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From: <pr...@us...> - 2015-02-01 06:56:19
|
Revision: 5288
http://sourceforge.net/p/obo/svn/5288
Author: probins
Date: 2015-02-01 06:56:09 +0000 (Sun, 01 Feb 2015)
Log Message:
-----------
Removing entry MIM-108345 because it is not a disease
Removed Paths:
-------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108345.tab
Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108345.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108345.tab 2015-01-31 14:48:08 UTC (rev 5287)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108345.tab 2015-02-01 06:56:09 UTC (rev 5288)
@@ -1,3 +0,0 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:108345 N-ACETYLTRANSFERASE 1 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:108345 HPO 17.02.2009
-OMIM:108345 N-ACETYLTRANSFERASE 1 HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:108345 HPO 17.02.2009
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <pr...@us...> - 2015-01-31 14:48:17
|
Revision: 5287
http://sourceforge.net/p/obo/svn/5287
Author: probins
Date: 2015-01-31 14:48:08 +0000 (Sat, 31 Jan 2015)
Log Message:
-----------
Revising some annotations
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102200.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102730.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102900.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-105650.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-232800.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-270450.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615550.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615909.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102200.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102200.tab 2015-01-31 09:10:30 UTC (rev 5286)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102200.tab 2015-01-31 14:48:08 UTC (rev 5287)
@@ -1,14 +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:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:102200 HPO:probinson Feb 17, 2009
-OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0000280 Coarse facial features IEA IEA OMIM:102200 HPO Feb 17, 2009
-OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0000822 Hypertension IEA IEA OMIM:102200 HPO Feb 17, 2009
+OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0000280 Coarse facial features TAS TAS OMIM:102200 HPO:probinson Feb 17, 2009
+OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0000822 Hypertension TAS TAS OMIM:102200 HPO:probinson Feb 17, 2009
OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0000845 Growth hormone excess TAS TAS OMIM:102200 HPO:probinson Feb 17, 2009
-OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0000858 Menstrual irregularities IEA IEA OMIM:102200 HPO Feb 17, 2009
+OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0000858 Menstrual irregularities TAS TAS OMIM:102200 HPO:probinson Feb 17, 2009
OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0001428 Somatic mutation TAS TAS OMIM:102200 HPO:probinson Feb 17, 2009
-OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0001638 Cardiomyopathy IEA IEA OMIM:102200 HPO Feb 17, 2009
-OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0001712 Left ventricular hypertrophy IEA IEA OMIM:102200 HPO Feb 17, 2009
+OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0001638 Cardiomyopathy TAS TAS OMIM:102200 HPO:probinson Feb 17, 2009
+OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0001712 Left ventricular hypertrophy TAS TAS OMIM:102200 HPO:probinson Feb 17, 2009
OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0002893 Pituitary adenoma IEA IEA OMIM:102200 HPO:skoehler Jun 18, 2010
OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0006767 Pituitary prolactin cell adenoma TAS TAS OMIM:102200 HPO:skoehler Feb 17, 2009
-OMIM:102200 #102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING;;SOMATOTROPINOMA, FAMILIAL ISOLATED; FIS;;ISOLATED FAMILIAL SOMATOTROPINOMA; IFS;;SOMATOTROPHINOMA, FAMILIAL;;ACROMEGALY DUE TO PITUITARY ADENOMAPITUITARY ADENOMA PREDISPOSITION, INCLUDED; PAP, INCLUDED;;PITUITARY ADENOMA, FAMILIAL ISOLATED, INCLUDED; FIPA, INCLUDED;;SOMATOSTATIN ANALOG, RESISTANCE TO, INCLUDED HP:0100829 Galactorrhea IEA IEA OMIM-CS:CHEST_BREASTS > GALACTORRHEA FROM INCREASED SERUM PROLACTIN OMIM:102200 HPO:skoehler Jun 24, 2014
+OMIM:102200 #102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING;;SOMATOTROPINOMA, FAMILIAL ISOLATED; FIS;;ISOLATED FAMILIAL SOMATOTROPINOMA; IFS;;SOMATOTROPHINOMA, FAMILIAL;;ACROMEGALY DUE TO PITUITARY ADENOMAPITUITARY ADENOMA PREDISPOSITION, INCLUDED; PAP, INCLUDED;;PITUITARY ADENOMA, FAMILIAL ISOLATED, INCLUDED; FIPA, INCLUDED;;SOMATOSTATIN ANALOG, RESISTANCE TO, INCLUDED HP:0100829 Galactorrhea TAS TAS OMIM-CS:CHEST_BREASTS > GALACTORRHEA FROM INCREASED SERUM PROLACTIN OMIM:102200 HPO:skoehler Jun 24, 2014
OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0000870 Prolactin excess TAS TAS OMIM:102200 HPO:probinson Jan 31, 2015
OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0100829 Galactorrhea TAS TAS OMIM:102200 HPO:probinson Jan 31, 2015
+OMIM:102200 #102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING;;SOMATOTROPINOMA, FAMILIAL ISOLATED; FIS;;ISOLATED FAMILIAL SOMATOTROPINOMA; IFS;;SOMATOTROPHINOMA, FAMILIAL;;ACROMEGALY DUE TO PITUITARY ADENOMAPITUITARY ADENOMA PREDISPOSITION, INCLUDED; PAP, INCLUDED;;PITUITARY ADENOMA, FAMILIAL ISOLATED, INCLUDED; FIPA, INCLUDED;;SOMATOSTATIN ANALOG, RESISTANCE TO, INCLUDED HP:0030269 Increased serum Insulin-like growth factor 1 TAS TAS OMIM:102200 HPO:probinson Jan 31, 2015
+OMIM:102200 #102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING;;SOMATOTROPINOMA, FAMILIAL ISOLATED; FIS;;ISOLATED FAMILIAL SOMATOTROPINOMA; IFS;;SOMATOTROPHINOMA, FAMILIAL;;ACROMEGALY DUE TO PITUITARY ADENOMAPITUITARY ADENOMA PREDISPOSITION, INCLUDED; PAP, INCLUDED;;PITUITARY ADENOMA, FAMILIAL ISOLATED, INCLUDED; FIPA, INCLUDED;;SOMATOSTATIN ANALOG, RESISTANCE TO, INCLUDED HP:0011760 Pituitary growth hormone cell adenoma TAS TAS OMIM:102200 HPO:probinson Jan 31, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102730.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102730.tab 2015-01-31 09:10:30 UTC (rev 5286)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102730.tab 2015-01-31 14:48:08 UTC (rev 5287)
@@ -4,3 +4,4 @@
OMIM:102730 ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO HP:0004446 Stomatocytosis TAS TAS OMIM:102730 HPO:probinson Feb 17, 2009
OMIM:102730 ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO HP:0004823 Anisopoikilocytosis TAS TAS OMIM:102730 HPO:probinson Feb 17, 2009
OMIM:102730 ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO HP:0002149 Hyperuricemia TAS TAS Mild OMIM:102730 HPO:probinson Jan 31, 2015
+OMIM:102730 ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO HP:0030270 Elevated red cell adenosine deaminase activity TAS TAS OMIM:102730 HPO:probinson Jan 31, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102900.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102900.tab 2015-01-31 09:10:30 UTC (rev 5286)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102900.tab 2015-01-31 14:48:08 UTC (rev 5287)
@@ -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:102900 ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:102900 HPO:probinson Feb 17, 2009
OMIM:102900 ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES HP:0001901 Polycythemia TAS TAS OMIM:102900 HPO:probinson Feb 17, 2009
+OMIM:102900 ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES HP:0030271 Reduced erythrocyte 2,3-diphosphoglycerate concentration TAS TAS OMIM:102900 HPO:probinson Jan 31, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-105650.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-105650.tab 2015-01-31 09:10:30 UTC (rev 5286)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-105650.tab 2015-01-31 14:48:08 UTC (rev 5287)
@@ -1,46 +1,47 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset 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:105650 DIAMOND-BLACKFAN ANEMIA HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:105650 HPO 17.02.2009
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0000156 High-arched palate IEA IEA OMIM:105650 HPO:skoehler 18.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0000175 Cleft palate IEA IEA OMIM:105650 HPO:skoehler 18.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0000204 Cleft upper lip IEA IEA OMIM:105650 HPO:skoehler 18.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0000252 Microcephaly IEA IEA OMIM:105650 HPO:skoehler 18.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0000270 Delayed cranial suture closure IEA IEA OMIM:105650 HPO:skoehler 18.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0000278 Retrognathia IEA IEA OMIM:105650 HPO:skoehler 18.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0000316 Hypertelorism IEA IEA OMIM:105650 HPO:skoehler 18.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0000347 Micrognathia IEA IEA OMIM:105650 HPO:skoehler 18.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0000457 Flat nose IEA IEA OMIM:105650 HPO:skoehler 18.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0000465 Webbed neck IEA IEA OMIM:105650 HPO:skoehler 18.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0000470 Short neck IEA IEA OMIM:105650 HPO:skoehler 18.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0000486 Strabismus IEA IEA OMIM:105650 HPO:skoehler 18.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0000494 Downslanted palpebral fissures IEA IEA OMIM:105650 HPO:skoehler 18.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0000774 Narrow chest IEA IEA OMIM:105650 HPO:skoehler 18.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0000878 11 pairs of ribs IEA IEA OMIM:105650 HPO:skoehler 18.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0000946 Hypoplastic ilia IEA IEA OMIM:105650 HPO:skoehler 18.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0000980 Pallor IEA IEA OMIM:105650 HPO:skoehler 18.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0001199 Triphalangeal thumb IEA IEA OMIM:105650 HPO:skoehler 18.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0001249 Intellectual disability IEA IEA rare OMIM:105650 HPO:skoehler 20.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0001508 Failure to thrive IEA IEA OMIM:105650 HPO:skoehler 18.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0001511 Intrauterine growth retardation TAS TAS Mild OMIM:105650 HPO:probinson 20.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0001622 Premature birth IEA IEA OMIM:105650 HPO:skoehler 18.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0001629 Ventricular septal defect IEA IEA OMIM:105650 HPO:skoehler 18.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0001631 Defect in the atrial septum IEA IEA OMIM:105650 HPO:skoehler 18.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0001635 Congestive heart failure IEA IEA OMIM:105650 HPO 17.02.2009
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0001680 Coarctation of aorta IEA IEA OMIM:105650 HPO:skoehler 18.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0001873 Thrombocytopenia IEA IEA OMIM:105650 HPO:skoehler 18.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0001875 Neutropenia IEA IEA OMIM:105650 HPO:skoehler 20.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0001894 Thrombocytosis IEA IEA OMIM:105650 HPO:skoehler 18.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0001896 Reticulocytopenia IEA IEA OMIM:105650 HPO 17.02.2009
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0002669 Osteosarcoma IEA IEA OMIM:105650 HPO:skoehler 18.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0002697 Parietal foramina IEA IEA OMIM:105650 HPO:skoehler 18.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0003003 Colon cancer IEA IEA OMIM:105650 HPO:skoehler 18.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0003593 Infantile onset IEA IEA OMIM:105650 HPO:skoehler 19.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0004322 Short stature IEA IEA OMIM:105650 HPO:skoehler 18.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0004810 Congenital hypoplastic anemia IEA IEA OMIM:105650 HPO 17.02.2009
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0006730 Myelodysplastic syndrome IEA IEA OMIM:105650 HPO:skoehler 18.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0008437 Bifid thoracic vertebrae IEA IEA OMIM:105650 HPO:skoehler 18.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0008447 Hypoplastic coccygeal vertebrae IEA IEA OMIM:105650 HPO:skoehler 18.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0008475 Hypoplastic sacral vertebrae IEA IEA OMIM:105650 HPO:skoehler 18.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0009777 Absent thumb IEA IEA OMIM:105650 HPO:skoehler 18.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0009778 Hypoplastic/small thumb IEA IEA OMIM:105650 HPO:skoehler 18.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0009944 Partial duplication of the phalanges of the thumb IEA IEA OMIM:105650 HPO:skoehler 20.06.2010
-OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0002984 Hypoplasia of the radius TAS TAS Mild OMIM:105650 HPO:probinson 05.05.2012
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:105650 HPO Feb 17, 2009
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0000156 High-arched palate IEA IEA OMIM:105650 HPO:skoehler Jun 18, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0000175 Cleft palate IEA IEA OMIM:105650 HPO:skoehler Jun 18, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0000204 Cleft upper lip IEA IEA OMIM:105650 HPO:skoehler Jun 18, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0000252 Microcephaly IEA IEA OMIM:105650 HPO:skoehler Jun 18, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0000270 Delayed cranial suture closure IEA IEA OMIM:105650 HPO:skoehler Jun 18, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0000278 Retrognathia IEA IEA OMIM:105650 HPO:skoehler Jun 18, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0000316 Hypertelorism IEA IEA OMIM:105650 HPO:skoehler Jun 18, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0000347 Micrognathia IEA IEA OMIM:105650 HPO:skoehler Jun 18, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0000457 Depressed nasal ridge IEA IEA OMIM:105650 HPO:skoehler Jun 18, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0000465 Webbed neck IEA IEA OMIM:105650 HPO:skoehler Jun 18, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0000470 Short neck IEA IEA OMIM:105650 HPO:skoehler Jun 18, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0000486 Strabismus IEA IEA OMIM:105650 HPO:skoehler Jun 18, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0000494 Downslanted palpebral fissures IEA IEA OMIM:105650 HPO:skoehler Jun 18, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0000774 Narrow chest IEA IEA OMIM:105650 HPO:skoehler Jun 18, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0000878 11 pairs of ribs IEA IEA OMIM:105650 HPO:skoehler Jun 18, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0000946 Hypoplastic ilia IEA IEA OMIM:105650 HPO:skoehler Jun 18, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0000980 Pallor IEA IEA OMIM:105650 HPO:skoehler Jun 18, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0001199 Triphalangeal thumb IEA IEA OMIM:105650 HPO:skoehler Jun 18, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0001249 Intellectual disability IEA IEA rare OMIM:105650 HPO:skoehler Jun 20, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0001508 Failure to thrive IEA IEA OMIM:105650 HPO:skoehler Jun 18, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0001511 Intrauterine growth retardation TAS TAS Mild OMIM:105650 HPO:probinson Jun 20, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0001622 Premature birth IEA IEA OMIM:105650 HPO:skoehler Jun 18, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0001629 Ventricular septal defect IEA IEA OMIM:105650 HPO:skoehler Jun 18, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0001631 Defect in the atrial septum IEA IEA OMIM:105650 HPO:skoehler Jun 18, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0001635 Congestive heart failure IEA IEA OMIM:105650 HPO Feb 17, 2009
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0001680 Coarctation of aorta IEA IEA OMIM:105650 HPO:skoehler Jun 18, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0001873 Thrombocytopenia IEA IEA OMIM:105650 HPO:skoehler Jun 18, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0001875 Neutropenia IEA IEA OMIM:105650 HPO:skoehler Jun 20, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0001894 Thrombocytosis IEA IEA OMIM:105650 HPO:skoehler Jun 18, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0001896 Reticulocytopenia TAS TAS OMIM:105650 HPO:probinson Feb 17, 2009
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0002669 Osteosarcoma IEA IEA OMIM:105650 HPO:skoehler Jun 18, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0002697 Parietal foramina IEA IEA OMIM:105650 HPO:skoehler Jun 18, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0003003 Colon cancer IEA IEA OMIM:105650 HPO:skoehler Jun 18, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0003593 Infantile onset IEA IEA OMIM:105650 HPO:skoehler Jun 19, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0004322 Short stature IEA IEA OMIM:105650 HPO:skoehler Jun 18, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0004810 Congenital hypoplastic anemia TAS TAS OMIM:105650 HPO:probinson Feb 17, 2009
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0006730 Myelodysplastic syndrome IEA IEA OMIM:105650 HPO:skoehler Jun 18, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0008437 Bifid thoracic vertebrae IEA IEA OMIM:105650 HPO:skoehler Jun 18, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0008447 Hypoplastic coccygeal vertebrae IEA IEA OMIM:105650 HPO:skoehler Jun 18, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0008475 Hypoplastic sacral vertebrae IEA IEA OMIM:105650 HPO:skoehler Jun 18, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0009777 Absent thumb IEA IEA OMIM:105650 HPO:skoehler Jun 18, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0009778 Short thumb IEA IEA OMIM:105650 HPO:skoehler Jun 18, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0009944 Partial duplication of thumb phalanx IEA IEA OMIM:105650 HPO:skoehler Jun 20, 2010
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0002984 Hypoplasia of the radius TAS TAS Mild OMIM:105650 HPO:probinson May 5, 2012
+OMIM:105650 DIAMOND-BLACKFAN ANEMIA HP:0030270 Elevated red cell adenosine deaminase activity TAS TAS OMIM:105650 HPO:probinson Jan 31, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-232800.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-232800.tab 2015-01-31 09:10:30 UTC (rev 5286)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-232800.tab 2015-01-31 14:48:08 UTC (rev 5287)
@@ -1,15 +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:232800 GLYCOGEN STORAGE DISEASE VII HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:232800 HPO Feb 17, 2009
+OMIM:232800 GLYCOGEN STORAGE DISEASE VII HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:232800 HPO:probinson Feb 17, 2009
OMIM:232800 GLYCOGEN STORAGE DISEASE VII HP:0000952 Jaundice TAS TAS OMIM:232800 HPO:skoehler Feb 17, 2009
OMIM:232800 GLYCOGEN STORAGE DISEASE VII HP:0001081 Cholelithiasis TAS TAS OMIM:232800 HPO:skoehler Feb 17, 2009
-OMIM:232800 GLYCOGEN STORAGE DISEASE VII HP:0001324 Muscle weakness IEA IEA OMIM:232800 HPO Feb 17, 2009
-OMIM:232800 GLYCOGEN STORAGE DISEASE VII HP:0001878 Hemolytic anemia IEA IEA OMIM:232800 HPO Feb 17, 2009
-OMIM:232800 GLYCOGEN STORAGE DISEASE VII HP:0001923 Reticulocytosis IEA IEA OMIM:232800 HPO Feb 17, 2009
+OMIM:232800 GLYCOGEN STORAGE DISEASE VII HP:0001324 Muscle weakness TAS TAS OMIM:232800 HPO:probinson Feb 17, 2009
+OMIM:232800 GLYCOGEN STORAGE DISEASE VII HP:0001878 Hemolytic anemia TAS TAS OMIM:232800 HPO:probinson Feb 17, 2009
+OMIM:232800 GLYCOGEN STORAGE DISEASE VII HP:0001923 Reticulocytosis TAS TAS OMIM:232800 HPO:probinson Feb 17, 2009
OMIM:232800 GLYCOGEN STORAGE DISEASE VII HP:0001997 Gout TAS TAS OMIM:232800 HPO:skoehler Feb 17, 2009
-OMIM:232800 GLYCOGEN STORAGE DISEASE VII HP:0002149 Hyperuricemia IEA IEA OMIM:232800 HPO Feb 17, 2009
-OMIM:232800 GLYCOGEN STORAGE DISEASE VII HP:0003546 Exercise intolerance IEA IEA OMIM:232800 HPO Feb 17, 2009
-OMIM:232800 GLYCOGEN STORAGE DISEASE VII HP:0003573 Increased total bilirubin IEA IEA OMIM:232800 HPO Feb 17, 2009
-OMIM:232800 GLYCOGEN STORAGE DISEASE VII HP:0003710 Exercise-induced muscle cramps IEA IEA OMIM:232800 HPO Feb 17, 2009
-OMIM:232800 GLYCOGEN STORAGE DISEASE VII HP:0009051 Increased muscle glycogen content IEA IEA OMIM:232800 HPO Feb 17, 2009
+OMIM:232800 GLYCOGEN STORAGE DISEASE VII HP:0002149 Hyperuricemia TAS TAS OMIM:232800 HPO:probinson Feb 17, 2009
+OMIM:232800 GLYCOGEN STORAGE DISEASE VII HP:0003546 Exercise intolerance TAS TAS OMIM:232800 HPO:probinson Feb 17, 2009
+OMIM:232800 GLYCOGEN STORAGE DISEASE VII HP:0003573 Increased total bilirubin TAS TAS OMIM:232800 HPO:probinson Feb 17, 2009
+OMIM:232800 GLYCOGEN STORAGE DISEASE VII HP:0003710 Exercise-induced muscle cramps TAS TAS OMIM:232800 HPO:probinson Feb 17, 2009
+OMIM:232800 GLYCOGEN STORAGE DISEASE VII HP:0009051 Increased muscle glycogen content TAS TAS OMIM:232800 HPO:probinson Feb 17, 2009
OMIM:232800 GLYCOGEN STORAGE DISEASE VII HP:0008305 Exercise-induced myoglobinuria TAS TAS OMIM:232800 HPO:probinson Dec 15, 2013
-OMIM:232800 #232800 GLYCOGEN STORAGE DISEASE VII;;GSD VII; GSD7;;MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY;;PFKM DEFICIENCY;;TARUI DISEASE HP:0003828 Variable expressivity IEA IEA OMIM-CS:MISCELLANEOUS > VARIABLE SEVERITY OMIM:232800 HPO:skoehler 28.01.2014
+OMIM:232800 #232800 GLYCOGEN STORAGE DISEASE VII;;GSD VII; GSD7;;MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY;;PFKM DEFICIENCY;;TARUI DISEASE HP:0003828 Variable expressivity IEA IEA OMIM-CS:MISCELLANEOUS > VARIABLE SEVERITY OMIM:232800 HPO:skoehler Jan 28, 2014
+OMIM:232800 GLYCOGEN STORAGE DISEASE VII HP:0030271 Reduced erythrocyte 2,3-diphosphoglycerate concentration TAS TAS OMIM:232800 HPO:probinson Jan 31, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-270450.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-270450.tab 2015-01-31 09:10:30 UTC (rev 5286)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-270450.tab 2015-01-31 14:48:08 UTC (rev 5287)
@@ -1,24 +1,24 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:270450 HPO 17.02.2009
-OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:270450 HPO 17.02.2009
-OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0000219 Thin upper lip vermilion IEA IEA OMIM:270450 HPO 17.02.2009
-OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0000252 Microcephaly IEA IEA OMIM:270450 HPO 17.02.2009
-OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0000431 Broad nasal bridge IEA IEA OMIM:270450 HPO 17.02.2009
-OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0000713 Agitation IEA IEA OMIM:270450 HPO 17.02.2009
-OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0000739 Anxiety TAS TAS OMIM:270450 HPO:probinson 17.02.2009
-OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0000750 Delayed speech and language development IEA IEA OMIM:270450 HPO 17.02.2009
-OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0000767 Pectus excavatum IEA IEA OMIM:270450 HPO 17.02.2009
-OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0001270 Motor delay IEA IEA OMIM:270450 HPO 17.02.2009
-OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0001511 Intrauterine growth retardation IEA IEA OMIM:270450 HPO 17.02.2009
-OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0001547 Abnormality of the morphology or size of the rib cage IEA IEA OMIM:270450 HPO 17.02.2009
-OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:270450 HPO 17.02.2009
-OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0001999 Abnormal facial shape IEA IEA OMIM:270450 HPO 17.02.2009
-OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0002750 Delayed skeletal maturation IEA IEA OMIM:270450 HPO 17.02.2009
-OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0003577 Congenital onset IEA IEA OMIM:270450 HPO 17.02.2009
-OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0004322 Short stature IEA IEA OMIM:270450 HPO 17.02.2009
-OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0004325 Decreased body weight IEA IEA OMIM:270450 HPO 17.02.2009
-OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0009466 Radial deviation of finger IEA IEA OMIM:270450 HPO 17.02.2009
-OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0000319 Smooth philtrum TAS TAS OMIM:270450 HPO:probinson 01.05.2012
-OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0000343 Long philtrum TAS TAS OMIM:270450 HPO:probinson 01.05.2012
-OMIM:270450 #270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO;;SOMATOMEDIN, END-ORGAN INSENSITIVITY TO;;SOMATOMEDIN-C, RESISTANCE TO;;IGF-I RESISTANCEINSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DUE TO INCREASED BINDINGPROTEIN, INCLUDED HP:0200086 Thin upper lip IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > THIN UPPER LIP OMIM:270450 HPO:skoehler 04.06.2013
-OMIM:270450 #270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO;;SOMATOMEDIN, END-ORGAN INSENSITIVITY TO;;SOMATOMEDIN-C, RESISTANCE TO;;IGF-I RESISTANCEINSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DUE TO INCREASED BINDINGPROTEIN, INCLUDED HP:0030084 Clinodactyly IEA IEA OMIM-CS:SKELETAL_HANDS > CLINODACTYLY OMIM:270450 HPO:skoehler 21.09.2014
+OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:270450 HPO Feb 17, 2009
+OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:270450 HPO Feb 17, 2009
+OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0000219 Thin upper lip vermilion IEA IEA OMIM:270450 HPO Feb 17, 2009
+OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0000252 Microcephaly IEA IEA OMIM:270450 HPO Feb 17, 2009
+OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0000431 Wide nasal bridge IEA IEA OMIM:270450 HPO Feb 17, 2009
+OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0000713 Agitation IEA IEA OMIM:270450 HPO Feb 17, 2009
+OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0000739 Anxiety TAS TAS OMIM:270450 HPO:probinson Feb 17, 2009
+OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0000750 Delayed speech and language development IEA IEA OMIM:270450 HPO Feb 17, 2009
+OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0000767 Pectus excavatum IEA IEA OMIM:270450 HPO Feb 17, 2009
+OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0001270 Motor delay IEA IEA OMIM:270450 HPO Feb 17, 2009
+OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0001511 Intrauterine growth retardation IEA IEA OMIM:270450 HPO Feb 17, 2009
+OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0001547 Abnormality of the rib cage IEA IEA OMIM:270450 HPO Feb 17, 2009
+OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0001999 Abnormal facial shape IEA IEA OMIM:270450 HPO Feb 17, 2009
+OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0002750 Delayed skeletal maturation IEA IEA OMIM:270450 HPO Feb 17, 2009
+OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0003577 Congenital onset IEA IEA OMIM:270450 HPO Feb 17, 2009
+OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0004322 Short stature IEA IEA OMIM:270450 HPO Feb 17, 2009
+OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0004325 Decreased body weight IEA IEA OMIM:270450 HPO Feb 17, 2009
+OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0009466 Radial deviation of finger IEA IEA OMIM:270450 HPO Feb 17, 2009
+OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0000319 Smooth philtrum TAS TAS OMIM:270450 HPO:probinson May 1, 2012
+OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0000343 Long philtrum TAS TAS OMIM:270450 HPO:probinson May 1, 2012
+OMIM:270450 #270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO;;SOMATOMEDIN, END-ORGAN INSENSITIVITY TO;;SOMATOMEDIN-C, RESISTANCE TO;;IGF-I RESISTANCEINSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DUE TO INCREASED BINDINGPROTEIN, INCLUDED HP:0200086 Thin upper lip IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > THIN UPPER LIP OMIM:270450 HPO:skoehler Jun 4, 2013
+OMIM:270450 #270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO;;SOMATOMEDIN, END-ORGAN INSENSITIVITY TO;;SOMATOMEDIN-C, RESISTANCE TO;;IGF-I RESISTANCEINSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DUE TO INCREASED BINDINGPROTEIN, INCLUDED HP:0030084 Clinodactyly IEA IEA OMIM-CS:SKELETAL_HANDS > CLINODACTYLY OMIM:270450 HPO:skoehler Sep 21, 2014
+OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO HP:0030269 Increased serum Insulin-like growth factor 1 TAS TAS OMIM:270450 HPO:probinson Jan 31, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615550.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615550.tab 2015-01-31 09:10:30 UTC (rev 5286)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615550.tab 2015-01-31 14:48:08 UTC (rev 5287)
@@ -1,7 +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:615550 #615550 DIAMOND-BLACKFAN ANEMIA 12; DBA12 HP:0001629 Ventricular septal defect IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > VENTRICULAR SEPTAL DEFECT OMIM:615550 HPO:skoehler 28.01.2014
-OMIM:615550 #615550 DIAMOND-BLACKFAN ANEMIA 12; DBA12 HP:0001972 Macrocytic anemia IEA IEA OMIM-CS:HEMATOLOGY > MACROCYTIC ANEMIA OMIM:615550 HPO:skoehler 28.01.2014
-OMIM:615550 #615550 DIAMOND-BLACKFAN ANEMIA 12; DBA12 HP:0001895 Normochromic anemia IEA IEA OMIM-CS:HEMATOLOGY > NORMOCHROMIC ANEMIA OMIM:615550 HPO:skoehler 28.01.2014
-OMIM:615550 #615550 DIAMOND-BLACKFAN ANEMIA 12; DBA12 HP:0001896 Reticulocytopenia IEA IEA OMIM-CS:HEMATOLOGY > RETICULOCYTOPENIA OMIM:615550 HPO:skoehler 28.01.2014
-OMIM:615550 #615550 DIAMOND-BLACKFAN ANEMIA 12; DBA12 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT OMIM:615550 HPO:skoehler 28.01.2014
-OMIM:615550 #615550 DIAMOND-BLACKFAN ANEMIA 12; DBA12 HP:0001199 Triphalangeal thumb IEA IEA OMIM-CS:SKELETAL_HANDS > TRIPHALANGEAL THUMBS OMIM:615550 HPO:skoehler 28.01.2014
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset 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:615550 #615550 DIAMOND-BLACKFAN ANEMIA 12; DBA12 HP:0001629 Ventricular septal defect TAS TAS OMIM-CS:CARDIOVASCULAR_HEART > VENTRICULAR SEPTAL DEFECT OMIM:615550 HPO:skoehler Jan 28, 2014
+OMIM:615550 #615550 DIAMOND-BLACKFAN ANEMIA 12; DBA12 HP:0001972 Macrocytic anemia TAS TAS OMIM-CS:HEMATOLOGY > MACROCYTIC ANEMIA OMIM:615550 HPO:skoehler Jan 28, 2014
+OMIM:615550 #615550 DIAMOND-BLACKFAN ANEMIA 12; DBA12 HP:0001895 Normochromic anemia TAS TAS OMIM-CS:HEMATOLOGY > NORMOCHROMIC ANEMIA OMIM:615550 HPO:skoehler Jan 28, 2014
+OMIM:615550 #615550 DIAMOND-BLACKFAN ANEMIA 12; DBA12 HP:0001896 Reticulocytopenia TAS TAS OMIM-CS:HEMATOLOGY > RETICULOCYTOPENIA OMIM:615550 HPO:skoehler Jan 28, 2014
+OMIM:615550 #615550 DIAMOND-BLACKFAN ANEMIA 12; DBA12 HP:0000006 Autosomal dominant inheritance TAS TAS OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT OMIM:615550 HPO:skoehler Jan 28, 2014
+OMIM:615550 #615550 DIAMOND-BLACKFAN ANEMIA 12; DBA12 HP:0001199 Triphalangeal thumb TAS TAS OMIM-CS:SKELETAL_HANDS > TRIPHALANGEAL THUMBS OMIM:615550 HPO:skoehler Jan 28, 2014
+OMIM:615550 #615550 DIAMOND-BLACKFAN ANEMIA 12; DBA12 HP:0030270 Elevated red cell adenosine deaminase activity TAS TAS OMIM:615550 HPO:probinson Jan 31, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615909.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615909.tab 2015-01-31 09:10:30 UTC (rev 5286)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615909.tab 2015-01-31 14:48:08 UTC (rev 5287)
@@ -1,2 +1,6 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:615909 #615909 DIAMOND-BLACKFAN ANEMIA 13; DBA13 HP:0001897 Normocytic anemia IEA IEA OMIM-CS:HEMATOLOGY > NORMOCYTIC ANEMIA OMIM:615909 HPO:skoehler 24.08.2014
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset 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:615909 #615909 DIAMOND-BLACKFAN ANEMIA 13; DBA13 HP:0001897 Normocytic anemia TAS TAS OMIM-CS:HEMATOLOGY > NORMOCYTIC ANEMIA OMIM:615909 HPO:skoehler Aug 24, 2014
+OMIM:615909 #615909 DIAMOND-BLACKFAN ANEMIA 13; DBA13 HP:0030270 Elevated red cell adenosine deaminase activity TAS TAS OMIM:615909 HPO:probinson Jan 31, 2015
+OMIM:615909 #615909 DIAMOND-BLACKFAN ANEMIA 13; DBA13 HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:615909 HPO:probinson Jan 31, 2015
+OMIM:615909 #615909 DIAMOND-BLACKFAN ANEMIA 13; DBA13 HP:0011463 Childhood onset TAS TAS OMIM:615909 HPO:probinson Jan 31, 2015
+OMIM:615909 #615909 DIAMOND-BLACKFAN ANEMIA 13; DBA13 HP:0001999 Abnormal facial shape TAS TAS NOT NOT OMIM:615909 HPO:probinson Jan 31, 2015
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From: <pr...@us...> - 2015-01-31 09:10:33
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Revision: 5286
http://sourceforge.net/p/obo/svn/5286
Author: probins
Date: 2015-01-31 09:10:30 +0000 (Sat, 31 Jan 2015)
Log Message:
-----------
Adding revisions for generic abn of metabolism
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-101840.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102200.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102530.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102730.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102800.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102900.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-105250.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-106300.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-101840.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-101840.tab 2015-01-28 14:07:40 UTC (rev 5285)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-101840.tab 2015-01-31 09:10:30 UTC (rev 5286)
@@ -1,5 +1,6 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:101840 ACROKERATODERMA, HEREDITARY PAPULOTRANSLUCENT HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:101840 HPO 17.02.2009
-OMIM:101840 ACROKERATODERMA, HEREDITARY PAPULOTRANSLUCENT HP:0001595 Abnormality of the hair IEA IEA OMIM:101840 HPO 17.02.2009
-OMIM:101840 ACROKERATODERMA, HEREDITARY PAPULOTRANSLUCENT HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:101840 HPO 17.02.2009
-OMIM:101840 ACROKERATODERMA, HEREDITARY PAPULOTRANSLUCENT HP:0002715 Abnormality of the immune system IEA IEA OMIM:101840 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:101840 ACROKERATODERMA, HEREDITARY PAPULOTRANSLUCENT HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:101840 HPO:probinson Feb 17, 2009
+OMIM:101840 ACROKERATODERMA, HEREDITARY PAPULOTRANSLUCENT HP:0200034 Papule TAS TAS OMIM:101840 HPO:probinson Jan 31, 2015
+OMIM:101840 ACROKERATODERMA, HEREDITARY PAPULOTRANSLUCENT HP:0200035 Skin plaque TAS TAS OMIM:101840 HPO:probinson Jan 31, 2015
+OMIM:101840 ACROKERATODERMA, HEREDITARY PAPULOTRANSLUCENT HP:0012393 Allergy TAS TAS OMIM:101840 HPO:probinson Jan 31, 2015
+OMIM:101840 ACROKERATODERMA, HEREDITARY PAPULOTRANSLUCENT HP:0002213 Fine hair TAS TAS OMIM:101840 HPO:probinson Jan 31, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102200.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102200.tab 2015-01-28 14:07:40 UTC (rev 5285)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102200.tab 2015-01-31 09:10:30 UTC (rev 5286)
@@ -1,14 +1,14 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:102200 HPO 17.02.2009
-OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0000280 Coarse facial features IEA IEA OMIM:102200 HPO 17.02.2009
-OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0000769 Abnormality of the breast IEA IEA OMIM:102200 HPO 17.02.2009
-OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0000822 Hypertension IEA IEA OMIM:102200 HPO 17.02.2009
-OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0000845 Growth hormone excess IEA IEA OMIM:102200 HPO 17.02.2009
-OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0000858 Menstrual irregularities IEA IEA OMIM:102200 HPO 17.02.2009
-OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0001428 Somatic mutation IEA IEA OMIM:102200 HPO 17.02.2009
-OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0001638 Cardiomyopathy IEA IEA OMIM:102200 HPO 17.02.2009
-OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0001712 Left ventricular hypertrophy IEA IEA OMIM:102200 HPO 17.02.2009
-OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:102200 HPO 17.02.2009
-OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0002893 Pituitary adenoma IEA IEA OMIM:102200 HPO:skoehler 18.06.2010
-OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0006767 Pituitary prolactin cell adenoma TAS TAS OMIM:102200 HPO:skoehler 17.02.2009
-OMIM:102200 #102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING;;SOMATOTROPINOMA, FAMILIAL ISOLATED; FIS;;ISOLATED FAMILIAL SOMATOTROPINOMA; IFS;;SOMATOTROPHINOMA, FAMILIAL;;ACROMEGALY DUE TO PITUITARY ADENOMAPITUITARY ADENOMA PREDISPOSITION, INCLUDED; PAP, INCLUDED;;PITUITARY ADENOMA, FAMILIAL ISOLATED, INCLUDED; FIPA, INCLUDED;;SOMATOSTATIN ANALOG, RESISTANCE TO, INCLUDED HP:0100829 Galactorrhea IEA IEA OMIM-CS:CHEST_BREASTS > GALACTORRHEA FROM INCREASED SERUM PROLACTIN OMIM:102200 HPO:skoehler 24.06.2014
+OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:102200 HPO:probinson Feb 17, 2009
+OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0000280 Coarse facial features IEA IEA OMIM:102200 HPO Feb 17, 2009
+OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0000822 Hypertension IEA IEA OMIM:102200 HPO Feb 17, 2009
+OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0000845 Growth hormone excess TAS TAS OMIM:102200 HPO:probinson Feb 17, 2009
+OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0000858 Menstrual irregularities IEA IEA OMIM:102200 HPO Feb 17, 2009
+OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0001428 Somatic mutation TAS TAS OMIM:102200 HPO:probinson Feb 17, 2009
+OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0001638 Cardiomyopathy IEA IEA OMIM:102200 HPO Feb 17, 2009
+OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0001712 Left ventricular hypertrophy IEA IEA OMIM:102200 HPO Feb 17, 2009
+OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0002893 Pituitary adenoma IEA IEA OMIM:102200 HPO:skoehler Jun 18, 2010
+OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0006767 Pituitary prolactin cell adenoma TAS TAS OMIM:102200 HPO:skoehler Feb 17, 2009
+OMIM:102200 #102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING;;SOMATOTROPINOMA, FAMILIAL ISOLATED; FIS;;ISOLATED FAMILIAL SOMATOTROPINOMA; IFS;;SOMATOTROPHINOMA, FAMILIAL;;ACROMEGALY DUE TO PITUITARY ADENOMAPITUITARY ADENOMA PREDISPOSITION, INCLUDED; PAP, INCLUDED;;PITUITARY ADENOMA, FAMILIAL ISOLATED, INCLUDED; FIPA, INCLUDED;;SOMATOSTATIN ANALOG, RESISTANCE TO, INCLUDED HP:0100829 Galactorrhea IEA IEA OMIM-CS:CHEST_BREASTS > GALACTORRHEA FROM INCREASED SERUM PROLACTIN OMIM:102200 HPO:skoehler Jun 24, 2014
+OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0000870 Prolactin excess TAS TAS OMIM:102200 HPO:probinson Jan 31, 2015
+OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0100829 Galactorrhea TAS TAS OMIM:102200 HPO:probinson Jan 31, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102530.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102530.tab 2015-01-28 14:07:40 UTC (rev 5285)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102530.tab 2015-01-31 09:10:30 UTC (rev 5286)
@@ -1,4 +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:102530 GLOBOZOOSPERMIA HP:0000789 Infertility IEA IEA OMIM:102530 HPO 17.02.2009
-OMIM:102530 GLOBOZOOSPERMIA HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:102530 HPO 17.02.2009
-OMIM:102530 GLOBOZOOSPERMIA HP:0012205 Globozoospermia IEA IEA Disease name contained:globozoospermia OMIM:102530 HPO:skoehler 27.01.2015
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset 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:102530 GLOBOZOOSPERMIA HP:0000789 Infertility TAS TAS OMIM:102530 HPO:probinson Feb 17, 2009
+OMIM:102530 GLOBOZOOSPERMIA HP:0012205 Globozoospermia TAS TAS Disease name contained:globozoospermia OMIM:102530 HPO:skoehler Jan 27, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102730.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102730.tab 2015-01-28 14:07:40 UTC (rev 5285)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102730.tab 2015-01-31 09:10:30 UTC (rev 5286)
@@ -1,6 +1,6 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:102730 ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:102730 HPO 17.02.2009
-OMIM:102730 ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO HP:0001878 Hemolytic anemia IEA IEA OMIM:102730 HPO 17.02.2009
-OMIM:102730 ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:102730 HPO 17.02.2009
-OMIM:102730 ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO HP:0004446 Stomatocytosis IEA IEA OMIM:102730 HPO 17.02.2009
-OMIM:102730 ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO HP:0004823 Anisopoikilocytosis IEA IEA OMIM:102730 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:102730 ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:102730 HPO:probinson Feb 17, 2009
+OMIM:102730 ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO HP:0001878 Hemolytic anemia TAS TAS OMIM:102730 HPO:probinson Feb 17, 2009
+OMIM:102730 ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO HP:0004446 Stomatocytosis TAS TAS OMIM:102730 HPO:probinson Feb 17, 2009
+OMIM:102730 ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO HP:0004823 Anisopoikilocytosis TAS TAS OMIM:102730 HPO:probinson Feb 17, 2009
+OMIM:102730 ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO HP:0002149 Hyperuricemia TAS TAS Mild OMIM:102730 HPO:probinson Jan 31, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102800.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102800.tab 2015-01-28 14:07:40 UTC (rev 5285)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102800.tab 2015-01-31 09:10:30 UTC (rev 5286)
@@ -1,4 +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:102800 ADENOSINE TRIPHOSPHATASE DEFICIENCY, ANEMIA DUE TO HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:102800 HPO 17.02.2009
-OMIM:102800 ADENOSINE TRIPHOSPHATASE DEFICIENCY, ANEMIA DUE TO HP:0001930 Nonspherocytic hemolytic anemia IEA IEA OMIM:102800 HPO:skoehler 20.06.2010
-OMIM:102800 ADENOSINE TRIPHOSPHATASE DEFICIENCY, ANEMIA DUE TO HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:102800 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:102800 ADENOSINE TRIPHOSPHATASE DEFICIENCY, ANEMIA DUE TO HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:102800 HPO:probinson Feb 17, 2009
+OMIM:102800 ADENOSINE TRIPHOSPHATASE DEFICIENCY, ANEMIA DUE TO HP:0001930 Nonspherocytic hemolytic anemia IEA IEA Rare OMIM:102800 HPO:skoehler Jun 20, 2010
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102900.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102900.tab 2015-01-28 14:07:40 UTC (rev 5285)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102900.tab 2015-01-31 09:10:30 UTC (rev 5286)
@@ -1,4 +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:102900 ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:102900 HPO 17.02.2009
-OMIM:102900 ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES HP:0001901 Polycythemia IEA IEA OMIM:102900 HPO 17.02.2009
-OMIM:102900 ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:102900 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:102900 ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:102900 HPO:probinson Feb 17, 2009
+OMIM:102900 ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES HP:0001901 Polycythemia TAS TAS OMIM:102900 HPO:probinson Feb 17, 2009
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-105250.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-105250.tab 2015-01-28 14:07:40 UTC (rev 5285)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-105250.tab 2015-01-31 09:10:30 UTC (rev 5286)
@@ -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:105250 AMYLOIDOSIS, PRIMARY CUTANEOUS HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:105250 HPO 17.02.2009
-OMIM:105250 AMYLOIDOSIS, PRIMARY CUTANEOUS HP:0000973 Cutis laxa IEA IEA OMIM:105250 HPO 17.02.2009
-OMIM:105250 AMYLOIDOSIS, PRIMARY CUTANEOUS HP:0000989 Pruritus IEA IEA OMIM:105250 HPO 17.02.2009
-OMIM:105250 AMYLOIDOSIS, PRIMARY CUTANEOUS HP:0001149 Lattice corneal dystrophy IEA IEA OMIM:105250 HPO 17.02.2009
-OMIM:105250 AMYLOIDOSIS, PRIMARY CUTANEOUS HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:105250 HPO 17.02.2009
-OMIM:105250 AMYLOIDOSIS, PRIMARY CUTANEOUS HP:0003581 Adult onset IEA IEA OMIM:105250 HPO 17.02.2009
-OMIM:105250 AMYLOIDOSIS, PRIMARY CUTANEOUS HP:0009830 Peripheral neuropathy IEA IEA OMIM:105250 HPO:skoehler 20.06.2010
-OMIM:105250 AMYLOIDOSIS, PRIMARY CUTANEOUS HP:0002459 Dysautonomia IEA IEA NOT NOT OMIM:105250 HPO:skoehler 18.06.2010
-OMIM:105250 AMYLOIDOSIS, PRIMARY CUTANEOUS HP:0011034 Amyloidosis IEA IEA Disease name contained:amyloidosis, primary cutaneous OMIM:105250 HPO:skoehler 27.01.2015
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset 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:105250 AMYLOIDOSIS, PRIMARY CUTANEOUS HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:105250 HPO:probinson Feb 17, 2009
+OMIM:105250 AMYLOIDOSIS, PRIMARY CUTANEOUS HP:0000973 Cutis laxa TAS TAS OMIM:105250 HPO:probinson Feb 17, 2009
+OMIM:105250 AMYLOIDOSIS, PRIMARY CUTANEOUS HP:0000989 Pruritus TAS TAS OMIM:105250 HPO:probinson Feb 17, 2009
+OMIM:105250 AMYLOIDOSIS, PRIMARY CUTANEOUS HP:0001149 Lattice corneal dystrophy TAS TAS OMIM:105250 HPO:probinson Feb 17, 2009
+OMIM:105250 AMYLOIDOSIS, PRIMARY CUTANEOUS HP:0003581 Adult onset TAS TAS OMIM:105250 HPO:probinson Feb 17, 2009
+OMIM:105250 AMYLOIDOSIS, PRIMARY CUTANEOUS HP:0009830 Peripheral neuropathy TAS TAS NOT NOT OMIM:105250 HPO:skoehler Jun 20, 2010
+OMIM:105250 AMYLOIDOSIS, PRIMARY CUTANEOUS HP:0002459 Dysautonomia TAS TAS NOT NOT OMIM:105250 HPO:skoehler Jun 18, 2010
+OMIM:105250 AMYLOIDOSIS, PRIMARY CUTANEOUS HP:0011034 Amyloidosis TAS TAS Localized amyloid deposition OMIM:105250 HPO:skoehler Jan 27, 2015
+OMIM:105250 AMYLOIDOSIS, PRIMARY CUTANEOUS HP:0001291 Abnormality of the cranial nerves TAS TAS OMIM:105250 HPO:probinson Jan 31, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-106300.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-106300.tab 2015-01-28 14:07:40 UTC (rev 5285)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-106300.tab 2015-01-31 09:10:30 UTC (rev 5286)
@@ -1,17 +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:106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:106300 HPO Feb 17, 2009
-OMIM:106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0000554 Uveitis IEA IEA OMIM:106300 HPO:skoehler Jun 20, 2010
-OMIM:106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0001369 Arthritis IEA IEA OMIM:106300 HPO Feb 17, 2009
-OMIM:106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0001425 Heterogeneous IEA IEA OMIM:106300 HPO Feb 17, 2009
-OMIM:106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0001426 Multifactorial inheritance IEA IEA OMIM:106300 HPO:skoehler Jun 19, 2010
-OMIM:106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0001659 Aortic regurgitation IEA IEA OMIM:106300 HPO Feb 17, 2009
-OMIM:106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:106300 HPO Feb 17, 2009
-OMIM:106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0002037 Inflammation of the large intestine IEA IEA OMIM:106300 HPO Feb 17, 2009
-OMIM:106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0002644 Abnormality of pelvic girdle bone morphology IEA IEA OMIM:106300 HPO Feb 17, 2009
-OMIM:106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0002808 Kyphosis IEA IEA OMIM:106300 HPO:skoehler Jun 20, 2010
-OMIM:106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0003418 Back pain IEA IEA OMIM:106300 HPO:skoehler Jun 20, 2010
-OMIM:106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0003765 Psoriasis IEA IEA OMIM:106300 HPO Feb 17, 2009
-OMIM:106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0011675 Arrhythmia IEA IEA OMIM:106300 HPO Feb 17, 2009
-OMIM:106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0002037 Inflammation of the large intestine IEA IEA OMIM:106300 HPO:skoehler Oct 12, 2012
-OMIM:106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0012122 Anterior uveitis IEA IEA OMIM:106300 HPO:skoehler Oct 12, 2012
-OMIM:106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0100686 Enthesitis IEA IEA OMIM:106300 HPO:skoehler Oct 12, 2012
+OMIM:106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0008843 Hip osteoarthritis TAS TAS OMIM:106300 HPO Feb 17, 2009
+OMIM:106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0001426 Multifactorial inheritance TAS TAS OMIM:106300 HPO:skoehler Jun 19, 2010
+OMIM:106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0001659 Aortic regurgitation TAS TAS OMIM:106300 HPO:probinson Feb 17, 2009
+OMIM:106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0002808 Kyphosis TAS TAS OMIM:106300 HPO:skoehler Jun 20, 2010
+OMIM:106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0003418 Back pain TAS TAS OMIM:106300 HPO:skoehler Jun 20, 2010
+OMIM:106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0003765 Psoriasis TAS TAS OMIM:106300 HPO:probinson Feb 17, 2009
+OMIM:106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0011675 Arrhythmia TAS TAS OMIM:106300 HPO:probinson Feb 17, 2009
+OMIM:106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0002037 Inflammation of the large intestine TAS TAS OMIM:106300 HPO:skoehler Oct 12, 2012
+OMIM:106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0012122 Anterior uveitis TAS TAS OMIM:106300 HPO:skoehler Oct 12, 2012
+OMIM:106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0100686 Enthesitis TAS TAS OMIM:106300 HPO:skoehler Oct 12, 2012
+OMIM:106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0002923 Rheumatoid factor positive TAS TAS NOT NOT OMIM:106300 HPO:probinson Jan 31, 2015
+OMIM:106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0008843 Hip osteoarthritis TAS TAS OMIM:106300 HPO:probinson Jan 31, 2015
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From: <koe...@us...> - 2015-01-28 14:07:49
|
Revision: 5285
http://sourceforge.net/p/obo/svn/5285
Author: koehlers
Date: 2015-01-28 14:07:40 +0000 (Wed, 28 Jan 2015)
Log Message:
-----------
annotation updates from omim
one bugfix
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-112600.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-301200.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603457.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612936.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613628.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614871.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615373.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615816.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616099.tab
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616154.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616155.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616165.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-112600.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-112600.tab 2015-01-27 21:31:33 UTC (rev 5284)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-112600.tab 2015-01-28 14:07:40 UTC (rev 5285)
@@ -18,3 +18,4 @@
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
+OMIM:112600 #112600 BRACHYDACTYLY, TYPE A2; BDA2;;BRACHYMESOPHALANGY II;;MOHR-WRIEDT TYPE BRACHYDACTYLY HP:0004220 Short middle phalanx of the 5th finger IEA IEA OMIM-CS:SKELETAL_HANDS > HYPOPLASTIC MIDDLE PHALANX (5TH FINGER) OMIM:112600 HPO:skoehler 28.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-301200.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-301200.tab 2015-01-27 21:31:33 UTC (rev 5284)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-301200.tab 2015-01-28 14:07:40 UTC (rev 5285)
@@ -7,3 +7,4 @@
OMIM:301200 #301200 AMELOGENESIS IMPERFECTA, TYPE IE; AI1E;;AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1;;AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, WITH SNOW-CAPPED TEETH;;AMELOGENESIS IMPERFECTA, X-LINKED 1; AIH1;;ENAMEL HYPOPLASIA, X-LINKED HP:0200095 Anterior open bite IEA IEA OMIM-CS:HEAD AND NECK_TEETH > ANTERIOR OPEN BITE OMIM:301200 HPO:skoehler 04.06.2013
OMIM:301200 #301200 AMELOGENESIS IMPERFECTA, TYPE IE; AI1E;;AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1;;AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, WITH SNOW-CAPPED TEETH;;AMELOGENESIS IMPERFECTA, X-LINKED 1; AIH1;;ENAMEL HYPOPLASIA, X-LINKED HP:0006297 Hypoplasia of dental enamel TAS TAS Disease name contained:, x-linked 1; aih1;;enamel hypoplasia, x-linked OMIM:301200 HPO:skoehler 21.01.2015
+OMIM:301200 #301200 AMELOGENESIS IMPERFECTA, TYPE IE; AI1E;;AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1;;AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, WITH SNOW-CAPPED TEETH;;AMELOGENESIS IMPERFECTA, X-LINKED 1; AIH1;;ENAMEL HYPOPLASIA, X-LINKED HP:0010299 Abnormality of dentin IEA IEA NOT NOT OMIM-CS:HEAD AND NECK_TEETH > NORMAL DENTIN OMIM:301200 HPO:skoehler 28.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603457.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603457.tab 2015-01-27 21:31:33 UTC (rev 5284)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603457.tab 2015-01-28 14:07:40 UTC (rev 5285)
@@ -3,6 +3,7 @@
OMIM:603457 ARRHINIA - CHOANAL ATRESIA - MICROPHTHALMIA HP:0009927 Aplasia of the nose IEA IEA OMIM-CS OMIM:603457 HPO:skoehler 21.01.2015
OMIM:603457 ARRHINIA - CHOANAL ATRESIA - MICROPHTHALMIA HP:0000453 Choanal atresia IEA IEA OMIM-CS OMIM:603457 HPO:skoehler 21.01.2015
OMIM:603457 ARRHINIA - CHOANAL ATRESIA - MICROPHTHALMIA HP:0000568 Microphthalmos IEA IEA OMIM-CS OMIM:603457 HPO:skoehler 21.01.2015
+OMIM:603457 ARRHINIA - CHOANAL ATRESIA - MICROPHTHALMIA HP:0000135 Hypogonadism IEA IEA Disease name contained: - hypogonadotropic hypogonadism|http://www.orpha.ne OMIM:603457 HPO:skoehler 21.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612936.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612936.tab 2015-01-27 21:31:33 UTC (rev 5284)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612936.tab 2015-01-28 14:07:40 UTC (rev 5285)
@@ -19,3 +19,4 @@
OMIM:612936 #612936 SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50;;CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3, FORMERLY; CPSQ3, FORMERLY HP:0001258 Spastic paraplegia TAS TAS Disease name contained:#612936 spastic paraplegia 50, autosomal reces OMIM:612936 HPO:skoehler 21.01.2015
OMIM:612936 #612936 SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50;;CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3, FORMERLY; CPSQ3, FORMERLY HP:0100021 Cerebral palsy TAS TAS Disease name contained:l recessive; spg50;;cerebral palsy, spastic quadripleg OMIM:612936 HPO:skoehler 21.01.2015
+OMIM:612936 #612936 SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50;;CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3, FORMERLY; CPSQ3, FORMERLY HP:0002510 Spastic tetraplegia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SPASTIC QUADRIPLEGIA OMIM:612936 HPO:skoehler 28.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613628.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613628.tab 2015-01-27 21:31:33 UTC (rev 5284)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613628.tab 2015-01-28 14:07:40 UTC (rev 5285)
@@ -4,3 +4,4 @@
OMIM:613628 %613628 ODONTOID HYPOPLASIA HP:0003467 Atlantoaxial instability IEA IEA OMIM-CS:SKELETAL_SPINE > ATLANTOAXIAL INSTABILITY OMIM:613628 HPO:skoehler 17.10.2012
OMIM:613628 %613628 ODONTOID HYPOPLASIA HP:0003311 Hypoplasia of the odontoid process TAS TAS Disease name contained:%613628 odontoid hypoplasia OMIM:613628 HPO:skoehler 21.01.2015
+OMIM:613628 %613628 ODONTOID HYPOPLASIA HP:0040143 Dystopic os odontoideum IEA IEA OMIM-CS:SKELETAL_SPINE > DYSTOPIC OS ODONTOIDEUM OMIM:613628 HPO:skoehler 28.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614871.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614871.tab 2015-01-27 21:31:33 UTC (rev 5284)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614871.tab 2015-01-28 14:07:40 UTC (rev 5285)
@@ -6,3 +6,15 @@
OMIM:614871 #614871 PEROXISOME BIOGENESIS DISORDER 6B; PBD6B PEX10 HP:0000407 Sensorineural hearing impairment TAS TAS OMIM:614871 HPO:probinson Feb 24, 2013
OMIM:614871 #614871 PEROXISOME BIOGENESIS DISORDER 6B; PBD6B PEX10 HP:0000556 Retinal dystrophy TAS TAS OMIM:614871 HPO:probinson Feb 24, 2013
OMIM:614871 #614871 PEROXISOME BIOGENESIS DISORDER 6B; PBD6B PEX10 HP:0000505 Visual impairment TAS TAS OMIM:614871 HPO:probinson Feb 24, 2013
+OMIM:614871 #614871 PEROXISOME BIOGENESIS DISORDER 6B; PBD6B HP:0000641 Dysmetric saccades IEA IEA OMIM-CS:HEAD AND NECK_EYES > DYSMETRIC SACCADES OMIM:614871 HPO:skoehler 28.01.2015
+OMIM:614871 #614871 PEROXISOME BIOGENESIS DISORDER 6B; PBD6B HP:0007772 Impaired smooth pursuit IEA IEA OMIM-CS:HEAD AND NECK_EYES > IMPAIRED SMOOTH PURSUIT OMIM:614871 HPO:skoehler 28.01.2015
+OMIM:614871 #614871 PEROXISOME BIOGENESIS DISORDER 6B; PBD6B HP:0000639 Nystagmus IEA IEA OMIM-CS:HEAD AND NECK_EYES > NYSTAGMUS OMIM:614871 HPO:skoehler 28.01.2015
+OMIM:614871 #614871 PEROXISOME BIOGENESIS DISORDER 6B; PBD6B HP:0003693 Distal amyotrophy IEA IEA rare OMIM-CS:MUSCLE, SOFT TISSUE > DISTAL MUSCLE ATROPHY (1 PATIENT) OMIM:614871 HPO:skoehler 28.01.2015
+OMIM:614871 #614871 PEROXISOME BIOGENESIS DISORDER 6B; PBD6B HP:0001251 Ataxia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR ATAXIA OMIM:614871 HPO:skoehler 28.01.2015
+OMIM:614871 #614871 PEROXISOME BIOGENESIS DISORDER 6B; PBD6B HP:0001272 Cerebellar atrophy IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR ATROPHY OMIM:614871 HPO:skoehler 28.01.2015
+OMIM:614871 #614871 PEROXISOME BIOGENESIS DISORDER 6B; PBD6B HP:0001260 Dysarthria IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DYSARTHRIA OMIM:614871 HPO:skoehler 28.01.2015
+OMIM:614871 #614871 PEROXISOME BIOGENESIS DISORDER 6B; PBD6B HP:0002080 Intention tremor IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTENTION TREMOR (1 PATIENT) OMIM:614871 HPO:skoehler 28.01.2015
+OMIM:614871 #614871 PEROXISOME BIOGENESIS DISORDER 6B; PBD6B HP:0002500 Abnormality of the cerebral white matter IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > WHITE MATTER ABNORMALITIES (1 PATIENT) OMIM:614871 HPO:skoehler 28.01.2015
+OMIM:614871 #614871 PEROXISOME BIOGENESIS DISORDER 6B; PBD6B HP:0002936 Distal sensory impairment IEA IEA rare OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > DISTAL SENSORY IMPAIRMENT (IN SOME PATIENTS) OMIM:614871 HPO:skoehler 28.01.2015
+OMIM:614871 #614871 PEROXISOME BIOGENESIS DISORDER 6B; PBD6B HP:0001265 Hyporeflexia IEA IEA rare OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > HYPOREFLEXIA (IN SOME PATIENTS) OMIM:614871 HPO:skoehler 28.01.2015
+OMIM:614871 #614871 PEROXISOME BIOGENESIS DISORDER 6B; PBD6B HP:0001761 Pes cavus IEA IEA rare OMIM-CS:SKELETAL_FEET > PES CAVUS (1 PATIENT) OMIM:614871 HPO:skoehler 28.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615373.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615373.tab 2015-01-27 21:31:33 UTC (rev 5284)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615373.tab 2015-01-28 14:07:40 UTC (rev 5285)
@@ -4,6 +4,5 @@
OMIM:615373 #615373 LEFT VENTRICULAR NONCOMPACTION 8; LVNC8CARDIOMYOPATHY, DILATED, 1LL, INCLUDED; CMD1LL, INCLUDED HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT OMIM:615373 HPO:skoehler 28.01.2014
OMIM:615373 #615373 LEFT VENTRICULAR NONCOMPACTION 8; LVNC8CARDIOMYOPATHY, DILATED, 1LL, INCLUDED; CMD1LL, INCLUDED HP:0001644 Dilated cardiomyopathy IEA IEA Disease name contained:ncompaction 8; lvnc8cardiomyopathy, dilated, 1ll, included; cmd OMIM:615373 HPO:skoehler 21.01.2015
OMIM:615373 #615373 LEFT VENTRICULAR NONCOMPACTION 8; LVNC8CARDIOMYOPATHY, DILATED, 1LL, INCLUDED; CMD1LL, INCLUDED HP:0001711 Abnormality of the left ventricle IEA IEA OMIM-CS section OMIM:615373 HPO:skoehler 21.01.2015
-OMIM:603457 ARRHINIA - CHOANAL ATRESIA - MICROPHTHALMIA HP:0000135 Hypogonadism IEA IEA Disease name contained: - hypogonadotropic hypogonadism|http://www.orpha.ne OMIM:603457 HPO:skoehler 21.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615816.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615816.tab 2015-01-27 21:31:33 UTC (rev 5284)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615816.tab 2015-01-28 14:07:40 UTC (rev 5285)
@@ -21,3 +21,5 @@
OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0001252 Muscular hypotonia IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > HYPOTONIA OMIM:615816 HPO:skoehler 26.11.2014
OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IGE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0100543 Cognitive impairment TAS TAS Disease name contained: with hyper ige and cognitive impairment;;immunodeficiency-v OMIM:615816 HPO:skoehler 21.01.2015
+OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0040148 Cortical myoclonus IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CORTICAL MYOCLONUS OMIM:615816 HPO:skoehler 28.01.2015
+OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0200029 Vasculitis in the skin IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > CUTANEOUS VASCULITIS OMIM:615816 HPO:skoehler 28.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616099.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616099.tab 2015-01-27 21:31:33 UTC (rev 5284)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616099.tab 2015-01-28 14:07:40 UTC (rev 5285)
@@ -8,3 +8,5 @@
OMIM:616099 #616099 PALMOPLANTAR KERATODERMA AND WOOLLY HAIR; PPKWH HP:0000982 Palmoplantar keratoderma TAS TAS Disease name contained:#616099 palmoplantar keratoderma and woolly hair; pp OMIM:616099 HPO:skoehler 21.01.2015
+OMIM:616099 #616099 PALMOPLANTAR KERATODERMA AND WOOLLY HAIR; PPKWH HP:0040149 Woolly scalp hair IEA IEA OMIM-CS:HEAD AND NECK_HEAD > WOOLLY SCALP HAIR OMIM:616099 HPO:skoehler 28.01.2015
+OMIM:616099 #616099 PALMOPLANTAR KERATODERMA AND WOOLLY HAIR; PPKWH HP:0040149 Woolly scalp hair IEA IEA rare OMIM-CS:SKIN, NAILS, HAIR_HAIR > WOOLLY SCALP HAIR (IN SOME PATIENTS) OMIM:616099 HPO:skoehler 28.01.2015
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616154.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616154.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616154.tab 2015-01-28 14:07:40 UTC (rev 5285)
@@ -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:616154 #616154 PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD HP:0001510 Growth delay IEA IEA OMIM-CS:GROWTH_OTHER > GROWTH RETARDATION OMIM:616154 HPO:skoehler 28.01.2015
+OMIM:616154 #616154 PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD HP:0000400 Macrotia IEA IEA OMIM-CS:HEAD AND NECK_EARS > LARGE EARS OMIM:616154 HPO:skoehler 28.01.2015
+OMIM:616154 #616154 PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD HP:0000518 Cataract IEA IEA OMIM-CS:HEAD AND NECK_EYES > CATARACTS OMIM:616154 HPO:skoehler 28.01.2015
+OMIM:616154 #616154 PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD HP:0002553 Highly arched eyebrow IEA IEA OMIM-CS:HEAD AND NECK_EYES > HIGH-ARCHED EYEBROWS OMIM:616154 HPO:skoehler 28.01.2015
+OMIM:616154 #616154 PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD HP:0000280 Coarse facial features IEA IEA OMIM-CS:HEAD AND NECK_FACE > COARSE FACIES OMIM:616154 HPO:skoehler 28.01.2015
+OMIM:616154 #616154 PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD HP:0001999 Abnormal facial shape IEA IEA MODIFIER:MILD;OMIM-CS:HEAD AND NECK_FACE > DYSMORPHIC FACIAL FEATURES, MILD OMIM:616154 HPO:skoehler 28.01.2015
+OMIM:616154 #616154 PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD HP:0000343 Long philtrum IEA IEA OMIM-CS:HEAD AND NECK_FACE > LONG PHILTRUM OMIM:616154 HPO:skoehler 28.01.2015
+OMIM:616154 #616154 PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD HP:0000252 Microcephaly IEA IEA OMIM-CS:HEAD AND NECK_HEAD > MICROCEPHALY OMIM:616154 HPO:skoehler 28.01.2015
+OMIM:616154 #616154 PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD HP:0000219 Thin upper lip vermilion IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > THIN UPPER LIP OMIM:616154 HPO:skoehler 28.01.2015
+OMIM:616154 #616154 PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD HP:0001252 Muscular hypotonia IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > HYPOTONIA OMIM:616154 HPO:skoehler 28.01.2015
+OMIM:616154 #616154 PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD HP:0001272 Cerebellar atrophy IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR ATROPHY (1 PATIENT) OMIM:616154 HPO:skoehler 28.01.2015
+OMIM:616154 #616154 PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD HP:0001263 Global developmental delay IEA IEA MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE OMIM:616154 HPO:skoehler 28.01.2015
+OMIM:616154 #616154 PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD HP:0001249 Intellectual disability IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION OMIM:616154 HPO:skoehler 28.01.2015
+OMIM:616154 #616154 PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD HP:0001250 Seizures IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES OMIM:616154 HPO:skoehler 28.01.2015
+OMIM:616154 #616154 PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD HP:0001257 Spasticity IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SPASTICITY OMIM:616154 HPO:skoehler 28.01.2015
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616154.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616155.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616155.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616155.tab 2015-01-28 14:07:40 UTC (rev 5285)
@@ -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:616155 #616155 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S; CMT2S;;CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2S;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2S HP:0001284 Areflexia IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > AREFLEXIA OMIM:616155 HPO:skoehler 28.01.2015
+OMIM:616155 #616155 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S; CMT2S;;CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2S;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2S HP:0040078 Axonal degeneration IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > AXONAL DEGENERATION OMIM:616155 HPO:skoehler 28.01.2015
+OMIM:616155 #616155 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S; CMT2S;;CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2S;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2S HP:0002936 Distal sensory impairment IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > DISTAL SENSORY IMPAIRMENT OMIM:616155 HPO:skoehler 28.01.2015
+OMIM:616155 #616155 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S; CMT2S;;CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2S;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2S HP:0009027 Foot dorsiflexor weakness IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > FOOT DROP OMIM:616155 HPO:skoehler 28.01.2015
+OMIM:616155 #616155 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S; CMT2S;;CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2S;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2S HP:0001265 Hyporeflexia IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > HYPOREFLEXIA OMIM:616155 HPO:skoehler 28.01.2015
+OMIM:616155 #616155 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S; CMT2S;;CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2S;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2S HP:0001288 Gait disturbance IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > IMPAIRED GAIT OMIM:616155 HPO:skoehler 28.01.2015
+OMIM:616155 #616155 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S; CMT2S;;CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2S;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2S HP:0003376 Steppage gait IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > STEPPAGE GAIT OMIM:616155 HPO:skoehler 28.01.2015
+OMIM:616155 #616155 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S; CMT2S;;CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2S;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2S HP:0001762 Talipes equinovarus IEA IEA rare OMIM-CS:SKELETAL_FEET > PES EQUINOVARUS (IN SOME PATIENTS) OMIM:616155 HPO:skoehler 28.01.2015
+OMIM:616155 #616155 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S; CMT2S;;CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2S;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2S HP:0002650 Scoliosis IEA IEA rare OMIM-CS:SKELETAL_SPINE > SCOLIOSIS (IN SOME PATIENTS) OMIM:616155 HPO:skoehler 28.01.2015
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616155.tab
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Added: svn:executable
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Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616165.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616165.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616165.tab 2015-01-28 14:07:40 UTC (rev 5285)
@@ -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:616165 #616165 NEMALINE MYOPATHY 10; NEM10 HP:0000602 Ophthalmoplegia IEA IEA OMIM-CS:HEAD AND NECK_EYES > OPHTHALMOPLEGIA OMIM:616165 HPO:skoehler 28.01.2015
+OMIM:616165 #616165 NEMALINE MYOPATHY 10; NEM10 HP:0010628 Facial palsy IEA IEA OMIM-CS:HEAD AND NECK_FACE > FACIAL WEAKNESS OMIM:616165 HPO:skoehler 28.01.2015
+OMIM:616165 #616165 NEMALINE MYOPATHY 10; NEM10 HP:0001283 Bulbar palsy IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > BULBAR MUSCLE WEAKNESS OMIM:616165 HPO:skoehler 28.01.2015
+OMIM:616165 #616165 NEMALINE MYOPATHY 10; NEM10 HP:0006829 Severe muscular hypotonia HP:0003623 Neonatal onset IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > HYPOTONIA, SEVERE, NEONATAL OMIM:616165 HPO:skoehler 28.01.2015
+OMIM:616165 #616165 NEMALINE MYOPATHY 10; NEM10 HP:0003202 Skeletal muscle atrophy IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE ATROPHY OMIM:616165 HPO:skoehler 28.01.2015
+OMIM:616165 #616165 NEMALINE MYOPATHY 10; NEM10 HP:0001324 Muscle weakness IEA IEA MODIFIER:GENERALIZED;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, GENERALIZED OMIM:616165 HPO:skoehler 28.01.2015
+OMIM:616165 #616165 NEMALINE MYOPATHY 10; NEM10 HP:0001561 Polyhydramnios IEA IEA OMIM-CS:PRENATAL MANIFESTATIONS_AMNIOTIC FLUID > POLYHYDRAMNIOS OMIM:616165 HPO:skoehler 28.01.2015
+OMIM:616165 #616165 NEMALINE MYOPATHY 10; NEM10 HP:0001622 Premature birth IEA IEA OMIM-CS:PRENATAL MANIFESTATIONS_DELIVERY > PREMATURE DELIVERY OMIM:616165 HPO:skoehler 28.01.2015
+OMIM:616165 #616165 NEMALINE MYOPATHY 10; NEM10 HP:0001558 Decreased fetal movement IEA IEA OMIM-CS:PRENATAL MANIFESTATIONS_MOVEMENT > DECREASED FETAL MOVEMENTS OMIM:616165 HPO:skoehler 28.01.2015
+OMIM:616165 #616165 NEMALINE MYOPATHY 10; NEM10 HP:0002747 Respiratory insufficiency due to muscle weakness IEA IEA OMIM-CS:RESPIRATORY > RESPIRATORY FAILURE DUE TO MUSCLE WEAKNESS OMIM:616165 HPO:skoehler 28.01.2015
