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From: <pr...@us...> - 2015-03-07 08:17:49
|
Revision: 5319
http://sourceforge.net/p/obo/svn/5319
Author: probins
Date: 2015-03-07 08:17:40 +0000 (Sat, 07 Mar 2015)
Log Message:
-----------
Reannotation of some abn of metabolism entries
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-155255.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-155310.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-156190.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-156310.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-158000.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-158170.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-158250.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-155255.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-155255.tab 2015-03-02 07:01:31 UTC (rev 5318)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-155255.tab 2015-03-07 08:17:40 UTC (rev 5319)
@@ -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:155255 MEDULLOBLASTOMA HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:155255 HPO 17.02.2009
-OMIM:155255 MEDULLOBLASTOMA HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:155255 HPO 17.02.2009
-OMIM:155255 MEDULLOBLASTOMA HP:0002885 Medulloblastoma IEA IEA OMIM:155255 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:155255 MEDULLOBLASTOMA HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:155255 HPO:probinson Feb 17, 2009
+OMIM:155255 MEDULLOBLASTOMA HP:0002885 Medulloblastoma TAS TAS OMIM:155255 HPO:probinson Feb 17, 2009
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-155310.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-155310.tab 2015-03-02 07:01:31 UTC (rev 5318)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-155310.tab 2015-03-07 08:17:40 UTC (rev 5319)
@@ -1,16 +1,15 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:155310 MEGADUODENUM AND/OR MEGACYSTISPSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:155310 HPO 17.02.2009
-OMIM:155310 MEGADUODENUM AND/OR MEGACYSTISPSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL HP:0000076 Vesicoureteral reflux IEA IEA OMIM:155310 HPO 17.02.2009
-OMIM:155310 MEGADUODENUM AND/OR MEGACYSTISPSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:155310 HPO 17.02.2009
-OMIM:155310 MEGADUODENUM AND/OR MEGACYSTISPSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL HP:0002015 Dysphagia IEA IEA OMIM:155310 HPO 17.02.2009
-OMIM:155310 MEGADUODENUM AND/OR MEGACYSTISPSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL HP:0002251 Aganglionic megacolon IEA IEA OMIM:155310 HPO 17.02.2009
-OMIM:155310 %155310 MEGADUODENUM AND/OR MEGACYSTISPSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL;;VISCERAL MYOPATHY, FAMILIAL HP:0010956 Fetal megacystis IEA IEA OMIM-CS:GU > MEGACYSTIS OMIM:155310 HPO:skoehler 17.10.2012
-OMIM:155310 %155310 MEGADUODENUM AND/OR MEGACYSTISPSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL;;VISCERAL MYOPATHY, FAMILIAL HP:0000021 Megacystis IEA IEA OMIM-CS:GU > MEGACYSTIS OMIM:155310 HPO:skoehler 28.01.2014
-OMIM:155310 #155310 VISCERAL MYOPATHY; VSCM;;MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME; MMIH;;INFANTILE VISCERAL MYOPATHY;;MEGADUODENUM AND/OR MEGACYSTIS;;BERDON SYNDROME;;PSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL HP:0002019 Constipation IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > CONSTIPATION OMIM:155310 HPO:skoehler 24.06.2014
-OMIM:155310 #155310 VISCERAL MYOPATHY; VSCM;;MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME; MMIH;;INFANTILE VISCERAL MYOPATHY;;MEGADUODENUM AND/OR MEGACYSTIS;;BERDON SYNDROME;;PSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL HP:0002014 Diarrhea IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > DIARRHEA OMIM:155310 HPO:skoehler 24.06.2014
-OMIM:155310 #155310 VISCERAL MYOPATHY; VSCM;;MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME; MMIH;;INFANTILE VISCERAL MYOPATHY;;MEGADUODENUM AND/OR MEGACYSTIS;;BERDON SYNDROME;;PSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL HP:0004395 Malnutrition IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > MALNUTRITION OMIM:155310 HPO:skoehler 24.06.2014
-OMIM:155310 #155310 VISCERAL MYOPATHY; VSCM;;MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME; MMIH;;INFANTILE VISCERAL MYOPATHY;;MEGADUODENUM AND/OR MEGACYSTIS;;BERDON SYNDROME;;PSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL HP:0004388 Microcolon IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > MICROCOLON OMIM:155310 HPO:skoehler 24.06.2014
-OMIM:155310 #155310 VISCERAL MYOPATHY; VSCM;;MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME; MMIH;;INFANTILE VISCERAL MYOPATHY;;MEGADUODENUM AND/OR MEGACYSTIS;;BERDON SYNDROME;;PSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL HP:0002013 Vomiting IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > VOMITING OMIM:155310 HPO:skoehler 24.06.2014
-OMIM:155310 #155310 VISCERAL MYOPATHY; VSCM;;MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME; MMIH;;INFANTILE VISCERAL MYOPATHY;;MEGADUODENUM AND/OR MEGACYSTIS;;BERDON SYNDROME;;PSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL HP:0001733 Pancreatitis IEA IEA rare OMIM-CS:ABDOMEN_PANCREAS > PANCREATITIS (RARE) OMIM:155310 HPO:skoehler 24.06.2014
-OMIM:155310 #155310 VISCERAL MYOPATHY; VSCM;;MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME; MMIH;;INFANTILE VISCERAL MYOPATHY;;MEGADUODENUM AND/OR MEGACYSTIS;;BERDON SYNDROME;;PSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL HP:0000126 Hydronephrosis IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > HYDRONEPHROSIS OMIM:155310 HPO:skoehler 24.06.2014
-OMIM:155310 #155310 VISCERAL MYOPATHY; VSCM;;MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME; MMIH;;INFANTILE VISCERAL MYOPATHY;;MEGADUODENUM AND/OR MEGACYSTIS;;BERDON SYNDROME;;PSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL HP:0001561 Polyhydramnios IEA IEA OMIM-CS:PRENATAL MANIFESTATIONS_AMNIOTIC FLUID > POLYHYDRAMNIOS OMIM:155310 HPO:skoehler 24.06.2014
+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:155310 MEGADUODENUM AND/OR MEGACYSTISPSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:155310 HPO Feb 17, 2009
+OMIM:155310 MEGADUODENUM AND/OR MEGACYSTISPSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL HP:0000076 Vesicoureteral reflux IEA IEA OMIM:155310 HPO Feb 17, 2009
+OMIM:155310 MEGADUODENUM AND/OR MEGACYSTISPSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL HP:0002015 Dysphagia IEA IEA OMIM:155310 HPO Feb 17, 2009
+OMIM:155310 MEGADUODENUM AND/OR MEGACYSTISPSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL HP:0002251 Aganglionic megacolon IEA IEA OMIM:155310 HPO Feb 17, 2009
+OMIM:155310 %155310 MEGADUODENUM AND/OR MEGACYSTISPSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL;;VISCERAL MYOPATHY, FAMILIAL HP:0010956 Fetal megacystis IEA IEA OMIM-CS:GU > MEGACYSTIS OMIM:155310 HPO:skoehler Oct 17, 2012
+OMIM:155310 %155310 MEGADUODENUM AND/OR MEGACYSTISPSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL;;VISCERAL MYOPATHY, FAMILIAL HP:0000021 Megacystis IEA IEA OMIM-CS:GU > MEGACYSTIS OMIM:155310 HPO:skoehler Jan 28, 2014
+OMIM:155310 #155310 VISCERAL MYOPATHY; VSCM;;MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME; MMIH;;INFANTILE VISCERAL MYOPATHY;;MEGADUODENUM AND/OR MEGACYSTIS;;BERDON SYNDROME;;PSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL HP:0002019 Constipation IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > CONSTIPATION OMIM:155310 HPO:skoehler Jun 24, 2014
+OMIM:155310 #155310 VISCERAL MYOPATHY; VSCM;;MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME; MMIH;;INFANTILE VISCERAL MYOPATHY;;MEGADUODENUM AND/OR MEGACYSTIS;;BERDON SYNDROME;;PSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL HP:0002014 Diarrhea IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > DIARRHEA OMIM:155310 HPO:skoehler Jun 24, 2014
+OMIM:155310 #155310 VISCERAL MYOPATHY; VSCM;;MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME; MMIH;;INFANTILE VISCERAL MYOPATHY;;MEGADUODENUM AND/OR MEGACYSTIS;;BERDON SYNDROME;;PSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL HP:0004395 Malnutrition IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > MALNUTRITION OMIM:155310 HPO:skoehler Jun 24, 2014
+OMIM:155310 #155310 VISCERAL MYOPATHY; VSCM;;MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME; MMIH;;INFANTILE VISCERAL MYOPATHY;;MEGADUODENUM AND/OR MEGACYSTIS;;BERDON SYNDROME;;PSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL HP:0004388 Microcolon IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > MICROCOLON OMIM:155310 HPO:skoehler Jun 24, 2014
+OMIM:155310 #155310 VISCERAL MYOPATHY; VSCM;;MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME; MMIH;;INFANTILE VISCERAL MYOPATHY;;MEGADUODENUM AND/OR MEGACYSTIS;;BERDON SYNDROME;;PSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL HP:0002013 Vomiting IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > VOMITING OMIM:155310 HPO:skoehler Jun 24, 2014
+OMIM:155310 #155310 VISCERAL MYOPATHY; VSCM;;MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME; MMIH;;INFANTILE VISCERAL MYOPATHY;;MEGADUODENUM AND/OR MEGACYSTIS;;BERDON SYNDROME;;PSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL HP:0001733 Pancreatitis IEA IEA rare OMIM-CS:ABDOMEN_PANCREAS > PANCREATITIS (RARE) OMIM:155310 HPO:skoehler Jun 24, 2014
+OMIM:155310 #155310 VISCERAL MYOPATHY; VSCM;;MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME; MMIH;;INFANTILE VISCERAL MYOPATHY;;MEGADUODENUM AND/OR MEGACYSTIS;;BERDON SYNDROME;;PSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL HP:0000126 Hydronephrosis IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > HYDRONEPHROSIS OMIM:155310 HPO:skoehler Jun 24, 2014
+OMIM:155310 #155310 VISCERAL MYOPATHY; VSCM;;MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME; MMIH;;INFANTILE VISCERAL MYOPATHY;;MEGADUODENUM AND/OR MEGACYSTIS;;BERDON SYNDROME;;PSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL HP:0001561 Polyhydramnios IEA IEA OMIM-CS:PRENATAL MANIFESTATIONS_AMNIOTIC FLUID > POLYHYDRAMNIOS OMIM:155310 HPO:skoehler Jun 24, 2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-156190.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-156190.tab 2015-03-02 07:01:31 UTC (rev 5318)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-156190.tab 2015-03-07 08:17:40 UTC (rev 5319)
@@ -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:156190 MENTAL AND GROWTH RETARDATION WITH AMBLYOPIA HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:156190 HPO 17.02.2009
-OMIM:156190 MENTAL AND GROWTH RETARDATION WITH AMBLYOPIA HP:0000646 Amblyopia IEA IEA OMIM:156190 HPO 17.02.2009
-OMIM:156190 MENTAL AND GROWTH RETARDATION WITH AMBLYOPIA HP:0001249 Intellectual disability IEA IEA OMIM:156190 HPO 17.02.2009
-OMIM:156190 MENTAL AND GROWTH RETARDATION WITH AMBLYOPIA HP:0001510 Growth delay IEA IEA OMIM:156190 HPO 17.02.2009
-OMIM:156190 MENTAL AND GROWTH RETARDATION WITH AMBLYOPIA HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:156190 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:156190 MENTAL AND GROWTH RETARDATION WITH AMBLYOPIA HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:156190 HPO:probinson Feb 17, 2009
+OMIM:156190 MENTAL AND GROWTH RETARDATION WITH AMBLYOPIA HP:0000646 Amblyopia TAS TAS OMIM:156190 HPO:probinson Feb 17, 2009
+OMIM:156190 MENTAL AND GROWTH RETARDATION WITH AMBLYOPIA HP:0001249 Intellectual disability TAS TAS OMIM:156190 HPO:probinson Feb 17, 2009
+OMIM:156190 MENTAL AND GROWTH RETARDATION WITH AMBLYOPIA HP:0001510 Growth delay TAS TAS OMIM:156190 HPO:probinson Feb 17, 2009
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-156310.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-156310.tab 2015-03-02 07:01:31 UTC (rev 5318)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-156310.tab 2015-03-07 08:17:40 UTC (rev 5319)
@@ -1,10 +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:156310 METACHROMATIC LEUKODYSTROPHY, ADULT-ONSET, WITH NORMAL ARYLSULFATASEA HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:156310 HPO Feb 17, 2009
-OMIM:156310 METACHROMATIC LEUKODYSTROPHY, ADULT-ONSET, WITH NORMAL ARYLSULFATASEA HP:0000012 Urinary urgency IEA IEA OMIM:156310 HPO Feb 17, 2009
-OMIM:156310 METACHROMATIC LEUKODYSTROPHY, ADULT-ONSET, WITH NORMAL ARYLSULFATASEA HP:0000020 Urinary incontinence IEA IEA OMIM:156310 HPO Feb 17, 2009
-OMIM:156310 METACHROMATIC LEUKODYSTROPHY, ADULT-ONSET, WITH NORMAL ARYLSULFATASEA HP:0000818 Abnormality of the endocrine system IEA IEA OMIM:156310 HPO Feb 17, 2009
-OMIM:156310 METACHROMATIC LEUKODYSTROPHY, ADULT-ONSET, WITH NORMAL ARYLSULFATASEA HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:156310 HPO Feb 17, 2009
-OMIM:156310 METACHROMATIC LEUKODYSTROPHY, ADULT-ONSET, WITH NORMAL ARYLSULFATASEA HP:0002615 Hypotension IEA IEA OMIM:156310 HPO:skoehler Jun 20, 2010
+OMIM:156310 METACHROMATIC LEUKODYSTROPHY, ADULT-ONSET, WITH NORMAL ARYLSULFATASEA HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:156310 HPO Feb 17, 2009
+OMIM:156310 METACHROMATIC LEUKODYSTROPHY, ADULT-ONSET, WITH NORMAL ARYLSULFATASEA HP:0000012 Urinary urgency TAS TAS OMIM:156310 HPO Feb 17, 2009
+OMIM:156310 METACHROMATIC LEUKODYSTROPHY, ADULT-ONSET, WITH NORMAL ARYLSULFATASEA HP:0000020 Urinary incontinence TAS TAS OMIM:156310 HPO Feb 17, 2009
+OMIM:156310 METACHROMATIC LEUKODYSTROPHY, ADULT-ONSET, WITH NORMAL ARYLSULFATASEA HP:0002615 Hypotension TAS TAS OMIM:156310 HPO:skoehler Jun 20, 2010
OMIM:156310 METACHROMATIC LEUKODYSTROPHY, ADULT-ONSET, WITH NORMAL ARYLSULFATASEA HP:0003581 Adult onset TAS TAS OMIM:156310 HPO:skoehler Feb 17, 2009
-OMIM:156310 METACHROMATIC LEUKODYSTROPHY, ADULT-ONSET, WITH NORMAL ARYLSULFATASEA HP:0006926 Metachromatic leukodystrophy variant HP:0003581 Adult onset IEA IEA OMIM:156310 HPO Feb 17, 2009
-OMIM:156310 METACHROMATIC LEUKODYSTROPHY, ADULT-ONSET, WITH NORMAL ARYLSULFATASEA HP:0009830 Peripheral neuropathy IEA IEA OMIM:156310 HPO:skoehler Jun 20, 2010
+OMIM:156310 METACHROMATIC LEUKODYSTROPHY, ADULT-ONSET, WITH NORMAL ARYLSULFATASEA HP:0006926 Metachromatic leukodystrophy variant HP:0003581 Adult onset TAS TAS OMIM:156310 HPO Feb 17, 2009
+OMIM:156310 METACHROMATIC LEUKODYSTROPHY, ADULT-ONSET, WITH NORMAL ARYLSULFATASEA HP:0002270 Abnormality of the autonomic nervous system TAS TAS OMIM:156310 HPO:skoehler Jun 20, 2010
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-158000.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-158000.tab 2015-03-02 07:01:31 UTC (rev 5318)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-158000.tab 2015-03-07 08:17:40 UTC (rev 5319)
@@ -1,13 +1,12 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:158000 MONILETHRIX HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:158000 HPO 17.02.2009
-OMIM:158000 MONILETHRIX HP:0001006 Hypotrichosis IEA IEA OMIM:158000 HPO:skoehler 18.06.2010
-OMIM:158000 MONILETHRIX HP:0001425 Heterogeneous IEA IEA OMIM:158000 HPO:skoehler 19.06.2010
-OMIM:158000 MONILETHRIX HP:0001596 Alopecia IEA IEA OMIM:158000 HPO 17.02.2009
-OMIM:158000 MONILETHRIX HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:158000 HPO 17.02.2009
-OMIM:158000 MONILETHRIX HP:0002164 Nail dysplasia IEA IEA OMIM:158000 HPO:skoehler 18.06.2010
-OMIM:158000 MONILETHRIX HP:0003593 Infantile onset IEA IEA OMIM:158000 HPO:skoehler 19.06.2010
-OMIM:158000 MONILETHRIX HP:0003828 Variable expressivity IEA IEA OMIM:158000 HPO:skoehler 19.06.2010
-OMIM:158000 MONILETHRIX HP:0007468 Perifollicular hyperkeratosis IEA IEA OMIM:158000 HPO 17.02.2009
-OMIM:158000 MONILETHRIX HP:0010719 Abnormality of hair texture IEA IEA OMIM:158000 HPO:skoehler 18.06.2010
-OMIM:158000 #158000 MONILETHRIX HP:0002299 Brittle hair IEA IEA OMIM-CS:SKIN, NAILS, HAIR_HAIR > BRITTLE HAIR OMIM:158000 HPO:skoehler 17.10.2012
-OMIM:158000 #158000 MONILETHRIX HP:0008404 Nail dystrophy IEA IEA OMIM-CS:SKIN, NAILS, HAIR_NAILS > ONYCHODYSTROPHY OMIM:158000 HPO:skoehler 03.05.2013
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:158000 MONILETHRIX HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:158000 HPO Feb 17, 2009
+OMIM:158000 MONILETHRIX HP:0001006 Hypotrichosis TAS TAS OMIM:158000 HPO:skoehler Jun 18, 2010
+OMIM:158000 MONILETHRIX HP:0001596 Alopecia IEA IEA OMIM:158000 HPO Feb 17, 2009
+OMIM:158000 MONILETHRIX HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:158000 HPO Feb 17, 2009
+OMIM:158000 MONILETHRIX HP:0002164 Nail dysplasia IEA IEA OMIM:158000 HPO:skoehler Jun 18, 2010
+OMIM:158000 MONILETHRIX HP:0003593 Infantile onset IEA IEA OMIM:158000 HPO:skoehler Jun 19, 2010
+OMIM:158000 MONILETHRIX HP:0003828 Variable expressivity IEA IEA OMIM:158000 HPO:skoehler Jun 19, 2010
+OMIM:158000 MONILETHRIX HP:0007468 Perifollicular hyperkeratosis IEA IEA OMIM:158000 HPO Feb 17, 2009
+OMIM:158000 MONILETHRIX HP:0010719 Abnormality of hair texture TAS TAS OMIM:158000 HPO:skoehler Jun 18, 2010
+OMIM:158000 #158000 MONILETHRIX HP:0002299 Brittle hair TAS TAS OMIM-CS:SKIN, NAILS, HAIR_HAIR > BRITTLE HAIR OMIM:158000 HPO:skoehler Oct 17, 2012
+OMIM:158000 #158000 MONILETHRIX HP:0008404 Nail dystrophy TAS TAS OMIM-CS:SKIN, NAILS, HAIR_NAILS > ONYCHODYSTROPHY OMIM:158000 HPO:skoehler May 3, 2013
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-158170.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-158170.tab 2015-03-02 07:01:31 UTC (rev 5318)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-158170.tab 2015-03-07 08:17:40 UTC (rev 5319)
@@ -1,47 +1,46 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:158170 HPO 17.02.2009
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0000023 Inguinal hernia IEA IEA OMIM:158170 HPO 17.02.2009
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0000047 Hypospadias IEA IEA OMIM:158170 HPO 17.02.2009
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0000054 Micropenis IEA IEA OMIM:158170 HPO 17.02.2009
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0000156 High-arched palate IEA IEA OMIM:158170 HPO 17.02.2009
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0000160 Narrow mouth IEA IEA OMIM:158170 HPO 17.02.2009
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0000219 Thin upper lip vermilion IEA IEA OMIM:158170 HPO 17.02.2009
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0000243 Trigonocephaly IEA IEA OMIM:158170 HPO 17.02.2009
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0000272 Malar hypoplasia IEA IEA OMIM:158170 HPO 17.02.2009
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0000286 Epicanthus IEA IEA OMIM:158170 HPO 17.02.2009
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0000316 Hypertelorism IEA IEA OMIM:158170 HPO 17.02.2009
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0000343 Long philtrum IEA IEA OMIM:158170 HPO 17.02.2009
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0000347 Micrognathia IEA IEA OMIM:158170 HPO 17.02.2009
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0000358 Posteriorly rotated ears IEA IEA OMIM:158170 HPO 17.02.2009
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0000369 Low-set ears IEA IEA OMIM:158170 HPO 17.02.2009
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0000377 Abnormality of the pinna IEA IEA OMIM:158170 HPO 17.02.2009
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0000425 Flattened nasal bridge IEA IEA OMIM:158170 HPO 17.02.2009
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0000431 Broad nasal bridge IEA IEA OMIM:158170 HPO 17.02.2009
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0000453 Choanal atresia IEA IEA OMIM:158170 HPO 17.02.2009
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0000463 Nares, anteverted IEA IEA OMIM:158170 HPO 17.02.2009
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0000470 Short neck IEA IEA OMIM:158170 HPO 17.02.2009
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0000545 Myopia IEA IEA OMIM:158170 HPO 17.02.2009
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0000582 Upslanted palpebral fissure IEA IEA OMIM:158170 HPO 17.02.2009
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0000750 Delayed speech and language development IEA IEA OMIM:158170 HPO 17.02.2009
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0001182 Tapered finger IEA IEA OMIM:158170 HPO 17.02.2009
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0001252 Muscular hypotonia IEA IEA OMIM:158170 HPO 17.02.2009
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0001420 Isolated cases IEA IEA OMIM:158170 HPO 17.02.2009
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0001539 Omphalocele IEA IEA OMIM:158170 HPO 17.02.2009
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0001629 Ventricular septal defect IEA IEA OMIM:158170 HPO 17.02.2009
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0001631 Defect in the atrial septum IEA IEA OMIM:158170 HPO 17.02.2009
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0001643 Patent ductus arteriosus IEA IEA OMIM:158170 HPO 17.02.2009
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0001763 Pes planus IEA IEA OMIM:158170 HPO 17.02.2009
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0001795 Hyperconvex nail IEA IEA OMIM:158170 HPO 17.02.2009
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:158170 HPO 17.02.2009
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0002286 Fair hair IEA IEA OMIM:158170 HPO:skoehler 20.06.2010
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0002553 Highly arched eyebrow IEA IEA OMIM:158170 HPO 17.02.2009
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0002650 Scoliosis IEA IEA OMIM:158170 HPO 17.02.2009
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0002705 High, narrow palate IEA IEA OMIM:158170 HPO 17.02.2009
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0005882 Dermatoglyphic variants IEA IEA OMIM:158170 HPO 17.02.2009
-OMIM:158170 MONOSOMY 9P SYNDROME HP:0006610 Wide intermamillary distance IEA IEA OMIM:158170 HPO 17.02.2009
-OMIM:158170 #158170 CHROMOSOME 9p DELETION SYNDROME;;MONOSOMY 9p SYNDROME HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT OMIM:158170 HPO:skoehler 17.10.2012
-OMIM:158170 #158170 CHROMOSOME 9p DELETION SYNDROME;;MONOSOMY 9p SYNDROME HP:0001249 Intellectual disability IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION OMIM:158170 HPO:skoehler 17.10.2012
-OMIM:158170 #158170 CHROMOSOME 9p DELETION SYNDROME;;MONOSOMY 9p SYNDROME HP:0200086 Thin upper lip IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > THIN UPPER LIP OMIM:158170 HPO:skoehler 04.06.2013
-OMIM:158170 #158170 CHROMOSOME 9p DELETION SYNDROME;;MONOSOMY 9p SYNDROME HP:0011800 Midface retrusion IEA IEA OMIM-CS:HEAD AND NECK_FACE > MIDFACE HYPOPLASIA OMIM:158170 HPO:skoehler 28.11.2013
-OMIM:158170 #158170 CHROMOSOME 9p DELETION SYNDROME;;MONOSOMY 9p SYNDROME HP:0030148 Heart murmur IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > HEART MURMURS OMIM:158170 HPO:skoehler 26.11.2014
-OMIM:158170 #158170 CHROMOSOME 9p DELETION SYNDROME;;MONOSOMY 9p SYNDROME HP:0045025 Small palpebral fissure IEA IEA OMIM-CS:HEAD AND NECK_EYES > SMALL PALPEBRAL FISSURES OMIM:158170 HPO:skoehler 27.11.2014
+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:158170 MONOSOMY 9P SYNDROME HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:158170 HPO Feb 17, 2009
+OMIM:158170 MONOSOMY 9P SYNDROME HP:0000023 Inguinal hernia IEA IEA OMIM:158170 HPO Feb 17, 2009
