of"} ! Bos taurus
relationship: only_in_taxon NCBITaxon:99883 {gci_filler="NCBITaxon:99883", gci_relation="part_of"} ! Tetraodon nigroviridis
-relationship: part_of UBERON:0000066 ! fully formed stage
-relationship: part_of UBERON:0000104 {gci_filler="NCBITaxon:9823", gci_relation="part_of"} ! life cycle
+relationship: part_of UBERON:0000066 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! fully formed stage
+relationship: part_of UBERON:0000104 {gci_filler="NCBITaxon:9544", gci_relation="part_of"} ! life cycle
relationship: preceded_by PdumDv:0001550 {gci_filler="NCBITaxon:6358", gci_relation="part_of"} ! sexual metamorphosis stage
-relationship: preceded_by UBERON:0000112 {gci_filler="NCBITaxon:9597", gci_relation="part_of"} ! sexually immature stage
+relationship: preceded_by UBERON:0000112 {gci_filler="NCBITaxon:9593", gci_relation="part_of"} ! sexually immature stage
[Term]
id: UBERON:0000114
@@ -122207,7 +122207,7 @@
name: intestine
is_a: UBERON:0004185 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! endodermal part of digestive tract
is_a: UBERON:0004921 ! subdivision of digestive tract
-is_a: UBERON:0013765 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! digestive system element
+is_a: UBERON:0013765 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! digestive system element
relationship: contributes_to_morphology_of UBERON:0001007 ! digestive system
relationship: existence_ends_during_or_before MmusDv:0000035 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! Theiler stage 26 (mouse)
relationship: existence_ends_during_or_before UBERON:0000113 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! post-juvenile adult stage
@@ -122325,7 +122325,7 @@
relationship: existence_starts_during_or_after XAO:1000049 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! NF stage 35 and 36 (Xenopus)
relationship: existence_starts_during_or_after ZFS:0000035 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! Larval:Protruding-mouth (Danio)
relationship: part_of UBERON:0000165 ! mouth
-relationship: part_of UBERON:0001007 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! digestive system
+relationship: part_of UBERON:0001007 {gci_filler="NCBITaxon:6237", gci_relation="part_of"} ! digestive system
relationship: part_of WBbt:0008374 {gci_filler="NCBITaxon:6237", gci_relation="part_of"} ! stoma (C elegans)
[Term]
@@ -124010,10 +124010,10 @@
[Term]
id: UBERON:0000931
name: proctodeum
-is_a: UBERON:0002050 {gci_filler="NCBITaxon:7227", gci_relation="part_of"} ! embryonic structure
+is_a: UBERON:0002050 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! embryonic structure
is_a: UBERON:0004119 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! endoderm-derived structure
is_a: UBERON:0004120 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! mesoderm-derived structure
-is_a: UBERON:0004121 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! ectoderm-derived structure
+is_a: UBERON:0004121 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! ectoderm-derived structure
is_a: UBERON:0004906 {gci_filler="NCBITaxon:7227", gci_relation="part_of"} ! ectodermal part of digestive tract
is_a: UBERON:0016566 ! pit
relationship: develops_from UBERON:0000924 ! ectoderm
@@ -124042,7 +124042,7 @@
is_a: UBERON:0001630 ! muscle organ
is_a: UBERON:0002050 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! embryonic structure
is_a: UBERON:0002376 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! cranial muscle
-is_a: UBERON:0003831 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! respiratory system muscle
+is_a: UBERON:0003831 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! respiratory system muscle
is_a: UBERON:0004119 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! endoderm-derived structure
is_a: UBERON:0004253 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! skin muscle
is_a: UBERON:0013765 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! digestive system element
@@ -124078,7 +124078,7 @@
[Term]
id: UBERON:0000936
name: posterior commissure
-is_a: UBERON:0003931 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! diencephalic white matter
+is_a: UBERON:0003931 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! diencephalic white matter
is_a: UBERON:0011590 ! commissure of diencephalon
is_a: UBERON:0014891 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! brainstem white matter
intersection_of: UBERON:0001020 ! nervous system commissure
@@ -124196,7 +124196,7 @@
relationship: has_part UBERON:0004151 ! cardiac chamber
relationship: only_in_taxon NCBITaxon:7742 ! Vertebrata <Metazoa>
relationship: part_of UBERON:0001074 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! pericardial cavity
-relationship: part_of UBERON:0004535 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! cardiovascular system
+relationship: part_of UBERON:0004535 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! cardiovascular system
relationship: part_of UBERON:0015410 ! heart plus pericardium
[Term]
@@ -124241,10 +124241,10 @@
is_a: MA:0000581 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! head organ (Mus)
is_a: UBERON:0000062 ! organ