+OMIM:616165 #616165 NEMALINE MYOPATHY 10; NEM10 HP:0002747 Respiratory insufficiency due to muscle weakness IEA IEA OMIM-CS:RESPIRATORY > RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS OMIM:616165 HPO:skoehler 28.01.2015
+OMIM:616165 #616165 NEMALINE MYOPATHY 10; NEM10 HP:0002804 Arthrogryposis multiplex congenita IEA IEA OMIM-CS:SKELETAL > ARTHROGRYPOSIS OMIM:616165 HPO:skoehler 28.01.2015
+OMIM:616165 #616165 NEMALINE MYOPATHY 10; NEM10 HP:0001371 Flexion contracture IEA IEA OMIM-CS:SKELETAL > CONTRACTURES OMIM:616165 HPO:skoehler 28.01.2015
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616165.tab
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Added: svn:executable
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This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
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|
From: <koe...@us...> - 2015-01-27 21:31:38
|
Revision: 5284
http://sourceforge.net/p/obo/svn/5284
Author: koehlers
Date: 2015-01-27 21:31:33 +0000 (Tue, 27 Jan 2015)
Log Message:
-----------
a whole lot of manually checked annotation additions
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-101900.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102530.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-103300.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-105210.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-105250.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-106190.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-106240.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108120.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-109560.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-109900.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-112440.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-118330.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-118350.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-122430.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-123557.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-123880.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125440.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-126600.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-131450.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-131460.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-132990.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-133600.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137215.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137950.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-142395.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-142625.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-143400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-143890.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-148370.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-148700.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-148800.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-151441.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-151700.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-153700.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-153840.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-154230.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-158300.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-158900.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-158901.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-161400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-162600.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-163800.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-166400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-175800.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-175860.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-176860.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-177700.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-178400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-181440.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-182600.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-182610.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-182970.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-182980.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-182990.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-183800.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-183900.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184000.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184250.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184252.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184260.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184510.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184900.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-188050.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-188055.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-193100.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-193230.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-194000.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-194300.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-201300.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-201710.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-203100.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-203290.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-204850.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-204900.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-208500.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-209880.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-210740.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-211900.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-212140.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-212160.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-214300.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-218400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-219050.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-219090.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-220500.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-221820.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-221900.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-221995.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-222400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-223540.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-224000.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-226900.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-228900.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-228930.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-231670.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-234810.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-235900.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-236792.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-240500.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-242150.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-243150.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-244600.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-245600.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-246560.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-248770.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-249230.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-251945.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-251950.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-252320.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-253300.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-253400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-253550.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-253600.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-257270.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-257500.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-259100.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-259550.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-259650.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-259700.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-259710.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-259770.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-260500.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-260910.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-262400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-263520.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-266400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-267730.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-267760.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-268060.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-269860.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-273390.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-275000.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-277990.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300266.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300424.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300584.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300700.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300807.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300848.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300853.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300888.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300894.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300914.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300918.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-301590.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-304800.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-305390.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-308200.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-500009.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-502500.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600195.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600383.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600802.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601198.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601493.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601547.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601894.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602088.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602114.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602562.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604218.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604229.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604364.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604379.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604387.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604391.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-605289.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-605375.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-605388.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-605670.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-605899.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606159.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606574.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606688.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606703.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606712.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606835.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606952.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607080.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607131.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607634.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607655.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607683.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607801.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607936.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608161.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608203.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608224.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608710.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608762.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608971.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608984.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609057.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609376.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609808.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609886.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609923.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610100.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610244.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610247.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610359.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610377.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610382.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610455.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610551.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610623.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611131.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611225.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611302.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611390.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611544.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611863.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611926.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611945.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612227.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612304.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612335.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612348.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612526.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612645.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612691.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612714.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-612813.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612852.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612900.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612923.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612924.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612926.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612965.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613024.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613091.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613096.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613124.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613144.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613157.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613206.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613229.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613239.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613319.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613327.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613345.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613385.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613424.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613426.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613493.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613496.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613517.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613530.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613558.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613647.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613668.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613718.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613818.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613882.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613913.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613943.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613978.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614066.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614069.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614103.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614135.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614165.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614172.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614188.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614212.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614213.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614253.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614298.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614306.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614369.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614377.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614381.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614388.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614402.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614409.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614422.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614438.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614474.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614480.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614482.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614487.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614508.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614514.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614561.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614595.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614614.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614616.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614617.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614618.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614675.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614699.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614700.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614800.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614830.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614868.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614881.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614898.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614899.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614944.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615043.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615048.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615059.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615127.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615156.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615179.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615207.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615238.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615290.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615312.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615314.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615343.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615382.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615399.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615420.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615429.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615491.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615513.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615518.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615577.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615589.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615625.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615629.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615633.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615643.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615649.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615658.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615705.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615707.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615724.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615758.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615885.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615889.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615907.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615911.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615947.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615972.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616005.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616055.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616106.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616108.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616140.tab
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137763.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-203340.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-226810.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-243185.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-261990.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300218.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300262.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300709.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-311280.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603736.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604919.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606690.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607676.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608578.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613342.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615619.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615861.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-101900.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-101900.tab 2015-01-27 20:36:32 UTC (rev 5283)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-101900.tab 2015-01-27 21:31:33 UTC (rev 5284)
@@ -3,3 +3,4 @@
OMIM:101900 ACROKERATOSIS VERRUCIFORMIS HP:0000962 Hyperkeratosis IEA IEA OMIM:101900 HPO 17.02.2009
OMIM:101900 ACROKERATOSIS VERRUCIFORMIS HP:0001807 Ridged nail IEA IEA OMIM:101900 HPO 17.02.2009
OMIM:101900 #101900 ACROKERATOSIS VERRUCIFORMIS; AKV;;HOPF DISEASE HP:0100792 Acantholysis IEA IEA NOT NOT OMIM-CS:SKIN, NAILS, HAIR_SKIN > NO ACANTHOLYSIS OR DYSKERATOSIS OMIM:101900 HPO:skoehler 24.06.2014
+OMIM:101900 #101900 ACROKERATOSIS VERRUCIFORMIS; AKV;;HOPF DISEASE HP:0200016 Acrokeratosis IEA IEA Disease name contained:#101900 acrokeratosis verruciformis; akv; OMIM:101900 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102530.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102530.tab 2015-01-27 20:36:32 UTC (rev 5283)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102530.tab 2015-01-27 21:31:33 UTC (rev 5284)
@@ -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:102530 GLOBOZOOSPERMIA HP:0000789 Infertility IEA IEA OMIM:102530 HPO 17.02.2009
OMIM:102530 GLOBOZOOSPERMIA HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:102530 HPO 17.02.2009
+OMIM:102530 GLOBOZOOSPERMIA HP:0012205 Globozoospermia IEA IEA Disease name contained:globozoospermia OMIM:102530 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-103300.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-103300.tab 2015-01-27 20:36:32 UTC (rev 5283)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-103300.tab 2015-01-27 21:31:33 UTC (rev 5284)
@@ -9,3 +9,4 @@
OMIM:103300 AGLOSSIA-ADACTYLIA HP:0000347 Micrognathia TAS TAS OMIM:103300 HPO:skoehler Oct 11, 2012
OMIM:103300 AGLOSSIA-ADACTYLIA HP:0000171 Microglossia TAS TAS OMIM:103300 HPO:skoehler Oct 11, 2012
OMIM:103300 AGLOSSIA-ADACTYLIA HP:0012730 Aglossia IEA IEA Disease name contained:aglossia-adactylia OMIM:103300 HPO:skoehler 27.01.2015
+OMIM:103300 AGLOSSIA-ADACTYLIA HP:0012730 Aglossia IEA IEA Disease name contained:aglossia-adactylia OMIM:103300 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-105210.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-105210.tab 2015-01-27 20:36:32 UTC (rev 5283)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-105210.tab 2015-01-27 21:31:33 UTC (rev 5284)
@@ -31,3 +31,4 @@
OMIM:105210 AMYLOIDOSIS VII HP:0003477 Peripheral axonal neuropathy IEA IEA OMIM:105210 HPO:skoehler Oct 12, 2012
OMIM:105210 AMYLOIDOSIS VII HP:0001271 Polyneuropathy IEA IEA OMIM:105210 HPO:skoehler Oct 12, 2012
OMIM:105210 #105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED;;HEREDITARY AMYLOIDOSIS, TRANSTHYRETIN-RELATED;;TRANSTHYRETIN AMYLOIDOSIS;;AMYLOID POLYNEUROPATHY, FAMILIAL; FAPAMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED, INCLUDED;;AMYLOID CARDIOMYOPATHY, TRANSTHYRETIN-RELATED, INCLUDED HP:0003812 Phenotypic variability IEA IEA OMIM-CS:MISCELLANEOUS > HIGHLY VARIABLE PHENOTYPE OMIM:105210 HPO:skoehler 17.10.2012
+OMIM:105210 #105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED;;HEREDITARY AMYLOIDOSIS, TRANSTHYRETIN-RELATED;;TRANSTHYRETIN AMYLOIDOSIS;;AMYLOID POLYNEUROPATHY, FAMILIAL; FAPAMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED, INCLUDED;;AMYLOID CARDIOMYOPATHY, TRANSTHYRETIN-RELATED, INCLUDED HP:0011034 Amyloidosis IEA IEA Disease name contained:#105210 amyloidosis, hereditary, transt OMIM:105210 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-105250.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-105250.tab 2015-01-27 20:36:32 UTC (rev 5283)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-105250.tab 2015-01-27 21:31:33 UTC (rev 5284)
@@ -7,3 +7,4 @@
OMIM:105250 AMYLOIDOSIS, PRIMARY CUTANEOUS HP:0003581 Adult onset IEA IEA OMIM:105250 HPO 17.02.2009
OMIM:105250 AMYLOIDOSIS, PRIMARY CUTANEOUS HP:0009830 Peripheral neuropathy IEA IEA OMIM:105250 HPO:skoehler 20.06.2010
OMIM:105250 AMYLOIDOSIS, PRIMARY CUTANEOUS HP:0002459 Dysautonomia IEA IEA NOT NOT OMIM:105250 HPO:skoehler 18.06.2010
+OMIM:105250 AMYLOIDOSIS, PRIMARY CUTANEOUS HP:0011034 Amyloidosis IEA IEA Disease name contained:amyloidosis, primary cutaneous OMIM:105250 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-106190.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-106190.tab 2015-01-27 20:36:32 UTC (rev 5283)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-106190.tab 2015-01-27 21:31:33 UTC (rev 5284)
@@ -2,3 +2,4 @@
OMIM:106190 ANHIDROSIS, FAMILIAL GENERALIZED, WITH NORMAL SWEAT GLANDS HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:106190 HPO 17.02.2009
OMIM:106190 ANHIDROSIS, FAMILIAL GENERALIZED, WITH NORMAL SWEAT GLANDS HP:0007459 Generalized anhidrosis TAS TAS OMIM:106190 HPO:skoehler 17.02.2009
OMIM:106190 ANHIDROSIS, FAMILIAL GENERALIZED, WITH NORMAL SWEAT GLANDS HP:0002046 Heat intolerance TAS TAS OMIM:106190 HPO:skoehler 05.08.2012
+OMIM:106190 ANHIDROSIS, FAMILIAL GENERALIZED, WITH NORMAL SWEAT GLANDS HP:0000970 Anhidrosis IEA IEA Disease name contained:anhidrosis, familial generaliz OMIM:106190 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-106240.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-106240.tab 2015-01-27 20:36:32 UTC (rev 5283)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-106240.tab 2015-01-27 21:31:33 UTC (rev 5284)
@@ -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:106240 ANISOCORIA HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:106240 HPO 17.02.2009
OMIM:106240 ANISOCORIA HP:0000478 Abnormality of the eye IEA IEA OMIM:106240 HPO 17.02.2009
+OMIM:106240 ANISOCORIA HP:0009916 Anisocoria IEA IEA Disease name contained:anisocoria OMIM:106240 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108120.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108120.tab 2015-01-27 20:36:32 UTC (rev 5283)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108120.tab 2015-01-27 21:31:33 UTC (rev 5284)
@@ -20,3 +20,4 @@
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
+OMIM:108120 #108120 ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A;;ARTHROGRYPOSIS, DISTAL, TYPE 1; DA1;;ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I; AMCD1 HP:0002804 Arthrogryposis multiplex congenita IEA IEA Disease name contained:#108120 arthrogryposis, distal, type 1a; d OMIM:108120 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-109560.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-109560.tab 2015-01-27 20:36:32 UTC (rev 5283)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-109560.tab 2015-01-27 21:31:33 UTC (rev 5284)
@@ -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:109560 B-CELL LEUKEMIA/LYMPHOMA 3 HP:0005550 Chronic lymphatic leukemia IEA IEA OMIM:109560 HPO 17.02.2009
+OMIM:109560 B-CELL LEUKEMIA/LYMPHOMA 3 HP:0002665 Lymphoma IEA IEA Disease name contained:b-cell leukemia/lymphoma 3 OMIM:109560 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-109900.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-109900.tab 2015-01-27 20:36:32 UTC (rev 5283)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-109900.tab 2015-01-27 21:31:33 UTC (rev 5284)
@@ -3,3 +3,4 @@
OMIM:109900 BLEPHAROCHALASIS AND DOUBLE LIP HP:0000153 Abnormality of the mouth IEA IEA OMIM:109900 HPO 17.02.2009
OMIM:109900 BLEPHAROCHALASIS AND DOUBLE LIP HP:0000478 Abnormality of the eye IEA IEA OMIM:109900 HPO 17.02.2009
OMIM:109900 BLEPHAROCHALASIS AND DOUBLE LIP HP:0000853 Goiter IEA IEA OMIM:109900 HPO:skoehler 20.06.2010
+OMIM:109900 BLEPHAROCHALASIS AND DOUBLE LIP HP:0010749 Blepharochalasis IEA IEA Disease name contained:blepharochalasis and double lip OMIM:109900 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-112440.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-112440.tab 2015-01-27 20:36:32 UTC (rev 5283)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-112440.tab 2015-01-27 21:31:33 UTC (rev 5284)
@@ -11,3 +11,4 @@
OMIM:112440 BRACHYDACTYLY, COMBINED B AND E TYPES HP:0009280 Short 4th finger TAS TAS OMIM:112440 HPO:probinson Jun 8, 2012
OMIM:112440 BRACHYDACTYLY, COMBINED B AND E TYPES HP:0009237 Short 5th finger TAS TAS OMIM:112440 HPO:probinson Jun 8, 2012
OMIM:112440 %112440 BRACHYDACTYLY, COMBINED B AND E TYPES;;PITT-WILLIAMS BRACHYDACTYLY;;BRACHYDACTYLY, BALLARD TYPE HP:0001598 Concave nail IEA IEA OMIM-CS:SKIN, NAILS, HAIR_NAILS > CONCAVE NAILS (4TH-5TH FINGERS AND TOES) OMIM:112440 HPO:skoehler Nov 16, 2012
+OMIM:112440 %112440 BRACHYDACTYLY, COMBINED B AND E TYPES;;PITT-WILLIAMS BRACHYDACTYLY;;BRACHYDACTYLY, BALLARD TYPE HP:0001156 Brachydactyly syndrome IEA IEA Disease name contained:%112440 brachydactyly, combined b and e t OMIM:112440 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-118330.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-118330.tab 2015-01-27 20:36:32 UTC (rev 5283)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-118330.tab 2015-01-27 21:31:33 UTC (rev 5284)
@@ -2,3 +2,4 @@
OMIM:118330 CHEILITIS GLANDULARIS HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:118330 HPO Feb 17, 2009
OMIM:118330 CHEILITIS GLANDULARIS HP:0000232 Everted lower lip vermilion IEA IEA OMIM:118330 HPO Feb 17, 2009
OMIM:118330 CHEILITIS GLANDULARIS HP:0002860 Squamous cell carcinoma TAS TAS Of lower lip OMIM:118330 HPO:skoehler Jun 20, 2010
+OMIM:118330 CHEILITIS GLANDULARIS HP:0100825 Cheilitis IEA IEA Disease name contained:cheilitis glandularis OMIM:118330 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-118350.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-118350.tab 2015-01-27 20:36:32 UTC (rev 5283)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-118350.tab 2015-01-27 21:31:33 UTC (rev 5284)
@@ -2,3 +2,4 @@
OMIM:118350 CHEMODECTOMA, INTRAABDOMINAL, WITH CUTANEOUS ANGIOLIPOMAS HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:118350 HPO Feb 17, 2009
OMIM:118350 CHEMODECTOMA, INTRAABDOMINAL, WITH CUTANEOUS ANGIOLIPOMAS HP:0006729 Retroperitoneal chemodectomas IEA IEA OMIM:118350 HPO Feb 17, 2009
OMIM:118350 CHEMODECTOMA, INTRAABDOMINAL, WITH CUTANEOUS ANGIOLIPOMAS HP:0006773 Cutaneous angiolipomas IEA IEA OMIM:118350 HPO Feb 17, 2009
+OMIM:118350 CHEMODECTOMA, INTRAABDOMINAL, WITH CUTANEOUS ANGIOLIPOMAS HP:0030074 Chemodectoma IEA IEA Disease name contained:chemodectoma, intraabdominal, wi OMIM:118350 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-122430.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-122430.tab 2015-01-27 20:36:32 UTC (rev 5283)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-122430.tab 2015-01-27 21:31:33 UTC (rev 5284)
@@ -19,3 +19,4 @@
OMIM:122430 122430 CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS,UNUSUAL FACIES, PERSISTENT DUCTUS ARTERIOSUS, AND MENTAL RETARDATION;;RAMOS-ARROYO SYNDROME HP:0011229 Broad eyebrow IEA IEA OMIM-CS:HEAD AND NECK_EYES > FLARED EYEBROWS OMIM:122430 HPO:skoehler 31.05.2013
OMIM:122430 122430 CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS,UNUSUAL FACIES, PERSISTENT DUCTUS ARTERIOSUS, AND MENTAL RETARDATION;;RAMOS-ARROYO SYNDROME HP:0011229 Broad eyebrow IEA IEA OMIM-CS:SKIN, NAILS, HAIR_HAIR > FLARED EYEBROWS OMIM:122430 HPO:skoehler 31.05.2013
OMIM:122430 122430 CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS,UNUSUAL FACIES, PERSISTENT DUCTUS ARTERIOSUS, AND MENTAL RETARDATION;;RAMOS-ARROYO SYNDROME HP:0011800 Midface retrusion IEA IEA OMIM-CS:HEAD AND NECK_FACE > MIDFACE HYPOPLASIA OMIM:122430 HPO:skoehler 28.11.2013
+OMIM:122430 122430 CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS,UNUSUAL FACIES, PERSISTENT DUCTUS ARTERIOSUS, AND MENTAL RETARDATION;;RAMOS-ARROYO SYNDROME HP:0012155 Decreased corneal sensation IEA IEA Disease name contained:122430 corneal hypesthesia with retinal abnorm OMIM:122430 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-123557.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-123557.tab 2015-01-27 20:36:32 UTC (rev 5283)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-123557.tab 2015-01-27 21:31:33 UTC (rev 5284)
@@ -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:123557 CRYPTOTIA, FAMILIAL HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:123557 HPO 17.02.2009
OMIM:123557 CRYPTOTIA, FAMILIAL HP:0000356 Abnormality of the outer ear IEA IEA OMIM:123557 HPO:skoehler 17.02.2009
+OMIM:123557 CRYPTOTIA, FAMILIAL HP:0011252 Cryptotia IEA IEA Disease name contained:cryptotia, familial OMIM:123557 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-123880.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-123880.tab 2015-01-27 20:36:32 UTC (rev 5283)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-123880.tab 2015-01-27 21:31:33 UTC (rev 5284)
@@ -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:123880 CYSTIC ANGIOMATOSIS OF BONE, DIFFUSE HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:123880 HPO 17.02.2009
OMIM:123880 CYSTIC ANGIOMATOSIS OF BONE, DIFFUSE HP:0000924 Abnormality of the musculoskeletal system IEA IEA OMIM:123880 HPO 17.02.2009
+OMIM:123880 CYSTIC ANGIOMATOSIS OF BONE, DIFFUSE HP:0002833 Cystic angiomatosis of bone IEA IEA Disease name contained:cystic angiomatosis of bone, diffuse OMIM:123880 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125400.tab 2015-01-27 20:36:32 UTC (rev 5283)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125400.tab 2015-01-27 21:31:33 UTC (rev 5284)
@@ -6,3 +6,4 @@
OMIM:125400 #125400 DENTIN DYSPLASIA, TYPE I; DTDP1;;DENTIN DYSPLASIA, SHIELDS TYPE I;;ROOTLESS TEETH;;RADICULAR DENTIN DYSPLASIADENTIN DYSPLASIA, TYPE I, WITH EXTREME MICRODONTIA AND MISSHAPEN TEETH,INCLUDED HP:0000691 Microdontia IEA IEA rare OMIM-CS:HEAD AND NECK_TEETH > MICRODONTIA (IN SOME PATIENTS) OMIM:125400 HPO:skoehler 18.11.2012
OMIM:125400 #125400 DENTIN DYSPLASIA, TYPE I; DTDP1;;DENTIN DYSPLASIA, SHIELDS TYPE I;;ROOTLESS TEETH;;RADICULAR DENTIN DYSPLASIADENTIN DYSPLASIA, TYPE I, WITH EXTREME MICRODONTIA AND MISSHAPEN TEETH,INCLUDED HP:0006482 Abnormality of dental morphology IEA IEA rare OMIM-CS:HEAD AND NECK_TEETH > MISSHAPEN TEETH (IN SOME PATIENTS) OMIM:125400 HPO:skoehler 18.11.2012
OMIM:125400 #125400 DENTIN DYSPLASIA, TYPE I; DTDP1;;DENTIN DYSPLASIA, SHIELDS TYPE I;;ROOTLESS TEETH;;RADICULAR DENTIN DYSPLASIADENTIN DYSPLASIA, TYPE I, WITH EXTREME MICRODONTIA AND MISSHAPEN TEETH,INCLUDED HP:0000679 Taurodontia IEA IEA rare OMIM-CS:HEAD AND NECK_TEETH > TAURODONTISM (IN SOME PATIENTS) OMIM:125400 HPO:skoehler 18.11.2012
+OMIM:125400 #125400 DENTIN DYSPLASIA, TYPE I; DTDP1;;DENTIN DYSPLASIA, SHIELDS TYPE I;;ROOTLESS TEETH;;RADICULAR DENTIN DYSPLASIADENTIN DYSPLASIA, TYPE I, WITH EXTREME MICRODONTIA AND MISSHAPEN TEETH,INCLUDED HP:0011060 Dentinogenesis imperfecta limited to primary teeth IEA IEA Disease name contained:#125400 dentin dysplasia, type i; dtdp1;;den OMIM:125400 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125440.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125440.tab 2015-01-27 20:36:32 UTC (rev 5283)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125440.tab 2015-01-27 21:31:33 UTC (rev 5284)
@@ -2,3 +2,4 @@
OMIM:125440 DENTIN DYSPLASIA WITH SCLEROTIC BONES HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:125440 HPO 17.02.2009
OMIM:125440 DENTIN DYSPLASIA WITH SCLEROTIC BONES HP:0000164 Abnormality of the teeth IEA IEA OMIM:125440 HPO 17.02.2009
OMIM:125440 DENTIN DYSPLASIA WITH SCLEROTIC BONES HP:0005652 Cortical sclerosis IEA IEA OMIM:125440 HPO 17.02.2009
+OMIM:125440 DENTIN DYSPLASIA WITH SCLEROTIC BONES HP:0011060 Dentinogenesis imperfecta limited to primary teeth IEA IEA Disease name contained:dentin dysplasia with sclerotic bone OMIM:125440 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-126600.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-126600.tab 2015-01-27 20:36:32 UTC (rev 5283)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-126600.tab 2015-01-27 21:31:33 UTC (rev 5284)
@@ -2,3 +2,4 @@
OMIM:126600 DOYNE HONEYCOMB RETINAL DYSTROPHY HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:126600 HPO 17.02.2009
OMIM:126600 DOYNE HONEYCOMB RETINAL DYSTROPHY HP:0007937 Honeycomb retinal degeneration IEA IEA OMIM:126600 HPO 17.02.2009
OMIM:126600 DOYNE HONEYCOMB RETINAL DYSTROPHY HP:0000556 Retinal dystrophy IEA IEA Disease name contained:doyne honeycomb retinal dystrophy OMIM:126600 HPO:skoehler 27.01.2015
+OMIM:126600 DOYNE HONEYCOMB RETINAL DYSTROPHY HP:0000556 Retinal dystrophy IEA IEA Disease name contained:doyne honeycomb retinal dystrophy OMIM:126600 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-131450.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-131450.tab 2015-01-27 20:36:32 UTC (rev 5283)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-131450.tab 2015-01-27 21:31:33 UTC (rev 5284)
@@ -3,3 +3,4 @@
OMIM:131450 EPIBLEPHARON OF LOWER LID HP:0011225 Epiblepharon TAS TAS Disease name contained:epiblepharon of lower lid OMIM:131450 HPO:skoehler 21.01.2015
OMIM:131450 EPIBLEPHARON OF LOWER LID HP:0040151 Epiblepharon of lower lid IEA IEA Disease name contained:epiblepharon of lower lid OMIM:131450 HPO:skoehler 27.01.2015
+OMIM:131450 EPIBLEPHARON OF LOWER LID HP:0040151 Epiblepharon of lower lid IEA IEA Disease name contained:epiblepharon of lower lid OMIM:131450 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-131460.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-131460.tab 2015-01-27 20:36:32 UTC (rev 5283)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-131460.tab 2015-01-27 21:31:33 UTC (rev 5284)
@@ -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:131460 EPIBLEPHARON OF UPPER LID HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:131460 HPO 17.02.2009
OMIM:131460 EPIBLEPHARON OF UPPER LID HP:0000478 Abnormality of the eye IEA IEA OMIM:131460 HPO 17.02.2009
+OMIM:131460 EPIBLEPHARON OF UPPER LID HP:0040150 Epiblepharon of upper lid IEA IEA Disease name contained:epiblepharon of upper lid OMIM:131460 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-132990.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-132990.tab 2015-01-27 20:36:32 UTC (rev 5283)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-132990.tab 2015-01-27 21:31:33 UTC (rev 5284)
@@ -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:132990 ERYTHEMA NODOSUM, FAMILIAL HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:132990 HPO 17.02.2009
OMIM:132990 ERYTHEMA NODOSUM, FAMILIAL HP:0010783 Erythema IEA IEA OMIM:132990 HPO:skoehler 20.06.2010
+OMIM:132990 ERYTHEMA NODOSUM, FAMILIAL HP:0012219 Erythema nodosum IEA IEA Disease name contained:erythema nodosum, familial OMIM:132990 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-133600.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-133600.tab 2015-01-27 20:36:32 UTC (rev 5283)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-133600.tab 2015-01-27 21:31:33 UTC (rev 5284)
@@ -2,3 +2,4 @@
OMIM:133600 EXOSTOSES OF HEEL HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:133600 HPO 17.02.2009
OMIM:133600 EXOSTOSES OF HEEL HP:0000924 Abnormality of the musculoskeletal system IEA IEA OMIM:133600 HPO 17.02.2009
OMIM:133600 EXOSTOSES OF HEEL HP:0100777 Exostoses IEA IEA Disease name contained:exostoses of heel OMIM:133600 HPO:skoehler 27.01.2015
+OMIM:133600 EXOSTOSES OF HEEL HP:0100777 Exostoses IEA IEA Disease name contained:exostoses of heel OMIM:133600 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137215.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137215.tab 2015-01-27 20:36:32 UTC (rev 5283)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137215.tab 2015-01-27 21:31:33 UTC (rev 5284)
@@ -4,3 +4,4 @@
OMIM:137215 #137215 GASTRIC CANCER, HEREDITARY DIFFUSE; HDGC;;GASTRIC CANCER, FAMILIAL DIFFUSEGASTRIC CANCER, FAMILIAL DIFFUSE, AND CLEFT LIP WITH OR WITHOUT CLEFTPALATE, INCLUDED HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT OMIM:137215 HPO:skoehler 17.10.2012
OMIM:137215 #137215 GASTRIC CANCER, HEREDITARY DIFFUSE; HDGC;;GASTRIC CANCER, FAMILIAL DIFFUSEGASTRIC CANCER, FAMILIAL DIFFUSE, AND CLEFT LIP WITH OR WITHOUT CLEFTPALATE, INCLUDED HP:0000204 Cleft upper lip IEA IEA rare OMIM-CS:HEAD AND NECK_MOUTH > CLEFT LIP (IN SOME PATIENTS) OMIM:137215 HPO:skoehler 18.11.2012
OMIM:137215 #137215 GASTRIC CANCER, HEREDITARY DIFFUSE; HDGC;;GASTRIC CANCER, FAMILIAL DIFFUSEGASTRIC CANCER, FAMILIAL DIFFUSE, AND CLEFT LIP WITH OR WITHOUT CLEFTPALATE, INCLUDED HP:0000175 Cleft palate IEA IEA rare OMIM-CS:HEAD AND NECK_MOUTH > CLEFT PALATE (IN SOME PATIENTS) OMIM:137215 HPO:skoehler 18.11.2012
+OMIM:137215 #137215 GASTRIC CANCER, HEREDITARY DIFFUSE; HDGC;;GASTRIC CANCER, FAMILIAL DIFFUSEGASTRIC CANCER, FAMILIAL DIFFUSE, AND CLEFT LIP WITH OR WITHOUT CLEFTPALATE, INCLUDED HP:0012126 Stomach cancer IEA IEA Disease name contained:#137215 gastric cancer, hereditary diffuse OMIM:137215 HPO:skoehler 27.01.2015
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137763.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137763.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137763.tab 2015-01-27 21:31:33 UTC (rev 5284)
@@ -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:137763 GLAUCOMA - SLEEP APNEA HP:0010535 Sleep apnea IEA IEA Disease name contained:glaucoma - sleep apnea OMIM:137763 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137950.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137950.tab 2015-01-27 20:36:32 UTC (rev 5283)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137950.tab 2015-01-27 21:31:33 UTC (rev 5284)
@@ -10,3 +10,4 @@
OMIM:137950 %137950 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 1; GFND1;;GLOMERULOPATHY WITH GIANT FIBRILLAR DEPOSITS;;LOBULAR GLOMERULOPATHY, FAMILIAL HP:0003677 Slow progression IEA IEA OMIM-CS:MISCELLANEOUS > SLOW PROGRESSION OMIM:137950 HPO:skoehler 17.10.2012
OMIM:137950 %137950 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 1; GFND1;;GLOMERULOPATHY WITH GIANT FIBRILLAR DEPOSITS;;LOBULAR GLOMERULOPATHY, FAMILIAL HP:0008636 Lobular glomerulopathy IEA IEA Disease name contained: deposits 1; gfnd1;;glomerulopathy with giant fibrilla OMIM:137950 HPO:skoehler 21.01.2015
+OMIM:137950 %137950 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 1; GFND1;;GLOMERULOPATHY WITH GIANT FIBRILLAR DEPOSITS;;LOBULAR GLOMERULOPATHY, FAMILIAL HP:0100820 Glomerulopathy IEA IEA Disease name contained:%137950 glomerulopathy with fibronectin de OMIM:137950 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-142395.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-142395.tab 2015-01-27 20:36:32 UTC (rev 5283)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-142395.tab 2015-01-27 21:31:33 UTC (rev 5284)
@@ -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:142395 HEPATITIS B VACCINE, RESPONSE TO HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:142395 HPO 17.02.2009
OMIM:142395 HEPATITIS B VACCINE, RESPONSE TO HP:0002715 Abnormality of the immune system IEA IEA OMIM:142395 HPO 17.02.2009
+OMIM:142395 HEPATITIS B VACCINE, RESPONSE TO HP:0012115 Hepatitis IEA IEA Disease name contained:hepatitis b vaccine, response OMIM:142395 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-142625.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-142625.tab 2015-01-27 20:36:32 UTC (rev 5283)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-142625.tab 2015-01-27 21:31:33 UTC (rev 5284)
@@ -13,3 +13,4 @@
OMIM:142625 HIRSUTISM--SKELETAL DYSPLASIA--MENTAL RETARDATION SYNDROME HP:0001761 Pes cavus IEA IEA OMIM:142625 HPO Feb 17, 2009
OMIM:142625 HIRSUTISM--SKELETAL DYSPLASIA--MENTAL RETARDATION SYNDROME HP:0002673 Coxa valga IEA IEA OMIM:142625 HPO Feb 17, 2009
OMIM:142625 HIRSUTISM--SKELETAL DYSPLASIA--MENTAL RETARDATION SYNDROME HP:0002149 Hyperuricemia TAS TAS OMIM:142625 HPO:probinson Mar 11, 2013
+OMIM:142625 HIRSUTISM--SKELETAL DYSPLASIA--MENTAL RETARDATION SYNDROME HP:0002652 Skeletal dysplasia IEA IEA Disease name contained:hirsutism--skeletal dysplasia--mental retardation OMIM:142625 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-143400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-143400.tab 2015-01-27 20:36:32 UTC (rev 5283)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-143400.tab 2015-01-27 21:31:33 UTC (rev 5284)
@@ -6,3 +6,4 @@
OMIM:143400 MULTICYSTIC RENAL DYSPLASIA, BILATERAL HP:0000126 Hydronephrosis IEA IEA OMIM:143400 HPO Feb 17, 2009
OMIM:143400 MULTICYSTIC RENAL DYSPLASIA, BILATERAL HP:0008663 Renal sarcoma IEA IEA OMIM:143400 HPO Feb 17, 2009
OMIM:143400 MULTICYSTIC RENAL DYSPLASIA, BILATERAL HP:0008676 Congenital megaloureter IEA IEA OMIM:143400 HPO Feb 17, 2009
+OMIM:143400 MULTICYSTIC RENAL DYSPLASIA, BILATERAL HP:0000800 Cystic renal dysplasia IEA IEA Disease name contained:multicystic renal dysplasia, bilateral OMIM:143400 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-143890.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-143890.tab 2015-01-27 20:36:32 UTC (rev 5283)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-143890.tab 2015-01-27 21:31:33 UTC (rev 5284)
@@ -1,3 +1,4 @@
Disease ID Disease Na...
[truncated message content] |
|
From: <koe...@us...> - 2015-01-27 20:36:35
|
Revision: 5283
http://sourceforge.net/p/obo/svn/5283
Author: koehlers
Date: 2015-01-27 20:36:32 +0000 (Tue, 27 Jan 2015)
Log Message:
-----------
more manual annotation additions
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-126600.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-131440.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-151100.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-164400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-166400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184000.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184260.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-188050.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-204900.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-208500.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-221900.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-228900.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-234810.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-236792.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-253300.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-253400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-253600.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-257270.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-259550.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-259650.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-268060.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300033.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300700.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300848.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300888.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-502500.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600195.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604379.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606159.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608354.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609404.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610247.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612526.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613385.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613496.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613668.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614103.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614135.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614482.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614487.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614514.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614521.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614595.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614617.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614899.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615048.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615290.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615382.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615643.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615758.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616005.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616030.tab
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-277990.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608203.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611863.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-126600.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-126600.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-126600.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -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:126600 DOYNE HONEYCOMB RETINAL DYSTROPHY HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:126600 HPO 17.02.2009
OMIM:126600 DOYNE HONEYCOMB RETINAL DYSTROPHY HP:0007937 Honeycomb retinal degeneration IEA IEA OMIM:126600 HPO 17.02.2009
+OMIM:126600 DOYNE HONEYCOMB RETINAL DYSTROPHY HP:0000556 Retinal dystrophy IEA IEA Disease name contained:doyne honeycomb retinal dystrophy OMIM:126600 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-131440.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-131440.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-131440.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -2,3 +2,4 @@
OMIM:131440 MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:131440 HPO:skoehler Feb 17, 2009
OMIM:131440 MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA HP:0005547 Myeloproliferative disorder TAS TAS OMIM:131440 HPO:skoehler Feb 17, 2009
OMIM:131440 MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA HP:0006782 Malignant eosinophil proliferation TAS TAS OMIM:131440 HPO:skoehler Feb 17, 2009
+OMIM:131440 MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA HP:0001880 Eosinophilia IEA IEA Disease name contained:rder, chronic, with eosinophilia OMIM:131440 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-151100.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-151100.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-151100.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -40,3 +40,4 @@
OMIM:151100 LEOPARD SYNDROME 1 HP:0011710 Bundle branch block TAS TAS OMIM:151100 HPO:probinson Jul 19, 2012
OMIM:151100 LEOPARD SYNDROME 1 HP:0012569 Delayed menarche TAS TAS OMIM:151100 HPO:probinson Jan 8, 2014
OMIM:151100 #151100 LEOPARD SYNDROME 1;;LENTIGINOSIS, CARDIOMYOPATHIC;;MULTIPLE LENTIGINES SYNDROME HP:0010463 Aplasia of the ovary IEA IEA OMIM-CS:GENITOURINARY_INTERNAL GENITALIA, FEMALE > ABSENT OVARY OMIM:151100 HPO:skoehler 24.03.2014
+OMIM:151100 #151100 LEOPARD SYNDROME 1;;LENTIGINOSIS, CARDIOMYOPATHIC;;MULTIPLE LENTIGINES SYNDROME HP:0001003 Multiple lentigines IEA IEA Disease name contained:s, cardiomyopathic;;multiple lentigines syndrome OMIM:151100 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-164400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-164400.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-164400.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -39,3 +39,4 @@
OMIM:164400 #164400 SPINOCEREBELLAR ATAXIA 1; SCA1;;SPINOCEREBELLAR ATROPHY I;;OLIVOPONTOCEREBELLAR ATROPHY I; OPCA I; OPCA1;;CEREBELLOPARENCHYMAL DISORDER I; CPD1;;MENZEL TYPE OPCA;;OLIVOPONTOCEREBELLAR ATROPHY IV; OPCA IV; OPCA4;;SCHUT-HAYMAKER TYPE OPCA HP:0002495 Impaired vibratory sensation IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > DECREASED VIBRATION SENSE OMIM:164400 HPO:skoehler 17.07.2013
OMIM:164400 #164400 SPINOCEREBELLAR ATAXIA 1; SCA1;;SPINOCEREBELLAR ATROPHY I;;OLIVOPONTOCEREBELLAR ATROPHY I; OPCA I; OPCA1;;CEREBELLOPARENCHYMAL DISORDER I; CPD1;;MENZEL TYPE OPCA;;OLIVOPONTOCEREBELLAR ATROPHY IV; OPCA IV; OPCA4;;SCHUT-HAYMAKER TYPE OPCA HP:0003693 Distal amyotrophy IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > DISTAL MUSCLE ATROPHY OMIM:164400 HPO:skoehler 17.07.2013
OMIM:164400 #164400 SPINOCEREBELLAR ATAXIA 1; SCA1;;SPINOCEREBELLAR ATROPHY I;;OLIVOPONTOCEREBELLAR ATROPHY I; OPCA I; OPCA1;;CEREBELLOPARENCHYMAL DISORDER I; CPD1;;MENZEL TYPE OPCA;;OLIVOPONTOCEREBELLAR ATROPHY IV; OPCA IV; OPCA4;;SCHUT-HAYMAKER TYPE OPCA HP:0009830 Peripheral neuropathy IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > PERIPHERAL NEUROPATHY OMIM:164400 HPO:skoehler 17.07.2013
+OMIM:164400 #164400 SPINOCEREBELLAR ATAXIA 1; SCA1;;SPINOCEREBELLAR ATROPHY I;;OLIVOPONTOCEREBELLAR ATROPHY I; OPCA I; OPCA1;;CEREBELLOPARENCHYMAL DISORDER I; CPD1;;MENZEL TYPE OPCA;;OLIVOPONTOCEREBELLAR ATROPHY IV; OPCA IV; OPCA4;;SCHUT-HAYMAKER TYPE OPCA HP:0007263 Spinocerebellar atrophy IEA IEA Disease name contained:lar ataxia 1; sca1;;spinocerebellar atrophy i;;olivopontocerebe OMIM:164400 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-166400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-166400.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-166400.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -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:166400 OSTEOMAS OF MANDIBLE HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:166400 HPO 17.02.2009
OMIM:166400 OSTEOMAS OF MANDIBLE HP:0000277 Abnormality of the mandible IEA IEA OMIM:166400 HPO 17.02.2009
+OMIM:166400 OSTEOMAS OF MANDIBLE HP:0100246 Osteoma IEA IEA Disease name contained:osteomas of mandible OMIM:166400 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184000.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184000.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184000.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -14,3 +14,4 @@
OMIM:184000 184000 SPONDYLOEPIPHYSEAL DYSPLASIA, MYOPIA, AND SENSORINEURAL DEAFNESS HP:0008812 Flattened femoral head IEA IEA OMIM-CS:SKELETAL_PELVIS > FLATTENED FEMORAL HEADS OMIM:184000 HPO:skoehler 31.05.2013
OMIM:184000 184000 SPONDYLOEPIPHYSEAL DYSPLASIA, MYOPIA, AND SENSORINEURAL DEAFNESS HP:0002938 Lumbar hyperlordosis IEA IEA MODIFIER:MILD;OMIM-CS:SKELETAL_SPINE > LUMBAR LORDOSIS, MILD OMIM:184000 HPO:skoehler 06.06.2013
OMIM:184000 184000 SPONDYLOEPIPHYSEAL DYSPLASIA, MYOPIA, AND SENSORINEURAL DEAFNESS HP:0030084 Clinodactyly IEA IEA OMIM-CS:SKELETAL_HANDS > CLINODACTYLY OMIM:184000 HPO:skoehler 21.09.2014
+OMIM:184000 184000 SPONDYLOEPIPHYSEAL DYSPLASIA, MYOPIA, AND SENSORINEURAL DEAFNESS HP:0002655 Spondyloepiphyseal dysplasia IEA IEA Disease name contained:184000 spondyloepiphyseal dysplasia, myopia, and sensor OMIM:184000 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184260.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184260.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184260.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -30,3 +30,4 @@
OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0010582 Irregular epiphyses TAS TAS OMIM:184260 HPO:probinson 18.06.2012
OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0010585 Small epiphyses TAS TAS OMIM:184260 HPO:probinson 18.06.2012
OMIM:184260 184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA;;GOLDBLATT SYNDROME;;ODONTOCHONDRODYSPLASIA; ODCD HP:0011220 Prominent forehead IEA IEA OMIM-CS:HEAD AND NECK_FACE > PROMINENT FOREHEAD OMIM:184260 HPO:skoehler 17.10.2012
+OMIM:184260 184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA;;GOLDBLATT SYNDROME;;ODONTOCHONDRODYSPLASIA; ODCD HP:0002657 Spondylometaphyseal dysplasia IEA IEA Disease name contained:184260 spondylometaphyseal dysplasia with dentinogenesis OMIM:184260 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-188050.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-188050.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-188050.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -5,3 +5,4 @@
OMIM:188050 THROMBOPHILIAVENOUS THROMBOEMBOLISM, INCLUDED HP:0002204 Pulmonary embolism TAS TAS OMIM:188050 HPO:probinson 21.07.2012
OMIM:188050 THROMBOPHILIAVENOUS THROMBOEMBOLISM, INCLUDED HP:0005305 Cerebral venous thrombosis TAS TAS OMIM:188050 HPO:probinson 21.07.2012
OMIM:188050 THROMBOPHILIAVENOUS THROMBOEMBOLISM, INCLUDED HP:0011463 Childhood onset TAS TAS OMIM:188050 HPO:probinson 21.07.2012
+OMIM:188050 THROMBOPHILIAVENOUS THROMBOEMBOLISM, INCLUDED HP:0001907 Thromboembolism IEA IEA Disease name contained:thrombophiliavenous thromboembolism, included OMIM:188050 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-204900.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-204900.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-204900.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -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:204900 AMYLOIDOSIS, CUTANEOUS BULLOUS HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:204900 HPO 17.02.2009
OMIM:204900 AMYLOIDOSIS, CUTANEOUS BULLOUS HP:0000951 Abnormality of the skin IEA IEA OMIM:204900 HPO 17.02.2009
+OMIM:204900 AMYLOIDOSIS, CUTANEOUS BULLOUS HP:0011034 Amyloidosis IEA IEA Disease name contained:amyloidosis, cutaneous bullous OMIM:204900 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-208500.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-208500.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-208500.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -34,3 +34,4 @@
OMIM:208500 %208500 ASPHYXIATING THORACIC DYSTROPHY 1; ATD1;;JEUNE SYNDROME;;THORACIC-PELVIC-PHALANGEAL DYSTROPHY HP:0003828 Variable expressivity IEA IEA OMIM-CS:MISCELLANEOUS > VARIABLE SEVERITY OMIM:208500 HPO:skoehler Apr 18, 2013
OMIM:208500 ASPHYXIATING THORACIC DYSTROPHY 1 HP:0012622 Chronic kidney disease TAS TAS OMIM:208500 HPO:probinson Jan 19, 2014
OMIM:208500 %208500 SHORT-RIB THORACIC DYSPLASIA 1 WITH OR WITHOUT POLYDACTYLY; SRTD1;;ASPHYXIATING THORACIC DYSTROPHY 1; ATD1;;JEUNE SYNDROME;;THORACIC-PELVIC-PHALANGEAL DYSTROPHY HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY OMIM:208500 HPO:skoehler 26.11.2014
+OMIM:208500 %208500 SHORT-RIB THORACIC DYSPLASIA 1 WITH OR WITHOUT POLYDACTYLY; SRTD1;;ASPHYXIATING THORACIC DYSTROPHY 1; ATD1;;JEUNE SYNDROME;;THORACIC-PELVIC-PHALANGEAL DYSTROPHY HP:0006644 Thoracic dysplasia IEA IEA Disease name contained:%208500 short-rib thoracic dysplasia 1 with or without p OMIM:208500 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-221900.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-221900.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-221900.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -17,3 +17,4 @@
OMIM:221900 #221900 PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE; PHPVAR;;RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL; RNANC; NCRNA;;RETINAL NONATTACHMENT AND FALCIFORM DETACHMENT;;PERSISTENT FETAL VASCULATURE HP:0000554 Uveitis IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > UVEITIS (RARE) OMIM:221900 HPO:skoehler 21.09.2014
OMIM:221900 #221900 PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE; PHPVAR;;RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL; RNANC; NCRNA;;RETINAL NONATTACHMENT AND FALCIFORM DETACHMENT;;PERSISTENT FETAL VASCULATURE HP:0007957 Corneal opacity IEA IEA OMIM-CS:HEAD AND NECK_EYES > CORNEAL OPACITIES OMIM:221900 HPO:skoehler 26.11.2014
OMIM:221900 #221900 PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE; PHPVAR;;RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL; RNANC; NCRNA;;RETINAL NONATTACHMENT AND FALCIFORM DETACHMENT;;PERSISTENT FETAL VASCULATURE HP:0011484 Posterior synechiae of the anterior chamber IEA IEA OMIM-CS:HEAD AND NECK_EYES > POSTERIOR SYNECHIAE OMIM:221900 HPO:skoehler 26.11.2014
+OMIM:221900 #221900 PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE; PHPVAR;;RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL; RNANC; NCRNA;;RETINAL NONATTACHMENT AND FALCIFORM DETACHMENT;;PERSISTENT FETAL VASCULATURE HP:0007968 Persistent hyperplastic primary vitreous IEA IEA Disease name contained:#221900 persistent hyperplastic primary vitreous, autosomal recessiv OMIM:221900 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-228900.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-228900.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-228900.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -15,3 +15,4 @@
MIM:228900 FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY MIM:601146 GROWTH/DIFFERENTIATION FACTOR 5 LIPOPOLYSACCHARIDE-ASSOCIATED PROTEIN 4 LPS-ASSOCIATED PROTEIN 4 MIM:601146 / MIM:601146 GDF5 HP:0002999 Dislocation of patella PCS PCS typical PMID:12121354 HPO 09.07.2010
MIM:228900 FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY MIM:601146 GROWTH/DIFFERENTIATION FACTOR 5 LIPOPOLYSACCHARIDE-ASSOCIATED PROTEIN 4 LPS-ASSOCIATED PROTEIN 4 MIM:601146 / MIM:601146 GDF5 HP:0004097 Deviated fingers PCS PCS typical PMID:12121354 HPO 09.07.2010
OMIM:228900 #228900 FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY;;DU PAN SYNDROME HP:0010624 Aplastic/hypoplastic toenails IEA IEA OMIM-CS:SKIN, NAILS, HAIR_NAILS > HYPOPLASTIC-ABSENT TOENAILS OMIM:228900 HPO:skoehler 17.10.2012
+OMIM:228900 #228900 FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY;;DU PAN SYNDROME HP:0003038 Fibular hypoplasia IEA IEA Disease name contained:#228900 fibular hypoplasia and complex brachyd OMIM:228900 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-234810.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-234810.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-234810.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -4,3 +4,4 @@
OMIM:234810 HEMANGIOMATOSIS, FAMILIAL PULMONARY CAPILLARY HP:0005954 Pulmonary capillary hemangiomatosis TAS TAS OMIM:234810 HPO:skoehler Feb 17, 2009
OMIM:234810 #234810 PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2;;HEMANGIOMATOSIS, FAMILIAL PULMONARY CAPILLARY HP:0012735 Cough IEA IEA OMIM-CS:RESPIRATORY > COUGH OMIM:234810 HPO:skoehler 13.04.2014
OMIM:234810 #234810 PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2;;HEMANGIOMATOSIS, FAMILIAL PULMONARY CAPILLARY HP:0002094 Dyspnea IEA IEA OMIM-CS:RESPIRATORY > DYSPNEA OMIM:234810 HPO:skoehler 13.04.2014
+OMIM:234810 #234810 PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2;;HEMANGIOMATOSIS, FAMILIAL PULMONARY CAPILLARY HP:0006518 Pulmonary venoocclusive disease IEA IEA Disease name contained:#234810 pulmonary venoocclusive disease 2, autosomal recess OMIM:234810 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-236792.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-236792.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-236792.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -21,3 +21,5 @@
OMIM:236792 L-2-HYDROXYGLUTARIC ACIDURIA HP:0007371 Atrophy/Degeneration of the corpus callosum IEA IEA OMIM:236792 HPO 17.02.2009
OMIM:236792 #236792 L-2-HYDROXYGLUTARIC ACIDURIA;;L-2-HYDROXYGLUTARIC ACIDEMIA HP:0010864 Intellectual disability, severe IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, SEVERE OMIM:236792 HPO:skoehler 17.10.2012
OMIM:236792 #236792 L-2-HYDROXYGLUTARIC ACIDURIA;;L-2-HYDROXYGLUTARIC ACIDEMIA HP:0007256 Abnormal pyramidal signs IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PYRAMIDAL SIGNS OMIM:236792 HPO:skoehler 04.01.2015
+OMIM:236792 #236792 L-2-HYDROXYGLUTARIC ACIDURIA;;L-2-HYDROXYGLUTARIC ACIDEMIA HP:0040147 L-2-hydroxyglutaric acidemia IEA IEA Disease name contained:yglutaric aciduria;;l-2-hydroxyglutaric acidemia OMIM:236792 HPO:skoehler 27.01.2015
+OMIM:236792 #236792 L-2-HYDROXYGLUTARIC ACIDURIA;;L-2-HYDROXYGLUTARIC ACIDEMIA HP:0040144 L-2-hydroxyglutaric aciduria IEA IEA Disease name contained:#236792 l-2-hydroxyglutaric aciduria;;l-2-hydroxyglutari OMIM:236792 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-253300.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-253300.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-253300.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -12,3 +12,4 @@
OMIM:253300 SPINAL MUSCULAR ATROPHY, TYPE I HP:0007126 Proximal amyotrophy TAS TAS OMIM:253300 HPO:probinson 27.04.2012
OMIM:253300 SPINAL MUSCULAR ATROPHY, TYPE I HP:0001308 Tongue fasciculations TAS TAS OMIM:253300 HPO:probinson 27.04.2012
OMIM:253300 #253300 SPINAL MUSCULAR ATROPHY, TYPE I; SMA1;;SMA I;;SMA, INFANTILE ACUTE FORM;;MUSCULAR ATROPHY, INFANTILE;;WERDNIG-HOFFMANN DISEASE HP:0002878 Respiratory failure IEA IEA OMIM-CS:RESPIRATORY > RESPIRATORY FAILURE OMIM:253300 HPO:skoehler 24.06.2014
+OMIM:253300 #253300 SPINAL MUSCULAR ATROPHY, TYPE I; SMA1;;SMA I;;SMA, INFANTILE ACUTE FORM;;MUSCULAR ATROPHY, INFANTILE;;WERDNIG-HOFFMANN DISEASE HP:0007269 Spinal muscular atrophy IEA IEA Disease name contained:#253300 spinal muscular atrophy, type i; sma1;;sma OMIM:253300 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-253400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-253400.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-253400.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -11,3 +11,4 @@
OMIM:253400 #253400 SPINAL MUSCULAR ATROPHY, TYPE III; SMA3;;SMA III;;MUSCULAR ATROPHY, JUVENILE;;KUGELBERG-WELANDER SYNDROME; KWS;;SPINAL MUSCULAR ATROPHY, MILD CHILDHOOD AND ADOLESCENT FORM HP:0003394 Muscle cramps IEA IEA OMIM-CS:MUSCLE > MUSCLE CRAMPS OMIM:253400 HPO:skoehler 21.01.2013
OMIM:253400 #253400 SPINAL MUSCULAR ATROPHY, TYPE III; SMA3;;SMA III;;MUSCULAR ATROPHY, JUVENILE;;KUGELBERG-WELANDER SYNDROME; KWS;;SPINAL MUSCULAR ATROPHY, MILD CHILDHOOD AND ADOLESCENT FORM HP:0002522 Areflexia of lower limbs IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > AREFLEXIA OF THE LOWER LIMBS OMIM:253400 HPO:skoehler 21.01.2013
OMIM:253400 #253400 SPINAL MUSCULAR ATROPHY, TYPE III; SMA3;;SMA III;;MUSCULAR ATROPHY, JUVENILE;;KUGELBERG-WELANDER SYNDROME; KWS;;SPINAL MUSCULAR ATROPHY, MILD CHILDHOOD AND ADOLESCENT FORM HP:0001265 Hyporeflexia IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > HYPOREFLEXIA OMIM:253400 HPO:skoehler 21.01.2013
+OMIM:253400 #253400 SPINAL MUSCULAR ATROPHY, TYPE III; SMA3;;SMA III;;MUSCULAR ATROPHY, JUVENILE;;KUGELBERG-WELANDER SYNDROME; KWS;;SPINAL MUSCULAR ATROPHY, MILD CHILDHOOD AND ADOLESCENT FORM HP:0007269 Spinal muscular atrophy IEA IEA Disease name contained:#253400 spinal muscular atrophy, type iii; sma3;;sm OMIM:253400 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-253600.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-253600.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-253600.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -8,3 +8,4 @@
OMIM:253600 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A HP:0003691 Scapular winging IEA IEA OMIM:253600 HPO 17.02.2009
OMIM:253600 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A HP:0008980 Symmetric proximal muscular atrophy IEA IEA OMIM:253600 HPO 17.02.2009
OMIM:253600 #253600 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A;;MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2; LGMD2;;MUSCULAR DYSTROPHY, PELVOFEMORAL;;LEYDEN-MOEBIUS MUSCULAR DYSTROPHY;;CALPAINOPATHYMYOSITIS, EOSINOPHILIC, INCLUDED HP:0010628 Facial palsy IEA IEA rare OMIM-CS:HEAD AND NECK_FACE > FACIAL WEAKNESS (LESS COMMON) OMIM:253600 HPO:skoehler 18.11.2012
+OMIM:253600 #253600 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A;;MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2; LGMD2;;MUSCULAR DYSTROPHY, PELVOFEMORAL;;LEYDEN-MOEBIUS MUSCULAR DYSTROPHY;;CALPAINOPATHYMYOSITIS, EOSINOPHILIC, INCLUDED HP:0003560 Muscular dystrophy IEA IEA Disease name contained:e, type 2a; lgmd2a;;muscular dystrophy, limb-girdle, type OMIM:253600 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-257270.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-257270.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-257270.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -3,3 +3,4 @@
OMIM:257270 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B HP:0000545 Myopia IEA IEA OMIM:257270 HPO 17.02.2009
OMIM:257270 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B HP:0000662 Night blindness IEA IEA OMIM:257270 HPO 17.02.2009
OMIM:257270 #257270 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B; CSNB1B;;NIGHT BLINDNESS, CONGENITAL STATIONARY, COMPLETE, AUTOSOMAL RECESSIVE;;CSNB, COMPLETE, AUTOSOMAL RECESSIVE HP:0012047 Hemeralopia IEA IEA OMIM-CS:HEENT > HEMERALOPIA OMIM:257270 HPO:skoehler 17.10.2012
+OMIM:257270 #257270 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B; CSNB1B;;NIGHT BLINDNESS, CONGENITAL STATIONARY, COMPLETE, AUTOSOMAL RECESSIVE;;CSNB, COMPLETE, AUTOSOMAL RECESSIVE HP:0007642 Congenital stationary night blindness IEA IEA Disease name contained:y, type 1b; csnb1b;;night blindness, congenital station OMIM:257270 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-259550.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-259550.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-259550.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -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:259550 OSTEOID OSTEOMA HP:0000924 Abnormality of the musculoskeletal system IEA IEA OMIM:259550 HPO 17.02.2009