+OMIM:158170 MONOSOMY 9P SYNDROME HP:0000047 Hypospadias IEA IEA OMIM:158170 HPO Feb 17, 2009
+OMIM:158170 MONOSOMY 9P SYNDROME HP:0000054 Micropenis IEA IEA OMIM:158170 HPO Feb 17, 2009
+OMIM:158170 MONOSOMY 9P SYNDROME HP:0000156 High-arched palate IEA IEA OMIM:158170 HPO Feb 17, 2009
+OMIM:158170 MONOSOMY 9P SYNDROME HP:0000160 Narrow mouth IEA IEA OMIM:158170 HPO Feb 17, 2009
+OMIM:158170 MONOSOMY 9P SYNDROME HP:0000219 Thin upper lip vermilion IEA IEA OMIM:158170 HPO Feb 17, 2009
+OMIM:158170 MONOSOMY 9P SYNDROME HP:0000243 Trigonocephaly IEA IEA OMIM:158170 HPO Feb 17, 2009
+OMIM:158170 MONOSOMY 9P SYNDROME HP:0000272 Malar flattening IEA IEA OMIM:158170 HPO Feb 17, 2009
+OMIM:158170 MONOSOMY 9P SYNDROME HP:0000286 Epicanthus IEA IEA OMIM:158170 HPO Feb 17, 2009
+OMIM:158170 MONOSOMY 9P SYNDROME HP:0000316 Hypertelorism IEA IEA OMIM:158170 HPO Feb 17, 2009
+OMIM:158170 MONOSOMY 9P SYNDROME HP:0000343 Long philtrum IEA IEA OMIM:158170 HPO Feb 17, 2009
+OMIM:158170 MONOSOMY 9P SYNDROME HP:0000347 Micrognathia IEA IEA OMIM:158170 HPO Feb 17, 2009
+OMIM:158170 MONOSOMY 9P SYNDROME HP:0000358 Posteriorly rotated ears IEA IEA OMIM:158170 HPO Feb 17, 2009
+OMIM:158170 MONOSOMY 9P SYNDROME HP:0000369 Low-set ears IEA IEA OMIM:158170 HPO Feb 17, 2009
+OMIM:158170 MONOSOMY 9P SYNDROME HP:0000377 Abnormality of the pinna IEA IEA OMIM:158170 HPO Feb 17, 2009
+OMIM:158170 MONOSOMY 9P SYNDROME HP:0000425 Flattened nasal bridge IEA IEA OMIM:158170 HPO Feb 17, 2009
+OMIM:158170 MONOSOMY 9P SYNDROME HP:0000431 Wide nasal bridge IEA IEA OMIM:158170 HPO Feb 17, 2009
+OMIM:158170 MONOSOMY 9P SYNDROME HP:0000453 Choanal atresia IEA IEA OMIM:158170 HPO Feb 17, 2009
+OMIM:158170 MONOSOMY 9P SYNDROME HP:0000463 Anteverted nares IEA IEA OMIM:158170 HPO Feb 17, 2009
+OMIM:158170 MONOSOMY 9P SYNDROME HP:0000470 Short neck IEA IEA OMIM:158170 HPO Feb 17, 2009
+OMIM:158170 MONOSOMY 9P SYNDROME HP:0000545 Myopia IEA IEA OMIM:158170 HPO Feb 17, 2009
+OMIM:158170 MONOSOMY 9P SYNDROME HP:0000582 Upslanted palpebral fissure IEA IEA OMIM:158170 HPO Feb 17, 2009
+OMIM:158170 MONOSOMY 9P SYNDROME HP:0000750 Delayed speech and language development IEA IEA OMIM:158170 HPO Feb 17, 2009
+OMIM:158170 MONOSOMY 9P SYNDROME HP:0001182 Tapered finger IEA IEA OMIM:158170 HPO Feb 17, 2009
+OMIM:158170 MONOSOMY 9P SYNDROME HP:0001252 Muscular hypotonia IEA IEA OMIM:158170 HPO Feb 17, 2009
+OMIM:158170 MONOSOMY 9P SYNDROME HP:0001420 Isolated cases IEA IEA OMIM:158170 HPO Feb 17, 2009
+OMIM:158170 MONOSOMY 9P SYNDROME HP:0001539 Omphalocele IEA IEA OMIM:158170 HPO Feb 17, 2009
+OMIM:158170 MONOSOMY 9P SYNDROME HP:0001629 Ventricular septal defect IEA IEA OMIM:158170 HPO Feb 17, 2009
+OMIM:158170 MONOSOMY 9P SYNDROME HP:0001631 Defect in the atrial septum IEA IEA OMIM:158170 HPO Feb 17, 2009
+OMIM:158170 MONOSOMY 9P SYNDROME HP:0001643 Patent ductus arteriosus IEA IEA OMIM:158170 HPO Feb 17, 2009
+OMIM:158170 MONOSOMY 9P SYNDROME HP:0001763 Pes planus IEA IEA OMIM:158170 HPO Feb 17, 2009
+OMIM:158170 MONOSOMY 9P SYNDROME HP:0001795 Hyperconvex nail IEA IEA OMIM:158170 HPO Feb 17, 2009
+OMIM:158170 MONOSOMY 9P SYNDROME HP:0002286 Fair hair IEA IEA OMIM:158170 HPO:skoehler Jun 20, 2010
+OMIM:158170 MONOSOMY 9P SYNDROME HP:0002553 Highly arched eyebrow IEA IEA OMIM:158170 HPO Feb 17, 2009
+OMIM:158170 MONOSOMY 9P SYNDROME HP:0002650 Scoliosis IEA IEA OMIM:158170 HPO Feb 17, 2009
+OMIM:158170 MONOSOMY 9P SYNDROME HP:0002705 High, narrow palate IEA IEA OMIM:158170 HPO Feb 17, 2009
+OMIM:158170 MONOSOMY 9P SYNDROME HP:0005882 Dermatoglyphic variants IEA IEA OMIM:158170 HPO Feb 17, 2009
+OMIM:158170 MONOSOMY 9P SYNDROME HP:0006610 Wide intermamillary distance IEA IEA OMIM:158170 HPO Feb 17, 2009
+OMIM:158170 #158170 CHROMOSOME 9p DELETION SYNDROME;;MONOSOMY 9p SYNDROME HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT OMIM:158170 HPO:skoehler Oct 17, 2012
+OMIM:158170 #158170 CHROMOSOME 9p DELETION SYNDROME;;MONOSOMY 9p SYNDROME HP:0001249 Intellectual disability IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION OMIM:158170 HPO:skoehler Oct 17, 2012
+OMIM:158170 #158170 CHROMOSOME 9p DELETION SYNDROME;;MONOSOMY 9p SYNDROME HP:0200086 Thin upper lip IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > THIN UPPER LIP OMIM:158170 HPO:skoehler Jun 4, 2013
+OMIM:158170 #158170 CHROMOSOME 9p DELETION SYNDROME;;MONOSOMY 9p SYNDROME HP:0011800 Midface retrusion IEA IEA OMIM-CS:HEAD AND NECK_FACE > MIDFACE HYPOPLASIA OMIM:158170 HPO:skoehler Nov 28, 2013
+OMIM:158170 #158170 CHROMOSOME 9p DELETION SYNDROME;;MONOSOMY 9p SYNDROME HP:0030148 Heart murmur IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > HEART MURMURS OMIM:158170 HPO:skoehler Nov 26, 2014
+OMIM:158170 #158170 CHROMOSOME 9p DELETION SYNDROME;;MONOSOMY 9p SYNDROME HP:0045025 Small palpebral fissure IEA IEA OMIM-CS:HEAD AND NECK_EYES > SMALL PALPEBRAL FISSURES OMIM:158170 HPO:skoehler Nov 27, 2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-158250.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-158250.tab 2015-03-02 07:01:31 UTC (rev 5318)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-158250.tab 2015-03-07 08:17:40 UTC (rev 5319)
@@ -1,5 +1,5 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:158250 NONDISJUNCTION HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:158250 HPO 17.02.2009
-OMIM:158250 NONDISJUNCTION HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:158250 HPO 17.02.2009
-OMIM:158250 NONDISJUNCTION HP:0000144 Decreased fertility IEA IEA OMIM:158250 HPO 17.02.2009
-OMIM:158250 NONDISJUNCTION HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:158250 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:158250 NONDISJUNCTION HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:158250 HPO Feb 17, 2009
+OMIM:158250 NONDISJUNCTION HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:158250 HPO Feb 17, 2009
+OMIM:158250 NONDISJUNCTION HP:0000144 Decreased fertility IEA IEA OMIM:158250 HPO Feb 17, 2009
+OMIM:158250 NONDISJUNCTION HP:0002916 Abnormality of chromosome segregation IEA IEA OMIM:158250 HPO Feb 17, 2009
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <pr...@us...> - 2015-03-02 07:01:34
|
Revision: 5318
http://sourceforge.net/p/obo/svn/5318
Author: probins
Date: 2015-03-02 07:01:31 +0000 (Mon, 02 Mar 2015)
Log Message:
-----------
revision of of annotation file
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-166210.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-166210.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-166210.tab 2015-03-01 19:24:17 UTC (rev 5317)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-166210.tab 2015-03-02 07:01:31 UTC (rev 5318)
@@ -1,23 +1,23 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:166210 HPO 17.02.2009
-OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0000239 Large fontanelles IEA IEA OMIM:166210 HPO 17.02.2009
-OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0000444 Convex nasal ridge IEA IEA OMIM:166210 HPO 17.02.2009
-OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0000592 Blue sclerae IEA IEA OMIM:166210 HPO 17.02.2009
-OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0000923 Beaded ribs IEA IEA OMIM:166210 HPO 17.02.2009
-OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0000926 Platyspondyly IEA IEA OMIM:166210 HPO 17.02.2009
-OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0000963 Thin skin IEA IEA OMIM:166210 HPO 17.02.2009
-OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0001518 Small for gestational age IEA IEA OMIM:166210 HPO 17.02.2009
-OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0001622 Premature birth IEA IEA OMIM:166210 HPO 17.02.2009
-OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0001635 Congestive heart failure IEA IEA OMIM:166210 HPO 17.02.2009
-OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0001790 Nonimmune hydrops fetalis IEA IEA OMIM:166210 HPO 17.02.2009
-OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0002093 Respiratory insufficiency IEA IEA OMIM:166210 HPO 17.02.2009
-OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0002644 Abnormality of the pelvic girdle IEA IEA OMIM:166210 HPO 17.02.2009
-OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0002645 Wormian bones IEA IEA OMIM:166210 HPO 17.02.2009
-OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0002757 Recurrent fractures TAS TAS OMIM:166210 HPO:probinson 17.02.2009
-OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0002982 Tibial bowing IEA IEA OMIM:166210 HPO 17.02.2009
-OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0005474 Decreased calvarial ossification IEA IEA OMIM:166210 HPO 17.02.2009
-OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0005855 Multiple prenatal fractures IEA IEA OMIM:166210 HPO 17.02.2009
-OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0006367 Broad crumpled long bones IEA IEA OMIM:166210 HPO 17.02.2009
-OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0008873 Disproportionate short-limb short stature IEA IEA OMIM:166210 HPO 17.02.2009
-OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0010444 Pulmonary insufficiency IEA IEA OMIM:166210 HPO:skoehler 18.06.2010
-OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0005622 Widened long bones with translucent metaphyseal flaring IEA IEA OMIM:166210 HPO 07.05.2012
+OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:166210 HPO Feb 17, 2009
+OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0000239 Large fontanelles IEA IEA OMIM:166210 HPO Feb 17, 2009
+OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0000444 Convex nasal ridge IEA IEA OMIM:166210 HPO Feb 17, 2009
+OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0000592 Blue sclerae IEA IEA OMIM:166210 HPO Feb 17, 2009
+OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0000923 Beaded ribs IEA IEA OMIM:166210 HPO Feb 17, 2009
+OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0000926 Platyspondyly IEA IEA OMIM:166210 HPO Feb 17, 2009
+OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0000963 Thin skin IEA IEA OMIM:166210 HPO Feb 17, 2009
+OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0001518 Small for gestational age IEA IEA OMIM:166210 HPO Feb 17, 2009
+OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0001622 Premature birth IEA IEA OMIM:166210 HPO Feb 17, 2009
+OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0001635 Congestive heart failure IEA IEA OMIM:166210 HPO Feb 17, 2009
+OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0001790 Nonimmune hydrops fetalis IEA IEA OMIM:166210 HPO Feb 17, 2009
+OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0002093 Respiratory insufficiency IEA IEA OMIM:166210 HPO Feb 17, 2009
+OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0002644 Abnormality of pelvic girdle bone morphology IEA IEA OMIM:166210 HPO Feb 17, 2009
+OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0002645 Wormian bones IEA IEA OMIM:166210 HPO Feb 17, 2009
+OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0002757 Recurrent fractures TAS TAS OMIM:166210 HPO:probinson Feb 17, 2009
+OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0002982 Tibial bowing IEA IEA OMIM:166210 HPO Feb 17, 2009
+OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0005623 Absent ossification of calvaria TAS TAS OMIM:166210 HPO:probinson Feb 17, 2009
+OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0005855 Multiple prenatal fractures TAS TAS OMIM:166210 HPO:probinson Feb 17, 2009
+OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0006367 Crumpled long bones IEA IEA OMIM:166210 HPO Feb 17, 2009
+OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0008873 Disproportionate short-limb short stature IEA IEA OMIM:166210 HPO Feb 17, 2009
+OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0010444 Pulmonary insufficiency IEA IEA OMIM:166210 HPO:skoehler Jun 18, 2010
+OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE IIA HP:0005622 Broad long bones IEA IEA OMIM:166210 HPO May 7, 2012
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
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From: <pr...@us...> - 2015-03-01 10:03:03
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Revision: 5316
http://sourceforge.net/p/obo/svn/5316
Author: probins
Date: 2015-03-01 10:02:53 +0000 (Sun, 01 Mar 2015)
Log Message:
-----------
Revising annotations of skeletal dysplasias
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-114290.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-127350.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-200600.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-211350.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-250220.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-258480.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-271630.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601559.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-114290.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-114290.tab 2015-02-28 17:02:28 UTC (rev 5315)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-114290.tab 2015-03-01 10:02:53 UTC (rev 5316)
@@ -11,7 +11,7 @@
OMIM:114290 CAMPOMELIC DYSPLASIA HP:0000348 High forehead IEA IEA OMIM:114290 HPO Feb 17, 2009
OMIM:114290 CAMPOMELIC DYSPLASIA HP:0000365 Hearing impairment IEA IEA OMIM:114290 HPO Feb 17, 2009
OMIM:114290 CAMPOMELIC DYSPLASIA HP:0000369 Low-set ears IEA IEA OMIM:114290 HPO Feb 17, 2009
-OMIM:114290 CAMPOMELIC DYSPLASIA HP:0000425 Flattened nasal bridge IEA IEA OMIM:114290 HPO Feb 17, 2009
+OMIM:114290 CAMPOMELIC DYSPLASIA HP:0000457 Depressed nasal ridge TAS TAS OMIM:114290 HPO:probinson Feb 17, 2009
OMIM:114290 CAMPOMELIC DYSPLASIA HP:0000581 Blepharophimosis IEA IEA OMIM:114290 HPO Feb 17, 2009
OMIM:114290 CAMPOMELIC DYSPLASIA HP:0000878 11 pairs of ribs IEA IEA OMIM:114290 HPO Feb 17, 2009
OMIM:114290 CAMPOMELIC DYSPLASIA HP:0000882 Hypoplastic scapulae IEA IEA OMIM:114290 HPO Feb 17, 2009
@@ -27,15 +27,16 @@
OMIM:114290 CAMPOMELIC DYSPLASIA HP:0002751 Kyphoscoliosis IEA IEA OMIM:114290 HPO Feb 17, 2009
OMIM:114290 CAMPOMELIC DYSPLASIA HP:0002786 Tracheobronchomalacia IEA IEA OMIM:114290 HPO Feb 17, 2009
OMIM:114290 CAMPOMELIC DYSPLASIA HP:0002827 Hip dislocation IEA IEA OMIM:114290 HPO Feb 17, 2009
-OMIM:114290 CAMPOMELIC DYSPLASIA HP:0002866 Hypoplastic iliac wings IEA IEA OMIM:114290 HPO Feb 17, 2009
+OMIM:114290 CAMPOMELIC DYSPLASIA HP:0002866 Hypoplastic iliac wing IEA IEA OMIM:114290 HPO Feb 17, 2009
OMIM:114290 CAMPOMELIC DYSPLASIA HP:0003038 Fibular hypoplasia IEA IEA OMIM:114290 HPO Feb 17, 2009
OMIM:114290 CAMPOMELIC DYSPLASIA HP:0005035 Shortening of all phalanges of the toes IEA IEA OMIM:114290 HPO Feb 17, 2009
-OMIM:114290 CAMPOMELIC DYSPLASIA HP:0006390 Anterior tibial bowing IEA IEA OMIM:114290 HPO Feb 17, 2009
-OMIM:114290 CAMPOMELIC DYSPLASIA HP:0006654 Absent sternal mineralization IEA IEA OMIM:114290 HPO Feb 17, 2009
+OMIM:114290 CAMPOMELIC DYSPLASIA HP:0006390 Anterior tibial bowing TAS TAS OMIM:114290 HPO:probinson Feb 17, 2009
+OMIM:114290 CAMPOMELIC DYSPLASIA HP:0006628 Absent sternal ossification TAS TAS OMIM:114290 HPO:probinson Feb 17, 2009
OMIM:114290 CAMPOMELIC DYSPLASIA HP:0008434 Hypoplastic cervical vertebrae TAS TAS OMIM:114290 HPO:probinson Feb 17, 2009
OMIM:114290 CAMPOMELIC DYSPLASIA HP:0008477 Poorly ossified cervical vertebrae TAS TAS OMIM:114290 HPO:probinson Feb 17, 2009
OMIM:114290 CAMPOMELIC DYSPLASIA HP:0008873 Disproportionate short-limb short stature HP:0003577 Congenital onset IEA IEA OMIM:114290 HPO Feb 17, 2009
OMIM:114290 CAMPOMELIC DYSPLASIA HP:0011910 Shortening of all phalanges of fingers IEA IEA OMIM:114290 HPO Jun 9, 2012
-OMIM:114290 #114290 CAMPOMELIC DYSPLASIA;;CMPD;;CMD1; CMPD1;;CMPD1/SRA1CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, INCLUDED;;ACAMPOMELIC CAMPOMELIC DYSPLASIA, INCLUDED;;ACAMPOMELIC CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, INCLUDED;;CAMPTOMELIC DYSPLASIA, INCLUDED HP:0008921 Neonatal short-limb short stature IEA IEA OMIM-CS:GROWTH_HEIGHT > SHORT LIMB DWARFISM, PRENATAL ONSET OMIM:114290 HPO:skoehler Nov 16, 2012
+OMIM:114290 #114290 CAMPOMELIC DYSPLASIA;;CMPD;;CMD1; CMPD1;;CMPD1/SRA1CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, INCLUDED;;ACAMPOMELIC CAMPOMELIC DYSPLASIA, INCLUDED;;ACAMPOMELIC CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, INCLUDED;;CAMPTOMELIC DYSPLASIA, INCLUDED HP:0008921 Neonatal short-limb short stature TAS TAS OMIM-CS:GROWTH_HEIGHT > SHORT LIMB DWARFISM, PRENATAL ONSET OMIM:114290 HPO:skoehler Nov 16, 2012
OMIM:114290 CAMPOMELIC DYSPLASIA HP:0012245 Sex reversal TAS TAS OMIM:114290 HPO:probinson Apr 2, 2013
-OMIM:114290 #114290 CAMPOMELIC DYSPLASIA;;CMPD;;CMD1; CMPD1;;CMPD1/SRA1CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, INCLUDED;;ACAMPOMELIC CAMPOMELIC DYSPLASIA, INCLUDED;;ACAMPOMELIC CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, INCLUDED;;CAMPTOMELIC DYSPLASIA, INCLUDED HP:0012745 Short palpebral fissure IEA IEA OMIM-CS:HEAD AND NECK_EYES > SHORT PALPEBRAL FISSURES OMIM:114290 HPO:skoehler 24.03.2014
+OMIM:114290 #114290 CAMPOMELIC DYSPLASIA;;CMPD;;CMD1; CMPD1;;CMPD1/SRA1CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, INCLUDED;;ACAMPOMELIC CAMPOMELIC DYSPLASIA, INCLUDED;;ACAMPOMELIC CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, INCLUDED;;CAMPTOMELIC DYSPLASIA, INCLUDED HP:0012745 Short palpebral fissure TAS TAS OMIM-CS:HEAD AND NECK_EYES > SHORT PALPEBRAL FISSURES OMIM:114290 HPO:skoehler Mar 24, 2014
+OMIM:114290 CAMPOMELIC DYSPLASIA HP:0002980 Femoral bowing TAS TAS Mild OMIM:114290 HPO:probinson Mar 1, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-127350.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-127350.tab 2015-02-28 17:02:28 UTC (rev 5315)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-127350.tab 2015-03-01 10:02:53 UTC (rev 5316)
@@ -6,4 +6,4 @@
OMIM:127350 DYSCHONDROSTEOSIS AND NEPHRITIS HP:0005736 Short tibia IEA IEA OMIM:127350 HPO Feb 17, 2009
OMIM:127350 DYSCHONDROSTEOSIS AND NEPHRITIS HP:0008845 Mesomelic short stature TAS TAS OMIM:127350 HPO Feb 17, 2009
OMIM:127350 127350 DYSCHONDROSTEOSIS AND NEPHRITIS HP:0005773 Short forearm TAS TAS OMIM:127350 HPO:skoehler Oct 17, 2012
-OMIM:127350 127350 DYSCHONDROSTEOSIS AND NEPHRITIS HP:0001249 Intellectual disability IEA IEA NOT NOT OMIM-CS:NEURO > NORMAL INTELLIGENCE OMIM:127350 HPO:skoehler 26.11.2014
+OMIM:127350 127350 DYSCHONDROSTEOSIS AND NEPHRITIS HP:0001249 Intellectual disability TAS TAS NOT NOT OMIM-CS:NEURO > NORMAL INTELLIGENCE OMIM:127350 HPO:skoehler Nov 26, 2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-200600.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-200600.tab 2015-02-28 17:02:28 UTC (rev 5315)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-200600.tab 2015-03-01 10:02:53 UTC (rev 5316)
@@ -1,25 +1,25 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:200600 HPO:probinson 17.02.2009
-OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0000425 Flattened nasal bridge TAS TAS OMIM:200600 HPO:probinson 17.02.2009
-OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0000463 Anteverted nares TAS TAS OMIM:200600 HPO:probinson 17.02.2009
-OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0000916 Broad clavicles TAS TAS OMIM:200600 HPO:probinson 17.02.2009
-OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0000882 Hypoplastic scapulae TAS TAS OMIM:200600 HPO:probinson 17.02.2009
-OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0000923 Beaded ribs TAS TAS OMIM:200600 HPO:probinson 17.02.2009
-OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0001552 Barrel-shaped chest TAS TAS OMIM:200600 HPO:probinson 17.02.2009
-OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0001561 Polyhydramnios TAS TAS OMIM:200600 HPO:probinson 17.02.2009
-OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0010660 Abnormal hand bone ossification TAS TAS OMIM:200600 HPO 17.02.2009
-OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0001789 Hydrops fetalis TAS TAS OMIM:200600 HPO:probinson 17.02.2009
-OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0002983 Micromelia TAS TAS OMIM:200600 HPO:probinson 17.02.2009
-OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0002984 Hypoplasia of the radius TAS TAS OMIM:200600 HPO:probinson 17.02.2009
-OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0003175 Hypoplastic ischia TAS TAS OMIM:200600 HPO:probinson 17.02.2009
-OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0003196 Short nose TAS TAS OMIM:200600 HPO:probinson 17.02.2009
-OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0003826 Stillbirth TAS TAS OMIM:200600 HPO:probinson 17.02.2009
-OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0004331 Decreased skull ossification TAS TAS OMIM:200600 HPO:probinson 17.02.2009
-OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0004606 Unossified vertebral bodies TAS TAS OMIM:200600 HPO:probinson 17.02.2009
-OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0003521 Disproportionate short-trunk short stature TAS TAS OMIM:200600 HPO:probinson 29.07.2012
-OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0000773 Short ribs TAS TAS OMIM:200600 HPO:probinson 29.07.2012
-OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0000894 Short clavicles TAS TAS OMIM:200600 HPO:probinson 29.07.2012
-OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0001538 Protuberant abdomen TAS TAS OMIM:200600 HPO:probinson 29.07.2012
-OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0006489 Abnormality of the femoral metaphysis TAS TAS OMIM:200600 HPO:probinson 29.07.2012
-OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0010675 Abnormal foot bone ossification TAS TAS OMIM:200600 HPO:probinson 29.07.2012
-OMIM:200600 #200600 ACHONDROGENESIS, TYPE IA; ACG1A;;ACHONDROGENESIS, HOUSTON-HARRIS TYPE HP:0000470 Short neck IEA IEA OMIM-CS:HEAD AND NECK_NECK > SHORT NECK OMIM:200600 HPO:skoehler 17.10.2012
+OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:200600 HPO:probinson Feb 17, 2009
+OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0005280 Depressed nasal bridge TAS TAS OMIM:200600 HPO:probinson Feb 17, 2009
+OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0000463 Anteverted nares TAS TAS OMIM:200600 HPO:probinson Feb 17, 2009
+OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0000916 Broad clavicles TAS TAS OMIM:200600 HPO:probinson Feb 17, 2009
+OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0000882 Hypoplastic scapulae TAS TAS OMIM:200600 HPO:probinson Feb 17, 2009
+OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0000923 Beaded ribs TAS TAS OMIM:200600 HPO:probinson Feb 17, 2009
+OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0001552 Barrel-shaped chest TAS TAS OMIM:200600 HPO:probinson Feb 17, 2009
+OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0001561 Polyhydramnios TAS TAS OMIM:200600 HPO:probinson Feb 17, 2009
+OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0010660 Abnormal hand bone ossification TAS TAS OMIM:200600 HPO Feb 17, 2009
+OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0001789 Hydrops fetalis TAS TAS OMIM:200600 HPO:probinson Feb 17, 2009
+OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0002983 Micromelia TAS TAS OMIM:200600 HPO:probinson Feb 17, 2009
+OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0002984 Hypoplasia of the radius TAS TAS OMIM:200600 HPO:probinson Feb 17, 2009
+OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0003175 Hypoplastic ischia TAS TAS OMIM:200600 HPO:probinson Feb 17, 2009
+OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0003196 Short nose TAS TAS OMIM:200600 HPO:probinson Feb 17, 2009
+OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0003826 Stillbirth TAS TAS OMIM:200600 HPO:probinson Feb 17, 2009
+OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0004331 Decreased skull ossification TAS TAS OMIM:200600 HPO:probinson Feb 17, 2009
+OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0004606 Unossified vertebral bodies TAS TAS OMIM:200600 HPO:probinson Feb 17, 2009
+OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0003521 Disproportionate short-trunk short stature TAS TAS OMIM:200600 HPO:probinson Jul 29, 2012
+OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0000773 Short ribs TAS TAS OMIM:200600 HPO:probinson Jul 29, 2012
+OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0000894 Short clavicles TAS TAS OMIM:200600 HPO:probinson Jul 29, 2012
+OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0001538 Protuberant abdomen TAS TAS OMIM:200600 HPO:probinson Jul 29, 2012
+OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0006489 Abnormality of the femoral metaphysis TAS TAS OMIM:200600 HPO:probinson Jul 29, 2012
+OMIM:200600 ACHONDROGENESIS, TYPE IA HP:0010675 Abnormal foot bone ossification TAS TAS OMIM:200600 HPO:probinson Jul 29, 2012
+OMIM:200600 #200600 ACHONDROGENESIS, TYPE IA; ACG1A;;ACHONDROGENESIS, HOUSTON-HARRIS TYPE HP:0000470 Short neck IEA IEA OMIM-CS:HEAD AND NECK_NECK > SHORT NECK OMIM:200600 HPO:skoehler Oct 17, 2012
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-211350.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-211350.tab 2015-02-28 17:02:28 UTC (rev 5315)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-211350.tab 2015-03-01 10:02:53 UTC (rev 5316)
@@ -1,31 +1,30 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:211350 KYPHOMELIC DYSPLASIA HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:211350 HPO 17.02.2009
-OMIM:211350 KYPHOMELIC DYSPLASIA HP:0000175 Cleft palate IEA IEA OMIM:211350 HPO 17.02.2009
-OMIM:211350 KYPHOMELIC DYSPLASIA HP:0000204 Cleft upper lip IEA IEA OMIM:211350 HPO 17.02.2009
-OMIM:211350 KYPHOMELIC DYSPLASIA HP:0000272 Malar flattening IEA IEA OMIM:211350 HPO 17.02.2009
-OMIM:211350 KYPHOMELIC DYSPLASIA HP:0000347 Micrognathia IEA IEA OMIM:211350 HPO 17.02.2009
-OMIM:211350 KYPHOMELIC DYSPLASIA HP:0000348 High forehead IEA IEA OMIM:211350 HPO 17.02.2009
-OMIM:211350 KYPHOMELIC DYSPLASIA HP:0000369 Low-set ears IEA IEA OMIM:211350 HPO 17.02.2009
-OMIM:211350 KYPHOMELIC DYSPLASIA HP:0000425 Flattened nasal bridge IEA IEA OMIM:211350 HPO 17.02.2009
-OMIM:211350 KYPHOMELIC DYSPLASIA HP:0000895 Hooked clavicles IEA IEA OMIM:211350 HPO 17.02.2009
-OMIM:211350 KYPHOMELIC DYSPLASIA HP:0000926 Platyspondyly IEA IEA OMIM:211350 HPO 17.02.2009
-OMIM:211350 KYPHOMELIC DYSPLASIA HP:0001059 Pterygia IEA IEA OMIM:211350 HPO 17.02.2009
-OMIM:211350 KYPHOMELIC DYSPLASIA HP:0001376 Limitation of joint mobility IEA IEA OMIM:211350 HPO 17.02.2009
-OMIM:211350 KYPHOMELIC DYSPLASIA HP:0001762 Talipes equinovarus IEA IEA OMIM:211350 HPO 17.02.2009
-OMIM:211350 KYPHOMELIC DYSPLASIA HP:0002982 Tibial bowing IEA IEA OMIM:211350 HPO 17.02.2009
-OMIM:211350 KYPHOMELIC DYSPLASIA HP:0002983 Micromelia IEA IEA OMIM:211350 HPO 17.02.2009
-OMIM:211350 KYPHOMELIC DYSPLASIA HP:0002986 Radial bowing IEA IEA OMIM:211350 HPO 17.02.2009
-OMIM:211350 KYPHOMELIC DYSPLASIA HP:0003014 Short humeri TAS TAS OMIM:211350 HPO:probinson 17.02.2009
-OMIM:211350 KYPHOMELIC DYSPLASIA HP:0003015 Flared metaphyses IEA IEA OMIM:211350 HPO 17.02.2009
-OMIM:211350 KYPHOMELIC DYSPLASIA HP:0003022 Hypoplasia of the ulna IEA IEA OMIM:211350 HPO 17.02.2009
-OMIM:211350 KYPHOMELIC DYSPLASIA HP:0003031 Ulnar bowing IEA IEA OMIM:211350 HPO 17.02.2009
-OMIM:211350 KYPHOMELIC DYSPLASIA HP:0003171 Horizontal acetabular roof IEA IEA OMIM:211350 HPO 17.02.2009
-OMIM:211350 KYPHOMELIC DYSPLASIA HP:0003498 Disproportionate short stature IEA IEA OMIM:211350 HPO 17.02.2009
-OMIM:211350 KYPHOMELIC DYSPLASIA HP:0005257 Thoracic hypoplasia IEA IEA OMIM:211350 HPO 17.02.2009
-OMIM:211350 KYPHOMELIC DYSPLASIA HP:0002980 Femoral bowing TAS TAS OMIM:211350 HPO:probinson 17.02.2009
-OMIM:211350 KYPHOMELIC DYSPLASIA HP:0010049 Short metacarpal IEA IEA OMIM:211350 HPO 17.02.2009
-OMIM:211350 KYPHOMELIC DYSPLASIA HP:0000907 Anterior rib cupping TAS TAS OMIM:211350 HPO:probinson 10.06.2012
-OMIM:211350 KYPHOMELIC DYSPLASIA HP:0005009 Dumbbell-shaped humerus TAS TAS OMIM:211350 HPO:probinson 10.06.2012
-OMIM:211350 KYPHOMELIC DYSPLASIA HP:0010561 Undulate ribs TAS TAS OMIM:211350 HPO:probinson 10.06.2012
-OMIM:211350 KYPHOMELIC DYSPLASIA HP:0003097 Short femur TAS TAS OMIM:211350 HPO:probinson 10.06.2012
-OMIM:211350 %211350 KYPHOMELIC DYSPLASIA;;BOWING, CONGENITAL, WITH SHORT BONES HP:0012368 Flat face IEA IEA OMIM-CS:HEAD AND NECK_FACE > FLAT FACE OMIM:211350 HPO:skoehler 22.10.2013
+OMIM:211350 KYPHOMELIC DYSPLASIA HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:211350 HPO:probinson Feb 17, 2009
+OMIM:211350 KYPHOMELIC DYSPLASIA HP:0000175 Cleft palate TAS TAS OMIM:211350 HPO:probinson Feb 17, 2009
+OMIM:211350 KYPHOMELIC DYSPLASIA HP:0000204 Cleft upper lip TAS TAS OMIM:211350 HPO:probinson Feb 17, 2009
+OMIM:211350 KYPHOMELIC DYSPLASIA HP:0000347 Micrognathia TAS TAS OMIM:211350 HPO:probinson Feb 17, 2009
+OMIM:211350 KYPHOMELIC DYSPLASIA HP:0000348 High forehead TAS TAS OMIM:211350 HPO:probinson Feb 17, 2009
+OMIM:211350 KYPHOMELIC DYSPLASIA HP:0000369 Low-set ears TAS TAS OMIM:211350 HPO:probinson Feb 17, 2009
+OMIM:211350 KYPHOMELIC DYSPLASIA HP:0005280 Depressed nasal bridge TAS TAS OMIM:211350 HPO:probinson Feb 17, 2009
+OMIM:211350 KYPHOMELIC DYSPLASIA HP:0000895 Hooked clavicles TAS TAS OMIM:211350 HPO:probinson Feb 17, 2009
+OMIM:211350 KYPHOMELIC DYSPLASIA HP:0000926 Platyspondyly TAS TAS OMIM:211350 HPO:probinson Feb 17, 2009
+OMIM:211350 KYPHOMELIC DYSPLASIA HP:0001059 Pterygium TAS TAS OMIM:211350 HPO:probinson Feb 17, 2009
+OMIM:211350 KYPHOMELIC DYSPLASIA HP:0001376 Limitation of joint mobility TAS TAS OMIM:211350 HPO:probinson Feb 17, 2009
+OMIM:211350 KYPHOMELIC DYSPLASIA HP:0001762 Talipes equinovarus TAS TAS OMIM:211350 HPO:probinson Feb 17, 2009
+OMIM:211350 KYPHOMELIC DYSPLASIA HP:0002982 Tibial bowing TAS TAS OMIM:211350 HPO:probinson Feb 17, 2009
+OMIM:211350 KYPHOMELIC DYSPLASIA HP:0002983 Micromelia TAS TAS Severe OMIM:211350 HPO:probinson Feb 17, 2009
+OMIM:211350 KYPHOMELIC DYSPLASIA HP:0002986 Radial bowing TAS TAS OMIM:211350 HPO:probinson Feb 17, 2009
+OMIM:211350 KYPHOMELIC DYSPLASIA HP:0003014 Short humeri TAS TAS OMIM:211350 HPO:probinson Feb 17, 2009
+OMIM:211350 KYPHOMELIC DYSPLASIA HP:0003015 Flared metaphyses TAS TAS OMIM:211350 HPO:probinson Feb 17, 2009
+OMIM:211350 KYPHOMELIC DYSPLASIA HP:0003031 Ulnar bowing PCS PCS PMID:11140840 HPO:probinson Feb 17, 2009
+OMIM:211350 KYPHOMELIC DYSPLASIA HP:0003171 Horizontal acetabular roof TAS TAS OMIM:211350 HPO:probinson Feb 17, 2009
+OMIM:211350 KYPHOMELIC DYSPLASIA HP:0003498 Disproportionate short stature TAS TAS OMIM:211350 HPO:probinson Feb 17, 2009
+OMIM:211350 KYPHOMELIC DYSPLASIA HP:0005257 Thoracic hypoplasia TAS TAS OMIM:211350 HPO:probinson Feb 17, 2009
+OMIM:211350 KYPHOMELIC DYSPLASIA HP:0002980 Femoral bowing TAS TAS OMIM:211350 HPO:probinson Feb 17, 2009
+OMIM:211350 KYPHOMELIC DYSPLASIA HP:0010049 Short metacarpal TAS TAS OMIM:211350 HPO:probinson Feb 17, 2009
+OMIM:211350 KYPHOMELIC DYSPLASIA HP:0000907 Anterior rib cupping TAS TAS OMIM:211350 HPO:probinson Jun 10, 2012
+OMIM:211350 KYPHOMELIC DYSPLASIA HP:0005009 Dumbbell-shaped humerus TAS TAS OMIM:211350 HPO:probinson Jun 10, 2012
+OMIM:211350 KYPHOMELIC DYSPLASIA HP:0010561 Undulate ribs TAS TAS OMIM:211350 HPO:probinson Jun 10, 2012
+OMIM:211350 KYPHOMELIC DYSPLASIA HP:0003097 Short femur TAS TAS OMIM:211350 HPO:probinson Jun 10, 2012
+OMIM:211350 %211350 KYPHOMELIC DYSPLASIA;;BOWING, CONGENITAL, WITH SHORT BONES HP:0012368 Flat face TAS TAS OMIM-CS:HEAD AND NECK_FACE > FLAT FACE OMIM:211350 HPO:skoehler Oct 22, 2013
+OMIM:211350 KYPHOMELIC DYSPLASIA HP:0003865 Bowed humerus PCS PCS PMID:11140840 HPO:probinson Mar 1, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-250220.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-250220.tab 2015-02-28 17:02:28 UTC (rev 5315)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-250220.tab 2015-03-01 10:02:53 UTC (rev 5316)
@@ -36,7 +36,6 @@
OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0011675 Arrhythmia TAS TAS OMIM:250220 HPO:probinson Feb 17, 2009
OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0001831 Short toe TAS TAS OMIM:250220 HPO:probinson Jun 10, 2012
OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0009381 Short finger TAS TAS OMIM:250220 HPO:probinson Jun 10, 2012
-OMIM:250220 %250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE;;SEDAGHATIAN CHONDRODYSPLASIA;;METAPHYSEAL CHONDRODYSPLASIA, CONGENITAL LETHAL HP:0003375 Narrow greater sacrosciatic notches IEA IEA OMIM-CS:SKELETAL_PELVIS > SMALL SACROSCIATIC NOTCHES OMIM:250220 HPO:skoehler Aug 18, 2013
-OMIM:250220 #250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE; SMDS;;SEDAGHATIAN CHONDRODYSPLASIA;;METAPHYSEAL CHONDRODYSPLASIA, CONGENITAL LETHAL HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_FEET > BRACHYDACTYLY OMIM:250220 HPO:skoehler Nov 26, 2014
-OMIM:250220 #250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE; SMDS;;SEDAGHATIAN CHONDRODYSPLASIA;;METAPHYSEAL CHONDRODYSPLASIA, CONGENITAL LETHAL HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY OMIM:250220 HPO:skoehler Nov 26, 2014
-OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0003375 Narrow greater sacrosciatic notches TAS TAS OMIM:250220 HPO:probinson Feb 1, 2015
+OMIM:250220 %250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE;;SEDAGHATIAN CHONDRODYSPLASIA;;METAPHYSEAL CHONDRODYSPLASIA, CONGENITAL LETHAL HP:0003375 Narrow greater sacrosciatic notches TAS TAS OMIM-CS:SKELETAL_PELVIS > SMALL SACROSCIATIC NOTCHES OMIM:250220 HPO:skoehler Aug 18, 2013
+OMIM:250220 #250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE; SMDS;;SEDAGHATIAN CHONDRODYSPLASIA;;METAPHYSEAL CHONDRODYSPLASIA, CONGENITAL LETHAL HP:0009381 Short finger TAS TAS OMIM-CS:SKELETAL_FEET > BRACHYDACTYLY OMIM:250220 HPO:skoehler Nov 26, 2014
+OMIM:250220 #250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE; SMDS;;SEDAGHATIAN CHONDRODYSPLASIA;;METAPHYSEAL CHONDRODYSPLASIA, CONGENITAL LETHAL HP:0001831 Short toe TAS TAS OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY OMIM:250220 HPO:skoehler Nov 26, 2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-258480.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-258480.tab 2015-02-28 17:02:28 UTC (rev 5315)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-258480.tab 2015-03-01 10:02:53 UTC (rev 5316)
@@ -19,16 +19,16 @@
OMIM:258480 OPSISMODYSPLASIA HP:0003021 Metaphyseal cupping IEA IEA OMIM:258480 HPO Feb 17, 2009
OMIM:258480 OPSISMODYSPLASIA HP:0003026 Short long bones IEA IEA OMIM:258480 HPO Feb 17, 2009
OMIM:258480 OPSISMODYSPLASIA HP:0003171 Horizontal acetabular roof IEA IEA OMIM:258480 HPO Feb 17, 2009
-OMIM:258480 OPSISMODYSPLASIA HP:0003173 Hypoplastic pubic bones IEA IEA OMIM:258480 HPO Feb 17, 2009
+OMIM:258480 OPSISMODYSPLASIA HP:0003173 Hypoplastic pubic bone IEA IEA OMIM:258480 HPO Feb 17, 2009
OMIM:258480 OPSISMODYSPLASIA HP:0003175 Hypoplastic ischia IEA IEA OMIM:258480 HPO Feb 17, 2009
OMIM:258480 OPSISMODYSPLASIA HP:0003177 Squared iliac bones IEA IEA OMIM:258480 HPO Feb 17, 2009
OMIM:258480 OPSISMODYSPLASIA HP:0003196 Short nose IEA IEA OMIM:258480 HPO Feb 17, 2009
-OMIM:258480 OPSISMODYSPLASIA HP:0003510 Severe short stature TAS TAS OMIM:258480 HPO:skpehler Feb 17, 2009
OMIM:258480 OPSISMODYSPLASIA HP:0004279 Short palm IEA IEA OMIM:258480 HPO Feb 17, 2009
OMIM:258480 OPSISMODYSPLASIA HP:0001538 Protuberant abdomen TAS TAS OMIM:258480 HPO:probinson Feb 17, 2009
OMIM:258480 OPSISMODYSPLASIA HP:0004565 Severe platyspondyly IEA IEA OMIM:258480 HPO Feb 17, 2009
OMIM:258480 OPSISMODYSPLASIA HP:0008479 Hypoplastic vertebral bodies IEA IEA OMIM:258480 HPO Feb 17, 2009
OMIM:258480 OPSISMODYSPLASIA HP:0000907 Anterior rib cupping TAS TAS OMIM:258480 HPO:probinson Jun 10, 2012
OMIM:258480 OPSISMODYSPLASIA HP:0000922 Posterior rib cupping TAS TAS OMIM:258480 HPO:probinson Jun 10, 2012
-OMIM:258480 #258480 OPSISMODYSPLASIA; OPSMD HP:0000117 Decreased renal tubular phosphate reabsorption TAS TAS rare OMIM:258480 HPO:skoehler Jun 5, 2013
+OMIM:258480 #258480 OPSISMODYSPLASIA; OPSMD HP:0000117 Renal phosphate wasting TAS TAS rare OMIM:258480 HPO:skoehler Jun 5, 2013
OMIM:258480 #258480 OPSISMODYSPLASIA; OPSMD HP:0002148 Hypophosphatemia TAS TAS rare OMIM:258480 HPO:skoehler Jun 5, 2013
+OMIM:258480 OPSISMODYSPLASIA HP:0008873 Disproportionate short-limb short stature TAS TAS rhizomelic dwarfism OMIM:258480 HPO:probinson Feb 28, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-271630.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-271630.tab 2015-02-28 17:02:28 UTC (rev 5315)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-271630.tab 2015-03-01 10:02:53 UTC (rev 5316)
@@ -1,17 +1,17 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:271630 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:271630 HPO 17.02.2009
-OMIM:271630 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE HP:0000470 Short neck IEA IEA OMIM:271630 HPO 17.02.2009
-OMIM:271630 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE HP:0001288 Gait disturbance IEA IEA OMIM:271630 HPO 17.02.2009
-OMIM:271630 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE HP:0002751 Kyphoscoliosis IEA IEA OMIM:271630 HPO 17.02.2009
-OMIM:271630 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE HP:0002945 Intervertebral space narrowing IEA IEA OMIM:271630 HPO 17.02.2009
-OMIM:271630 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE HP:0003032 Short femoral neck IEA IEA OMIM:271630 HPO 17.02.2009
-OMIM:271630 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE HP:0003301 Irregular vertebral endplates IEA IEA OMIM:271630 HPO 17.02.2009
-OMIM:271630 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE HP:0003418 Back pain IEA IEA OMIM:271630 HPO 17.02.2009
-OMIM:271630 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE HP:0003521 Disproportionate short-trunk short stature TAS TAS OMIM:271630 HPO:skoehler 17.02.2009
-OMIM:271630 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE HP:0006413 Broad tibial metaphyses IEA IEA OMIM:271630 HPO 17.02.2009
-OMIM:271630 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE HP:0006607 Precocious costochondral ossification IEA IEA OMIM:271630 HPO 17.02.2009
-OMIM:271630 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE HP:0007759 Opacification of the corneal stroma IEA IEA OMIM:271630 HPO 17.02.2009
-OMIM:271630 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE HP:0008418 Squared-off platyspondyly IEA IEA OMIM:271630 HPO 17.02.2009
-OMIM:271630 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE HP:0008922 Childhood-onset short-trunk short stature IEA IEA OMIM:271630 HPO 17.02.2009
-OMIM:271630 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE HP:0012066 Increased urinary disaccharide excretion TAS TAS OMIM:271630 HPO:probinson 04.08.2012
-OMIM:271630 %271630 BRACHYOLMIA TYPE 1, TOLEDO TYPE;;SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE;;SED, CHONDROITIN SULFATE TYPE;;PAPS-CHONDROITIN SULFATE SULFOTRANSFERASE DEFICIENCY HP:0003310 Abnormality of the odontoid process IEA IEA NOT NOT OMIM-CS:SKELETAL_SPINE > NORMAL ODONTOID PROCESS OMIM:271630 HPO:skoehler 27.11.2014
+OMIM:271630 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:271630 HPO Feb 17, 2009
+OMIM:271630 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE HP:0000470 Short neck IEA IEA OMIM:271630 HPO Feb 17, 2009
+OMIM:271630 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE HP:0001288 Gait disturbance IEA IEA OMIM:271630 HPO Feb 17, 2009
+OMIM:271630 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE HP:0002751 Kyphoscoliosis IEA IEA OMIM:271630 HPO Feb 17, 2009
+OMIM:271630 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE HP:0002945 Intervertebral space narrowing IEA IEA OMIM:271630 HPO Feb 17, 2009
+OMIM:271630 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE HP:0003032 Short femoral neck IEA IEA OMIM:271630 HPO Feb 17, 2009
+OMIM:271630 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE HP:0003301 Irregular vertebral endplates IEA IEA OMIM:271630 HPO Feb 17, 2009
+OMIM:271630 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE HP:0003418 Back pain IEA IEA OMIM:271630 HPO Feb 17, 2009
+OMIM:271630 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE HP:0003521 Disproportionate short-trunk short stature TAS TAS OMIM:271630 HPO:skoehler Feb 17, 2009
+OMIM:271630 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE HP:0006413 Broad tibial metaphyses IEA IEA OMIM:271630 HPO Feb 17, 2009
+OMIM:271630 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE HP:0006607 Precocious costochondral ossification IEA IEA OMIM:271630 HPO Feb 17, 2009
+OMIM:271630 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE HP:0007759 Opacification of the corneal stroma IEA IEA OMIM:271630 HPO Feb 17, 2009
+OMIM:271630 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE HP:0008418 Squared-off platyspondyly IEA IEA OMIM:271630 HPO Feb 17, 2009
+OMIM:271630 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE HP:0008922 Childhood-onset short-trunk short stature IEA IEA OMIM:271630 HPO Feb 17, 2009
+OMIM:271630 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE HP:0012066 Increased urinary disaccharide excretion TAS TAS OMIM:271630 HPO:probinson Aug 4, 2012
+OMIM:271630 %271630 BRACHYOLMIA TYPE 1, TOLEDO TYPE;;SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE;;SED, CHONDROITIN SULFATE TYPE;;PAPS-CHONDROITIN SULFATE SULFOTRANSFERASE DEFICIENCY HP:0003310 Abnormality of the odontoid process IEA IEA NOT NOT OMIM-CS:SKELETAL_SPINE > NORMAL ODONTOID PROCESS OMIM:271630 HPO:skoehler Nov 27, 2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601559.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601559.tab 2015-02-28 17:02:28 UTC (rev 5315)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601559.tab 2015-03-01 10:02:53 UTC (rev 5316)
@@ -1,59 +1,60 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:601559 HPO 17.02.2009
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0000205 Pursed lips IEA IEA OMIM:601559 HPO 17.02.2009
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0000272 Malar flattening IEA IEA OMIM:601559 HPO 17.02.2009
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0000321 Square face IEA IEA OMIM:601559 HPO 17.02.2009
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0000347 Micrognathia IEA IEA OMIM:601559 HPO 17.02.2009
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0000369 Low-set ears IEA IEA OMIM:601559 HPO 17.02.2009
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0000470 Short neck IEA IEA OMIM:601559 HPO 17.02.2009
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0000581 Blepharophimosis IEA IEA OMIM:601559 HPO 17.02.2009
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0000883 Thin ribs IEA IEA OMIM:601559 HPO 17.02.2009
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0000935 Thickened cortex of long bones IEA IEA OMIM:601559 HPO 17.02.2009
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0000939 Osteoporosis IEA IEA OMIM:601559 HPO 17.02.2009
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0003015 Flared metaphyses TAS TAS OMIM:601559 HPO:probinson 17.02.2009
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0000954 Single transverse palmar crease IEA IEA OMIM:601559 HPO 17.02.2009
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0000963 Thin skin IEA IEA OMIM:601559 HPO 17.02.2009
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0001181 Adducted thumb IEA IEA OMIM:601559 HPO 17.02.2009
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0001252 Muscular hypotonia IEA IEA OMIM:601559 HPO 17.02.2009
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0001609 Hoarse voice IEA IEA OMIM:601559 HPO 17.02.2009
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0001614 Hypernasal speech IEA IEA OMIM:601559 HPO 17.02.2009
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0001883 Talipes IEA IEA OMIM:601559 HPO:skoehler 20.06.2010
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0001954 Episodic fever IEA IEA OMIM:601559 HPO 17.02.2009
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0002007 Frontal bossing IEA IEA OMIM:601559 HPO 17.02.2009
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0002015 Dysphagia IEA IEA OMIM:601559 HPO 17.02.2009
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0002089 Pulmonary hypoplasia IEA IEA OMIM:601559 HPO 17.02.2009
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0002092 Pulmonary hypertension IEA IEA OMIM:601559 HPO 17.02.2009
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0002093 Respiratory insufficiency IEA IEA OMIM:601559 HPO 17.02.2009
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0002104 Apnea IEA IEA OMIM:601559 HPO 17.02.2009
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0002459 Dysautonomia IEA IEA OMIM:601559 HPO 17.02.2009
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0002486 Myotonia IEA IEA OMIM:601559 HPO:skoehler 20.06.2010
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0002650 Scoliosis TAS TAS Progressive OMIM:601559 HPO:probinson 17.02.2009
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0002756 Pathologic fracture IEA IEA OMIM:601559 HPO 17.02.2009
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0003196 Short nose IEA IEA OMIM:601559 HPO 17.02.2009
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0004322 Short stature HP:0003593 Infantile onset IEA IEA OMIM:601559 HPO 17.02.2009
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0004964 Pulmonary arterial medial hypertrophy IEA IEA OMIM:601559 HPO 17.02.2009
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0004980 Metaphyseal rarefaction TAS TAS OMIM:601559 HPO:probinson 17.02.2009
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0005736 Hypoplastic tibia IEA IEA OMIM:601559 HPO:skoehler 20.06.2010
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0006451 Congenital bowing of the long bones IEA IEA OMIM:601559 HPO 17.02.2009
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0006844 Absent patellar reflexes IEA IEA OMIM:601559 HPO 17.02.2009
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0007328 Impaired pain sensation IEA IEA OMIM:601559 HPO:skoehler 20.06.2010
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0007610 Blotching pigmentation of the skin IEA IEA OMIM:601559 HPO 17.02.2009
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0007759 Opacification of the corneal stroma IEA IEA OMIM:601559 HPO 17.02.2009
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0008128 Flexion contractures of the toes IEA IEA OMIM:601559 HPO 17.02.2009
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0009465 Ulnar deviation of finger IEA IEA OMIM:601559 HPO 17.02.2009
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0009803 Short phalanx of finger IEA IEA OMIM:601559 HPO 17.02.2009
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0010298 Smooth tongue IEA IEA OMIM:601559 HPO:skoehler 20.06.2010