is_a: UBERON:0004121 ! ectoderm-derived structure
-is_a: UBERON:0008823 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! neural tube derived brain
+is_a: UBERON:0008823 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! neural tube derived brain
relationship: composed_primarily_of CL:0002319 ! neural cell
relationship: contributes_to_morphology_of UBERON:0001016 ! nervous system
-relationship: develops_from UBERON:0001049 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! neural tube
+relationship: develops_from UBERON:0001049 {gci_filler="NCBITaxon:7711", gci_relation="part_of"} ! neural tube
relationship: existence_ends_during UBERON:0000066 ! fully formed stage
relationship: existence_ends_during_or_before MmusDv:0000035 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! Theiler stage 26 (mouse)
relationship: existence_ends_during_or_before UBERON:0000113 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! post-juvenile adult stage
@@ -124374,7 +124374,7 @@
relationship: has_part CL:0000573 ! retinal cone cell
relationship: has_part CL:0000604 ! retinal rod cell
relationship: has_part CL:0000740 ! retinal ganglion cell
-relationship: part_of UBERON:0000019 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! camera-type eye
+relationship: part_of UBERON:0000019 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! camera-type eye
relationship: part_of UBERON:0001802 ! posterior segment of eyeball
[Term]
@@ -124690,7 +124690,7 @@
id: UBERON:0000993
name: oviduct
is_a: UBERON:0000025 ! tube
-is_a: UBERON:0000058 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! duct
+is_a: UBERON:0000058 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! duct
is_a: UBERON:0005156 ! reproductive structure
relationship: connects UBERON:0000992 ! female gonad
relationship: connects UBERON:0013514 ! space surrounding organism
@@ -124953,7 +124953,7 @@
[Term]
id: UBERON:0001017
name: central nervous system
-is_a: UBERON:0001016 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! nervous system
+is_a: UBERON:0001016 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! nervous system
is_a: UBERON:0004121 ! ectoderm-derived structure
is_a: UBERON:0011216 ! organ system subdivision
relationship: develops_from UBERON:0001049 {gci_filler="NCBITaxon:7742", gci_relation="part_of"} ! neural tube
@@ -125049,7 +125049,7 @@
id: UBERON:0001033
name: gustatory system
is_a: UBERON:0000467 ! anatomical system
-is_a: UBERON:0001032 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! sensory system
+is_a: UBERON:0001032 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! sensory system
intersection_of: UBERON:0000467 ! anatomical system
intersection_of: capable_of_part_of GO:0050912 ! detection of chemical stimulus involved in sensory perception of taste
relationship: capable_of_part_of GO:0050912 ! detection of chemical stimulus involved in sensory perception of taste
@@ -125117,7 +125117,7 @@
relationship: existence_starts_during_or_after HsapDv:0000016 {gci_filler="NCBITaxon:9606", gci_relation="part_of"} ! CS09 (human)
relationship: existence_starts_during_or_after MmusDv:0000021 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! Theiler stage 14 (mouse)
relationship: existence_starts_during_or_after XAO:1000036 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! NF stage 20 (Xenopus)
-relationship: part_of UBERON:0001007 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! digestive system
+relationship: part_of UBERON:0001007 {gci_filler="NCBITaxon:7227", gci_relation="part_of"} ! digestive system
[Term]
id: UBERON:0001042
@@ -125126,7 +125126,7 @@
is_a: MA:0000589 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! neck organ (Mus)
is_a: UBERON:0004185 ! endodermal part of digestive tract
is_a: UBERON:0006562 ! pharynx
-is_a: UBERON:0010314 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! structure with developmental contribution from neural crest
+is_a: UBERON:0010314 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! structure with developmental contribution from neural crest
relationship: continuous_with UBERON:0001043 {gci_filler="NCBITaxon:7742", gci_relation="part_of"} ! esophagus
relationship: develops_from UBERON:0008814 {gci_filler="NCBITaxon:9606", gci_relation="part_of"} ! pharyngeal arch system
relationship: develops_from UBERON:0009145 ! pharyngeal region of foregut
@@ -125142,7 +125142,7 @@
relationship: has_skeleton UBERON:0008895 {gci_filler="NCBITaxon:89593", gci_relation="part_of"} ! splanchnocranium
relationship: only_in_taxon NCBITaxon:7711 ! Chordata
relationship: part_of UBERON:0001004 ! respiratory system
-relationship: part_of UBERON:0001007 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! digestive system
+relationship: part_of UBERON:0001007 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! digestive system
[Term]
id: UBERON:0001043
@@ -125198,7 +125198,7 @@
relationship: existence_starts_during_or_after HsapDv:0000017 {gci_filler="NCBITaxon:9606", gci_relation="part_of"} ! Carnegie stage 10 (human)
relationship: existence_starts_during_or_after MmusDv:0000019 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! Theiler stage 12 (mouse)