+OMIM:259550 OSTEOID OSTEOMA HP:0100246 Osteoma IEA IEA Disease name contained:osteoid osteoma OMIM:259550 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-259650.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-259650.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-259650.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -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:259650 OSTEOMA OF MIDDLE EAR HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:259650 HPO 17.02.2009
OMIM:259650 OSTEOMA OF MIDDLE EAR HP:0000598 Abnormality of the ear IEA IEA OMIM:259650 HPO 17.02.2009
+OMIM:259650 OSTEOMA OF MIDDLE EAR HP:0100246 Osteoma IEA IEA Disease name contained:osteoma of middle ear OMIM:259650 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-268060.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-268060.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-268060.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -4,3 +4,4 @@
OMIM:268060 RETINOPATHY, PERICENTRAL PIGMENTARY, AUTOSOMAL RECESSIVE HP:0000486 Strabismus IEA IEA OMIM:268060 HPO 17.02.2009
OMIM:268060 RETINOPATHY, PERICENTRAL PIGMENTARY, AUTOSOMAL RECESSIVE HP:0000540 Hypermetropia IEA IEA OMIM:268060 HPO 17.02.2009
OMIM:268060 RETINOPATHY, PERICENTRAL PIGMENTARY, AUTOSOMAL RECESSIVE HP:0007852 Pericentral pigmentary retinopathy IEA IEA OMIM:268060 HPO 17.02.2009
+OMIM:268060 RETINOPATHY, PERICENTRAL PIGMENTARY, AUTOSOMAL RECESSIVE HP:0000488 Retinopathy IEA IEA Disease name contained:retinopathy, pericentral pigmen OMIM:268060 HPO:skoehler 27.01.2015
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-277990.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-277990.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-277990.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -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:277990 INTELLECTUAL DISABILITY, WOLFF TYPE HP:0001249 Intellectual disability IEA IEA Disease name contained:intellectual disability, wolff type OMIM:277990 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300033.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300033.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300033.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -2,3 +2,4 @@
OMIM:300033 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 7 HP:0001417 X-linked inheritance IEA IEA OMIM:300033 HPO 17.02.2009
OMIM:300033 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 7 HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:300033 HPO 17.02.2009
OMIM:300033 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 7 HP:0002664 Neoplasm IEA IEA OMIM:300033 HPO 17.02.2009
+OMIM:300033 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 7 HP:0001909 Leukemia IEA IEA Disease name contained:id or mixed lineage leukemia, translocated to, 7 OMIM:300033 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300700.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300700.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300700.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -7,3 +7,4 @@
OMIM:300700 ALBINISM-DEAFNESS SYNDROME HP:0008527 Congenital sensorineural hearing impairment IEA IEA OMIM:300700 HPO 17.02.2009
OMIM:300700 ALBINISM-DEAFNESS SYNDROME HP:0001107 Ocular albinism IEA IEA NOT NOT OMIM:300700 HPO:skoehler 18.06.2010
OMIM:300700 %300700 ALBINISM-DEAFNESS SYNDROME; ADFN;;ALDS HP:0001107 Ocular albinism IEA IEA NOT NOT OMIM-CS:EYES > NO OCULAR ALBINISM OMIM:300700 HPO:skoehler 30.05.2013
+OMIM:300700 %300700 ALBINISM-DEAFNESS SYNDROME; ADFN;;ALDS HP:0001022 Albinism IEA IEA Disease name contained:%300700 albinism-deafness syndrome; OMIM:300700 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300848.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300848.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300848.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -3,3 +3,4 @@
OMIM:300848 #300848 MENTAL RETARDATION, X-LINKED 89; MRX89 HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT OMIM:300848 HPO:skoehler Oct 14, 2012
OMIM:300848 #300848 MENTAL RETARDATION, X-LINKED 89; MRX89 HP:0000750 Delayed speech and language development IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > LANGUAGE DELAY OMIM:300848 HPO:skoehler Oct 14, 2012
OMIM:300848 #300848 MENTAL RETARDATION, X-LINKED 89; MRX89 HP:0002123 Generalized myoclonic seizures IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MYOCLONIC EPILEPSY (1 PATIENT) OMIM:300848 HPO:skoehler Oct 14, 2012
+OMIM:300848 #300848 MENTAL RETARDATION, X-LINKED 89; MRX89 HP:0001249 Intellectual disability IEA IEA Disease name contained:#300848 mental retardation, x-linked 89; mrx89 OMIM:300848 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300888.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300888.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300888.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -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:300888 #300888 HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT; CHTE HP:0001419 X-linked recessive inheritance IEA IEA OMIM-CS:INHERITANCE > X-LINKED RECESSIVE OMIM:300888 HPO:skoehler 21.01.2013
+OMIM:300888 #300888 HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT; CHTE HP:0000821 Hypothyroidism IEA IEA Disease name contained:#300888 hypothyroidism, central, and testi OMIM:300888 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-502500.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-502500.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-502500.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -4,3 +4,4 @@
OMIM:502500 ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL HP:0002185 Neurofibrillary tangles IEA IEA OMIM:502500 HPO:skoehler 20.06.2010
OMIM:502500 ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL HP:0002423 Long-tract signs IEA IEA OMIM:502500 HPO 17.02.2009
OMIM:502500 ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL HP:0003584 Late onset IEA IEA OMIM:502500 HPO 17.02.2009
+OMIM:502500 ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL HP:0002511 Alzheimer disease IEA IEA Disease name contained:alzheimer disease, susceptibility to, OMIM:502500 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600195.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600195.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600195.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -2,3 +2,4 @@
OMIM:600195 VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:600195 HPO 17.02.2009
OMIM:600195 VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL HP:0000153 Abnormality of the mouth IEA IEA OMIM:600195 HPO 17.02.2009
OMIM:600195 VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL HP:0002584 Intestinal bleeding IEA IEA OMIM:600195 HPO:skoehler 20.06.2010
+OMIM:600195 VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL HP:0012721 Venous malformation IEA IEA Disease name contained:venous malformations, multiple cutaneous OMIM:600195 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604379.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604379.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604379.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -7,3 +7,4 @@
OMIM:604379 #604379 HYPOTRICHOSIS 7; HYPT7;;HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 2; LAH2;;HYPOTRICHOSIS, AUTOSOMAL RECESSIVE; AH;;HYPOTRICHOSIS, TOTAL, MARI TYPEWOOLLY HAIR, AUTOSOMAL RECESSIVE 2, WITH OR WITHOUT HYPOTRICHOSIS,INCLUDED; ARWH2, INCLUDED;;WH/HT, INCLUDED HP:0000164 Abnormality of the teeth IEA IEA NOT NOT OMIM-CS:HEAD AND NECK_TEETH > NORMAL TEETH OMIM:604379 HPO:skoehler 26.11.2014
OMIM:604379 #604379 HYPOTRICHOSIS 7; HYPT7;;HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 2; LAH2;;HYPOTRICHOSIS, AUTOSOMAL RECESSIVE; AH;;HYPOTRICHOSIS, TOTAL, MARI TYPEWOOLLY HAIR, AUTOSOMAL RECESSIVE 2, WITH OR WITHOUT HYPOTRICHOSIS,INCLUDED; ARWH2, INCLUDED;;WH/HT, INCLUDED HP:0001597 Abnormality of the nail IEA IEA NOT NOT OMIM-CS:SKIN, NAILS, HAIR_NAILS > NORMAL NAILS OMIM:604379 HPO:skoehler 26.11.2014
OMIM:604379 #604379 HYPOTRICHOSIS 7; HYPT7;;HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 2; LAH2;;HYPOTRICHOSIS, AUTOSOMAL RECESSIVE; AH;;HYPOTRICHOSIS, TOTAL, MARI TYPEWOOLLY HAIR, AUTOSOMAL RECESSIVE 2, WITH OR WITHOUT HYPOTRICHOSIS,INCLUDED; ARWH2, INCLUDED;;WH/HT, INCLUDED HP:0000951 Abnormality of the skin IEA IEA NOT NOT OMIM-CS:SKIN, NAILS, HAIR_SKIN > NORMAL SKIN OMIM:604379 HPO:skoehler 27.11.2014
+OMIM:604379 #604379 HYPOTRICHOSIS 7; HYPT7;;HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 2; LAH2;;HYPOTRICHOSIS, AUTOSOMAL RECESSIVE; AH;;HYPOTRICHOSIS, TOTAL, MARI TYPEWOOLLY HAIR, AUTOSOMAL RECESSIVE 2, WITH OR WITHOUT HYPOTRICHOSIS,INCLUDED; ARWH2, INCLUDED;;WH/HT, INCLUDED HP:0001006 Hypotrichosis IEA IEA Disease name contained: recessive 2; lah2;;hypotrichosis OMIM:604379 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606159.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606159.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606159.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -25,3 +25,4 @@
OMIM:606159 BASAL GANGLIA DISEASE, ADULT-ONSET HP:0007007 Cavitation of the basal ganglia IEA IEA OMIM:606159 HPO 17.02.2009
OMIM:606159 #606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3; NBIA3;;NEUROFERRITINOPATHY;;BASAL GANGLIA DISEASE, ADULT-ONSET HP:0012049 Laryngeal dystonia IEA IEA OMIM-CS:RESPIRATORY_LARYNX > LARYNGEAL DYSTONIA OMIM:606159 HPO:skoehler 17.10.2012
OMIM:606159 #606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3; NBIA3;;NEUROFERRITINOPATHY;;BASAL GANGLIA DISEASE, ADULT-ONSET HP:0012343 Decreased serum ferritin IEA IEA OMIM-CS:LABORATORY ABNORMALITIES > DECREASED SERUM FERRITIN OMIM:606159 HPO:skoehler 17.09.2013
+OMIM:606159 #606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3; NBIA3;;NEUROFERRITINOPATHY;;BASAL GANGLIA DISEASE, ADULT-ONSET HP:0002180 Neurodegeneration IEA IEA Disease name contained:#606159 neurodegeneration with brain iron acc OMIM:606159 HPO:skoehler 27.01.2015
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608203.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608203.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608203.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -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:608203 NEUTROPHIL IMMUNODEFICIENCY SYNDROME HP:0002721 Immunodeficiency IEA IEA Disease name contained:neutrophil immunodeficiency syndrome OMIM:608203 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608354.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608354.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608354.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -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:608354 #608354 CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION;;CMAVMCAPILLARY MALFORMATION WITHOUT ARTERIOVENOUS MALFORMATION, INCLUDED RASA1 HP:0005306 Capillary hemangiomas IEA IEA pmid:14639529 HPO:probinson Jan 9, 2013
OMIM:608354 #608354 CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION;;CMAVMCAPILLARY MALFORMATION WITHOUT ARTERIOVENOUS MALFORMATION, INCLUDED RASA1 HP:0000006 Autosomal dominant inheritance IEA IEA pmid:14639529 HPO:probinson Mar 24, 2013
+OMIM:608354 #608354 CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION;;CMAVMCAPILLARY MALFORMATION WITHOUT ARTERIOVENOUS MALFORMATION, INCLUDED HP:0100026 Arteriovenous malformation IEA IEA Disease name contained:illary malformation-arteriovenous malformation;;cmavmcapillary mal OMIM:608354 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609404.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609404.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609404.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -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:609404 #609404 PREECLAMPSIA/ECLAMPSIA 4; PEE4 STOX1 HP:0100602 Preecplampsia PCS PCS pmid:17290274 HPO:probinson Jan 9, 2013
OMIM:609404 #609404 PREECLAMPSIA/ECLAMPSIA 4; PEE4 STOX1 HP:0010982 Polygenic inheritance PCS PCS pmid:17290274 HPO:probinson Mar 26, 2013
+OMIM:609404 #609404 PREECLAMPSIA/ECLAMPSIA 4; PEE4 HP:0100601 Eclampsia IEA IEA Disease name contained:609404 preeclampsia/eclampsia 4; pee4 OMIM:609404 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610247.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610247.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610247.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -2,3 +2,4 @@
OMIM:610247 %610247 ESOPHAGITIS, EOSINOPHILIC, 1; EOE1;;ESOPHAGITIS, EOSINOPHILIC; EE HP:0002015 Dysphagia IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > DYSPHAGIA OMIM:610247 HPO:skoehler 17.10.2012
OMIM:610247 %610247 ESOPHAGITIS, EOSINOPHILIC, 1; EOE1;;ESOPHAGITIS, EOSINOPHILIC; EE HP:0002013 Vomiting IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > VOMITING OMIM:610247 HPO:skoehler 17.10.2012
OMIM:610247 %610247 ESOPHAGITIS, EOSINOPHILIC, 1; EOE1;;ESOPHAGITIS, EOSINOPHILIC; EE HP:0001508 Failure to thrive IEA IEA OMIM-CS:GROWTH_OTHER > FAILURE TO THRIVE OMIM:610247 HPO:skoehler 17.10.2012
+OMIM:610247 %610247 ESOPHAGITIS, EOSINOPHILIC, 1; EOE1;;ESOPHAGITIS, EOSINOPHILIC; EE HP:0100633 Esophagitis IEA IEA Disease name contained:inophilic, 1; eoe1;;esophagitis, eosinophilic; ee OMIM:610247 HPO:skoehler 27.01.2015
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611863.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611863.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611863.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -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:611863 MICROTIA - EYE COLOBOMA - IMPERFORATION OF THE NASOLACRIMAL DUCT HP:0008551 Microtia IEA IEA Disease name contained:microtia - eye coloboma - im OMIM:611863 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612526.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612526.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612526.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -11,3 +11,4 @@
OMIM:612526 #612526 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3; CGL3;;BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 3; BSCL3;;LIPODYSTROPHY, BERARDINELLI-SEIP CONGENITAL, TYPE 3 HP:0003124 Hypercholesterolemia PCS PCS pmid:18211975 HPO:probinson Mar 12, 2013
OMIM:612526 #612526 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3; CGL3;;BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 3; BSCL3;;LIPODYSTROPHY, BERARDINELLI-SEIP CONGENITAL, TYPE 3 HP:0002901 Hypocalcemia PCS PCS pmid:18211975 HPO:probinson Mar 12, 2013
OMIM:612526 #612526 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3; CGL3;;BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 3; BSCL3;;LIPODYSTROPHY, BERARDINELLI-SEIP CONGENITAL, TYPE 3 HP:0004322 Short stature PCS PCS pmid:18211975 HPO:probinson Mar 12, 2013
+OMIM:612526 #612526 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3; CGL3;;BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 3; BSCL3;;LIPODYSTROPHY, BERARDINELLI-SEIP CONGENITAL, TYPE 3 HP:0009125 Lipodystrophy IEA IEA Disease name contained:#612526 lipodystrophy, congenital general OMIM:612526 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613385.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613385.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613385.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -15,3 +15,4 @@
OMIM:613385 #613385 AUTOIMMUNE DISEASE, SYNDROMIC MULTISYSTEM HP:0012385 Camptodactyly IEA IEA OMIM-CS:SKELETAL_HANDS > CAMPTODACTYLY OMIM:613385 HPO:skoehler 22.10.2013
OMIM:613385 #613385 AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD HP:0030084 Clinodactyly IEA IEA OMIM-CS:SKELETAL_HANDS > CLINODACTYLY OMIM:613385 HPO:skoehler 21.09.2014
OMIM:613385 #613385 AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD HP:0001999 Abnormal facial shape IEA IEA Disease name contained:tem, with facial dysmorphism; admfd OMIM:613385 HPO:skoehler 19.01.2015
+OMIM:613385 #613385 AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD HP:0002960 Autoimmunity IEA IEA Disease name contained:#613385 autoimmune disease, multisystem, with OMIM:613385 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613496.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613496.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613496.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -6,3 +6,4 @@
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
+OMIM:613496 #613496 IMMUNODEFICIENCY, COMMON VARIABLE, 6; CVID6;;ANTIBODY DEFICIENCY DUE TO CD81 DEFECT HP:0002721 Immunodeficiency IEA IEA Disease name contained:#613496 immunodeficiency, common variable, 6 OMIM:613496 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613668.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613668.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613668.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -12,3 +12,4 @@
OMIM:613668 #613668 MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY HP:0001257 Spasticity IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SPASTICITY OMIM:613668 HPO:skoehler 17.10.2012
OMIM:613668 #613668 MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY HP:0002506 Diffuse cerebral atrophy IEA IEA MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBRAL ATROPHY, DIFFUSE, SEVERE OMIM:613668 HPO:skoehler 06.06.2013
OMIM:613668 #613668 MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY HP:0001263 Global developmental delay IEA IEA MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DEVELOPMENTAL RETARDATION, SEVERE OMIM:613668 HPO:skoehler 06.06.2013
+OMIM:613668 #613668 MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY HP:0005484 Postnatal microcephaly IEA IEA Disease name contained:#613668 microcephaly, postnatal progressive, with s OMIM:613668 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614103.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614103.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614103.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -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:614103 %614103 LIPEDEMA HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT OMIM:614103 HPO:skoehler 17.10.2012
+OMIM:614103 %614103 LIPEDEMA HP:0100695 Lipedema IEA IEA Disease name contained:%614103 lipedema OMIM:614103 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614135.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614135.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614135.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -8,3 +8,4 @@
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
+OMIM:614135 #614135 EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6 HP:0002656 Epiphyseal dysplasia IEA IEA Disease name contained:#614135 epiphyseal dysplasia, multiple, 6; edm6 OMIM:614135 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614482.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614482.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614482.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -13,3 +13,4 @@
OMIM:614482 #614482 CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION; CCHLND HP:0000518 Cataract HP:0003577 Congenital onset IEA IEA OMIM-CS:HEAD AND NECK_EYES > CATARACTS, CONGENITAL OMIM:614482 HPO:skoehler 06.06.2013
OMIM:614482 #614482 CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION; CCHLND HP:0001252 Muscular hypotonia IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > HYPOTONIA OMIM:614482 HPO:skoehler 26.11.2014
OMIM:614482 #614482 CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION; CCHLND HP:0001344 Absent speech IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > LACK OF SPEECH OMIM:614482 HPO:skoehler 26.11.2014
+OMIM:614482 #614482 CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION; CCHLND HP:0000519 Congenital cataract IEA IEA Disease name contained:#614482 congenital cataracts, hearing loss, and OMIM:614482 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614487.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614487.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614487.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -20,3 +20,4 @@
OMIM:614487 #614487 SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE; SPAX5 HP:0001324 Muscle weakness IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > DISTAL MUSCLE WEAKNESS, AFFECTING THE LOWER LIMBS OMIM:614487 HPO:skoehler Jan 22, 2013
OMIM:614487 #614487 SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE; SPAX5 HP:0007141 Sensorimotor neuropathy IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > AXONAL PERIPHERAL SENSORIMOTOR NEUROPATHY OMIM:614487 HPO:skoehler Jan 22, 2013
OMIM:614487 #614487 SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE; SPAX5 HP:0012240 Increased intramyocellular lipid droplets TAS TAS OMIM:614487 HPO:probinson Apr 1, 2013
+OMIM:614487 #614487 SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE; SPAX5 HP:0002497 Spastic ataxia IEA IEA Disease name contained:#614487 spastic ataxia 5, autosomal recess OMIM:614487 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614514.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614514.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614514.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -6,3 +6,4 @@
OMIM:614514 #614514 THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE; THPH6 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:614514 HPO:skoehler Oct 17, 2012
OMIM:614514 #614514 THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE; THPH6 HP:0005521 Disseminated intravascular coagulation IEA IEA OMIM-CS:LABORATORY ABNORMALITIES > DISSEMINATED INTRAVASCULAR COAGULATION OMIM:614514 HPO:skoehler Oct 17, 2012
OMIM:614514 #614514 THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE; THPH6 HP:0002204 Pulmonary embolism IEA IEA OMIM-CS:RESPIRATORY_LUNG > PULMONARY EMBOLISM OMIM:614514 HPO:skoehler Oct 17, 2012
+OMIM:614514 #614514 THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE; THPH6 HP:0100724 Hypercoagulability IEA IEA Disease name contained:#614514 thrombophilia due to protein s de OMIM:614514 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614521.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614521.tab 2015-01-27 20:21:52 UTC (rev 5282)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614521.tab 2015-01-27 20:36:32 UTC (rev 5283)
@@ -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:614521 #614521 THROMBOCYTHE...
[truncated message content] |
|
From: <koe...@us...> - 2015-01-27 20:21:59
|
Revision: 5282
http://sourceforge.net/p/obo/svn/5282
Author: koehlers
Date: 2015-01-27 20:21:52 +0000 (Tue, 27 Jan 2015)
Log Message:
-----------
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-221995.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608710.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613024.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-221995.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-221995.tab 2015-01-27 20:13:02 UTC (rev 5281)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-221995.tab 2015-01-27 20:21:52 UTC (rev 5282)
@@ -1 +1,2 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
OMIM:221995 NEPHROGENIC DIABETES INSIPIDUS - INTRACRANIAL CALCIFICATION HP:0009806 Nephrogenic diabetes insipidus IEA IEA Disease name contained:nephrogenic diabetes insipidus - intracranial calc OMIM:221995 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608710.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608710.tab 2015-01-27 20:13:02 UTC (rev 5281)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608710.tab 2015-01-27 20:21:52 UTC (rev 5282)
@@ -1 +1,2 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
OMIM:608710 GRANULOMATOSIS WITH POLYANGIITIS HP:0002955 Granulomatosis IEA IEA Disease name contained:granulomatosis with polyangiitis OMIM:608710 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613024.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613024.tab 2015-01-27 20:13:02 UTC (rev 5281)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613024.tab 2015-01-27 20:21:52 UTC (rev 5282)
@@ -1 +1,2 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
OMIM:613024 FOLLICULAR LYMPHOMA HP:0002665 Lymphoma IEA IEA Disease name contained:follicular lymphoma OMIM:613024 HPO:skoehler 27.01.2015
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <koe...@us...> - 2015-01-27 20:13:05
|
Revision: 5281
http://sourceforge.net/p/obo/svn/5281
Author: koehlers
Date: 2015-01-27 20:13:02 +0000 (Tue, 27 Jan 2015)
Log Message:
-----------
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-103300.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-131450.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-133239.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-133600.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-148370.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-148800.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-156900.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-161400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-182990.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184250.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184252.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-193230.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-194000.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-209880.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-226900.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-235900.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-240500.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-251945.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-275900.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300584.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-301590.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-308200.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600383.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601493.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602114.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604229.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604387.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606703.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607131.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607634.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610455.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612783.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613206.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613229.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613424.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613558.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613623.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614069.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614165.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614369.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614388.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614614.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614830.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615156.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615182.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615513.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615745.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616050.tab
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-221995.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608710.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613024.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-103300.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-103300.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-103300.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -8,3 +8,4 @@
OMIM:103300 AGLOSSIA-ADACTYLIA HP:0009776 Adactyly TAS TAS OMIM:103300 HPO:skoehler Feb 17, 2009
OMIM:103300 AGLOSSIA-ADACTYLIA HP:0000347 Micrognathia TAS TAS OMIM:103300 HPO:skoehler Oct 11, 2012
OMIM:103300 AGLOSSIA-ADACTYLIA HP:0000171 Microglossia TAS TAS OMIM:103300 HPO:skoehler Oct 11, 2012
+OMIM:103300 AGLOSSIA-ADACTYLIA HP:0012730 Aglossia IEA IEA Disease name contained:aglossia-adactylia OMIM:103300 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-131450.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-131450.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-131450.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -2,3 +2,4 @@
OMIM:131450 EPIBLEPHARON OF LOWER LID HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:131450 HPO 17.02.2009
OMIM:131450 EPIBLEPHARON OF LOWER LID HP:0011225 Epiblepharon TAS TAS Disease name contained:epiblepharon of lower lid OMIM:131450 HPO:skoehler 21.01.2015
+OMIM:131450 EPIBLEPHARON OF LOWER LID HP:0040151 Epiblepharon of lower lid IEA IEA Disease name contained:epiblepharon of lower lid OMIM:131450 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-133239.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-133239.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-133239.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -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:133239 ESOPHAGEAL CANCERESOPHAGEAL SQUAMOUS CELL CARCINOMA, INCLUDED HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:133239 HPO 17.02.2009
OMIM:133239 ESOPHAGEAL CANCERESOPHAGEAL SQUAMOUS CELL CARCINOMA, INCLUDED HP:0002664 Neoplasm IEA IEA OMIM:133239 HPO 17.02.2009
+OMIM:133239 ESOPHAGEAL CANCERESOPHAGEAL SQUAMOUS CELL CARCINOMA, INCLUDED HP:0002860 Squamous cell carcinoma IEA IEA Disease name contained:al canceresophageal squamous cell carcinoma, included OMIM:133239 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-133600.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-133600.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-133600.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -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:133600 EXOSTOSES OF HEEL HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:133600 HPO 17.02.2009
OMIM:133600 EXOSTOSES OF HEEL HP:0000924 Abnormality of the musculoskeletal system IEA IEA OMIM:133600 HPO 17.02.2009
+OMIM:133600 EXOSTOSES OF HEEL HP:0100777 Exostoses IEA IEA Disease name contained:exostoses of heel OMIM:133600 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-148370.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-148370.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-148370.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -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:148370 KERATOLYTIC WINTER ERYTHEMA HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:148370 HPO 17.02.2009
OMIM:148370 KERATOLYTIC WINTER ERYTHEMA HP:0000951 Abnormality of the skin IEA IEA OMIM:148370 HPO 17.02.2009
+OMIM:148370 KERATOLYTIC WINTER ERYTHEMA HP:0010783 Erythema IEA IEA Disease name contained:keratolytic winter erythema OMIM:148370 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-148800.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-148800.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-148800.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -6,3 +6,4 @@
OMIM:148800 KLEEBLATTSCHAEDEL SYNDROME HP:0001363 Craniosynostosis IEA IEA OMIM:148800 HPO 17.02.2009
OMIM:148800 KLEEBLATTSCHAEDEL SYNDROME HP:0003070 Elbow ankylosis IEA IEA OMIM:148800 HPO 17.02.2009
OMIM:148800 KLEEBLATTSCHAEDEL SYNDROME HP:0003769 All cases sporadic IEA IEA OMIM:148800 HPO 17.02.2009
+OMIM:148800 KLEEBLATTSCHAEDEL SYNDROME HP:0002676 Cloverleaf skull IEA IEA Disease name contained:kleeblattschaedel syndrome OMIM:148800 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-156900.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-156900.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-156900.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -2,3 +2,4 @@
OMIM:156900 MICROPHTHALMIA, ISOLATED, WITH CORECTOPIA HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:156900 HPO 17.02.2009
OMIM:156900 MICROPHTHALMIA, ISOLATED, WITH CORECTOPIA HP:0000545 Myopia IEA IEA OMIM:156900 HPO 17.02.2009
OMIM:156900 MICROPHTHALMIA, ISOLATED, WITH CORECTOPIA HP:0000568 Microphthalmos IEA IEA OMIM:156900 HPO 17.02.2009
+OMIM:156900 MICROPHTHALMIA, ISOLATED, WITH CORECTOPIA HP:0009918 Ectopia pupillae IEA IEA Disease name contained:mia, isolated, with corectopia OMIM:156900 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-161400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-161400.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-161400.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -8,3 +8,4 @@
MIM:161400 NARCOLEPSY 1 HCRT, NCRNA00163 HP:0006896 Hypnopompic hallucinations IEA IEA 17.02.2009
MIM:161400 NARCOLEPSY 1 HCRT, NCRNA00163 HP:0002524 Cataplexy TAS TAS MIM:161400 HPO:probinson 11.04.2012
OMIM:161400 #161400 NARCOLEPSY 1; NRCLP1;;NARCOLEPTIC SYNDROME 1CATAPLEXY, INCLUDED HP:0001425 Heterogeneous IEA IEA OMIM-CS:MISCELLANEOUS > GENETIC HETEROGENEITY OMIM:161400 HPO:skoehler 17.10.2012
+OMIM:161400 #161400 NARCOLEPSY 1; NRCLP1;;NARCOLEPTIC SYNDROME 1CATAPLEXY, INCLUDED HP:0030050 Narcolepsy IEA IEA Disease name contained:#161400 narcolepsy 1; nrclp1;;narcolep OMIM:161400 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-182990.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-182990.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-182990.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -2,3 +2,4 @@
OMIM:182990 SPINAL INTRADURAL ARACHNOID CYSTS HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:182990 HPO 17.02.2009
OMIM:182990 SPINAL INTRADURAL ARACHNOID CYSTS HP:0000925 Abnormality of the vertebral column IEA IEA OMIM:182990 HPO 17.02.2009
OMIM:182990 SPINAL INTRADURAL ARACHNOID CYSTS HP:0010550 Paraplegia IEA IEA OMIM:182990 HPO:skoehler 20.06.2010
+OMIM:182990 SPINAL INTRADURAL ARACHNOID CYSTS HP:0100702 Arachnoid cyst IEA IEA Disease name contained:spinal intradural arachnoid cysts OMIM:182990 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184250.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184250.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184250.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -23,3 +23,4 @@
OMIM:184250 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE HP:0011860 Metaphyseal dappling TAS TAS OMIM:184250 HPO:probinson 26.05.2012
OMIM:184250 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE HP:0000907 Anterior rib cupping TAS TAS OMIM:184250 HPO:probinson 10.06.2012
OMIM:184250 #184250 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE; SEMDSTWK;;SEMD, STRUDWICK TYPE;;SPONDYLOMETAEPIPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE;;SMED, STRUDWICK TYPE;;SMED, TYPE I;;STRUDWICK SYNDROME;;DAPPLED METAPHYSIS SYNDROME;;SPONDYLOMETAPHYSEAL DYSPLASIA; SMD;;SEMDC HP:0001249 Intellectual disability IEA IEA NOT NOT OMIM-CS:NEUROLOGIC > NORMAL INTELLIGENCE OMIM:184250 HPO:skoehler 26.11.2014
+OMIM:184250 #184250 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE; SEMDSTWK;;SEMD, STRUDWICK TYPE;;SPONDYLOMETAEPIPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE;;SMED, STRUDWICK TYPE;;SMED, TYPE I;;STRUDWICK SYNDROME;;DAPPLED METAPHYSIS SYNDROME;;SPONDYLOMETAPHYSEAL DYSPLASIA; SMD;;SEMDC HP:0002651 Spondyloepimetaphyseal dysplasia IEA IEA Disease name contained:#184250 spondyloepimetaphyseal dysplasia, strudwick type; se OMIM:184250 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184252.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184252.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184252.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -18,3 +18,4 @@
OMIM:184252 SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE HP:0003180 Flat acetabular roofs TAS TAS OMIM:184252 HPO:probinson 26.05.2012
OMIM:184252 SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE HP:0008833 Irregular acetabular roof TAS TAS OMIM:184252 HPO:probinson 26.05.2012
OMIM:184252 #184252 SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE; SMDK;;SMD, KOZLOWSKI TYPE HP:0003015 Flared metaphyses IEA IEA OMIM-CS:SKELETAL_LIMBS > METAPHYSEAL FLARING OMIM:184252 HPO:skoehler 17.10.2012
+OMIM:184252 #184252 SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE; SMDK;;SMD, KOZLOWSKI TYPE HP:0002657 Spondylometaphyseal dysplasia IEA IEA Disease name contained:#184252 spondylometaphyseal dysplasia, kozlowski type; sm OMIM:184252 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-193230.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-193230.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-193230.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -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:193230 VITREORETINAL DEGENERATION, SNOWFLAKE TYPE HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:193230 HPO 17.02.2009
OMIM:193230 VITREORETINAL DEGENERATION, SNOWFLAKE TYPE HP:0000518 Cataract IEA IEA OMIM:193230 HPO 17.02.2009
+OMIM:193230 VITREORETINAL DEGENERATION, SNOWFLAKE TYPE HP:0000655 Vitreoretinal degeneration IEA IEA Disease name contained:vitreoretinal degeneration, snowflake type OMIM:193230 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-194000.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-194000.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-194000.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -2,3 +2,4 @@
OMIM:194000 WIDOW'S PEAK HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:194000 HPO 17.02.2009
OMIM:194000 WIDOW'S PEAK HP:0000316 Hypertelorism IEA IEA OMIM:194000 HPO 17.02.2009
OMIM:194000 WIDOW'S PEAK HP:0004544 Pointed frontal hairline IEA IEA OMIM:194000 HPO 17.02.2009
+OMIM:194000 WIDOW'S PEAK HP:0000349 Widow's peak IEA IEA Disease name contained:widow's peak OMIM:194000 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-209880.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-209880.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-209880.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -15,3 +15,4 @@
OMIM:209880 #209880 CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS;;AUTONOMIC CONTROL, CONGENITAL FAILURE OF ONDINE CURSE, CONGENITALONDINE-HIRSCHSPRUNG DISEASE, INCLUDED; OHD, INCLUDED;;CCHS WITH HIRSCHSPRUNG DISEASE, INCLUDED;;HADDAD SYNDROME, INCLUDED HP:0003006 Neuroblastoma IEA IEA OMIM-CS:NEOPLASIA > NEUROBLASTOMA OMIM:209880 HPO:skoehler 17.10.2012
OMIM:209880 #209880 CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS;;AUTONOMIC CONTROL, CONGENITAL FAILURE OF ONDINE CURSE, CONGENITALONDINE-HIRSCHSPRUNG DISEASE, INCLUDED; OHD, INCLUDED;;CCHS WITH HIRSCHSPRUNG DISEASE, INCLUDED;;HADDAD SYNDROME, INCLUDED HP:0002791 Hypoventilation IEA IEA OMIM-CS:RESPIRATORY > ALVEOLAR HYPOVENTILATION OMIM:209880 HPO:skoehler 17.10.2012
OMIM:209880 #209880 CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS;;AUTONOMIC CONTROL, CONGENITAL FAILURE OF ONDINE CURSE, CONGENITALONDINE-HIRSCHSPRUNG DISEASE, INCLUDED; OHD, INCLUDED;;CCHS WITH HIRSCHSPRUNG DISEASE, INCLUDED;;HADDAD SYNDROME, INCLUDED HP:0001064 Diaphoresis IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > INCREASED SWEATING OMIM:209880 HPO:skoehler 17.10.2012
+OMIM:209880 #209880 CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS;;AUTONOMIC CONTROL, CONGENITAL FAILURE OF ONDINE CURSE, CONGENITALONDINE-HIRSCHSPRUNG DISEASE, INCLUDED; OHD, INCLUDED;;CCHS WITH HIRSCHSPRUNG DISEASE, INCLUDED;;HADDAD SYNDROME, INCLUDED HP:0007110 Central hypoventilation IEA IEA Disease name contained:#209880 central hypoventilation syndrome, congenita OMIM:209880 HPO:skoehler 27.01.2015
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-221995.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-221995.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-221995.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -0,0 +1 @@
+OMIM:221995 NEPHROGENIC DIABETES INSIPIDUS - INTRACRANIAL CALCIFICATION HP:0009806 Nephrogenic diabetes insipidus IEA IEA Disease name contained:nephrogenic diabetes insipidus - intracranial calc OMIM:221995 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-226900.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-226900.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-226900.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -11,3 +11,4 @@
OMIM:226900 EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 HP:0006376 Limited elbow flexion IEA IEA OMIM:226900 HPO Feb 17, 2009
OMIM:226900 EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 HP:0008802 Hypoplasia of the femoral head IEA IEA OMIM:226900 HPO Feb 17, 2009
OMIM:226900 EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 HP:0010049 Short metacarpal IEA IEA OMIM:226900 HPO Feb 17, 2009
+OMIM:226900 EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 HP:0002656 Epiphyseal dysplasia IEA IEA Disease name contained:epiphyseal dysplasia, multiple, 4 OMIM:226900 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-235900.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-235900.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-235900.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -5,3 +5,4 @@
OMIM:235900 HISTIOCYTOSIS, FAMILIAL LIPOCHROME HP:0002964 Susceptibility to infection TAS TAS OMIM:235900 HPO:probinson 17.02.2009
OMIM:235900 HISTIOCYTOSIS, FAMILIAL LIPOCHROME HP:0005413 Increased alpha-globulin TAS TAS OMIM:235900 HPO:probinson 17.02.2009
OMIM:235900 HISTIOCYTOSIS, FAMILIAL LIPOCHROME HP:0010702 Hypergammaglobulinemia TAS TAS OMIM:235900 HPO:probinson 18.07.2012
+OMIM:235900 HISTIOCYTOSIS, FAMILIAL LIPOCHROME HP:0100727 Histiocytosis IEA IEA Disease name contained:histiocytosis, familial lipochrom OMIM:235900 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-240500.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-240500.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-240500.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -21,3 +21,4 @@
OMIM:240500 COMMON VARIABLE IMMUNODEFICIENCY HP:0002240 Hepatomegaly TAS TAS OMIM:240500 HPO:probinson 06.05.2012
OMIM:240500 COMMON VARIABLE IMMUNODEFICIENCY HP:0002960 Autoimmunity TAS TAS OMIM:240500 HPO:probinson 06.05.2012
OMIM:240500 #240500 IMMUNODEFICIENCY, COMMON VARIABLE, 2; CVID2;;ANTIBODY DEFICIENCY DUE TO TACI DEFECT;;HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY HP:0011839 Abnormality of T cell number IEA IEA NOT NOT OMIM-CS:IMMUNOLOGY > NORMAL NUMBERS OF T CELLS OMIM:240500 HPO:skoehler 27.11.2014
+OMIM:240500 #240500 IMMUNODEFICIENCY, COMMON VARIABLE, 2; CVID2;;ANTIBODY DEFICIENCY DUE TO TACI DEFECT;;HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY HP:0002721 Immunodeficiency IEA IEA Disease name contained:#240500 immunodeficiency, common variable, 2 OMIM:240500 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-251945.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-251945.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-251945.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -3,3 +3,4 @@
OMIM:251945 MITOCHONDRIAL MYOPATHY WITH A DEFECT IN MITOCHONDRIAL-PROTEIN TRANSPORT HP:0001324 Muscle weakness IEA IEA OMIM:251945 HPO 17.02.2009
OMIM:251945 MITOCHONDRIAL MYOPATHY WITH A DEFECT IN MITOCHONDRIAL-PROTEIN TRANSPORT HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:251945 HPO 17.02.2009
OMIM:251945 MITOCHONDRIAL MYOPATHY WITH A DEFECT IN MITOCHONDRIAL-PROTEIN TRANSPORT HP:0003546 Exercise intolerance IEA IEA OMIM:251945 HPO 17.02.2009
+OMIM:251945 MITOCHONDRIAL MYOPATHY WITH A DEFECT IN MITOCHONDRIAL-PROTEIN TRANSPORT HP:0003737 Mitochondrial myopathy IEA IEA Disease name contained:mitochondrial myopathy with a defect in mi OMIM:251945 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-275900.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-275900.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-275900.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -33,3 +33,4 @@
OMIM:275900 #275900 SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20;;TROYER SYNDROME;;SPASTIC PARAPARESIS, CHILDHOOD-ONSET, WITH DISTAL MUSCLE WASTING;;SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, TROYER TYPE HP:0012385 Camptodactyly IEA IEA OMIM-CS:SKELETAL_HANDS > CAMPTODACTYLY OMIM:275900 HPO:skoehler 22.10.2013
OMIM:275900 #275900 SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20;;TROYER SYNDROME;;SPASTIC PARAPARESIS, CHILDHOOD-ONSET, WITH DISTAL MUSCLE WASTING;;SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, TROYER TYPE HP:0030084 Clinodactyly IEA IEA OMIM-CS:SKELETAL_HANDS > CLINODACTYLY OMIM:275900 HPO:skoehler 21.09.2014
OMIM:275900 #275900 SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20;;TROYER SYNDROME;;SPASTIC PARAPARESIS, CHILDHOOD-ONSET, WITH DISTAL MUSCLE WASTING;;SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, TROYER TYPE HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY OMIM:275900 HPO:skoehler 26.11.2014
+OMIM:275900 #275900 SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20;;TROYER SYNDROME;;SPASTIC PARAPARESIS, CHILDHOOD-ONSET, WITH DISTAL MUSCLE WASTING;;SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, TROYER TYPE HP:0002313 Spastic paraparesis IEA IEA Disease name contained:0;;troyer syndrome;;spastic paraparesis, chi OMIM:275900 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300584.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300584.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300584.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -7,3 +7,4 @@
OMIM:300584 #300584 IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA;;IMMUNODEFICIENCY, ISOLATED;;IMMUNODEFICIENCY, PURE IKBKG HP:0002847 Impaired memory B-cell generation PCS PCS pmid:16532398 HPO:probinson Feb 17, 2013
OMIM:300584 #300584 IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA;;IMMUNODEFICIENCY, ISOLATED;;IMMUNODEFICIENCY, PURE IKBKG HP:0007476 Anhidrotic ectodermal dysplasia PCS PCS NOT NOT HPO:skoehler Jan 14, 2015
+OMIM:300584 #300584 IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA;;IMMUNODEFICIENCY, ISOLATED;;IMMUNODEFICIENCY, PURE HP:0002721 Immunodeficiency IEA IEA Disease name contained:todermal dysplasia;;immunodeficiency, isolated;;immuno OMIM:300584 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-301590.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-301590.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-301590.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -5,3 +5,4 @@
OMIM:301590 MICROPHTHALMIA, SYNDROMIC 4 HP:0001249 Intellectual disability IEA IEA OMIM:301590 HPO 17.02.2009
OMIM:301590 MICROPHTHALMIA, SYNDROMIC 4 HP:0001417 X-linked inheritance IEA IEA OMIM:301590 HPO 17.02.2009
OMIM:301590 MICROPHTHALMIA, SYNDROMIC 4 HP:0009755 Ankyloblepharon IEA IEA OMIM:301590 HPO:skoehler 18.06.2010
+OMIM:301590 MICROPHTHALMIA, SYNDROMIC 4 HP:0000568 Microphthalmos IEA IEA Disease name contained:microphthalmia, syndromic 4 OMIM:301590 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-308200.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-308200.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-308200.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -9,3 +9,4 @@
OMIM:308200 ICHTHYOSIS AND MALE HYPOGONADISM;;RUD SYNDROME, INCLUDED HP:0004857 Hyperchromic macrocytic anemia IEA IEA OMIM:308200 HPO 17.02.2009
OMIM:308200 ICHTHYOSIS AND MALE HYPOGONADISM;;RUD SYNDROME, INCLUDED HP:0007431 Congenital ichthyosiform erythroderma IEA IEA OMIM:308200 HPO 17.02.2009
OMIM:308200 ICHTHYOSIS AND MALE HYPOGONADISM;;RUD SYNDROME, INCLUDED HP:0008192 Gonadotropin deficiency TAS TAS OMIM:308200 HPO:probinson 17.02.2009
+OMIM:308200 ICHTHYOSIS AND MALE HYPOGONADISM;;RUD SYNDROME, INCLUDED HP:0000026 Male hypogonadism IEA IEA Disease name contained:ichthyosis and male hypogonadism;;rud syndrome, incl OMIM:308200 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600383.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600383.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600383.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -17,3 +17,4 @@
OMIM:600383 #600383 MESOMELIA-SYNOSTOSES SYNDROME;;CHROMOSOME 8q13 DELETION SYNDROME;;MESOMELIC DYSPLASIA WITH ACRAL SYNOSTOSES, VERLOES-DAVID-PFEIFFERTYPE;;MESOMELIC DYSPLASIA, SYNDROMIC HP:0001764 Small feet IEA IEA OMIM-CS:SKELETAL_FEET > SHORT FEET OMIM:600383 HPO:skoehler 17.10.2012
OMIM:600383 #600383 MESOMELIA-SYNOSTOSES SYNDROME;;CHROMOSOME 8q13 DELETION SYNDROME;;MESOMELIC DYSPLASIA WITH ACRAL SYNOSTOSES, VERLOES-DAVID-PFEIFFERTYPE;;MESOMELIC DYSPLASIA, SYNDROMIC HP:0001193 Ulnar deviation of the hand or of fingers of the hand IEA IEA OMIM-CS:SKELETAL_HANDS > ULNAR DEVIATION OF HANDS OMIM:600383 HPO:skoehler 17.10.2012
OMIM:600383 #600383 MESOMELIA-SYNOSTOSES SYNDROME;;CHROMOSOME 8q13 DELETION SYNDROME;;MESOMELIC DYSPLASIA WITH ACRAL SYNOSTOSES, VERLOES-DAVID-PFEIFFERTYPE;;MESOMELIC DYSPLASIA, SYNDROMIC HP:0005753 Limb shortening IEA IEA OMIM-CS:SKELETAL_LIMBS > SHORT LIMBS OMIM:600383 HPO:skoehler 17.10.2012
+OMIM:600383 #600383 MESOMELIA-SYNOSTOSES SYNDROME;;CHROMOSOME 8Q13 DELETION SYNDROME;;MESOMELIC DYSPLASIA WITH ACRAL SYNOSTOSES, VERLOES-DAVID-PFEIFFERTYPE;;MESOMELIC DYSPLASIA, SYNDROMIC HP:0003027 Mesomelia IEA IEA Disease name contained:#600383 mesomelia-synostoses syndrome OMIM:600383 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601493.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601493.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601493.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -4,3 +4,4 @@
OMIM:601493 CARDIOMYOPATHY, DILATED, 1C; CMD1C HP:0001645 Sudden cardiac death IEA IEA rare OMIM:601493 HPO:skoehler 20.06.2010
OMIM:601493 CARDIOMYOPATHY, DILATED, 1C; CMD1C HP:0001712 Left ventricular hypertrophy IEA IEA rare OMIM:601493 HPO:skoehler 20.06.2010
OMIM:601493 CARDIOMYOPATHY, DILATED, 1C; CMD1C HP:0004308 Ventricular arrhythmia IEA IEA rare OMIM:601493 HPO:skoehler 20.06.2010
+OMIM:601493 CARDIOMYOPATHY, DILATED, 1C; CMD1C HP:0001644 Dilated cardiomyopathy IEA IEA Disease name contained:cardiomyopathy, dilated, 1c; cmd1c OMIM:601493 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602114.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602114.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602114.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -4,3 +4,4 @@
OMIM:602114 NEPHROPATHY, PROGRESSIVE TUBULOINTERSTITIAL, WITH CHOLESTATIC LIVERDISEASE HP:0002910 Elevated hepatic transaminases IEA IEA OMIM:602114 HPO Feb 17, 2009
OMIM:602114 NEPHROPATHY, PROGRESSIVE TUBULOINTERSTITIAL, WITH CHOLESTATIC LIVERDISEASE HP:0008654 Tubulointerstitial nephropathy IEA IEA OMIM:602114 HPO Feb 17, 2009
OMIM:602114 NEPHROPATHY, PROGRESSIVE TUBULOINTERSTITIAL, WITH CHOLESTATIC LIVERDISEASE HP:0012622 Chronic kidney disease TAS TAS OMIM:602114 HPO:probinson Jan 18, 2014
+OMIM:602114 NEPHROPATHY, PROGRESSIVE TUBULOINTERSTITIAL, WITH CHOLESTATIC LIVERDISEASE HP:0000112 Nephropathy IEA IEA Disease name contained:nephropathy, progressive tubulo OMIM:602114 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604229.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604229.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604229.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -4,3 +4,4 @@
OMIM:604229 PETERS ANOMALY HP:0000639 Nystagmus PCS PCS 32% PMID:14711722 HPO:curators 19.04.2012
OMIM:604229 PETERS ANOMALY HP:0001087 Congenital glaucoma PCS PCS common PMID:11403040;PMID:14711722 HPO:curators 19.04.2012
OMIM:604229 PETERS ANOMALY HP:0007957 Reduction of corneal clarity PCS PCS hallmark PMID:8162071;PMID:10051017 HPO:curators 19.04.2012
+OMIM:604229 PETERS ANOMALY HP:0000659 Peters anomaly IEA IEA Disease name contained:peters anomaly OMIM:604229 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604387.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604387.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604387.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -12,3 +12,4 @@
OMIM:604387 NEPHRONOPHTHISIS 3 HP:0000790 Hematuria IEA IEA NOT NOT OMIM:604387 HPO:skoehler Jun 18, 2010
OMIM:604387 #604387 NEPHRONOPHTHISIS 3; NPHP3;;NPH3 HP:0000790 Hematuria IEA IEA NOT NOT OMIM-CS:LABORATORY ABNORMALITIES > NO HEMATURIA OMIM:604387 HPO:skoehler 30.05.2013
OMIM:604387 #604387 NEPHRONOPHTHISIS 3; NPHP3;;NPH3 HP:0000093 Proteinuria IEA IEA NOT NOT OMIM-CS:LABORATORY ABNORMALITIES > NO PROTEINURIA OMIM:604387 HPO:skoehler 30.05.2013
+OMIM:604387 #604387 NEPHRONOPHTHISIS 3; NPHP3;;NPH3 HP:0000090 Nephronophthisis IEA IEA Disease name contained:#604387 nephronophthisis 3; nphp3;;nph3 OMIM:604387 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606703.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606703.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606703.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -13,3 +13,4 @@
OMIM:606703 #606703 DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA; FDFM HP:0001347 Hyperreflexia IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPERREFLEXIA (IN SOME PATIENTS) OMIM:606703 HPO:skoehler 04.05.2014
OMIM:606703 #606703 DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA; FDFM HP:0002509 Limb hypertonia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > LIMB HYPERTONIA OMIM:606703 HPO:skoehler 04.05.2014
OMIM:606703 #606703 DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA; FDFM HP:0002322 Resting tremor IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > RESTING TREMOR (IN SOME PATIENTS) OMIM:606703 HPO:skoehler 04.05.2014
+OMIM:606703 #606703 DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA; FDFM HP:0100660 Dyskinesia IEA IEA Disease name contained:#606703 dyskinesia, familial, with fac OMIM:606703 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607131.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607131.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607131.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -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:607131 MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE HP:0001999 Abnormal facial shape IEA IEA Disease name contained:cephaly - distinctive facies|http://ww OMIM:607131 HPO:skoehler 19.01.2015
+OMIM:607131 MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE HP:0002654 Multiple epiphyseal dysplasia IEA IEA Disease name contained:multiple epiphyseal dysplasia, al-gazali type OMIM:607131 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607634.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607634.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607634.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -8,3 +8,4 @@
OMIM:607634 OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 HP:0005789 Generalized osteosclerosis IEA IEA OMIM:607634 HPO Feb 17, 2009
OMIM:607634 OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 HP:0002757 Recurrent fractures IEA IEA NOT NOT OMIM:607634 HPO:skoehler Jun 18, 2010
OMIM:607634 OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 HP:0003148 Elevated serum acid phosphatase TAS TAS NOT NOT OMIM:607634 HPO:probinson Dec 15, 2013
+OMIM:607634 OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 HP:0011002 Osteopetrosis IEA IEA Disease name contained:osteopetrosis, autosomal dominant OMIM:607634 HPO:skoehler 27.01.2015
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608710.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608710.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608710.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -0,0 +1 @@
+OMIM:608710 GRANULOMATOSIS WITH POLYANGIITIS HP:0002955 Granulomatosis IEA IEA Disease name contained:granulomatosis with polyangiitis OMIM:608710 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610455.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610455.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610455.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -4,3 +4,4 @@
OMIM:610455 TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL HP:0000509 Conjunctivitis IEA IEA OMIM:610455 HPO 17.02.2009
OMIM:610455 TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL HP:0000951 Abnormality of the skin IEA IEA OMIM:610455 HPO 17.02.2009
OMIM:610455 TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL HP:0100529 Abnormality of phosphate homeostasis TAS TAS NOT NOT OMIM:610455 HPO:probinson 17.02.2009
+OMIM:610455 TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL HP:0003761 Calcinosis IEA IEA Disease name contained:tumoral calcinosis, normophosphatemic, OMIM:610455 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612783.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612783.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612783.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -11,3 +11,4 @@
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
+OMIM:612783 #612783 IMMUNODEFICIENCY 10; IMD10;;IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT2;;STIM1 DEFICIENCY HP:0002721 Immunodeficiency IEA IEA Disease name contained:#612783 immunodeficiency 10; imd10;;immune d OMIM:612783 HPO:skoehler 27.01.2015
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613024.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613024.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613024.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -0,0 +1 @@
+OMIM:613024 FOLLICULAR LYMPHOMA HP:0002665 Lymphoma IEA IEA Disease name contained:follicular lymphoma OMIM:613024 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613206.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613206.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613206.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -17,3 +17,4 @@
OMIM:613206 #613206 SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE; SPG44 HP:0002936 Distal sensory impairment IEA IEA frequent OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > DECREASED DISTAL SENSATION (IN 1 OF 3 PATIENTS) OMIM:613206 HPO:skoehler 03.06.2013
OMIM:613206 #613206 SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE; SPG44 HP:0002650 Scoliosis IEA IEA common OMIM-CS:SKELETAL_SPINE > SCOLIOSIS (IN 2 OF 3 PATIENTS) OMIM:613206 HPO:skoehler 03.06.2013
OMIM:613206 #613206 SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE; SPG44 HP:0000407 Sensorineural hearing impairment IEA IEA frequent OMIM-CS:HEAD AND NECK_EARS > SENSORINEURAL HEARING LOSS (IN 1 OF 3 PATIENTS) OMIM:613206 HPO:skoehler 04.05.2014
+OMIM:613206 #613206 SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE; SPG44 HP:0001258 Spastic paraplegia IEA IEA Disease name contained:#613206 spastic paraplegia 44, autosomal reces OMIM:613206 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613229.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613229.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613229.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -3,3 +3,4 @@
OMIM:613229 TRICHOTILLOMANIA; TTM HP:0000722 Obsessive-compulsive disorder IEA IEA OMIM:613229 HPO:skoehler 20.06.2010
OMIM:613229 TRICHOTILLOMANIA; TTM HP:0001426 Multifactorial inheritance IEA IEA OMIM:613229 HPO:skoehler 19.06.2010
OMIM:613229 TRICHOTILLOMANIA; TTM HP:0001596 Alopecia IEA IEA OMIM:613229 HPO:skoehler 20.06.2010
+OMIM:613229 TRICHOTILLOMANIA; TTM HP:0012167 Hair-pulling IEA IEA Disease name contained:trichotillomania; ttm OMIM:613229 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613424.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613424.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613424.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -4,3 +4,4 @@
OMIM:613424 CARDIOMYOPATHY, DILATED, 1R; CMD1R HP:0001712 Left ventricular hypertrophy IEA IEA rare OMIM:613424 HPO:skoehler 20.06.2010
OMIM:613424 CARDIOMYOPATHY, DILATED, 1R; CMD1R HP:0001723 Restrictive cardiomyopathy IEA IEA rare OMIM:613424 HPO:skoehler 20.06.2010
OMIM:613424 CARDIOMYOPATHY, DILATED, 1R; CMD1R HP:0004308 Ventricular arrhythmia IEA IEA rare OMIM:613424 HPO:skoehler 20.06.2010
+OMIM:613424 CARDIOMYOPATHY, DILATED, 1R; CMD1R HP:0001644 Dilated cardiomyopathy IEA IEA Disease name contained:cardiomyopathy, dilated, 1r; cmd1r OMIM:613424 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613558.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613558.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613558.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -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:613558 #613558 DEAFNESS, AUTOSOMAL DOMINANT 51; DFNA51;;CHROMOSOME 9q21.11 DUPLICATION SYNDROME HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT OMIM:613558 HPO:skoehler 17.10.2012
OMIM:613558 #613558 DEAFNESS, AUTOSOMAL DOMINANT 51; DFNA51;;CHROMOSOME 9q21.11 DUPLICATION SYNDROME HP:0003676 Progressive disorder IEA IEA OMIM-CS:MISCELLANEOUS > PROGRESSIVE DISORDER OMIM:613558 HPO:skoehler 17.10.2012
+OMIM:613558 #613558 DEAFNESS, AUTOSOMAL DOMINANT 51; DFNA51;;CHROMOSOME 9Q21.11 DUPLICATION SYNDROME HP:0000365 Hearing impairment IEA IEA Disease name contained:#613558 deafness, autosomal dominant OMIM:613558 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613623.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613623.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613623.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -21,3 +21,4 @@
OMIM:613623 613623 AGENESIS OF THE CORPUS CALLOSUM AND CONGENITAL LYMPHEDEMA HP:0001667 Right ventricular hypertrophy IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > RIGHT VENTRICULAR HYPERTROPHY (1 PATIENT) OMIM:613623 HPO:skoehler 18.11.2012
OMIM:613623 613623 AGENESIS OF THE CORPUS CALLOSUM AND CONGENITAL LYMPHEDEMA HP:0200086 Thin upper lip IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > THIN UPPER LIP OMIM:613623 HPO:skoehler 04.06.2013
OMIM:613623 613623 AGENESIS OF THE CORPUS CALLOSUM AND CONGENITAL LYMPHEDEMA HP:0001252 Muscular hypotonia IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > HYPOTONIA OMIM:613623 HPO:skoehler 26.11.2014
+OMIM:613623 613623 AGENESIS OF THE CORPUS CALLOSUM AND CONGENITAL LYMPHEDEMA HP:0001004 Lymphedema IEA IEA Disease name contained:osum and congenital lymphedema OMIM:613623 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614069.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614069.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614069.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -18,3 +18,4 @@
OMIM:614069 #614069 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME2; ICF2 HP:0000331 Small chin IEA IEA OMIM-CS:HEAD AND NECK_FACE > SMALL CHIN OMIM:614069 HPO:skoehler 02.04.2013
OMIM:614069 #614069 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME2; ICF2 HP:0000156 High-arched palate IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > HIGH-ARCHED PALATE OMIM:614069 HPO:skoehler 02.04.2013
OMIM:614069 #614069 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME2; ICF2 HP:0003577 Congenital onset IEA IEA OMIM-CS:MISCELLANEOUS > ONSET AT BIRTH OMIM:614069 HPO:skoehler 02.04.2013
+OMIM:614069 #614069 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME2; ICF2 HP:0002721 Immunodeficiency IEA IEA Disease name contained:#614069 immunodeficiency-centromeric instabi OMIM:614069 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614165.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614165.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614165.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -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:614165 #614165 PARAGANGLIOMAS 5; PGL5 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT OMIM:614165 HPO:skoehler 17.10.2012
+OMIM:614165 #614165 PARAGANGLIOMAS 5; PGL5 HP:0002668 Paraganglioma IEA IEA Disease name contained:#614165 paragangliomas 5; pgl5 OMIM:614165 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614369.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614369.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614369.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -9,3 +9,4 @@
OMIM:614369 #614369 PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS; PNMHH HP:0003202 Amyotrophy IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > DISTAL MUSCLE ATROPHY (LOWER LIMBS MORE AFFECTED THAN UPPER LIMBS) OMIM:614369 HPO:skoehler 22.01.2013
OMIM:614369 #614369 PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS; PNMHH HP:0001324 Muscle weakness IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > DISTAL MUSCLE WEAKNESS (FIRST AFFECTS ANTERIOR LEG MUSCLES, THEN POSTERIOR OMIM:614369 HPO:skoehler 22.01.2013
OMIM:614369 #614369 PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS; PNMHH HP:0001337 Tremor IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > TREMOR (3 PATIENTS) OMIM:614369 HPO:skoehler 22.01.2013
+OMIM:614369 #614369 PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS; PNMHH HP:0009830 Peripheral neuropathy IEA IEA Disease name contained:#614369 peripheral neuropathy, myopathy, hoarsene OMIM:614369 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614388.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614388.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614388.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -12,3 +12,4 @@
OMIM:614388 #614388 ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMALFISSION; EMPF HP:0001284 Areflexia IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > AREFLEXIA OMIM:614388 HPO:skoehler 17.10.2012
OMIM:614388 #614388 ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMALFISSION; EMPF HP:0001558 Decreased fetal movement IEA IEA OMIM-CS:PRENATAL MANIFESTATIONS_MOVEMENT > DECREASED FETAL MOVEMENT OMIM:614388 HPO:skoehler 17.10.2012
OMIM:614388 #614388 ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMALFISSION; EMPF HP:0001252 Muscular hypotonia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPOTONIA OMIM:614388 HPO:skoehler 26.11.2014
+OMIM:614388 #614388 ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMALFISSION; EMPF HP:0001298 Encephalopathy IEA IEA Disease name contained:#614388 encephalopathy, lethal, due to def OMIM:614388 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614614.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614614.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614614.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -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:614614 #614614 DEAFNESS, AUTOSOMAL DOMINANT 4B; DFNA4B HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT OMIM:614614 HPO:skoehler 17.10.2012
+OMIM:614614 #614614 DEAFNESS, AUTOSOMAL DOMINANT 4B; DFNA4B HP:0000365 Hearing impairment IEA IEA Disease name contained:#614614 deafness, autosomal dominant OMIM:614614 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614830.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614830.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614830.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -8,3 +8,4 @@
OMIM:614830 #614830 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 8; MDDGA8;;WALKER-WARBURG SYNDROME, GTDC2-RELATED HP:0000238 Hydrocephalus IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYDROCEPHALUS OMIM:614830 HPO:skoehler 17.10.2012
OMIM:614830 #614830 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 8; MDDGA8;;WALKER-WARBURG SYNDROME, GTDC2-RELATED HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > LACK OF PSYCHOMOTOR DEVELOPMENT OMIM:614830 HPO:skoehler 17.10.2012
OMIM:614830 #614830 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 8; MDDGA8;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, GTDC2-RELATED HP:0001252 Muscular hypotonia IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > HYPOTONIA OMIM:614830 HPO:skoehler 26.11.2014
+OMIM:614830 #614830 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 8; MDDGA8;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, GTDC2-RELATED HP:0003560 Muscular dystrophy IEA IEA Disease name contained:#614830 muscular dystrophy-dystroglycanopathy OMIM:614830 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615156.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615156.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615156.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -15,3 +15,4 @@
OMIM:615156 #615156 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 6; PEOA6;;PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT, 6 HP:0002870 Obstructive sleep apnea IEA IEA rare OMIM-CS:RESPIRATORY > OBSTRUCTIVE SLEEP APNEA (IN SOME PATIENTS) OMIM:615156 HPO:skoehler 18.04.2013
OMIM:615156 #615156 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 6; PEOA6;;PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT, 6 HP:0000508 Ptosis IEA IEA MODIFIER:MILD;OMIM-CS:HEAD AND NECK_EYES > PTOSIS, MILD OMIM:615156 HPO:skoehler 06.06.2013
OMIM:615156 #615156 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 6; PEOA6;;PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT, 6 HP:0003325 Limb-girdle muscle weakness IEA IEA MODIFIER:MILD;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, LIMB-GIRDLE, MILD OMIM:615156 HPO:skoehler 06.06.2013
+OMIM:615156 #615156 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 6; PEOA6;;PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT, 6 HP:0000590 Progressive external ophthalmoplegia IEA IEA Disease name contained:#615156 progressive external ophthalmoplegia with mitochondrial OMIM:615156 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615182.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615182.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615182.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -17,3 +17,4 @@
OMIM:615182 #615182 COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA; D2L2AD HP:0002093 Respiratory insufficiency IEA IEA OMIM-CS:RESPIRATORY > RESPIRATORY INSUFFICIENCY OMIM:615182 HPO:skoehler 03.05.2013
OMIM:615182 #615182 COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA; D2L2AD HP:0010307 Stridor IEA IEA OMIM-CS:RESPIRATORY > STRIDOR OMIM:615182 HPO:skoehler 03.05.2013
OMIM:615182 #615182 COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA; D2L2AD HP:0012448 Delayed myelination IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED MYELINATION OMIM:615182 HPO:skoehler 28.11.2013
+OMIM:615182 #615182 COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA; D2L2AD HP:0040144 L-2-hydroxyglutaric aciduria IEA IEA Disease name contained:2 combined d-2- and l-2-hydroxyglutaric aciduria; d2l2ad OMIM:615182 HPO:skoehler 27.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615513.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615513.tab 2015-01-27 16:48:07 UTC (rev 5280)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615513.tab 2015-01-27 20:13:02 UTC (rev 5281)
@@ -6,3 +6,4 @@
OMIM:615513 #615513 IMMUNODEFICIENCY 14; IMD14;;ACTIVATED PI3K-DELTA SYNDROME; APDS;;p110-DELTA-ACTIVATING MUTATION CAUSING SENESCENT T CELLS, LYMPHADENOPATHY,AND IMMUNODEFICIENCY; PASLI HP:0002205 Recurrent respiratory infections IEA IEA OMIM-CS:RESPIRATORY > RECURRENT RESPIRATORY INFECTIONS OMIM:615513 HPO:skoehler 24.06.2014
OMIM:615513 #615513 IMMUNODEFICIENCY 14; IMD14;;ACTIVATED PI3K-DELTA SYNDROME; APDS;;p110-DELTA-ACTIVATING MUTATION CAUSING SENESCENT T CELLS, LYMPHADENOPATHY,AND IMMUNODEFICIENCY; PASLI HP:0002110 Bronchiectasis IEA IEA OMIM-CS:RESPIRATORY_LUNG > BRONCHIECTASIS OMIM:615513 HPO:skoehler 24.06.2014
OMIM:615513 #615513 IMMUNODEFICIENCY 14; IMD14;;ACTIVATED PI3K-DELTA SYNDROME; APDS;;p110-DELTA-ACTIVATING MUTATION CAUSING SENESCENT T CELLS, LYMPHADENOPATHY,AND IMMUNODEFICIENCY; PASLI HP:0100658 Cellulitis IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > CELLULITIS OMIM:615513 HPO:skoehler 24.06.2014
+OMIM:615513 #615513 IMMUNODEFICIENCY 14; IMD14;;ACTIVATED PI3K-DELTA SY...