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0002978 Knee contractures TAS TAS OMIM:601559 HPO:probinson 27.05.2012
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0002987 Elbow flexion contracture TAS TAS OMIM:601559 HPO:probinson 27.05.2012
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0003026 Short long bones TAS TAS OMIM:601559 HPO:probinson 27.05.2012
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0006062 5th finger camptodactyly TAS TAS OMIM:601559 HPO:probinson 04.06.2012
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0100865 Broad ischia TAS TAS OMIM:601559 HPO:probinson 04.06.2012
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0005740 Small iliac bodies TAS TAS OMIM:601559 HPO:probinson 04.06.2012
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0000682 Abnormality of dental enamel TAS TAS OMIM:601559 HPO:probinson 04.06.2012
-OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0005089 Abnormal metaphyseal trabeculation TAS TAS OMIM:601559 HPO:probinson 29.07.2012
-OMIM:601559 #601559 STUVE-WIEDEMANN SYNDROME;;STWS; SWS;;SCHWARTZ-JAMPEL SYNDROME, TYPE 2; SJS2;;SCHWARTZ-JAMPEL SYNDROME, NEONATAL;;STUVE-WIEDEMANN/SCHWARTZ-JAMPEL TYPE 2 SYNDROME HP:0011968 Feeding difficulties IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > POOR FEEDING OMIM:601559 HPO:skoehler 17.10.2012
-OMIM:601559 #601559 STUVE-WIEDEMANN SYNDROME;;STWS; SWS;;SCHWARTZ-JAMPEL SYNDROME, TYPE 2; SJS2;;SCHWARTZ-JAMPEL SYNDROME, NEONATAL;;STUVE-WIEDEMANN/SCHWARTZ-JAMPEL TYPE 2 SYNDROME HP:0004684 Talipes valgus IEA IEA OMIM-CS:SKELETAL_FEET > TALIPES VALGUS OMIM:601559 HPO:skoehler 17.10.2012
-OMIM:601559 #601559 STUVE-WIEDEMANN SYNDROME;;STWS; SWS;;SCHWARTZ-JAMPEL SYNDROME, TYPE 2; SJS2;;SCHWARTZ-JAMPEL SYNDROME, NEONATAL;;STUVE-WIEDEMANN/SCHWARTZ-JAMPEL TYPE 2 SYNDROME HP:0011800 Midface retrusion IEA IEA OMIM-CS:HEAD AND NECK_FACE > MIDFACE HYPOPLASIA OMIM:601559 HPO:skoehler 28.11.2013
-OMIM:601559 #601559 STUVE-WIEDEMANN SYNDROME;;STWS; SWS;;SCHWARTZ-JAMPEL SYNDROME, TYPE 2; SJS2;;SCHWARTZ-JAMPEL SYNDROME, NEONATAL;;STUVE-WIEDEMANN/SCHWARTZ-JAMPEL TYPE 2 SYNDROME HP:0012745 Short palpebral fissure IEA IEA OMIM-CS:HEAD AND NECK_EYES > SHORT PALPEBRAL FISSURES OMIM:601559 HPO:skoehler 24.03.2014
-OMIM:601559 #601559 STUVE-WIEDEMANN SYNDROME;;STWS; SWS;;SCHWARTZ-JAMPEL SYNDROME, TYPE 2; SJS2;;SCHWARTZ-JAMPEL SYNDROME, NEONATAL;;STUVE-WIEDEMANN/SCHWARTZ-JAMPEL TYPE 2 SYNDROME HP:0012810 Wide nasal base IEA IEA OMIM-CS:HEAD AND NECK_NOSE > WIDE NASAL BASE OMIM:601559 HPO:skoehler 24.06.2014
-OMIM:601559 #601559 STUVE-WIEDEMANN SYNDROME;;STWS; SWS;;SCHWARTZ-JAMPEL SYNDROME, TYPE 2; SJS2;;SCHWARTZ-JAMPEL SYNDROME, NEONATAL;;STUVE-WIEDEMANN/SCHWARTZ-JAMPEL TYPE 2 SYNDROME HP:0001249 Intellectual disability IEA IEA NOT NOT OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > NORMAL INTELLIGENCE OMIM:601559 HPO:skoehler 26.11.2014
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:601559 HPO Feb 17, 2009
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0000205 Pursed lips TAS TAS OMIM:601559 HPO Feb 17, 2009
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0000272 Malar flattening TAS TAS OMIM:601559 HPO Feb 17, 2009
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0000321 Square face TAS TAS OMIM:601559 HPO Feb 17, 2009
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0000347 Micrognathia TAS TAS OMIM:601559 HPO Feb 17, 2009
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0000369 Low-set ears TAS TAS OMIM:601559 HPO Feb 17, 2009
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0000470 Short neck TAS TAS OMIM:601559 HPO Feb 17, 2009
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0000883 Thin ribs TAS TAS OMIM:601559 HPO Feb 17, 2009
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0000935 Thickened cortex of long bones TAS TAS OMIM:601559 HPO Feb 17, 2009
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0000939 Osteoporosis TAS TAS OMIM:601559 HPO Feb 17, 2009
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0003015 Flared metaphyses TAS TAS OMIM:601559 HPO:probinson Feb 17, 2009
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0000954 Single transverse palmar crease TAS TAS OMIM:601559 HPO:probinson Feb 17, 2009
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0000963 Thin skin TAS TAS OMIM:601559 HPO:probinson Feb 17, 2009
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0001181 Adducted thumb TAS TAS OMIM:601559 HPO:probinson Feb 17, 2009
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0001252 Muscular hypotonia IEA IEA OMIM:601559 HPO Feb 17, 2009
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0001609 Hoarse voice IEA IEA OMIM:601559 HPO Feb 17, 2009
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0001883 Talipes IEA IEA OMIM:601559 HPO:skoehler Jun 20, 2010
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0001954 Episodic fever IEA IEA OMIM:601559 HPO Feb 17, 2009
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0002007 Frontal bossing TAS TAS OMIM:601559 HPO:probinson Feb 17, 2009
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0002015 Dysphagia IEA IEA OMIM:601559 HPO Feb 17, 2009
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0002089 Pulmonary hypoplasia TAS TAS OMIM:601559 HPO:probinson Feb 17, 2009
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0002092 Pulmonary hypertension TAS TAS OMIM:601559 HPO:probinson Feb 17, 2009
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0002093 Respiratory insufficiency TAS TAS OMIM:601559 HPO:probinson Feb 17, 2009
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0002104 Apnea TAS TAS OMIM:601559 HPO:probinson Feb 17, 2009
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0002459 Dysautonomia IEA IEA OMIM:601559 HPO Feb 17, 2009
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0002486 Myotonia IEA IEA OMIM:601559 HPO:skoehler Jun 20, 2010
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0002650 Scoliosis TAS TAS Progressive OMIM:601559 HPO:probinson Feb 17, 2009
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0002756 Pathologic fracture TAS TAS OMIM:601559 HPO:probinson Feb 17, 2009
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0003196 Short nose TAS TAS OMIM:601559 HPO:probinson Feb 17, 2009
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0004322 Short stature HP:0003593 Infantile onset TAS TAS OMIM:601559 HPO:probinson Feb 17, 2009
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0004964 Pulmonary arterial medial hypertrophy TAS TAS OMIM:601559 HPO:probinson Feb 17, 2009
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0004980 Metaphyseal rarefaction TAS TAS OMIM:601559 HPO:probinson Feb 17, 2009
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0005736 Short tibia TAS TAS OMIM:601559 HPO:skoehler Jun 20, 2010
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0006844 Absent patellar reflexes IEA IEA OMIM:601559 HPO Feb 17, 2009
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0007328 Impaired pain sensation IEA IEA OMIM:601559 HPO:skoehler Jun 20, 2010
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0007610 Blotching pigmentation of the skin IEA IEA OMIM:601559 HPO Feb 17, 2009
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0007759 Opacification of the corneal stroma IEA IEA OMIM:601559 HPO Feb 17, 2009
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0009465 Ulnar deviation of finger IEA IEA OMIM:601559 HPO Feb 17, 2009
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0009803 Short phalanx of finger IEA IEA OMIM:601559 HPO Feb 17, 2009
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0010298 Smooth tongue IEA IEA OMIM:601559 HPO:skoehler Jun 20, 2010
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0002978 Knee contractures TAS TAS OMIM:601559 HPO:probinson May 27, 2012
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0002987 Elbow flexion contracture TAS TAS OMIM:601559 HPO:probinson May 27, 2012
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0003026 Short long bones TAS TAS OMIM:601559 HPO:probinson May 27, 2012
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0006062 5th finger camptodactyly TAS TAS OMIM:601559 HPO:probinson Jun 4, 2012
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0100865 Broad ischia TAS TAS OMIM:601559 HPO:probinson Jun 4, 2012
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0005740 Small iliac bodies TAS TAS OMIM:601559 HPO:probinson Jun 4, 2012
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0000682 Abnormality of dental enamel TAS TAS OMIM:601559 HPO:probinson Jun 4, 2012
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0005089 Abnormal metaphyseal trabeculation TAS TAS OMIM:601559 HPO:probinson Jul 29, 2012
+OMIM:601559 #601559 STUVE-WIEDEMANN SYNDROME;;STWS; SWS;;SCHWARTZ-JAMPEL SYNDROME, TYPE 2; SJS2;;SCHWARTZ-JAMPEL SYNDROME, NEONATAL;;STUVE-WIEDEMANN/SCHWARTZ-JAMPEL TYPE 2 SYNDROME HP:0011968 Feeding difficulties IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > POOR FEEDING OMIM:601559 HPO:skoehler Oct 17, 2012
+OMIM:601559 #601559 STUVE-WIEDEMANN SYNDROME;;STWS; SWS;;SCHWARTZ-JAMPEL SYNDROME, TYPE 2; SJS2;;SCHWARTZ-JAMPEL SYNDROME, NEONATAL;;STUVE-WIEDEMANN/SCHWARTZ-JAMPEL TYPE 2 SYNDROME HP:0004684 Talipes valgus IEA IEA OMIM-CS:SKELETAL_FEET > TALIPES VALGUS OMIM:601559 HPO:skoehler Oct 17, 2012
+OMIM:601559 #601559 STUVE-WIEDEMANN SYNDROME;;STWS; SWS;;SCHWARTZ-JAMPEL SYNDROME, TYPE 2; SJS2;;SCHWARTZ-JAMPEL SYNDROME, NEONATAL;;STUVE-WIEDEMANN/SCHWARTZ-JAMPEL TYPE 2 SYNDROME HP:0011800 Midface retrusion IEA IEA OMIM-CS:HEAD AND NECK_FACE > MIDFACE HYPOPLASIA OMIM:601559 HPO:skoehler Nov 28, 2013
+OMIM:601559 #601559 STUVE-WIEDEMANN SYNDROME;;STWS; SWS;;SCHWARTZ-JAMPEL SYNDROME, TYPE 2; SJS2;;SCHWARTZ-JAMPEL SYNDROME, NEONATAL;;STUVE-WIEDEMANN/SCHWARTZ-JAMPEL TYPE 2 SYNDROME HP:0012745 Short palpebral fissure TAS TAS OMIM-CS:HEAD AND NECK_EYES > SHORT PALPEBRAL FISSURES OMIM:601559 HPO:skoehler Mar 24, 2014
+OMIM:601559 #601559 STUVE-WIEDEMANN SYNDROME;;STWS; SWS;;SCHWARTZ-JAMPEL SYNDROME, TYPE 2; SJS2;;SCHWARTZ-JAMPEL SYNDROME, NEONATAL;;STUVE-WIEDEMANN/SCHWARTZ-JAMPEL TYPE 2 SYNDROME HP:0012810 Wide nasal base TAS TAS OMIM-CS:HEAD AND NECK_NOSE > WIDE NASAL BASE OMIM:601559 HPO:skoehler Jun 24, 2014
+OMIM:601559 #601559 STUVE-WIEDEMANN SYNDROME;;STWS; SWS;;SCHWARTZ-JAMPEL SYNDROME, TYPE 2; SJS2;;SCHWARTZ-JAMPEL SYNDROME, NEONATAL;;STUVE-WIEDEMANN/SCHWARTZ-JAMPEL TYPE 2 SYNDROME HP:0001249 Intellectual disability IEA IEA NOT NOT OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > NORMAL INTELLIGENCE OMIM:601559 HPO:skoehler Nov 26, 2014
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0002980 Femoral bowing TAS TAS OMIM:601559 HPO:probinson Mar 1, 2015
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0002982 Tibial bowing TAS TAS OMIM:601559 HPO:probinson Mar 1, 2015
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0001611 Nasal speech TAS TAS OMIM:601559 HPO:probinson Mar 1, 2015
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0006487 Bowing of the long bones HP:0003577 Congenital onset TAS TAS OMIM:601559 HPO:probinson Mar 1, 2015
+OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0005830 Flexion contracture of toe TAS TAS OMIM:601559 HPO:probinson Mar 1, 2015
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
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From: <pr...@us...> - 2015-02-28 17:02:30
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Revision: 5315
http://sourceforge.net/p/obo/svn/5315
Author: probins
Date: 2015-02-28 17:02:28 +0000 (Sat, 28 Feb 2015)
Log Message:
-----------
Revised skeletal dysplasia annotation files
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-142669.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-156530.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-225500.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-226960.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-258860.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-271640.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601495.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613330.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614134.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614135.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-142669.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-142669.tab 2015-02-28 13:48:58 UTC (rev 5314)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-142669.tab 2015-02-28 17:02:28 UTC (rev 5315)
@@ -6,3 +6,5 @@
OMIM:142669 HIP DYSPLASIA, BEUKES TYPE HP:0008790 Widened proximal femoral metaphyses TAS TAS OMIM:142669 HPO:probinson Feb 17, 2009
OMIM:142669 HIP DYSPLASIA, BEUKES TYPE HP:0011463 Childhood onset TAS TAS OMIM:142669 HPO:probinson Jul 28, 2012
OMIM:142669 HIP DYSPLASIA, BEUKES TYPE HP:0005743 Avascular necrosis of the capital femoral epiphysis TAS TAS OMIM:142669 HPO:probinson Apr 7, 2013
+OMIM:142669 HIP DYSPLASIA, BEUKES TYPE HP:0005041 Irregular capital femoral epiphysis TAS TAS OMIM:142669 HPO:probinson Feb 28, 2015
+OMIM:142669 HIP DYSPLASIA, BEUKES TYPE HP:0003370 Flat capital femoral epiphysis TAS TAS OMIM:142669 HPO:probinson Feb 28, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-156530.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-156530.tab 2015-02-28 13:48:58 UTC (rev 5314)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-156530.tab 2015-02-28 17:02:28 UTC (rev 5315)
@@ -1,28 +1,28 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT HP:0002093 Respiratory insufficiency IEA IEA OMIM:156530 HPO 17.02.2009
-OMIM:156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT HP:0002650 Scoliosis IEA IEA OMIM:156530 HPO 17.02.2009
-OMIM:156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT HP:0002766 Relatively short spine IEA IEA OMIM:156530 HPO 17.02.2009
-OMIM:156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT HP:0002808 Kyphosis IEA IEA OMIM:156530 HPO 17.02.2009
-OMIM:156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT HP:0002810 Dumbbell-shaped metaphyses IEA IEA OMIM:156530 HPO 17.02.2009
-OMIM:156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT HP:0002822 Hyperplasia of the femoral trochanters IEA IEA OMIM:156530 HPO 17.02.2009
-OMIM:156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT HP:0002825 Caudal appendage IEA IEA OMIM:156530 HPO 17.02.2009
-OMIM:156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT HP:0002826 Halberd-shaped pelvis IEA IEA OMIM:156530 HPO 17.02.2009
-OMIM:156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT HP:0002831 Long coccyx IEA IEA OMIM:156530 HPO 17.02.2009
-OMIM:156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT HP:0002879 Anisospondyly IEA IEA OMIM:156530 HPO 17.02.2009
-OMIM:156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT HP:0003331 A thin seal of bone at the chondroosseous junction IEA IEA OMIM:156530 HPO 17.02.2009
-OMIM:156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT HP:0003332 Absent primary metaphyseal spongiosa IEA IEA OMIM:156530 HPO 17.02.2009
-OMIM:156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT HP:0003336 Abnormal enchondral ossification IEA IEA OMIM:156530 HPO 17.02.2009
-OMIM:156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT HP:0003510 Severe short stature IEA IEA OMIM:156530 HPO 17.02.2009
-OMIM:156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT HP:0003562 Abnormal metaphyseal vascular invasion IEA IEA OMIM:156530 HPO 17.02.2009
-OMIM:156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT HP:0002834 Flared femurs and humeri TAS TAS OMIM:156530 HPO:probinson 10.06.2012
-OMIM:156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT HP:0003911 Flared humeral metaphyses TAS TAS OMIM:156530 HPO:probinson 10.06.2012
-OMIM:156530 #156530 METATROPIC DYSPLASIA;;METATROPIC DWARFISM HP:0000774 Narrow chest IEA IEA OMIM-CS:CHEST_EXTERNAL FEATURES > NARROW THORAX OMIM:156530 HPO:skoehler 17.10.2012
-OMIM:156530 #156530 METATROPIC DYSPLASIA;;METATROPIC DWARFISM HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT OMIM:156530 HPO:skoehler 17.10.2012
-OMIM:156530 #156530 METATROPIC DYSPLASIA;;METATROPIC DWARFISM HP:0002656 Epiphyseal dysplasia IEA IEA OMIM-CS:SKELETAL_LIMBS > EPIPHYSEAL DYSPLASIA OMIM:156530 HPO:skoehler 17.10.2012
-OMIM:156530 #156530 METATROPIC DYSPLASIA;;METATROPIC DWARFISM HP:0000926 Platyspondyly IEA IEA OMIM-CS:SKELETAL_SPINE > PLATYSPONDYLY OMIM:156530 HPO:skoehler 17.10.2012
-OMIM:156530 #156530 METATROPIC DYSPLASIA;;METATROPIC DWARFISM HP:0003477 Peripheral axonal neuropathy IEA IEA rare OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > PERIPHERAL AXONAL NEUROPATHY (IN SOME PATIENTS) OMIM:156530 HPO:skoehler 18.11.2012
-OMIM:156530 #156530 METATROPIC DYSPLASIA;;METATROPIC DWARFISM HP:0001558 Decreased fetal movement IEA IEA rare OMIM-CS:PRENATAL MANIFESTATIONS_MOVEMENT > DECREASED FETAL MOVEMENTS (IN SOME PATIENTS) OMIM:156530 HPO:skoehler 18.11.2012
-OMIM:156530 #156530 METATROPIC DYSPLASIA;;METATROPIC DWARFISM HP:0001371 Flexion contracture IEA IEA rare OMIM-CS:SKELETAL > JOINT CONTRACTURES (IN SOME PATIENTS) OMIM:156530 HPO:skoehler 18.11.2012
-OMIM:156530 #156530 METATROPIC DYSPLASIA;;METATROPIC DWARFISM HP:0001989 Fetal akinesia sequence IEA IEA rare OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > FETAL AKINESIA (IN SOME PATIENTS) OMIM:156530 HPO:skoehler 05.06.2013
-OMIM:156530 #156530 METATROPIC DYSPLASIA;;METATROPIC DWARFISM HP:0002878 Respiratory failure IEA IEA OMIM-CS:RESPIRATORY > RESPIRATORY FAILURE OMIM:156530 HPO:skoehler 24.06.2014
-OMIM:156530 #156530 METATROPIC DYSPLASIA;;METATROPIC DWARFISM HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY OMIM:156530 HPO:skoehler 26.11.2014
+OMIM:156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT HP:0002093 Respiratory insufficiency TAS TAS OMIM:156530 HPO:probinson Feb 17, 2009
+OMIM:156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT HP:0002650 Scoliosis TAS TAS Severe OMIM:156530 HPO:probinson Feb 17, 2009
+OMIM:156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT HP:0002766 Relatively short spine TAS TAS OMIM:156530 HPO:probinson Feb 17, 2009
+OMIM:156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT HP:0002808 Kyphosis TAS TAS Severe OMIM:156530 HPO:probinson Feb 17, 2009
+OMIM:156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT HP:0002810 Dumbbell-shaped metaphyses TAS TAS OMIM:156530 HPO:probinson Feb 17, 2009
+OMIM:156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT HP:0002822 Hyperplasia of the femoral trochanters IEA IEA OMIM:156530 HPO:probinson Feb 17, 2009
+OMIM:156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT HP:0002825 Caudal appendage TAS TAS OMIM:156530 HPO:probinson Feb 17, 2009
+OMIM:156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT HP:0002826 Halberd-shaped pelvis TAS TAS OMIM:156530 HPO:probinson Feb 17, 2009
+OMIM:156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT HP:0002831 Long coccyx TAS TAS OMIM:156530 HPO:probinson Feb 17, 2009
+OMIM:156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT HP:0002879 Anisospondyly TAS TAS OMIM:156530 HPO:probinson Feb 17, 2009
+OMIM:156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT HP:0003331 A thin seal of bone at the chondroosseous junction IEA IEA OMIM:156530 HPO:probinson Feb 17, 2009
+OMIM:156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT HP:0003332 Absent primary metaphyseal spongiosa IEA IEA OMIM:156530 HPO:probinson Feb 17, 2009
+OMIM:156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT HP:0003336 Abnormal enchondral ossification TAS TAS OMIM:156530 HPO:probinson Feb 17, 2009
+OMIM:156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT HP:0003510 Severe short stature TAS TAS OMIM:156530 HPO:probinson Feb 17, 2009
+OMIM:156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT HP:0003562 Abnormal metaphyseal vascular invasion TAS TAS OMIM:156530 HPO:probinson Feb 17, 2009
+OMIM:156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT HP:0002834 Flared femoral metaphysis TAS TAS OMIM:156530 HPO:probinson Jun 10, 2012
+OMIM:156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT HP:0003911 Flared humeral metaphysis TAS TAS OMIM:156530 HPO:probinson Jun 10, 2012
+OMIM:156530 #156530 METATROPIC DYSPLASIA;;METATROPIC DWARFISM HP:0000774 Narrow chest TAS TAS OMIM-CS:CHEST_EXTERNAL FEATURES > NARROW THORAX OMIM:156530 HPO:skoehler Oct 17, 2012
+OMIM:156530 #156530 METATROPIC DYSPLASIA;;METATROPIC DWARFISM HP:0000006 Autosomal dominant inheritance TAS TAS OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT OMIM:156530 HPO:skoehler Oct 17, 2012
+OMIM:156530 #156530 METATROPIC DYSPLASIA;;METATROPIC DWARFISM HP:0002656 Epiphyseal dysplasia TAS TAS OMIM-CS:SKELETAL_LIMBS > EPIPHYSEAL DYSPLASIA OMIM:156530 HPO:skoehler Oct 17, 2012
+OMIM:156530 #156530 METATROPIC DYSPLASIA;;METATROPIC DWARFISM HP:0000926 Platyspondyly TAS TAS OMIM-CS:SKELETAL_SPINE > PLATYSPONDYLY OMIM:156530 HPO:skoehler Oct 17, 2012
+OMIM:156530 #156530 METATROPIC DYSPLASIA;;METATROPIC DWARFISM HP:0003477 Peripheral axonal neuropathy TAS TAS rare OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > PERIPHERAL AXONAL NEUROPATHY (IN SOME PATIENTS) OMIM:156530 HPO:skoehler Nov 18, 2012
+OMIM:156530 #156530 METATROPIC DYSPLASIA;;METATROPIC DWARFISM HP:0001558 Decreased fetal movement TAS TAS rare OMIM-CS:PRENATAL MANIFESTATIONS_MOVEMENT > DECREASED FETAL MOVEMENTS (IN SOME PATIENTS) OMIM:156530 HPO:skoehler Nov 18, 2012
+OMIM:156530 #156530 METATROPIC DYSPLASIA;;METATROPIC DWARFISM HP:0001371 Flexion contracture TAS TAS rare OMIM-CS:SKELETAL > JOINT CONTRACTURES (IN SOME PATIENTS) OMIM:156530 HPO:skoehler Nov 18, 2012
+OMIM:156530 #156530 METATROPIC DYSPLASIA;;METATROPIC DWARFISM HP:0001989 Fetal akinesia sequence TAS TAS rare OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > FETAL AKINESIA (IN SOME PATIENTS) OMIM:156530 HPO:skoehler Jun 5, 2013
+OMIM:156530 #156530 METATROPIC DYSPLASIA;;METATROPIC DWARFISM HP:0002878 Respiratory failure TAS TAS OMIM-CS:RESPIRATORY > RESPIRATORY FAILURE OMIM:156530 HPO:skoehler Jun 24, 2014
+OMIM:156530 #156530 METATROPIC DYSPLASIA;;METATROPIC DWARFISM HP:0009381 Short finger TAS TAS OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY OMIM:156530 HPO:skoehler Nov 26, 2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-225500.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-225500.tab 2015-02-28 13:48:58 UTC (rev 5314)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-225500.tab 2015-02-28 17:02:28 UTC (rev 5315)
@@ -28,3 +28,4 @@
OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0011565 Common atrium TAS TAS OMIM:225500 HPO:probinson Feb 22, 2015
OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0002866 Hypoplastic iliac wing TAS TAS OMIM:225500 HPO:probinson Feb 22, 2015
OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0010454 Acetabular spurs TAS TAS OMIM:225500 HPO:probinson Feb 22, 2015
+OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0000888 Horizontal ribs TAS TAS ISBN:3642035590 HPO:probinson Feb 28, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-226960.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-226960.tab 2015-02-28 13:48:58 UTC (rev 5314)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-226960.tab 2015-02-28 17:02:28 UTC (rev 5315)
@@ -1,12 +1,12 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:226960 EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:226960 HPO:probinson 17.02.2009