relationship: existence_starts_during_or_after XAO:1000036 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! NF stage 20 (Xenopus)
-relationship: part_of UBERON:0001007 {gci_filler="NCBITaxon:7227", gci_relation="part_of"} ! digestive system
+relationship: part_of UBERON:0001007 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! digestive system
relationship: proximally_connected_to UBERON:0001041 ! foregut
[Term]
@@ -125650,7 +125650,7 @@
is_a: UBERON:0004121 ! ectoderm-derived structure
is_a: UBERON:0010313 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! neural crest-derived structure
is_a: UBERON:0010314 ! structure with developmental contribution from neural crest
-is_a: UBERON:0013765 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! digestive system element
+is_a: UBERON:0013765 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! digestive system element
relationship: develops_from UBERON:0000930 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! stomodeum
relationship: develops_from UBERON:0005087 ! tooth placode
relationship: existence_ends_during_or_before MmusDv:0000035 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! Theiler stage 26 (mouse)
@@ -126148,9 +126148,9 @@
relationship: existence_starts_during_or_after MmusDv:0000028 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! Theiler stage 21 (mouse)
relationship: existence_starts_during_or_after XAO:1000055 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! NF stage 43 (Xenopus)
relationship: has_developmental_contribution_from UBERON:0010025 {gci_filler="NCBITaxon:40674", gci_relation="part_of"} ! dorsal part of pharyngeal pouch 3
-relationship: has_developmental_contribution_from UBERON:0010026 {gci_filler="NCBITaxon:8342", gci_relation="part_of"} ! ventral part of pharyngeal pouch 3
+relationship: has_developmental_contribution_from UBERON:0010026 {gci_filler="NCBITaxon:8293", gci_relation="part_of"} ! ventral part of pharyngeal pouch 3
relationship: has_developmental_contribution_from UBERON:0010027 {gci_filler="NCBITaxon:40674", gci_relation="part_of"} ! dorsal part of pharyngeal pouch 4
-relationship: has_developmental_contribution_from UBERON:0010028 {gci_filler="NCBITaxon:8342", gci_relation="part_of"} ! ventral part of pharyngeal pouch 4
+relationship: has_developmental_contribution_from UBERON:0010028 {gci_filler="NCBITaxon:8293", gci_relation="part_of"} ! ventral part of pharyngeal pouch 4
relationship: only_in_taxon NCBITaxon:32523 ! Tetrapoda
relationship: part_of UBERON:0000949 ! endocrine system
@@ -126181,7 +126181,7 @@
id: UBERON:0001135
name: smooth muscle tissue
is_a: FBbt:00005070 {gci_filler="NCBITaxon:7227", gci_relation="part_of"} ! visceral muscle (Drosophila)
-is_a: UBERON:0001630 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! muscle organ
+is_a: UBERON:0001630 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! muscle organ
is_a: UBERON:0002385 ! muscle tissue
is_a: WBbt:0005780 {gci_filler="NCBITaxon:6237", gci_relation="part_of"} ! non-striated muscle (C elegans)
is_a: WBbt:0007810 {gci_filler="NCBITaxon:6237", gci_relation="part_of"} ! body muscle cell (C elegans)
@@ -126425,7 +126425,7 @@
[Term]
id: UBERON:0001155
name: colon
-is_a: UBERON:0004185 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! endodermal part of digestive tract
+is_a: UBERON:0004185 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! endodermal part of digestive tract
is_a: UBERON:0004921 ! subdivision of digestive tract
relationship: contributes_to_morphology_of UBERON:0000059 ! large intestine
relationship: develops_from ZFA:0005737 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! intestinal rod (Danio)
@@ -127898,7 +127898,7 @@
relationship: existence_ends_during_or_before ZFS:0000037 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! Larval:Day 5 (Danio)
relationship: existence_starts_during_or_after MmusDv:0000029 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! Theiler stage 22 (mouse)
relationship: existence_starts_during_or_after MmusDv:0000034 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! Theiler stage 25 (mouse)
-relationship: part_of UBERON:0001229 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! renal corpuscle
+relationship: part_of UBERON:0001229 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! renal corpuscle
relationship: part_of UBERON:0001230 ! glomerular capsule
relationship: part_of UBERON:0002120 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! pronephros
@@ -129750,7 +129750,7 @@
relationship: existence_starts_during_or_after XAO:1000057 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! NF stage 45 (Xenopus)
relationship: only_in_taxon NCBITaxon:7742 ! Vertebrata <Metazoa>
relationship: part_of UBERON:0001434 ! skeletal system
-relationship: part_of UBERON:0004288 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! skeleton
+relationship: part_of UBERON:0004288 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! skeleton
[Term]
id: UBERON:0001476
@@ -130928,7 +130928,7 @@
relationship: existence_starts_during_or_after HsapDv:0000024 {gci_filler="NCBITaxon:9606", gci_relation="part_of"} ! CS17 (human)