[truncated message content] |
|
From: <koe...@us...> - 2015-01-27 16:48:18
|
Revision: 5280
http://sourceforge.net/p/obo/svn/5280
Author: koehlers
Date: 2015-01-27 16:48:07 +0000 (Tue, 27 Jan 2015)
Log Message:
-----------
added a lot of manual annotations
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-103100.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-105150.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125420.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-150800.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-166600.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-180210.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-193240.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-194200.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-203200.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-208230.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-245150.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-254200.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-257400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-270685.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300291.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-301220.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-301310.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-304730.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-311010.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600625.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602782.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603165.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603513.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606711.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609039.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610357.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611523.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612271.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612674.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612949.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613105.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613494.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613495.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613587.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613628.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613860.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614433.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614817.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615503.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615816.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616099.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-103100.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-103100.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-103100.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -1,4 +1,5 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
OMIM:103100 ADIE PUPIL HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:103100 HPO 17.02.2009
-OMIM:103100 ADIE PUPIL HP:0000478 Abnormality of the eye IEA IEA OMIM:103100 HPO 17.02.2009
OMIM:103100 ADIE PUPIL HP:0001265 Hyporeflexia IEA IEA OMIM:103100 HPO 17.02.2009
+OMIM:103100 ADIE PUPIL HP:0012074 Tonic pupil TAS TAS Disease name contained:adie pupil OMIM:103100 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-105150.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-105150.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-105150.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -4,3 +4,5 @@
OMIM:105150 AMYLOIDOSIS VI HP:0001297 Stroke IEA IEA OMIM:105150 HPO:skoehler 20.06.2010
OMIM:105150 AMYLOIDOSIS VI HP:0002170 Intracranial hemorrhage IEA IEA OMIM:105150 HPO 17.02.2009
OMIM:105150 AMYLOIDOSIS VI HP:0003216 Generalized amyloid deposition IEA IEA OMIM:105150 HPO 17.02.2009
+OMIM:105150 AMYLOIDOSIS VI HP:0001342 Cerebral hemorrhage TAS TAS Disease name contained:loidosis|hereditary cerebral hemorrhage with amyloidosis, i OMIM:105150 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125420.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125420.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125420.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -1,4 +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:125420 DENTIN DYSPLASIA, TYPE II HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:125420 HPO:probinson Feb 17, 2009
OMIM:125420 DENTIN DYSPLASIA, TYPE II HP:0003771 Pulp stones TAS TAS OMIM:125420 HPO:skoehler Feb 17, 2009
-OMIM:125420 DENTIN DYSPLASIA, TYPE II HP:0010299 Abnormality of dentin TAS TAS OMIM:125420 HPO:probinson Apr 1, 2013
+OMIM:125420 DENTIN DYSPLASIA, TYPE II HP:0010299 Abnormality of dentin TAS TAS OMIM:125420 HPO:probinson Apr 1, 2013
+OMIM:125420 DENTIN DYSPLASIA, TYPE II HP:0011060 Dentinogenesis imperfecta limited to primary teeth TAS TAS Disease name contained:dentin dysplasia, type ii OMIM:125420 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-150800.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-150800.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-150800.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -7,4 +7,6 @@
OMIM:150800 LEIOMYOMA, HEREDITARY MULTIPLE, OF SKIN HP:0007620 Cutaneous leiomyoma IEA IEA OMIM:150800 HPO:skoehler Jun 20, 2010
OMIM:150800 #150800 HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC;;MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENALCELL CARCINOMA; MCUL1;;LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY; LRCC;;LEIOMYOMA, MULTIPLE CUTANEOUS; MCL HP:0003812 Phenotypic variability IEA IEA OMIM-CS:MISCELLANEOUS > HIGHLY VARIABLE PHENOTYPE OMIM:150800 HPO:skoehler Oct 17, 2012
OMIM:150800 #150800 HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC;;MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENALCELL CARCINOMA; MCUL1;;LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY; LRCC;;LEIOMYOMA, MULTIPLE CUTANEOUS; MCL HP:0003829 Incomplete penetrance IEA IEA OMIM-CS:MISCELLANEOUS > INCOMPLETE PENETRANCE OMIM:150800 HPO:skoehler Oct 17, 2012
-OMIM:150800 #150800 HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC;;MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENALCELL CARCINOMA; MCUL1;;LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY; LRCC;;LEIOMYOMA, MULTIPLE CUTANEOUS; MCL HP:0006755 Cutaneous leiomyosarcoma IEA IEA rare OMIM-CS:NEOPLASIA > CUTANEOUS LEIOMYOSARCOMA (LESS COMMON) OMIM:150800 HPO:skoehler Nov 18, 2012
+OMIM:150800 #150800 HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC;;MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENALCELL CARCINOMA; MCUL1;;LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY; LRCC;;LEIOMYOMA, MULTIPLE CUTANEOUS; MCL HP:0006755 Cutaneous leiomyosarcoma IEA IEA rare OMIM-CS:NEOPLASIA > CUTANEOUS LEIOMYOSARCOMA (LESS COMMON) OMIM:150800 HPO:skoehler Nov 18, 2012
+OMIM:150800 #150800 HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC;;MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENALCELL CARCINOMA; MCUL1;;LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY; LRCC;;LEIOMYOMA, MULTIPLE CUTANEOUS; MCL HP:0005584 Renal cell carcinoma TAS TAS Disease name contained:leiomyomatosis with renal carcinoma|familial multiple c OMIM:150800 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-166600.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-166600.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-166600.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -12,3 +12,5 @@
OMIM:166600 #166600 OSTEOPETROSIS, AUTOSOMAL DOMINANT 2; OPTA2;;OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE II;;MARBLE BONES, AUTOSOMAL DOMINANT;;OSTEOSCLEROSIS FRAGILIS GENERALISATA;;ALBERS-SCHONBERG DISEASE, AUTOSOMAL DOMINANT HP:0005528 Bone marrow hypocellularity IEA IEA rare OMIM-CS:HEMATOLOGY > BONE MARROW FAILURE (IN SOME PATIENTS) OMIM:166600 HPO:skoehler Nov 18, 2012
OMIM:166600 OSTEOPETROSIS, AUTOSOMAL DOMINANT 2 HP:0005106 Abnormality of the vertebral endplates IEA IEA OMIM:166600 HPO Apr 4, 2013
OMIM:166600 #166600 OSTEOPETROSIS, AUTOSOMAL DOMINANT 2; OPTA2;;OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE II;;MARBLE BONES, AUTOSOMAL DOMINANT;;OSTEOSCLEROSIS FRAGILIS GENERALISATA;;ALBERS-SCHONBERG DISEASE, AUTOSOMAL DOMINANT HP:0010628 Facial palsy IEA IEA OMIM-CS:HEAD AND NECK_FACE > FACIAL NERVE PALSY OMIM:166600 HPO:skoehler 26.11.2014
+OMIM:166600 #166600 OSTEOPETROSIS, AUTOSOMAL DOMINANT 2; OPTA2;;OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE II;;MARBLE BONES, AUTOSOMAL DOMINANT;;OSTEOSCLEROSIS FRAGILIS GENERALISATA;;ALBERS-SCHONBERG DISEASE, AUTOSOMAL DOMINANT HP:0011002 Osteopetrosis TAS TAS Disease name contained:antalbers-schönberg osteopetrosis|osteopetrosis autos OMIM:166600 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-180210.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-180210.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-180210.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -6,4 +6,6 @@
OMIM:180210 RETINOPATHY, PERICENTRAL PIGMENTARY, DOMINANT HP:0001146 Pigmentary retinal degeneration IEA IEA OMIM:180210 HPO 17.02.2009
OMIM:180210 RETINOPATHY, PERICENTRAL PIGMENTARY, DOMINANT HP:0007736 Pericentral retinal dystrophy IEA IEA OMIM:180210 HPO 17.02.2009
OMIM:180210 RETINOPATHY, PERICENTRAL PIGMENTARY, DOMINANT HP:0007737 Bony spicule pigmentary retinopathy IEA IEA OMIM:180210 HPO 17.02.2009
-OMIM:180210 RETINOPATHY, PERICENTRAL PIGMENTARY, DOMINANT HP:0007843 Attenuation of retinal blood vessels IEA IEA OMIM:180210 HPO 17.02.2009
+OMIM:180210 RETINOPATHY, PERICENTRAL PIGMENTARY, DOMINANT HP:0007843 Attenuation of retinal blood vessels IEA IEA OMIM:180210 HPO 17.02.2009
+OMIM:180210 RETINOPATHY, PERICENTRAL PIGMENTARY, DOMINANT HP:0000488 Retinopathy TAS TAS Disease name contained:retinopathy, pericentral pigmen OMIM:180210 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-193240.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-193240.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-193240.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -1,4 +1,5 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
OMIM:193240 VOCAL CORD PARALYSIS AND PTOSIS HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:193240 HPO 17.02.2009
OMIM:193240 VOCAL CORD PARALYSIS AND PTOSIS HP:0001488 Bilateral ptosis IEA IEA OMIM:193240 HPO 17.02.2009
-OMIM:193240 VOCAL CORD PARALYSIS AND PTOSIS HP:0003470 Paralysis IEA IEA OMIM:193240 HPO:skoehler 20.06.2010
+OMIM:193240 VOCAL CORD PARALYSIS AND PTOSIS HP:0001605 Vocal cord paralysis TAS TAS Disease name contained: and ptosisptosis - vocal cord paralysis|tucker syndrome|htt OMIM:193240 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-194200.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-194200.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-194200.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -7,4 +7,6 @@
OMIM:194200 WOLFF-PARKINSON-WHITE SYNDROME HP:0004763 Paroxysmal supraventricular tachycardia IEA IEA OMIM:194200 HPO Feb 17, 2009
OMIM:194200 WOLFF-PARKINSON-WHITE SYNDROME HP:0006677 Prolonged QRS complex IEA IEA OMIM:194200 HPO Feb 17, 2009
OMIM:194200 WOLFF-PARKINSON-WHITE SYNDROME HP:0006684 Ventricular preexcitation with multiple accessory pathways IEA IEA OMIM:194200 HPO Feb 17, 2009
-OMIM:194200 WOLFF-PARKINSON-WHITE SYNDROME HP:0005165 Shortened PR interval TAS TAS OMIM:194200 HPO:probinson Jun 10, 2012
+OMIM:194200 WOLFF-PARKINSON-WHITE SYNDROME HP:0005165 Shortened PR interval TAS TAS OMIM:194200 HPO:probinson Jun 10, 2012
+OMIM:194200 WOLFF-PARKINSON-WHITE SYNDROME HP:0001716 Wolff-Parkinson-White syndrome TAS TAS Disease name contained:wolff-parkinson-white syndrome OMIM:194200 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-203200.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-203200.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-203200.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -9,4 +9,6 @@
OMIM:203200 #203200 ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2;;OCULOCUTANEOUS ALBINISM, TYPE II;;OCULOCUTANEOUS ALBINISM, TYROSINASE-POSITIVE;;ALBINISM IIALBINISM, BROWN OCULOCUTANEOUS, INCLUDED; BOCA, INCLUDED;;BROWN OCULOCUTANEOUS ALBINISM, INCLUDED HP:0000486 Strabismus TAS TAS OMIM-CS:HEAD AND NECK_EYES > STRABISMUS OMIM:203200 HPO:skoehler Oct 17, 2012
OMIM:203200 ALBINISM, OCULOCUTANEOUS, TYPE II HP:0005599 Hypopigmentation of hair TAS TAS OMIM:203200 HPO:skoehler Feb 25, 2013
OMIM:203200 ALBINISM, OCULOCUTANEOUS, TYPE II HP:0000635 Blue irides TAS TAS OMIM:203200 HPO:skoehler Feb 25, 2013
-OMIM:203200 #203200 ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2;;OCULOCUTANEOUS ALBINISM, TYPE II;;OCULOCUTANEOUS ALBINISM, TYROSINASE-POSITIVE;;ALBINISM IIALBINISM, BROWN OCULOCUTANEOUS, INCLUDED; BOCA, INCLUDED;;BROWN OCULOCUTANEOUS ALBINISM, INCLUDED HP:0001010 Hypopigmentation of the skin TAS TAS OMIM-CS:HEAD AND NECK_EYES > DECREASED RETINAL PIGMENTATION OMIM:203200 HPO:skoehler Feb 25, 2013
+OMIM:203200 #203200 ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2;;OCULOCUTANEOUS ALBINISM, TYPE II;;OCULOCUTANEOUS ALBINISM, TYROSINASE-POSITIVE;;ALBINISM IIALBINISM, BROWN OCULOCUTANEOUS, INCLUDED; BOCA, INCLUDED;;BROWN OCULOCUTANEOUS ALBINISM, INCLUDED HP:0001010 Hypopigmentation of the skin TAS TAS OMIM-CS:HEAD AND NECK_EYES > DECREASED RETINAL PIGMENTATION OMIM:203200 HPO:skoehler Feb 25, 2013
+OMIM:203200 #203200 ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2;;OCULOCUTANEOUS ALBINISM, TYPE II;;OCULOCUTANEOUS ALBINISM, TYROSINASE-POSITIVE;;ALBINISM IIALBINISM, BROWN OCULOCUTANEOUS, INCLUDED; BOCA, INCLUDED;;BROWN OCULOCUTANEOUS ALBINISM, INCLUDED HP:0001022 Albinism TAS TAS Disease name contained:yrosinase-positive;;albinism iialbinism, brown o OMIM:203200 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-208230.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-208230.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-208230.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -21,4 +21,6 @@
OMIM:208230 ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD HP:0009473 Joint contracture of the hand TAS TAS OMIM:208230 HPO Feb 17, 2009
OMIM:208230 #208230 ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD; PPAC;;PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD;;SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY; SEDT-PA;;PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA; PPD HP:0100490 Camptodactyly of finger TAS TAS OMIM:208230 HPO:skoehler Oct 17, 2012
OMIM:208230 ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD HP:0003071 Flattened epiphyses TAS TAS OMIM:208230 HPO:probinson Apr 8, 2013
-OMIM:208230 ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD HP:0010580 Enlarged epiphyses TAS TAS OMIM:208230 HPO:probinson Apr 8, 2013
+OMIM:208230 ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD HP:0010580 Enlarged epiphyses TAS TAS OMIM:208230 HPO:probinson Apr 8, 2013
+OMIM:208230 ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD HP:0003040 Arthropathy TAS TAS Disease name contained:arthropathy, progressive pseudo OMIM:208230 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-245150.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-245150.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-245150.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -29,3 +29,5 @@
OMIM:245150 KEUTEL SYNDROME HP:0010655 Epiphyseal stippling IEA IEA OMIM:245150 HPO 17.02.2009
OMIM:245150 #245150 KEUTEL SYNDROME;;PULMONIC STENOSIS, BRACHYTELEPHALANGISM, AND CALCIFICATION OF CARTILAGES HP:0011109 Chronic sinusitis IEA IEA OMIM-CS:RESPIRATORY_NASOPHARYNX > CHRONIC SINUSITIS OMIM:245150 HPO:skoehler 17.10.2012
OMIM:245150 #245150 KEUTEL SYNDROME;;PULMONIC STENOSIS, BRACHYTELEPHALANGISM, AND CALCIFICATION OF CARTILAGES HP:0011800 Midface retrusion IEA IEA MODIFIER:MILD;OMIM-CS:HEAD AND NECK_FACE > MIDFACE HYPOPLASIA, MILD OMIM:245150 HPO:skoehler 28.11.2013
+OMIM:245150 #245150 KEUTEL SYNDROME;;PULMONIC STENOSIS, BRACHYTELEPHALANGISM, AND CALCIFICATION OF CARTILAGES HP:0001642 Pulmonic stenosis TAS TAS Disease name contained:ageskeutel syndrome|pulmonic stenosis - brachytelephalang OMIM:245150 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-254200.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-254200.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-254200.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -11,3 +11,5 @@
OMIM:254200 MYASTHENIA GRAVIS HP:0010628 Facial palsy IEA IEA OMIM:254200 HPO 17.02.2009
OMIM:254200 254200 MYASTHENIA GRAVIS; MG HP:0002960 Autoimmunity IEA IEA OMIM-CS:IMMUNOLOGY > AUTOIMMUNITY OMIM:254200 HPO:skoehler 17.10.2012
OMIM:254200 254200 MYASTHENIA GRAVIS; MG HP:0100522 Thymoma IEA IEA OMIM-CS:IMMUNOLOGY > THYMOMA OMIM:254200 HPO:skoehler 17.10.2012
+OMIM:254200 254200 MYASTHENIA GRAVIS; MG HP:0003473 Fatigable weakness TAS TAS Disease name contained:254200 myasthenia gravis; mg OMIM:254200 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-257400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-257400.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-257400.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -1,3 +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:257400 NYSTAGMUS, CONGENITAL MOTOR, AUTOSOMAL RECESSIVE HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:257400 HPO 17.02.2009
-OMIM:257400 NYSTAGMUS, CONGENITAL MOTOR, AUTOSOMAL RECESSIVE HP:0000639 Nystagmus TAS TAS OMIM:257400 HPO:probinson 17.02.2009
+OMIM:257400 NYSTAGMUS, CONGENITAL MOTOR, AUTOSOMAL RECESSIVE HP:0000639 Nystagmus TAS TAS OMIM:257400 HPO:probinson 17.02.2009
+OMIM:257400 NYSTAGMUS, CONGENITAL MOTOR, AUTOSOMAL RECESSIVE HP:0006934 Congenital nystagmus TAS TAS Disease name contained:nystagmus, congenital motor, autosomal re OMIM:257400 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-270685.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-270685.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-270685.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -14,3 +14,5 @@
OMIM:270685 SPASTIC PARAPLEGIA 17 HP:0003677 Slow progression IEA IEA OMIM:270685 HPO 17.02.2009
OMIM:270685 SPASTIC PARAPLEGIA 17 HP:0003693 Distal amyotrophy IEA IEA OMIM:270685 HPO 17.02.2009
OMIM:270685 #270685 SPASTIC PARAPLEGIA 17; SPG17;;SPASTIC PARAPLEGIA WITH AMYOTROPHY OF HANDS AND FEET;;SILVER SYNDROME;;SILVER SPASTIC PARAPLEGIA SYNDROME HP:0007340 Lower limb muscle weakness IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > LOWER LIMB WEAKNESS OMIM:270685 HPO:skoehler 17.10.2012
+OMIM:270685 #270685 SPASTIC PARAPLEGIA 17; SPG17;;SPASTIC PARAPLEGIA WITH AMYOTROPHY OF HANDS AND FEET;;SILVER SYNDROME;;SILVER SPASTIC PARAPLEGIA SYNDROME HP:0001258 Spastic paraplegia TAS TAS Disease name contained:raplegia 17; spg17;;spastic paraplegia with amyotrophy of OMIM:270685 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300291.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300291.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300291.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -2,4 +2,6 @@
OMIM:300291 #300291 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY;;HED-IDECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY, INCLUDED;;EDA-ID, INCLUDED;;HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMALDYSPLASIA, INCLUDED;;XHM-ED, INCLUDED HP:0000968 Ectodermal dysplasia IEA IEA OMIM:300291 HPO:skoehler Jan 9, 2013
OMIM:300291 #300291 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY;;HED-IDECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY, INCLUDED;;EDA-ID, INCLUDED;;HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMALDYSPLASIA, INCLUDED;;XHM-ED, INCLUDED HP:0001419 X-linked recessive inheritance IEA IEA OMIM:300291 HPO:skoehler Jan 11, 2013
OMIM:300291 #300291 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY;;HED-IDECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY, INCLUDED;;EDA-ID, INCLUDED;;HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMALDYSPLASIA, INCLUDED;;XHM-ED, INCLUDED HP:0002961 Dysgammaglobulinemia IEA IEA OMIM:300291 HPO:skoehler Jan 11, 2013
-OMIM:300291 #300291 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY;;HED-IDECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY, INCLUDED;;EDA-ID, INCLUDED;;HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMALDYSPLASIA, INCLUDED;;XHM-ED, INCLUDED HP:0002719 Recurrent infections IEA IEA OMIM:300291 HPO:skoehler Jan 11, 2013
+OMIM:300291 #300291 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY;;HED-IDECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY, INCLUDED;;EDA-ID, INCLUDED;;HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMALDYSPLASIA, INCLUDED;;XHM-ED, INCLUDED HP:0002719 Recurrent infections IEA IEA OMIM:300291 HPO:skoehler Jan 11, 2013
+OMIM:300291 #300291 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY;;HED-IDECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY, INCLUDED;;EDA-ID, INCLUDED;;HYPER-IGM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMALDYSPLASIA, INCLUDED;;XHM-ED, INCLUDED HP:0002721 Immunodeficiency TAS TAS Disease name contained: hypohidrotic, with immune deficiency;;hed-idectodermal d OMIM:300291 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-301220.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-301220.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-301220.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -12,3 +12,5 @@
MIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS HP:0004798 Recurrent infection of the gastrointestinal tract IEA IEA MIM:301220 HPO:probinson 03.03.2012
MIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS HP:0000572 Visual loss IEA IEA MIM:301220 HPO:probinson 03.03.2012
OMIM:301220 %301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS; PDR;;AMYLOIDOSIS, FAMILIAL CUTANEOUS HP:0012227 Urethral stricture IEA IEA OMIM-CS:GU > URETHRAL STRICTURE OMIM:301220 HPO:skoehler 02.04.2013
+OMIM:301220 %301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS; PDR;;AMYLOIDOSIS, FAMILIAL CUTANEOUS HP:0011034 Amyloidosis TAS TAS Disease name contained:anifestations; pdr;;amyloidosis, familial cutaneous OMIM:301220 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-301310.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-301310.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-301310.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -10,4 +10,6 @@
OMIM:301310 ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA HP:0002470 Nonprogressive cerebellar ataxia IEA IEA OMIM:301310 HPO 17.02.2009
OMIM:301310 ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA HP:0003487 Babinski sign IEA IEA OMIM:301310 HPO 17.02.2009
OMIM:301310 ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA HP:0003621 Juvenile onset IEA IEA OMIM:301310 HPO 17.02.2009
-OMIM:301310 ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA HP:0004840 Hypochromic microcytic anemia IEA IEA OMIM:301310 HPO 17.02.2009
+OMIM:301310 ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA HP:0004840 Hypochromic microcytic anemia IEA IEA OMIM:301310 HPO 17.02.2009
+OMIM:301310 ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA HP:0001924 Sideroblastic anemia TAS TAS Disease name contained:llar ataxiax-linked sideroblastic anemia with ataxia|http:// OMIM:301310 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-304730.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-304730.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-304730.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -1,3 +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:304730 DERMOIDS OF CORNEA HP:0000478 Abnormality of the eye IEA IEA OMIM:304730 HPO 17.02.2009
OMIM:304730 DERMOIDS OF CORNEA HP:0001417 X-linked inheritance IEA IEA OMIM:304730 HPO 17.02.2009
+OMIM:304730 DERMOIDS OF CORNEA HP:0007957 Corneal opacity TAS TAS OMIM-CS OMIM:304730 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-311010.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-311010.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-311010.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -1,4 +1,5 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
OMIM:311010 V-RAF MURINE SARCOMA 3611 VIRAL ONCOGENE HOMOLOG 1 HP:0001417 X-linked inheritance IEA IEA OMIM:311010 HPO 17.02.2009
OMIM:311010 V-RAF MURINE SARCOMA 3611 VIRAL ONCOGENE HOMOLOG 1 HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:311010 HPO 17.02.2009
-OMIM:311010 V-RAF MURINE SARCOMA 3611 VIRAL ONCOGENE HOMOLOG 1 HP:0002664 Neoplasm IEA IEA OMIM:311010 HPO 17.02.2009
+OMIM:311010 V-RAF MURINE SARCOMA 3611 VIRAL ONCOGENE HOMOLOG 1 HP:0100242 Sarcoma TAS TAS Disease name contained:v-raf murine sarcoma 3611 viral oncogene OMIM:311010 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600625.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600625.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600625.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -1,3 +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:600625 OROFACIAL CLEFT 11 CLEFT LIP, CONGENITAL HEALED, INCLUDED CONGENITAL HEALED CLEFT LIP, INCLUDED MIM:112262 BONE MORPHOGENETIC PROTEIN 4 BMP2B1 BMP4 HP:0001472 Familial predisposition PCS PCS hallmark MIM:600625 HPO 11.05.2010
MIM:600625 OROFACIAL CLEFT 11 CLEFT LIP, CONGENITAL HEALED, INCLUDED CONGENITAL HEALED CLEFT LIP, INCLUDED MIM:112262 BONE MORPHOGENETIC PROTEIN 4 BMP2B1 BMP4 HP:0000202 Cleft lip/palate PCS PCS hallmark MIM:600625 HPO 11.05.2010
+OMIM:600625 OROFACIAL CLEFT 11 CLEFT LIP, CONGENITAL HEALED, INCLUDED CONGENITAL HEALED CLEFT LIP, INCLUDED HP:0002006 Facial cleft TAS TAS Disease name contained:orofacial cleft 11 cleft lip, conge OMIM:600625 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602782.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602782.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602782.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -25,3 +25,5 @@
OMIM:602782 #602782 HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME;;HISTIOCYTOSIS AND LYMPHADENOPATHY WITH OR WITHOUT CUTANEOUS, CARDIAC,AND/OR ENDOCRINE FEATURES, JOINT CONTRACTURES, AND/OR DEAFNESS;;HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY,HEART ANOMALIES, AND HYPOGONADISM WITH OR WITHOUT HEARING LOSS;;H SYNDROME;;PIGMENTED HYPERTRICHOSIS WITH INSULIN-DEPENDENT DIABETES MELLITUS;PHID;;HISTIOCYTOSIS WITH JOINT CONTRACTURES AND SENSORINEURAL DEAFNESS;HJCD;;FAISALABAD HISTIOCYTOSIS;;ROSAI-DORFMAN DISEASE, FAMILIAL;;SINUS HISTIOCYTOSIS AND MASSIVE LYMPHADENOPATHY; SHML HP:0000407 Sensorineural hearing impairment IEA IEA OMIM-CS:HEAD AND NECK_EARS > HEARING LOSS, SENSORINEURAL OMIM:602782 HPO:skoehler 21.11.2012
OMIM:602782 #602782 HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME;;HISTIOCYTOSIS AND LYMPHADENOPATHY WITH OR WITHOUT CUTANEOUS, CARDIAC,AND/OR ENDOCRINE FEATURES, JOINT CONTRACTURES, AND/OR DEAFNESS;;HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY,HEART ANOMALIES, AND HYPOGONADISM WITH OR WITHOUT HEARING LOSS;;H SYNDROME;;PIGMENTED HYPERTRICHOSIS WITH INSULIN-DEPENDENT DIABETES MELLITUS;PHID;;HISTIOCYTOSIS WITH JOINT CONTRACTURES AND SENSORINEURAL DEAFNESS;HJCD;;FAISALABAD HISTIOCYTOSIS;;ROSAI-DORFMAN DISEASE, FAMILIAL;;SINUS HISTIOCYTOSIS AND MASSIVE LYMPHADENOPATHY; SHML HP:0012385 Camptodactyly IEA IEA OMIM-CS:SKELETAL_HANDS > CAMPTODACTYLY OMIM:602782 HPO:skoehler 22.10.2013
OMIM:602782 #602782 HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME;;HISTIOCYTOSIS AND LYMPHADENOPATHY WITH OR WITHOUT CUTANEOUS, CARDIAC,AND/OR ENDOCRINE FEATURES, JOINT CONTRACTURES, AND/OR DEAFNESS;;HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY,HEART ANOMALIES, AND HYPOGONADISM WITH OR WITHOUT HEARING LOSS;;H SYNDROME;;PIGMENTED HYPERTRICHOSIS WITH INSULIN-DEPENDENT DIABETES MELLITUS;PHID;;HISTIOCYTOSIS WITH JOINT CONTRACTURES AND SENSORINEURAL DEAFNESS;HJCD;;FAISALABAD HISTIOCYTOSIS;;ROSAI-DORFMAN DISEASE, FAMILIAL;;SINUS HISTIOCYTOSIS AND MASSIVE LYMPHADENOPATHY; SHML HP:0030084 Clinodactyly IEA IEA OMIM-CS:SKELETAL_HANDS > CLINODACTYLY OMIM:602782 HPO:skoehler 21.09.2014
+OMIM:602782 #602782 HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME;;HISTIOCYTOSIS AND LYMPHADENOPATHY WITH OR WITHOUT CUTANEOUS, CARDIAC,AND/OR ENDOCRINE FEATURES, JOINT CONTRACTURES, AND/OR DEAFNESS;;HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY,HEART ANOMALIES, AND HYPOGONADISM WITH OR WITHOUT HEARING LOSS;;H SYNDROME;;PIGMENTED HYPERTRICHOSIS WITH INSULIN-DEPENDENT DIABETES MELLITUS;PHID;;HISTIOCYTOSIS WITH JOINT CONTRACTURES AND SENSORINEURAL DEAFNESS;HJCD;;FAISALABAD HISTIOCYTOSIS;;ROSAI-DORFMAN DISEASE, FAMILIAL;;SINUS HISTIOCYTOSIS AND MASSIVE LYMPHADENOPATHY; SHML HP:0100727 Histiocytosis TAS TAS Disease name contained:#602782 histiocytosis-lymphadenopathy plu OMIM:602782 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603165.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603165.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603165.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -15,3 +15,5 @@
OMIM:603165 DERMATITIS, ATOPIC HP:0007453 Flexural lichenification IEA IEA OMIM:603165 HPO Feb 17, 2009
OMIM:603165 DERMATITIS, ATOPIC HP:0008064 Ichthyosiform abnormality of the skin IEA IEA OMIM:603165 HPO Feb 17, 2009
OMIM:603165 %603165 DERMATITIS, ATOPIC;;ATOD;;ECZEMA, ATOPICDERMATITIS, ATOPIC, 1, INCLUDED; ATOD1, INCLUDED HP:0012537 Food intolerance IEA IEA OMIM-CS:MISCELLANEOUS > FOOD INTOLERANCE OMIM:603165 HPO:skoehler 28.01.2014
+OMIM:603165 %603165 DERMATITIS, ATOPIC;;ATOD;;ECZEMA, ATOPICDERMATITIS, ATOPIC, 1, INCLUDED; ATOD1, INCLUDED HP:0001047 Atopic dermatitis TAS TAS Disease name contained:%603165 dermatitis, atopic;;atod;;eczema, atop OMIM:603165 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603513.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603513.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603513.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -11,4 +11,6 @@
OMIM:603513 CEREBRAL PALSY, SPASTIC, SYMMETRIC, AUTOSOMAL RECESSIVE HP:0002510 Spastic tetraplegia IEA IEA OMIM:603513 HPO:skoehler Jun 18, 2010
OMIM:603513 CEREBRAL PALSY, SPASTIC, SYMMETRIC, AUTOSOMAL RECESSIVE HP:0002650 Scoliosis IEA IEA OMIM:603513 HPO Feb 17, 2009
OMIM:603513 CEREBRAL PALSY, SPASTIC, SYMMETRIC, AUTOSOMAL RECESSIVE HP:0003487 Babinski sign IEA IEA OMIM:603513 HPO Feb 17, 2009
-OMIM:603513 CEREBRAL PALSY, SPASTIC, SYMMETRIC, AUTOSOMAL RECESSIVE HP:0003593 Infantile onset IEA IEA OMIM:603513 HPO Feb 17, 2009
+OMIM:603513 CEREBRAL PALSY, SPASTIC, SYMMETRIC, AUTOSOMAL RECESSIVE HP:0003593 Infantile onset IEA IEA OMIM:603513 HPO Feb 17, 2009
+OMIM:603513 CEREBRAL PALSY, SPASTIC, SYMMETRIC, AUTOSOMAL RECESSIVE HP:0100021 Cerebral palsy TAS TAS Disease name contained:cerebral palsy, spastic, symmetric OMIM:603513 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606711.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606711.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606711.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -4,3 +4,5 @@
OMIM:606711 SPECIFIC LANGUAGE IMPAIRMENT 1 HP:0002526 Deficit in nonword repetition (NWR) IEA IEA OMIM:606711 HPO 17.02.2009
OMIM:606711 SPECIFIC LANGUAGE IMPAIRMENT 1 HP:0002549 Deficit in phonologic short-term memory IEA IEA OMIM:606711 HPO 17.02.2009
OMIM:606711 %606711 SPECIFIC LANGUAGE IMPAIRMENT 1; SLI1;;SPECIFIC LANGUAGE IMPAIRMENT QUANTITATIVE TRAIT LOCUS ON CHROMOSOME16 HP:0001249 Intellectual disability IEA IEA NOT NOT OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > NORMAL INTELLIGENCE OMIM:606711 HPO:skoehler 26.11.2014
+OMIM:606711 %606711 SPECIFIC LANGUAGE IMPAIRMENT 1; SLI1;;SPECIFIC LANGUAGE IMPAIRMENT QUANTITATIVE TRAIT LOCUS ON CHROMOSOME16 HP:0002463 Language impairment TAS TAS Disease name contained:t 1; sli1;;specific language impairment quantitative trait OMIM:606711 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609039.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609039.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609039.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -4,4 +4,6 @@
OMIM:609039 NARCOLEPSY 3 HP:0002330 Paroxysmal drowsiness IEA IEA OMIM:609039 HPO 17.02.2009
OMIM:609039 NARCOLEPSY 3 HP:0002494 Abnormal rapid eye movement (REM) sleep IEA IEA OMIM:609039 HPO 17.02.2009
OMIM:609039 NARCOLEPSY 3 HP:0002519 Hypnagogic hallucinations IEA IEA OMIM:609039 HPO 17.02.2009
-OMIM:609039 NARCOLEPSY 3 HP:0002524 Cataplexy IEA IEA OMIM:609039 HPO 17.02.2009
+OMIM:609039 NARCOLEPSY 3 HP:0002524 Cataplexy IEA IEA OMIM:609039 HPO 17.02.2009
+OMIM:609039 NARCOLEPSY 3 HP:0030050 Narcolepsy TAS TAS Disease name contained:narcolepsy 3 OMIM:609039 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610357.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610357.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610357.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -12,4 +12,6 @@
OMIM:610357 #610357 SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE; SPG30 HP:0007340 Lower limb muscle weakness IEA IEA common OMIM-CS:MUSCLE, SOFT TISSUE > LOWER LIMB MUSCLE WEAKNESS (IN 2 OF 3 FAMILIES) OMIM:610357 HPO:skoehler Nov 21, 2012
OMIM:610357 #610357 SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE; SPG30 HP:0001251 Ataxia IEA IEA frequent OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR ATAXIA (IN 1 OF 3 FAMILIES) OMIM:610357 HPO:skoehler Nov 21, 2012
OMIM:610357 #610357 SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE; SPG30 HP:0001310 Dysmetria IEA IEA frequent OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DYSMETRIA (IN 1 OF 3 FAMILIES) OMIM:610357 HPO:skoehler Nov 21, 2012
-OMIM:610357 #610357 SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE; SPG30 HP:0003477 Peripheral axonal neuropathy IEA IEA common OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > AXONAL NEUROPATHY (IN 2 OF 3 FAMILIES) OMIM:610357 HPO:skoehler Nov 21, 2012
+OMIM:610357 #610357 SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE; SPG30 HP:0003477 Peripheral axonal neuropathy IEA IEA common OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > AXONAL NEUROPATHY (IN 2 OF 3 FAMILIES) OMIM:610357 HPO:skoehler Nov 21, 2012
+OMIM:610357 #610357 SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE; SPG30 HP:0001258 Spastic paraplegia TAS TAS Disease name contained:#610357 spastic paraplegia 30, autosomal reces OMIM:610357 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611523.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611523.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611523.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -24,3 +24,5 @@
OMIM:611523 #611523 PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6;;ENCEPHALOPATHY, FATAL INFANTILE, WITH MITOCHONDRIAL RESPIRATORY CHAINDEFECTS HP:0006986 Upper limb spasticity IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > LIMB SPASTICITY OMIM:611523 HPO:skoehler Nov 20, 2012
OMIM:611523 #611523 PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6;;ENCEPHALOPATHY, FATAL INFANTILE, WITH MITOCHONDRIAL RESPIRATORY CHAINDEFECTS HP:0000253 Progressive microcephaly IEA IEA OMIM-CS:HEAD AND NECK_HEAD > MICROCEPHALY, PROGRESSIVE OMIM:611523 HPO:skoehler 22.01.2013
OMIM:611523 #611523 PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6;;ENCEPHALOPATHY, FATAL INFANTILE, WITH MITOCHONDRIAL RESPIRATORY CHAINDEFECTS HP:0001252 Muscular hypotonia IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > HYPOTONIA OMIM:611523 HPO:skoehler 26.11.2014
+OMIM:611523 #611523 PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6;;ENCEPHALOPATHY, FATAL INFANTILE, WITH MITOCHONDRIAL RESPIRATORY CHAINDEFECTS HP:0001321 Cerebellar hypoplasia TAS TAS Disease name contained:#611523 pontocerebellar hypoplasia, type 6; pch6;;ence OMIM:611523 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612271.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612271.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612271.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -1,4 +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:612271 #612271 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 11; SHEP11;;MELANESIAN BLOND HAIR;;SKIN/HAIR/EYE PIGMENTATION 11, BLUE/NONBLUE EYES HP:0009887 Abnormality of hair pigmentation IEA IEA OMIM:612271 HPO:skoehler Jan 9, 2013
OMIM:612271 #612271 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 11; SHEP11;;MELANESIAN BLOND HAIR;;SKIN/HAIR/EYE PIGMENTATION 11, BLUE/NONBLUE EYES HP:0001000 Abnormality of skin pigmentation IEA IEA OMIM:612271 HPO:skoehler Jan 10, 2013
-OMIM:612271 #612271 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 11; SHEP11;;MELANESIAN BLOND HAIR;;SKIN/HAIR/EYE PIGMENTATION 11, BLUE/NONBLUE EYES HP:0008034 Abnormal iris pigmentation IEA IEA OMIM:612271 HPO:skoehler Jan 10, 2013
+OMIM:612271 #612271 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 11; SHEP11;;MELANESIAN BLOND HAIR;;SKIN/HAIR/EYE PIGMENTATION 11, BLUE/NONBLUE EYES HP:0008034 Abnormal iris pigmentation IEA IEA OMIM:612271 HPO:skoehler Jan 10, 2013
+OMIM:612271 #612271 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 11; SHEP11;;MELANESIAN BLOND HAIR;;SKIN/HAIR/EYE PIGMENTATION 11, BLUE/NONBLUE EYES HP:0000635 Blue irides TAS TAS Disease name contained:ntation 11, blue/nonblue eyes OMIM:612271 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612674.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612674.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612674.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -23,3 +23,5 @@
OMIM:612674 #612674 POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT;PHARC HP:0001272 Cerebellar atrophy IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR ATROPHY OMIM:612674 HPO:skoehler 17.10.2012
OMIM:612674 #612674 POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT;PHARC HP:0001310 Dysmetria IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DYSMETRIA OMIM:612674 HPO:skoehler 17.10.2012
OMIM:612674 #612674 POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT;PHARC HP:0001771 Achilles tendon contracture IEA IEA OMIM-CS:SKELETAL_FEET > ACHILLES TENDON CONTRACTURE OMIM:612674 HPO:skoehler 17.10.2012
+OMIM:612674 #612674 POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT;PHARC HP:0001271 Polyneuropathy TAS TAS Disease name contained:#612674 polyneuropathy, hearing loss, atax OMIM:612674 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612949.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612949.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612949.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -7,3 +7,5 @@
OMIM:612949 HYPOMYELINATION, GLOBAL CEREBRAL HP:0001347 Hyperreflexia IEA IEA OMIM:612949 HPO:skoehler 19.06.2010
OMIM:612949 HYPOMYELINATION, GLOBAL CEREBRAL HP:0003593 Infantile onset IEA IEA OMIM:612949 HPO:skoehler 19.06.2010
OMIM:612949 HYPOMYELINATION, GLOBAL CEREBRAL HP:0006829 Severe muscular hypotonia IEA IEA OMIM:612949 HPO:skoehler 19.06.2010
+OMIM:612949 HYPOMYELINATION, GLOBAL CEREBRAL HP:0006808 Cerebral hypomyelination TAS TAS Disease name contained:hypomyelination, global cerebral OMIM:612949 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613105.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613105.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613105.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -1,3 +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:613105 CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2; CACD2 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:613105 HPO:skoehler 19.06.2010
OMIM:613105 CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2; CACD2 HP:0000613 Photophobia IEA IEA OMIM:613105 HPO:skoehler 19.06.2010
+OMIM:613105 CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2; CACD2 HP:0007712 Choroidal dystrophy TAS TAS Disease name contained:choroidal dystrophy, central areolar 2; OMIM:613105 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613494.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613494.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613494.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -8,3 +8,5 @@
OMIM:613494 #613494 IMMUNODEFICIENCY, COMMON VARIABLE, 4; CVID4;;ANTIBODY DEFICIENCY DUE TO BAFFR DEFECT HP:0011108 Recurrent sinusitis IEA IEA OMIM-CS:HEAD AND NECK_HEAD > SINUSITIS, RECURRENT OMIM:613494 HPO:skoehler 21.11.2012
OMIM:613494 #613494 IMMUNODEFICIENCY, COMMON VARIABLE, 4; CVID4;;ANTIBODY DEFICIENCY DUE TO BAFFR DEFECT HP:0006532 Recurrent pneumonia IEA IEA OMIM-CS:RESPIRATORY_LUNG > PNEUMONIA, RECURRENT OMIM:613494 HPO:skoehler 21.11.2012
OMIM:613494 #613494 IMMUNODEFICIENCY, COMMON VARIABLE, 4; CVID4;;ANTIBODY DEFICIENCY DUE TO BAFFR DEFECT HP:0011839 Abnormality of T cell number IEA IEA NOT NOT OMIM-CS:IMMUNOLOGY > NORMAL NUMBERS OF T CELLS OMIM:613494 HPO:skoehler 27.11.2014
+OMIM:613494 #613494 IMMUNODEFICIENCY, COMMON VARIABLE, 4; CVID4;;ANTIBODY DEFICIENCY DUE TO BAFFR DEFECT HP:0002721 Immunodeficiency TAS TAS Disease name contained:#613494 immunodeficiency, common variable, 4 OMIM:613494 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613495.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613495.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613495.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -5,3 +5,5 @@
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
+OMIM:613495 #613495 IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5;;ANTIBODY DEFICIENCY DUE TO CD20 DEFECT HP:0002721 Immunodeficiency TAS TAS Disease name contained:#613495 immunodeficiency, common variable, 5 OMIM:613495 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613587.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613587.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613587.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -1,3 +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:613587 #613587 OCCULT MACULAR DYSTROPHY; OCMD;;OMD HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT OMIM:613587 HPO:skoehler 17.10.2012
OMIM:613587 #613587 OCCULT MACULAR DYSTROPHY; OCMD;;OMD HP:0007924 Slow decrease in visual acuity IEA IEA OMIM-CS:HEAD AND NECK_EYES > DECREASED VISUAL ACUITY, SLOWLY PROGRESSIVE OMIM:613587 HPO:skoehler 31.05.2013
+OMIM:613587 #613587 OCCULT MACULAR DYSTROPHY; OCMD;;OMD HP:0007754 Macular dystrophy TAS TAS Disease name contained:#613587 occult macular dystrophy; ocmd;;omd OMIM:613587 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613628.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613628.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613628.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -2,3 +2,5 @@
OMIM:613628 %613628 ODONTOID HYPOPLASIA HP:0008462 Cervical instability IEA IEA OMIM-CS:HEAD AND NECK_NECK > CERVICAL INSTABILITY OMIM:613628 HPO:skoehler 17.10.2012
OMIM:613628 %613628 ODONTOID HYPOPLASIA HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT OMIM:613628 HPO:skoehler 17.10.2012
OMIM:613628 %613628 ODONTOID HYPOPLASIA HP:0003467 Atlantoaxial instability IEA IEA OMIM-CS:SKELETAL_SPINE > ATLANTOAXIAL INSTABILITY OMIM:613628 HPO:skoehler 17.10.2012
+OMIM:613628 %613628 ODONTOID HYPOPLASIA HP:0003311 Hypoplasia of the odontoid process TAS TAS Disease name contained:%613628 odontoid hypoplasia OMIM:613628 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613860.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613860.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613860.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -2,4 +2,6 @@
OMIM:613860 #613860 IMMUNODEFICIENCY DUE TO FICOLIN 3 DEFICIENCY;;FICOLIN 3 DEFICIENCY;;FCN3 DEFICIENCY FCN3 HP:0000007 Autosomal recessive inheritance PCS PCS pmid:19535802 HPO:probinson Jan 9, 2013
OMIM:613860 #613860 IMMUNODEFICIENCY DUE TO FICOLIN 3 DEFICIENCY;;FICOLIN 3 DEFICIENCY;;FCN3 DEFICIENCY FCN3 HP:0002783 Recurrent lower respiratory tract infections PCS PCS pmid:19535802 HPO:probinson Feb 23, 2013
OMIM:613860 #613860 IMMUNODEFICIENCY DUE TO FICOLIN 3 DEFICIENCY;;FICOLIN 3 DEFICIENCY;;FCN3 DEFICIENCY FCN3 HP:0002722 Recurrent abscess formation PCS PCS pmid:19535802 HPO:probinson Feb 23, 2013
-OMIM:613860 #613860 IMMUNODEFICIENCY DUE TO FICOLIN 3 DEFICIENCY;;FICOLIN 3 DEFICIENCY;;FCN3 DEFICIENCY FCN3 HP:0200043 Verrucae PCS PCS pmid:19535802 HPO:probinson Feb 23, 2013
+OMIM:613860 #613860 IMMUNODEFICIENCY DUE TO FICOLIN 3 DEFICIENCY;;FICOLIN 3 DEFICIENCY;;FCN3 DEFICIENCY FCN3 HP:0200043 Verrucae PCS PCS pmid:19535802 HPO:probinson Feb 23, 2013
+OMIM:613860 #613860 IMMUNODEFICIENCY DUE TO FICOLIN 3 DEFICIENCY;;FICOLIN 3 DEFICIENCY;;FCN3 DEFICIENCY HP:0002721 Immunodeficiency TAS TAS Disease name contained:#613860 immunodeficiency due to ficolin 3 de OMIM:613860 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614433.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614433.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614433.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -1,2 +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:614433 #614433 ATRIAL SEPTAL DEFECT 8; ASD8 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT OMIM:614433 HPO:skoehler 17.10.2012
+OMIM:614433 #614433 ATRIAL SEPTAL DEFECT 8; ASD8 HP:0001631 Defect in the atrial septum TAS TAS Disease name contained:#614433 atrial septal defect 8; asd8 OMIM:614433 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614817.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614817.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614817.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -9,3 +9,5 @@
OMIM:614817 #614817 INTERSTITIAL NEPHRITIS, KARYOMEGALIC; KMIN HP:0003676 Progressive disorder IEA IEA OMIM-CS:MISCELLANEOUS > PROGRESSIVE DISORDER OMIM:614817 HPO:skoehler 17.10.2012
OMIM:614817 #614817 INTERSTITIAL NEPHRITIS, KARYOMEGALIC; KMIN HP:0002910 Elevated hepatic transaminases IEA IEA rare OMIM-CS:LABORATORY ABNORMALITIES > ABNORMAL LIVER FUNCTION TESTS (IN SOME PATIENTS) OMIM:614817 HPO:skoehler 18.11.2012
OMIM:614817 #614817 INTERSTITIAL NEPHRITIS, KARYOMEGALIC; KMIN HP:0000790 Hematuria IEA IEA rare OMIM-CS:LABORATORY ABNORMALITIES > HEMATURIA (LESS COMMON) OMIM:614817 HPO:skoehler 18.11.2012
+OMIM:614817 #614817 INTERSTITIAL NEPHRITIS, KARYOMEGALIC; KMIN HP:0001970 Tubulointerstitial nephritis TAS TAS Disease name contained:#614817 interstitial nephritis, karyomegalic; kmin OMIM:614817 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615503.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615503.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615503.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -20,3 +20,5 @@
OMIM:615503 #615503 SHORT RIB-POLYDACTYLY SYNDROME, TYPE VI; SRPS6 HP:0000256 Macrocephaly IEA IEA OMIM-CS:SKELETAL_SKULL > MACROCEPHALY OMIM:615503 HPO:skoehler 18.11.2013
OMIM:615503 #615503 SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE VI; SRPS6 HP:0003026 Short long bones IEA IEA OMIM-CS:SKELETAL_LIMBS > SHORT LONG BONES ON PRENATAL ULTRASOUND OMIM:615503 HPO:skoehler 24.06.2014
OMIM:615503 #615503 SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE VI; SRPS6 HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY OMIM:615503 HPO:skoehler 26.11.2014
+OMIM:615503 #615503 SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE VI; SRPS6 HP:0006644 Thoracic dysplasia TAS TAS Disease name contained:#615503 short-rib thoracic dysplasia 8 with or without p OMIM:615503 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615816.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615816.tab 2015-01-26 20:38:21 UTC (rev 5279)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615816.tab 2015-01-27 16:48:07 UTC (rev 5280)
@@ -19,3 +19,5 @@
OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0002650 Scoliosis IEA IEA OMIM-CS:SKELETAL_SPINE > SCOLIOSIS OMIM:615816 HPO:skoehler 11.07.2014
OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONU...