-OMIM:226960 EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS HP:0000252 Microcephaly TAS TAS OMIM:226960 HPO:probinson 17.02.2009
-OMIM:226960 EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS HP:0000639 Nystagmus TAS TAS OMIM:226960 HPO:probinson 17.02.2009
-OMIM:226960 EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS HP:0001256 Intellectual disability, mild TAS TAS OMIM:226960 HPO:probinson 17.02.2009
-OMIM:226960 EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS HP:0001518 Small for gestational age TAS TAS OMIM:226960 HPO:probinson 17.02.2009
-OMIM:226960 EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS HP:0002656 Epiphyseal dysplasia TAS TAS OMIM:226960 HPO:probinson 17.02.2009
-OMIM:226960 EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS HP:0003177 Squared iliac bones TAS TAS OMIM:226960 HPO:probinson 17.02.2009
-OMIM:226960 EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS HP:0004322 Short stature TAS TAS OMIM:226960 HPO:probinson 17.02.2009
-OMIM:226960 EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS HP:0010582 Irregular epiphyses TAS TAS OMIM:226960 HPO:probinson 17.02.2009
-OMIM:226960 EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS HP:0010585 Small epiphyses TAS TAS OMIM:226960 HPO:probinson 17.02.2009
-OMIM:226960 EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS HP:0003182 Shallow acetabular fossae TAS TAS flattened acetabulae OMIM:226960 HPO:probinson 28.07.2012
+OMIM:226960 EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:226960 HPO:probinson Feb 17, 2009
+OMIM:226960 EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS HP:0000252 Microcephaly TAS TAS OMIM:226960 HPO:probinson Feb 17, 2009
+OMIM:226960 EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS HP:0000639 Nystagmus TAS TAS OMIM:226960 HPO:probinson Feb 17, 2009
+OMIM:226960 EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS HP:0001256 Intellectual disability, mild TAS TAS OMIM:226960 HPO:probinson Feb 17, 2009
+OMIM:226960 EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS HP:0001518 Small for gestational age TAS TAS OMIM:226960 HPO:probinson Feb 17, 2009
+OMIM:226960 EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS HP:0002656 Epiphyseal dysplasia TAS TAS OMIM:226960 HPO:probinson Feb 17, 2009
+OMIM:226960 EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS HP:0003177 Squared iliac bones TAS TAS OMIM:226960 HPO:probinson Feb 17, 2009
+OMIM:226960 EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS HP:0004322 Short stature TAS TAS OMIM:226960 HPO:probinson Feb 17, 2009
+OMIM:226960 EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS HP:0010582 Irregular epiphyses TAS TAS OMIM:226960 HPO:probinson Feb 17, 2009
+OMIM:226960 EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS HP:0010585 Small epiphyses TAS TAS OMIM:226960 HPO:probinson Feb 17, 2009
+OMIM:226960 EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS HP:0003182 Shallow acetabular fossae TAS TAS flattened acetabulae OMIM:226960 HPO:probinson Jul 28, 2012
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-258860.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-258860.tab 2015-02-28 13:48:58 UTC (rev 5314)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-258860.tab 2015-02-28 17:02:28 UTC (rev 5315)
@@ -1,24 +1,22 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:258860 HPO Feb 17, 2009
-OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000156 High-arched palate IEA IEA OMIM:258860 HPO Feb 17, 2009
-OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000175 Cleft palate IEA IEA OMIM:258860 HPO Feb 17, 2009
-OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000180 Lobulated tongue IEA IEA OMIM:258860 HPO Feb 17, 2009
+OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:258860 HPO:probinson Feb 17, 2009
+OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000156 High-arched palate TAS TAS OMIM:258860 HPO:probinson Feb 17, 2009
+OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000175 Cleft palate TAS TAS OMIM:258860 HPO:probinson Feb 17, 2009
+OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000180 Lobulated tongue TAS TAS OMIM:258860 HPO:probinson Feb 17, 2009
OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000191 Accessory oral frenulum TAS TAS OMIM:258860 HPO:probinson Feb 17, 2009
-OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000199 Tongue nodules TAS TAS OMIM:258860 HPO Feb 17, 2009
-OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000286 Epicanthus IEA IEA OMIM:258860 HPO Feb 17, 2009
-OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000316 Hypertelorism IEA IEA OMIM:258860 HPO Feb 17, 2009
-OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000347 Micrognathia IEA IEA OMIM:258860 HPO Feb 17, 2009
-OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000369 Low-set ears IEA IEA OMIM:258860 HPO Feb 17, 2009
-OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000767 Pectus excavatum IEA IEA OMIM:258860 HPO Feb 17, 2009
-OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0001156 Brachydactyly syndrome IEA IEA OMIM:258860 HPO Feb 17, 2009
-OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0001547 Abnormality of the rib cage IEA IEA OMIM:258860 HPO Feb 17, 2009
-OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0001770 Toe syndactyly IEA IEA OMIM:258860 HPO Feb 17, 2009
-OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0002059 Cerebral atrophy IEA IEA OMIM:258860 HPO Feb 17, 2009
-OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0002132 Porencephaly IEA IEA OMIM:258860 HPO Feb 17, 2009
-OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0004322 Short stature IEA IEA OMIM:258860 HPO Feb 17, 2009
-OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0005736 Short tibia IEA IEA OMIM:258860 HPO Feb 17, 2009
-OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0009466 Radial deviation of finger IEA IEA OMIM:258860 HPO Feb 17, 2009
-OMIM:258860 #258860 OROFACIODIGITAL SYNDROME IV; OFD4;;OFDS IV;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE IV;;OFD SYNDROME WITH TIBIAL DEFECTS;;MOHR-MAJEWSKI SYNDROME;;OFD SYNDROME, BARAITSER-BURN TYPE;;BARAITSER-BURN SYNDROME HP:0030084 Clinodactyly IEA IEA OMIM-CS:SKELETAL_HANDS > CLINODACTYLY OMIM:258860 HPO:skoehler Sep 21, 2014
+OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000199 Tongue nodules TAS TAS OMIM:258860 HPO:probinson Feb 17, 2009
+OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000286 Epicanthus TAS TAS OMIM:258860 HPO:probinson Feb 17, 2009
+OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000316 Hypertelorism TAS TAS OMIM:258860 HPO:probinson Feb 17, 2009
+OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000347 Micrognathia TAS TAS OMIM:258860 HPO:probinson Feb 17, 2009
+OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000369 Low-set ears TAS TAS OMIM:258860 HPO:probinson Feb 17, 2009
+OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000767 Pectus excavatum TAS TAS OMIM:258860 HPO:probinson Feb 17, 2009
+OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0009381 Short finger TAS TAS OMIM:258860 HPO:probinson Feb 17, 2009
+OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0001770 Toe syndactyly TAS TAS OMIM:258860 HPO:probinson Feb 17, 2009
+OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0002059 Cerebral atrophy TAS TAS OMIM:258860 HPO:probinson Feb 17, 2009
+OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0002132 Porencephaly TAS TAS OMIM:258860 HPO:probinson Feb 17, 2009
+OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0004322 Short stature TAS TAS OMIM:258860 HPO:probinson Feb 17, 2009
+OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0005736 Short tibia TAS TAS OMIM:258860 HPO:probinson Feb 17, 2009
+OMIM:258860 #258860 OROFACIODIGITAL SYNDROME IV; OFD4;;OFDS IV;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE IV;;OFD SYNDROME WITH TIBIAL DEFECTS;;MOHR-MAJEWSKI SYNDROME;;OFD SYNDROME, BARAITSER-BURN TYPE;;BARAITSER-BURN SYNDROME HP:0030084 Clinodactyly TAS TAS OMIM-CS:SKELETAL_HANDS > CLINODACTYLY OMIM:258860 HPO:skoehler Sep 21, 2014
OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0011802 Hamartoma of tongue PCS PCS pmid:22883145 HPO:probinson Feb 22, 2015
OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0001161 Hand polydactyly TAS TAS OMIM:258860 HPO:probinson Feb 22, 2015
OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0001829 Foot polydactyly TAS TAS OMIM:258860 HPO:probinson Feb 22, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-271640.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-271640.tab 2015-02-28 13:48:58 UTC (rev 5314)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-271640.tab 2015-02-28 17:02:28 UTC (rev 5315)
@@ -1,16 +1,15 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:271640 HPO Feb 17, 2009
-OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0000156 High-arched palate IEA IEA OMIM:271640 HPO Feb 17, 2009
-OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0000175 Cleft palate IEA IEA OMIM:271640 HPO Feb 17, 2009
-OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0000272 Malar flattening IEA IEA OMIM:271640 HPO Feb 17, 2009
-OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0000300 Oval face IEA IEA OMIM:271640 HPO Feb 17, 2009
-OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0000343 Long philtrum IEA IEA OMIM:271640 HPO Feb 17, 2009
-OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0000470 Short neck IEA IEA OMIM:271640 HPO Feb 17, 2009
+OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:271640 HPO:probinson Feb 17, 2009
+OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0000156 High-arched palate TAS TAS 12% OMIM:271640 HPO Feb 17, 2009
+OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0000175 Cleft palate TAS TAS 31% OMIM:271640 HPO Feb 17, 2009
+OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0000300 Oval face TAS TAS OMIM:271640 HPO Feb 17, 2009
+OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0000343 Long philtrum TAS TAS OMIM:271640 HPO Feb 17, 2009
+OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0000470 Short neck TAS TAS OMIM:271640 HPO Feb 17, 2009
OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0000520 Proptosis IEA IEA OMIM:271640 HPO Feb 17, 2009
OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0000545 Myopia IEA IEA OMIM:271640 HPO Feb 17, 2009
OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0000592 Blue sclerae IEA IEA OMIM:271640 HPO Feb 17, 2009
-OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0000878 11 pairs of ribs IEA IEA OMIM:271640 HPO Feb 17, 2009
-OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0000887 Cupped ribs IEA IEA OMIM:271640 HPO Feb 17, 2009
+OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0000878 11 pairs of ribs TAS TAS OMIM:271640 HPO Feb 17, 2009
+OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0000887 Cupped ribs TAS TAS OMIM:271640 HPO Feb 17, 2009
OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0000904 Flaring of rib cage IEA IEA OMIM:271640 HPO Feb 17, 2009
OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0001027 Soft, doughy skin IEA IEA OMIM:271640 HPO Feb 17, 2009
OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0001252 Muscular hypotonia IEA IEA OMIM:271640 HPO Feb 17, 2009
@@ -26,7 +25,7 @@
OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0001822 Hallux valgus IEA IEA OMIM:271640 HPO Feb 17, 2009
OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0001840 Metatarsus adductus IEA IEA OMIM:271640 HPO Feb 17, 2009
OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0002176 Spinal cord compression IEA IEA OMIM:271640 HPO Feb 17, 2009
-OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0002651 Spondyloepimetaphyseal dysplasia IEA IEA OMIM:271640 HPO Feb 17, 2009
+OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0002651 Spondyloepimetaphyseal dysplasia TAS TAS OMIM:271640 HPO Feb 17, 2009
OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0002673 Coxa valga IEA IEA OMIM:271640 HPO Feb 17, 2009
OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0002751 Kyphoscoliosis IEA IEA OMIM:271640 HPO Feb 17, 2009
OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0002827 Hip dislocation IEA IEA OMIM:271640 HPO Feb 17, 2009
@@ -35,11 +34,11 @@
OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0003016 Metaphyseal widening IEA IEA OMIM:271640 HPO Feb 17, 2009
OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0003032 Short femoral neck IEA IEA OMIM:271640 HPO Feb 17, 2009
OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0003048 Radial head subluxation IEA IEA OMIM:271640 HPO Feb 17, 2009
-OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0003300 Ovoid vertebral bodies IEA IEA OMIM:271640 HPO Feb 17, 2009
+OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0003300 Ovoid vertebral bodies TAS TAS OMIM:271640 HPO Feb 17, 2009
OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0003301 Irregular vertebral endplates IEA IEA OMIM:271640 HPO Feb 17, 2009
-OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0003421 Platyspondyly (childhood) IEA IEA OMIM:271640 HPO Feb 17, 2009
+OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0000926 Platyspondyly HP:0011463 Childhood onset IEA IEA OMIM:271640 HPO Feb 17, 2009
OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0003510 Severe short stature IEA IEA OMIM:271640 HPO Feb 17, 2009
-OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0008818 Large, flared iliac wings IEA IEA OMIM:271640 HPO Feb 17, 2009
+OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0008818 Large iliac wings IEA IEA OMIM:271640 HPO Feb 17, 2009
OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0008824 Hypoplastic iliac body IEA IEA OMIM:271640 HPO Feb 17, 2009
OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0009836 Broad distal phalanx of finger IEA IEA OMIM:271640 HPO Feb 17, 2009
OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0010049 Short metacarpal IEA IEA OMIM:271640 HPO Feb 17, 2009
@@ -53,16 +52,17 @@
OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0001083 Ectopia lentis TAS TAS OMIM:271640 HPO:probinson Aug 11, 2013
OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0001799 Short nail TAS TAS OMIM:271640 HPO Aug 11, 2013
OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0002869 Flared iliac wings TAS TAS OMIM:271640 HPO:probinson Aug 11, 2013
-OMIM:271640 #271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH ORWITHOUT FRACTURES; SEMDJL1;;SEMDJL HP:0004325 Decreased body weight IEA IEA OMIM-CS:GROWTH_WEIGHT > LOW WEIGHT OMIM:271640 HPO:skoehler 18.08.2013
-OMIM:271640 #271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH ORWITHOUT FRACTURES; SEMDJL1;;SEMDJL HP:0000347 Micrognathia IEA IEA OMIM-CS:HEAD AND NECK_FACE > MICROGNATHIA OMIM:271640 HPO:skoehler 18.08.2013
-OMIM:271640 #271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH ORWITHOUT FRACTURES; SEMDJL1;;SEMDJL HP:0011220 Prominent forehead IEA IEA OMIM-CS:HEAD AND NECK_FACE > PROMINENT FOREHEAD OMIM:271640 HPO:skoehler 18.08.2013
-OMIM:271640 #271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH ORWITHOUT FRACTURES; SEMDJL1;;SEMDJL HP:0011341 Long upper lip IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > LONG UPPER LIP OMIM:271640 HPO:skoehler 18.08.2013
-OMIM:271640 #271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH ORWITHOUT FRACTURES; SEMDJL1;;SEMDJL HP:0001371 Flexion contracture IEA IEA OMIM-CS:SKELETAL > JOINT CONTRACTURES OMIM:271640 HPO:skoehler 18.08.2013
-OMIM:271640 #271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH ORWITHOUT FRACTURES; SEMDJL1;;SEMDJL HP:0000939 Osteoporosis IEA IEA OMIM-CS:SKELETAL > OSTEOPOROSIS OMIM:271640 HPO:skoehler 18.08.2013
-OMIM:271640 #271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH ORWITHOUT FRACTURES; SEMDJL1;;SEMDJL HP:0004233 Advanced ossification of carpal bones IEA IEA OMIM-CS:SKELETAL_HANDS > ADVANCED CARPAL OSSIFICATION OMIM:271640 HPO:skoehler 18.08.2013
-OMIM:271640 #271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH ORWITHOUT FRACTURES; SEMDJL1;;SEMDJL HP:0009702 Carpal synostosis IEA IEA rare OMIM-CS:SKELETAL_HANDS > CARPAL FUSION (RARE) OMIM:271640 HPO:skoehler 18.08.2013
-OMIM:271640 #271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH ORWITHOUT FRACTURES; SEMDJL1;;SEMDJL HP:0003015 Flared metaphyses IEA IEA OMIM-CS:SKELETAL_LIMBS > METAPHYSEAL FLARING OMIM:271640 HPO:skoehler 18.08.2013
-OMIM:271640 #271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH ORWITHOUT FRACTURES; SEMDJL1;;SEMDJL HP:0002209 Sparse scalp hair IEA IEA OMIM-CS:SKIN, NAILS, HAIR_HAIR > SPARSE SCALP HAIR OMIM:271640 HPO:skoehler 18.08.2013
-OMIM:271640 #271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH ORWITHOUT FRACTURES; SEMDJL1;;SEMDJL HP:0001030 Fragile skin IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > SKIN FRAGILITY OMIM:271640 HPO:skoehler 18.08.2013
-OMIM:271640 #271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH ORWITHOUT FRACTURES; SEMDJL1;;SEMDJL HP:0002756 Pathologic fracture IEA IEA OMIM-CS:SKELETAL > SPONTANEOUS FRACTURES OMIM:271640 HPO:skoehler 06.10.2013
-OMIM:271640 #271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH ORWITHOUT FRACTURES; SEMDJL1;;SEMDJL HP:0030043 Hip Subluxation IEA IEA OMIM-CS:SKELETAL_PELVIS > HIP SUBLUXATION OMIM:271640 HPO:skoehler 20.01.2015
+OMIM:271640 #271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH ORWITHOUT FRACTURES; SEMDJL1;;SEMDJL HP:0004325 Decreased body weight IEA IEA OMIM-CS:GROWTH_WEIGHT > LOW WEIGHT OMIM:271640 HPO:skoehler Aug 18, 2013
+OMIM:271640 #271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH ORWITHOUT FRACTURES; SEMDJL1;;SEMDJL HP:0000347 Micrognathia IEA IEA OMIM-CS:HEAD AND NECK_FACE > MICROGNATHIA OMIM:271640 HPO:skoehler Aug 18, 2013
+OMIM:271640 #271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH ORWITHOUT FRACTURES; SEMDJL1;;SEMDJL HP:0011220 Prominent forehead IEA IEA OMIM-CS:HEAD AND NECK_FACE > PROMINENT FOREHEAD OMIM:271640 HPO:skoehler Aug 18, 2013
+OMIM:271640 #271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH ORWITHOUT FRACTURES; SEMDJL1;;SEMDJL HP:0011341 Long upper lip IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > LONG UPPER LIP OMIM:271640 HPO:skoehler Aug 18, 2013
+OMIM:271640 #271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH ORWITHOUT FRACTURES; SEMDJL1;;SEMDJL HP:0001371 Flexion contracture IEA IEA OMIM-CS:SKELETAL > JOINT CONTRACTURES OMIM:271640 HPO:skoehler Aug 18, 2013
+OMIM:271640 #271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH ORWITHOUT FRACTURES; SEMDJL1;;SEMDJL HP:0000939 Osteoporosis IEA IEA OMIM-CS:SKELETAL > OSTEOPOROSIS OMIM:271640 HPO:skoehler Aug 18, 2013
+OMIM:271640 #271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH ORWITHOUT FRACTURES; SEMDJL1;;SEMDJL HP:0004233 Advanced ossification of carpal bones IEA IEA OMIM-CS:SKELETAL_HANDS > ADVANCED CARPAL OSSIFICATION OMIM:271640 HPO:skoehler Aug 18, 2013
+OMIM:271640 #271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH ORWITHOUT FRACTURES; SEMDJL1;;SEMDJL HP:0009702 Carpal synostosis IEA IEA rare OMIM-CS:SKELETAL_HANDS > CARPAL FUSION (RARE) OMIM:271640 HPO:skoehler Aug 18, 2013
+OMIM:271640 #271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH ORWITHOUT FRACTURES; SEMDJL1;;SEMDJL HP:0003015 Flared metaphyses IEA IEA OMIM-CS:SKELETAL_LIMBS > METAPHYSEAL FLARING OMIM:271640 HPO:skoehler Aug 18, 2013
+OMIM:271640 #271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH ORWITHOUT FRACTURES; SEMDJL1;;SEMDJL HP:0002209 Sparse scalp hair IEA IEA OMIM-CS:SKIN, NAILS, HAIR_HAIR > SPARSE SCALP HAIR OMIM:271640 HPO:skoehler Aug 18, 2013
+OMIM:271640 #271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH ORWITHOUT FRACTURES; SEMDJL1;;SEMDJL HP:0001030 Fragile skin IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > SKIN FRAGILITY OMIM:271640 HPO:skoehler Aug 18, 2013
+OMIM:271640 #271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH ORWITHOUT FRACTURES; SEMDJL1;;SEMDJL HP:0002756 Pathologic fracture IEA IEA OMIM-CS:SKELETAL > SPONTANEOUS FRACTURES OMIM:271640 HPO:skoehler Oct 6, 2013
+OMIM:271640 #271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH ORWITHOUT FRACTURES; SEMDJL1;;SEMDJL HP:0030043 Hip Subluxation IEA IEA OMIM-CS:SKELETAL_PELVIS > HIP SUBLUXATION OMIM:271640 HPO:skoehler Jan 20, 2015
+OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0012368 Flat face TAS TAS OMIM:271640 HPO:probinson Feb 28, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601495.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601495.tab 2015-02-28 13:48:58 UTC (rev 5314)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601495.tab 2015-02-28 17:02:28 UTC (rev 5315)
@@ -9,7 +9,6 @@
OMIM:601495 #601495 AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE; AGM1;;AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGHM DEFECT HP:0004432 Agammaglobulinemia IEA IEA OMIM-CS:IMMUNOLOGY > AGAMMAGLOBULINEMIA OMIM:601495 HPO:skoehler Oct 16, 2012
OMIM:601495 #601495 AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE; AGM1;;AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGHM DEFECT HP:0002743 Recurrent enteroviral infections IEA IEA OMIM-CS:IMMUNOLOGY > ENTEROVIRAL INFECTIONS OMIM:601495 HPO:skoehler Oct 16, 2012
OMIM:601495 #601495 AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE; AGM1;;AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGHM DEFECT HP:0004313 Hypogammaglobulinemia IEA IEA OMIM-CS:IMMUNOLOGY > HYPOGAMMAGLOBULINEMIA, PROFOUND OMIM:601495 HPO:skoehler Oct 16, 2012
-OMIM:601495 #601495 AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE; AGM1;;AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGHM DEFECT IEA IEA OMIM-CS:IMMUNOLOGY > PSEUDOMONAS INFECTIONS OMIM:601495 HPO:skoehler Oct 16, 2012
OMIM:601495 #601495 AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE; AGM1;;AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGHM DEFECT HP:0002718 Recurrent bacterial infections IEA IEA OMIM-CS:IMMUNOLOGY > RECURRENT BACTERIAL INFECTIONS OMIM:601495 HPO:skoehler Oct 16, 2012
OMIM:601495 #601495 AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE; AGM1;;AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGHM DEFECT HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:601495 HPO:skoehler Oct 16, 2012
OMIM:601495 #601495 AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE; AGM1;;AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGHM DEFECT HP:0001875 Neutropenia IEA IEA OMIM-CS:LABORATORY ABNORMALITIES > NEUTROPENIA OMIM:601495 HPO:skoehler Oct 16, 2012
@@ -17,5 +16,5 @@
OMIM:601495 #601495 AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE; AGM1;;AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGHM DEFECT HP:0002205 Recurrent respiratory infections IEA IEA OMIM-CS:RESPIRATORY > RECURRENT RESPIRATORY INFECTIONS OMIM:601495 HPO:skoehler Oct 16, 2012
OMIM:601495 #601495 AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE; AGM1;;AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGHM DEFECT HP:0002110 Bronchiectasis IEA IEA OMIM-CS:RESPIRATORY_AIRWAYS > BRONCHIECTASIS OMIM:601495 HPO:skoehler Oct 16, 2012
OMIM:601495 #601495 AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE; AGM1;;AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGHM DEFECT HP:0002090 Pneumonia IEA IEA OMIM-CS:RESPIRATORY_LUNG > PNEUMONIA, RECURRENT OMIM:601495 HPO:skoehler Oct 16, 2012