relationship: existence_starts_during_or_after MmusDv:0000028 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! Theiler stage 21 (mouse)
relationship: existence_starts_during_or_after XAO:1000047 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! NF stage 32 (Xenopus)
-relationship: part_of UBERON:0005725 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! olfactory system
+relationship: part_of UBERON:0005725 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! olfactory system
[Term]
id: UBERON:0001580
@@ -131474,7 +131474,7 @@
relationship: composed_primarily_of UBERON:0002385 ! muscle tissue
relationship: existence_ends_during_or_before UBERON:0000113 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! post-juvenile adult stage
relationship: existence_starts_during_or_after XAO:1000043 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! NF stage 27 (Xenopus)
-relationship: part_of UBERON:0000383 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! musculature of body
+relationship: part_of UBERON:0000383 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! musculature of body
relationship: part_of UBERON:0001015 ! musculature
[Term]
@@ -131864,7 +131864,7 @@
is_a: UBERON:0001638 ! vein
is_a: UBERON:0003496 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! head blood vessel
is_a: UBERON:0003499 ! brain blood vessel
-is_a: UBERON:0009141 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! craniocervical region vein
+is_a: UBERON:0009141 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! craniocervical region vein
is_a: UBERON:0010314 ! structure with developmental contribution from neural crest
relationship: existence_starts_during_or_after XAO:1000050 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! NF stage 37 and 38 (Xenopus)
relationship: part_of UBERON:0001893 ! telencephalon
@@ -131966,7 +131966,7 @@
is_a: UBERON:0001800 ! sensory ganglion
is_a: UBERON:0010313 ! neural crest-derived structure
relationship: develops_from EHDAA2:0001548 {gci_filler="NCBITaxon:9606", gci_relation="part_of"} ! pro-rhombomere a neural crest (human)
-relationship: develops_from UBERON:0003070 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! trigeminal placode
+relationship: develops_from UBERON:0003070 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! trigeminal placode
relationship: develops_from UBERON:0005563 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! trigeminal neural crest
relationship: existence_ends_during_or_before MmusDv:0000035 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! Theiler stage 26 (mouse)
relationship: existence_ends_during_or_before UBERON:0000113 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! post-juvenile adult stage
@@ -132395,7 +132395,7 @@
relationship: existence_ends_during_or_before UBERON:0000113 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! post-juvenile adult stage
relationship: existence_starts_during_or_after XAO:1000057 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! NF stage 45 (Xenopus)
relationship: part_of UBERON:0003128 ! cranium
-relationship: part_of UBERON:0010323 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! cranial skeletal system
+relationship: part_of UBERON:0010323 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! cranial skeletal system
[Term]
id: UBERON:0001705
@@ -132440,7 +132440,7 @@
relationship: existence_starts_during_or_after HsapDv:0000025 {gci_filler="NCBITaxon:9606", gci_relation="part_of"} ! Carnegie stage 18 (human)
relationship: existence_starts_during_or_after MmusDv:0000027 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! Theiler stage 20 (mouse)
relationship: existence_starts_during_or_after ZFS:0000030 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! Pharyngula:Prim-15 (Danio)
-relationship: part_of UBERON:0000004 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! olfactory apparatus
+relationship: part_of UBERON:0000004 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! olfactory apparatus
relationship: part_of UBERON:0001557 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! upper respiratory tract
relationship: part_of UBERON:0015788 ! olfactory apparatus chamber
@@ -132451,7 +132451,7 @@
is_a: UBERON:0004119 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! endoderm-derived structure
is_a: UBERON:0004120 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! mesoderm-derived structure
is_a: UBERON:0004121 ! ectoderm-derived structure
-is_a: UBERON:0010313 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! neural crest-derived structure
+is_a: UBERON:0010313 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! neural crest-derived structure
is_a: UBERON:0010314 ! structure with developmental contribution from neural crest
is_a: UBERON:0010912 ! subdivision of skeleton
relationship: capable_of NBO:0000073 ! chewing
@@ -132804,7 +132804,7 @@
relationship: existence_starts_during_or_after XAO:1000059 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! NF stage 47 (Xenopus)
relationship: innervated_by UBERON:0003716 ! recurrent laryngeal nerve
relationship: part_of UBERON:0000065 ! respiratory tract
-relationship: part_of UBERON:0001004 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! respiratory system