[truncated message content] |
|
From: <koe...@us...> - 2015-01-26 20:38:31
|
Revision: 5279
http://sourceforge.net/p/obo/svn/5279
Author: koehlers
Date: 2015-01-26 20:38:21 +0000 (Mon, 26 Jan 2015)
Log Message:
-----------
even more manual annotation additions
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-106700.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-113970.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-131450.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-141300.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-157151.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-170390.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-176500.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-189800.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-217800.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-254190.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-268020.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-312920.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600334.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601414.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601634.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607475.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608380.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610217.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611105.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611773.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612095.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613285.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613744.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614376.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614945.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615439.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615630.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615723.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616118.tab
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300263.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-106700.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-106700.tab 2015-01-26 19:45:23 UTC (rev 5278)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-106700.tab 2015-01-26 20:38:21 UTC (rev 5279)
@@ -4,4 +4,6 @@
OMIM:106700 TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1 HP:0002092 Pulmonary hypertension IEA IEA OMIM:106700 HPO Feb 17, 2009
OMIM:106700 TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1 HP:0002205 Recurrent respiratory infections IEA IEA OMIM:106700 HPO Feb 17, 2009
OMIM:106700 TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1 HP:0009884 Tapered distal phalanges of the hand IEA IEA rare OMIM:106700 HPO:skoehler Oct 12, 2012
-OMIM:106700 TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1 HP:0008386 Aplasia/Hypoplasia of the nails IEA IEA OMIM:106700 HPO:skoehler Oct 12, 2012
+OMIM:106700 TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1 HP:0008386 Aplasia/Hypoplasia of the nails IEA IEA OMIM:106700 HPO:skoehler Oct 12, 2012
+OMIM:106700 TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1 HP:0005160 Total anomalous pulmonary venous return TAS TAS Disease name contained:total anomalous pulmonary venous return 1 OMIM:106700 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-113970.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-113970.tab 2015-01-26 19:45:23 UTC (rev 5278)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-113970.tab 2015-01-26 20:38:21 UTC (rev 5279)
@@ -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:113970 BURKITT LYMPHOMA HP:0002665 Lymphoma IEA IEA OMIM:113970 HPO:skoehler 20.06.2010
+OMIM:113970 BURKITT LYMPHOMA HP:0030080 Burkitt lymphoma TAS TAS Disease name contained:burkitt lymphoma OMIM:113970 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-131450.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-131450.tab 2015-01-26 19:45:23 UTC (rev 5278)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-131450.tab 2015-01-26 20:38:21 UTC (rev 5279)
@@ -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:131450 EPIBLEPHARON OF LOWER LID HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:131450 HPO 17.02.2009
-OMIM:131450 EPIBLEPHARON OF LOWER LID HP:0000478 Abnormality of the eye IEA IEA OMIM:131450 HPO 17.02.2009
+OMIM:131450 EPIBLEPHARON OF LOWER LID HP:0011225 Epiblepharon TAS TAS Disease name contained:epiblepharon of lower lid OMIM:131450 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-141300.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-141300.tab 2015-01-26 19:45:23 UTC (rev 5278)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-141300.tab 2015-01-26 20:38:21 UTC (rev 5279)
@@ -14,4 +14,6 @@
OMIM:141300 HEMIFACIAL ATROPHY, PROGRESSIVE HP:0003674 Onset IEA IEA OMIM:141300 HPO Feb 17, 2009
OMIM:141300 HEMIFACIAL ATROPHY, PROGRESSIVE HP:0003778 Short mandibular rami IEA IEA OMIM:141300 HPO Feb 17, 2009
OMIM:141300 HEMIFACIAL ATROPHY, PROGRESSIVE HP:0008551 Microtia TAS TAS OMIM:141300 HPO:skoehler Feb 17, 2009
-OMIM:141300 %141300 HEMIFACIAL ATROPHY, PROGRESSIVE; HFA;;PARRY-ROMBERG SYNDROME HP:0100661 Trigeminal neuralgia TAS TAS OMIM:141300 HPO:skoehler Oct 17, 2012
+OMIM:141300 %141300 HEMIFACIAL ATROPHY, PROGRESSIVE; HFA;;PARRY-ROMBERG SYNDROME HP:0100661 Trigeminal neuralgia TAS TAS OMIM:141300 HPO:skoehler Oct 17, 2012
+OMIM:141300 %141300 HEMIFACIAL ATROPHY, PROGRESSIVE; HFA;;PARRY-ROMBERG SYNDROME HP:0011331 Hemifacial atrophy TAS TAS Disease name contained:yndrome|progressive hemifacial atrophy|http://www.orpha.ne OMIM:141300 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-157151.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-157151.tab 2015-01-26 19:45:23 UTC (rev 5278)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-157151.tab 2015-01-26 20:38:21 UTC (rev 5279)
@@ -9,4 +9,6 @@
OMIM:157151 MICROSPHEROPHAKIA-METAPHYSEAL DYSPLASIA HP:0005752 Flattened moderately deformed vertebrae IEA IEA OMIM:157151 HPO Feb 17, 2009
OMIM:157151 157151 MICROSPHEROPHAKIA-METAPHYSEAL DYSPLASIA HP:0100719 Lens coloboma TAS TAS OMIM:157151 HPO:skoehler Oct 17, 2012
OMIM:157151 MICROSPHEROPHAKIA-METAPHYSEAL DYSPLASIA HP:0010582 Irregular epiphyses TAS TAS OMIM:157151 HPO:probinson Apr 14, 2013
-OMIM:157151 MICROSPHEROPHAKIA-METAPHYSEAL DYSPLASIA HP:0001510 Growth delay TAS TAS OMIM:157151 HPO:probinson Apr 14, 2013
+OMIM:157151 MICROSPHEROPHAKIA-METAPHYSEAL DYSPLASIA HP:0001510 Growth delay TAS TAS OMIM:157151 HPO:probinson Apr 14, 2013
+OMIM:157151 MICROSPHEROPHAKIA-METAPHYSEAL DYSPLASIA HP:0100255 Metaphyseal dysplasia TAS TAS Disease name contained:microspherophakia - metaphyseal dysplasia|verloes-van malderg OMIM:157151 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-170390.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-170390.tab 2015-01-26 19:45:23 UTC (rev 5278)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-170390.tab 2015-01-26 20:38:21 UTC (rev 5279)
@@ -46,3 +46,5 @@
OMIM:170390 #170390 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS;;ANDERSEN SYNDROME;;LONG QT SYNDROME 7; LQT7;;PERIODIC PARALYSIS, POTASSIUM-SENSITIVE CARDIODYSRHYTHMIC TYPE;;ANDERSEN-TAWIL SYNDROME; ATS HP:0200086 Thin upper lip IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > THIN UPPER LIP OMIM:170390 HPO:skoehler 04.06.2013
OMIM:170390 #170390 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS;;ANDERSEN SYNDROME;;LONG QT SYNDROME 7; LQT7;;PERIODIC PARALYSIS, POTASSIUM-SENSITIVE CARDIODYSRHYTHMIC TYPE;;ANDERSEN-TAWIL SYNDROME; ATS HP:0012745 Short palpebral fissure IEA IEA OMIM-CS:HEAD AND NECK_EYES > SHORT PALPEBRAL FISSURES OMIM:170390 HPO:skoehler 24.03.2014
OMIM:170390 #170390 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS;;ANDERSEN SYNDROME;;LONG QT SYNDROME 7; LQT7;;ANDERSEN-TAWIL SYNDROME; ATS;;PERIODIC PARALYSIS, POTASSIUM-SENSITIVE CARDIODYSRHYTHMIC TYPE HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY OMIM:170390 HPO:skoehler 26.11.2014
+OMIM:170390 #170390 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS;;ANDERSEN SYNDROME;;LONG QT SYNDROME 7; LQT7;;ANDERSEN-TAWIL SYNDROME; ATS;;PERIODIC PARALYSIS, POTASSIUM-SENSITIVE CARDIODYSRHYTHMIC TYPE HP:0001657 Prolonged QT interval TAS TAS Disease name contained:;andersen syndrome;;long qt syndrome 7; lqt7;;andersen-t OMIM:170390 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-176500.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-176500.tab 2015-01-26 19:45:23 UTC (rev 5278)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-176500.tab 2015-01-26 20:38:21 UTC (rev 5279)
@@ -5,4 +5,6 @@
OMIM:176500 DEMENTIA, FAMILIAL BRITISH HP:0001337 Tremor IEA IEA OMIM:176500 HPO:skoehler Jun 20, 2010
OMIM:176500 DEMENTIA, FAMILIAL BRITISH HP:0002063 Rigidity TAS TAS OMIM:176500 HPO:skoehler Feb 17, 2009
OMIM:176500 DEMENTIA, FAMILIAL BRITISH HP:0002344 Progressive neurologic deterioration IEA IEA OMIM:176500 HPO Feb 17, 2009
-OMIM:176500 #176500 CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1;;DEMENTIA, FAMILIAL BRITISH; FBD;;PRESENILE DEMENTIA WITH SPASTIC ATAXIA;;CEREBRAL AMYLOID ANGIOPATHY, BRITISH TYPE HP:0001257 Spasticity TAS TAS OMIM:176500 HPO:skoehler Oct 17, 2012
+OMIM:176500 #176500 CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1;;DEMENTIA, FAMILIAL BRITISH; FBD;;PRESENILE DEMENTIA WITH SPASTIC ATAXIA;;CEREBRAL AMYLOID ANGIOPATHY, BRITISH TYPE HP:0001257 Spasticity TAS TAS OMIM:176500 HPO:skoehler Oct 17, 2012
+OMIM:176500 #176500 CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1;;DEMENTIA, FAMILIAL BRITISH; FBD;;PRESENILE DEMENTIA WITH SPASTIC ATAXIA;;CEREBRAL AMYLOID ANGIOPATHY, BRITISH TYPE HP:0011970 Cerebral amyloid angiopathy TAS TAS Disease name contained:ith spastic ataxia;;cerebral amyloid angiopathy, british type OMIM:176500 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-189800.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-189800.tab 2015-01-26 19:45:23 UTC (rev 5278)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-189800.tab 2015-01-26 20:38:21 UTC (rev 5279)
@@ -8,3 +8,6 @@
OMIM:189800 PREECLAMPSIA/ECLAMPSIA 1 HP:0001873 Thrombocytopenia IEA IEA OMIM:189800 HPO 17.02.2009
OMIM:189800 PREECLAMPSIA/ECLAMPSIA 1 HP:0002910 Elevated hepatic transaminases IEA IEA OMIM:189800 HPO 17.02.2009
OMIM:189800 PREECLAMPSIA/ECLAMPSIA 1 HP:0008071 Maternal hypertension IEA IEA OMIM:189800 HPO 17.02.2009
+OMIM:189800 PREECLAMPSIA/ECLAMPSIA 1 HP:0100602 Preeclampsia TAS TAS Disease name contained:preeclampsia/eclampsia 1 OMIM:189800 HPO:skoehler 21.01.2015
+OMIM:189800 PREECLAMPSIA/ECLAMPSIA 1 HP:0100601 Eclampsia TAS TAS Disease name contained:preeclampsia/eclampsia 1 OMIM:189800 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-217800.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-217800.tab 2015-01-26 19:45:23 UTC (rev 5278)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-217800.tab 2015-01-26 20:38:21 UTC (rev 5279)
@@ -6,3 +6,5 @@
OMIM:217800 MACULAR DYSTROPHY, CORNEAL, 1 HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:217800 HPO 17.02.2009
OMIM:217800 MACULAR DYSTROPHY, CORNEAL, 1 HP:0003621 Juvenile onset IEA IEA OMIM:217800 HPO 17.02.2009
OMIM:217800 MACULAR DYSTROPHY, CORNEAL, 1 HP:0007856 Punctate opacification of the cornea IEA IEA OMIM:217800 HPO 17.02.2009
+OMIM:217800 MACULAR DYSTROPHY, CORNEAL, 1 HP:0007754 Macular dystrophy TAS TAS Disease name contained:macular dystrophy, corneal, 1 OMIM:217800 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-254190.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-254190.tab 2015-01-26 19:45:23 UTC (rev 5278)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-254190.tab 2015-01-26 20:38:21 UTC (rev 5279)
@@ -4,3 +4,5 @@
OMIM:254190 MYASTHENIA, CONGENITAL, REFRACTORY TO ACETYLCHOLINESTERASE INHIBITORS HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:254190 HPO 17.02.2009
OMIM:254190 MYASTHENIA, CONGENITAL, REFRACTORY TO ACETYLCHOLINESTERASE INHIBITORS HP:0003701 Proximal muscle weakness IEA IEA OMIM:254190 HPO:skoehler 20.06.2010
OMIM:254190 MYASTHENIA, CONGENITAL, REFRACTORY TO ACETYLCHOLINESTERASE INHIBITORS HP:0007970 Congenital ptosis IEA IEA OMIM:254190 HPO 17.02.2009
+OMIM:254190 MYASTHENIA, CONGENITAL, REFRACTORY TO ACETYLCHOLINESTERASE INHIBITORS HP:0003473 Fatigable weakness TAS TAS Disease name contained:myasthenia, congenital, refrac OMIM:254190 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-268020.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-268020.tab 2015-01-26 19:45:23 UTC (rev 5278)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-268020.tab 2015-01-26 20:38:21 UTC (rev 5279)
@@ -21,3 +21,5 @@
MIM:268020 RETINITIS PIGMENTOSA, DEAFNESS, MENTAL RETARDATION, AND HYPOGONADISM HP:0008070 Sparse hair IEA IEA 17.02.2009
MIM:268020 RETINITIS PIGMENTOSA, DEAFNESS, MENTAL RETARDATION, AND HYPOGONADISM HP:0004322 Short stature PCS PCS MIM:268020 HPO:probinson 18.03.2012
MIM:268020 RETINITIS PIGMENTOSA, DEAFNESS, MENTAL RETARDATION, AND HYPOGONADISM HP:0002910 Elevated transaminases PCS PCS Mild MIM:268020 HPO:probinson 18.03.2012
+OMIM:268020 RETINITIS PIGMENTOSA, DEAFNESS, MENTAL RETARDATION, AND HYPOGONADISM HP:0000510 Retinitis pigmentosa TAS TAS Disease name contained:retinitis pigmentosa, deafness, mental r OMIM:268020 HPO:skoehler 21.01.2015
+
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300263.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300263.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300263.tab 2015-01-26 20:38:21 UTC (rev 5279)
@@ -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:300263 X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE HP:0001249 Intellectual disability TAS TAS Disease name contained:x-linked intellectual disability, siderius typehttp: OMIM:300263 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-312920.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-312920.tab 2015-01-26 19:45:23 UTC (rev 5278)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-312920.tab 2015-01-26 20:38:21 UTC (rev 5279)
@@ -17,4 +17,6 @@
OMIM:312920 SPASTIC PARAPLEGIA 2, X-LINKED HP:0003487 Babinski sign IEA IEA OMIM:312920 HPO Feb 17, 2009
OMIM:312920 SPASTIC PARAPLEGIA 2, X-LINKED HP:0003621 Juvenile onset IEA IEA OMIM:312920 HPO Feb 17, 2009
OMIM:312920 SPASTIC PARAPLEGIA 2, X-LINKED HP:0003812 Phenotypic variability IEA IEA OMIM:312920 HPO Feb 17, 2009
-OMIM:312920 SPASTIC PARAPLEGIA 2, X-LINKED HP:0007340 Lower limb muscle weakness IEA IEA OMIM:312920 HPO Feb 17, 2009
+OMIM:312920 SPASTIC PARAPLEGIA 2, X-LINKED HP:0007340 Lower limb muscle weakness IEA IEA OMIM:312920 HPO Feb 17, 2009
+OMIM:312920 SPASTIC PARAPLEGIA 2, X-LINKED HP:0002313 Spastic paraparesis TAS TAS Disease name contained:spastic gait type 2|spastic paraparesis type 2|spastic para OMIM:312920 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600334.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600334.tab 2015-01-26 19:45:23 UTC (rev 5278)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600334.tab 2015-01-26 20:38:21 UTC (rev 5279)
@@ -6,4 +6,6 @@
OMIM:600334 TIBIAL MUSCULAR DYSTROPHY, TARDIVE HP:0003677 Slow progression TAS TAS OMIM:600334 HPO:skoehler Feb 17, 2009
OMIM:600334 TIBIAL MUSCULAR DYSTROPHY, TARDIVE HP:0003805 Rimmed vacuoles TAS TAS OMIM:600334 HPO:skoehler Feb 17, 2009
OMIM:600334 TIBIAL MUSCULAR DYSTROPHY, TARDIVE HP:0003829 Incomplete penetrance IEA IEA OMIM:600334 HPO Feb 17, 2009
-OMIM:600334 TIBIAL MUSCULAR DYSTROPHY, TARDIVE HP:0001638 Cardiomyopathy IEA IEA NOT NOT OMIM:600334 HPO:skoehler Jun 20, 2010
+OMIM:600334 TIBIAL MUSCULAR DYSTROPHY, TARDIVE HP:0001638 Cardiomyopathy IEA IEA NOT NOT OMIM:600334 HPO:skoehler Jun 20, 2010
+OMIM:600334 TIBIAL MUSCULAR DYSTROPHY, TARDIVE HP:0003560 Muscular dystrophy TAS TAS Disease name contained:tibial muscular dystrophy, tardive OMIM:600334 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601414.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601414.tab 2015-01-26 19:45:23 UTC (rev 5278)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601414.tab 2015-01-26 20:38:21 UTC (rev 5279)
@@ -4,3 +4,5 @@
OMIM:601414 RETINITIS PIGMENTOSA 18 HP:0000662 Night blindness IEA IEA OMIM:601414 HPO 17.02.2009
OMIM:601414 RETINITIS PIGMENTOSA 18 HP:0007987 Progressive visual field defects IEA IEA OMIM:601414 HPO 17.02.2009
OMIM:601414 RETINITIS PIGMENTOSA 18 HP:0008043 Retinal arteriolar constriction IEA IEA OMIM:601414 HPO 17.02.2009
+OMIM:601414 RETINITIS PIGMENTOSA 18 HP:0000510 Retinitis pigmentosa TAS TAS Disease name contained:retinitis pigmentosa 18 OMIM:601414 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601634.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601634.tab 2015-01-26 19:45:23 UTC (rev 5278)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601634.tab 2015-01-26 20:38:21 UTC (rev 5279)
@@ -1,2 +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:601634 NEURAL TUBE DEFECTS, FOLATE-SENSITIVE HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:601634 HPO 17.02.2009
+OMIM:601634 NEURAL TUBE DEFECTS, FOLATE-SENSITIVE HP:0010301 Spinal dysraphism TAS TAS Disease name contained:neural tube defects, folate-sensitive OMIM:601634 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607475.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607475.tab 2015-01-26 19:45:23 UTC (rev 5278)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607475.tab 2015-01-26 20:38:21 UTC (rev 5279)
@@ -2,4 +2,6 @@
OMIM:607475 BOTHNIA RETINAL DYSTROPHY HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:607475 HPO Feb 17, 2009
OMIM:607475 BOTHNIA RETINAL DYSTROPHY HP:0000512 Abnormal electroretinogram IEA IEA OMIM:607475 HPO Feb 17, 2009
OMIM:607475 BOTHNIA RETINAL DYSTROPHY HP:0000608 Macular degeneration IEA IEA OMIM:607475 HPO Feb 17, 2009
-OMIM:607475 BOTHNIA RETINAL DYSTROPHY HP:0000662 Night blindness TAS TAS OMIM:607475 HPO:skoehler Feb 17, 2009
+OMIM:607475 BOTHNIA RETINAL DYSTROPHY HP:0000662 Night blindness TAS TAS OMIM:607475 HPO:skoehler Feb 17, 2009
+OMIM:607475 BOTHNIA RETINAL DYSTROPHY HP:0000556 Retinal dystrophy TAS TAS Disease name contained:bothnia retinal dystrophy OMIM:607475 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608380.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608380.tab 2015-01-26 19:45:23 UTC (rev 5278)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608380.tab 2015-01-26 20:38:21 UTC (rev 5279)
@@ -4,4 +4,6 @@
OMIM:608380 #608380 RETINITIS PIGMENTOSA 26; RP26 CERKL HP:0000505 Visual impairment PCS PCS pmid:14681825 HPO:probinson Mar 24, 2013
OMIM:608380 #608380 RETINITIS PIGMENTOSA 26; RP26 CERKL HP:0007843 Attenuation of retinal blood vessels PCS PCS pmid:14681825 HPO:probinson Mar 24, 2013
OMIM:608380 #608380 RETINITIS PIGMENTOSA 26; RP26 CERKL HP:0007688 Absent rod-and cone-mediated responses on ERG PCS PCS pmid:14681825 HPO:probinson Mar 24, 2013
-OMIM:608380 #608380 RETINITIS PIGMENTOSA 26; RP26 CERKL HP:0001133 Constricted visual fields PCS PCS pmid:14681825 HPO:probinson Mar 24, 2013
+OMIM:608380 #608380 RETINITIS PIGMENTOSA 26; RP26 CERKL HP:0001133 Constricted visual fields PCS PCS pmid:14681825 HPO:probinson Mar 24, 2013
+OMIM:608380 #608380 RETINITIS PIGMENTOSA 26; RP26 HP:0000510 Retinitis pigmentosa TAS TAS Disease name contained:#608380 retinitis pigmentosa 26; rp26 OMIM:608380 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610217.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610217.tab 2015-01-26 19:45:23 UTC (rev 5278)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610217.tab 2015-01-26 20:38:21 UTC (rev 5279)
@@ -29,3 +29,5 @@
OMIM:610217 #610217 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; NBIA2B;;NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED;;NEUROAXONAL DYSTROPHY, ATYPICALKARAK SYNDROME, INCLUDED HP:0011968 Feeding difficulties IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > FEEDING DIFFICULTIES OMIM:610217 HPO:skoehler 17.10.2012
OMIM:610217 #610217 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; NBIA2B;;NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED;;NEUROAXONAL DYSTROPHY, ATYPICALKARAK SYNDROME, INCLUDED HP:0100710 Impulsivity IEA IEA OMIM-CS:NEUROLOGIC_BEHAVIORAL/PSYCHIATRIC MANIFESTATIONS > IMPULSIVITY OMIM:610217 HPO:skoehler 17.10.2012
OMIM:610217 #610217 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; NBIA2B;;NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED;;NEUROAXONAL DYSTROPHY, ATYPICALKARAK SYNDROME, INCLUDED HP:0001257 Spasticity IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SPASTICITY OMIM:610217 HPO:skoehler 17.10.2012
+OMIM:610217 #610217 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; NBIA2B;;NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED;;NEUROAXONAL DYSTROPHY, ATYPICALKARAK SYNDROME, INCLUDED HP:0002180 Neurodegeneration TAS TAS Disease name contained:ulation 2b; nbia2b;;neurodegeneration with brain iron acc OMIM:610217 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611105.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611105.tab 2015-01-26 19:45:23 UTC (rev 5278)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611105.tab 2015-01-26 20:38:21 UTC (rev 5279)
@@ -15,3 +15,5 @@
OMIM:611105 #611105 LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT ANDLACTATE ELEVATION; LBSL;;MITOCHONDRIAL ASPARTYL-tRNA SYNTHETASE DEFICIENCY HP:0003477 Peripheral axonal neuropathy IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > PERIPHERAL AXONAL NEUROPATHY OMIM:611105 HPO:skoehler 17.10.2012
OMIM:611105 #611105 LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT ANDLACTATE ELEVATION; LBSL;;MITOCHONDRIAL ASPARTYL-tRNA SYNTHETASE DEFICIENCY HP:0001260 Dysarthria IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DYSARTHRIA (LESS COMMON) OMIM:611105 HPO:skoehler 18.11.2012
OMIM:611105 #611105 LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT ANDLACTATE ELEVATION; LBSL;;MITOCHONDRIAL ASPARTYL-tRNA SYNTHETASE DEFICIENCY HP:0100543 Cognitive impairment IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > COGNITIVE DEFICITS (LESS COMMON) OMIM:611105 HPO:skoehler 04.04.2014
+OMIM:611105 #611105 LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT ANDLACTATE ELEVATION; LBSL;;MITOCHONDRIAL ASPARTYL-TRNA SYNTHETASE DEFICIENCY HP:0002352 Leukoencephalopathy TAS TAS Disease name contained:#611105 leukoencephalopathy with brainstem and OMIM:611105 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611773.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611773.tab 2015-01-26 19:45:23 UTC (rev 5278)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611773.tab 2015-01-26 20:38:21 UTC (rev 5279)
@@ -10,4 +10,6 @@
OMIM:611773 #611773 ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS;HANAC HP:0002617 Aneurysm IEA IEA OMIM-CS:CARDIOVASCULAR_VASCULAR > ANEURYSMS OF RIGHT INTERNAL CAROTID ARTERY, INTRACRANIAL SEGMENT OMIM:611773 HPO:skoehler Nov 21, 2012
OMIM:611773 #611773 ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS;HANAC HP:0000790 Hematuria IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > HEMATURIA, MICROSCOPIC OMIM:611773 HPO:skoehler Nov 21, 2012
OMIM:611773 #611773 ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS;HANAC HP:0000083 Renal insufficiency IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > RENAL FAILURE, MILD OMIM:611773 HPO:skoehler Nov 21, 2012
-OMIM:611773 #611773 ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS;HANAC HP:0002352 Leukoencephalopathy IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > LEUKOENCEPHALOPATHY, PERIVENTRICULAR OMIM:611773 HPO:skoehler Nov 21, 2012
+OMIM:611773 #611773 ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS;HANAC HP:0002352 Leukoencephalopathy IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > LEUKOENCEPHALOPATHY, PERIVENTRICULAR OMIM:611773 HPO:skoehler Nov 21, 2012
+OMIM:611773 #611773 ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS;HANAC HP:0000112 Nephropathy TAS TAS Disease name contained:y, hereditary, with nephropathy, aneurysms, and mus OMIM:611773 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612095.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612095.tab 2015-01-26 19:45:23 UTC (rev 5278)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612095.tab 2015-01-26 20:38:21 UTC (rev 5279)
@@ -3,3 +3,5 @@
OMIM:612095 RETINITIS PIGMENTOSA 41; RP41 HP:0000550 Abolished electroretinogram (ERG) IEA IEA OMIM:612095 HPO:skoehler 20.06.2010
OMIM:612095 RETINITIS PIGMENTOSA 41; RP41 HP:0000608 Macular degeneration IEA IEA OMIM:612095 HPO:skoehler 19.06.2010
OMIM:612095 RETINITIS PIGMENTOSA 41; RP41 HP:0000662 Night blindness IEA IEA OMIM:612095 HPO:skoehler 19.06.2010
+OMIM:612095 RETINITIS PIGMENTOSA 41; RP41 HP:0000510 Retinitis pigmentosa TAS TAS Disease name contained:retinitis pigmentosa 41; rp41 OMIM:612095 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613285.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613285.tab 2015-01-26 19:45:23 UTC (rev 5278)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613285.tab 2015-01-26 20:38:21 UTC (rev 5279)
@@ -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:613285 #613285 DEAFNESS, AUTOSOMAL RECESSIVE 25; DFNB25 HP:0000364 Hearing abnormality IEA IEA OMIM:613285 HPO:skoehler Jan 9, 2013
-OMIM:613285 #613285 DEAFNESS, AUTOSOMAL RECESSIVE 25; DFNB25 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:613285 HPO:skoehler Jan 10, 2013
+OMIM:613285 #613285 DEAFNESS, AUTOSOMAL RECESSIVE 25; DFNB25 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:613285 HPO:skoehler Jan 10, 2013
+OMIM:613285 #613285 DEAFNESS, AUTOSOMAL RECESSIVE 25; DFNB25 HP:0000365 Hearing impairment TAS TAS Disease name contained:#613285 deafness, autosomal recessiv OMIM:613285 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613744.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613744.tab 2015-01-26 19:45:23 UTC (rev 5278)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613744.tab 2015-01-26 20:38:21 UTC (rev 5279)
@@ -30,3 +30,5 @@
OMIM:613744 #613744 SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE; SPG51;;CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 4, FORMERLY; CPSQ4, FORMERLY HP:0000307 Pointed chin IEA IEA OMIM-CS:HEAD AND NECK_FACE > PROMINENT POINTED CHIN OMIM:613744 HPO:skoehler 22.01.2013
OMIM:613744 #613744 SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE; SPG51;;CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 4, FORMERLY; CPSQ4, FORMERLY HP:0003199 Decreased muscle mass IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > DECREASED MUSCLE MASS IN THE THIGHS OMIM:613744 HPO:skoehler 22.01.2013
OMIM:613744 #613744 SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE; SPG51;;CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 4, FORMERLY; CPSQ4, FORMERLY HP:0001319 Neonatal hypotonia IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > HYPOTONIA, NEONATAL AND LATER OMIM:613744 HPO:skoehler 22.01.2013
+OMIM:613744 #613744 SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE; SPG51;;CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 4, FORMERLY; CPSQ4, FORMERLY HP:0001258 Spastic paraplegia TAS TAS Disease name contained:#613744 spastic paraplegia 51, autosomal reces OMIM:613744 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614376.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614376.tab 2015-01-26 19:45:23 UTC (rev 5278)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614376.tab 2015-01-26 20:38:21 UTC (rev 5279)
@@ -18,3 +18,5 @@
OMIM:614376 #614376 ASPHYXIATING THORACIC DYSTROPHY 5; ATD5 HP:0200086 Thin upper lip IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > THIN UPPER LIP OMIM:614376 HPO:skoehler 04.06.2013
OMIM:614376 #614376 SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5;;ASPHYXIATING THORACIC DYSTROPHY 5; ATD5 HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY OMIM:614376 HPO:skoehler 26.11.2014
OMIM:614376 #614376 SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5;;ASPHYXIATING THORACIC DYSTROPHY 5; ATD5 HP:0008905 Rhizomelia IEA IEA OMIM-CS:SKELETAL_LIMBS > RHIZOMELIC SHORTENING OMIM:614376 HPO:skoehler 26.11.2014
+OMIM:614376 #614376 SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5;;ASPHYXIATING THORACIC DYSTROPHY 5; ATD5 HP:0006644 Thoracic dysplasia TAS TAS Disease name contained:#614376 short-rib thoracic dysplasia 5 with or without p OMIM:614376 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614945.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614945.tab 2015-01-26 19:45:23 UTC (rev 5278)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614945.tab 2015-01-26 20:38:21 UTC (rev 5279)
@@ -1,2 +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:614945 #614945 DEAFNESS, AUTOSOMAL RECESSIVE 18B; DFNB18B HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:614945 HPO:skoehler 02.12.2012
+OMIM:614945 #614945 DEAFNESS, AUTOSOMAL RECESSIVE 18B; DFNB18B HP:0000365 Hearing impairment TAS TAS Disease name contained:#614945 deafness, autosomal recessiv OMIM:614945 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615439.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615439.tab 2015-01-26 19:45:23 UTC (rev 5278)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615439.tab 2015-01-26 20:38:21 UTC (rev 5279)
@@ -1,2 +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:615439 #615439 MACULAR DEGENERATION, AGE-RELATED, 13; ARMD13 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT OMIM:615439 HPO:skoehler 22.10.2013
+OMIM:615439 #615439 MACULAR DEGENERATION, AGE-RELATED, 13; ARMD13 HP:0000608 Macular degeneration TAS TAS Disease name contained:#615439 macular degeneration, age-related, 13; a OMIM:615439 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615630.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615630.tab 2015-01-26 19:45:23 UTC (rev 5278)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615630.tab 2015-01-26 20:38:21 UTC (rev 5279)
@@ -27,3 +27,5 @@
OMIM:615630 #615630 SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY; SRTD10 HP:0002857 Genu valgum IEA IEA rare OMIM-CS:SKELETAL_LIMBS > GENU VALGUM (RARE) OMIM:615630 HPO:skoehler 25.02.2014
OMIM:615630 #615630 SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY; SRTD10 HP:0003026 Short long bones IEA IEA OMIM-CS:SKELETAL_LIMBS > SHORT LONG BONES OMIM:615630 HPO:skoehler 25.02.2014
OMIM:615630 #615630 SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY; SRTD10 HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY OMIM:615630 HPO:skoehler 26.11.2014
+OMIM:615630 #615630 SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY; SRTD10 HP:0006644 Thoracic dysplasia TAS TAS Disease name contained:#615630 short-rib thoracic dysplasia 10 with or without OMIM:615630 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615723.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615723.tab 2015-01-26 19:45:23 UTC (rev 5278)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615723.tab 2015-01-26 20:38:21 UTC (rev 5279)
@@ -2,3 +2,5 @@
OMIM:615723 #615723 PREMATURE OVARIAN FAILURE 8; POF8 HP:0000837 Gonadotropin excess IEA IEA OMIM-CS:ENDOCRINE FEATURES > ELEVATED SERUM GONADOTROPINS OMIM:615723 HPO:skoehler 04.05.2014
OMIM:615723 #615723 PREMATURE OVARIAN FAILURE 8; POF8 HP:0000786 Primary amenorrhea IEA IEA OMIM-CS:GENITOURINARY_INTERNAL GENITALIA, FEMALE > PRIMARY AMENORRHEA OMIM:615723 HPO:skoehler 04.05.2014
OMIM:615723 #615723 PREMATURE OVARIAN FAILURE 8; POF8 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:615723 HPO:skoehler 04.05.2014
+OMIM:615723 #615723 PREMATURE OVARIAN FAILURE 8; POF8 HP:0008209 Premature ovarian failure TAS TAS Disease name contained:#615723 premature ovarian failure 8; pof8 OMIM:615723 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616118.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616118.tab 2015-01-26 19:45:23 UTC (rev 5278)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616118.tab 2015-01-26 20:38:21 UTC (rev 5279)
@@ -1,2 +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:616118 #616118 MACULAR DEGENERATION, EARLY-ONSET; EOMD HP:0000505 Visual impairment IEA IEA OMIM-CS:HEAD AND NECK_EYES > DECREASED VISUAL ACUITY OMIM:616118 HPO:skoehler 04.01.2015
+OMIM:616118 #616118 MACULAR DEGENERATION, EARLY-ONSET; EOMD HP:0000608 Macular degeneration TAS TAS Disease name contained:#616118 macular degeneration, early-onset; eomd OMIM:616118 HPO:skoehler 21.01.2015
+
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <koe...@us...> - 2015-01-26 19:45:30
|
Revision: 5278
http://sourceforge.net/p/obo/svn/5278
Author: koehlers
Date: 2015-01-26 19:45:23 +0000 (Mon, 26 Jan 2015)
Log Message:
-----------
more manual annotation additions
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-115660.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-145701.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-153880.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-158580.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-165800.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-173600.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-181700.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-208150.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-222700.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300373.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300475.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300695.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-301830.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-550500.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604286.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606851.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609165.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612551.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612576.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612847.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612936.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614091.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614279.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614296.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614414.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615031.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615432.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-115660.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-115660.tab 2015-01-26 13:58:45 UTC (rev 5277)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-115660.tab 2015-01-26 19:45:23 UTC (rev 5278)
@@ -1,3 +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:115660 CATARACT, CONGENITAL, CERULEAN TYPE, 1 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:115660 HPO 17.02.2009
OMIM:115660 CATARACT, CONGENITAL, CERULEAN TYPE, 1 HP:0000572 Visual loss IEA IEA OMIM:115660 HPO:skoehler 20.06.2010
+OMIM:115660 CATARACT, CONGENITAL, CERULEAN TYPE, 1 HP:0000519 Congenital cataract TAS TAS Disease name contained:cataract, congenital, cerulean type, 1 OMIM:115660 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-145701.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-145701.tab 2015-01-26 13:58:45 UTC (rev 5277)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-145701.tab 2015-01-26 19:45:23 UTC (rev 5278)
@@ -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:145701 HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:145701 HPO 17.02.2009
-OMIM:145701 HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE HP:0004554 Generalized hypertrichosis IEA IEA OMIM:145701 HPO 17.02.2009
+OMIM:145701 HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE HP:0004540 Congenital, generalized hypertrichosis TAS TAS Disease name contained:hypertrichosis universalis congenita, ambras t OMIM:145701 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-153880.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-153880.tab 2015-01-26 13:58:45 UTC (rev 5277)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-153880.tab 2015-01-26 19:45:23 UTC (rev 5278)
@@ -6,3 +6,5 @@
OMIM:153880 MACULAR EDEMA, CYSTOID HP:0007947 Pericentral retinitis pigmentosa IEA IEA OMIM:153880 HPO 17.02.2009
OMIM:153880 %153880 MACULAR EDEMA, CYSTOID;;CYSTOID MACULAR DYSTROPHY; CYMD;;MACULAR DYSTROPHY, DOMINANT CYSTOID; MDDC;;DCMD HP:0011505 Cystoid macular edema IEA IEA OMIM-CS:EYES > CYSTOID MACULAR EDEMA OMIM:153880 HPO:skoehler 17.10.2012
OMIM:153880 %153880 MACULAR EDEMA, CYSTOID;;CYSTOID MACULAR DYSTROPHY; CYMD;;MACULAR DYSTROPHY, DOMINANT CYSTOID; MDDC;;DCMD HP:0000512 Abnormal electroretinogram IEA IEA NOT NOT OMIM-CS:RADIOLOGY > NORMAL ELECTRORETINOGRAM OMIM:153880 HPO:skoehler 27.11.2014
+OMIM:153880 %153880 MACULAR EDEMA, CYSTOID;;CYSTOID MACULAR DYSTROPHY; CYMD;;MACULAR DYSTROPHY, DOMINANT CYSTOID; MDDC;;DCMD HP:0007754 Macular dystrophy TAS TAS Disease name contained:ar dystrophy; cymd;;macular dystrophy, dominant cystoid; OMIM:153880 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-158580.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-158580.tab 2015-01-26 13:58:45 UTC (rev 5277)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-158580.tab 2015-01-26 19:45:23 UTC (rev 5278)
@@ -10,3 +10,7 @@
OMIM:158580 #158580 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA; HMN7A;;HMN VIIA;;NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA;;DHMN7A;;DHMNVP;;SPINAL MUSCULAR ATROPHY, DISTAL, WITH VOCAL CORD PARALYSIS;;HARPER-YOUNG MYOPATHY HP:0001337 Tremor TAS TAS rare OMIM:158580 HPO:skoehler Jun 5, 2013
OMIM:158580 #158580 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA; HMN7A;;HMN VIIA;;NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA;;DHMN7A;;DHMNVP;;SPINAL MUSCULAR ATROPHY, DISTAL, WITH VOCAL CORD PARALYSIS;;HARPER-YOUNG MYOPATHY HP:0001761 Pes cavus TAS TAS OMIM:158580 HPO:skoehler Jun 5, 2013
OMIM:158580 #158580 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA; HMN7A;;HMN VIIA;;NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA;;DHMN7A;;DHMNVP;;SPINAL MUSCULAR ATROPHY, DISTAL, WITH VOCAL CORD PARALYSIS;;HARPER-YOUNG MYOPATHY HP:0040131 Abnormal motor nerve conduction velocity IEA IEA NOT NOT OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > NORMAL MOTOR NERVE CONDUCTION VELOCITY OMIM:158580 HPO:skoehler 04.01.2015
+OMIM:158580 #158580 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA; HMN7A;;HMN VIIA;;NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA;;DHMN7A;;DHMNVP;;SPINAL MUSCULAR ATROPHY, DISTAL, WITH VOCAL CORD PARALYSIS;;HARPER-YOUNG MYOPATHY HP:0009830 Peripheral neuropathy TAS TAS Disease name contained:a; hmn7a;;hmn viia;;neuropathy, distal hereditary OMIM:158580 HPO:skoehler 21.01.2015
+OMIM:158580 #158580 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA; HMN7A;;HMN VIIA;;NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA;;DHMN7A;;DHMNVP;;SPINAL MUSCULAR ATROPHY, DISTAL, WITH VOCAL CORD PARALYSIS;;HARPER-YOUNG MYOPATHY HP:0001605 Vocal cord paralysis TAS TAS Disease name contained:rophy, distal, with vocal cord paralysis;;harper-young myopa OMIM:158580 HPO:skoehler 21.01.2015
+
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-165800.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-165800.tab 2015-01-26 13:58:45 UTC (rev 5277)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-165800.tab 2015-01-26 19:45:23 UTC (rev 5278)
@@ -5,3 +5,7 @@
OMIM:165800 #165800 OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS;OD HP:0002515 Waddling gait IEA IEA OMIM-CS:MISCELLANEOUS > WADDLING GAIT OMIM:165800 HPO:skoehler 17.10.2012
OMIM:165800 #165800 OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS;OD HP:0100777 Exostoses IEA IEA OMIM-CS:SKELETAL > EXOSTOSES OMIM:165800 HPO:skoehler 17.10.2012
OMIM:165800 #165800 OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS;OD HP:0002758 Osteoarthritis IEA IEA OMIM-CS:SKELETAL > OSTEOARTHRITIS OMIM:165800 HPO:skoehler 17.10.2012
+OMIM:165800 #165800 OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS;OD HP:0010886 Osteochondrosis dissecans TAS TAS Disease name contained:#165800 osteochondritis dissecans, short stature, and OMIM:165800 HPO:skoehler 21.01.2015
+OMIM:165800 #165800 OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS;OD HP:0004322 Short stature TAS TAS Disease name contained:ondritis dissecans, short stature, and early-onset os OMIM:165800 HPO:skoehler 21.01.2015
+
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-173600.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-173600.tab 2015-01-26 13:58:45 UTC (rev 5277)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-173600.tab 2015-01-26 19:45:23 UTC (rev 5278)
@@ -1,4 +1,5 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
OMIM:173600 PNEUMOTHORAX, PRIMARY SPONTANEOUS HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:173600 HPO 17.02.2009
-OMIM:173600 PNEUMOTHORAX, PRIMARY SPONTANEOUS HP:0002107 Pneumothorax IEA IEA OMIM:173600 HPO 17.02.2009
OMIM:173600 PNEUMOTHORAX, PRIMARY SPONTANEOUS HP:0003829 Incomplete penetrance IEA IEA OMIM:173600 HPO 17.02.2009
+OMIM:173600 PNEUMOTHORAX, PRIMARY SPONTANEOUS HP:0002108 Spontaneous pneumothorax TAS TAS Disease name contained:spontaneousfamilial spontaneous pneumothorax|http://www.orpha.ne OMIM:173600 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-181700.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-181700.tab 2015-01-26 13:58:45 UTC (rev 5277)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-181700.tab 2015-01-26 19:45:23 UTC (rev 5278)
@@ -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:181700 SCLEROCORNEA, AUTOSOMAL DOMINANT HP:0000478 Abnormality of the eye IEA IEA OMIM:181700 HPO 17.02.2009
OMIM:181700 181700 SCLEROCORNEA, AUTOSOMAL DOMINANT HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT FORM OMIM:181700 HPO:skoehler 29.05.2013
+OMIM:181700 181700 SCLEROCORNEA, AUTOSOMAL DOMINANT HP:0000647 Sclerocornea TAS TAS Disease name contained:181700 sclerocornea, autosomal dominant OMIM:181700 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-208150.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-208150.tab 2015-01-26 13:58:45 UTC (rev 5277)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-208150.tab 2015-01-26 19:45:23 UTC (rev 5278)
@@ -39,3 +39,5 @@
MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0006266 Small placenta IEA IEA MIM:208150 HPO 25.07.2012
OMIM:208150 #208150 FETAL AKINESIA DEFORMATION SEQUENCE; FADS;;PENA-SHOKEIR SYNDROME, TYPE I;;FETAL AKINESIA SEQUENCE;;ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH PULMONARY HYPOPLASIA HP:0012745 Short palpebral fissure IEA IEA OMIM-CS:HEAD AND NECK_EYES > SHORT PALPEBRAL FISSURES OMIM:208150 HPO:skoehler 24.03.2014
OMIM:208150 #208150 FETAL AKINESIA DEFORMATION SEQUENCE; FADS;;PENA-SHOKEIR SYNDROME, TYPE I;;FETAL AKINESIA SEQUENCE;;ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH PULMONARY HYPOPLASIA HP:0002804 Arthrogryposis multiplex congenita IEA IEA Disease name contained:sequence;;arthrogryposis multiplex OMIM:208150 HPO:skoehler 19.01.2015
+OMIM:208150 #208150 FETAL AKINESIA DEFORMATION SEQUENCE; FADS;;PENA-SHOKEIR SYNDROME, TYPE I;;FETAL AKINESIA SEQUENCE;;ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH PULMONARY HYPOPLASIA HP:0001989 Fetal akinesia sequence TAS TAS Disease name contained:r syndrome, type i;;fetal akinesia sequence;;arthrogryposis mul OMIM:208150 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-222700.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-222700.tab 2015-01-26 13:58:45 UTC (rev 5277)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-222700.tab 2015-01-26 19:45:23 UTC (rev 5278)
@@ -32,3 +32,5 @@
OMIM:222700 #222700 LYSINURIC PROTEIN INTOLERANCE; LPI;;DIBASIC AMINO ACIDURIA II HP:0004395 Malnutrition TAS TAS OMIM:222700 HPO:skoehler Jan 22, 2013
OMIM:222700 #222700 LYSINURIC PROTEIN INTOLERANCE; LPI;;DIBASIC AMINO ACIDURIA II HP:0003812 Phenotypic variability IEA IEA OMIM-CS:MISCELLANEOUS > HIGHLY VARIABLE PHENOTYPE OMIM:222700 HPO:skoehler 18.04.2013
OMIM:222700 #222700 LYSINURIC PROTEIN INTOLERANCE; LPI;;DIBASIC AMINO ACIDURIA II HP:0006517 Alveolar proteinosis IEA IEA OMIM-CS:RESPIRATORY_LUNG > ALVEOLAR PROTEINOSIS OMIM:222700 HPO:skoehler 24.06.2014
+OMIM:222700 #222700 LYSINURIC PROTEIN INTOLERANCE; LPI;;DIBASIC AMINO ACIDURIA II HP:0003355 Aminoaciduria TAS TAS Disease name contained: lpi;;dibasic amino aciduria ii OMIM:222700 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300373.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300373.tab 2015-01-26 13:58:45 UTC (rev 5277)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300373.tab 2015-01-26 19:45:23 UTC (rev 5278)
@@ -67,3 +67,5 @@
OMIM:300373 #300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS;;HYPEROSTOSIS GENERALISATA WITH STRIATIONS HP:0012385 Camptodactyly IEA IEA OMIM-CS:SKELETAL_HANDS > CAMPTODACTYLY OMIM:300373 HPO:skoehler 04.05.2014
OMIM:300373 #300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS;;HYPEROSTOSIS GENERALISATA WITH STRIATIONS HP:0005464 Craniofacial osteosclerosis IEA IEA OMIM-CS:SKELETAL_SKULL > CRANIAL SCLEROSIS OMIM:300373 HPO:skoehler 04.05.2014
OMIM:300373 #300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS;;HYPEROSTOSIS GENERALISATA WITH STRIATIONS HP:0005950 Laryngeal web IEA IEA OMIM-CS:RESPIRATORY_LARYNX > LARYNGEAL WEB OMIM:300373 HPO:skoehler 24.06.2014
+OMIM:300373 #300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS;;HYPEROSTOSIS GENERALISATA WITH STRIATIONS HP:0010740 Osteopathia striata TAS TAS Disease name contained:ata with striations|osteopathia striata - cranial sclerosis OMIM:300373 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300475.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300475.tab 2015-01-26 13:58:45 UTC (rev 5277)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300475.tab 2015-01-26 19:45:23 UTC (rev 5278)
@@ -15,3 +15,5 @@
OMIM:300475 #300475 DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION; DDCHCONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME, INCLUDED; CADDS, INCLUDED HP:0002445 Tetraplegia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > QUADRIPLEGIA OMIM:300475 HPO:skoehler 18.11.2013
OMIM:300475 #300475 DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION; DDCHCONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME, INCLUDED; CADDS, INCLUDED HP:0001250 Seizures IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES (IN SOME PATIENTS) OMIM:300475 HPO:skoehler 18.11.2013
OMIM:300475 #300475 DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION; DDCHCONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME, INCLUDED; CADDS, INCLUDED HP:0007256 Abnormal pyramidal signs IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PYRAMIDAL SIGNS OMIM:300475 HPO:skoehler 04.01.2015
+OMIM:300475 #300475 DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION; DDCHCONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME, INCLUDED; CADDS, INCLUDED HP:0006808 Cerebral hypomyelination TAS TAS Disease name contained:ness, dystonia, and cerebral hypomyelination; ddchcontiguous abc OMIM:300475 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300695.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300695.tab 2015-01-26 13:58:45 UTC (rev 5277)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300695.tab 2015-01-26 19:45:23 UTC (rev 5278)
@@ -14,3 +14,5 @@
OMIM:300695 #300695 SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM;;SCAPULOPERONEAL MYOPATHY, FHL1-RELATED HP:0003715 Myofibrillar myopathy IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > MYOFIBRILLAR MYOPATHY OMIM:300695 HPO:skoehler 17.10.2012
OMIM:300695 #300695 SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM;;SCAPULOPERONEAL MYOPATHY, FHL1-RELATED HP:0001423 X-linked dominant inheritance IEA IEA OMIM-CS:INHERITANCE > X-LINKED DOMINANT OMIM:300695 HPO:skoehler 29.05.2013
OMIM:300695 #300695 SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM;;SCAPULOPERONEAL MYOPATHY, FHL1-RELATED HP:0003202 Amyotrophy IEA IEA MODIFIER:PROGRESSIVE;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WASTING, PROGRESSIVE OMIM:300695 HPO:skoehler 06.06.2013
+OMIM:300695 #300695 SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM;;SCAPULOPERONEAL MYOPATHY, FHL1-RELATED HP:0009054 Scapuloperoneal myopathy TAS TAS Disease name contained:#300695 scapuloperoneal myopathy, x-linked dominant; OMIM:300695 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-301830.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-301830.tab 2015-01-26 13:58:45 UTC (rev 5277)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-301830.tab 2015-01-26 19:45:23 UTC (rev 5278)
@@ -22,4 +22,6 @@
OMIM:301830 #301830 SPINAL MUSCULAR ATROPHY, X-LINKED 2; SMAX2;;SPINAL MUSCULAR ATROPHY, X-LINKED LETHAL INFANTILE;;SPINAL MUSCULAR ATROPHY, INFANTILE X-LINKED; XLSMA;;ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, X-LINKED;;AMC, DISTAL, X-LINKED;;ARTHROGRYPOSIS, X-LINKED, TYPE I; AMCX1 HP:0002747 Respiratory insufficiency due to muscle weakness IEA IEA OMIM-CS:RESPIRATORY > RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS OMIM:301830 HPO:skoehler Nov 16, 2012
OMIM:301830 #301830 SPINAL MUSCULAR ATROPHY, X-LINKED 2; SMAX2;;SPINAL MUSCULAR ATROPHY, X-LINKED LETHAL INFANTILE;;SPINAL MUSCULAR ATROPHY, INFANTILE X-LINKED; XLSMA;;ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, X-LINKED;;AMC, DISTAL, X-LINKED;;ARTHROGRYPOSIS, X-LINKED, TYPE I; AMCX1 HP:0002804 Arthrogryposis multiplex congenita IEA IEA OMIM-CS:SKELETAL > ARTHROGRYPOSIS OMIM:301830 HPO:skoehler Nov 16, 2012
OMIM:301830 #301830 SPINAL MUSCULAR ATROPHY, X-LINKED 2; SMAX2;;SPINAL MUSCULAR ATROPHY, X-LINKED LETHAL INFANTILE;;SPINAL MUSCULAR ATROPHY, INFANTILE X-LINKED; XLSMA;;ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, X-LINKED;;AMC, DISTAL, X-LINKED;;ARTHROGRYPOSIS, X-LINKED, TYPE I; AMCX1 HP:0002828 Multiple joint contractures IEA IEA OMIM-CS:SKELETAL > MULTIPLE JOINT CONTRACTURES OMIM:301830 HPO:skoehler Nov 16, 2012
-OMIM:301830 #301830 SPINAL MUSCULAR ATROPHY, X-LINKED 2; SMAX2;;SPINAL MUSCULAR ATROPHY, X-LINKED LETHAL INFANTILE;;SPINAL MUSCULAR ATROPHY, INFANTILE X-LINKED; XLSMA;;ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, X-LINKED;;AMC, DISTAL, X-LINKED;;ARTHROGRYPOSIS, X-LINKED, TYPE I; AMCX1 HP:0001419 X-linked recessive inheritance IEA IEA OMIM-CS:INHERITANCE > X-LINKED RECESSIVE OMIM:301830 HPO:skoehler Nov 20, 2012
+OMIM:301830 #301830 SPINAL MUSCULAR ATROPHY, X-LINKED 2; SMAX2;;SPINAL MUSCULAR ATROPHY, X-LINKED LETHAL INFANTILE;;SPINAL MUSCULAR ATROPHY, INFANTILE X-LINKED; XLSMA;;ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, X-LINKED;;AMC, DISTAL, X-LINKED;;ARTHROGRYPOSIS, X-LINKED, TYPE I; AMCX1 HP:0001419 X-linked recessive inheritance IEA IEA OMIM-CS:INHERITANCE > X-LINKED RECESSIVE OMIM:301830 HPO:skoehler Nov 20, 2012
+OMIM:301830 #301830 SPINAL MUSCULAR ATROPHY, X-LINKED 2; SMAX2;;SPINAL MUSCULAR ATROPHY, X-LINKED LETHAL INFANTILE;;SPINAL MUSCULAR ATROPHY, INFANTILE X-LINKED; XLSMA;;ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, X-LINKED;;AMC, DISTAL, X-LINKED;;ARTHROGRYPOSIS, X-LINKED, TYPE I; AMCX1 HP:0007269 Spinal muscular atrophy TAS TAS Disease name contained:d lethal infantile;;spinal muscular atrophy, infantile x-linked OMIM:301830 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-550500.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-550500.tab 2015-01-26 13:58:45 UTC (rev 5277)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-550500.tab 2015-01-26 19:45:23 UTC (rev 5278)
@@ -1,4 +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:550500 MYOGLOBINURIA, RECURRENT HP:0001427 Mitochondrial inheritance TAS TAS OMIM:550500 HPO:skoehler Feb 17, 2009
OMIM:550500 MYOGLOBINURIA, RECURRENT HP:0003200 Ragged-red muscle fibers TAS TAS OMIM:550500 HPO:skoehler Feb 17, 2009
-OMIM:550500 MYOGLOBINURIA, RECURRENT HP:0008305 Exercise-induced myoglobinuria TAS TAS OMIM:550500 HPO:probinson Mar 30, 2013
+OMIM:550500 MYOGLOBINURIA, RECURRENT HP:0008305 Exercise-induced myoglobinuria TAS TAS OMIM:550500 HPO:probinson Mar 30, 2013
+OMIM:550500 MYOGLOBINURIA, RECURRENT HP:0003652 Recurrent myoglobinuria TAS TAS Disease name contained:myoglobinuria, recurrent OMIM:550500 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604286.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604286.tab 2015-01-26 13:58:45 UTC (rev 5277)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604286.tab 2015-01-26 19:45:23 UTC (rev 5278)
@@ -9,3 +9,6 @@
OMIM:604286 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E HP:0008988 Pelvic girdle muscle atrophy TAS TAS OMIM:604286 HPO:probinson 17.02.2009
OMIM:604286 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E HP:0003707 Calf muscle pseudohypertrophy TAS TAS OMIM:604286 HPO:skoehler 20.07.2012
OMIM:604286 #604286 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E HP:0003691 Scapular winging IEA IEA OMIM-CS:CHEST_RIBS, STERNUM, CLAVICLE, AND SCAPULAE > SCAPULAR WINGING OMIM:604286 HPO:skoehler 17.10.2012
+OMIM:604286 #604286 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E HP:0003560 Muscular dystrophy TAS TAS Disease name contained:#604286 muscular dystrophy, limb-girdle, type OMIM:604286 HPO:skoehler 21.01.2015
+
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606851.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606851.tab 2015-01-26 13:58:45 UTC (rev 5277)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606851.tab 2015-01-26 19:45:23 UTC (rev 5278)
@@ -19,4 +19,6 @@
OMIM:606851 CREE MENTAL RETARDATION SYNDROME HP:0001263 Global developmental delay IEA IEA OMIM:606851 HPO 17.02.2009
OMIM:606851 CREE MENTAL RETARDATION SYNDROME HP:0001838 Vertical talus IEA IEA OMIM:606851 HPO 17.02.2009
OMIM:606851 CREE MENTAL RETARDATION SYNDROME HP:0006712 Aplasia/Hypoplasia of the ribs IEA IEA OMIM:606851 HPO 17.02.2009
-OMIM:606851 CREE MENTAL RETARDATION SYNDROME HP:0010554 Cutaneous syndactyly of fingers TAS TAS OMIM:606851 HPO:probinson 25.07.2012
+OMIM:606851 CREE MENTAL RETARDATION SYNDROME HP:0010554 Cutaneous syndactyly of fingers TAS TAS OMIM:606851 HPO:probinson 25.07.2012
+OMIM:606851 CREE MENTAL RETARDATION SYNDROME HP:0001249 Intellectual disability TAS TAS Disease name contained:cree mental retardation syndrome OMIM:606851 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609165.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609165.tab 2015-01-26 13:58:45 UTC (rev 5277)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609165.tab 2015-01-26 19:45:23 UTC (rev 5278)
@@ -4,3 +4,5 @@
OMIM:609165 #609165 ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR; CRIE;;ICHTHYOSIS WITH CONFETTI; IWC;;ICHTHYOSIS VARIEGATAERYTHROKERATODERMA, RETICULAR, INCLUDED;;AARAU DISEASE, INCLUDED HP:0000998 Hypertrichosis IEA IEA rare OMIM-CS:SKIN, NAILS, HAIR_HAIR > HYPERTRICHOSIS (RARE) OMIM:609165 HPO:skoehler 13.04.2014
OMIM:609165 #609165 ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR; CRIE;;ICHTHYOSIS WITH CONFETTI; IWC;;ICHTHYOSIS VARIEGATAERYTHROKERATODERMA, RETICULAR, INCLUDED;;AARAU DISEASE, INCLUDED HP:0001217 Clubbing IEA IEA rare OMIM-CS:SKIN, NAILS, HAIR_RETAINED NUCLEI IN STRATUM CORNEUM NAILS > CLUBBING (RARE) OMIM:609165 HPO:skoehler 13.04.2014
OMIM:609165 #609165 ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR; CRIE;;ICHTHYOSIS WITH CONFETTI; IWC;;ICHTHYOSIS VARIEGATAERYTHROKERATODERMA, RETICULAR, INCLUDED;;AARAU DISEASE, INCLUDED HP:0000972 Palmoplantar hyperkeratosis IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > PALMOPLANTAR HYPERKERATOSIS OMIM:609165 HPO:skoehler 13.04.2014
+OMIM:609165 #609165 ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR; CRIE;;ICHTHYOSIS WITH CONFETTI; IWC;;ICHTHYOSIS VARIEGATAERYTHROKERATODERMA, RETICULAR, INCLUDED;;AARAU DISEASE, INCLUDED HP:0001019 Erythroderma TAS TAS Disease name contained:#609165 erythroderma, ichthyosiform, con OMIM:609165 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612551.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612551.tab 2015-01-26 13:58:45 UTC (rev 5277)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612551.tab 2015-01-26 19:45:23 UTC (rev 5278)
@@ -1,3 +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:612551 #612551 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO; FSGS4;;END-STAGE RENAL DISEASE, NONDIABETIC, SUSCEPTIBILITY TO, INCLUDED APOL1 HP:0000097 Focal segmental glomerulosclerosis IEA IEA OMIM:612551 HPO:skoehler Jan 9, 2013
-OMIM:612551 #612551 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO; FSGS4;;END-STAGE RENAL DISEASE, NONDIABETIC, SUSCEPTIBILITY TO, INCLUDED APOL1 HP:0010982 Polygenic inheritance IEA IEA OMIM:612551 HPO:skoehler Mar 12, 2013
+OMIM:612551 #612551 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO; FSGS4;;END-STAGE RENAL DISEASE, NONDIABETIC, SUSCEPTIBILITY TO, INCLUDED APOL1 HP:0010982 Polygenic inheritance IEA IEA OMIM:612551 HPO:skoehler Mar 12, 2013
+OMIM:612551 #612551 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO; FSGS4;;END-STAGE RENAL DISEASE, NONDIABETIC, SUSCEPTIBILITY TO, INCLUDED HP:0003774 Stage 5 chronic kidney disease TAS TAS Disease name contained:tibility to; fsgs4;;end-stage renal disease, nondiabetic, susce OMIM:612551 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612576.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612576.tab 2015-01-26 13:58:45 UTC (rev 5277)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612576.tab 2015-01-26 19:45:23 UTC (rev 5278)
@@ -4,3 +4,5 @@
OMIM:612576 #612576 CHROMOSOME 17p13.3, TELOMERIC, DUPLICATION SYNDROME;;SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 3; SHFLD3 HP:0100257 Ectrodactyly IEA IEA OMIM-CS:SKELETAL_HANDS > ECTRODACTYLY OMIM:612576 HPO:skoehler 28.01.2014
OMIM:612576 #612576 CHROMOSOME 17p13.3, TELOMERIC, DUPLICATION SYNDROME;;SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 3; SHFLD3 HP:0012165 Oligodactyly IEA IEA OMIM-CS:SKELETAL_HANDS > OLIGODACTYLY OMIM:612576 HPO:skoehler 28.01.2014
OMIM:612576 #612576 CHROMOSOME 17p13.3, TELOMERIC, DUPLICATION SYNDROME;;SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 3; SHFLD3 HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY OMIM:612576 HPO:skoehler 26.11.2014
+OMIM:612576 #612576 CHROMOSOME 17P13.3, TELOMERIC, DUPLICATION SYNDROME;;SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 3; SHFLD3 HP:0001171 Split hand TAS TAS Disease name contained:plication syndrome;;split-hand/foot malformation w OMIM:612576 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612847.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612847.tab 2015-01-26 13:58:45 UTC (rev 5277)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612847.tab 2015-01-26 19:45:23 UTC (rev 5278)
@@ -10,4 +10,6 @@
OMIM:612847 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAKISTANI TYPE HP:0003301 Irregular vertebral endplates TAS TAS OMIM:612847 HPO:skoehler 19.06.2010
OMIM:612847 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAKISTANI TYPE HP:0004322 Short stature TAS TAS OMIM:612847 HPO:probinson 19.06.2010
OMIM:612847 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAKISTANI TYPE HP:0004626 Lumbar scoliosis TAS TAS OMIM:612847 HPO:skoehler 19.06.2010
-OMIM:612847 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAKISTANI TYPE HP:0009816 Hypoplasia involving bones of the lower limbs TAS TAS OMIM:612847 HPO:probinson 27.05.2012
+OMIM:612847 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAKISTANI TYPE HP:0009816 Hypoplasia involving bones of the lower limbs TAS TAS OMIM:612847 HPO:probinson 27.05.2012
+OMIM:612847 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAKISTANI TYPE HP:0002651 Spondyloepimetaphyseal dysplasia TAS TAS Disease name contained:spondyloepimetaphyseal dysplasia, pakistani type OMIM:612847 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612936.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612936.tab 2015-01-26 13:58:45 UTC (rev 5277)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612936.tab 2015-01-26 19:45:23 UTC (rev 5278)
@@ -12,8 +12,10 @@
OMIM:612936 CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3; CPSQ3 HP:0002171 Gliosis IEA IEA OMIM:612936 HPO:skoehler 19.06.2010
OMIM:612936 CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3; CPSQ3 HP:0002200 Pseudobulbar signs IEA IEA OMIM:612936 HPO:skoehler 19.06.2010
OMIM:612936 CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3; CPSQ3 HP:0002307 Drooling IEA IEA OMIM:612936 HPO:skoehler 19.06.2010
-OMIM:612936 CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3; CPSQ3 HP:0002510 Spastic tetraplegia IEA IEA OMIM:612936 HPO:skoehler 19.06.2010
OMIM:612936 CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3; CPSQ3 HP:0003487 Babinski sign IEA IEA OMIM:612936 HPO:skoehler 19.06.2010
OMIM:612936 CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3; CPSQ3 HP:0003577 Congenital onset IEA IEA OMIM:612936 HPO:skoehler 19.06.2010
OMIM:612936 CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3; CPSQ3 HP:0006887 Intellectual disability, progressive IEA IEA OMIM:612936 HPO:skoehler 19.06.2010
OMIM:612936 #612936 SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50;;CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3, FORMERLY; CPSQ3, FORMERLY HP:0010864 Intellectual disability, severe IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, SEVERE OMIM:612936 HPO:skoehler 17.10.2012