-OMIM:601495 #601495 AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE; AGM1;;AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGHM DEFECT HP:0011108 Recurrent sinusitis IEA IEA OMIM-CS:HEAD AND NECK_HEAD > SINUSITIS, RECURRENT OMIM:601495 HPO:skoehler 21.11.2012
-OMIM:601495 #601495 AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE; AGM1;;AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGHM DEFECT HP:0006532 Recurrent pneumonia IEA IEA OMIM-CS:RESPIRATORY_LUNG > PNEUMONIA, RECURRENT OMIM:601495 HPO:skoehler 21.11.2012
+OMIM:601495 #601495 AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE; AGM1;;AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGHM DEFECT HP:0011108 Recurrent sinusitis IEA IEA OMIM-CS:HEAD AND NECK_HEAD > SINUSITIS, RECURRENT OMIM:601495 HPO:skoehler Nov 21, 2012
+OMIM:601495 #601495 AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE; AGM1;;AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGHM DEFECT HP:0006532 Recurrent pneumonia IEA IEA OMIM-CS:RESPIRATORY_LUNG > PNEUMONIA, RECURRENT OMIM:601495 HPO:skoehler Nov 21, 2012
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613330.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613330.tab 2015-02-28 13:48:58 UTC (rev 5314)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613330.tab 2015-02-28 17:02:28 UTC (rev 5315)
@@ -4,5 +4,6 @@
OMIM:613330 #613330 SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA; SMMD NKX3-2 HP:0004288 Pseudoepiphyses of hand bones TAS TAS OMIM:613330 HPO:probinson Jun 2, 2013
OMIM:613330 #613330 SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA; SMMD NKX3-2 HP:0100569 Abnormal vertebral ossification TAS TAS OMIM:613330 HPO:probinson Jun 2, 2013
OMIM:613330 #613330 SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA; SMMD NKX3-2 HP:0002970 Genu varum TAS TAS OMIM:613330 HPO:probinson Jun 2, 2013
-OMIM:613330 #613330 SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA; SMMD NKX3-2 HP:0000773 Short ribs TAS TAS OMIM:613330 HPO:probinson Jun 2, 2013
-OMIM:613330 #613330 SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA; SMMD HP:0100255 Metaphyseal dysplasia IEA IEA Disease name contained:dylo-megaepiphyseal-metaphyseal dysplasia; smmd OMIM:613330 HPO:skoehler 21.01.2015
+OMIM:613330 #613330 SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA; SMMD NKX3-2 HP:0000773 Short ribs TAS TAS OMIM:613330 HPO:probinson Jun 2, 2013
+OMIM:613330 #613330 SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA; SMMD HP:0100255 Metaphyseal dysplasia TAS TAS Disease name contained:dylo-megaepiphyseal-metaphyseal dysplasia; smmd OMIM:613330 HPO:skoehler Jan 21, 2015
+OMIM:613330 #613330 SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA; SMMD HP:0009714 Abnormality of the epididymis TAS TAS OMIM:613330 HPO:probinson Feb 28, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614134.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614134.tab 2015-02-28 13:48:58 UTC (rev 5314)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614134.tab 2015-02-28 17:02:28 UTC (rev 5315)
@@ -4,3 +4,9 @@
OMIM:614134 #614134 STICKLER SYNDROME, TYPE IV; STL4 COL9A1 HP:0011003 Severe Myopia TAS TAS OMIM:614134 HPO:probinson Aug 10, 2013
OMIM:614134 #614134 STICKLER SYNDROME, TYPE IV; STL4 COL9A1 HP:0007964 Degenerative vitreoretinopathy TAS TAS OMIM:614134 HPO:probinson Aug 10, 2013
OMIM:614134 #614134 STICKLER SYNDROME, TYPE IV; STL4 COL9A1 HP:0002656 Epiphyseal dysplasia TAS TAS OMIM:614134 HPO:probinson Aug 10, 2013
+OMIM:614134 #614134 STICKLER SYNDROME, TYPE IV; STL4 COL9A1 HP:0004322 Short stature PCS PCS PMID:16909383 HPO:probinson Feb 28, 2015
+OMIM:614134 #614134 STICKLER SYNDROME, TYPE IV; STL4 COL9A1 HP:0002857 Genu valgum PCS PCS 4/4 PMID:16909383 HPO:probinson Feb 28, 2015
+OMIM:614134 #614134 STICKLER SYNDROME, TYPE IV; STL4 COL9A1 HP:0012368 Flat face PCS PCS 4/4 PMID:16909383 HPO:probinson Feb 28, 2015
+OMIM:614134 #614134 STICKLER SYNDROME, TYPE IV; STL4 COL9A1 HP:0000483 Astigmatism PCS PCS 4/4 PMID:16909383 HPO:probinson Feb 28, 2015
+OMIM:614134 #614134 STICKLER SYNDROME, TYPE IV; STL4 COL9A1 HP:0003370 Flat capital femoral epiphysis PCS PCS 2/4 PMID:16909383 HPO:probinson Feb 28, 2015
+OMIM:614134 #614134 STICKLER SYNDROME, TYPE IV; STL4 COL9A1 HP:0005041 Irregular capital femoral epiphysis PCS PCS 2/4 PMID:16909383 HPO:probinson Feb 28, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614135.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614135.tab 2015-02-28 13:48:58 UTC (rev 5314)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614135.tab 2015-02-28 17:02:28 UTC (rev 5315)
@@ -1,12 +1,12 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:614135 #614135 EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT OMIM:614135 HPO:skoehler Oct 17, 2012
-OMIM:614135 #614135 EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6 HP:0002654 Multiple epiphyseal dysplasia IEA IEA OMIM-CS:SKELETAL > MULTIPLE EPIPHYSEAL DYSPLASIA OMIM:614135 HPO:skoehler Oct 17, 2012
-OMIM:614135 #614135 EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6 HP:0001425 Heterogeneous IEA IEA OMIM-CS:MISCELLANEOUS > MED IS A HETEROGENEOUS DISORDER (SEE MED1 (132400), MED2 (600204), OMIM:614135 HPO:skoehler Nov 21, 2012
-OMIM:614135 #614135 EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6 HP:0002758 Osteoarthritis HP:0003621 Juvenile onset IEA IEA OMIM-CS:SKELETAL > EARLY ONSET OSTEOARTHRITIS OMIM:614135 HPO:skoehler Nov 21, 2012
-OMIM:614135 #614135 EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6 HP:0002815 Abnormality of the knees IEA IEA OMIM-CS:SKELETAL_LIMBS > IRREGULAR EPIPHYSES (KNEE) OMIM:614135 HPO:skoehler Nov 21, 2012
-OMIM:614135 #614135 EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6 HP:0002829 Arthralgia IEA IEA OMIM-CS:SKELETAL_LIMBS > KNEE ARTHRALGIA OMIM:614135 HPO:skoehler Nov 21, 2012
-OMIM:614135 #614135 EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6 HP:0003365 Arthralgia of the hip IEA IEA OMIM-CS:SKELETAL_PELVIS > HIP ARTHRALGIA OMIM:614135 HPO:skoehler Nov 21, 2012
-OMIM:614135 #614135 EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6 HP:0005106 Abnormality of the vertebral endplates IEA IEA OMIM-CS:SKELETAL_SPINE > ENDPLATE IRREGULARITIES (THORACIC-LUMBAR VERTEBRAE) OMIM:614135 HPO:skoehler Nov 21, 2012
-OMIM:614135 #614135 EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6 HP:0030041 Schmorl's node IEA IEA OMIM-CS:SKELETAL_SPINE > SCHMORL'S NODES OMIM:614135 HPO:skoehler 10.10.2014
-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
-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
+OMIM:614135 #614135 EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6 HP:0000006 Autosomal dominant inheritance TAS TAS OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT OMIM:614135 HPO:skoehler Oct 17, 2012
+OMIM:614135 #614135 EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6 HP:0002654 Multiple epiphyseal dysplasia TAS TAS OMIM-CS:SKELETAL > MULTIPLE EPIPHYSEAL DYSPLASIA OMIM:614135 HPO:skoehler Oct 17, 2012
+OMIM:614135 #614135 EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6 HP:0002758 Osteoarthritis HP:0003621 Juvenile onset TAS TAS OMIM-CS:SKELETAL > EARLY ONSET OSTEOARTHRITIS OMIM:614135 HPO:skoehler Nov 21, 2012
+OMIM:614135 #614135 EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6 HP:0002815 Abnormality of the knees TAS TAS OMIM-CS:SKELETAL_LIMBS > IRREGULAR EPIPHYSES (KNEE) OMIM:614135 HPO:skoehler Nov 21, 2012
+OMIM:614135 #614135 EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6 HP:0002829 Arthralgia TAS TAS OMIM-CS:SKELETAL_LIMBS > KNEE ARTHRALGIA OMIM:614135 HPO:skoehler Nov 21, 2012
+OMIM:614135 #614135 EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6 HP:0003365 Arthralgia of the hip TAS TAS OMIM-CS:SKELETAL_PELVIS > HIP ARTHRALGIA OMIM:614135 HPO:skoehler Nov 21, 2012
+OMIM:614135 #614135 EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6 HP:0030041 Schmorl's node TAS TAS OMIM-CS:SKELETAL_SPINE > SCHMORL'S NODES OMIM:614135 HPO:skoehler Oct 10, 2014
+OMIM:614135 #614135 EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6 HP:0010585 Small epiphyses PCS PCS see Table 1 PMID:11565064 HPO:skoehler Feb 28, 2015
+OMIM:614135 #614135 EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6 HP:0010582 Irregular epiphyses PCS PCS see Table 1 PMID:11565064 HPO:skoehler Feb 28, 2015
+OMIM:614135 #614135 EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6 HP:0003301 Irregular vertebral endplates TAS TAS OMIM-CS:SKELETAL_SPINE > ENDPLATE IRREGULARITIES (THORACIC-LUMBAR VERTEBRAE) OMIM:614135 HPO:skoehler Feb 28, 2015
+OMIM:614135 #614135 EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6 HP:0011463 Childhood onset TAS TAS OMIM-CS:SKELETAL_SPINE > SCHMORL'S NODES OMIM:614135 HPO:skoehler Feb 28, 2015
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From: <koe...@us...> - 2015-02-26 12:27:04
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Revision: 5312
http://sourceforge.net/p/obo/svn/5312
Author: koehlers
Date: 2015-02-26 12:27:02 +0000 (Thu, 26 Feb 2015)
Log Message:
-----------
25 new entries from omim
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300942.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608149.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609289.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615668.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616158.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616170.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616171.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616172.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616176.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616185.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616187.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616188.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616192.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616193.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616198.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616199.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616200.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616201.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616202.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616204.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616209.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616211.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616212.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616214.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616216.tab
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300942.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300942.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300942.tab 2015-02-26 12:27:02 UTC (rev 5312)
@@ -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:300942 #300942 CHROMOSOME Xq26.3 DUPLICATION SYNDROME;;CHROMOSOME Xq26 MICRODUPLICATION SYNDROME;;X-LINKED ACROGIGANTISM; XLAG HP:0002893 Pituitary adenoma IEA IEA OMIM-CS:ENDOCRINE FEATURES > PITUITARY ADENOMA OMIM:300942 HPO:skoehler 22.02.2015
+OMIM:300942 #300942 CHROMOSOME Xq26.3 DUPLICATION SYNDROME;;CHROMOSOME Xq26 MICRODUPLICATION SYNDROME;;X-LINKED ACROGIGANTISM; XLAG HP:0000845 Growth hormone excess IEA IEA OMIM-CS:HEAD AND NECK_FACE > ACROMEGALY OMIM:300942 HPO:skoehler 22.02.2015
+OMIM:300942 #300942 CHROMOSOME Xq26.3 DUPLICATION SYNDROME;;CHROMOSOME Xq26 MICRODUPLICATION SYNDROME;;X-LINKED ACROGIGANTISM; XLAG HP:0000280 Coarse facial features IEA IEA OMIM-CS:HEAD AND NECK_FACE > COARSE FACIES OMIM:300942 HPO:skoehler 22.02.2015
+OMIM:300942 #300942 CHROMOSOME Xq26.3 DUPLICATION SYNDROME;;CHROMOSOME Xq26 MICRODUPLICATION SYNDROME;;X-LINKED ACROGIGANTISM; XLAG HP:0002893 Pituitary adenoma IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PITUITARY ADENOMA OMIM:300942 HPO:skoehler 22.02.2015
+OMIM:300942 #300942 CHROMOSOME Xq26.3 DUPLICATION SYNDROME;;CHROMOSOME Xq26 MICRODUPLICATION SYNDROME;;X-LINKED ACROGIGANTISM; XLAG HP:0005616 Accelerated skeletal maturation IEA IEA OMIM-CS:SKELETAL > ADVANCED BONE AGE OMIM:300942 HPO:skoehler 22.02.2015
+OMIM:300942 #300942 CHROMOSOME Xq26.3 DUPLICATION SYNDROME;;CHROMOSOME Xq26 MICRODUPLICATION SYNDROME;;X-LINKED ACROGIGANTISM; XLAG HP:0001833 Long foot IEA IEA OMIM-CS:SKELETAL_FEET > LARGE FEET OMIM:300942 HPO:skoehler 22.02.2015
+OMIM:300942 #300942 CHROMOSOME Xq26.3 DUPLICATION SYNDROME;;CHROMOSOME Xq26 MICRODUPLICATION SYNDROME;;X-LINKED ACROGIGANTISM; XLAG HP:0001176 Large hands IEA IEA OMIM-CS:SKELETAL_HANDS > LARGE HANDS OMIM:300942 HPO:skoehler 22.02.2015
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300942.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608149.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608149.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608149.tab 2015-02-26 12:27:02 UTC (rev 5312)
@@ -0,0 +1,34 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:608149 #608149 KAGAMI-OGATA SYNDROME;;UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14 HP:0001540 Diastasis recti IEA IEA OMIM-CS:ABDOMEN_EXTERNAL FEATURES > DIASTASIS RECTI OMIM:608149 HPO:skoehler 22.02.2015
+OMIM:608149 #608149 KAGAMI-OGATA SYNDROME;;UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14 HP:0000023 Inguinal hernia IEA IEA rare OMIM-CS:ABDOMEN_EXTERNAL FEATURES > INGUINAL HERNIA (IN SOME PATIENTS) OMIM:608149 HPO:skoehler 22.02.2015
+OMIM:608149 #608149 KAGAMI-OGATA SYNDROME;;UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14 HP:0001539 Omphalocele IEA IEA rare OMIM-CS:ABDOMEN_EXTERNAL FEATURES > OMPHALOCELE (IN SOME PATIENTS) OMIM:608149 HPO:skoehler 22.02.2015
+OMIM:608149 #608149 KAGAMI-OGATA SYNDROME;;UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14 HP:0002240 Hepatomegaly IEA IEA rare OMIM-CS:ABDOMEN_LIVER > HEPATOMEGALY (IN SOME PATIENTS) OMIM:608149 HPO:skoehler 22.02.2015
+OMIM:608149 #608149 KAGAMI-OGATA SYNDROME;;UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14 HP:0001744 Splenomegaly IEA IEA rare OMIM-CS:ABDOMEN_SPLEEN > SPLENOMEGALY (RARE) OMIM:608149 HPO:skoehler 22.02.2015
+OMIM:608149 #608149 KAGAMI-OGATA SYNDROME;;UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14 HP:0001631 Defect in the atrial septum IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > ATRIAL SEPTAL DEFECT (IN SOME PATIENTS) OMIM:608149 HPO:skoehler 22.02.2015
+OMIM:608149 #608149 KAGAMI-OGATA SYNDROME;;UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14 HP:0001643 Patent ductus arteriosus IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > PATENT DUCTUS ARTERIOSUS (RARE) OMIM:608149 HPO:skoehler 22.02.2015
+OMIM:608149 #608149 KAGAMI-OGATA SYNDROME;;UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14 HP:0001642 Pulmonic stenosis IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > PULMONARY STENOSIS (RARE) OMIM:608149 HPO:skoehler 22.02.2015
+OMIM:608149 #608149 KAGAMI-OGATA SYNDROME;;UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14 HP:0001629 Ventricular septal defect IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > VENTRICULAR SEPTAL DEFECT (IN SOME PATIENTS) OMIM:608149 HPO:skoehler 22.02.2015
+OMIM:608149 #608149 KAGAMI-OGATA SYNDROME;;UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14 HP:0002092 Pulmonary hypertension IEA IEA rare OMIM-CS:CARDIOVASCULAR_VASCULAR > PULMONARY HYPERTENSION (RARE) OMIM:608149 HPO:skoehler 22.02.2015
+OMIM:608149 #608149 KAGAMI-OGATA SYNDROME;;UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14 HP:0000890 Long clavicles IEA IEA rare OMIM-CS:CHEST_RIBS, STERNUM, CLAVICLES, AND SCAPULAE > ELONGATED CLAVICLES (IN SOME PATIENTS) OMIM:608149 HPO:skoehler 22.02.2015
+OMIM:608149 #608149 KAGAMI-OGATA SYNDROME;;UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14 HP:0000883 Thin ribs IEA IEA rare OMIM-CS:CHEST_RIBS, STERNUM, CLAVICLES, AND SCAPULAE > THIN RIBS (IN SOME PATIENTS) OMIM:608149 HPO:skoehler 22.02.2015
+OMIM:608149 #608149 KAGAMI-OGATA SYNDROME;;UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14 HP:0008551 Microtia IEA IEA OMIM-CS:HEAD AND NECK_EARS > SMALL EARS OMIM:608149 HPO:skoehler 22.02.2015
+OMIM:608149 #608149 KAGAMI-OGATA SYNDROME;;UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14 HP:0000581 Blepharophimosis IEA IEA OMIM-CS:HEAD AND NECK_EYES > BLEPHAROPHIMOSIS OMIM:608149 HPO:skoehler 22.02.2015
+OMIM:608149 #608149 KAGAMI-OGATA SYNDROME;;UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14 HP:0012745 Short palpebral fissure IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > SHORT PALPEBRAL FISSURES (IN SOME PATIENTS) OMIM:608149 HPO:skoehler 22.02.2015
+OMIM:608149 #608149 KAGAMI-OGATA SYNDROME;;UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14 HP:0000347 Micrognathia IEA IEA OMIM-CS:HEAD AND NECK_FACE > MICROGNATHIA OMIM:608149 HPO:skoehler 22.02.2015
+OMIM:608149 #608149 KAGAMI-OGATA SYNDROME;;UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14 HP:0000278 Retrognathia IEA IEA OMIM-CS:HEAD AND NECK_FACE > RETROGNATHIA OMIM:608149 HPO:skoehler 22.02.2015
+OMIM:608149 #608149 KAGAMI-OGATA SYNDROME;;UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14 HP:0002007 Frontal bossing IEA IEA rare OMIM-CS:HEAD AND NECK_HEAD > FRONTAL BOSSING (IN SOME PATIENTS) OMIM:608149 HPO:skoehler 22.02.2015
+OMIM:608149 #608149 KAGAMI-OGATA SYNDROME;;UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14 HP:0000463 Anteverted nares IEA IEA rare OMIM-CS:HEAD AND NECK_NOSE > ANTEVERTED NARES (IN SOME PATIENTS) OMIM:608149 HPO:skoehler 22.02.2015
+OMIM:608149 #608149 KAGAMI-OGATA SYNDROME;;UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14 HP:0005280 Depressed nasal bridge IEA IEA OMIM-CS:HEAD AND NECK_NOSE > DEPRESSED NASAL BRIDGE OMIM:608149 HPO:skoehler 22.02.2015
+OMIM:608149 #608149 KAGAMI-OGATA SYNDROME;;UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14 HP:0001263 Global developmental delay IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DEVELOPMENTAL RETARDATION (IN SOME PATIENTS) OMIM:608149 HPO:skoehler 22.02.2015
+OMIM:608149 #608149 KAGAMI-OGATA SYNDROME;;UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14 HP:0001252 Muscular hypotonia IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPOTONIA (IN SOME PATIENTS) OMIM:608149 HPO:skoehler 22.02.2015
+OMIM:608149 #608149 KAGAMI-OGATA SYNDROME;;UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14 HP:0001250 Seizures IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES (RARE) OMIM:608149 HPO:skoehler 22.02.2015
+OMIM:608149 #608149 KAGAMI-OGATA SYNDROME;;UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14 HP:0001561 Polyhydramnios IEA IEA OMIM-CS:PRENATAL MANIFESTATIONS_AMNIOTIC FLUID > POLYHYDRAMNIOS OMIM:608149 HPO:skoehler 22.02.2015
+OMIM:608149 #608149 KAGAMI-OGATA SYNDROME;;UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14 HP:0001622 Premature birth IEA IEA OMIM-CS:PRENATAL MANIFESTATIONS_DELIVERY > PREMATURE DELIVERY OMIM:608149 HPO:skoehler 22.02.2015
+OMIM:608149 #608149 KAGAMI-OGATA SYNDROME;;UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14 HP:0001601 Laryngomalacia IEA IEA rare OMIM-CS:RESPIRATORY_LARYNX > LARYNGOMALACIA (RARE) OMIM:608149 HPO:skoehler 22.02.2015
+OMIM:608149 #608149 KAGAMI-OGATA SYNDROME;;UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14 HP:0002089 Pulmonary hypoplasia IEA IEA rare OMIM-CS:RESPIRATORY_LUNG > LUNG HYPOPLASIA (RARE) OMIM:608149 HPO:skoehler 22.02.2015
+OMIM:608149 #608149 KAGAMI-OGATA SYNDROME;;UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14 HP:0001371 Flexion contracture IEA IEA OMIM-CS:SKELETAL > JOINT CONTRACTURES OMIM:608149 HPO:skoehler 22.02.2015
+OMIM:608149 #608149 KAGAMI-OGATA SYNDROME;;UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14 HP:0100807 Long fingers IEA IEA rare OMIM-CS:SKELETAL_HANDS > LONG FINGERS (IN SOME PATIENTS) OMIM:608149 HPO:skoehler 22.02.2015
+OMIM:608149 #608149 KAGAMI-OGATA SYNDROME;;UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14 HP:0002673 Coxa valga IEA IEA rare OMIM-CS:SKELETAL_PELVIS > COXA VALGA (IN SOME PATIENTS) OMIM:608149 HPO:skoehler 22.02.2015
+OMIM:608149 #608149 KAGAMI-OGATA SYNDROME;;UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14 HP:0000347 Micrognathia IEA IEA rare OMIM-CS:SKELETAL_SKULL > HYPOPLASTIC MANDIBLE (RARE) OMIM:608149 HPO:skoehler 22.02.2015
+OMIM:608149 #608149 KAGAMI-OGATA SYNDROME;;UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14 HP:0000327 Hypoplasia of the maxilla IEA IEA rare OMIM-CS:SKELETAL_SKULL > HYPOPLASTIC MAXILLA (RARE) OMIM:608149 HPO:skoehler 22.02.2015
+OMIM:608149 #608149 KAGAMI-OGATA SYNDROME;;UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14 HP:0002751 Kyphoscoliosis IEA IEA rare OMIM-CS:SKELETAL_SPINE > KYPHOSCOLIOSIS (IN SOME PATIENTS) OMIM:608149 HPO:skoehler 22.02.2015
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608149.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609289.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609289.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609289.tab 2015-02-26 12:27:02 UTC (rev 5312)
@@ -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:609289 %609289 SYNCOPE, FAMILIAL VASOVAGAL; VVS;;SYNCOPE, FAMILIAL NEUROCARDIOGENIC HP:0002321 Vertigo IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DIZZINESS OMIM:609289 HPO:skoehler 22.02.2015
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609289.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615668.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615668.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615668.tab 2015-02-26 12:27:02 UTC (rev 5312)
@@ -0,0 +1,21 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:615668 #615668 CHROMOSOME 5q12 DELETION SYNDROME HP:0002615 Hypotension IEA IEA OMIM-CS:CARDIOVASCULAR_VASCULAR > LOW BLOOD PRESSURE OMIM:615668 HPO:skoehler 22.02.2015
+OMIM:615668 #615668 CHROMOSOME 5q12 DELETION SYNDROME HP:0001510 Growth delay IEA IEA OMIM-CS:GROWTH_OTHER > GROWTH RETARDATION OMIM:615668 HPO:skoehler 22.02.2015
+OMIM:615668 #615668 CHROMOSOME 5q12 DELETION SYNDROME HP:0001519 Disproportionate tall stature IEA IEA OMIM-CS:GROWTH_OTHER > MARFANOID HABITUS OMIM:615668 HPO:skoehler 22.02.2015
+OMIM:615668 #615668 CHROMOSOME 5q12 DELETION SYNDROME HP:0000358 Posteriorly rotated ears IEA IEA OMIM-CS:HEAD AND NECK_EARS > POSTERIORLY ROTATED EARS OMIM:615668 HPO:skoehler 22.02.2015
+OMIM:615668 #615668 CHROMOSOME 5q12 DELETION SYNDROME HP:0000565 Esotropia IEA IEA OMIM-CS:HEAD AND NECK_EYES > ESOTROPIA OMIM:615668 HPO:skoehler 22.02.2015
+OMIM:615668 #615668 CHROMOSOME 5q12 DELETION SYNDROME HP:0000637 Long palpebral fissure IEA IEA OMIM-CS:HEAD AND NECK_EYES > LONG PALPEBRAL FISSURES OMIM:615668 HPO:skoehler 22.02.2015
+OMIM:615668 #615668 CHROMOSOME 5q12 DELETION SYNDROME HP:0000508 Ptosis IEA IEA OMIM-CS:HEAD AND NECK_EYES > PTOSIS OMIM:615668 HPO:skoehler 22.02.2015
+OMIM:615668 #615668 CHROMOSOME 5q12 DELETION SYNDROME HP:0000486 Strabismus IEA IEA OMIM-CS:HEAD AND NECK_EYES > STRABISMUS OMIM:615668 HPO:skoehler 22.02.2015
+OMIM:615668 #615668 CHROMOSOME 5q12 DELETION SYNDROME HP:0002003 Large forehead IEA IEA OMIM-CS:HEAD AND NECK_FACE > LARGE FOREHEAD OMIM:615668 HPO:skoehler 22.02.2015
+OMIM:615668 #615668 CHROMOSOME 5q12 DELETION SYNDROME HP:0000343 Long philtrum IEA IEA OMIM-CS:HEAD AND NECK_FACE > LONG PHILTRUM OMIM:615668 HPO:skoehler 22.02.2015