+relationship: part_of UBERON:0001004 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! respiratory system
[Term]
id: UBERON:0001738
@@ -132982,8 +132982,8 @@
id: UBERON:0001754
name: dental pulp
is_a: UBERON:0002050 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! embryonic structure
-is_a: UBERON:0003566 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! head connective tissue
-is_a: UBERON:0003570 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! respiratory system connective tissue
+is_a: UBERON:0003566 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! head connective tissue
+is_a: UBERON:0003570 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! respiratory system connective tissue
is_a: UBERON:0004119 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! endoderm-derived structure
is_a: UBERON:0004120 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! mesoderm-derived structure
is_a: UBERON:0010313 ! neural crest-derived structure
@@ -133148,7 +133148,7 @@
relationship: existence_starts_during_or_after MmusDv:0000034 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! Theiler stage 25 (mouse)
relationship: existence_starts_during_or_after XAO:1000048 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! NF stage 33 and 34 (Xenopus)
relationship: part_of UBERON:0000019 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! camera-type eye
-relationship: part_of UBERON:0001801 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! anterior segment of eyeball
+relationship: part_of UBERON:0001801 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! anterior segment of eyeball
relationship: part_of UBERON:0011892 ! anterior uvea
relationship: part_of XAO:0004529 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! uveal tract (Xenopus)
@@ -133168,7 +133168,7 @@
relationship: existence_ends_during_or_before UBERON:0000071 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! death stage
relationship: existence_ends_during_or_before UBERON:0000113 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! post-juvenile adult stage
relationship: existence_starts_during_or_after XAO:1000049 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! NF stage 35 and 36 (Xenopus)
-relationship: part_of UBERON:0000019 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! camera-type eye
+relationship: part_of UBERON:0000019 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! camera-type eye
relationship: part_of UBERON:0001769 ! iris
[Term]
@@ -133210,7 +133210,7 @@
id: UBERON:0001774
name: skeletal muscle of trunk
is_a: UBERON:0001015 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! musculature
-is_a: UBERON:0004479 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! musculature of trunk
+is_a: UBERON:0004479 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! musculature of trunk
is_a: UBERON:0005177 ! trunk region element
is_a: UBERON:0014892 ! skeletal muscle organ
is_a: UBERON:0018254 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! skeletal musculature
@@ -133353,7 +133353,7 @@
name: cranial nerve
is_a: UBERON:0001021 ! nerve
is_a: UBERON:0010314 ! structure with developmental contribution from neural crest
-is_a: UBERON:0011779 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! nerve of head region
+is_a: UBERON:0011779 {gci_filler="NCBITaxon:8353", gci_relation="part_of"} ! nerve of head region
is_a: UBERON:0015212 ! lateral structure
relationship: continuous_with UBERON:0000955 ! brain
relationship: existence_ends_during_or_before MmusDv:0000035 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! Theiler stage 26 (mouse)
@@ -133544,7 +133544,7 @@
is_a: UBERON:0004121 ! ectoderm-derived structure
relationship: contributes_to_morphology_of UBERON:0000019 ! camera-type eye
relationship: existence_ends_during_or_before UBERON:0000113 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! post-juvenile adult stage
-relationship: part_of UBERON:0000019 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! camera-type eye
+relationship: part_of UBERON:0000019 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! camera-type eye
relationship: part_of UBERON:0010230 ! eyeball of camera-type eye
[Term]
@@ -133554,7 +133554,7 @@
is_a: UBERON:0004121 ! ectoderm-derived structure
relationship: contributes_to_morphology_of UBERON:0000019 ! camera-type eye
relationship: existence_ends_during_or_before UBERON:0000113 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! post-juvenile adult stage
-relationship: part_of UBERON:0000019 {gci_filler="NCBITaxon:7954", gci_relation="part_of"} ! camera-type eye
+relationship: part_of UBERON:0000019 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! camera-type eye
relationship: part_of UBERON:0010230 ! eyeball of camera-type eye
[Term]
@@ -133590,7 +133590,7 @@
relationship: existence_starts_during_or_after HsapDv:0000026 {gci_filler="NCBITaxon:9606", gci_relation="part_of"} ! Carnegie stage 19 (human)
relationship: existence_starts_during_or_after MmusDv:0000029 {gci_filler="NCBITaxon:10090", gci_relation="part_of"} ! Theile...
[truncated message content] |
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