+OMIM:612936 #612936 SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50;;CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3, FORMERLY; CPSQ3, FORMERLY HP:0001258 Spastic paraplegia TAS TAS Disease name contained:#612936 spastic paraplegia 50, autosomal reces OMIM:612936 HPO:skoehler 21.01.2015
+OMIM:612936 #612936 SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50;;CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3, FORMERLY; CPSQ3, FORMERLY HP:0100021 Cerebral palsy TAS TAS Disease name contained:l recessive; spg50;;cerebral palsy, spastic quadripleg OMIM:612936 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614091.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614091.tab 2015-01-26 13:58:45 UTC (rev 5277)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614091.tab 2015-01-26 19:45:23 UTC (rev 5278)
@@ -15,3 +15,5 @@
OMIM:614091 #614091 SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE V; SRPS5 HP:0100259 Postaxial polydactyly IEA IEA OMIM-CS:SKELETAL_FEET > POSTAXIAL POLYDACTYLY OMIM:614091 HPO:skoehler 25.02.2014
OMIM:614091 #614091 SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE V; SRPS5 HP:0100259 Postaxial polydactyly IEA IEA OMIM-CS:SKELETAL_HANDS > POSTAXIAL POLYDACTYLY OMIM:614091 HPO:skoehler 25.02.2014
OMIM:614091 #614091 SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE V; SRPS5 HP:0003026 Short long bones IEA IEA OMIM-CS:SKELETAL_LIMBS > SHORT LONG BONES OMIM:614091 HPO:skoehler 25.02.2014
+OMIM:614091 #614091 SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE V; SRPS5 HP:0006644 Thoracic dysplasia TAS TAS Disease name contained:#614091 short-rib thoracic dysplasia 7 with or without p OMIM:614091 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614279.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614279.tab 2015-01-26 13:58:45 UTC (rev 5277)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614279.tab 2015-01-26 19:45:23 UTC (rev 5278)
@@ -2,4 +2,6 @@
OMIM:614279 #614279 46,XY SEX REVERSAL 8; SRXY8;;MALE PSEUDOHERMAPHRODITISM DUE TO DEFICIENCY OF TESTICULAR 17,20-DESMOLASE;TDD HP:0000062 Ambiguous genitalia IEA IEA OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > AMBIGUOUS EXTERNAL GENITALIA OMIM:614279 HPO:skoehler Oct 17, 2012
OMIM:614279 #614279 46,XY SEX REVERSAL 8; SRXY8;;MALE PSEUDOHERMAPHRODITISM DUE TO DEFICIENCY OF TESTICULAR 17,20-DESMOLASE;TDD HP:0000028 Cryptorchidism IEA IEA OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > UNDESCENDED TESTES OMIM:614279 HPO:skoehler Oct 17, 2012
OMIM:614279 #614279 46,XY SEX REVERSAL 8; SRXY8;;MALE PSEUDOHERMAPHRODITISM DUE TO DEFICIENCY OF TESTICULAR 17,20-DESMOLASE;TDD HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:614279 HPO:skoehler Oct 17, 2012
-OMIM:614279 #614279 46,XY SEX REVERSAL 8; SRXY8;;MALE PSEUDOHERMAPHRODITISM DUE TO DEFICIENCY OF TESTICULAR 17,20-DESMOLASE;TDD HP:0012245 Sex reversal IEA IEA OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > AMBIGUOUS EXTERNAL GENITALIA OMIM:614279 HPO:skoehler Apr 2, 2013
+OMIM:614279 #614279 46,XY SEX REVERSAL 8; SRXY8;;MALE PSEUDOHERMAPHRODITISM DUE TO DEFICIENCY OF TESTICULAR 17,20-DESMOLASE;TDD HP:0012245 Sex reversal IEA IEA OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > AMBIGUOUS EXTERNAL GENITALIA OMIM:614279 HPO:skoehler Apr 2, 2013
+OMIM:614279 #614279 46,XY SEX REVERSAL 8; SRXY8;;MALE PSEUDOHERMAPHRODITISM DUE TO DEFICIENCY OF TESTICULAR 17,20-DESMOLASE;TDD HP:0000037 Male pseudohermaphroditism TAS TAS Disease name contained: reversal 8; srxy8;;male pseudohermaphroditism due to deficiency o OMIM:614279 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614296.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614296.tab 2015-01-26 13:58:45 UTC (rev 5277)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614296.tab 2015-01-26 19:45:23 UTC (rev 5278)
@@ -9,3 +9,5 @@
OMIM:614296 #614296 WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT; WFSL;;HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSEREGULATION HP:0000738 Hallucinations IEA IEA rare OMIM-CS:NEUROLOGIC_BEHAVIORAL/PSYCHIATRIC MANIFESTATIONS > HALLUCINATIONS (RARE) OMIM:614296 HPO:skoehler 18.11.2012
OMIM:614296 #614296 WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT; WFSL;;HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSEREGULATION HP:0000709 Psychosis IEA IEA rare OMIM-CS:NEUROLOGIC_BEHAVIORAL/PSYCHIATRIC MANIFESTATIONS > PSYCHOSIS (RARE) OMIM:614296 HPO:skoehler 18.11.2012
OMIM:614296 #614296 WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT; WFSL;;HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSEREGULATION HP:0100753 Schizophrenia IEA IEA rare OMIM-CS:NEUROLOGIC_BEHAVIORAL/PSYCHIATRIC MANIFESTATIONS > SCHIZOPHRENIA (RARE) OMIM:614296 HPO:skoehler 18.11.2012
+OMIM:614296 #614296 WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT; WFSL;;HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSEREGULATION HP:0000365 Hearing impairment TAS TAS Disease name contained:mal dominant; wfsl;;hearing loss, progressive, with OMIM:614296 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614414.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614414.tab 2015-01-26 13:58:45 UTC (rev 5277)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614414.tab 2015-01-26 19:45:23 UTC (rev 5278)
@@ -1,2 +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:614414 %614414 DEAFNESS, AUTOSOMAL RECESSIVE 96; DFNB96 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:614414 HPO:skoehler 17.10.2012
+OMIM:614414 %614414 DEAFNESS, AUTOSOMAL RECESSIVE 96; DFNB96 HP:0000365 Hearing impairment TAS TAS Disease name contained:%614414 deafness, autosomal recessiv OMIM:614414 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615031.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615031.tab 2015-01-26 13:58:45 UTC (rev 5277)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615031.tab 2015-01-26 19:45:23 UTC (rev 5278)
@@ -21,3 +21,5 @@
OMIM:615031 #615031 SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE; SPG49 HP:0000475 Broad neck TAS TAS OMIM:615031 HPO:skoehler Aug 11, 2013
OMIM:615031 #615031 SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE; SPG49 HP:0001252 Muscular hypotonia IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > HYPOTONIA OMIM:615031 HPO:skoehler 26.11.2014
OMIM:615031 #615031 SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE; SPG49 HP:0001252 Muscular hypotonia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPOTONIA OMIM:615031 HPO:skoehler 26.11.2014
+OMIM:615031 #615031 SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE; SPG49 HP:0001258 Spastic paraplegia TAS TAS Disease name contained:#615031 spastic paraplegia 49, autosomal reces OMIM:615031 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615432.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615432.tab 2015-01-26 13:58:45 UTC (rev 5277)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615432.tab 2015-01-26 19:45:23 UTC (rev 5278)
@@ -4,3 +4,5 @@
OMIM:615432 #615432 SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5 HP:0003829 Incomplete penetrance IEA IEA OMIM-CS:MISCELLANEOUS > INCOMPLETE PENETRANCE OMIM:615432 HPO:skoehler 18.11.2013
OMIM:615432 #615432 SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5 HP:0000729 Autism spectrum disorder IEA IEA OMIM-CS:NEUROLOGIC_BEHAVIORAL/PSYCHIATRIC MANIFESTATIONS > AUTISM SPECTRUM DISORDER OMIM:615432 HPO:skoehler 18.11.2013
OMIM:615432 #615432 SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5 HP:0001263 Global developmental delay IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED DEVELOPMENT (IN SOME PATIENTS) OMIM:615432 HPO:skoehler 18.11.2013
+OMIM:615432 #615432 SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5 HP:0002463 Language impairment TAS TAS Disease name contained:#615432 specific language impairment 5; sli5 OMIM:615432 HPO:skoehler 21.01.2015
+
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <koe...@us...> - 2015-01-26 13:58:53
|
Revision: 5277
http://sourceforge.net/p/obo/svn/5277
Author: koehlers
Date: 2015-01-26 13:58:45 +0000 (Mon, 26 Jan 2015)
Log Message:
-----------
added manually curated annotation
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-269600.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-273250.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-301200.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601705.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607626.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609566.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612925.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613412.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613480.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613916.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614594.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615206.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615267.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615544.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615555.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616079.tab
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300194.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-269600.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-269600.tab 2015-01-26 11:14:38 UTC (rev 5276)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-269600.tab 2015-01-26 13:58:45 UTC (rev 5277)
@@ -5,3 +5,5 @@
OMIM:269600 SEA-BLUE HISTIOCYTE DISEASE HP:0001744 Splenomegaly IEA IEA OMIM:269600 HPO 17.02.2009
OMIM:269600 SEA-BLUE HISTIOCYTE DISEASE HP:0001906 Mild thrombocytopenia IEA IEA OMIM:269600 HPO 17.02.2009
OMIM:269600 SEA-BLUE HISTIOCYTE DISEASE HP:0002221 Absent axillary hair IEA IEA OMIM:269600 HPO 17.02.2009
+OMIM:269600 SEA-BLUE HISTIOCYTE DISEASE HP:0001982 Sea-blue histiocytosis TAS TAS Disease name contained:e histiocyte diseasesea-blue histiocytosis|http://www.orpha.ne OMIM:269600 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-273250.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-273250.tab 2015-01-26 11:14:38 UTC (rev 5276)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-273250.tab 2015-01-26 13:58:45 UTC (rev 5277)
@@ -1,2 +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:273250 TESTICULAR REGRESSION SYNDROME HP:0000812 Abnormal internal genitalia IEA IEA OMIM:273250 HPO:skoehler 17.02.2009
+OMIM:273250 TESTICULAR REGRESSION SYNDROME HP:0012870 Vanishing testis TAS TAS Disease name contained:ing testes syndrome|vanishing testis syndrome|http://www OMIM:273250 HPO:skoehler 21.01.2015
+
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300194.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300194.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300194.tab 2015-01-26 13:58:45 UTC (rev 5277)
@@ -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:300194 ALPORT SYNDROME - INTELLECTUAL DISABILITY - MIDFACE HYPOPLASIA - ELLIPTOCYTOSIS HP:0004445 Elliptocytosis TAS TAS Disease name contained:idface hypoplasia - elliptocytosisamme complex|amme sy OMIM:300194 HPO:skoehler 21.01.2015
+OMIM:300194 ALPORT SYNDROME - INTELLECTUAL DISABILITY - MIDFACE HYPOPLASIA - ELLIPTOCYTOSIS HP:0001249 Intellectual disability TAS TAS Disease name contained:alport syndrome - intellectual disability - midface hypoplasi OMIM:300194 HPO:skoehler 21.01.2015
+OMIM:300194 ALPORT SYNDROME - INTELLECTUAL DISABILITY - MIDFACE HYPOPLASIA - ELLIPTOCYTOSIS HP:0011800 Midface retrusion TAS TAS Disease name contained:ectual disability - midface hypoplasia - elliptocytosisamm OMIM:300194 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-301200.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-301200.tab 2015-01-26 11:14:38 UTC (rev 5276)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-301200.tab 2015-01-26 13:58:45 UTC (rev 5277)
@@ -5,3 +5,5 @@
OMIM:301200 AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1 HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:301200 HPO 17.02.2009
OMIM:301200 #301200 AMELOGENESIS IMPERFECTA, TYPE IE; AI1E;;AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1;;AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, WITH SNOW-CAPPED TEETH;;AMELOGENESIS IMPERFECTA, X-LINKED 1; AIH1;;ENAMEL HYPOPLASIA, X-LINKED HP:0003812 Phenotypic variability IEA IEA OMIM-CS:MISCELLANEOUS > PHENOTYPIC VARIABILITY OMIM:301200 HPO:skoehler 27.03.2013
OMIM:301200 #301200 AMELOGENESIS IMPERFECTA, TYPE IE; AI1E;;AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1;;AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, WITH SNOW-CAPPED TEETH;;AMELOGENESIS IMPERFECTA, X-LINKED 1; AIH1;;ENAMEL HYPOPLASIA, X-LINKED HP:0200095 Anterior open bite IEA IEA OMIM-CS:HEAD AND NECK_TEETH > ANTERIOR OPEN BITE OMIM:301200 HPO:skoehler 04.06.2013
+OMIM:301200 #301200 AMELOGENESIS IMPERFECTA, TYPE IE; AI1E;;AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1;;AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, WITH SNOW-CAPPED TEETH;;AMELOGENESIS IMPERFECTA, X-LINKED 1; AIH1;;ENAMEL HYPOPLASIA, X-LINKED HP:0006297 Hypoplasia of dental enamel TAS TAS Disease name contained:, x-linked 1; aih1;;enamel hypoplasia, x-linked OMIM:301200 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601705.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601705.tab 2015-01-26 11:14:38 UTC (rev 5276)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601705.tab 2015-01-26 13:58:45 UTC (rev 5277)
@@ -1,6 +1,7 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
OMIM:601705 T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:601705 HPO 17.02.2009
OMIM:601705 T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY HP:0001596 Alopecia IEA IEA OMIM:601705 HPO:skoehler 20.06.2010
-OMIM:601705 T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY HP:0001597 Abnormality of the nail IEA IEA OMIM:601705 HPO 17.02.2009
OMIM:601705 T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:601705 HPO 17.02.2009
OMIM:601705 T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY HP:0005352 Severe T-cell immunodeficiency IEA IEA OMIM:601705 HPO 17.02.2009
+OMIM:601705 T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY HP:0008404 Nail dystrophy TAS TAS Disease name contained:ngenital alopecia - nail dystrophy|winged helix defici OMIM:601705 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607626.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607626.tab 2015-01-26 11:14:38 UTC (rev 5276)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607626.tab 2015-01-26 13:58:45 UTC (rev 5277)
@@ -11,4 +11,6 @@
OMIM:607626 ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS HP:0001871 Abnormality of blood and blood-forming tissues IEA IEA OMIM:607626 HPO Feb 17, 2009
OMIM:607626 ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS HP:0002240 Hepatomegaly IEA IEA OMIM:607626 HPO Feb 17, 2009
OMIM:607626 ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS HP:0006297 Hypoplasia of dental enamel IEA IEA OMIM:607626 HPO Feb 17, 2009
-OMIM:607626 ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS HP:0008064 Ichthyosis TAS TAS OMIM:607626 HPO:probinson Dec 15, 2013
+OMIM:607626 ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS HP:0008064 Ichthyosis TAS TAS OMIM:607626 HPO:probinson Dec 15, 2013
+OMIM:607626 ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS HP:0030151 Cholangitis TAS TAS Disease name contained:cia, and sclerosing cholangitisichthyosis - hypotri OMIM:607626 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609566.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609566.tab 2015-01-26 11:14:38 UTC (rev 5276)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609566.tab 2015-01-26 13:58:45 UTC (rev 5277)
@@ -2,4 +2,6 @@
OMIM:609566 PARIETAL FORAMINA 3 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:609566 HPO Feb 17, 2009
OMIM:609566 PARIETAL FORAMINA 3 HP:0002084 Encephalocele IEA IEA OMIM:609566 HPO Feb 17, 2009
OMIM:609566 PARIETAL FORAMINA 3 HP:0002695 Symmetrical, oval parietal bone defects IEA IEA OMIM:609566 HPO Feb 17, 2009
-OMIM:609566 PARIETAL FORAMINA 3 HP:0007385 Aplasia cutis congenita of scalp IEA IEA OMIM:609566 HPO Feb 17, 2009
+OMIM:609566 PARIETAL FORAMINA 3 HP:0007385 Aplasia cutis congenita of scalp IEA IEA OMIM:609566 HPO Feb 17, 2009
+OMIM:609566 PARIETAL FORAMINA 3 HP:0002697 Parietal foramina TAS TAS Disease name contained:parietal foramina 3 OMIM:609566 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612925.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612925.tab 2015-01-26 11:14:38 UTC (rev 5276)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612925.tab 2015-01-26 13:58:45 UTC (rev 5277)
@@ -10,3 +10,5 @@
OMIM:612925 #612925 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5; AHUS5;;AHUS, SUSCEPTIBILITY TO, 5 HP:0003138 Increased blood urea nitrogen (BUN) IEA IEA OMIM-CS:LABORATORY ABNORMALITIES > INCREASED BLOOD UREA NITROGEN (BUN) OMIM:612925 HPO:skoehler 17.10.2012
OMIM:612925 #612925 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5; AHUS5;;AHUS, SUSCEPTIBILITY TO, 5 HP:0003259 Elevated serum creatinine IEA IEA OMIM-CS:LABORATORY ABNORMALITIES > INCREASED CREATININE OMIM:612925 HPO:skoehler 17.10.2012
OMIM:612925 #612925 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5; AHUS5;;AHUS, SUSCEPTIBILITY TO, 5 HP:0000822 Hypertension IEA IEA variable OMIM-CS:CARDIOVASCULAR_VASCULAR > HYPERTENSION (VARIABLE) OMIM:612925 HPO:skoehler 28.11.2012
+OMIM:612925 #612925 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5; AHUS5;;AHUS, SUSCEPTIBILITY TO, 5 HP:0005575 Hemolytic-uremic syndrome TAS TAS Disease name contained:#612925 hemolytic uremic syndrome, atypical, suscepti OMIM:612925 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613412.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613412.tab 2015-01-26 11:14:38 UTC (rev 5276)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613412.tab 2015-01-26 13:58:45 UTC (rev 5277)
@@ -2,3 +2,5 @@
OMIM:613412 %613412 ESOPHAGITIS, EOSINOPHILIC, 2; EOE2 HP:0002015 Dysphagia IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > DYSPHAGIA OMIM:613412 HPO:skoehler 17.10.2012
OMIM:613412 %613412 ESOPHAGITIS, EOSINOPHILIC, 2; EOE2 HP:0002013 Vomiting IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > VOMITING OMIM:613412 HPO:skoehler 17.10.2012
OMIM:613412 %613412 ESOPHAGITIS, EOSINOPHILIC, 2; EOE2 HP:0001508 Failure to thrive IEA IEA OMIM-CS:GROWTH_OTHER > FAILURE TO THRIVE OMIM:613412 HPO:skoehler 17.10.2012
+OMIM:613412 %613412 ESOPHAGITIS, EOSINOPHILIC, 2; EOE2 HP:0100633 Esophagitis TAS TAS Disease name contained:%613412 esophagitis, eosinophilic, 2; e OMIM:613412 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613480.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613480.tab 2015-01-26 11:14:38 UTC (rev 5276)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613480.tab 2015-01-26 13:58:45 UTC (rev 5277)
@@ -3,3 +3,5 @@
OMIM:613480 #613480 LYMPHEDEMA, HEREDITARY, IC;;LMPH1C HP:0003829 Incomplete penetrance IEA IEA OMIM-CS:MISCELLANEOUS > REDUCED PENETRANCE OMIM:613480 HPO:skoehler 17.10.2012
OMIM:613480 #613480 LYMPHEDEMA, HEREDITARY, IC;;LMPH1C HP:0100658 Cellulitis IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > CELLULITIS OMIM:613480 HPO:skoehler 17.10.2012
OMIM:613480 #613480 LYMPHEDEMA, HEREDITARY, IC;;LMPH1C HP:0001581 Recurrent skin infections IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > RECURRENT SKIN INFECTIONS OMIM:613480 HPO:skoehler 17.10.2012
+OMIM:613480 #613480 LYMPHEDEMA, HEREDITARY, IC;;LMPH1C HP:0001004 Lymphedema TAS TAS Disease name contained:#613480 lymphedema, hereditary, ic;;lm OMIM:613480 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613916.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613916.tab 2015-01-26 11:14:38 UTC (rev 5276)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613916.tab 2015-01-26 13:58:45 UTC (rev 5277)
@@ -1,2 +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:613916 %613916 DEAFNESS, AUTOSOMAL RECESSIVE 89; DFNB89 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:613916 HPO:skoehler 17.10.2012
+OMIM:613916 %613916 DEAFNESS, AUTOSOMAL RECESSIVE 89; DFNB89 HP:0000365 Hearing impairment TAS TAS Disease name contained:%613916 deafness, autosomal recessiv OMIM:613916 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614594.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614594.tab 2015-01-26 11:14:38 UTC (rev 5276)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614594.tab 2015-01-26 13:58:45 UTC (rev 5277)
@@ -10,3 +10,6 @@
OMIM:614594 #614594 PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTICPLAQUES;;OLMSTED SYNDROME; OLMS HP:0001371 Flexion contracture IEA IEA OMIM-CS:SKELETAL_HANDS > FLEXION CONTRACTURES OF FINGERS OMIM:614594 HPO:skoehler 22.01.2013
OMIM:614594 #614594 PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTICPLAQUES;;OLMSTED SYNDROME; OLMS HP:0000989 Pruritus IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > PRURITUS OF SKIN LESIONS, SEVERE OMIM:614594 HPO:skoehler 22.01.2013
OMIM:614594 #614594 PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTICPLAQUES;;OLMSTED SYNDROME; OLMS HP:0008404 Nail dystrophy IEA IEA OMIM-CS:SKIN, NAILS, HAIR_NAILS > DYSTROPHIC NAILS OMIM:614594 HPO:skoehler 03.05.2013
+OMIM:614594 #614594 PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTICPLAQUES;;OLMSTED SYNDROME; OLMS HP:0000982 Palmoplantar keratoderma TAS TAS Disease name contained:#614594 palmoplantar keratoderma, mutilating, with p OMIM:614594 HPO:skoehler 21.01.2015
+OMIM:614594 #614594 PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTICPLAQUES;;OLMSTED SYNDROME; OLMS HP:0007957 Corneal opacity TAS TAS rare OMIM:614594 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615206.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615206.tab 2015-01-26 11:14:38 UTC (rev 5276)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615206.tab 2015-01-26 13:58:45 UTC (rev 5277)
@@ -4,3 +4,5 @@
OMIM:615206 #615206 CARD11 IMMUNODEFICIENCY HP:0003593 Infantile onset IEA IEA OMIM-CS:MISCELLANEOUS > ONSET IN INFANCY OMIM:615206 HPO:skoehler 07.05.2013
OMIM:615206 #615206 CARD11 IMMUNODEFICIENCY HP:0002205 Recurrent respiratory infections IEA IEA OMIM-CS:RESPIRATORY > RESPIRATORY INFECTIONS, RECURRENT OMIM:615206 HPO:skoehler 07.05.2013
OMIM:615206 #615206 CARD11 IMMUNODEFICIENCY HP:0002090 Pneumonia IEA IEA OMIM-CS:RESPIRATORY_LUNG > PNEUMONIA OMIM:615206 HPO:skoehler 07.05.2013
+OMIM:615206 #615206 CARD11 IMMUNODEFICIENCY HP:0002721 Immunodeficiency TAS TAS Disease name contained:#615206 card11 immunodeficiency OMIM:615206 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615267.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615267.tab 2015-01-26 11:14:38 UTC (rev 5276)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615267.tab 2015-01-26 13:58:45 UTC (rev 5277)
@@ -3,3 +3,7 @@
OMIM:615267 #615267 HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA; HH18 HP:0000164 Abnormality of the teeth IEA IEA rare OMIM-CS:HEAD AND NECK_TEETH > ABNORMAL DENTITION (IN SOME PATIENTS) OMIM:615267 HPO:skoehler 18.08.2013
OMIM:615267 #615267 HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA; HH18 HP:0000938 Osteopenia IEA IEA rare OMIM-CS:SKELETAL > OSTEOPENIA (IN SOME PATIENTS) OMIM:615267 HPO:skoehler 18.08.2013
OMIM:615267 #615267 HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA; HH18 HP:0000939 Osteoporosis IEA IEA rare OMIM-CS:SKELETAL > OSTEOPOROSIS (IN SOME PATIENTS) OMIM:615267 HPO:skoehler 18.08.2013
+OMIM:615267 #615267 HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA; HH18 HP:0000135 Hypogonadism TAS TAS Disease name contained:67 hypogonadotropic hypogonadism 18 with or without OMIM:615267 HPO:skoehler 21.01.2015
+OMIM:615267 #615267 HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA; HH18 HP:0000006 Autosomal dominant inheritance TAS TAS Disease name contained:67 hypogonadotropic hypogonadism 18 with or without OMIM:615267 HPO:skoehler 21.01.2015
+OMIM:615267 #615267 HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA; HH18 HP:0000458 Anosmia TAS TAS rare Disease name contained: 18 with or without anosmia; hh18 OMIM:615267 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615544.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615544.tab 2015-01-26 11:14:38 UTC (rev 5276)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615544.tab 2015-01-26 13:58:45 UTC (rev 5277)
@@ -5,3 +5,5 @@
OMIM:615544 #615544 PERIVENTRICULAR NODULAR HETEROTOPIA 6; PVNH6 HP:0002521 Hypsarrhythmia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPSARRHYTHMIA OMIM:615544 HPO:skoehler 28.01.2014
OMIM:615544 #615544 PERIVENTRICULAR NODULAR HETEROTOPIA 6; PVNH6 HP:0001250 Seizures IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES OMIM:615544 HPO:skoehler 28.01.2014
OMIM:615544 #615544 PERIVENTRICULAR NODULAR HETEROTOPIA 6; PVNH6 HP:0000750 Delayed speech and language development IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED SPEECH OMIM:615544 HPO:skoehler 26.11.2014
+OMIM:615544 #615544 PERIVENTRICULAR NODULAR HETEROTOPIA 6; PVNH6 HP:0002282 Heterotopia TAS TAS Disease name contained:ventricular nodular heterotopia 6; pvnh6 OMIM:615544 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615555.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615555.tab 2015-01-26 11:14:38 UTC (rev 5276)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615555.tab 2015-01-26 13:58:45 UTC (rev 5277)
@@ -4,3 +4,5 @@
OMIM:615555 #615555 HYPERPROLACTINEMIA; HPRL HP:0000876 Oligomenorrhea IEA IEA rare OMIM-CS:GENITOURINARY_INTERNAL GENITALIA, FEMALE > OLIGOMENORRHEA (IN SOME PATIENTS) OMIM:615555 HPO:skoehler 28.01.2014
OMIM:615555 #615555 HYPERPROLACTINEMIA; HPRL HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT OMIM:615555 HPO:skoehler 28.01.2014
OMIM:615555 #615555 HYPERPROLACTINEMIA; HPRL HP:0100829 Galactorrhea IEA IEA rare OMIM-CS:CHEST_BREASTS > GALACTORRHEA (IN SOME PATIENTS) OMIM:615555 HPO:skoehler 24.03.2014
+OMIM:615555 #615555 HYPERPROLACTINEMIA; HPRL HP:0000870 Prolactin excess TAS TAS Disease name contained:#615555 hyperprolactinemia; hprl OMIM:615555 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616079.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616079.tab 2015-01-26 11:14:38 UTC (rev 5276)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616079.tab 2015-01-26 13:58:45 UTC (rev 5277)
@@ -2,3 +2,5 @@
OMIM:616079 #616079 RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELLABNORMALITIES; RDGCA HP:0000662 Night blindness IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > NIGHT BLINDNESS (IN SOME PATIENTS) OMIM:616079 HPO:skoehler 26.11.2014
OMIM:616079 #616079 RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELLABNORMALITIES; RDGCA HP:0000543 Optic disc pallor IEA IEA OMIM-CS:HEAD AND NECK_EYES > OPTIC DISC PALLOR OMIM:616079 HPO:skoehler 26.11.2014
OMIM:616079 #616079 RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELLABNORMALITIES; RDGCA HP:0000613 Photophobia IEA IEA MODIFIER:MILD;OMIM-CS:HEAD AND NECK_EYES > PHOTOPHOBIA, MILD OMIM:616079 HPO:skoehler 26.11.2014
+OMIM:616079 #616079 RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELLABNORMALITIES; RDGCA HP:0000556 Retinal dystrophy TAS TAS Disease name contained:#616079 retinal dystrophy with inner retinal OMIM:616079 HPO:skoehler 21.01.2015
+
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <koe...@us...> - 2015-01-26 11:14:38
|
Revision: 5276
http://sourceforge.net/p/obo/svn/5276
Author: koehlers
Date: 2015-01-26 11:14:38 +0000 (Mon, 26 Jan 2015)
Log Message:
-----------
added manually curated annotation
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-101400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137580.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-151800.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-164700.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-200900.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-209885.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-218000.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-260005.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-262500.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-272620.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612541.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613672.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615592.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615952.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-101400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-101400.tab 2015-01-26 10:03:07 UTC (rev 5275)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-101400.tab 2015-01-26 11:14:38 UTC (rev 5276)
@@ -46,3 +46,5 @@
OMIM:101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0002342 Intellectual disability, moderate IEA IEA OMIM-CS:MISCELLANEOUS > FEW PATIENTS WITH MILD TO MODERATE MENTAL RETARDATION OMIM:101400 HPO:skoehler 22.01.2013
OMIM:101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0003002 Breast carcinoma IEA IEA OMIM-CS:NEOPLASIA > INCREASED RISK OF BREAST CANCER IN WOMEN OMIM:101400 HPO:skoehler 22.01.2013
OMIM:101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0012368 Flat face IEA IEA OMIM-CS:HEAD AND NECK_FACE > FLAT FACE OMIM:101400 HPO:skoehler 22.10.2013
+OMIM:101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0002678 Skull asymmetry TAS TAS Disease name contained:drome;;acrocephaly, skull asymmetry, and mild syndactyl OMIM:101400 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137580.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137580.tab 2015-01-26 10:03:07 UTC (rev 5275)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137580.tab 2015-01-26 11:14:38 UTC (rev 5276)
@@ -7,3 +7,5 @@
OMIM:137580 GILLES DE LA TOURETTE SYNDROME HP:0010529 Echolalia IEA IEA OMIM:137580 HPO:skoehler 18.06.2010
OMIM:137580 GILLES DE LA TOURETTE SYNDROME HP:0100035 Phonic tics IEA IEA OMIM:137580 HPO:skoehler 20.06.2010
OMIM:137580 #137580 GILLES DE LA TOURETTE SYNDROME; GTS;;TOURETTE SYNDROME; TS;;TOURETTE DISORDERCHRONIC MOTOR TICS, INCLUDED HP:0000718 Aggressive behavior IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > AGGRESSIVE BEHAVIOR OMIM:137580 HPO:skoehler 25.02.2013
+OMIM:137580 #137580 GILLES DE LA TOURETTE SYNDROME; GTS;;TOURETTE SYNDROME; TS;;TOURETTE DISORDERCHRONIC MOTOR TICS, INCLUDED HP:0100034 Motor tics TAS TAS Disease name contained:tte disorderchronic motor tics, included OMIM:137580 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-151800.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-151800.tab 2015-01-26 10:03:07 UTC (rev 5275)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-151800.tab 2015-01-26 11:14:38 UTC (rev 5276)
@@ -2,3 +2,5 @@
OMIM:151800 LIPOMATOSIS, FAMILIAL BENIGN CERVICAL HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:151800 HPO 17.02.2009
OMIM:151800 LIPOMATOSIS, FAMILIAL BENIGN CERVICAL HP:0000951 Abnormality of the skin IEA IEA OMIM:151800 HPO 17.02.2009
OMIM:151800 LIPOMATOSIS, FAMILIAL BENIGN CERVICAL HP:0009830 Peripheral neuropathy IEA IEA OMIM:151800 HPO:skoehler 20.06.2010
+OMIM:151800 LIPOMATOSIS, FAMILIAL BENIGN CERVICAL HP:0012032 Lipoma TAS TAS Disease name contained:lipomatosis, familial beni OMIM:151800 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-164700.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-164700.tab 2015-01-26 10:03:07 UTC (rev 5275)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-164700.tab 2015-01-26 11:14:38 UTC (rev 5276)
@@ -7,4 +7,6 @@
OMIM:164700 OLIVOPONTOCEREBELLAR ATROPHY V HP:0002072 Chorea IEA IEA OMIM:164700 HPO Feb 17, 2009
OMIM:164700 OLIVOPONTOCEREBELLAR ATROPHY V HP:0008303 Olivary degeneration TAS TAS OMIM:164700 HPO:probinson Apr 13, 2013
OMIM:164700 OLIVOPONTOCEREBELLAR ATROPHY V HP:0001272 Cerebellar atrophy TAS TAS OMIM:164700 HPO:probinson Apr 13, 2013
-OMIM:164700 164700 OLIVOPONTOCEREBELLAR ATROPHY V; OPCA V;;OPCA WITH DEMENTIA AND EXTRAPYRAMIDAL SIGNS HP:0200147 Neuronal loss in basal ganglia TAS TAS OMIM:164700 HPO:skoehler Jun 13, 2013
+OMIM:164700 164700 OLIVOPONTOCEREBELLAR ATROPHY V; OPCA V;;OPCA WITH DEMENTIA AND EXTRAPYRAMIDAL SIGNS HP:0200147 Neuronal loss in basal ganglia TAS TAS OMIM:164700 HPO:skoehler Jun 13, 2013
+OMIM:164700 164700 OLIVOPONTOCEREBELLAR ATROPHY V; OPCA V;;OPCA WITH DEMENTIA AND EXTRAPYRAMIDAL SIGNS HP:0002542 Olivopontocerebellar atrophy TAS TAS Disease name contained:164700 olivopontocerebellar atrophy v; opca v;;opca wit OMIM:164700 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-200900.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-200900.tab 2015-01-26 10:03:07 UTC (rev 5275)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-200900.tab 2015-01-26 11:14:38 UTC (rev 5276)
@@ -5,4 +5,6 @@
OMIM:200900 ACHONDROPLASIA, SO-CALLED, AND SEVERE COMBINED IMMUNODEFICIENCY HP:0001888 Lymphopenia TAS TAS OMIM:200900 HPO:probinson Feb 17, 2009
OMIM:200900 ACHONDROPLASIA, SO-CALLED, AND SEVERE COMBINED IMMUNODEFICIENCY HP:0003819 Death in childhood TAS TAS OMIM:200900 HPO:probinson Feb 17, 2009
OMIM:200900 ACHONDROPLASIA, SO-CALLED, AND SEVERE COMBINED IMMUNODEFICIENCY HP:0004432 Agammaglobulinemia TAS TAS OMIM:200900 HPO:probinson Feb 17, 2009
-OMIM:200900 ACHONDROPLASIA, SO-CALLED, AND SEVERE COMBINED IMMUNODEFICIENCY HP:0005871 Metaphyseal chondrodysplasia TAS TAS OMIM:200900 HPO:probinson Feb 17, 2009
+OMIM:200900 ACHONDROPLASIA, SO-CALLED, AND SEVERE COMBINED IMMUNODEFICIENCY HP:0005871 Metaphyseal chondrodysplasia TAS TAS OMIM:200900 HPO:probinson Feb 17, 2009
+OMIM:200900 ACHONDROPLASIA, SO-CALLED, AND SEVERE COMBINED IMMUNODEFICIENCY HP:0004430 Severe combined immunodeficiency TAS TAS Disease name contained:id|achondroplasia - severe combined immunodeficiency|achondroplasia - sw OMIM:200900 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-209885.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-209885.tab 2015-01-26 10:03:07 UTC (rev 5275)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-209885.tab 2015-01-26 11:14:38 UTC (rev 5276)
@@ -20,4 +20,6 @@
OMIM:209885 %209885 BARBER-SAY SYNDROME;;HYPERTRICHOSIS, ATROPHIC SKIN, ECTROPION, AND MACROSTOMIA HP:0001249 Intellectual disability IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION (IN SOME PATIENTS) OMIM:209885 HPO:skoehler Oct 12, 2012
OMIM:209885 %209885 BARBER-SAY SYNDROME;;HYPERTRICHOSIS, ATROPHIC SKIN, ECTROPION, AND MACROSTOMIA HP:0000998 Hypertrichosis IEA IEA OMIM-CS:SKIN, NAILS, HAIR_HAIR > HYPERTRICHOSIS, GENERALIZED OMIM:209885 HPO:skoehler Oct 12, 2012
OMIM:209885 %209885 BARBER-SAY SYNDROME;;HYPERTRICHOSIS, ATROPHIC SKIN, ECTROPION, AND MACROSTOMIA HP:0000958 Dry skin IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > DRY SKIN OMIM:209885 HPO:skoehler Oct 12, 2012
-OMIM:209885 %209885 BARBER-SAY SYNDROME;;HYPERTRICHOSIS, ATROPHIC SKIN, ECTROPION, AND MACROSTOMIA HP:0001582 Redundant skin IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > REDUNDANT SKIN OMIM:209885 HPO:skoehler Oct 12, 2012
+OMIM:209885 %209885 BARBER-SAY SYNDROME;;HYPERTRICHOSIS, ATROPHIC SKIN, ECTROPION, AND MACROSTOMIA HP:0001582 Redundant skin IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > REDUNDANT SKIN OMIM:209885 HPO:skoehler Oct 12, 2012
+OMIM:209885 %209885 BARBER-SAY SYNDROME;;HYPERTRICHOSIS, ATROPHIC SKIN, ECTROPION, AND MACROSTOMIA HP:0004334 Dermal atrophy TAS TAS Disease name contained:me|hypertrichosis - atrophic skin - ectropion - macro OMIM:209885 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-218000.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-218000.tab 2015-01-26 10:03:07 UTC (rev 5275)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-218000.tab 2015-01-26 11:14:38 UTC (rev 5276)
@@ -45,3 +45,5 @@
MIM:218000 AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY MIM:604878 SOLUTE CARRIER FAMILY 12 (SODIUM/CHLORIDE TRANSPORTER), MEMBER 6 SLC12A6 HP:0007178 Motor polyneuropathy IEA IEA MIM:218000 HPO Apr 9, 2013
MIM:218000 AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY MIM:604878 SOLUTE CARRIER FAMILY 12 (SODIUM/CHLORIDE TRANSPORTER), MEMBER 6 SLC12A6 HP:0100807 Long fingers TAS TAS MIM:218000 HPO:probinson Apr 9, 2013
OMIM:218000 #218000 AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN;;CHARLEVOIX DISEASE;;ANDERMANN SYNDROME;;POLYNEUROPATHY, SENSORIMOTOR, WITH OR WITHOUT AGENESIS OF THE CORPUSCALLOSUM;;CORPUS CALLOSUM, AGENESIS OF, WITH NEURONOPATHY HP:0200085 Limb tremor IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > LIMB TREMOR OMIM:218000 HPO:skoehler 04.06.2013
+OMIM:218000 #218000 AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN;;CHARLEVOIX DISEASE;;ANDERMANN SYNDROME;;POLYNEUROPATHY, SENSORIMOTOR, WITH OR WITHOUT AGENESIS OF THE CORPUSCALLOSUM;;CORPUS CALLOSUM, AGENESIS OF, WITH NEURONOPATHY HP:0001271 Polyneuropathy TAS TAS Disease name contained:andermann syndrome;;polyneuropathy, sensorimotor, with OMIM:218000 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-260005.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-260005.tab 2015-01-26 10:03:07 UTC (rev 5275)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-260005.tab 2015-01-26 11:14:38 UTC (rev 5276)
@@ -6,3 +6,6 @@
OMIM:260005 5-@OXOPROLINASE DEFICIENCY HP:0002014 Diarrhea IEA IEA OMIM:260005 HPO 17.02.2009
OMIM:260005 5-@OXOPROLINASE DEFICIENCY HP:0002027 Abdominal pain IEA IEA OMIM:260005 HPO 17.02.2009
OMIM:260005 5-@OXOPROLINASE DEFICIENCY HP:0004387 Enterocolitis IEA IEA OMIM:260005 HPO 17.02.2009
+OMIM:260005 5-@OXOPROLINASE DEFICIENCY HP:0003137 Prolinuria TAS TAS Disease name contained:inase deficiency|oxoprolinuria due to oxoprolinase OMIM:260005 HPO:skoehler 21.01.2015
+OMIM:260005 5-@OXOPROLINASE DEFICIENCY HP:0040142 5-oxoprolinase deficiency TAS TAS Disease name contained:inase deficiency|oxoprolinuria due to oxoprolinase OMIM:260005 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-262500.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-262500.tab 2015-01-26 10:03:07 UTC (rev 5275)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-262500.tab 2015-01-26 11:14:38 UTC (rev 5276)
@@ -7,4 +7,6 @@
OMIM:262500 GROWTH HORMONE INSENSITIVITY SYNDROME HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:262500 HPO Feb 17, 2009
OMIM:262500 GROWTH HORMONE INSENSITIVITY SYNDROME HP:0002750 Delayed skeletal maturation TAS TAS OMIM:262500 HPO:probinson Dec 15, 2013
OMIM:262500 GROWTH HORMONE INSENSITIVITY SYNDROME HP:0003026 Short long bones HP:0003593 Infantile onset TAS TAS OMIM:262500 HPO:probinson Dec 15, 2013
-OMIM:262500 GROWTH HORMONE INSENSITIVITY SYNDROME HP:0012569 Delayed menarche TAS TAS OMIM:262500 HPO:probinson Jan 8, 2014
+OMIM:262500 GROWTH HORMONE INSENSITIVITY SYNDROME HP:0012569 Delayed menarche TAS TAS OMIM:262500 HPO:probinson Jan 8, 2014
+OMIM:262500 GROWTH HORMONE INSENSITIVITY SYNDROME HP:0003510 Severe short stature TAS TAS Disease name contained:syndrome|laron-type dwarfism|primary gh insensit OMIM:262500 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-272620.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-272620.tab 2015-01-26 10:03:07 UTC (rev 5275)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-272620.tab 2015-01-26 11:14:38 UTC (rev 5276)
@@ -1,3 +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:272620 TARDIVE DYSKINESIA HP:0000707 Neurological abnormality IEA IEA MIM:272620 HPO 17.02.2009
MIM:272620 TARDIVE DYSKINESIA HP:0000007 Autosomal recessive inheritance IEA IEA MIM:272620 HPO 17.02.2009
+OMIM:272620 TARDIVE DYSKINESIA HP:0040141 Tardive dyskinesia TAS TAS Disease name contained:tardive dyskinesia OMIM:272620 HPO:skoehler 26.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612541.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612541.tab 2015-01-26 10:03:07 UTC (rev 5275)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612541.tab 2015-01-26 11:14:38 UTC (rev 5276)
@@ -34,3 +34,5 @@
OMIM:612541 #612541 NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4DURSUN SYNDROME, INCLUDED;;PULMONARY ARTERIAL HYPERTENSION, LEUKOPENIA, AND ATRIAL SEPTAL DEFECT,INCLUDED HP:0012133 Erythroid hypoplasia IEA IEA OMIM-CS:HEMATOLOGY > ERYTHROID HYPOPLASIA IN THE BONE MARROW OMIM:612541 HPO:skoehler 13.06.2013
OMIM:612541 #612541 NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4DURSUN SYNDROME, INCLUDED;;PULMONARY ARTERIAL HYPERTENSION, LEUKOPENIA, AND ATRIAL SEPTAL DEFECT,INCLUDED HP:0012311 Monocytosis IEA IEA OMIM-CS:HEMATOLOGY > MONOCYTOSIS OMIM:612541 HPO:skoehler 18.08.2013
OMIM:612541 #612541 NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4DURSUN SYNDROME, INCLUDED;;PULMONARY ARTERIAL HYPERTENSION, LEUKOPENIA, AND ATRIAL SEPTAL DEFECT,INCLUDED HP:0030084 Clinodactyly IEA IEA OMIM-CS:SKELETAL_HANDS > CLINODACTYLY OMIM:612541 HPO:skoehler 21.09.2014
+OMIM:612541 #612541 NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4DURSUN SYNDROME, INCLUDED;;PULMONARY ARTERIAL HYPERTENSION, LEUKOPENIA, AND ATRIAL SEPTAL DEFECT,INCLUDED HP:0002092 Pulmonary hypertension TAS TAS Disease name contained:syndrome, included;;pulmonary arterial hypertension, leukopenia, and at OMIM:612541 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613672.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613672.tab 2015-01-26 10:03:07 UTC (rev 5275)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613672.tab 2015-01-26 11:14:38 UTC (rev 5276)
@@ -9,3 +9,5 @@
OMIM:613672 #613672 SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE; SPAX4 HP:0000712 Emotional lability IEA IEA rare OMIM-CS:NEUROLOGIC_BEHAVIORAL/PSYCHIATRIC MANIFESTATIONS > EMOTIONAL LABILITY (IN SOME) OMIM:613672 HPO:skoehler 18.11.2012
OMIM:613672 #613672 SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE; SPAX4 HP:0001265 Hyporeflexia HP:0003584 Late onset IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPOREFLEXIA (OCCURS LATER) OMIM:613672 HPO:skoehler 07.05.2013
OMIM:613672 #613672 SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE; SPAX4 HP:0000750 Delayed speech and language development IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED SPEECH OMIM:613672 HPO:skoehler 26.11.2014
+OMIM:613672 #613672 SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE; SPAX4 HP:0002497 Spastic ataxia TAS TAS Disease name contained:#613672 spastic ataxia 4, autosomal recess OMIM:613672 HPO:skoehler 26.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615592.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615592.tab 2015-01-26 10:03:07 UTC (rev 5275)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615592.tab 2015-01-26 11:14:38 UTC (rev 5276)
@@ -6,3 +6,5 @@
OMIM:615592 #615592 IMMUNODEFICIENCY 15; IMD15 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:615592 HPO:skoehler 06.02.2014
OMIM:615592 #615592 IMMUNODEFICIENCY 15; IMD15 HP:0003593 Infantile onset IEA IEA OMIM-CS:MISCELLANEOUS > ONSET IN INFANCY OMIM:615592 HPO:skoehler 06.02.2014
OMIM:615592 #615592 IMMUNODEFICIENCY 15; IMD15 HP:0011947 Respiratory tract infection IEA IEA OMIM-CS:RESPIRATORY > RESPIRATORY INFECTIONS OMIM:615592 HPO:skoehler 04.04.2014
+OMIM:615592 #615592 IMMUNODEFICIENCY 15; IMD15 HP:0002721 Immunodeficiency TAS TAS Disease name contained:#615592 immunodeficiency 15; imd15 OMIM:615592 HPO:skoehler 26.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615952.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615952.tab 2015-01-26 10:03:07 UTC (rev 5275)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615952.tab 2015-01-26 11:14:38 UTC (rev 5276)
@@ -9,3 +9,5 @@
OMIM:615952 #615952 AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET; ADMIO HP:0001369 Arthritis IEA IEA rare OMIM-CS:SKELETAL > ARTHRITIS (IN SOME PATIENTS) OMIM:615952 HPO:skoehler 06.10.2014
OMIM:615952 #615952 AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET; ADMIO HP:0000964 Eczema IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > DERMATITIS OMIM:615952 HPO:skoehler 06.10.2014
OMIM:615952 #615952 AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET; ADMIO HP:0000964 Eczema IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > ECZEMA OMIM:615952 HPO:skoehler 06.10.2014
+OMIM:615952 #615952 AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET; ADMIO HP:0002960 Autoimmunity TAS TAS Disease name contained:#615952 autoimmune disease, multisystem, infan OMIM:615952 HPO:skoehler 21.01.2015
+
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <koe...@us...> - 2015-01-26 10:03:11
|
Revision: 5275
http://sourceforge.net/p/obo/svn/5275
Author: koehlers
Date: 2015-01-26 10:03:07 +0000 (Mon, 26 Jan 2015)
Log Message:
-----------
added lung-edema annotation, see http://sourceforge.net/p/obo/human-phenotype-requests/387/
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-267450.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-267450.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-267450.tab 2015-01-23 19:05:08 UTC (rev 5274)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-267450.tab 2015-01-26 10:03:07 UTC (rev 5275)
@@ -10,4 +10,4 @@
OMIM:267450 RESPIRATORY DISTRESS SYNDROME IN PREMATURE INFANTS HP:0005521 Disseminated intravascular coagulation IEA IEA OMIM:267450 HPO 17.02.2009
OMIM:267450 #267450 RESPIRATORY DISTRESS SYNDROME IN PREMATURE INFANTS;;RDS OF PREMATURITY;;HYALINE MEMBRANE DISEASE, FORMERLY HP:0100750 Atelectasis IEA IEA OMIM-CS:RESPIRATORY_LUNG > ATELECTASIS OMIM:267450 HPO:skoehler 17.10.2012
OMIM:267450 #267450 RESPIRATORY DISTRESS SYNDROME IN PREMATURE INFANTS;;RDS OF PREMATURITY;;HYALINE MEMBRANE DISEASE, FORMERLY HP:0002098 Respiratory distress IEA IEA Disease name contained:#267450 respiratory distress syndrome in prematu OMIM:267450 HPO:skoehler 21.01.2015
-
+OMIM:267450 #267450 RESPIRATORY DISTRESS SYNDROME IN PREMATURE INFANTS;;RDS OF PREMATURITY;;HYALINE MEMBRANE DISEASE, FORMERLY HP:0100598 Pulmonary edema IEA IEA OMIM cs OMIM:267450 HPO:skoehler 26.01.2015
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <koe...@us...> - 2015-01-23 18:50:04
|
Revision: 5273
http://sourceforge.net/p/obo/svn/5273
Author: koehlers
Date: 2015-01-23 18:50:02 +0000 (Fri, 23 Jan 2015)
Log Message:
-----------
manual annotation additions
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-118650.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-150360.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-169400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-221750.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-250940.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-277320.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300510.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607602.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614739.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615041.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-118650.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-118650.tab 2015-01-23 17:12:08 UTC (rev 5272)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-118650.tab 2015-01-23 18:50:02 UTC (rev 5273)
@@ -11,4 +11,6 @@
OMIM:118650 CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANTCHONDRODYSPLASIA PUNCTATA DUE TO VITAMIN K DEFICIENCY, INCLUDED HP:0008070 Sparse hair IEA IEA OMIM:118650 HPO 17.02.2009
OMIM:118650 CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANTCHONDRODYSPLASIA PUNCTATA DUE TO VITAMIN K DEFICIENCY, INCLUDED HP:0008855 Moderate postnatal growth retardation IEA IEA OMIM:118650 HPO 17.02.2009
OMIM:118650 CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANTCHONDRODYSPLASIA PUNCTATA DUE TO VITAMIN K DEFICIENCY, INCLUDED HP:0010655 Epiphyseal stippling TAS TAS OMIM:118650 HPO:probinson 17.02.2009
-OMIM:118650 CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANTCHONDRODYSPLASIA PUNCTATA DUE TO VITAMIN K DEFICIENCY, INCLUDED HP:0002978 Knee contractures TAS TAS OMIM:118650 HPO:probinson 17.07.2012
+OMIM:118650 CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANTCHONDRODYSPLASIA PUNCTATA DUE TO VITAMIN K DEFICIENCY, INCLUDED HP:0002978 Knee contractures TAS TAS OMIM:118650 HPO:probinson 17.07.2012
+OMIM:118650 CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANTCHONDRODYSPLASIA PUNCTATA DUE TO VITAMIN K DEFICIENCY, INCLUDED HP:0011892 Vitamin K deficiency TAS TAS Disease name contained:sia punctata due to vitamin k deficiency, included OMIM:118650 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-150360.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-150360.tab 2015-01-23 17:12:08 UTC (rev 5272)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-150360.tab 2015-01-23 18:50:02 UTC (rev 5273)
@@ -4,3 +4,5 @@
MIM:150360 LARYNGEAL WEB, FAMILIAL HP:0002098 Respiratory distress TAS TAS MIM:150360 HPO:probinson 11.04.2012
MIM:150360 LARYNGEAL WEB, FAMILIAL HP:0010307 Stridor TAS TAS MIM:150360 HPO:probinson 11.04.2012
MIM:150360 LARYNGEAL WEB, FAMILIAL HP:0000006 Autosomal dominant inheritance TAS TAS MIM:150360 HPO:probinson 11.04.2012
+OMIM:150360 LARYNGEAL WEB, FAMILIAL HP:0005950 Laryngeal web TAS TAS Disease name contained: familialcongenital laryngeal web|http://www.orpha.ne OMIM:150360 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-169400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-169400.tab 2015-01-23 17:12:08 UTC (rev 5272)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-169400.tab 2015-01-23 18:50:02 UTC (rev 5273)
@@ -32,4 +32,6 @@
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
+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
+OMIM:169400 PELGER-HUET ANOMALY HP:0011447 Hyposegmentation of neutrophil nuclei TAS TAS Disease name contained:pelger-huet anomaly OMIM:169400 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-221750.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-221750.tab 2015-01-23 17:12:08 UTC (rev 5272)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-221750.tab 2015-01-23 18:50:02 UTC (rev 5273)
@@ -7,4 +7,6 @@
OMIM:221750 DEAFNESS, SENSORINEURAL, WITH PITUITARY DWARFISM HP:0004322 Short stature IEA IEA OMIM:221750 HPO:skoehler Jun 20, 2010
OMIM:221750 DEAFNESS, SENSORINEURAL, WITH PITUITARY DWARFISM HP:0008192 Gonadotropin deficiency IEA IEA OMIM:221750 HPO Feb 17, 2009
OMIM:221750 DEAFNESS, SENSORINEURAL, WITH PITUITARY DWARFISM HP:0008238 Anterior pituitary hypoplasia IEA IEA OMIM:221750 HPO:skoehler Jun 18, 2010
-OMIM:221750 DEAFNESS, SENSORINEURAL, WITH PITUITARY DWARFISM HP:0000407 Sensorineural hearing impairment TAS TAS OMIM:221750 HPO:skoehler Mar 14, 2013
+OMIM:221750 DEAFNESS, SENSORINEURAL, WITH PITUITARY DWARFISM HP:0000407 Sensorineural hearing impairment TAS TAS OMIM:221750 HPO:skoehler Mar 14, 2013
+OMIM:221750 DEAFNESS, SENSORINEURAL, WITH PITUITARY DWARFISM HP:0000839 Pituitary dwarfism TAS TAS Disease name contained:sensorineural, with pituitary dwarfismnon-acquired combine OMIM:221750 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-250940.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-250940.tab 2015-01-23 17:12:08 UTC (rev 5272)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-250940.tab 2015-01-23 18:50:02 UTC (rev 5273)
@@ -20,3 +20,5 @@
OMIM:250940 #250940 HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE; HMAG;;HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM,cblG COMPLEMENTATION TYPE;;METHYLCOBALAMIN DEFICIENCY, cblG TYPE;;METHIONINE SYNTHASE DEFICIENCY HP:0001250 Seizures TAS TAS OMIM:250940 HPO:skoehler Oct 6, 2013
OMIM:250940 #250940 HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE; HMAG;;HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM,cblG COMPLEMENTATION TYPE;;METHYLCOBALAMIN DEFICIENCY, cblG TYPE;;METHIONINE SYNTHASE DEFICIENCY HP:0001252 Muscular hypotonia IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > HYPOTONIA OMIM:250940 HPO:skoehler 26.11.2014
OMIM:250940 #250940 HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE; HMAG;;HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM,cblG COMPLEMENTATION TYPE;;METHYLCOBALAMIN DEFICIENCY, cblG TYPE;;METHIONINE SYNTHASE DEFICIENCY HP:0001252 Muscular hypotonia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPOTONIA OMIM:250940 HPO:skoehler 26.11.2014
+OMIM:250940 #250940 HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE; HMAG;;HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM,CBLG COMPLEMENTATION TYPE;;METHYLCOBALAMIN DEFICIENCY, CBLG TYPE;;METHIONINE SYNTHASE DEFICIENCY HP:0003524 Decreased methionine synthase activity TAS TAS Disease name contained:iciency, cblg type;;methionine synthase deficiency OMIM:250940 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-277320.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-277320.tab 2015-01-23 17:12:08 UTC (rev 5272)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-277320.tab 2015-01-23 18:50:02 UTC (rev 5273)
@@ -8,4 +8,6 @@
OMIM:277320 VISCERAL MYOPATHY, FAMILIAL, WITH EXTERNAL OPHTHALMOPLEGIA HP:0003270 Abdominal distention IEA IEA OMIM:277320 HPO Feb 17, 2009
OMIM:277320 VISCERAL MYOPATHY, FAMILIAL, WITH EXTERNAL OPHTHALMOPLEGIA HP:0004395 Malnutrition IEA IEA OMIM:277320 HPO Feb 17, 2009
OMIM:277320 VISCERAL MYOPATHY, FAMILIAL, WITH EXTERNAL OPHTHALMOPLEGIA HP:0005203 Spontaneous esophageal perforation IEA IEA OMIM:277320 HPO Feb 17, 2009
-OMIM:277320 VISCERAL MYOPATHY, FAMILIAL, WITH EXTERNAL OPHTHALMOPLEGIA HP:0009830 Peripheral neuropathy IEA IEA OMIM:277320 HPO:skoehler Jun 20, 2010
+OMIM:277320 VISCERAL MYOPATHY, FAMILIAL, WITH EXTERNAL OPHTHALMOPLEGIA HP:0009830 Peripheral neuropathy IEA IEA OMIM:277320 HPO:skoehler Jun 20, 2010
+OMIM:277320 VISCERAL MYOPATHY, FAMILIAL, WITH EXTERNAL OPHTHALMOPLEGIA HP:0000544 External ophthalmoplegia TAS TAS Disease name contained:myopathy - familial external ophthalmoplegia|http://www.orpha.ne OMIM:277320 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300510.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300510.tab 2015-01-23 17:12:08 UTC (rev 5272)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300510.tab 2015-01-23 18:50:02 UTC (rev 5273)
@@ -4,4 +4,6 @@
OMIM:300510 #300510 OVARIAN DYSGENESIS 2; ODG2;;OVARIAN DYSGENESIS, HYPERGONADOTROPIC, X-LINKED;;OVARIAN FAILURE, HYPERGONADOTROPIC, DUE TO OVARIAN DYSGENESISPREMATURE OVARIAN FAILURE 4, INCLUDED; POF4, INCLUDED HP:0000786 Primary amenorrhea IEA IEA OMIM:300510 HPO:skoehler Jan 9, 2013
OMIM:300510 #300510 OVARIAN DYSGENESIS 2; ODG2;;OVARIAN DYSGENESIS, HYPERGONADOTROPIC, X-LINKED;;OVARIAN FAILURE, HYPERGONADOTROPIC, DUE TO OVARIAN DYSGENESISPREMATURE OVARIAN FAILURE 4, INCLUDED; POF4, INCLUDED HP:0001007 Hirsutism IEA IEA OMIM:300510 HPO:skoehler Jan 9, 2013
OMIM:300510 #300510 OVARIAN DYSGENESIS 2; ODG2;;OVARIAN DYSGENESIS, HYPERGONADOTROPIC, X-LINKED;;OVARIAN FAILURE, HYPERGONADOTROPIC, DUE TO OVARIAN DYSGENESISPREMATURE OVARIAN FAILURE 4, INCLUDED; POF4, INCLUDED HP:0000130 Abnormality of the uterus IEA IEA OMIM:300510 HPO:skoehler Jan 9, 2013
-OMIM:300510 #300510 OVARIAN DYSGENESIS 2; ODG2;;OVARIAN DYSGENESIS, HYPERGONADOTROPIC, X-LINKED;;OVARIAN FAILURE, HYPERGONADOTROPIC, DUE TO OVARIAN DYSGENESISPREMATURE OVARIAN FAILURE 4, INCLUDED; POF4, INCLUDED HP:0008639 Gonadal hypoplasia IEA IEA OMIM:300510 HPO:skoehler Jan 9, 2013
+OMIM:300510 #300510 OVARIAN DYSGENESIS 2; ODG2;;OVARIAN DYSGENESIS, HYPERGONADOTROPIC, X-LINKED;;OVARIAN FAILURE, HYPERGONADOTROPIC, DUE TO OVARIAN DYSGENESISPREMATURE OVARIAN FAILURE 4, INCLUDED; POF4, INCLUDED HP:0008639 Gonadal hypoplasia IEA IEA OMIM:300510 HPO:skoehler Jan 9, 2013
+OMIM:300510 #300510 OVARIAN DYSGENESIS 2; ODG2;;OVARIAN DYSGENESIS, HYPERGONADOTROPIC, X-LINKED;;OVARIAN FAILURE, HYPERGONADOTROPIC, DUE TO OVARIAN DYSGENESISPREMATURE OVARIAN FAILURE 4, INCLUDED; POF4, INCLUDED HP:0008209 Premature ovarian failure TAS TAS Disease name contained:o ovarian dysgenesispremature ovarian failure 4, included; pof4, OMIM:300510 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607602.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607602.tab 2015-01-23 17:12:08 UTC (rev 5272)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607602.tab 2015-01-23 18:50:02 UTC (rev 5273)
@@ -4,4 +4,6 @@
OMIM:607602 ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS HP:0001595 Abnormality of the hair TAS TAS NOT NOT OMIM:607602 HPO:probinson Feb 17, 2009
OMIM:607602 ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS HP:0001597 Abnormality of the nail TAS TAS NOT NOT OMIM:607602 HPO:probinson Feb 17, 2009
OMIM:607602 ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS HP:0010783 Erythema TAS TAS OMIM:607602 HPO:skoehler Jun 20, 2010
-OMIM:607602 ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS HP:0008064 Ichthyosis TAS TAS OMIM:607602 HPO:probinson Dec 16, 2013
+OMIM:607602 ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS HP:0008064 Ichthyosis TAS TAS OMIM:607602 HPO:probinson Dec 16, 2013
+OMIM:607602 ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS HP:0007475 Congenital bullous ichthyosiform erythroderma TAS TAS Disease name contained:yosis, cyclic, with epidermolytic hyperkeratosis OMIM:607602 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614739.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614739.tab 2015-01-23 17:12:08 UTC (rev 5272)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614739.tab 2015-01-23 18:50:02 UTC (rev 5273)
@@ -20,3 +20,5 @@
OMIM:614739 #614739 3-@METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKESYNDROME; MEGDEL HP:0012444 Brain atrophy IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > BRAIN ATROPHY OMIM:614739 HPO:skoehler 28.11.2013
OMIM:614739 #614739 3-@METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKESYNDROME; MEGDEL HP:0001987 Hyperammonemia IEA IEA OMIM-CS:LABORATORY ABNORMALITIES > HYPERAMMONEMIA OMIM:614739 HPO:skoehler 28.01.2014
OMIM:614739 #614739 3-@METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKESYNDROME; MEGDEL HP:0001252 Muscular hypotonia IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > HYPOTONIA OMIM:614739 HPO:skoehler 26.11.2014
+OMIM:614739 #614739 3-@METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKESYNDROME; MEGDEL HP:0001298 Encephalopathy TAS TAS Disease name contained:uria with deafness, encephalopathy, and leigh-likesynd OMIM:614739 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615041.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615041.tab 2015-01-23 17:12:08 UTC (rev 5272)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615041.tab 2015-01-23 18:50:02 UTC (rev 5273)
@@ -5,3 +5,5 @@
OMIM:615041 #615041 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 10; MDDGA10 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:615041 HPO:skoehler 25.02.2013
OMIM:615041 #615041 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 10; MDDGA10 HP:0007033 Cerebellar dysplasia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR DYSPLASIA OMIM:615041 HPO:skoehler 25.02.2013
OMIM:615041 #615041 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 10; MDDGA10 HP:0007260 Type II lissencephaly IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > COBBLESTONE LISSENCEPHALY OMIM:615041 HPO:skoehler 25.02.2013
+OMIM:615041 #615041 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 10; MDDGA10 HP:0003560 Muscular dystrophy TAS TAS Disease name contained:#615041 muscular dystrophy-dystroglycanopathy OMIM:615041 HPO:skoehler 21.01.2015
+
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <koe...@us...> - 2015-01-23 17:12:11
|
Revision: 5272
http://sourceforge.net/p/obo/svn/5272
Author: koehlers
Date: 2015-01-23 17:12:08 +0000 (Fri, 23 Jan 2015)
Log Message:
-----------
added manually curated annotation
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-181350.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-183849.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184100.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300915.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600361.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601027.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609161.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609195.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613881.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615325.tab
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606864.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-181350.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-181350.tab 2015-01-23 13:18:21 UTC (rev 5271)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-181350.tab 2015-01-23 17:12:08 UTC (rev 5272)
@@ -21,3 +21,5 @@
OMIM:181350 #181350 EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT; EDMD2;;EMD2;;EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT;;SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY;;MUSCULAR DYSTROPHY WITH EARLY CONTRACTURES AND CARDIOMYOPATHY, AUTOSOMALDOMINANT;;HAUPTMANN-THANNHAUSER MUSCULAR DYSTROPHYEMERY-DREIFUSS MUSCULAR DYSTROPHY, ATYPICAL, AUTOSOMAL RECESSIVE,INCLUDED;;EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE, INCLUDED;EDMD3, INCLUDED HP:0006785 Limb-girdle muscular dystrophy IEA IEA OMIM-CS:MISCELLANEOUS > LIMB-GIRDLE MUSCULAR DYSTROPHY 1B (LGMD1B, 159001) IS AN ALLELIC OMIM:181350 HPO:skoehler 22.01.2013