+OMIM:615668 #615668 CHROMOSOME 5q12 DELETION SYNDROME HP:0000347 Micrognathia IEA IEA OMIM-CS:HEAD AND NECK_FACE > MICROGNATHIA OMIM:615668 HPO:skoehler 22.02.2015
+OMIM:615668 #615668 CHROMOSOME 5q12 DELETION SYNDROME HP:0000331 Short chin IEA IEA OMIM-CS:HEAD AND NECK_FACE > SMALL CHIN OMIM:615668 HPO:skoehler 22.02.2015
+OMIM:615668 #615668 CHROMOSOME 5q12 DELETION SYNDROME HP:0000448 Prominent nose IEA IEA OMIM-CS:HEAD AND NECK_NOSE > PROMINENT NOSE OMIM:615668 HPO:skoehler 22.02.2015
+OMIM:615668 #615668 CHROMOSOME 5q12 DELETION SYNDROME HP:0001252 Muscular hypotonia IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > HYPOTONIA OMIM:615668 HPO:skoehler 22.02.2015
+OMIM:615668 #615668 CHROMOSOME 5q12 DELETION SYNDROME HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT OMIM:615668 HPO:skoehler 22.02.2015
+OMIM:615668 #615668 CHROMOSOME 5q12 DELETION SYNDROME HP:0001249 Intellectual disability IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTELLECTUAL DISABILITY OMIM:615668 HPO:skoehler 22.02.2015
+OMIM:615668 #615668 CHROMOSOME 5q12 DELETION SYNDROME HP:0001250 Seizures IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES (IN SOME PATIENTS) OMIM:615668 HPO:skoehler 22.02.2015
+OMIM:615668 #615668 CHROMOSOME 5q12 DELETION SYNDROME HP:0000750 Delayed speech and language development IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SPEECH DELAY OMIM:615668 HPO:skoehler 22.02.2015
+OMIM:615668 #615668 CHROMOSOME 5q12 DELETION SYNDROME HP:0010511 Long toe IEA IEA OMIM-CS:SKELETAL_FEET > LONG TOES OMIM:615668 HPO:skoehler 22.02.2015
+OMIM:615668 #615668 CHROMOSOME 5q12 DELETION SYNDROME HP:0100807 Long fingers IEA IEA OMIM-CS:SKELETAL_HANDS > LONG FINGERS OMIM:615668 HPO:skoehler 22.02.2015
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615668.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
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\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616158.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616158.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616158.tab 2015-02-26 12:27:02 UTC (rev 5312)
@@ -0,0 +1,15 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:616158 #616158 MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31 HP:0011968 Feeding difficulties IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > FEEDING DIFFICULTIES OMIM:616158 HPO:skoehler 22.02.2015
+OMIM:616158 #616158 MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31 HP:0000639 Nystagmus IEA IEA OMIM-CS:HEAD AND NECK_EYES > NYSTAGMUS OMIM:616158 HPO:skoehler 22.02.2015
+OMIM:616158 #616158 MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31 HP:0000486 Strabismus IEA IEA OMIM-CS:HEAD AND NECK_EYES > STRABISMUS OMIM:616158 HPO:skoehler 22.02.2015
+OMIM:616158 #616158 MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31 HP:0002058 Myopathic facies IEA IEA OMIM-CS:HEAD AND NECK_FACE > MYOPATHIC FACIES OMIM:616158 HPO:skoehler 22.02.2015
+OMIM:616158 #616158 MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31 HP:0000218 High palate IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > HIGH-ARCHED PALATE OMIM:616158 HPO:skoehler 22.02.2015
+OMIM:616158 #616158 MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31 HP:0000194 Open mouth IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > OPEN MOUTH OMIM:616158 HPO:skoehler 22.02.2015
+OMIM:616158 #616158 MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31 HP:0001252 Muscular hypotonia HP:0003623 Neonatal onset IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > HYPOTONIA, NEONATAL OMIM:616158 HPO:skoehler 22.02.2015
+OMIM:616158 #616158 MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31 HP:0012448 Delayed myelination IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED MYELINATION OMIM:616158 HPO:skoehler 22.02.2015
+OMIM:616158 #616158 MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31 HP:0001263 Global developmental delay IEA IEA MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE OMIM:616158 HPO:skoehler 22.02.2015
+OMIM:616158 #616158 MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31 HP:0003429 CNS hypomyelination IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPOMYELINATION OMIM:616158 HPO:skoehler 22.02.2015
+OMIM:616158 #616158 MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31 HP:0001344 Absent speech IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > LACK OF SPEECH OMIM:616158 HPO:skoehler 22.02.2015
+OMIM:616158 #616158 MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31 HP:0001336 Myoclonus IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MYOCLONIC JERKS OMIM:616158 HPO:skoehler 22.02.2015
+OMIM:616158 #616158 MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31 HP:0001250 Seizures IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES OMIM:616158 HPO:skoehler 22.02.2015
+OMIM:616158 #616158 MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31 HP:0002093 Respiratory insufficiency IEA IEA OMIM-CS:RESPIRATORY > RESPIRATORY INSUFFICIENCY OMIM:616158 HPO:skoehler 22.02.2015
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616158.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616170.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616170.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616170.tab 2015-02-26 12:27:02 UTC (rev 5312)
@@ -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:616170 #616170 MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT; CCMD HP:0011504 Bull's eye maculopathy IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > BULL'S EYE MACULOPATHY (IN SOME PATIENTS) OMIM:616170 HPO:skoehler 22.02.2015
+OMIM:616170 #616170 MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT; CCMD HP:0000505 Visual impairment IEA IEA OMIM-CS:HEAD AND NECK_EYES > DECREASED VISUAL ACUITY OMIM:616170 HPO:skoehler 22.02.2015
+OMIM:616170 #616170 MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT; CCMD HP:0000543 Optic disc pallor IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > OPTIC DISC PALLOR (RARE) OMIM:616170 HPO:skoehler 22.02.2015
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616170.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616171.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616171.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616171.tab 2015-02-26 12:27:02 UTC (rev 5312)
@@ -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:616171 #616171 MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2 HP:0004322 Short stature IEA IEA OMIM-CS:GROWTH_HEIGHT > SHORT STATURE OMIM:616171 HPO:skoehler 22.02.2015
+OMIM:616171 #616171 MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2 HP:0001511 Intrauterine growth retardation IEA IEA OMIM-CS:GROWTH_OTHER > PRENATAL GROWTH RETARDATION OMIM:616171 HPO:skoehler 22.02.2015
+OMIM:616171 #616171 MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2 HP:0000518 Cataract IEA IEA OMIM-CS:HEAD AND NECK_EYES > CATARACT OMIM:616171 HPO:skoehler 22.02.2015
+OMIM:616171 #616171 MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2 HP:0000505 Visual impairment IEA IEA OMIM-CS:HEAD AND NECK_EYES > IMPAIRED VISION OMIM:616171 HPO:skoehler 22.02.2015
+OMIM:616171 #616171 MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2 HP:0000482 Microcornea IEA IEA OMIM-CS:HEAD AND NECK_EYES > MICROCORNEA OMIM:616171 HPO:skoehler 22.02.2015
+OMIM:616171 #616171 MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2 HP:0000568 Microphthalmos IEA IEA OMIM-CS:HEAD AND NECK_EYES > MICROPHTHALMIA OMIM:616171 HPO:skoehler 22.02.2015
+OMIM:616171 #616171 MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2 HP:0000543 Optic disc pallor IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > PALE OPTIC DISCS (1 PATIENT) OMIM:616171 HPO:skoehler 22.02.2015
+OMIM:616171 #616171 MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2 HP:0000488 Retinopathy IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > RETINOPATHY (1 PATIENT) OMIM:616171 HPO:skoehler 22.02.2015
+OMIM:616171 #616171 MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2 HP:0000252 Microcephaly IEA IEA OMIM-CS:HEAD AND NECK_HEAD > MICROCEPHALY (UP TO -15 SD) OMIM:616171 HPO:skoehler 22.02.2015
+OMIM:616171 #616171 MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2 HP:0001272 Cerebellar atrophy IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR ATROPHY OMIM:616171 HPO:skoehler 22.02.2015
+OMIM:616171 #616171 MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2 HP:0002059 Cerebral atrophy IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBRAL ATROPHY OMIM:616171 HPO:skoehler 22.02.2015
+OMIM:616171 #616171 MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2 HP:0001263 Global developmental delay IEA IEA MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, PROFOUND OMIM:616171 HPO:skoehler 22.02.2015
+OMIM:616171 #616171 MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2 HP:0001249 Intellectual disability IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION OMIM:616171 HPO:skoehler 22.02.2015
+OMIM:616171 #616171 MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2 HP:0001250 Seizures IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES (IN SOME PATIENTS) OMIM:616171 HPO:skoehler 22.02.2015
+OMIM:616171 #616171 MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2 HP:0009879 Cortical gyral simplification IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SIMPLIFIED GYRAL PATTERN OMIM:616171 HPO:skoehler 22.02.2015
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616171.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616172.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616172.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616172.tab 2015-02-26 12:27:02 UTC (rev 5312)
@@ -0,0 +1,6 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:616172 #616172 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9; GEFSP9;;GEFS+, TYPE 9; GEFS+9 HP:0002121 Absence seizures IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ABSENCE SEIZURES OMIM:616172 HPO:skoehler 22.02.2015
+OMIM:616172 #616172 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9; GEFSP9;;GEFS+, TYPE 9; GEFS+9 HP:0010819 Atonic seizures IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ATONIC SEIZURES OMIM:616172 HPO:skoehler 22.02.2015
+OMIM:616172 #616172 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9; GEFSP9;;GEFS+, TYPE 9; GEFS+9 HP:0002384 Focal seizures with impairment of consciousness or awareness IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > COMPLEX PARTIAL SEIZURES OMIM:616172 HPO:skoehler 22.02.2015
+OMIM:616172 #616172 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9; GEFSP9;;GEFS+, TYPE 9; GEFS+9 HP:0001263 Global developmental delay IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT (IN SOME PATIENTS) OMIM:616172 HPO:skoehler 22.02.2015
+OMIM:616172 #616172 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9; GEFSP9;;GEFS+, TYPE 9; GEFS+9 HP:0002069 Generalized tonic-clonic seizures IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > GENERALIZED TONIC-CLONIC SEIZURES OMIM:616172 HPO:skoehler 22.02.2015
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616172.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616176.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616176.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616176.tab 2015-02-26 12:27:02 UTC (rev 5312)
@@ -0,0 +1,6 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:616176 #616176 BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19 HP:0000132 Menorrhagia IEA IEA OMIM-CS:GENITOURINARY_INTERNAL GENITALIA, FEMALE > MENORRHAGIA OMIM:616176 HPO:skoehler 22.02.2015
+OMIM:616176 #616176 BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19 HP:0000421 Epistaxis IEA IEA OMIM-CS:HEAD AND NECK_NOSE > EPISTAXIS OMIM:616176 HPO:skoehler 22.02.2015
+OMIM:616176 #616176 BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19 HP:0001903 Anemia IEA IEA OMIM-CS:HEMATOLOGY > ANEMIA OMIM:616176 HPO:skoehler 22.02.2015
+OMIM:616176 #616176 BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19 HP:0001892 Abnormal bleeding IEA IEA OMIM-CS:HEMATOLOGY > BLEEDING TENDENCY OMIM:616176 HPO:skoehler 22.02.2015
+OMIM:616176 #616176 BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19 HP:0007420 Spontaneous hematomas IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > SPONTANEOUS HEMATOMAS OMIM:616176 HPO:skoehler 22.02.2015
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616176.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616185.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616185.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616185.tab 2015-02-26 12:27:02 UTC (rev 5312)
@@ -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:616185 #616185 OVARIAN DYSGENESIS 4; ODG4 HP:0000786 Primary amenorrhea IEA IEA OMIM-CS:ENDOCRINE FEATURES > PRIMARY AMENORRHEA OMIM:616185 HPO:skoehler 22.02.2015
+OMIM:616185 #616185 OVARIAN DYSGENESIS 4; ODG4 HP:0004322 Short stature IEA IEA OMIM-CS:GROWTH_HEIGHT > SHORT STATURE OMIM:616185 HPO:skoehler 22.02.2015
+OMIM:616185 #616185 OVARIAN DYSGENESIS 4; ODG4 HP:0004325 Decreased body weight IEA IEA OMIM-CS:GROWTH_WEIGHT > LOW WEIGHT OMIM:616185 HPO:skoehler 22.02.2015
+OMIM:616185 #616185 OVARIAN DYSGENESIS 4; ODG4 HP:0002750 Delayed skeletal maturation IEA IEA OMIM-CS:SKELETAL > DELAYED BONE AGE OMIM:616185 HPO:skoehler 22.02.2015
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616185.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616187.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616187.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616187.tab 2015-02-26 12:27:02 UTC (rev 5312)
@@ -0,0 +1,6 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:616187 #616187 EPILEPSY, PROGRESSIVE MYOCLONIC 7; EPM7 HP:0001251 Ataxia IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ATAXIA (IN SOME PATIENTS) OMIM:616187 HPO:skoehler 22.02.2015
+OMIM:616187 #616187 EPILEPSY, PROGRESSIVE MYOCLONIC 7; EPM7 HP:0001272 Cerebellar atrophy IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR ATROPHY (IN SOME PATIENTS) OMIM:616187 HPO:skoehler 22.02.2015
+OMIM:616187 #616187 EPILEPSY, PROGRESSIVE MYOCLONIC 7; EPM7 HP:0001268 Mental deterioration IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > COGNITIVE DECLINE (IN SOME PATIENTS) OMIM:616187 HPO:skoehler 22.02.2015
+OMIM:616187 #616187 EPILEPSY, PROGRESSIVE MYOCLONIC 7; EPM7 HP:0001336 Myoclonus IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MYOCLONUS OMIM:616187 HPO:skoehler 22.02.2015
+OMIM:616187 #616187 EPILEPSY, PROGRESSIVE MYOCLONIC 7; EPM7 HP:0001337 Tremor IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > TREMOR OMIM:616187 HPO:skoehler 22.02.2015
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616187.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616188.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616188.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616188.tab 2015-02-26 12:27:02 UTC (rev 5312)
@@ -0,0 +1,6 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:616188 #616188 RETINAL DYSTROPHY AND OBESITY; RDOB HP:0001513 Obesity IEA IEA rare OMIM-CS:GROWTH_WEIGHT > OBESITY (IN SOME PATIENTS) OMIM:616188 HPO:skoehler 22.02.2015
+OMIM:616188 #616188 RETINAL DYSTROPHY AND OBESITY; RDOB HP:0000483 Astigmatism IEA IEA OMIM-CS:HEAD AND NECK_EYES > ASTIGMATISM OMIM:616188 HPO:skoehler 22.02.2015
+OMIM:616188 #616188 RETINAL DYSTROPHY AND OBESITY; RDOB HP:0000505 Visual impairment IEA IEA OMIM-CS:HEAD AND NECK_EYES > DECREASED VISUAL ACUITY OMIM:616188 HPO:skoehler 22.02.2015
+OMIM:616188 #616188 RETINAL DYSTROPHY AND OBESITY; RDOB HP:0000545 Myopia IEA IEA OMIM-CS:HEAD AND NECK_EYES > MYOPIA OMIM:616188 HPO:skoehler 22.02.2015
+OMIM:616188 #616188 RETINAL DYSTROPHY AND OBESITY; RDOB HP:0000541 Retinal detachment IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > RETINAL DETACHMENT (RARE) OMIM:616188 HPO:skoehler 22.02.2015
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616188.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616192.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616192.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616192.tab 2015-02-26 12:27:02 UTC (rev 5312)
@@ -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:616192 #616192 ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS ANDDIABETES MELLITUS; ACPHD HP:0100651 Type I diabetes mellitus IEA IEA OMIM-CS:ENDOCRINE FEATURES > INSULIN-DEPENDENT DIABETES MELLITUS OMIM:616192 HPO:skoehler 22.02.2015
+OMIM:616192 #616192 ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS ANDDIABETES MELLITUS; ACPHD HP:0004322 Short stature IEA IEA OMIM-CS:GROWTH_HEIGHT > SHORT STATURE OMIM:616192 HPO:skoehler 22.02.2015
+OMIM:616192 #616192 ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS ANDDIABETES MELLITUS; ACPHD HP:0000407 Sensorineural hearing impairment IEA IEA OMIM-CS:HEAD AND NECK_EARS > SENSORINEURAL HEARING LOSS OMIM:616192 HPO:skoehler 22.02.2015
+OMIM:616192 #616192 ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS ANDDIABETES MELLITUS; ACPHD HP:0001272 Cerebellar atrophy IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR ATROPHY OMIM:616192 HPO:skoehler 22.02.2015
+OMIM:616192 #616192 ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS ANDDIABETES MELLITUS; ACPHD HP:0002059 Cerebral atrophy IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBRAL ATROPHY OMIM:616192 HPO:skoehler 22.02.2015
+OMIM:616192 #616192 ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS ANDDIABETES MELLITUS; ACPHD HP:0003487 Babinski sign IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > EXTENSOR PLANTAR RESPONSES (IN SOME PATIENTS) OMIM:616192 HPO:skoehler 22.02.2015
+OMIM:616192 #616192 ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS ANDDIABETES MELLITUS; ACPHD HP:0002066 Gait ataxia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > GAIT ATAXIA OMIM:616192 HPO:skoehler 22.02.2015
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616192.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616193.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616193.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616193.tab 2015-02-26 12:27:02 UTC (rev 5312)
@@ -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:616193 #616193 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT47 HP:0001252 Muscular hypotonia IEA IEA rare OMIM-CS:MUSCLE, SOFT TISSUE > HYPOTONIA (IN SOME PATIENTS) OMIM:616193 HPO:skoehler 22.02.2015
+OMIM:616193 #616193 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT47 HP:0002384 Focal seizures with impairment of consciousness or awareness IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > COMPLEX PARTIAL SEIZURES (IN SOME PATIENTS) OMIM:616193 HPO:skoehler 22.02.2015
+OMIM:616193 #616193 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT47 HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT OMIM:616193 HPO:skoehler 22.02.2015
+OMIM:616193 #616193 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT47 HP:0002465 Poor speech IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > POOR SPEECH OMIM:616193 HPO:skoehler 22.02.2015
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616193.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616198.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616198.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616198.tab 2015-02-26 12:27:02 UTC (rev 5312)
@@ -0,0 +1,11 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:616198 #616198 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23; COXPD23 HP:0011968 Feeding difficulties IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > FEEDING PROBLEMS OMIM:616198 HPO:skoehler 22.02.2015
+OMIM:616198 #616198 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23; COXPD23 HP:0011675 Arrhythmia IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > ARRHYTHMIA OMIM:616198 HPO:skoehler 22.02.2015
+OMIM:616198 #616198 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23; COXPD23 HP:0001638 Cardiomyopathy IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > CARDIOMYOPATHY OMIM:616198 HPO:skoehler 22.02.2015
+OMIM:616198 #616198 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23; COXPD23 HP:0001511 Intrauterine growth retardation IEA IEA OMIM-CS:GROWTH_OTHER > INTRAUTERINE GROWTH RETARDATION OMIM:616198 HPO:skoehler 22.02.2015
+OMIM:616198 #616198 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23; COXPD23 HP:0000505 Visual impairment IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > VISUAL IMPAIRMENT (IN SOME PATIENTS) OMIM:616198 HPO:skoehler 22.02.2015
+OMIM:616198 #616198 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23; COXPD23 HP:0002151 Increased serum lactate IEA IEA OMIM-CS:LABORATORY ABNORMALITIES > INCREASED SERUM LACTATE OMIM:616198 HPO:skoehler 22.02.2015
+OMIM:616198 #616198 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23; COXPD23 HP:0003128 Lactic acidosis IEA IEA OMIM-CS:METABOLIC FEATURES > LACTIC ACIDOSIS OMIM:616198 HPO:skoehler 22.02.2015
+OMIM:616198 #616198 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23; COXPD23 HP:0001252 Muscular hypotonia IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > HYPOTONIA OMIM:616198 HPO:skoehler 22.02.2015
+OMIM:616198 #616198 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23; COXPD23 HP:0001263 Global developmental delay IEA IEA variable OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, VARIABLE OMIM:616198 HPO:skoehler 22.02.2015
+OMIM:616198 #616198 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23; COXPD23 HP:0001250 Seizures IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES (IN SOME PATIENTS) OMIM:616198 HPO:skoehler 22.02.2015
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616198.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616199.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616199.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616199.tab 2015-02-26 12:27:02 UTC (rev 5312)
@@ -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:616199 #616199 POLYGLUCOSAN BODY MYOPATHY 2; PGBM2 HP:0003202 Skeletal muscle atrophy IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE ATROPHY OMIM:616199 HPO:skoehler 22.02.2015
+OMIM:616199 #616199 POLYGLUCOSAN BODY MYOPATHY 2; PGBM2 HP:0002460 Distal muscle weakness IEA IEA rare OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, DISTAL (IN SOME PATIENTS) OMIM:616199 HPO:skoehler 22.02.2015
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616199.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616200.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616200.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616200.tab 2015-02-26 12:27:02 UTC (rev 5312)
@@ -0,0 +1,18 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:616200 #616200 RUIJS-AALFS SYNDROME; RJALS HP:0001402 Hepatocellular carcinoma IEA IEA OMIM-CS:ABDOMEN_LIVER > HEPATOCELLULAR CARCINOMA OMIM:616200 HPO:skoehler 22.02.2015
+OMIM:616200 #616200 RUIJS-AALFS SYNDROME; RJALS HP:0000767 Pectus excavatum IEA IEA MODIFIER:MILD;OMIM-CS:CHEST_EXTERNAL FEATURES > PECTUS EXCAVATUM, MILD OMIM:616200 HPO:skoehler 22.02.2015
+OMIM:616200 #616200 RUIJS-AALFS SYNDROME; RJALS HP:0200021 Down-sloping shoulders IEA IEA OMIM-CS:CHEST_RIBS, STERNUM, CLAVICLES, AND SCAPULAE > SLOPING SHOULDERS OMIM:616200 HPO:skoehler 22.02.2015
+OMIM:616200 #616200 RUIJS-AALFS SYNDROME; RJALS HP:0004322 Short stature IEA IEA OMIM-CS:GROWTH_HEIGHT > SHORT STATURE OMIM:616200 HPO:skoehler 22.02.2015