OMIM:181350 #181350 EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT; EDMD2;;EMD2;;EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT;;SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY;;MUSCULAR DYSTROPHY WITH EARLY CONTRACTURES AND CARDIOMYOPATHY, AUTOSOMALDOMINANT;;HAUPTMANN-THANNHAUSER MUSCULAR DYSTROPHYEMERY-DREIFUSS MUSCULAR DYSTROPHY, ATYPICAL, AUTOSOMAL RECESSIVE,INCLUDED;;EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE, INCLUDED;EDMD3, INCLUDED HP:0001417 X-linked inheritance IEA IEA OMIM-CS:MISCELLANEOUS > SEE ALSO X-LINKED EDMD (310300) OMIM:181350 HPO:skoehler 22.01.2013
OMIM:181350 #181350 EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT; EDMD2;;EMD2;;EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT;;SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY;;MUSCULAR DYSTROPHY WITH EARLY CONTRACTURES AND CARDIOMYOPATHY, AUTOSOMALDOMINANT;;HAUPTMANN-THANNHAUSER MUSCULAR DYSTROPHYEMERY-DREIFUSS MUSCULAR DYSTROPHY, ATYPICAL, AUTOSOMAL RECESSIVE,INCLUDED;;EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE, INCLUDED;EDMD3, INCLUDED HP:0003690 Limb muscle weakness IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > DISTAL LOWER LIMB MUSCLE WEAKNESS AND ATROPHY OMIM:181350 HPO:skoehler 22.01.2013
+OMIM:181350 #181350 EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT; EDMD2;;EMD2;;EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT;;SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY;;MUSCULAR DYSTROPHY WITH EARLY CONTRACTURES AND CARDIOMYOPATHY, AUTOSOMALDOMINANT;;HAUPTMANN-THANNHAUSER MUSCULAR DYSTROPHYEMERY-DREIFUSS MUSCULAR DYSTROPHY, ATYPICAL, AUTOSOMAL RECESSIVE,INCLUDED;;EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE, INCLUDED;EDMD3, INCLUDED HP:0003560 Muscular dystrophy TAS TAS Disease name contained:md2;;emery-dreifuss muscular dystrophy, autosomal dominant OMIM:181350 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-183849.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-183849.tab 2015-01-23 13:18:21 UTC (rev 5271)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-183849.tab 2015-01-23 17:12:08 UTC (rev 5272)
@@ -15,3 +15,5 @@
OMIM:183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS HP:0006599 Medial widening of clavicles IEA IEA OMIM:183849 HPO 17.02.2009
OMIM:183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS HP:0008905 Rhizomelic short stature IEA IEA OMIM:183849 HPO 17.02.2009
OMIM:183849 183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS;;WHYTE SYNDROME HP:0004566 Pear-shaped vertebrae IEA IEA OMIM-CS:SKELETAL_SPINE > PEAR-SHAPED VERTEBRAL BODIES OMIM:183849 HPO:skoehler 17.10.2012
+OMIM:183849 183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS;;WHYTE SYNDROME HP:0002651 Spondyloepimetaphyseal dysplasia TAS TAS Disease name contained:183849 spondyloepimetaphyseal dysplasia with hypotrichosis; OMIM:183849 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184100.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184100.tab 2015-01-23 13:18:21 UTC (rev 5271)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184100.tab 2015-01-23 17:12:08 UTC (rev 5272)
@@ -12,5 +12,6 @@
OMIM:184100 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL DOMINANT HP:0005743 Avascular necrosis of the capital femoral epiphysis IEA IEA OMIM:184100 HPO 17.02.2009
OMIM:184100 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL DOMINANT HP:0008922 Childhood-onset short-trunk short stature IEA IEA OMIM:184100 HPO 17.02.2009
OMIM:184100 %184100 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL DOMINANT HP:0001369 Arthritis IEA IEA OMIM-CS:SKELETAL_LIMBS > ARTHRITIS OMIM:184100 HPO:skoehler 21.09.2014
-OMIM:184100 %184100 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL DOMINANT HP:0001369 Arthritis IEA IEA OMIM-CS:SKELETAL_SPINE > ARTHRITIS OMIM:184100 HPO:skoehler 21.09.2014
OMIM:184100 %184100 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL DOMINANT HP:0003301 Irregular vertebral endplates IEA IEA OMIM-CS:SKELETAL_SPINE > IRREGULAR END PLATES OMIM:184100 HPO:skoehler 21.09.2014
+OMIM:184100 %184100 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL DOMINANT HP:0002655 Spondyloepiphyseal dysplasia TAS TAS Disease name contained:%184100 spondyloepiphyseal dysplasia tarda, autosomal dominant OMIM:184100 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300915.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300915.tab 2015-01-23 13:18:21 UTC (rev 5271)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300915.tab 2015-01-23 17:12:08 UTC (rev 5272)
@@ -11,3 +11,6 @@
OMIM:300915 %300915 MICROPHTHALMIA, SYNDROMIC 13; MCOPS13;;MAINE MICROPHTHALMOS;;COLOBOMATOUS MICROPHTHALMIA WITH MICROCEPHALY, SHORT STATURE, ANDPSYCHOMOTOR RETARDATION HP:0000252 Microcephaly IEA IEA OMIM-CS:SKELETAL_SKULL > MICROCEPHALY OMIM:300915 HPO:skoehler 06.02.2014
OMIM:300915 %300915 MICROPHTHALMIA, SYNDROMIC 13; MCOPS13;;MAINE MICROPHTHALMOS;;COLOBOMATOUS MICROPHTHALMIA WITH MICROCEPHALY, SHORT STATURE, ANDPSYCHOMOTOR RETARDATION HP:0002751 Kyphoscoliosis IEA IEA rare OMIM-CS:SKELETAL_SPINE > KYPHOSCOLIOSIS (RARE) OMIM:300915 HPO:skoehler 06.02.2014
OMIM:300915 #300915 MICROPHTHALMIA, SYNDROMIC 13; MCOPS13;;MAINE MICROPHTHALMOS;;COLOBOMATOUS MICROPHTHALMIA WITH MICROCEPHALY, SHORT STATURE, ANDPSYCHOMOTOR RETARDATION HP:0040080 Anteverted ears IEA IEA OMIM-CS:HEAD AND NECK_MICROCEPHALY EARS > ANTEVERTED EARS OMIM:300915 HPO:skoehler 26.11.2014
+OMIM:300915 #300915 MICROPHTHALMIA, SYNDROMIC 13; MCOPS13;;MAINE MICROPHTHALMOS;;COLOBOMATOUS MICROPHTHALMIA WITH MICROCEPHALY, SHORT STATURE, ANDPSYCHOMOTOR RETARDATION HP:0001263 Global developmental delay TAS TAS Disease name contained:, short stature, andpsychomotor retardation OMIM:300915 HPO:skoehler 21.01.2015
+OMIM:300915 #300915 MICROPHTHALMIA, SYNDROMIC 13; MCOPS13;;MAINE MICROPHTHALMOS;;COLOBOMATOUS MICROPHTHALMIA WITH MICROCEPHALY, SHORT STATURE, ANDPSYCHOMOTOR RETARDATION HP:0000589 Coloboma TAS TAS Disease name contained:ine microphthalmos;;colobomatous microphthalmia OMIM:300915 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600361.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600361.tab 2015-01-23 13:18:21 UTC (rev 5271)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600361.tab 2015-01-23 17:12:08 UTC (rev 5272)
@@ -20,4 +20,5 @@
OMIM:600361 %600361 HEREDITARY MOTOR AND SENSORY NEUROPATHY V;;HMSN V;;HMSN5;;PERONEAL MUSCULAR ATROPHY WITH PYRAMIDAL FEATURES, AUTOSOMAL DOMINANT;;CHARCOT-MARIE-TOOTH DISEASE WITH PYRAMIDAL FEATURES, AUTOSOMAL DOMINANT;;CHARCOT-MARIE-TOOTH NEUROPATHY WITH PYRAMIDAL FEATURES, AUTOSOMALDOMINANT;;CMT WITH PYRAMIDAL FEATURES HP:0001257 Spasticity IEA IEA occasional OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SPASTICITY MAY BE PRESENT OMIM:600361 HPO:skoehler Nov 20, 2012
OMIM:600361 %600361 HEREDITARY MOTOR AND SENSORY NEUROPATHY V;;HMSN V;;HMSN5;;PERONEAL MUSCULAR ATROPHY WITH PYRAMIDAL FEATURES, AUTOSOMAL DOMINANT;;CHARCOT-MARIE-TOOTH DISEASE WITH PYRAMIDAL FEATURES, AUTOSOMAL DOMINANT;;CHARCOT-MARIE-TOOTH NEUROPATHY WITH PYRAMIDAL FEATURES, AUTOSOMALDOMINANT;;CMT WITH PYRAMIDAL FEATURES HP:0003690 Limb muscle weakness IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > DISTAL LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY OMIM:600361 HPO:skoehler Nov 20, 2012
OMIM:600361 %600361 HEREDITARY MOTOR AND SENSORY NEUROPATHY V;;HMSN V;;HMSN5;;PERONEAL MUSCULAR ATROPHY WITH PYRAMIDAL FEATURES, AUTOSOMAL DOMINANT;;CHARCOT-MARIE-TOOTH DISEASE WITH PYRAMIDAL FEATURES, AUTOSOMAL DOMINANT;;CHARCOT-MARIE-TOOTH NEUROPATHY WITH PYRAMIDAL FEATURES, AUTOSOMALDOMINANT;;CMT WITH PYRAMIDAL FEATURES HP:0003477 Peripheral axonal neuropathy IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > NERVE BIOPSY OFTEN CONSISTENT WITH AXONAL NEUROPATHY OMIM:600361 HPO:skoehler Nov 20, 2012
-OMIM:600361 %600361 HEREDITARY MOTOR AND SENSORY NEUROPATHY V;;HMSN V;;HMSN5;;PERONEAL MUSCULAR ATROPHY WITH PYRAMIDAL FEATURES, AUTOSOMAL DOMINANT;;CHARCOT-MARIE-TOOTH DISEASE WITH PYRAMIDAL FEATURES, AUTOSOMAL DOMINANT;;CHARCOT-MARIE-TOOTH NEUROPATHY WITH PYRAMIDAL FEATURES, AUTOSOMALDOMINANT;;CMT WITH PYRAMIDAL FEATURES HP:0003581 Adult onset IEA IEA OMIM-CS:MISCELLANEOUS > VARIABLE AGE OF ONSET (RANGE 4 TO 47 YEARS) OMIM:600361 HPO:skoehler Nov 20, 2012
+OMIM:600361 %600361 HEREDITARY MOTOR AND SENSORY NEUROPATHY V;;HMSN V;;HMSN5;;PERONEAL MUSCULAR ATROPHY WITH PYRAMIDAL FEATURES, AUTOSOMAL DOMINANT;;CHARCOT-MARIE-TOOTH DISEASE WITH PYRAMIDAL FEATURES, AUTOSOMAL DOMINANT;;CHARCOT-MARIE-TOOTH NEUROPATHY WITH PYRAMIDAL FEATURES, AUTOSOMALDOMINANT;;CMT WITH PYRAMIDAL FEATURES HP:0003581 Adult onset IEA IEA OMIM-CS:MISCELLANEOUS > VARIABLE AGE OF ONSET (RANGE 4 TO 47 YEARS) OMIM:600361 HPO:skoehler Nov 20, 2012
+OMIM:600361 %600361 HEREDITARY MOTOR AND SENSORY NEUROPATHY V;;HMSN V;;HMSN5;;PERONEAL MUSCULAR ATROPHY WITH PYRAMIDAL FEATURES, AUTOSOMAL DOMINANT;;CHARCOT-MARIE-TOOTH DISEASE WITH PYRAMIDAL FEATURES, AUTOSOMAL DOMINANT;;CHARCOT-MARIE-TOOTH NEUROPATHY WITH PYRAMIDAL FEATURES, AUTOSOMALDOMINANT;;CMT WITH PYRAMIDAL FEATURES HP:0000763 Sensory neuropathy TAS TAS Disease name contained:ereditary motor and sensory neuropathy v;;hmsn v;;hmsn5;;p OMIM:600361 HPO:skoehler 21.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601027.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601027.tab 2015-01-23 13:18:21 UTC (rev 5271)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601027.tab 2015-01-23 17:12:08 UTC (rev 5272)
@@ -7,7 +7,10 @@
OMIM:601027 TIBIA, ABSENCE OR HYPOPLASIA OF, WITH POLYDACTYLY, RETROCEREBELLARARACHNOID CYST, AND OTHER ANOMALIES HP:0001841 Preaxial polydactyly of foot IEA IEA OMIM:601027 HPO Feb 17, 2009
OMIM:601027 TIBIA, ABSENCE OR HYPOPLASIA OF, WITH POLYDACTYLY, RETROCEREBELLARARACHNOID CYST, AND OTHER ANOMALIES HP:0002190 Choroid plexus cyst IEA IEA OMIM:601027 HPO Feb 17, 2009
OMIM:601027 TIBIA, ABSENCE OR HYPOPLASIA OF, WITH POLYDACTYLY, RETROCEREBELLARARACHNOID CYST, AND OTHER ANOMALIES HP:0002986 Radial bowing TAS TAS OMIM:601027 HPO:skoehler Jun 20, 2010
-OMIM:601027 TIBIA, ABSENCE OR HYPOPLASIA OF, WITH POLYDACTYLY, RETROCEREBELLARARACHNOID CYST, AND OTHER ANOMALIES HP:0005736 Hypoplastic tibia TAS TAS OMIM:601027 HPO:skoehler Jun 20, 2010
OMIM:601027 TIBIA, ABSENCE OR HYPOPLASIA OF, WITH POLYDACTYLY, RETROCEREBELLARARACHNOID CYST, AND OTHER ANOMALIES HP:0007291 Posterior fossa cyst IEA IEA OMIM:601027 HPO Feb 17, 2009
OMIM:601027 TIBIA, ABSENCE OR HYPOPLASIA OF, WITH POLYDACTYLY, RETROCEREBELLARARACHNOID CYST, AND OTHER ANOMALIES HP:0001830 Postaxial polydactyly of foot TAS TAS OMIM:601027 HPO:probinson Apr 5, 2013
-OMIM:601027 TIBIA, ABSENCE OR HYPOPLASIA OF, WITH POLYDACTYLY, RETROCEREBELLARARACHNOID CYST, AND OTHER ANOMALIES HP:0001841 Preaxial polydactyly of foot TAS TAS OMIM:601027 HPO:probinson Apr 5, 2013
+OMIM:601027 TIBIA, ABSENCE OR HYPOPLASIA OF, WITH POLYDACTYLY, RETROCEREBELLARARACHNOID CYST, AND OTHER ANOMALIES HP:0001841 Preaxial polydactyly of foot TAS TAS OMIM:601027 HPO:probinson Apr 5, 2013
+OMIM:601027 TIBIA, ABSENCE OR HYPOPLASIA OF, WITH POLYDACTYLY, RETROCEREBELLARARACHNOID CYST, AND OTHER ANOMALIES HP:0100702 Arachnoid cyst TAS TAS Disease name contained:bia - polydactyly - arachnoid cyst|holmes-collins synd OMIM:601027 HPO:skoehler 21.01.2015
+OMIM:601027 TIBIA, ABSENCE OR HYPOPLASIA OF, WITH POLYDACTYLY, RETROCEREBELLARARACHNOID CYST, AND OTHER ANOMALIES HP:0005772 Aplasia/Hypoplasia of the tibia TAS TAS Disease name contained: and other anomaliesabsent tibia - polydactyly - ara OMIM:601027 HPO:skoehler 21.01.2015
+
+
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606864.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606864.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606864.tab 2015-01-23 17:12:08 UTC (rev 5272)
@@ -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:606864 CARNEY-STRATAKIS SYNDROME HP:0002668 Paraganglioma TAS TAS Disease name contained:-paraganglioma dyad|paraganglioma and gastric stromal OMIM:606864 HPO:skoehler 21.01.2015
+OMIM:606864 CARNEY-STRATAKIS SYNDROME HP:0007378 Neoplasm of the gastrointestinal tract TAS TAS Disease name contained:-paraganglioma dyad|paraganglioma and gastric stromal OMIM:606864 HPO:skoehler 21.01.2015
+
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609161.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609161.tab 2015-01-23 13:18:21 UTC (rev 5271)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609161.tab 2015-01-23 17:12:08 UTC (rev 5272)
@@ -11,3 +11,5 @@
OMIM:609161 STRIATAL DEGENERATION, AUTOSOMAL DOMINANT HP:0007245 Brisk lower extremity reflexes IEA IEA OMIM:609161 HPO Feb 17, 2009
OMIM:609161 STRIATAL DEGENERATION, AUTOSOMAL DOMINANT HP:0001337 Tremor IEA IEA NOT NOT OMIM:609161 HPO:skoehler Jun 18, 2010
OMIM:609161 #609161 STRIATAL DEGENERATION, AUTOSOMAL DOMINANT; ADSD HP:0001337 Tremor IEA IEA NOT NOT OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > NO TREMOR OMIM:609161 HPO:skoehler 30.05.2013
+OMIM:609161 #609161 STRIATAL DEGENERATION, AUTOSOMAL DOMINANT; ADSD HP:0040140 Degeneration of the striatum TAS TAS Disease name contained:l dominant striatal neurodegeneration|http://www.orpha.ne OMIM:609161 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609195.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609195.tab 2015-01-23 13:18:21 UTC (rev 5271)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609195.tab 2015-01-23 17:12:08 UTC (rev 5272)
@@ -24,3 +24,5 @@
OMIM:609195 #609195 SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE; SPG26 HP:0001332 Dystonia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DYSTONIA OMIM:609195 HPO:skoehler 06.10.2013
OMIM:609195 #609195 SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE; SPG26 HP:0002650 Scoliosis IEA IEA OMIM-CS:SKELETAL_SPINE > SCOLIOSIS OMIM:609195 HPO:skoehler 06.10.2013
OMIM:609195 #609195 SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE; SPG26 HP:0040083 Toe walking IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > TOE-WALKING OMIM:609195 HPO:skoehler 27.11.2014
+OMIM:609195 #609195 SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE; SPG26 HP:0001258 Spastic paraplegia TAS TAS Disease name contained:#609195 spastic paraplegia 26, autosomal reces OMIM:609195 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613881.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613881.tab 2015-01-23 13:18:21 UTC (rev 5271)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613881.tab 2015-01-23 17:12:08 UTC (rev 5272)
@@ -1,3 +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:613881 #613881 CARDIOMYOPATHY, DILATED, 1HH; CMD1HH HP:0001635 Congestive heart failure IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > HEART FAILURE OMIM:613881 HPO:skoehler 17.10.2012
OMIM:613881 #613881 CARDIOMYOPATHY, DILATED, 1HH; CMD1HH HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT OMIM:613881 HPO:skoehler 17.10.2012
+OMIM:613881 #613881 CARDIOMYOPATHY, DILATED, 1HH; CMD1HH HP:0001644 Dilated cardiomyopathy TAS TAS Disease name contained:#613881 cardiomyopathy, dilated, 1hh; cmd1hh OMIM:613881 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615325.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615325.tab 2015-01-23 13:18:21 UTC (rev 5271)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615325.tab 2015-01-23 17:12:08 UTC (rev 5272)
@@ -4,3 +4,5 @@
OMIM:615325 #615325 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R; LGMD2R HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:615325 HPO:skoehler 10.09.2013
OMIM:615325 #615325 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R; LGMD2R HP:0003676 Progressive disorder IEA IEA OMIM-CS:MISCELLANEOUS > PROGRESSIVE DISORDER OMIM:615325 HPO:skoehler 10.09.2013
OMIM:615325 #615325 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R; LGMD2R HP:0002987 Elbow flexion contracture IEA IEA OMIM-CS:SKELETAL_LIMBS > ELBOW CONTRACTURES OMIM:615325 HPO:skoehler 10.09.2013
+OMIM:615325 #615325 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R; LGMD2R HP:0003560 Muscular dystrophy TAS TAS Disease name contained:#615325 muscular dystrophy, limb-girdle, type OMIM:615325 HPO:skoehler 21.01.2015
+
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <koe...@us...> - 2015-01-23 13:18:23
|
Revision: 5271
http://sourceforge.net/p/obo/svn/5271
Author: koehlers
Date: 2015-01-23 13:18:21 +0000 (Fri, 23 Jan 2015)
Log Message:
-----------
added manually curated annotation
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609069.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609069.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609069.tab 2015-01-23 13:13:36 UTC (rev 5270)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609069.tab 2015-01-23 13:18:21 UTC (rev 5271)
@@ -13,3 +13,5 @@
OMIM:609069 #609069 PANCREATIC AND CEREBELLAR AGENESIS; PACA;;DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS HP:0001250 Seizures IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES OMIM:609069 HPO:skoehler 24.08.2014
OMIM:609069 #609069 PANCREATIC AND CEREBELLAR AGENESIS; PACA;;DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS HP:0001387 Joint stiffness IEA IEA OMIM-CS:SKELETAL > JOINT STIFFNESS OMIM:609069 HPO:skoehler 24.08.2014
OMIM:609069 #609069 PANCREATIC AND CEREBELLAR AGENESIS; PACA;;DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS HP:0010557 Overlapping fingers IEA IEA rare OMIM-CS:SKELETAL_HANDS > OVERLAPPING FINGERS (IN SOME PATIENTS) OMIM:609069 HPO:skoehler 24.08.2014
+OMIM:609069 #609069 PANCREATIC AND CEREBELLAR AGENESIS; PACA;;DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS HP:0012642 Cerebellar agenesis TAS TAS Disease name contained:nent neonatal, with cerebellar agenesispancreatic and cereb OMIM:609069 HPO:skoehler 21.01.2015
+
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <koe...@us...> - 2015-01-23 13:13:45
|
Revision: 5270
http://sourceforge.net/p/obo/svn/5270
Author: koehlers
Date: 2015-01-23 13:13:36 +0000 (Fri, 23 Jan 2015)
Log Message:
-----------
added sevaral manually curated annotations
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-114300.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-135400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-190685.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-228000.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-253590.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-259730.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-278300.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601287.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607594.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607903.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611102.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613371.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613830.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615071.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-114300.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-114300.tab 2015-01-23 11:32:36 UTC (rev 5269)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-114300.tab 2015-01-23 13:13:36 UTC (rev 5270)
@@ -30,3 +30,5 @@
OMIM:114300 #114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3;;GORDON SYNDROME;;ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA;;CAMPTODACTYLY, CLEFT PALATE, AND CLUBFOOT HP:0001845 Overlapping toe IEA IEA OMIM-CS:SKELETAL_FEET > OVERLAPPING TOES OMIM:114300 HPO:skoehler 03.08.2014
OMIM:114300 #114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3;;GORDON SYNDROME;;ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA;;CAMPTODACTYLY, CLEFT PALATE, AND CLUBFOOT HP:0002944 Thoracolumbar scoliosis IEA IEA OMIM-CS:SKELETAL_SPINE > THORACOLUMBAR SCOLIOSIS OMIM:114300 HPO:skoehler 03.08.2014
OMIM:114300 #114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3;;GORDON SYNDROME;;ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA;;CAMPTODACTYLY, CLEFT PALATE, AND CLUBFOOT HP:0002804 Arthrogryposis multiplex congenita IEA IEA Disease name contained:#114300 arthrogryposis, distal, OMIM:114300 HPO:skoehler 19.01.2015
+OMIM:114300 #114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3;;GORDON SYNDROME;;ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA;;CAMPTODACTYLY, CLEFT PALATE, AND CLUBFOOT HP:0005684 Distal arthrogryposis IEA IEA Disease name contained:ft palate- clubfoot|distal arthrogryposis type 3|distal arthr OMIM:114300 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-135400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-135400.tab 2015-01-23 11:32:36 UTC (rev 5269)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-135400.tab 2015-01-23 13:13:36 UTC (rev 5270)
@@ -7,3 +7,5 @@
OMIM:135400 #135400 HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA;HTC3;;FIBROMATOSIS, GINGIVAL, WITH HYPERTRICHOSIS;;CHROMOSOME 17q24.2-q24.3 DELETION SYNDROME;;CHROMOSOME 17q24.2-q24.3 DUPLICATION SYNDROME;;MICRODELETION 17q24.2-q24.3 SYNDROME;;MICRODUPLICATION 17q24.2-q24.3 SYNDROME;;HYPERTRICHOSIS TERMINALIS, GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA HP:0000286 Epicanthus IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > EPICANTHAL FOLDS (IN SOME PATIENTS) OMIM:135400 HPO:skoehler 24.08.2014
OMIM:135400 #135400 HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA;HTC3;;FIBROMATOSIS, GINGIVAL, WITH HYPERTRICHOSIS;;CHROMOSOME 17q24.2-q24.3 DELETION SYNDROME;;CHROMOSOME 17q24.2-q24.3 DUPLICATION SYNDROME;;MICRODELETION 17q24.2-q24.3 SYNDROME;;MICRODUPLICATION 17q24.2-q24.3 SYNDROME;;HYPERTRICHOSIS TERMINALIS, GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA HP:0000414 Bulbous nose IEA IEA rare OMIM-CS:HEAD AND NECK_NOSE > BULBOUS NASAL TIP (IN SOME PATIENTS) OMIM:135400 HPO:skoehler 24.08.2014
OMIM:135400 #135400 HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA;HTC3;;FIBROMATOSIS, GINGIVAL, WITH HYPERTRICHOSIS;;CHROMOSOME 17q24.2-q24.3 DELETION SYNDROME;;CHROMOSOME 17q24.2-q24.3 DUPLICATION SYNDROME;;MICRODELETION 17q24.2-q24.3 SYNDROME;;MICRODUPLICATION 17q24.2-q24.3 SYNDROME;;HYPERTRICHOSIS TERMINALIS, GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA HP:0009928 Thick nasal alae IEA IEA rare OMIM-CS:HEAD AND NECK_NOSE > THICK NASAL ALAE (IN SOME PATIENTS) OMIM:135400 HPO:skoehler 24.08.2014
+OMIM:135400 #135400 HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA;HTC3;;FIBROMATOSIS, GINGIVAL, WITH HYPERTRICHOSIS;;CHROMOSOME 17Q24.2-Q24.3 DELETION SYNDROME;;CHROMOSOME 17Q24.2-Q24.3 DUPLICATION SYNDROME;;MICRODELETION 17Q24.2-Q24.3 SYNDROME;;MICRODUPLICATION 17Q24.2-Q24.3 SYNDROME;;HYPERTRICHOSIS TERMINALIS, GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA HP:0004540 Congenital, generalized hypertrichosis IEA IEA Disease name contained:val hyperplasiacght|congenital generalized hypertrichosis terminalis|gingival OMIM:135400 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-190685.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-190685.tab 2015-01-23 11:32:36 UTC (rev 5269)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-190685.tab 2015-01-23 13:13:36 UTC (rev 5270)
@@ -29,3 +29,5 @@
OMIM:190685 DOWN SYNDROMETRISOMY 21, INCLUDED HP:0001169 Broad palm TAS TAS OMIM:190685 HPO:probinson Apr 7, 2013
OMIM:190685 DOWN SYNDROMETRISOMY 21, INCLUDED HP:0004279 Short palm TAS TAS OMIM:190685 HPO:probinson Apr 7, 2013
OMIM:190685 #190685 DOWN SYNDROMETRISOMY 21, INCLUDED;;DOWN SYNDROME CHROMOSOME REGION, INCLUDED; DCR, INCLUDED;;DOWN SYNDROME CRITICAL REGION, INCLUDED; DSCR, INCLUDED;;TRANSIENT MYELOPROLIFERATIVE DISORDER OF DOWN SYNDROME, INCLUDED;;LEUKEMIA, MEGAKARYOBLASTIC, OF DOWN SYNDROME, INCLUDED HP:0012368 Flat face IEA IEA OMIM-CS:HEAD AND NECK_FACE > FLAT FACIAL PROFILE OMIM:190685 HPO:skoehler 27.11.2014
+OMIM:190685 #190685 DOWN SYNDROMETRISOMY 21, INCLUDED;;DOWN SYNDROME CHROMOSOME REGION, INCLUDED; DCR, INCLUDED;;DOWN SYNDROME CRITICAL REGION, INCLUDED; DSCR, INCLUDED;;TRANSIENT MYELOPROLIFERATIVE DISORDER OF DOWN SYNDROME, INCLUDED;;LEUKEMIA, MEGAKARYOBLASTIC, OF DOWN SYNDROME, INCLUDED HP:0005547 Myeloproliferative disorder IEA IEA Disease name contained:included;;transient myeloproliferative disorder of down syndrome, i OMIM:190685 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-228000.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-228000.tab 2015-01-23 11:32:36 UTC (rev 5269)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-228000.tab 2015-01-23 13:13:36 UTC (rev 5270)
@@ -1,6 +1,5 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
OMIM:228000 FARBER LIPOGRANULOMATOSIS HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:228000 HPO 17.02.2009
-OMIM:228000 FARBER LIPOGRANULOMATOSIS HP:0000112 Nephropathy IEA IEA OMIM:228000 HPO 17.02.2009
OMIM:228000 FARBER LIPOGRANULOMATOSIS HP:0000737 Irritability IEA IEA OMIM:228000 HPO 17.02.2009
OMIM:228000 FARBER LIPOGRANULOMATOSIS HP:0001249 Intellectual disability IEA IEA OMIM:228000 HPO:skoehler 18.06.2010
OMIM:228000 FARBER LIPOGRANULOMATOSIS HP:0001270 Motor delay IEA IEA OMIM:228000 HPO 17.02.2009
@@ -15,3 +14,5 @@
OMIM:228000 #228000 FARBER LIPOGRANULOMATOSIS;;FARBER DISEASE;;CERAMIDASE DEFICIENCY;;ACID CERAMIDASE DEFICIENCY;;AC DEFICIENCY;;N-LAURYLSPHINGOSINE DEACYLASE DEFICIENCY HP:0003676 Progressive disorder IEA IEA OMIM-CS:MISCELLANEOUS > PROGRESSIVE DISORDER OMIM:228000 HPO:skoehler 10.09.2013
OMIM:228000 #228000 FARBER LIPOGRANULOMATOSIS;;FARBER DISEASE;;CERAMIDASE DEFICIENCY;;ACID CERAMIDASE DEFICIENCY;;AC DEFICIENCY;;N-LAURYLSPHINGOSINE DEACYLASE DEFICIENCY HP:0003828 Variable expressivity IEA IEA OMIM-CS:MISCELLANEOUS > VARIABLE SEVERITY OMIM:228000 HPO:skoehler 10.09.2013
OMIM:228000 #228000 FARBER LIPOGRANULOMATOSIS;;FARBER DISEASE;;CERAMIDASE DEFICIENCY;;ACID CERAMIDASE DEFICIENCY;;AC DEFICIENCY;;N-LAURYLSPHINGOSINE DEACYLASE DEFICIENCY HP:0001369 Arthritis IEA IEA OMIM-CS:SKELETAL > ARTHRITIS OMIM:228000 HPO:skoehler 10.09.2013
+OMIM:228000 #228000 FARBER LIPOGRANULOMATOSIS;;FARBER DISEASE;;CERAMIDASE DEFICIENCY;;ACID CERAMIDASE DEFICIENCY;;AC DEFICIENCY;;N-LAURYLSPHINGOSINE DEACYLASE DEFICIENCY HP:0040139 Lipogranulomatosis IEA IEA Disease name contained:#228000 farber lipogranulomatosis;;farber disease;;ce OMIM:228000 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-253590.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-253590.tab 2015-01-23 11:32:36 UTC (rev 5269)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-253590.tab 2015-01-23 13:13:36 UTC (rev 5270)
@@ -4,3 +4,5 @@
OMIM:253590 MUSCULAR DYSTROPHY, ADULT-ONSET, WITH LEUKOENCEPHALOPATHY HP:0001324 Muscle weakness IEA IEA OMIM:253590 HPO:skoehler 20.06.2010
OMIM:253590 MUSCULAR DYSTROPHY, ADULT-ONSET, WITH LEUKOENCEPHALOPATHY HP:0002066 Gait ataxia IEA IEA OMIM:253590 HPO:skoehler 20.06.2010
OMIM:253590 MUSCULAR DYSTROPHY, ADULT-ONSET, WITH LEUKOENCEPHALOPATHY HP:0002352 Leukoencephalopathy IEA IEA OMIM:253590 HPO:skoehler 20.06.2010
+OMIM:253590 MUSCULAR DYSTROPHY, ADULT-ONSET, WITH LEUKOENCEPHALOPATHY HP:0003560 Muscular dystrophy IEA IEA Disease name contained:muscular dystrophy, adult-onset, with OMIM:253590 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-259730.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-259730.tab 2015-01-23 11:32:36 UTC (rev 5269)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-259730.tab 2015-01-23 13:13:36 UTC (rev 5270)
@@ -13,4 +13,6 @@
OMIM:259730 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 HP:0004437 Cranial hyperostosis IEA IEA OMIM:259730 HPO Feb 17, 2009
OMIM:259730 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 HP:0007807 Optic nerve compression IEA IEA OMIM:259730 HPO Feb 17, 2009
OMIM:259730 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 HP:0008153 Periodic hypokalemic paresis TAS TAS OMIM:259730 HPO:skoehler Feb 17, 2009
-OMIM:259730 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 HP:0008341 Distal renal tubular acidosis IEA IEA OMIM:259730 HPO Feb 17, 2009
+OMIM:259730 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 HP:0008341 Distal renal tubular acidosis IEA IEA OMIM:259730 HPO Feb 17, 2009
+OMIM:259730 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 HP:0011002 Osteopetrosis IEA IEA Disease name contained:osteopetrosis, autosomal recessiv OMIM:259730 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-278300.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-278300.tab 2015-01-23 11:32:36 UTC (rev 5269)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-278300.tab 2015-01-23 13:13:36 UTC (rev 5270)
@@ -6,3 +6,5 @@
OMIM:278300 XANTHINURIA, TYPE I HP:0003198 Myopathy IEA IEA OMIM:278300 HPO 17.02.2009
OMIM:278300 #278300 XANTHINURIA, TYPE I;;XANTHINE DEHYDROGENASE DEFICIENCY;;XDH DEFICIENCY;;XANTHINE OXIDASE DEFICIENCY HP:0010934 Xanthinuria IEA IEA OMIM-CS:LAB > XANTHINURIA OMIM:278300 HPO:skoehler 17.10.2012
OMIM:278300 #278300 XANTHINURIA, TYPE I;;XANTHINE DEHYDROGENASE DEFICIENCY;;XDH DEFICIENCY;;XANTHINE OXIDASE DEFICIENCY HP:0012330 Pyelonephritis IEA IEA OMIM-CS:GU > PYELONEPHRITIS OMIM:278300 HPO:skoehler 17.09.2013
+OMIM:278300 #278300 XANTHINURIA, TYPE I;;XANTHINE DEHYDROGENASE DEFICIENCY;;XDH DEFICIENCY;;XANTHINE OXIDASE DEFICIENCY HP:0003534 Reduced xanthine dehydrogenase activity TAS TAS Disease name contained:anthinuria, type i;;xanthine dehydrogenase deficiency;;xdh deficiency;;xa OMIM:278300 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601287.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601287.tab 2015-01-23 11:32:36 UTC (rev 5269)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601287.tab 2015-01-23 13:13:36 UTC (rev 5270)
@@ -3,4 +3,6 @@
OMIM:601287 #601287 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F SGCD HP:0007126 Proximal amyotrophy TAS TAS MIM:601287 HPO:probinson Feb 16, 2013
OMIM:601287 #601287 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F SGCD HP:0003691 Scapular winging TAS TAS MIM:601287 HPO:probinson Feb 16, 2013
OMIM:601287 #601287 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F SGCD HP:0003701 Proximal muscle weakness TAS TAS MIM:601287 HPO:probinson Feb 16, 2013
-OMIM:601287 #601287 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F SGCD HP:0002355 Difficulty walking TAS TAS MIM:601287 HPO:probinson Feb 16, 2013
+OMIM:601287 #601287 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F SGCD HP:0002355 Difficulty walking TAS TAS MIM:601287 HPO:probinson Feb 16, 2013
+OMIM:601287 #601287 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F HP:0003560 Muscular dystrophy TAS TAS Disease name contained:#601287 muscular dystrophy, limb-girdle, type OMIM:601287 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607594.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607594.tab 2015-01-23 11:32:36 UTC (rev 5269)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607594.tab 2015-01-23 13:13:36 UTC (rev 5270)
@@ -19,3 +19,5 @@
OMIM:607594 #607594 IMMUNODEFICIENCY, COMMON VARIABLE, 1; CVID1;;ANTIBODY DEFICIENCY DUE TO ICOS DEFECTIMMUNODEFICIENCY, COMMON VARIABLE, INCLUDED; CVID, INCLUDED HP:0002837 Recurrent bronchitis IEA IEA OMIM-CS:RESPIRATORY_AIRWAYS > BRONCHITIS, RECURRENT OMIM:607594 HPO:skoehler 21.11.2012
OMIM:607594 #607594 IMMUNODEFICIENCY, COMMON VARIABLE, 1; CVID1;;ANTIBODY DEFICIENCY DUE TO ICOS DEFECTIMMUNODEFICIENCY, COMMON VARIABLE, INCLUDED; CVID, INCLUDED HP:0006532 Recurrent pneumonia IEA IEA OMIM-CS:RESPIRATORY_LUNG > PNEUMONIA, RECURRENT OMIM:607594 HPO:skoehler 21.11.2012
OMIM:607594 #607594 IMMUNODEFICIENCY, COMMON VARIABLE, 1; CVID1;;ANTIBODY DEFICIENCY DUE TO ICOS DEFECTIMMUNODEFICIENCY, COMMON VARIABLE, INCLUDED; CVID, INCLUDED HP:0011839 Abnormality of T cell number IEA IEA NOT NOT OMIM-CS:IMMUNOLOGY > NORMAL NUMBERS OF T CELLS OMIM:607594 HPO:skoehler 27.11.2014
+OMIM:607594 #607594 IMMUNODEFICIENCY, COMMON VARIABLE, 1; CVID1;;ANTIBODY DEFICIENCY DUE TO ICOS DEFECTIMMUNODEFICIENCY, COMMON VARIABLE, INCLUDED; CVID, INCLUDED HP:0002721 Immunodeficiency IEA IEA Disease name contained:y due to icos defectimmunodeficiency, common variable, i OMIM:607594 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607903.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607903.tab 2015-01-23 11:32:36 UTC (rev 5269)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607903.tab 2015-01-23 13:13:36 UTC (rev 5270)
@@ -7,4 +7,6 @@
OMIM:607903 #607903 HYPOTRICHOSIS 6; HYPT6;;HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 1; LAH1;;HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE; LAH;;HTL HP:0000989 Pruritus IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > PRURITUS IN AFFECTED AREAS OMIM:607903 HPO:skoehler Nov 21, 2012
OMIM:607903 #607903 HYPOTRICHOSIS 6; HYPT6;;HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 1; LAH1;;HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE; LAH;;HTL HP:0000535 Sparse eyebrow TAS TAS OMIM:607903 HPO:probinson May 24, 2014
OMIM:607903 #607903 HYPOTRICHOSIS 6; HYPT6;;HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 1; LAH1;;HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE; LAH;;HTL HP:0000653 Sparse eyelashes TAS TAS OMIM:607903 HPO:probinson May 24, 2014
-OMIM:607903 #607903 HYPOTRICHOSIS 6; HYPT6;;HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 1; LAH1;;HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE; LAH;;HTL HP:0002299 Brittle hair PCS PCS OMIM-CS:SKIN, NAILS, HAIR_HAIR > SHORT, SPARSE HAIR ON SCALP pmid:16439973 HPO:probinson May 24, 2014
+OMIM:607903 #607903 HYPOTRICHOSIS 6; HYPT6;;HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 1; LAH1;;HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE; LAH;;HTL HP:0002299 Brittle hair PCS PCS OMIM-CS:SKIN, NAILS, HAIR_HAIR > SHORT, SPARSE HAIR ON SCALP pmid:16439973 HPO:probinson May 24, 2014
+OMIM:607903 #607903 HYPOTRICHOSIS 6; HYPT6;;HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 1; LAH1;;HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE; LAH;;HTL HP:0001006 Hypotrichosis IEA IEA Disease name contained: recessive 1; lah1;;hypotrichosis, localized, autosom OMIM:607903 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611102.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611102.tab 2015-01-23 11:32:36 UTC (rev 5269)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611102.tab 2015-01-23 13:13:36 UTC (rev 5270)
@@ -2,4 +2,6 @@
OMIM:611102 DEAFNESS, SENSORINEURAL, AND MALE INFERTILITY HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:611102 HPO:probinson Feb 17, 2009
OMIM:611102 DEAFNESS, SENSORINEURAL, AND MALE INFERTILITY HP:0008619 Bilateral sensorineural hearing impairment TAS TAS OMIM:611102 HPO:probinson Feb 17, 2009
OMIM:611102 DEAFNESS, SENSORINEURAL, AND MALE INFERTILITY HP:0008669 Abnormal spermatogenesis TAS TAS OMIM:611102 HPO:probinson Jul 22, 2012
-OMIM:611102 DEAFNESS, SENSORINEURAL, AND MALE INFERTILITY HP:0012207 Reduced sperm motility TAS TAS OMIM:611102 HPO:probinson Mar 12, 2013
+OMIM:611102 DEAFNESS, SENSORINEURAL, AND MALE INFERTILITY HP:0012207 Reduced sperm motility TAS TAS OMIM:611102 HPO:probinson Mar 12, 2013
+OMIM:611102 DEAFNESS, SENSORINEURAL, AND MALE INFERTILITY HP:0003251 Male infertility IEA IEA Disease name contained: sensorineural, and male infertilitydeafness-infertility OMIM:611102 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613371.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613371.tab 2015-01-23 11:32:36 UTC (rev 5269)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613371.tab 2015-01-23 13:13:36 UTC (rev 5270)
@@ -6,3 +6,5 @@
OMIM:613371 %613371 SPINOCEREBELLAR ATAXIA 30; SCA30 HP:0001272 Cerebellar atrophy IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR ATROPHY OMIM:613371 HPO:skoehler 17.10.2012
OMIM:613371 %613371 SPINOCEREBELLAR ATAXIA 30; SCA30 HP:0001260 Dysarthria IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DYSARTHRIA OMIM:613371 HPO:skoehler 17.10.2012
OMIM:613371 %613371 SPINOCEREBELLAR ATAXIA 30; SCA30 HP:0000640 Gaze-evoked nystagmus IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > GAZE-EVOKED NYSTAGMUS (1 PATIENT) OMIM:613371 HPO:skoehler 18.11.2012
+OMIM:613371 %613371 SPINOCEREBELLAR ATAXIA 30; SCA30 HP:0001251 Ataxia IEA IEA Disease name contained:%613371 spinocerebellar ataxia 30; sca30 OMIM:613371 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613830.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613830.tab 2015-01-23 11:32:36 UTC (rev 5269)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613830.tab 2015-01-23 13:13:36 UTC (rev 5270)
@@ -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:613830 #613830 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D; CSNB1D;;CSNB, COMPLETE, AUTOSOMAL RECESSIVE HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:613830 HPO:skoehler 17.10.2012
+OMIM:613830 #613830 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D; CSNB1D;;CSNB, COMPLETE, AUTOSOMAL RECESSIVE HP:0007642 Congenital stationary night blindness TAS TAS Disease name contained:#613830 night blindness, congenital stationary, type 1d; csnb1d;;c OMIM:613830 HPO:skoehler 21.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615071.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615071.tab 2015-01-23 11:32:36 UTC (rev 5269)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615071.tab 2015-01-23 13:13:36 UTC (rev 5270)
@@ -7,3 +7,6 @@
OMIM:615071 #615071 ALAZAMI SYNDROME; ALAZS;;FACIAL DYSMORPHISM, INTELLECTUAL DISABILITY, AND PRIMORDIAL DWARFISM HP:0010864 Intellectual disability, severe IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTELLECTUAL DISABILITY, SEVERE OMIM:615071 HPO:skoehler 03.05.2013
OMIM:615071 #615071 ALAZAMI SYNDROME; ALAZS;;FACIAL DYSMORPHISM, INTELLECTUAL DISABILITY, AND PRIMORDIAL DWARFISM HP:0002650 Scoliosis IEA IEA OMIM-CS:SKELETAL_SPINE > SCOLIOSIS OMIM:615071 HPO:skoehler 03.05.2013
OMIM:615071 #615071 ALAZAMI SYNDROME; ALAZS;;FACIAL DYSMORPHISM, INTELLECTUAL DISABILITY, AND PRIMORDIAL DWARFISM HP:0000252 Microcephaly IEA IEA OMIM-CS:HEAD AND NECK_HEAD > MICROCEPHALY (<3.5 SD BELOW THE MEAN) OMIM:615071 HPO:skoehler 12.06.2013
+OMIM:615071 #615071 ALAZAMI SYNDROME; ALAZS;;FACIAL DYSMORPHISM, INTELLECTUAL DISABILITY, AND PRIMORDIAL DWARFISM HP:0003510 Severe short stature IEA IEA Disease name contained:ity, and primordial dwarfism OMIM:615071 HPO:skoehler 21.01.2015
+OMIM:615071 #615071 ALAZAMI SYNDROME; ALAZS;;FACIAL DYSMORPHISM, INTELLECTUAL DISABILITY, AND PRIMORDIAL DWARFISM HP:0004325 Decreased body weight IEA IEA OMIM-CS section OMIM:615071 HPO:skoehler 21.01.2015
+
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|
|
From: <koe...@us...> - 2015-01-23 11:32:43
|
Revision: 5269
http://sourceforge.net/p/obo/svn/5269
Author: koehlers
Date: 2015-01-23 11:32:36 +0000 (Fri, 23 Jan 2015)
Log Message:
-----------
manually curated annotations
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300260.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300376.tab
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609579.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300260.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300260.tab 2015-01-23 11:10:47 UTC (rev 5268)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300260.tab 2015-01-23 11:32:36 UTC (rev 5269)
@@ -32,3 +32,5 @@
OMIM:300260 LUBS X-LINKED MENTAL RETARDATION SYNDROME HP:0008947 Infantile muscular hypotonia TAS TAS OMIM:300260 HPO:skoehler 17.02.2009
OMIM:300260 LUBS X-LINKED MENTAL RETARDATION SYNDROME HP:0001510 Growth delay IEA IEA NOT NOT OMIM:300260 HPO:skoehler 18.06.2010
OMIM:300260 #300260 LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL;;MECP2 DUPLICATION SYNDROME;;MENTAL RETARDATION, X-LINKED, SYNDROMIC, LUBS TYPE;;MENTAL RETARDATION, X-LINKED, WITH RECURRENT RESPIRATORY INFECTIONS HP:0010804 Tented upper lip vermilion IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > TENTED UPPER LIP OMIM:300260 HPO:skoehler 26.11.2014
+OMIM:300260 #300260 LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL;;MECP2 DUPLICATION SYNDROME;;MENTAL RETARDATION, X-LINKED, SYNDROMIC, LUBS TYPE;;MENTAL RETARDATION, X-LINKED, WITH RECURRENT RESPIRATORY INFECTIONS HP:0001249 Intellectual disability IEA IEA Disease name contained:00260 lubs x-linked mental retardation syndrome; mrxsl;;me OMIM:300260 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300376.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300376.tab 2015-01-23 11:10:47 UTC (rev 5268)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300376.tab 2015-01-23 11:32:36 UTC (rev 5269)
@@ -8,4 +8,6 @@
OMIM:300376 #300376 MUSCULAR DYSTROPHY, BECKER TYPE; BMD;;BECKER MUSCULAR DYSTROPHY;;MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, BECKER TYPE HP:0003326 Myalgia IEA IEA OMIM-CS:MUSCLE > CALF AND THIGH CRAMPING MUSCLE PAINS OMIM:300376 HPO:skoehler Oct 14, 2012
OMIM:300376 #300376 MUSCULAR DYSTROPHY, BECKER TYPE; BMD;;BECKER MUSCULAR DYSTROPHY;;MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, BECKER TYPE HP:0003707 Calf muscle pseudohypertrophy IEA IEA OMIM-CS:MUSCLE > CALF MUSCLE PSEUDOHYPERTROPHY OMIM:300376 HPO:skoehler Oct 14, 2012
OMIM:300376 #300376 MUSCULAR DYSTROPHY, BECKER TYPE; BMD;;BECKER MUSCULAR DYSTROPHY;;MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, BECKER TYPE HP:0001324 Muscle weakness IEA IEA OMIM-CS:MUSCLE > WEAKNESS OMIM:300376 HPO:skoehler Oct 14, 2012
-OMIM:300376 #300376 MUSCULAR DYSTROPHY, BECKER TYPE; BMD;;BECKER MUSCULAR DYSTROPHY;;MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, BECKER TYPE HP:0001265 Hyporeflexia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPOREFLEXIA OMIM:300376 HPO:skoehler Oct 14, 2012
+OMIM:300376 #300376 MUSCULAR DYSTROPHY, BECKER TYPE; BMD;;BECKER MUSCULAR DYSTROPHY;;MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, BECKER TYPE HP:0001265 Hyporeflexia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPOREFLEXIA OMIM:300376 HPO:skoehler Oct 14, 2012
+OMIM:300376 #300376 MUSCULAR DYSTROPHY, BECKER TYPE; BMD;;BECKER MUSCULAR DYSTROPHY;;MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, BECKER TYPE HP:0003560 Muscular dystrophy IEA IEA Disease name contained:#300376 muscular dystrophy, becker type; bmd;; OMIM:300376 HPO:skoehler 21.01.2015
+
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609579.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609579.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609579.tab 2015-01-23 11:32:36 UTC (rev 5269)
@@ -0,0 +1,4 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:609579 FAMILIAL SCAPHOCEPHALY SYNDROME, MCGILLIVRAY TYPE HP:0001249 Intellectual disability IEA IEA Disease name contained:xillary retrusion - intellectual disability|http://www.orpha.ne OMIM:609579 HPO:skoehler 21.01.2015
+OMIM:609579 FAMILIAL SCAPHOCEPHALY SYNDROME, MCGILLIVRAY TYPE HP:0000268 Dolichocephaly IEA IEA Disease name contained:SCAPHOCEPHALY OMIM:609579 HPO:skoehler 21.01.2015
+
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|
|
From: <koe...@us...> - 2015-01-23 11:10:50
|
Revision: 5268
http://sourceforge.net/p/obo/svn/5268
Author: koehlers
Date: 2015-01-23 11:10:47 +0000 (Fri, 23 Jan 2015)
Log Message:
-----------
manually curated annotations
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-103470.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-127200.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-142630.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-268050.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-269880.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-275595.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300514.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610282.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613724.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613834.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614420.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614924.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615147.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615401.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-103470.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-103470.tab 2015-01-22 16:58:58 UTC (rev 5267)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-103470.tab 2015-01-23 11:10:47 UTC (rev 5268)
@@ -13,4 +13,5 @@
OMIM:103470 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS HP:0005592 Giant melanosomes in melanocytes TAS TAS OMIM:103470 HPO:probinson Jul 25, 2012
OMIM:103470 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS HP:0001417 X-linked inheritance IEA IEA OMIM:103470 HPO:skoehler Oct 11, 2012
OMIM:103470 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:103470 HPO:skoehler Oct 11, 2012
-OMIM:103470 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS HP:0001022 Albinism IEA IEA Disease name contained:albinism, ocular, OMIM:103470 HPO:skoehler 19.01.2015
+OMIM:103470 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS HP:0001107 Ocular albinism IEA IEA Disease name contained:albinism, ocular, with sensorineural OMIM:103470 HPO:skoehler 21.01.2015
+OMIM:103470 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS HP:0000407 Sensorineural hearing impairment IEA IEA Disease name contained:inism, ocular, with sensorineural deafness OMIM:103470 HPO:skoehler 21.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-127200.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-127200.tab 2015-01-22 16:58:58 UTC (rev 5267)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-127200.tab 2015-01-23 11:10:47 UTC (rev 5268)
@@ -11,3 +11,5 @@
OMIM:127200 DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIES HP:0009803 Short phalanx of finger IEA IEA OMIM:127200 HPO 17.02.2009
OMIM:127200 DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIES HP:0009816 Hypoplasia involving bones of the lower limbs IEA IEA OMIM:127200 HPO 17.02.2009
OMIM:127200 127200 DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIES;;MOORE-FEDERMAN SYNDROME HP:0006385 Short lower limbs IEA IEA OMIM-CS:LIMBS > SHORT LEGS OMIM:127200 HPO:skoehler 17.10.2012
+OMIM:127200 127200 DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIES;;MOORE-FEDERMAN SYNDROME HP:0003510 Severe short stature IEA IEA Disease name contained:127200 dwarfism with stiff joints a OMIM:127200 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-142630.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-142630.tab 2015-01-22 16:58:58 UTC (rev 5267)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-142630.tab 2015-01-23 11:10:47 UTC (rev 5268)
@@ -1,3 +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:142630 HISTIOCYTOSIS, PROGRESSIVE MUCINOUS HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:142630 HPO 17.02.2009
OMIM:142630 HISTIOCYTOSIS, PROGRESSIVE MUCINOUS HP:0008069 Neoplasm of the skin IEA IEA OMIM:142630 HPO:skoehler 20.06.2010
+OMIM:142630 HISTIOCYTOSIS, PROGRESSIVE MUCINOUS HP:0040138 Mucinous histiocytosis IEA IEA Disease name contained:rogressive mucinous histiocytosis|http://www.orpha.ne OMIM:142630 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-268050.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-268050.tab 2015-01-22 16:58:58 UTC (rev 5267)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-268050.tab 2015-01-23 11:10:47 UTC (rev 5268)
@@ -14,3 +14,5 @@
OMIM:268050 268050 RETINOPATHY, PIGMENTARY, AND MENTAL RETARDATION;;MIRHOSSEINI-HOLMES-WALTON SYNDROME HP:0010864 Intellectual disability, severe IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEVERE MENTAL RETARDATION OMIM:268050 HPO:skoehler 17.10.2012
OMIM:268050 268050 RETINOPATHY, PIGMENTARY, AND MENTAL RETARDATION;;MIRHOSSEINI-HOLMES-WALTON SYNDROME HP:0008848 Moderately short stature IEA IEA OMIM-CS:GROWTH_HEIGHT > SHORT STATURE, MODERATE OMIM:268050 HPO:skoehler 31.05.2013
OMIM:268050 268050 RETINOPATHY, PIGMENTARY, AND MENTAL RETARDATION;;MIRHOSSEINI-HOLMES-WALTON SYNDROME HP:0004283 Narrow palm IEA IEA OMIM-CS:SKELETAL_HANDS > NARROW HANDS OMIM:268050 HPO:skoehler 31.05.2013
+OMIM:268050 268050 RETINOPATHY, PIGMENTARY, AND MENTAL RETARDATION;;MIRHOSSEINI-HOLMES-WALTON SYNDROME HP:0000488 Retinopathy IEA IEA Disease name contained:268050 retinopathy, pigmentary, and me OMIM:268050 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-269880.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-269880.tab 2015-01-22 16:58:58 UTC (rev 5267)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-269880.tab 2015-01-23 11:10:47 UTC (rev 5268)
@@ -38,3 +38,5 @@
OMIM:269880 269880 SHORT SYNDROME;;SHORT STATURE, HYPEREXTENSIBILITY, HERNIA, OCULAR DEPRESSION, RIEGERANOMALY, AND TEETHING DELAY;;LIPODYSTROPHY, PARTIAL, WITH RIEGER ANOMALY, AND SHORT STATURE HP:0100678 Premature skin wrinkling TAS TAS OMIM:269880 HPO:skoehler Aug 7, 2013
OMIM:269880 #269880 SHORT SYNDROME;;SHORT STATURE, HYPEREXTENSIBILITY, HERNIA, OCULAR DEPRESSION, RIEGERANOMALY, AND TEETHING DELAY;;LIPODYSTROPHY, PARTIAL, WITH RIEGER ANOMALY AND SHORT STATURE HP:0030084 Clinodactyly IEA IEA OMIM-CS:SKELETAL_HANDS > CLINODACTYLY OMIM:269880 HPO:skoehler 21.09.2014
OMIM:269880 #269880 SHORT SYNDROME;;SHORT STATURE, HYPEREXTENSIBILITY, HERNIA, OCULAR DEPRESSION, RIEGERANOMALY, AND TEETHING DELAY;;LIPODYSTROPHY, PARTIAL, WITH RIEGER ANOMALY AND SHORT STATURE HP:0001249 Intellectual disability IEA IEA NOT NOT OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > NORMAL INTELLIGENCE OMIM:269880 HPO:skoehler 26.11.2014
+OMIM:269880 #269880 SHORT SYNDROME;;SHORT STATURE, HYPEREXTENSIBILITY, HERNIA, OCULAR DEPRESSION, RIEGERANOMALY, AND TEETHING DELAY;;LIPODYSTROPHY, PARTIAL, WITH RIEGER ANOMALY AND SHORT STATURE HP:0009125 Lipodystrophy IEA IEA Disease name contained:-ose-pande syndrome|lipodystrophy - rieger anomaly - OMIM:269880 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-275595.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-275595.tab 2015-01-22 16:58:58 UTC (rev 5267)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-275595.tab 2015-01-23 11:10:47 UTC (rev 5268)
@@ -11,3 +11,5 @@
OMIM:275595 TRIGONOBRACHYCEPHALY, BULBOUS BIFID NOSE, MICROGNATHIA, AND ABNORMALITIESOF THE HANDS AND FEET HP:0006009 Widened phalanges TAS TAS OMIM:275595 HPO:probinson 08.05.2012
OMIM:275595 TRIGONOBRACHYCEPHALY, BULBOUS BIFID NOSE, MICROGNATHIA, AND ABNORMALITIESOF THE HANDS AND FEET HP:0001783 Broad metatarsals TAS TAS OMIM:275595 HPO:probinson 08.05.2012
OMIM:275595 275595 TRIGONOBRACHYCEPHALY, BULBOUS BIFID NOSE, MICROGNATHIA, AND ABNORMALITIESOF THE HANDS AND FEET HP:0011344 Severe global developmental delay IEA IEA OMIM-CS:NEURO > SEVERE PSYCHOMOTOR RETARDATION OMIM:275595 HPO:skoehler 29.05.2013
+OMIM:275595 275595 TRIGONOBRACHYCEPHALY, BULBOUS BIFID NOSE, MICROGNATHIA, AND ABNORMALITIESOF THE HANDS AND FEET HP:0011803 Bifid nose IEA IEA Disease name contained:eettrigonocephaly - bifid nose - acral anomalies|h OMIM:275595 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300514.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300514.tab 2015-01-22 16:58:58 UTC (rev 5267)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300514.tab 2015-01-23 11:10:47 UTC (rev 5268)
@@ -9,4 +9,6 @@
OMIM:300514 #300514 FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB;;FACB;;FANCONI PANCYTOPENIA, TYPE 2; FA2 FAAP95 HP:0001510 Growth delay PCS PCS pmid:21910217 HPO:probinson Sep 14, 2013
OMIM:300514 #300514 FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB;;FACB;;FANCONI PANCYTOPENIA, TYPE 2; FA2 FAAP95 HP:0002575 Tracheoesophageal fistula PCS PCS Rare pmid:21910217 HPO:probinson Sep 14, 2013
OMIM:300514 #300514 FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB;;FACB;;FANCONI PANCYTOPENIA, TYPE 2; FA2 FAAP95 HP:0006525 Lung segmentation defects PCS PCS Rare pmid:21910217 HPO:probinson Sep 14, 2013
-OMIM:300514 #300514 FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB;;FACB;;FANCONI PANCYTOPENIA, TYPE 2; FA2 FAAP95 HP:0000369 Low-set ears PCS PCS pmid:21910217 HPO:probinson Sep 14, 2013
+OMIM:300514 #300514 FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB;;FACB;;FANCONI PANCYTOPENIA, TYPE 2; FA2 FAAP95 HP:0000369 Low-set ears PCS PCS pmid:21910217 HPO:probinson Sep 14, 2013
+OMIM:300514 #300514 FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB;;FACB;;FANCONI PANCYTOPENIA, TYPE 2; FA2 HP:0001903 Anemia IEA IEA Disease name contained:#300514 fanconi anemia, complementation gr OMIM:300514 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610282.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610282.tab 2015-01-22 16:58:58 UTC (rev 5267)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610282.tab 2015-01-23 11:10:47 UTC (rev 5268)
@@ -5,3 +5,5 @@
OMIM:610282 RETINITIS PIGMENTOSA 35; RP35 HP:0000618 Blindness IEA IEA OMIM:610282 HPO:skoehler 20.06.2010
OMIM:610282 RETINITIS PIGMENTOSA 35; RP35 HP:0000662 Night blindness IEA IEA OMIM:610282 HPO:skoehler 20.06.2010
OMIM:610282 RETINITIS PIGMENTOSA 35; RP35 HP:0001000 Abnormality of skin pigmentation IEA IEA OMIM:610282 HPO:skoehler 20.06.2010
+OMIM:610282 RETINITIS PIGMENTOSA 35; RP35 HP:0000510 Retinitis pigmentosa IEA IEA Disease name contained:retinitis pigmentosa 35; rp35 OMIM:610282 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613724.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613724.tab 2015-01-22 16:58:58 UTC (rev 5267)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613724.tab 2015-01-23 11:10:47 UTC (rev 5268)
@@ -7,4 +7,8 @@
OMIM:613724 #613724 LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY;;STEROL CARRIER PROTEIN 2 DEFICIENCY SCP2 HP:0004409 Hyposmia TAS TAS OMIM:613724 HPO:probinson Jun 2, 2013
OMIM:613724 #613724 LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY;;STEROL CARRIER PROTEIN 2 DEFICIENCY SCP2 HP:0000570 Abnormality of saccadic eye movements TAS TAS OMIM:613724 HPO:probinson Jun 2, 2013
OMIM:613724 #613724 LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY;;STEROL CARRIER PROTEIN 2 DEFICIENCY SCP2 HP:0002080 Intention tremor TAS TAS OMIM:613724 HPO:probinson Jun 2, 2013
-OMIM:613724 #613724 LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY;;STEROL CARRIER PROTEIN 2 DEFICIENCY SCP2 HP:0002450 Abnormality of the motor neurons TAS TAS OMIM:613724 HPO:probinson Jun 2, 2013
+OMIM:613724 #613724 LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY;;STEROL CARRIER PROTEIN 2 DEFICIENCY SCP2 HP:0002450 Abnormality of the motor neurons TAS TAS OMIM:613724 HPO:probinson Jun 2, 2013
+OMIM:613724 #613724 LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY;;STEROL CARRIER PROTEIN 2 DEFICIENCY HP:0002352 Leukoencephalopathy IEA IEA Disease name contained:#613724 leukoencephalopathy with dystonia and m OMIM:613724 HPO:skoehler 21.01.2015
+OMIM:613724 #613724 LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY;;STEROL CARRIER PROTEIN 2 DEFICIENCY HP:0009830 Peripheral neuropathy IEA IEA Disease name contained: dystonia and motor neuropathy;;sterol carrier pro OMIM:613724 HPO:skoehler 21.01.2015
+
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613834.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613834.tab 2015-01-22 16:58:58 UTC (rev 5267)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613834.tab 2015-01-23 11:10:47 UTC (rev 5268)
@@ -11,3 +11,4 @@
OMIM:613834 #613834 MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME;;MYDRIASIS, CONGENITAL, WITH PATENT DUCTUS ARTERIOSUS, THORACIC AORTICANEURYSM, AND VASCULOPATHY HP:0011499 Mydriasis HP:0003577 Congenital onset IEA IEA OMIM-CS:HEAD AND NECK_EYES > MYDRIASIS, CONGENITAL OMIM:613834 HPO:skoehler Nov 21, 2012
OMIM:613834 #613834 MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME;;MYDRIASIS, CONGENITAL, WITH PATENT DUCTUS ARTERIOSUS, THORACIC AORTICANEURYSM, AND VASCULOPATHY HP:0007866 Focal retinal infarction IEA IEA OMIM-CS:HEAD AND NECK_EYES > SMALL VESSEL RETINAL INFARCTS AND ANEURYSMS OMIM:613834 HPO:skoehler Nov 21, 2012
OMIM:613834 #613834 MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME;;MYDRIASIS, CONGENITAL, WITH PATENT DUCTUS ARTERIOSUS, THORACIC AORTICANEURYSM, AND VASCULOPATHY HP:0012727 Thoracic aortic aneurysm IEA IEA OMIM-CS:CARDIOVASCULAR_VASCULAR > THORACIC AORTIC ANEURYSM OMIM:613834 HPO:skoehler 24.03.2014
+OMIM:613834 #613834 MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME;;MYDRIASIS, CONGENITAL, WITH PATENT DUCTUS ARTERIOSUS, THORACIC AORTICANEURYSM, AND VASCULOPATHY HP:0001643 Patent ductus arteriosus IEA IEA Disease name contained:s, congenital, with patent ductus arteriosus, thoracic aorticane OMIM:613834 HPO:skoehler 21.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614420.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614420.tab 2015-01-22 16:58:58 UTC (rev 5267)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614420.tab 2015-01-23 11:10:47 UTC (rev 5268)
@@ -1,3 +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:614420 #614420 SYSTEMIC LUPUS ERYTHEMATOSUS 16; SLEB16 HP:0000123 Nephritis IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > NEPHRITIS OMIM:614420 HPO:skoehler 17.10.2012
OMIM:614420 #614420 SYSTEMIC LUPUS ERYTHEMATOSUS 16; SLEB16 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:614420 HPO:skoehler 17.10.2012
+OMIM:614420 #614420 SYSTEMIC LUPUS ERYTHEMATOSUS 16; SLEB16 HP:0002725 Systemic lupus erythematosus IEA IEA Disease name contained:#614420 systemic lupus erythematosus 16; sleb16 OMIM:614420 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614924.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614924.tab 2015-01-22 16:58:58 UTC (rev 5267)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614924.tab 2015-01-23 11:10:47 UTC (rev 5268)
@@ -23,4 +23,6 @@
OMIM:614924 #614924 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; COXPD12;;LEUKOENCEPHALOPATHY WITH THALAMUS AND BRAINSTEM INVOLVEMENT AND HIGHLACTATE; LTBL HP:0002376 Developmental regression IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PSYCHOMOTOR REGRESSION (IN MILDER CASES) OMIM:614924 HPO:skoehler Nov 20, 2012
OMIM:614924 #614924 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; COXPD12;;LEUKOENCEPHALOPATHY WITH THALAMUS AND BRAINSTEM INVOLVEMENT AND HIGHLACTATE; LTBL HP:0001285 Spastic tetraparesis IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SPASTIC TETRAPARESIS (IN SEVERE CASES) OMIM:614924 HPO:skoehler Nov 20, 2012
OMIM:614924 #614924 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; COXPD12;;LEUKOENCEPHALOPATHY WITH THALAMUS AND BRAINSTEM INVOLVEMENT AND HIGHLACTATE; LTBL HP:0011924 Decreased activity of mitochondrial complex III IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > DECREASED ACTIVITIES OF MITOCHONDRIAL COMPLEXES I, III, AND IV OMIM:614924 HPO:skoehler Nov 20, 2012
-OMIM:614924 #614924 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; COXPD12;;LEUKOENCEPHALOPATHY WITH THALAMUS AND BRAINSTEM INVOLVEMENT AND HIGHLACTATE; LTBL HP:0008347 Decreased activity of mitochondrial complex IV IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > DECREASED ACTIVITIES OF MITOCHONDRIAL COMPLEXES I, III, AND IV OMIM:614924 HPO:skoehler Nov 20, 2012
+OMIM:614924 #614924 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; COXPD12;;LEUKOENCEPHALOPATHY WITH THALAMUS AND BRAINSTEM INVOLVEMENT AND HIGHLACTATE; LTBL HP:0008347 Decreased activity of mitochondrial complex IV IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > DECREASED ACTIVITIES OF MITOCHONDRIAL COMPLEXES I, III, AND IV OMIM:614924 HPO:skoehler Nov 20, 2012
+OMIM:614924 #614924 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; COXPD12;;LEUKOENCEPHALOPATHY WITH THALAMUS AND BRAINSTEM INVOLVEMENT AND HIGHLACTATE; LTBL HP:0002352 Leukoencephalopathy IEA IEA Disease name contained:ciency 12; coxpd12;;leukoencephalopathy with thalamus and b OMIM:614924 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615147.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615147.tab 2015-01-22 16:58:58 UTC (rev 5267)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615147.tab 2015-01-23 11:10:47 UTC (rev 5268)
@@ -4,4 +4,8 @@
OMIM:615147 #615147 RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME; RDCCAS HP:0000482 Microcornea TAS TAS rare OMIM:615147 HPO:skoehler May 7, 2013
OMIM:615147 #615147 RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME; RDCCAS HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:615147 HPO:skoehler May 7, 2013
OMIM:615147 #615147 RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME; RDCCAS HP:0200070 Peripheral retinal atrophy TAS TAS OMIM:615147 HPO:skoehler May 31, 2013
-OMIM:615147 #615147 RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME; RDCCAS HP:0000556 Retinal dystrophy TAS TAS progressive OMIM:615147 HPO:skoehler Jun 6, 2013
+OMIM:615147 #615147 RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME; RDCCAS HP:0000556 Retinal dystrophy TAS TAS progressive OMIM:615147 HPO:skoehler Jun 6, 2013
+OMIM:615147 #615147 RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME; RDCCAS HP:0040137 Comodogenic acne IEA IEA Disease name contained:ma, and comedogenic acne syndrome; rdccas OMIM:615147 HPO:skoehler 21.01.2015
+OMIM:615147 #615147 RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME; RDCCAS HP:0000612 Iris coloboma IEA IEA Disease name contained: retinal dystrophy, iris coloboma, and comedogenic ac OMIM:615147 HPO:skoehler 21.01.2015
+
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615401.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615401.tab 2015-01-22 16:58:58 UTC (rev 5267)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615401.tab 2015-01-23 11:10:47 UTC (rev 5268)
@@ -5,3 +5,5 @@
OMIM:615401 #615401 IMMUNODEFICIENCY 8; IMD8 HP:0000752 Hyperactivity IEA IEA OMIM-CS:NEUROLOGIC_BEHAVIORAL/PSYCHIATRIC MANIFESTATIONS > HYPERACTIVITY OMIM:615401 HPO:skoehler 30.09.2013
OMIM:615401 #615401 IMMUNODEFICIENCY 8; IMD8 HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT OMIM:615401 HPO:skoehler 30.09.2013
OMIM:615401 #615401 IMMUNODEFICIENCY 8; IMD8 HP:0002205 Recurrent respiratory infections IEA IEA OMIM-CS:RESPIRATORY > RECURRENT RESPIRATORY INFECTIONS OMIM:615401 HPO:skoehler 30.09.2013
+OMIM:615401 #615401 IMMUNODEFICIENCY 8; IMD8 HP:0002721 Immunodeficiency IEA IEA Disease name contained:#615401 immunodeficiency 8; imd8 OMIM:615401 HPO:skoehler 21.01.2015
+
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <koe...@us...> - 2015-01-22 09:27:17
|
Revision: 5266
http://sourceforge.net/p/obo/svn/5266
Author: koehlers
Date: 2015-01-22 09:27:14 +0000 (Thu, 22 Jan 2015)
Log Message:
-----------
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-266600.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614468.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615373.tab
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603457.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-266600.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-266600.tab 2015-01-22 09:05:47 UTC (rev 5265)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-266600.tab 2015-01-22 09:27:14 UTC (rev 5266)
@@ -6,4 +6,10 @@
OMIM:266600 INFLAMMATORY BOWEL DISEASE 1 HP:0002014 Diarrhea IEA IEA OMIM:266600 HPO Feb 17, 2009
OMIM:266600 INFLAMMATORY BOWEL DISEASE 1 HP:0002027 Abdominal pain IEA IEA OMIM:266600 HPO Feb 17, 2009
OMIM:266600 INFLAMMATORY BOWEL DISEASE 1 HP:0005214 Intestinal obstruction TAS TAS OMIM:266600 HPO:skoehler Feb 17, 2009
-OMIM:266600 #266600 INFLAMMATORY BOWEL DISEASE 1; IBD1REGIONAL ENTERITIS, INCLUDED;;CROHN DISEASE, INCLUDED;;ULCERATIVE COLITIS, INCLUDED;;CROHN DISEASE-ASSOCIATED GROWTH FAILURE, SUSCEPTIBILITY TO, INCLUDED HP:0011107 Recurrent aphthous stomatitis IEA IEA OMIM:266600 HPO:skoehler Oct 17, 2012
+OMIM:266600 #266600 INFLAMMATORY BOWEL DISEASE 1; IBD1REGIONAL ENTERITIS, INCLUDED;;CROHN DISEASE, INCLUDED;;ULCERATIVE COLITIS, INCLUDED;;CROHN DISEASE-ASSOCIATED GROWTH FAILURE, SUSCEPTIBILITY TO, INCLUDED HP:0011107 Recurrent aphthous stomatitis IEA IEA OMIM:266600 HPO:skoehler Oct 17, 2012
+OMIM:266600 #266600 INFLAMMATORY BOWEL DISEASE 1; IBD1REGIONAL ENTERITIS, INCLUDED;;CROHN DISEASE, INCLUDED;;ULCERATIVE COLITIS, INCLUDED;;CROHN DISEASE-ASSOCIATED GROWTH FAILURE, SUSCEPTIBILITY TO, INCLUDED HP:0100279 Ulcerative colitis IEA IEA Disease name contained: disease, included;;ulcerative colitis, included;;crohn di OMIM:266600 HPO:skoehler 21.01.2015
+OMIM:266600 #266600 INFLAMMATORY BOWEL DISEASE 1; IBD1REGIONAL ENTERITIS, INCLUDED;;CROHN DISEASE, INCLUDED;;ULCERATIVE COLITIS, INCLUDED;;CROHN DISEASE-ASSOCIATED GROWTH FAILURE, SUSCEPTIBILITY TO, INCLUDED HP:0002037 Inflammation of the large intestine IEA IEA Disease name contained:#266600 inflammatory bowel disease 1; ibd1regional ent OMIM:266600 HPO:skoehler 21.01.2015
+OMIM:266600 #266600 INFLAMMATORY BOWEL DISEASE 1; IBD1REGIONAL ENTERITIS, INCLUDED;;CROHN DISEASE, INCLUDED;;ULCERATIVE COLITIS, INCLUDED;;CROHN DISEASE-ASSOCIATED GROWTH FAILURE, SUSCEPTIBILITY TO, INCLUDED HP:0001510 Growth delay IEA IEA Disease name contained: disease-associated growth failure, susceptibility to, OMIM:266600 HPO:skoehler 21.01.2015
+OMIM:266600 #266600 INFLAMMATORY BOWEL DISEASE 1; IBD1REGIONAL ENTERITIS, INCLUDED;;CROHN DISEASE, INCLUDED;;ULCERATIVE COLITIS, INCLUDED;;CROHN DISEASE-ASSOCIATED GROWTH FAILURE, SUSCEPTIBILITY TO, INCLUDED HP:0011107 Recurrent aphthous stomatitis IEA IEA OMIM-CS section OMIM:266600 HPO:skoehler 21.01.2015
+
+
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603457.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603457.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603457.tab 2015-01-22 09:27:14 UTC (rev 5266)
@@ -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:603457 ARRHINIA - CHOANAL ATRESIA - MICROPHTHALMIA HP:0004409 Hyposmia IEA IEA Disease name contained:ristiansen syndrome|hyposmia - nasal and ocular OMIM:603457 HPO:skoehler 21.01.2015
+OMIM:603457 ARRHINIA - CHOANAL ATRESIA - MICROPHTHALMIA HP:0009927 Aplasia of the nose IEA IEA OMIM-CS OMIM:603457 HPO:skoehler 21.01.2015
+OMIM:603457 ARRHINIA - CHOANAL ATRESIA - MICROPHTHALMIA HP:0000453 Choanal atresia IEA IEA OMIM-CS OMIM:603457 HPO:skoehler 21.01.2015
+OMIM:603457 ARRHINIA - CHOANAL ATRESIA - MICROPHTHALMIA HP:0000568 Microphthalmos IEA IEA OMIM-CS OMIM:603457 HPO:skoehler 21.01.2015
+
+
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614468.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614468.tab 2015-01-22 09:05:47 UTC (rev 5265)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614468.tab 2015-01-22 09:27:14 UTC (rev 5266)
@@ -5,3 +5,6 @@
OMIM:614468 #614468 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3;;ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLACG2-ASSOCIATED; PLAID;;FAMILIAL ATYPICAL COLD URTICARIA; FACU HP:0001045 Vitiligo IEA IEA OMIM-CS:IMMUNOLOGY > VITILIGO OMIM:614468 HPO:skoehler 17.10.2012
OMIM:614468 #614468 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3;;ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLACG2-ASSOCIATED; PLAID;;FAMILIAL ATYPICAL COLD URTICARIA; FACU HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT OMIM:614468 HPO:skoehler 17.10.2012
OMIM:614468 #614468 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3;;ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED; PLAID;;FAMILIAL ATYPICAL COLD URTICARIA; FACU HP:0002099 Asthma IEA IEA rare OMIM-CS:RESPIRATORY_AIRWAYS > ASTHMA (IN SOME PATIENTS) OMIM:614468 HPO:skoehler 18.11.2012
+OMIM:614468 #614468 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3;;ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED; PLAID;;FAMILIAL ATYPICAL COLD URTICARIA; FACU HP:0001025 Urticaria IEA IEA Disease name contained:ilial atypical cold urticaria; facu OMIM:614468 HPO:skoehler 21.01.2015
+OMIM:614468 #614468 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3;;ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED; PLAID;;FAMILIAL ATYPICAL COLD URTICARIA; FACU HP:0002958 Immune dysregulation IEA IEA Disease name contained:body deficiency and immune dysregulation, plcg2-associated; OMIM:614468 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615373.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615373.tab 2015-01-22 09:05:47 UTC (rev 5265)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615373.tab 2015-01-22 09:27:14 UTC (rev 5266)
@@ -2,3 +2,8 @@
OMIM:615373 #615373 LEFT VENTRICULAR NONCOMPACTION 8; LVNC8CARDIOMYOPATHY, DILATED, 1LL, INCLUDED; CMD1LL, INCLUDED HP:0011675 Arrhythmia IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > CARDIAC ARRHYTHMIAS (IN SOME PATIENTS) OMIM:615373 HPO:skoehler 28.01.2014
OMIM:615373 #615373 LEFT VENTRICULAR NONCOMPACTION 8; LVNC8CARDIOMYOPATHY, DILATED, 1LL, INCLUDED; CMD1LL, INCLUDED HP:0001653 Mitral regurgitation IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > MITRAL VALVE INSUFFICIENCY (IN SOME PATIENTS) OMIM:615373 HPO:skoehler 28.01.2014
OMIM:615373 #615373 LEFT VENTRICULAR NONCOMPACTION 8; LVNC8CARDIOMYOPATHY, DILATED, 1LL, INCLUDED; CMD1LL, INCLUDED HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT OMIM:615373 HPO:skoehler 28.01.2014
+OMIM:615373 #615373 LEFT VENTRICULAR NONCOMPACTION 8; LVNC8CARDIOMYOPATHY, DILATED, 1LL, INCLUDED; CMD1LL, INCLUDED HP:0001644 Dilated cardiomyopathy IEA IEA Disease name contained:ncompaction 8; lvnc8cardiomyopathy, dilated, 1ll, included; cmd OMIM:615373 HPO:skoehler 21.01.2015
+OMIM:615373 #615373 LEFT VENTRICULAR NONCOMPACTION 8; LVNC8CARDIOMYOPATHY, DILATED, 1LL, INCLUDED; CMD1LL, INCLUDED HP:0001711 Abnormality of the left ventricle IEA IEA OMIM-CS section OMIM:615373 HPO:skoehler 21.01.2015
+OMIM:603457 ARRHINIA - CHOANAL ATRESIA - MICROPHTHALMIA HP:0000135 Hypogonadism IEA IEA Disease name contained: - hypogonadotropic hypogonadism|http://www.orpha.ne OMIM:603457 HPO:skoehler 21.01.2015
+
+
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <koe...@us...> - 2015-01-22 09:05:55
|
Revision: 5265
http://sourceforge.net/p/obo/svn/5265
Author: koehlers
Date: 2015-01-22 09:05:47 +0000 (Thu, 22 Jan 2015)
Log Message:
-----------
manual annotation additions
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-209700.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-224400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601160.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602473.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-209700.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-209700.tab 2015-01-22 08:34:53 UTC (rev 5264)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-209700.tab 2015-01-22 09:05:47 UTC (rev 5265)
@@ -3,3 +3,5 @@
OMIM:209700 ATROPHODERMIA VERMICULATA HP:0000271 Abnormality of the face IEA IEA OMIM:209700 HPO 17.02.2009
OMIM:209700 ATROPHODERMIA VERMICULATA HP:0000951 Abnormality of the skin IEA IEA OMIM:209700 HPO 17.02.2009
OMIM:209700 ATROPHODERMIA VERMICULATA HP:0001626 Abnormality of the cardiovascular system IEA IEA OMIM:209700 HPO 17.02.2009
+OMIM:209700 ATROPHODERMIA VERMICULATA HP:0100837 Atrophodermia vermiculata IEA IEA Disease name contained:atrophodermia vermiculata OMIM:209700 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-224400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-224400.tab 2015-01-22 08:34:53 UTC (rev 5264)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-224400.tab 2015-01-22 09:05:47 UTC (rev 5265)
@@ -28,3 +28,5 @@
OMIM:224400 %224400 DYSSEGMENTAL DYSPLASIA, ROLLAND-DESBUQUOIS TYPE;;DDRD;;DYSSEGMENTAL DWARFISM, ROLLAND-DESBUQUOIS TYPE;;ANISOSPONDYLIC CAMPTOMICROMELIC DWARFISM, ROLLAND-DESBUQUOIS TYPE HP:0012368 Flat face IEA IEA OMIM-CS:HEAD AND NECK_FACE > FLAT FACE OMIM:224400 HPO:skoehler 22.10.2013
OMIM:224400 %224400 DYSSEGMENTAL DYSPLASIA, ROLLAND-DESBUQUOIS TYPE;;DDRD;;DYSSEGMENTAL DWARFISM, ROLLAND-DESBUQUOIS TYPE;;ANISOSPONDYLIC CAMPTOMICROMELIC DWARFISM, ROLLAND-DESBUQUOIS TYPE HP:0012385 Camptodactyly IEA IEA OMIM-CS:SKELETAL_HANDS > CAMPTODACTYLY OMIM:224400 HPO:skoehler 22.10.2013
OMIM:224400 %224400 DYSSEGMENTAL DYSPLASIA, ROLLAND-DESBUQUOIS TYPE;;DDRD;;DYSSEGMENTAL DWARFISM, ROLLAND-DESBUQUOIS TYPE;;ANISOSPONDYLIC CAMPTOMICROMELIC DWARFISM, ROLLAND-DESBUQUOIS TYPE HP:0011800 Midface retrusion IEA IEA OMIM-CS:HEAD AND NECK_FACE > MIDFACE HYPOPLASIA OMIM:224400 HPO:skoehler 28.11.2013
+OMIM:224400 %224400 DYSSEGMENTAL DYSPLASIA, ROLLAND-DESBUQUOIS TYPE;;DDRD;;DYSSEGMENTAL DWARFISM, ROLLAND-DESBUQUOIS TYPE;;ANISOSPONDYLIC CAMPTOMICROMELIC DWARFISM, ROLLAND-DESBUQUOIS TYPE HP:0003510 Severe short stature IEA IEA Disease name contained:;ddrd;;dyssegmental dwarfism, rolland-desbuquois OMIM:224400 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601160.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601160.tab 2015-01-22 08:34:53 UTC (rev 5264)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601160.tab 2015-01-22 09:05:47 UTC (rev 5265)
@@ -1,7 +1,6 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
OMIM:601160 LISSENCEPHALY TYPE III AND BONE DYSPLASIA HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:601160 HPO 17.02.2009
OMIM:601160 LISSENCEPHALY TYPE III AND BONE DYSPLASIA HP:0001274 Agenesis of corpus callosum IEA IEA OMIM:601160 HPO 17.02.2009
-OMIM:601160 LISSENCEPHALY TYPE III AND BONE DYSPLASIA HP:0001339 Lissencephaly TAS TAS OMIM:601160 HPO:probinson 17.02.2009
OMIM:601160 LISSENCEPHALY TYPE III AND BONE DYSPLASIA HP:0001561 Polyhydramnios IEA IEA OMIM:601160 HPO 17.02.2009
OMIM:601160 LISSENCEPHALY TYPE III AND BONE DYSPLASIA HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:601160 HPO 17.02.2009
OMIM:601160 LISSENCEPHALY TYPE III AND BONE DYSPLASIA HP:0002089 Pulmonary hypoplasia IEA IEA OMIM:601160 HPO 17.02.2009
@@ -10,4 +9,10 @@
OMIM:601160 LISSENCEPHALY TYPE III AND BONE DYSPLASIA HP:0002529 Neuronal loss in central nervous system IEA IEA OMIM:601160 HPO:skoehler 20.06.2010
OMIM:601160 LISSENCEPHALY TYPE III AND BONE DYSPLASIA HP:0002804 Arthrogryposis multiplex congenita IEA IEA OMIM:601160 HPO 17.02.2009
OMIM:601160 LISSENCEPHALY TYPE III AND BONE DYSPLASIA HP:0007009 Central nervous system degeneration IEA IEA OMIM:601160 HPO:skoehler 20.06.2010
-OMIM:601160 LISSENCEPHALY TYPE III AND BONE DYSPLASIA HP:0002335 Agenesis of cerebellar vermis TAS TAS OMIM:601160 HPO:probinson 10.06.2012
+OMIM:601160 LISSENCEPHALY TYPE III AND BONE DYSPLASIA HP:0002335 Agenesis of cerebellar vermis TAS TAS OMIM:601160 HPO:probinson 10.06.2012
+OMIM:601160 LISSENCEPHALY TYPE III AND BONE DYSPLASIA HP:0045028 Type III lissencephaly IEA IEA Disease name contained:lissencephaly type iii and bone dysplasia OMIM:601160 HPO:skoehler 21.01.2015
+OMIM:601160 LISSENCEPHALY TYPE III AND BONE DYSPLASIA HP:0002804 Arthrogryposis multiplex congenita IEA IEA OMIM-CS OMIM:601160 HPO:skoehler 21.01.2015
+OMIM:601160 LISSENCEPHALY TYPE III AND BONE DYSPLASIA HP:0002089 Pulmonary hypoplasia IEA IEA OMIM-CS OMIM:601160 HPO:skoehler 21.01.2015
+
+
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602473.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602473.tab 2015-01-22 08:34:53 UTC (rev 5264)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602473.tab 2015-01-22 09:05:47 UTC (rev 5265)
@@ -16,3 +16,5 @@
MIM:602473 ENCEPHALOPATHY, ETHYLMALONIC MIM:608451 ETHE1 GENE ETHE1 HP:0008046 Abnormality of the retinal vasculature PCS PCS MIM:602473 HPO:probinson 06.04.2012
OMIM:602473 #602473 ENCEPHALOPATHY, ETHYLMALONIC; EE HP:0001508 Failure to thrive IEA IEA OMIM-CS:GROWTH_OTHER > FAILURE TO THRIVE OMIM:602473 HPO:skoehler 17.10.2012
OMIM:602473 #602473 ENCEPHALOPATHY, ETHYLMALONIC; EE HP:0002376 Developmental regression IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DEVELOPMENTAL REGRESSION OMIM:602473 HPO:skoehler 17.10.2012
+OMIM:602473 #602473 ENCEPHALOPATHY, ETHYLMALONIC; EE HP:0001298 Encephalopathy IEA IEA Disease name contained:#602473 encephalopathy, ethylmalonic; ee OMIM:602473 HPO:skoehler 21.01.2015
+
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <koe...@us...> - 2015-01-22 08:34:56
|
Revision: 5264
http://sourceforge.net/p/obo/svn/5264
Author: koehlers
Date: 2015-01-22 08:34:53 +0000 (Thu, 22 Jan 2015)
Log Message:
-----------
manual annotation updates
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-112250.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-242860.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-267450.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600776.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607944.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612089.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614417.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614896.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615113.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615226.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615356.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615654.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615863.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-112250.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-112250.tab 2015-01-22 08:01:22 UTC (rev 5263)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-112250.tab 2015-01-22 08:34:53 UTC (rev 5264)
@@ -22,4 +22,6 @@
OMIM:112250 #112250 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA;DMSMFH;;BONE DYSPLASIA WITH MEDULLARY FIBROSARCOMA; BDMF;;BONE DYSPLASIA WITH MALIGNANT FIBROUS HISTIOCYTOMA;;MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY HP:0002216 Premature graying of hair IEA IEA rare OMIM-CS:SKIN, NAILS, HAIR_HAIR > PREMATURE GRAYING (1 FAMILY) OMIM:112250 HPO:skoehler Nov 18, 2012
OMIM:112250 #112250 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA;DMSMFH;;BONE DYSPLASIA WITH MEDULLARY FIBROSARCOMA; BDMF;;BONE DYSPLASIA WITH MALIGNANT FIBROUS HISTIOCYTOMA;;MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY HP:0000978 Bruising susceptibility IEA IEA rare OMIM-CS:SKIN, NAILS, HAIR_SKIN > EASY BRUISING (1 FAMILY) OMIM:112250 HPO:skoehler Nov 18, 2012
OMIM:112250 #112250 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA;DMSMFH;;BONE DYSPLASIA WITH MEDULLARY FIBROSARCOMA; BDMF;;BONE DYSPLASIA WITH MALIGNANT FIBROUS HISTIOCYTOMA;;MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY HP:0000963 Thin skin TAS TAS rare OMIM:112250 HPO:skoehler Aug 7, 2013
-OMIM:112250 #112250 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA;DMSMFH;;BONE DYSPLASIA WITH MEDULLARY FIBROSARCOMA; BDMF;;BONE DYSPLASIA WITH MALIGNANT FIBROUS HISTIOCYTOMA;;MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY HP:0000977 Soft skin TAS TAS rare OMIM:112250 HPO:skoehler Aug 7, 2013
+OMIM:112250 #112250 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA;DMSMFH;;BONE DYSPLASIA WITH MEDULLARY FIBROSARCOMA; BDMF;;BONE DYSPLASIA WITH MALIGNANT FIBROUS HISTIOCYTOMA;;MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY HP:0000977 Soft skin TAS TAS rare OMIM:112250 HPO:skoehler Aug 7, 2013
+OMIM:112250 #112250 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA;DMSMFH;;BONE DYSPLASIA WITH MEDULLARY FIBROSARCOMA; BDMF;;BONE DYSPLASIA WITH MALIGNANT FIBROUS HISTIOCYTOMA;;MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY HP:0012315 Histiocytoma IEA IEA Disease name contained:h malignant fibrous histiocytoma;dmsmfh;;bone dyspla OMIM:112250 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-242860.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-242860.tab 2015-01-22 08:01:22 UTC (rev 5263)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-242860.tab 2015-01-22 08:34:53 UTC (rev 5264)
@@ -23,3 +23,7 @@
OMIM:242860 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME HP:0003196 Short nose TAS TAS OMIM:242860 HPO:probinson 01.05.2012
OMIM:242860 #242860 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME1; ICF1;;IMMUNE DEFICIENCY, VARIABLE, WITH CENTROMERIC INSTABILITY OF CHROMOSOMES1, 9, AND 16;;CENTROMERIC INSTABILITY, IMMUNODEFICIENCY SYNDROME; CIID;;IMMUNODEFICIENCY SYNDROME, VARIABLE HP:0010808 Protruding tongue IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > TONGUE PROTRUSION OMIM:242860 HPO:skoehler 17.10.2012
OMIM:242860 #242860 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME1; ICF1;;IMMUNE DEFICIENCY, VARIABLE, WITH CENTROMERIC INSTABILITY OF CHROMOSOMES1, 9, AND 16;;CENTROMERIC INSTABILITY, IMMUNODEFICIENCY SYNDROME; CIID;;IMMUNODEFICIENCY SYNDROME, VARIABLE HP:0012368 Flat face IEA IEA OMIM-CS:HEAD AND NECK_FACE > FLAT FACE OMIM:242860 HPO:skoehler 22.10.2013
+OMIM:242860 #242860 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME1; ICF1;;IMMUNE DEFICIENCY, VARIABLE, WITH CENTROMERIC INSTABILITY OF CHROMOSOMES1, 9, AND 16;;CENTROMERIC INSTABILITY, IMMUNODEFICIENCY SYNDROME; CIID;;IMMUNODEFICIENCY SYNDROME, VARIABLE HP:0004313 Hypogammaglobulinemia IEA IEA Disease description in OMIM OMIM:242860 HPO:skoehler 21.01.2015
+OMIM:242860 #242860 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME1; ICF1;;IMMUNE DEFICIENCY, VARIABLE, WITH CENTROMERIC INSTABILITY OF CHROMOSOMES1, 9, AND 16;;CENTROMERIC INSTABILITY, IMMUNODEFICIENCY SYNDROME; CIID;;IMMUNODEFICIENCY SYNDROME, VARIABLE HP:0002721 Immunodeficiency IEA IEA Disease name contained:#242860 immunodeficiency-centromeric instabi OMIM:242860 HPO:skoehler 21.01.2015
+
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-267450.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-267450.tab 2015-01-22 08:01:22 UTC (rev 5263)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-267450.tab 2015-01-22 08:34:53 UTC (rev 5264)
@@ -9,3 +9,5 @@
OMIM:267450 RESPIRATORY DISTRESS SYNDROME IN PREMATURE INFANTS HP:0003577 Congenital onset IEA IEA OMIM:267450 HPO:skoehler 19.06.2010
OMIM:267450 RESPIRATORY DISTRESS SYNDROME IN PREMATURE INFANTS HP:0005521 Disseminated intravascular coagulation IEA IEA OMIM:267450 HPO 17.02.2009
OMIM:267450 #267450 RESPIRATORY DISTRESS SYNDROME IN PREMATURE INFANTS;;RDS OF PREMATURITY;;HYALINE MEMBRANE DISEASE, FORMERLY HP:0100750 Atelectasis IEA IEA OMIM-CS:RESPIRATORY_LUNG > ATELECTASIS OMIM:267450 HPO:skoehler 17.10.2012
+OMIM:267450 #267450 RESPIRATORY DISTRESS SYNDROME IN PREMATURE INFANTS;;RDS OF PREMATURITY;;HYALINE MEMBRANE DISEASE, FORMERLY HP:0002098 Respiratory distress IEA IEA Disease name contained:#267450 respiratory distress syndrome in prematu OMIM:267450 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600776.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600776.tab 2015-01-22 08:01:22 UTC (rev 5263)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600776.tab 2015-01-22 08:34:53 UTC (rev 5264)
@@ -7,3 +7,4 @@
OMIM:600776 FRYNS MICROPHTHALMIA SYNDROME HP:0002006 Facial cleft IEA IEA OMIM:600776 HPO:skoehler 20.06.2010
OMIM:600776 FRYNS MICROPHTHALMIA SYNDROME HP:0002744 Bilateral cleft lip/palate IEA IEA OMIM:600776 HPO 17.02.2009
OMIM:600776 600776 FRYNS MICROPHTHALMIA SYNDROME;;MICROPHTHALMIA WITH FACIAL CLEFTING;;ANOPHTHALMIA-PLUS SYNDROME HP:0000400 Macrotia IEA IEA OMIM-CS:EARS > MACROTIA OMIM:600776 HPO:skoehler 17.10.2012
+OMIM:600776 600776 FRYNS MICROPHTHALMIA SYNDROME;;MICROPHTHALMIA WITH FACIAL CLEFTING;;ANOPHTHALMIA-PLUS SYNDROME HP:0000568 Microphthalmos IEA IEA Disease name contained:600776 fryns microphthalmia syndrome;;microphth OMIM:600776 HPO:skoehler 21.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607944.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607944.tab 2015-01-22 08:01:22 UTC (rev 5263)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607944.tab 2015-01-22 08:34:53 UTC (rev 5264)
@@ -29,3 +29,5 @@
OMIM:607944 COMBINED IMMUNODEFICIENCY WITH AUTOIMMUNITY AND SPONDYLOMETAPHYSEALDYSPLASIA HP:0003025 Irregular metaphyses TAS TAS OMIM:607944 HPO:probinson 26.05.2012
OMIM:607944 COMBINED IMMUNODEFICIENCY WITH AUTOIMMUNITY AND SPONDYLOMETAPHYSEALDYSPLASIA HP:0004979 Metaphyseal sclerosis TAS TAS OMIM:607944 HPO:probinson 26.05.2012
OMIM:607944 #607944 SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI;;COMBINED IMMUNODEFICIENCY WITH AUTOIMMUNITY AND SPONDYLOMETAPHYSEALDYSPLASIA HP:0001249 Intellectual disability IEA IEA NOT NOT OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > NORMAL INTELLIGENCE OMIM:607944 HPO:skoehler 26.11.2014
+OMIM:607944 #607944 SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI;;COMBINED IMMUNODEFICIENCY WITH AUTOIMMUNITY AND SPONDYLOMETAPHYSEALDYSPLASIA HP:0002958 Immune dysregulation IEA IEA Disease name contained:ondrodysplasia with immune dysregulation; spencdi;;combined OMIM:607944 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612089.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612089.tab 2015-01-22 08:01:22 UTC (rev 5263)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612089.tab 2015-01-22 08:34:53 UTC (rev 5264)
@@ -12,3 +12,7 @@
OMIM:612089 HYPOPHOSPHATEMIC RICKETS AND HYPERPARATHYROIDISM HP:0004322 Short stature IEA IEA OMIM:612089 HPO:skoehler 19.06.2010
OMIM:612089 HYPOPHOSPHATEMIC RICKETS AND HYPERPARATHYROIDISM HP:0007099 Arnold-Chiari type I malformation IEA IEA OMIM:612089 HPO:skoehler 20.06.2010
OMIM:612089 HYPOPHOSPHATEMIC RICKETS AND HYPERPARATHYROIDISM HP:0008208 Parathyroid hyperplasia IEA IEA OMIM:612089 HPO:skoehler 20.06.2010
+OMIM:612089 HYPOPHOSPHATEMIC RICKETS AND HYPERPARATHYROIDISM HP:0000843 Hyperparathyroidism IEA IEA Disease name contained:hatemic rickets and hyperparathyroidism OMIM:612089 HPO:skoehler 21.01.2015
+OMIM:612089 HYPOPHOSPHATEMIC RICKETS AND HYPERPARATHYROIDISM HP:0004912 Hypophosphatemic rickets IEA IEA Disease name contained:hypophosphatemic rickets and hyperparathyroi OMIM:612089 HPO:skoehler 21.01.2015
+
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614417.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614417.tab 2015-01-22 08:01:22 UTC (rev 5263)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614417.tab 2015-01-22 08:34:53 UTC (rev 5264)
@@ -1,2 +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:614417 #614417 EPILEPSY, FAMILIAL TEMPORAL LOBE, 5; ETL5 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT OMIM:614417 HPO:skoehler 17.10.2012
+OMIM:614417 #614417 EPILEPSY, FAMILIAL TEMPORAL LOBE, 5; ETL5 HP:0001250 Seizures IEA IEA Disease name contained:#614417 epilepsy, familial temporal OMIM:614417 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614896.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614896.tab 2015-01-22 08:01:22 UTC (rev 5263)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614896.tab 2015-01-22 08:34:53 UTC (rev 5264)
@@ -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:614896 #614896 SINOATRIAL NODE DYSFUNCTION AND DEAFNESS; SANDD HP:0001662 Bradycardia IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > BRADYCARDIA OMIM:614896 HPO:skoehler 16.11.2012
OMIM:614896 #614896 SINOATRIAL NODE DYSFUNCTION AND DEAFNESS; SANDD HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:614896 HPO:skoehler 16.11.2012
+OMIM:614896 #614896 SINOATRIAL NODE DYSFUNCTION AND DEAFNESS; SANDD HP:0000365 Hearing impairment IEA IEA Disease name contained:ode dysfunction and deafness; sandd OMIM:614896 HPO:skoehler 21.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615113.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615113.tab 2015-01-22 08:01:22 UTC (rev 5263)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615113.tab 2015-01-22 08:34:53 UTC (rev 5264)
@@ -3,3 +3,5 @@
OMIM:615113 #615113 MICROPHTHALMIA, ISOLATED 8; MCOP8 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:615113 HPO:skoehler 18.11.2013
OMIM:615113 #615113 MICROPHTHALMIA, ISOLATED 8; MCOP8 HP:0000589 Coloboma IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > COLOBOMA (IN SOME PATIENTS) OMIM:615113 HPO:skoehler 28.01.2014
OMIM:615113 #615113 MICROPHTHALMIA, ISOLATED 8; MCOP8 HP:0000541 Retinal detachment IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > DETACHED RETINA (IN SOME PATIENTS) OMIM:615113 HPO:skoehler 28.01.2014
+OMIM:615113 #615113 MICROPHTHALMIA, ISOLATED 8; MCOP8 HP:0000568 Microphthalmos IEA IEA Disease name contained:#615113 microphthalmia, isolated 8; mcop8 OMIM:615113 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615226.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615226.tab 2015-01-22 08:01:22 UTC (rev 5263)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615226.tab 2015-01-22 08:34:53 UTC (rev 5264)
@@ -1,2 +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:615226 #615226 POLYDACTYLY, POSTAXIAL, TYPE A6; PAPA6 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:615226 HPO:skoehler 06.06.2013
+OMIM:615226 #615226 POLYDACTYLY, POSTAXIAL, TYPE A6; PAPA6 HP:0001162 Postaxial hand polydactyly IEA IEA Disease name contained:#615226 polydactyly, postaxial, type a6; papa6 OMIM:615226 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615356.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615356.tab 2015-01-22 08:01:22 UTC (rev 5263)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615356.tab 2015-01-22 08:34:53 UTC (rev 5264)
@@ -19,3 +19,5 @@
OMIM:615356 #615356 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S; LGMD2S HP:0001385 Hip dysplasia IEA IEA OMIM-CS:SKELETAL_PELVIS > HIP DYSPLASIA OMIM:615356 HPO:skoehler 06.10.2013
OMIM:615356 #615356 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S; LGMD2S HP:0002650 Scoliosis IEA IEA OMIM-CS:SKELETAL_SPINE > SCOLIOSIS OMIM:615356 HPO:skoehler 06.10.2013
OMIM:615356 #615356 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S; LGMD2S HP:0001252 Muscular hypotonia IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > HYPOTONIA OMIM:615356 HPO:skoehler 26.11.2014
+OMIM:615356 #615356 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S; LGMD2S HP:0006785 Limb-girdle muscular dystrophy IEA IEA Disease name contained:#615356 muscular dystrophy, limb-girdle, type OMIM:615356 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615654.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615654.tab 2015-01-22 08:01:22 UTC (rev 5263)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615654.tab 2015-01-22 08:34:53 UTC (rev 5264)
@@ -2,3 +2,5 @@
OMIM:615654 %615654 DEAFNESS, AUTOSOMAL DOMINANT 58; DFNA58 HP:0001751 Vestibular dysfunction IEA IEA NOT NOT OMIM-CS:HEAD AND NECK_EARS > NO VESTIBULAR DYSFUNCTION OMIM:615654 HPO:skoehler 25.02.2014
OMIM:615654 %615654 DEAFNESS, AUTOSOMAL DOMINANT 58; DFNA58 HP:0000360 Tinnitus IEA IEA rare OMIM-CS:HEAD AND NECK_EARS > TINNITUS (IN SOME PATIENTS) OMIM:615654 HPO:skoehler 25.02.2014
OMIM:615654 %615654 DEAFNESS, AUTOSOMAL DOMINANT 58; DFNA58 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT OMIM:615654 HPO:skoehler 25.02.2014
+OMIM:615654 %615654 DEAFNESS, AUTOSOMAL DOMINANT 58; DFNA58 HP:0000365 Hearing impairment IEA IEA Disease name contained:%615654 deafness, autosomal dominant OMIM:615654 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615863.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615863.tab 2015-01-22 08:01:22 UTC (rev 5263)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615863.tab 2015-01-22 08:34:53 UTC (rev 5264)
@@ -3,3 +3,5 @@
OMIM:615863 #615863 DIARRHEA 7; DIAR7 HP:0002013 Vomiting IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > VOMITING OMIM:615863 HPO:skoehler 11.07.2014
OMIM:615863 #615863 DIARRHEA 7; DIAR7 HP:0003077 Hyperlipidemia IEA IEA OMIM-CS:LABORATORY ABNORMALITIES > HYPERLIPIDEMIA OMIM:615863 HPO:skoehler 11.07.2014
OMIM:615863 #615863 DIARRHEA 7; DIAR7 HP:0003073 Hypoalbuminemia IEA IEA OMIM-CS:LABORATORY ABNORMALITIES > HYPOALBUMINEMIA OMIM:615863 HPO:skoehler 11.07.2014
+OMIM:615863 #615863 DIARRHEA 7; DIAR7 HP:0002014 Diarrhea IEA IEA Disease name contained:#615863 diarrhea 7; diar7 OMIM:615863 HPO:skoehler 21.01.2015
+
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <koe...@us...> - 2015-01-22 08:01:31
|
Revision: 5263
http://sourceforge.net/p/obo/svn/5263
Author: koehlers
Date: 2015-01-22 08:01:22 +0000 (Thu, 22 Jan 2015)
Log Message:
-----------
manually curated annotations
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-109730.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-165550.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-215600.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-226950.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-253700.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-269000.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-271550.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300123.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604187.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608027.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610019.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612922.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613162.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615085.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615191.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615760.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-109730.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-109730.tab 2015-01-21 16:27:11 UTC (rev 5262)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-109730.tab 2015-01-22 08:01:22 UTC (rev 5263)
@@ -1,3 +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:109730 AORTIC VALVE DISEASE HP:0001647 Bicuspid aortic valve IEA IEA OMIM:109730 HPO 17.02.2009
OMIM:109730 #109730 AORTIC VALVE DISEASE 1; AOVD1;;AORTIC VALVE DISEASE;;BICUSPID AORTIC VALVE; BAV;;AORTIC VALVE, BICUSPID;;AORTIC VALVE, CALCIFICATION OF;;AORTIC STENOSIS, CALCIFIC HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT FORM OMIM:109730 HPO:skoehler 29.05.2013
+OMIM:109730 #109730 AORTIC VALVE DISEASE 1; AOVD1;;AORTIC VALVE DISEASE;;BICUSPID AORTIC VALVE; BAV;;AORTIC VALVE, BICUSPID;;AORTIC VALVE, CALCIFICATION OF;;AORTIC STENOSIS, CALCIFIC HP:0001650 Aortic valve stenosis IEA IEA Disease name contained:, calcification of;;aortic stenosis, calcific OMIM:109730 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-165550.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-165550.tab 2015-01-21 16:27:11 UTC (rev 5262)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-165550.tab 2015-01-22 08:01:22 UTC (rev 5263)
@@ -2,3 +2,6 @@
OMIM:165550 OPTIC NERVE HYPOPLASIA, BILATERALOPTIC NERVE APLASIA, BILATERAL, INCLUDED HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:165550 HPO 17.02.2009
OMIM:165550 OPTIC NERVE HYPOPLASIA, BILATERALOPTIC NERVE APLASIA, BILATERAL, INCLUDED HP:0000505 Visual impairment IEA IEA OMIM:165550 HPO 17.02.2009
OMIM:165550 OPTIC NERVE HYPOPLASIA, BILATERALOPTIC NERVE APLASIA, BILATERAL, INCLUDED HP:0000609 Optic nerve hypoplasia IEA IEA OMIM:165550 HPO 17.02.2009
+OMIM:165550 OPTIC NERVE HYPOPLASIA, BILATERALOPTIC NERVE APLASIA, BILATERAL, INCLUDED HP:0012521 Optic nerve aplasia IEA IEA Disease name contained:ypoplasia, bilateraloptic nerve aplasia, bilateral, include OMIM:165550 HPO:skoehler 21.01.2015
+OMIM:165550 OPTIC NERVE HYPOPLASIA, BILATERALOPTIC NERVE APLASIA, BILATERAL, INCLUDED HP:0012795 Abnormality of the optic disc IEA IEA OMIM-CS OMIM:165550 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-215600.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-215600.tab 2015-01-21 16:27:11 UTC (rev 5262)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-215600.tab 2015-01-22 08:01:22 UTC (rev 5263)
@@ -4,4 +4,6 @@
OMIM:215600 CIRRHOSIS, FAMILIALCIRRHOSIS, FAMILIAL, WITH PULMONARY HYPERTENSION, INCLUDED HP:0001413 Micronodular cirrhosis TAS TAS OMIM:215600 HPO:skoehler Feb 17, 2009
OMIM:215600 CIRRHOSIS, FAMILIALCIRRHOSIS, FAMILIAL, WITH PULMONARY HYPERTENSION, INCLUDED HP:0001945 Fever IEA IEA OMIM:215600 HPO Feb 17, 2009
OMIM:215600 CIRRHOSIS, FAMILIALCIRRHOSIS, FAMILIAL, WITH PULMONARY HYPERTENSION, INCLUDED HP:0002040 Esophageal varices IEA IEA OMIM:215600 HPO Feb 17, 2009
-OMIM:215600 CIRRHOSIS, FAMILIALCIRRHOSIS, FAMILIAL, WITH PULMONARY HYPERTENSION, INCLUDED HP:0003270 Abdominal distention IEA IEA OMIM:215600 HPO Feb 17, 2009
+OMIM:215600 CIRRHOSIS, FAMILIALCIRRHOSIS, FAMILIAL, WITH PULMONARY HYPERTENSION, INCLUDED HP:0003270 Abdominal distention IEA IEA OMIM:215600 HPO Feb 17, 2009
+OMIM:215600 CIRRHOSIS, FAMILIALCIRRHOSIS, FAMILIAL, WITH PULMONARY HYPERTENSION, INCLUDED HP:0002092 Pulmonary hypertension IEA IEA Disease name contained:sis, familial, with pulmonary hypertension, included OMIM:215600 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-226950.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-226950.tab 2015-01-21 16:27:11 UTC (rev 5262)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-226950.tab 2015-01-22 08:01:22 UTC (rev 5263)
@@ -1,4 +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:226950 EPIPHYSEAL DYSPLASIA OF FEMORAL HEAD, MYOPIA, AND DEAFNESS HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:226950 HPO 17.02.2009
OMIM:226950 EPIPHYSEAL DYSPLASIA OF FEMORAL HEAD, MYOPIA, AND DEAFNESS HP:0000365 Hearing impairment IEA IEA OMIM:226950 HPO 17.02.2009
-OMIM:226950 EPIPHYSEAL DYSPLASIA OF FEMORAL HEAD, MYOPIA, AND DEAFNESS HP:0011003 Severe Myopia IEA IEA OMIM:226950 HPO 17.02.2009
+OMIM:226950 EPIPHYSEAL DYSPLASIA OF FEMORAL HEAD, MYOPIA, AND DEAFNESS HP:0011003 Severe Myopia IEA IEA OMIM:226950 HPO 17.02.2009
+OMIM:226950 EPIPHYSEAL DYSPLASIA OF FEMORAL HEAD, MYOPIA, AND DEAFNESS HP:0002656 Epiphyseal dysplasia IEA IEA Disease name contained:epiphyseal dysplasia of femoral head, my OMIM:226950 HPO:skoehler 21.01.2015
+OMIM:226950 EPIPHYSEAL DYSPLASIA OF FEMORAL HEAD, MYOPIA, AND DEAFNESS HP:0010574 Abnormality of the epiphysis of the femoral head IEA IEA Disease name contained:epiphyseal dysplasia of femoral head, my OMIM:226950 HPO:skoehler 21.01.2015
+
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-253700.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-253700.tab 2015-01-21 16:27:11 UTC (rev 5262)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-253700.tab 2015-01-22 08:01:22 UTC (rev 5263)
@@ -13,3 +13,5 @@
OMIM:253700 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C HP:0003713 Muscle fiber necrosis IEA IEA OMIM:253700 HPO 17.02.2009
OMIM:253700 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C HP:0005133 Right ventricular dilatation IEA IEA OMIM:253700 HPO 17.02.2009
OMIM:253700 #253700 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C;;MUSCULAR DYSTROPHY, DUCHENNE-LIKE;;DUCHENNE-LIKE MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE, TYPE 1; DMDA1;;DMDA;;ADHALIN DEFICIENCY, SECONDARY;;SARCOGLYCAN, GAMMA, DEFICIENCY OF;;SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR DYSTROPHY, NORTH AFRICANTYPE; SCARMD;;MAGHREBIAN MYOPATHY HP:0003202 Amyotrophy IEA IEA OMIM-CS:MUSCLE > MUSCLE ATROPHY OMIM:253700 HPO:skoehler 17.10.2012
+OMIM:253700 #253700 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C;;MUSCULAR DYSTROPHY, DUCHENNE-LIKE;;DUCHENNE-LIKE MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE, TYPE 1; DMDA1;;DMDA;;ADHALIN DEFICIENCY, SECONDARY;;SARCOGLYCAN, GAMMA, DEFICIENCY OF;;SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR DYSTROPHY, NORTH AFRICANTYPE; SCARMD;;MAGHREBIAN MYOPATHY HP:0003560 Muscular dystrophy IEA IEA Disease name contained:#253700 muscular dystrophy, limb-girdle, type OMIM:253700 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-269000.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-269000.tab 2015-01-21 16:27:11 UTC (rev 5262)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-269000.tab 2015-01-22 08:01:22 UTC (rev 5263)
@@ -23,3 +23,4 @@
OMIM:269000 SC PHOCOMELIA SYNDROME HP:0003974 Absent ossification/absence of radius TAS TAS OMIM:269000 HPO:probinson 03.06.2012
OMIM:269000 SC PHOCOMELIA SYNDROME HP:0003982 Absent ossification/absent ulna TAS TAS OMIM:269000 HPO:probinson 03.06.2012
OMIM:269000 #269000 SC PHOCOMELIA SYNDROME;;SC PSEUDOTHALIDOMIDE SYNDROME HP:0030084 Clinodactyly IEA IEA OMIM-CS:SKELETAL_HANDS > CLINODACTYLY OMIM:269000 HPO:skoehler 21.09.2014
+OMIM:269000 #269000 SC PHOCOMELIA SYNDROME;;SC PSEUDOTHALIDOMIDE SYNDROME HP:0009829 Phocomelia IEA IEA Disease name contained:#269000 sc phocomelia syndrome;;sc pseudo OMIM:269000 HPO:skoehler 21.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-271550.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-271550.tab 2015-01-21 16:27:11 UTC (rev 5262)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-271550.tab 2015-01-22 08:01:22 UTC (rev 5263)
@@ -11,3 +11,4 @@
OMIM:271550 SPONDYLOENCHONDRODYSPLASIA HP:0001257 Spasticity TAS TAS OMIM:271550 HPO:probinson 22.07.2012
OMIM:271550 %271550 SPONDYLOENCHONDRODYSPLASIA; SPENCD;;SPONDYLOMETAPHYSEAL DYSPLASIA WITH ENCHONDROMATOUS CHANGES;;SPONDYLOENCHONDROMATOSIS; SEM HP:0005753 Limb shortening IEA IEA OMIM-CS:GROWTH > SHORT LIMBS OMIM:271550 HPO:skoehler 17.10.2012
OMIM:271550 %271550 SPONDYLOENCHONDRODYSPLASIA; SPENCD;;SPONDYLOMETAPHYSEAL DYSPLASIA WITH ENCHONDROMATOUS CHANGES;;SPONDYLOENCHONDROMATOSIS; SEM HP:0003521 Disproportionate short-trunk short stature IEA IEA OMIM-CS:GROWTH > SHORT TRUNK OMIM:271550 HPO:skoehler 17.10.2012
+OMIM:271550 %271550 SPONDYLOENCHONDRODYSPLASIA; SPENCD;;SPONDYLOMETAPHYSEAL DYSPLASIA WITH ENCHONDROMATOUS CHANGES;;SPONDYLOENCHONDROMATOSIS; SEM HP:0002657 Spondylometaphyseal dysplasia IEA IEA Disease name contained:odysplasia; spencd;;spondylometaphyseal dysplasia with enchondromatou OMIM:271550 HPO:skoehler 21.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300123.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300123.tab 2015-01-21 16:27:11 UTC (rev 5262)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300123.tab 2015-01-22 08:01:22 UTC (rev 5263)
@@ -4,4 +4,6 @@
OMIM:300123 #300123 MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISMMENTAL RETARDATION, X-LINKED, WITH ISOLATED GROWTH HORMONE DEFICIENCY,INCLUDED; MRGH, INCLUDED HP:0001417 X-linked inheritance IEA IEA OMIM:300123 HPO:skoehler Jan 9, 2013
OMIM:300123 #300123 MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISMMENTAL RETARDATION, X-LINKED, WITH ISOLATED GROWTH HORMONE DEFICIENCY,INCLUDED; MRGH, INCLUDED HP:0001263 Global developmental delay IEA IEA OMIM:300123 HPO:skoehler Jan 9, 2013
OMIM:300123 #300123 MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISMMENTAL RETARDATION, X-LINKED, WITH ISOLATED GROWTH HORMONE DEFICIENCY,INCLUDED; MRGH, INCLUDED HP:0000821 Hypothyroidism IEA IEA OMIM:300123 HPO:skoehler Jan 9, 2013
-OMIM:300123 #300123 MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISMMENTAL RETARDATION, X-LINKED, WITH ISOLATED GROWTH HORMONE DEFICIENCY,INCLUDED; MRGH, INCLUDED HP:0004322 Short stature IEA IEA OMIM:300123 HPO:skoehler Jan 9, 2013
+OMIM:300123 #300123 MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISMMENTAL RETARDATION, X-LINKED, WITH ISOLATED GROWTH HORMONE DEFICIENCY,INCLUDED; MRGH, INCLUDED HP:0004322 Short stature IEA IEA OMIM:300123 HPO:skoehler Jan 9, 2013
+OMIM:300123 #300123 MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISMMENTAL RETARDATION, X-LINKED, WITH ISOLATED GROWTH HORMONE DEFICIENCY,INCLUDED; MRGH, INCLUDED HP:0000824 Growth hormone deficiency IEA IEA Disease name contained:nked, with isolated growth hormone deficiency,included; mrgh, inc OMIM:300123 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604187.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604187.tab 2015-01-21 16:27:11 UTC (rev 5262)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604187.tab 2015-01-22 08:01:22 UTC (rev 5263)
@@ -17,3 +17,5 @@
OMIM:604187 #604187 SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; SPG10;;SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY HP:0003812 Phenotypic variability IEA IEA OMIM-CS:MISCELLANEOUS > VARIABLE PHENOTYPE OMIM:604187 HPO:skoehler 17.10.2012
OMIM:604187 #604187 SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; SPG10;;SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY HP:0002936 Distal sensory impairment IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > DISTAL SENSORY IMPAIRMENT OMIM:604187 HPO:skoehler 17.10.2012
OMIM:604187 #604187 SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; SPG10;;SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY HP:0001300 Parkinsonism IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PARKINSONISM (IN SOME PATIENTS) OMIM:604187 HPO:skoehler 18.11.2012
+OMIM:604187 #604187 SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; SPG10;;SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY HP:0001258 Spastic paraplegia IEA IEA Disease name contained:al dominant; spg10;;spastic paraplegia 10 with or without OMIM:604187 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608027.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608027.tab 2015-01-21 16:27:11 UTC (rev 5262)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608027.tab 2015-01-22 08:01:22 UTC (rev 5263)
@@ -1,7 +1,6 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
OMIM:608027 CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:608027 HPO Feb 17, 2009
OMIM:608027 CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY HP:0000248 Brachycephaly IEA IEA OMIM:608027 HPO Feb 17, 2009
-OMIM:608027 CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY HP:0000252 Microcephaly IEA IEA OMIM:608027 HPO Feb 17, 2009
OMIM:608027 CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY HP:0000369 Low-set ears IEA IEA OMIM:608027 HPO Feb 17, 2009
OMIM:608027 CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY HP:0000520 Proptosis IEA IEA OMIM:608027 HPO Feb 17, 2009
OMIM:608027 CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY HP:0000648 Optic atrophy IEA IEA OMIM:608027 HPO Feb 17, 2009
@@ -28,4 +27,7 @@
OMIM:608027 %608027 PONTOCEREBELLAR HYPOPLASIA, TYPE 3; PCH3;;CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY; CLAM;;PCH WITH OPTIC ATROPHY HP:0002079 Hypoplasia of the corpus callosum TAS TAS OMIM:608027 HPO:skoehler Oct 17, 2012
OMIM:608027 %608027 PONTOCEREBELLAR HYPOPLASIA, TYPE 3; PCH3;;CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY; CLAM;;PCH WITH OPTIC ATROPHY HP:0002365 Hypoplasia of the brainstem IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SMALL BRAINSTEM OMIM:608027 HPO:skoehler Apr 4, 2014
OMIM:608027 CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY HP:0001321 Cerebellar hypoplasia TAS TAS OMIM:608027 HPO:skoehler Apr 22, 2014
-OMIM:608027 CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY HP:0012110 Hypoplasia of the pons TAS TAS OMIM:608027 HPO:skoehler Apr 22, 2014
+OMIM:608027 CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY HP:0012110 Hypoplasia of the pons TAS TAS OMIM:608027 HPO:skoehler Apr 22, 2014
+OMIM:608027 CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY HP:0000253 Progressive microcephaly IEA IEA Disease name contained:bellar atrophy with progressive microcephaly OMIM:608027 HPO:skoehler 21.01.2015
+OMIM:608027 CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY HP:0001272 Cerebellar atrophy IEA IEA Disease name contained:cerebellar atrophy with progressive mi OMIM:608027 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610019.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610019.tab 2015-01-21 16:27:11 UTC (rev 5262)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610019.tab 2015-01-22 08:01:22 UTC (rev 5263)
@@ -1,2 +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:610019 #610019 CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2; CATC2 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:610019 HPO:skoehler 17.10.2012
+OMIM:610019 #610019 CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2; CATC2 HP:0000518 Cataract IEA IEA Disease name contained:#610019 cataract, autosomal recessiv OMIM:610019 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612922.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612922.tab 2015-01-21 16:27:11 UTC (rev 5262)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612922.tab 2015-01-22 08:01:22 UTC (rev 5263)
@@ -11,3 +11,5 @@
OMIM:612922 #612922 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2; AHUS2;;AHUS, SUSCEPTIBILITY TO, 2 HP:0003138 Increased blood urea nitrogen (BUN) IEA IEA OMIM-CS:LABORATORY ABNORMALITIES > INCREASED BLOOD UREA NITROGEN (BUN) OMIM:612922 HPO:skoehler 17.10.2012
OMIM:612922 #612922 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2; AHUS2;;AHUS, SUSCEPTIBILITY TO, 2 HP:0003259 Elevated serum creatinine IEA IEA OMIM-CS:LABORATORY ABNORMALITIES > INCREASED CREATININE OMIM:612922 HPO:skoehler 17.10.2012
OMIM:612922 #612922 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2; AHUS2;;AHUS, SUSCEPTIBILITY TO, 2 HP:0000822 Hypertension IEA IEA variable OMIM-CS:CARDIOVASCULAR_VASCULAR > HYPERTENSION (VARIABLE) OMIM:612922 HPO:skoehler 28.11.2012
+OMIM:612922 #612922 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2; AHUS2;;AHUS, SUSCEPTIBILITY TO, 2 HP:0005575 Hemolytic-uremic syndrome IEA IEA Disease name contained:#612922 hemolytic uremic syndrome, atypical, suscepti OMIM:612922 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613162.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613162.tab 2015-01-21 16:27:11 UTC (rev 5262)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613162.tab 2015-01-22 08:01:22 UTC (rev 5263)
@@ -13,3 +13,5 @@
OMIM:613162 #613162 SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE; SPG45 HP:0006989 Dysplastic corpus callosum IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DYSPLASTIC CORPUS CALLOSUM OMIM:613162 HPO:skoehler 24.03.2014
OMIM:613162 #613162 SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE; SPG45 HP:0002079 Hypoplasia of the corpus callosum IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > THIN CORPUS CALLOSUM OMIM:613162 HPO:skoehler 24.03.2014
OMIM:613162 #613162 SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE; SPG45 HP:0001762 Talipes equinovarus IEA IEA rare OMIM-CS:SKELETAL_FEET > PES EQUINOVARUS (IN SOME PATIENTS) OMIM:613162 HPO:skoehler 24.03.2014
+OMIM:613162 #613162 SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE; SPG45 HP:0001258 Spastic paraplegia IEA IEA Disease name contained:#613162 spastic paraplegia 45, autosomal reces OMIM:613162 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615085.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615085.tab 2015-01-21 16:27:11 UTC (rev 5262)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615085.tab 2015-01-22 08:01:22 UTC (rev 5263)
@@ -11,3 +11,5 @@
OMIM:615085 #615085 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:615085 HPO:skoehler 25.02.2013
OMIM:615085 #615085 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8 HP:0000256 Macrocephaly IEA IEA OMIM-CS:SKELETAL_SKULL > MACROCEPHALY OMIM:615085 HPO:skoehler 25.02.2013
OMIM:615085 #615085 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8 HP:0010628 Facial palsy IEA IEA OMIM-CS:HEAD AND NECK_FACE > FACIAL NERVE PALSY OMIM:615085 HPO:skoehler 26.11.2014
+OMIM:615085 #615085 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8 HP:0011002 Osteopetrosis IEA IEA Disease name contained:#615085 osteopetrosis, autosomal recessiv OMIM:615085 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615191.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615191.tab 2015-01-21 16:27:11 UTC (rev 5262)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615191.tab 2015-01-22 08:01:22 UTC (rev 5263)
@@ -10,3 +10,5 @@
OMIM:615191 #615191 LISSENCEPHALY 5; LIS5 HP:0002500 Abnormality of the cerebral white matter IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > WHITE MATTER ABNORMALITIES OMIM:615191 HPO:skoehler 03.05.2013
OMIM:615191 #615191 LISSENCEPHALY 5; LIS5 HP:0200135 Macrocephaly due to hydrocephalus IEA IEA OMIM-CS:HEAD AND NECK_HEAD > MACROCEPHALY DUE TO HYDROCEPHALUS OMIM:615191 HPO:skoehler 12.06.2013
OMIM:615191 #615191 LISSENCEPHALY 5; LIS5 HP:0001252 Muscular hypotonia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPOTONIA OMIM:615191 HPO:skoehler 26.11.2014
+OMIM:615191 #615191 LISSENCEPHALY 5; LIS5 HP:0001339 Lissencephaly IEA IEA Disease name contained:#615191 lissencephaly 5; lis5 OMIM:615191 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615760.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615760.tab 2015-01-21 16:27:11 UTC (rev 5262)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615760.tab 2015-01-22 08:01:22 UTC (rev 5263)
@@ -17,3 +17,4 @@
OMIM:615760 #615760 MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLARATROPHY; MSCCA HP:0001252 Muscular hypotonia IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > HYPOTONIA OMIM:615760 HPO:skoehler 26.11.2014
OMIM:615760 #615760 MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLARATROPHY; MSCCA HP:0001252 Muscular hypotonia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPOTONIA OMIM:615760 HPO:skoehler 26.11.2014
OMIM:615760 #615760 MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLARATROPHY; MSCCA HP:0009879 Cortical gyral simplification IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SIMPLIFIED GYRAL PATTERN (IN SOME PATIENTS) OMIM:615760 HPO:skoehler 26.11.2014
+OMIM:615760 #615760 MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLARATROPHY; MSCCA HP:0000253 Progressive microcephaly IEA IEA Disease name contained:#615760 microcephaly, progressive, with seizures and OMIM:615760 HPO:skoehler 21.01.2015
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <koe...@us...> - 2015-01-21 16:27:19
|
Revision: 5262
http://sourceforge.net/p/obo/svn/5262
Author: koehlers
Date: 2015-01-21 16:27:11 +0000 (Wed, 21 Jan 2015)
Log Message:
-----------
annotation updates based on OMIM title
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-121050.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-158300.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610125.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615198.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615270.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615575.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615767.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-121050.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-121050.tab 2015-01-21 15:37:32 UTC (rev 5261)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-121050.tab 2015-01-21 16:27:11 UTC (rev 5262)
@@ -33,4 +33,6 @@
MIM:121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0009698 Contractures of the proximal interphalangeal joints of the fingers IEA IEA OMIM:121050 HPO Feb 17, 2009
MIM:121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0009901 Crumpled ear TAS TAS 78% OMIM:121050 HPO:probinson Jun 20, 2010
MIM:121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0010499 Patellar subluxation IEA IEA OMIM:121050 HPO:skoehler Jun 18, 2010
-MIM:121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0002751 Kyphoscoliosis HP:0003577 Congenital onset TAS TAS 45% OMIM:121050 HPO:probinson Sep 18, 2012
+MIM:121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0002751 Kyphoscoliosis HP:0003577 Congenital onset TAS TAS 45% OMIM:121050 HPO:probinson Sep 18, 2012
+OMIM:121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0005684 Distal arthrogryposis IEA IEA Disease name contained:ural arachnodactyly|distal arthrogryposis type 9|http://www.o OMIM:121050 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-158300.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-158300.tab 2015-01-21 15:37:32 UTC (rev 5261)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-158300.tab 2015-01-21 16:27:11 UTC (rev 5262)
@@ -14,4 +14,5 @@
OMIM:158300 TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME HP:0004322 Short stature IEA IEA OMIM:158300 HPO 17.02.2009
OMIM:158300 TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME HP:0010621 Cutaneous syndactyly of toes IEA IEA OMIM:158300 HPO 17.02.2009
OMIM:158300 #158300 ARTHROGRYPOSIS, DISTAL, TYPE 7; DA7;;TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME;;MOUTH, INABILITY TO OPEN COMPLETELY, AND SHORT FINGER-FLEXOR TENDONS;;HECHT SYNDROME HP:0011968 Feeding difficulties IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > FEEDING PROBLEMS OMIM:158300 HPO:skoehler 17.10.2012
-OMIM:158300 #158300 ARTHROGRYPOSIS, DISTAL, TYPE 7; DA7;;TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME;;MOUTH, INABILITY TO OPEN COMPLETELY, AND SHORT FINGER-FLEXOR TENDONS;;HECHT SYNDROME HP:0002804 Arthrogryposis multiplex congenita IEA IEA Disease name contained:#158300 arthrogryposis, distal, OMIM:158300 HPO:skoehler 19.01.2015
+OMIM:158300 #158300 ARTHROGRYPOSIS, DISTAL, TYPE 7; DA7;;TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME;;MOUTH, INABILITY TO OPEN COMPLETELY, AND SHORT FINGER-FLEXOR TENDONS;;HECHT SYNDROME HP:0005684 Distal arthrogryposis IEA IEA Disease name contained:dons;;hecht syndromedistal arthrogryposis type 7|dutch-kentuc OMIM:158300 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610125.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610125.tab 2015-01-21 15:37:32 UTC (rev 5261)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610125.tab 2015-01-21 16:27:11 UTC (rev 5262)
@@ -13,3 +13,5 @@
OMIM:610125 #610125 MICROPHTHALMIA, SYNDROMIC 5; MCOPS5RETINAL DYSTROPHY, EARLY-ONSET, AND PITUITARY DYSFUNCTION, INCLUDED HP:0000175 Cleft palate IEA IEA rare OMIM-CS:HEAD AND NECK_MOUTH > CLEFT PALATE (IN SOME PATIENTS) OMIM:610125 HPO:skoehler 18.11.2012
OMIM:610125 #610125 MICROPHTHALMIA, SYNDROMIC 5; MCOPS5RETINAL DYSTROPHY, EARLY-ONSET, AND PITUITARY DYSFUNCTION, INCLUDED HP:0011755 Ectopic posterior pituitary IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ECTOPIC POSTERIOR PITUITARY (IN SOME PATIENTS) OMIM:610125 HPO:skoehler 18.11.2012
OMIM:610125 #610125 MICROPHTHALMIA, SYNDROMIC 5; MCOPS5RETINAL DYSTROPHY, EARLY-ONSET, AND PITUITARY DYSFUNCTION, INCLUDED HP:0001252 Muscular hypotonia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPOTONIA OMIM:610125 HPO:skoehler 26.11.2014
+OMIM:610125 #610125 MICROPHTHALMIA, SYNDROMIC 5; MCOPS5RETINAL DYSTROPHY, EARLY-ONSET, AND PITUITARY DYSFUNCTION, INCLUDED HP:0000568 Microphthalmos IEA IEA Disease name contained:#610125 microphthalmia, syndromic 5; mcops OMIM:610125 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615198.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615198.tab 2015-01-21 15:37:32 UTC (rev 5261)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615198.tab 2015-01-21 16:27:11 UTC (rev 5262)
@@ -7,3 +7,4 @@
OMIM:615198 %615198 OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA; OSMD HP:0001250 Seizures IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES (IN ONE PATIENT) OMIM:615198 HPO:skoehler 18.11.2013
OMIM:615198 %615198 OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA; OSMD HP:0100923 Clavicular sclerosis IEA IEA OMIM-CS:CHEST_RIBS, STERNUM, CLAVICLES, AND SCAPULAE > OSTEOSCLEROSIS OF THE CLAVICLES OMIM:615198 HPO:skoehler 04.04.2014
OMIM:615198 %615198 OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA; OSMD HP:0001252 Muscular hypotonia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPOTONIA OMIM:615198 HPO:skoehler 26.11.2014
+OMIM:615198 %615198 OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA; OSMD HP:0100255 Metaphyseal dysplasia IEA IEA Disease name contained:5198 osteosclerotic metaphyseal dysplasia; osmd OMIM:615198 HPO:skoehler 21.01.2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615270.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615270.tab 2015-01-21 15:37:32 UTC (rev 5261)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615270.tab 2015-01-21 16:27:11 UTC (rev 5262)
@@ -1,3 +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:615270 #615270 HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA; HH20 HP:0000938 Osteopenia IEA IEA rare OMIM-CS:SKELETAL > OSTEOPENIA (IN SOME PATIENTS) OMIM:615270 HPO:skoehler 18.08.2013
OMIM:615270 #615270 HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA; HH20 HP:0000939 Osteoporosis IEA IEA rare OMIM-CS:SKELETAL > OSTEOPOROSIS (IN SOME PATIENTS) OMIM:615270 HPO:skoehler 18.08.2013
+OMIM:615270 #615270 HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA; HH20 HP:0000135 Hypogonadism IEA IEA Disease name contained:70 hypogonadotropic hypogonadism 20 with or without OMIM:615270 HPO:skoehler 21.01.2015
+OMIM:615270 #615270 HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA; HH20 HP:0000823 Delayed puberty IEA IEA OMIM-CS OMIM:615270 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615575.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615575.tab 2015-01-21 15:37:32 UTC (rev 5261)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615575.tab 2015-01-21 16:27:11 UTC (rev 5262)
@@ -9,3 +9,5 @@
OMIM:615575 #615575 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID; HMN2D;;HMN IID;;NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IID; DHMN2D;;SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL DOMINANT, CALF-PREDOMINANT HP:0007340 Lower limb muscle weakness IEA IEA MODIFIER:PROXIMAL;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > LOWER LIMB WEAKNESS, PROXIMAL OMIM:615575 HPO:skoehler 28.01.2014
OMIM:615575 #615575 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID; HMN2D;;HMN IID;;NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IID; DHMN2D;;SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL DOMINANT, CALF-PREDOMINANT HP:0001761 Pes cavus IEA IEA rare OMIM-CS:SKELETAL_FEET > PES CAVUS (IN SOME PATIENTS) OMIM:615575 HPO:skoehler 28.01.2014
OMIM:615575 #615575 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID; HMN2D;;HMN IID;;NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IID; DHMN2D;;SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL DOMINANT, CALF-PREDOMINANT HP:0009005 Weakness of the intrinsic hand muscles IEA IEA OMIM-CS:SKELETAL_HANDS > WEAKNESS OF THE INTRINSIC HAND MUSCLES OMIM:615575 HPO:skoehler 28.01.2014
+OMIM:615575 #615575 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID; HMN2D;;HMN IID;;NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IID; DHMN2D;;SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL DOMINANT, CALF-PREDOMINANT HP:0007269 Spinal muscular atrophy IEA IEA Disease name contained:, type iid; dhmn2d;;spinal muscular atrophy, distal, autosomal OMIM:615575 HPO:skoehler 21.01.2015
+
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615767.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615767.tab 2015-01-21 15:37:32 UTC (rev 5261)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615767.tab 2015-01-21 16:27:11 UTC (rev 5262)
@@ -6,3 +6,5 @@
OMIM:615767 #615767 IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11;;IL21 DEFICIENCY HP:0004313 Hypogammaglobulinemia IEA IEA OMIM-CS:IMMUNOLOGY > HYPOGAMMAGLOBULINEMIA OMIM:615767 HPO:skoehler 24.08.2014
OMIM:615767 #615767 IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11;;IL21 DEFICIENCY HP:0002205 Recurrent respiratory infections IEA IEA OMIM-CS:RESPIRATORY > RECURRENT RESPIRATORY INFECTIONS OMIM:615767 HPO:skoehler 24.08.2014
OMIM:615767 #615767 IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11;;IL21 DEFICIENCY HP:0011839 Abnormality of T cell number IEA IEA NOT NOT OMIM-CS:IMMUNOLOGY > NORMAL NUMBERS OF T CELLS OMIM:615767 HPO:skoehler 27.11.2014
+OMIM:615767 #615767 IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11;;IL21 DEFICIENCY HP:0002721 Immunodeficiency IEA IEA Disease name contained:#615767 immunodeficiency, common variable, 1 OMIM:615767 HPO:skoehler 21.01.2015
+
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