+OMIM:616200 #616200 RUIJS-AALFS SYNDROME; RJALS HP:0004325 Decreased body weight IEA IEA OMIM-CS:GROWTH_WEIGHT > LOW WEIGHT OMIM:616200 HPO:skoehler 22.02.2015
+OMIM:616200 #616200 RUIJS-AALFS SYNDROME; RJALS HP:0007787 Posterior subcapsular cataract IEA IEA MODIFIER:BILATERAL;OMIM-CS:HEAD AND NECK_EYES > POSTERIOR SUBCAPSULAR CATARACT, BILATERAL OMIM:616200 HPO:skoehler 22.02.2015
+OMIM:616200 #616200 RUIJS-AALFS SYNDROME; RJALS HP:0000347 Micrognathia IEA IEA OMIM-CS:HEAD AND NECK_FACE > MICROGNATHIA OMIM:616200 HPO:skoehler 22.02.2015
+OMIM:616200 #616200 RUIJS-AALFS SYNDROME; RJALS HP:0000325 Triangular face IEA IEA OMIM-CS:HEAD AND NECK_FACE > TRIANGULAR FACE OMIM:616200 HPO:skoehler 22.02.2015
+OMIM:616200 #616200 RUIJS-AALFS SYNDROME; RJALS HP:0002007 Frontal bossing IEA IEA OMIM-CS:HEAD AND NECK_HEAD > FRONTAL BOSSING OMIM:616200 HPO:skoehler 22.02.2015
+OMIM:616200 #616200 RUIJS-AALFS SYNDROME; RJALS HP:0000414 Bulbous nose IEA IEA OMIM-CS:HEAD AND NECK_NOSE > BULBOUS NOSE OMIM:616200 HPO:skoehler 22.02.2015
+OMIM:616200 #616200 RUIJS-AALFS SYNDROME; RJALS HP:0000426 Prominent nasal bridge IEA IEA OMIM-CS:HEAD AND NECK_NOSE > HIGH NASAL BRIDGE OMIM:616200 HPO:skoehler 22.02.2015
+OMIM:616200 #616200 RUIJS-AALFS SYNDROME; RJALS HP:0009125 Lipodystrophy IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > LIPODYSTROPHY OMIM:616200 HPO:skoehler 22.02.2015
+OMIM:616200 #616200 RUIJS-AALFS SYNDROME; RJALS HP:0003202 Skeletal muscle atrophy IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > MUSCULAR ATROPHY OMIM:616200 HPO:skoehler 22.02.2015
+OMIM:616200 #616200 RUIJS-AALFS SYNDROME; RJALS HP:0002750 Delayed skeletal maturation IEA IEA OMIM-CS:SKELETAL > DELAYED BONE AGE OMIM:616200 HPO:skoehler 22.02.2015
+OMIM:616200 #616200 RUIJS-AALFS SYNDROME; RJALS HP:0001763 Pes planus IEA IEA OMIM-CS:SKELETAL_FEET > PES PLANUS OMIM:616200 HPO:skoehler 22.02.2015
+OMIM:616200 #616200 RUIJS-AALFS SYNDROME; RJALS HP:0002987 Elbow flexion contracture IEA IEA OMIM-CS:SKELETAL_LIMBS > CONTRACTURES OF ELBOWS OMIM:616200 HPO:skoehler 22.02.2015
+OMIM:616200 #616200 RUIJS-AALFS SYNDROME; RJALS HP:0005659 Thoracic kyphoscoliosis IEA IEA OMIM-CS:SKELETAL_SPINE > THORACIC KYPHOSCOLIOSIS OMIM:616200 HPO:skoehler 22.02.2015
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616200.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616201.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616201.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616201.tab 2015-02-26 12:27:02 UTC (rev 5312)
@@ -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:616201 #616201 CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA; CAID HP:0005110 Atrial fibrillation IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > ATRIAL FIBRILLATION (RARE) OMIM:616201 HPO:skoehler 22.02.2015
+OMIM:616201 #616201 CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA; CAID HP:0004749 Atrial flutter IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > ATRIAL FLUTTER (IN SOME PATIENTS) OMIM:616201 HPO:skoehler 22.02.2015
+OMIM:616201 #616201 CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA; CAID HP:0001647 Bicuspid aortic valve IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > BICUSPID AORTIC VALVE (IN SOME PATIENTS) OMIM:616201 HPO:skoehler 22.02.2015
+OMIM:616201 #616201 CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA; CAID HP:0001662 Bradycardia IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > BRADYCARDIA OMIM:616201 HPO:skoehler 22.02.2015
+OMIM:616201 #616201 CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA; CAID HP:0001653 Mitral regurgitation IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > MITRAL REGURGITATION, MILD (IN SOME PATIENTS) OMIM:616201 HPO:skoehler 22.02.2015
+OMIM:616201 #616201 CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA; CAID HP:0001642 Pulmonic stenosis IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > PULMONARY VALVE STENOSIS (IN SOME PATIENTS) OMIM:616201 HPO:skoehler 22.02.2015
+OMIM:616201 #616201 CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA; CAID HP:0011704 Sick sinus syndrome IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > SICK SINUS SYNDROME OMIM:616201 HPO:skoehler 22.02.2015
+OMIM:616201 #616201 CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA; CAID HP:0001508 Failure to thrive IEA IEA OMIM-CS:GROWTH_OTHER > FAILURE TO THRIVE OMIM:616201 HPO:skoehler 22.02.2015
+OMIM:616201 #616201 CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA; CAID HP:0004325 Decreased body weight IEA IEA OMIM-CS:GROWTH_WEIGHT > LOW WEIGHT OMIM:616201 HPO:skoehler 22.02.2015
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616201.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616202.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616202.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616202.tab 2015-02-26 12:27:02 UTC (rev 5312)
@@ -0,0 +1,20 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:616202 #616202 CEREBELLOFACIODENTAL SYNDROME; CFDS;;CEREBELLAR-FACIAL-DENTAL SYNDROME HP:0004322 Short stature IEA IEA OMIM-CS:GROWTH_HEIGHT > SHORT STATURE OMIM:616202 HPO:skoehler 22.02.2015
+OMIM:616202 #616202 CEREBELLOFACIODENTAL SYNDROME; CFDS;;CEREBELLAR-FACIAL-DENTAL SYNDROME HP:0000369 Low-set ears IEA IEA OMIM-CS:HEAD AND NECK_EARS > LOW-SET EARS OMIM:616202 HPO:skoehler 22.02.2015
+OMIM:616202 #616202 CEREBELLOFACIODENTAL SYNDROME; CFDS;;CEREBELLAR-FACIAL-DENTAL SYNDROME HP:0000535 Sparse eyebrow IEA IEA OMIM-CS:HEAD AND NECK_EYES > SPARSE EYEBROWS OMIM:616202 HPO:skoehler 22.02.2015
+OMIM:616202 #616202 CEREBELLOFACIODENTAL SYNDROME; CFDS;;CEREBELLAR-FACIAL-DENTAL SYNDROME HP:0000252 Microcephaly IEA IEA OMIM-CS:HEAD AND NECK_HEAD > MICROCEPHALY (-2 TO -3 SD) OMIM:616202 HPO:skoehler 22.02.2015
+OMIM:616202 #616202 CEREBELLOFACIODENTAL SYNDROME; CFDS;;CEREBELLAR-FACIAL-DENTAL SYNDROME HP:0000470 Short neck IEA IEA OMIM-CS:HEAD AND NECK_NECK > SHORT NECK OMIM:616202 HPO:skoehler 22.02.2015
+OMIM:616202 #616202 CEREBELLOFACIODENTAL SYNDROME; CFDS;;CEREBELLAR-FACIAL-DENTAL SYNDROME HP:0000689 Dental malocclusion IEA IEA OMIM-CS:HEAD AND NECK_TEETH > DENTAL MALOCCLUSION OMIM:616202 HPO:skoehler 22.02.2015
+OMIM:616202 #616202 CEREBELLOFACIODENTAL SYNDROME; CFDS;;CEREBELLAR-FACIAL-DENTAL SYNDROME HP:0000675 Macrodontia of permanent maxillary central incisor IEA IEA OMIM-CS:HEAD AND NECK_TEETH > PROMINENT UPPER INCISORS OMIM:616202 HPO:skoehler 22.02.2015
+OMIM:616202 #616202 CEREBELLOFACIODENTAL SYNDROME; CFDS;;CEREBELLAR-FACIAL-DENTAL SYNDROME HP:0000679 Taurodontia IEA IEA OMIM-CS:HEAD AND NECK_TEETH > TAURODONTISM OMIM:616202 HPO:skoehler 22.02.2015
+OMIM:616202 #616202 CEREBELLOFACIODENTAL SYNDROME; CFDS;;CEREBELLAR-FACIAL-DENTAL SYNDROME HP:0001321 Cerebellar hypoplasia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR HYPOPLASIA OMIM:616202 HPO:skoehler 22.02.2015
+OMIM:616202 #616202 CEREBELLOFACIODENTAL SYNDROME; CFDS;;CEREBELLAR-FACIAL-DENTAL SYNDROME HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED DEVELOPMENT OMIM:616202 HPO:skoehler 22.02.2015
+OMIM:616202 #616202 CEREBELLOFACIODENTAL SYNDROME; CFDS;;CEREBELLAR-FACIAL-DENTAL SYNDROME HP:0001249 Intellectual disability IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTELLECTUAL DISABILITY OMIM:616202 HPO:skoehler 22.02.2015
+OMIM:616202 #616202 CEREBELLOFACIODENTAL SYNDROME; CFDS;;CEREBELLAR-FACIAL-DENTAL SYNDROME HP:0012110 Hypoplasia of the pons IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PONTINE HYPOPLASIA (1 FAMILY) OMIM:616202 HPO:skoehler 22.02.2015
+OMIM:616202 #616202 CEREBELLOFACIODENTAL SYNDROME; CFDS;;CEREBELLAR-FACIAL-DENTAL SYNDROME HP:0006511 Laryngeal stridor IEA IEA rare OMIM-CS:RESPIRATORY_LARYNX > LARYNGEAL STRIDOR (IN SOME PATIENTS) OMIM:616202 HPO:skoehler 22.02.2015
+OMIM:616202 #616202 CEREBELLOFACIODENTAL SYNDROME; CFDS;;CEREBELLAR-FACIAL-DENTAL SYNDROME HP:0001601 Laryngomalacia IEA IEA rare OMIM-CS:RESPIRATORY_LARYNX > LARYNGOMALACIA (IN SOME PATIENTS OMIM:616202 HPO:skoehler 22.02.2015
+OMIM:616202 #616202 CEREBELLOFACIODENTAL SYNDROME; CFDS;;CEREBELLAR-FACIAL-DENTAL SYNDROME HP:0001182 Tapered finger IEA IEA OMIM-CS:SKELETAL_HANDS > TAPERING FINGERS OMIM:616202 HPO:skoehler 22.02.2015
+OMIM:616202 #616202 CEREBELLOFACIODENTAL SYNDROME; CFDS;;CEREBELLAR-FACIAL-DENTAL SYNDROME HP:0003100 Slender long bone IEA IEA OMIM-CS:SKELETAL_LIMBS > SLENDER LONG BONES OMIM:616202 HPO:skoehler 22.02.2015
+OMIM:616202 #616202 CEREBELLOFACIODENTAL SYNDROME; CFDS;;CEREBELLAR-FACIAL-DENTAL SYNDROME HP:0002650 Scoliosis IEA IEA OMIM-CS:SKELETAL_SPINE > SCOLIOSIS OMIM:616202 HPO:skoehler 22.02.2015
+OMIM:616202 #616202 CEREBELLOFACIODENTAL SYNDROME; CFDS;;CEREBELLAR-FACIAL-DENTAL SYNDROME HP:0000535 Sparse eyebrow IEA IEA OMIM-CS:SKIN, NAILS, HAIR_HAIR > SPARSE EYEBROWS OMIM:616202 HPO:skoehler 22.02.2015
+OMIM:616202 #616202 CEREBELLOFACIODENTAL SYNDROME; CFDS;;CEREBELLAR-FACIAL-DENTAL SYNDROME HP:0008070 Sparse hair IEA IEA OMIM-CS:SKIN, NAILS, HAIR_HAIR > THIN HAIR OMIM:616202 HPO:skoehler 22.02.2015
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616202.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616204.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616204.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616204.tab 2015-02-26 12:27:02 UTC (rev 5312)
@@ -0,0 +1,20 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:616204 #616204 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18 HP:0000565 Esotropia IEA IEA OMIM-CS:HEAD AND NECK_EYES > ESOTROPIA OMIM:616204 HPO:skoehler 22.02.2015
+OMIM:616204 #616204 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18 HP:0000639 Nystagmus IEA IEA OMIM-CS:HEAD AND NECK_EYES > NYSTAGMUS OMIM:616204 HPO:skoehler 22.02.2015
+OMIM:616204 #616204 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18 HP:0000657 Oculomotor apraxia IEA IEA OMIM-CS:HEAD AND NECK_EYES > OCULOMOTOR APRAXIA OMIM:616204 HPO:skoehler 22.02.2015
+OMIM:616204 #616204 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18 HP:0000543 Optic disc pallor IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > PALE OPTIC DISCS (IN SOME PATIENTS) OMIM:616204 HPO:skoehler 22.02.2015
+OMIM:616204 #616204 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18 HP:0001252 Muscular hypotonia IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > HYPOTONIA OMIM:616204 HPO:skoehler 22.02.2015
+OMIM:616204 #616204 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18 HP:0001251 Ataxia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR ATAXIA OMIM:61620...
[truncated message content] |
|
From: <pr...@us...> - 2015-02-25 07:09:18
|
Revision: 5311
http://sourceforge.net/p/obo/svn/5311
Author: probins
Date: 2015-02-25 07:09:15 +0000 (Wed, 25 Feb 2015)
Log Message:
-----------
Removing 190920, it is a gene entry and there is no corresponding disease entry
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-190420.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-190430.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616126.tab
Removed Paths:
-------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-190920.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-190420.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-190420.tab 2015-02-23 07:17:49 UTC (rev 5310)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-190420.tab 2015-02-25 07:09:15 UTC (rev 5311)
@@ -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:190420 TRIGLYCERIDE STORAGE DISEASE, TYPE I HP:0000252 Microcephaly IEA IEA OMIM:190420 HPO 17.02.2009
-OMIM:190420 TRIGLYCERIDE STORAGE DISEASE, TYPE I HP:0001507 Growth abnormality IEA IEA OMIM:190420 HPO 17.02.2009
-OMIM:190420 TRIGLYCERIDE STORAGE DISEASE, TYPE I HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:190420 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:190420 TRIGLYCERIDE STORAGE DISEASE, TYPE I HP:0000252 Microcephaly TAS TAS OMIM:190420 HPO:probinson Feb 17, 2009
+OMIM:190420 TRIGLYCERIDE STORAGE DISEASE, TYPE I HP:0004325 Decreased body weight TAS TAS OMIM:190420 HPO:probinson Feb 17, 2009
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-190430.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-190430.tab 2015-02-23 07:17:49 UTC (rev 5310)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-190430.tab 2015-02-25 07:09:15 UTC (rev 5311)
@@ -1,3 +1,3 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:190430 TRIGLYCERIDE STORAGE DISEASE, TYPE II HP:0001513 Obesity IEA IEA OMIM:190430 HPO 17.02.2009
-OMIM:190430 TRIGLYCERIDE STORAGE DISEASE, TYPE II HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:190430 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:190430 TRIGLYCERIDE STORAGE DISEASE, TYPE II HP:0001513 Obesity TAS TAS OMIM:190430 HPO:probinson Feb 17, 2009
+OMIM:190430 TRIGLYCERIDE STORAGE DISEASE, TYPE II HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:190430 HPO:probinson Feb 25, 2015
Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-190920.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-190920.tab 2015-02-23 07:17:49 UTC (rev 5310)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-190920.tab 2015-02-25 07:09:15 UTC (rev 5311)
@@ -1,4 +0,0 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:190920 TROPHOBLAST GLYCOPROTEIN HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:190920 HPO 17.02.2009
-OMIM:190920 TROPHOBLAST GLYCOPROTEIN HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:190920 HPO 17.02.2009
-OMIM:190920 TROPHOBLAST GLYCOPROTEIN HP:0002664 Neoplasm IEA IEA OMIM:190920 HPO 17.02.2009
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616126.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616126.tab 2015-02-23 07:17:49 UTC (rev 5310)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616126.tab 2015-02-25 07:09:15 UTC (rev 5311)
@@ -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:616126 #616126 IMMUNODEFICIENCY 38; IMD38;;IMMUNODEFICIENCY 38, MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE;;ISG15 DEFICIENCY, AUTOSOMAL RECESSIVE HP:0005364 Severe viral infections IEA IEA NOT NOT OMIM-CS:IMMUNOLOGY > NO SEVERE VIRAL INFECTIONS OMIM:616126 HPO:skoehler 04.01.2015
+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:616126 #616126 IMMUNODEFICIENCY 38; IMD38;;IMMUNODEFICIENCY 38, MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE;;ISG15 DEFICIENCY, AUTOSOMAL RECESSIVE HP:0005364 Severe viral infections TAS TAS NOT NOT OMIM-CS:IMMUNOLOGY > NO SEVERE VIRAL INFECTIONS OMIM:616126 HPO:skoehler Jan 4, 2015
+OMIM:616126 #616126 IMMUNODEFICIENCY 38; IMD38;;IMMUNODEFICIENCY 38, MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE;;ISG15 DEFICIENCY, AUTOSOMAL RECESSIVE HP:0000007 Autosomal recessive inheritance TAS TAS OMIM-CS:IMMUNOLOGY > NO SEVERE VIRAL INFECTIONS OMIM:616126 HPO:probinson Feb 25, 2015
+OMIM:616126 #616126 IMMUNODEFICIENCY 38; IMD38;;IMMUNODEFICIENCY 38, MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE;;ISG15 DEFICIENCY, AUTOSOMAL RECESSIVE HP:0011274 Recurrent mycobacterial infections TAS TAS OMIM-CS:IMMUNOLOGY > NO SEVERE VIRAL INFECTIONS OMIM:616126 HPO:probinson Feb 25, 2015
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From: <pr...@us...> - 2015-02-23 07:18:00
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Revision: 5310
http://sourceforge.net/p/obo/svn/5310
Author: probins
Date: 2015-02-23 07:17:49 +0000 (Mon, 23 Feb 2015)
Log Message:
-----------
Revising annotations
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-223800.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-226980.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-242900.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-271665.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608728.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-223800.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-223800.tab 2015-02-22 18:04:26 UTC (rev 5309)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-223800.tab 2015-02-23 07:17:49 UTC (rev 5310)
@@ -1,42 +1,40 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:223800 HPO 17.02.2009
-OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0000252 Microcephaly IEA IEA OMIM:223800 HPO 17.02.2009
-OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0000280 Coarse facial features IEA IEA OMIM:223800 HPO 17.02.2009
-OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0000303 Mandibular prognathia IEA IEA OMIM:223800 HPO 17.02.2009
-OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0000470 Short neck IEA IEA OMIM:223800 HPO 17.02.2009
-OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0000884 Prominent sternum IEA IEA OMIM:223800 HPO 17.02.2009
-OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0000906 Short scapulae IEA IEA OMIM:223800 HPO 17.02.2009
-OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0000911 Flat glenoid fossa IEA IEA OMIM:223800 HPO 17.02.2009
-OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0000920 Enlargement of the costochondral junction IEA IEA OMIM:223800 HPO 17.02.2009
-OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0000926 Platyspondyly IEA IEA OMIM:223800 HPO 17.02.2009
-OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0001169 Broad palm IEA IEA OMIM:223800 HPO 17.02.2009
-OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0001263 Global developmental delay IEA IEA OMIM:223800 HPO 17.02.2009
-OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0001498 Carpal bone hypoplasia IEA IEA OMIM:223800 HPO 17.02.2009
-OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0001552 Barrel-shaped chest IEA IEA OMIM:223800 HPO 17.02.2009
-OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0001769 Broad foot IEA IEA OMIM:223800 HPO 17.02.2009
-OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0002515 Waddling gait IEA IEA OMIM:223800 HPO 17.02.2009
-OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0002650 Scoliosis IEA IEA OMIM:223800 HPO 17.02.2009
-OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0002681 Deformed sella turcica IEA IEA OMIM:223800 HPO 17.02.2009
-OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0002684 Thickened calvaria IEA IEA OMIM:223800 HPO 17.02.2009
-OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0002692 Hypoplastic facial bones IEA IEA OMIM:223800 HPO 17.02.2009
-OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0002857 Genu valgum IEA IEA OMIM:223800 HPO 17.02.2009
-OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0002866 Hypoplastic iliac wings IEA IEA OMIM:223800 HPO 17.02.2009
-OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0002938 Lumbar hyperlordosis IEA IEA OMIM:223800 HPO 17.02.2009
-OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0002942 Thoracic kyphosis IEA IEA OMIM:223800 HPO 17.02.2009
-OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0002968 Rhizomelic shortening IEA IEA OMIM:223800 HPO 17.02.2009
-OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0003180 Flat acetabular roofs IEA IEA OMIM:223800 HPO 17.02.2009
-OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0003183 Wide pubic symphysis IEA IEA OMIM:223800 HPO 17.02.2009
-OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0003311 Hypoplasia of the odontoid process IEA IEA OMIM:223800 HPO 17.02.2009
-OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0003375 Narrow greater sacrosciatic notches IEA IEA OMIM:223800 HPO 17.02.2009
-OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0003521 Disproportionate short-trunk short stature IEA IEA OMIM:223800 HPO 17.02.2009
-OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0004568 Beaking of vertebral bodies IEA IEA OMIM:223800 HPO 17.02.2009
-OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0004997 Multicentric ossification of proximal humeral epiphyses IEA IEA OMIM:223800 HPO 17.02.2009
-OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0006450 Multicentric ossification of proximal femoral epiphyses IEA IEA OMIM:223800 HPO 17.02.2009
-OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0008786 Irregular, lacy iliac crests IEA IEA OMIM:223800 HPO 17.02.2009
-OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0009473 Joint contractures involving the joints of the hand IEA IEA OMIM:223800 HPO 17.02.2009
-OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0010049 Short metacarpal IEA IEA OMIM:223800 HPO 17.02.2009
-OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0010230 Cone-shaped epiphyses of the phalanges of the hand IEA IEA OMIM:223800 HPO 17.02.2009
-OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0010743 Short metatarsal bone IEA IEA OMIM:223800 HPO 17.02.2009
-OMIM:223800 #223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC HP:0008897 Postnatal growth retardation IEA IEA OMIM-CS:GROWTH_OTHER > POSTNATAL GROWTH RETARDATION OMIM:223800 HPO:skoehler 17.10.2012
-OMIM:223800 #223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC HP:0012385 Camptodactyly IEA IEA OMIM-CS:SKELETAL_HANDS > CAMPTODACTYLY OMIM:223800 HPO:skoehler 22.10.2013
-OMIM:223800 #223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC HP:0000914 Shield chest IEA IEA OMIM-CS:CHEST_EXTERNAL FEATURES > BROAD CHEST OMIM:223800 HPO:skoehler 24.06.2014
+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:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:223800 HPO:probinson Feb 17, 2009
+OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0000252 Microcephaly TAS TAS OMIM:223800 HPO:probinson Feb 17, 2009
+OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0000280 Coarse facial features TAS TAS OMIM:223800 HPO:probinson Feb 17, 2009
+OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0000303 Mandibular prognathia TAS TAS OMIM:223800 HPO:probinson Feb 17, 2009
+OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0000470 Short neck TAS TAS OMIM:223800 HPO:probinson Feb 17, 2009
+OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0000884 Prominent sternum TAS TAS OMIM:223800 HPO:probinson Feb 17, 2009
+OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0000906 Short scapulae TAS TAS OMIM:223800 HPO:probinson Feb 17, 2009
+OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0000911 Flat glenoid fossa TAS TAS OMIM:223800 HPO:probinson Feb 17, 2009
+OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0000920 Enlargement of the costochondral junction TAS TAS OMIM:223800 HPO:probinson Feb 17, 2009
+OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0000926 Platyspondyly TAS TAS OMIM:223800 HPO:probinson Feb 17, 2009
+OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0001169 Broad palm TAS TAS OMIM:223800 HPO:probinson Feb 17, 2009
+OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0001498 Carpal bone hypoplasia TAS TAS OMIM:223800 HPO:probinson Feb 17, 2009
+OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0001769 Broad foot TAS TAS OMIM:223800 HPO:probinson Feb 17, 2009
+OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0002515 Waddling gait TAS TAS OMIM:223800 HPO:probinson Feb 17, 2009
+OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0002650 Scoliosis TAS TAS OMIM:223800 HPO:probinson Feb 17, 2009
+OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0002681 Deformed sella turcica TAS TAS OMIM:223800 HPO:probinson Feb 17, 2009
+OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0002684 Thickened calvaria TAS TAS OMIM:223800 HPO:probinson Feb 17, 2009
+OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0002692 Hypoplastic facial bones TAS TAS OMIM:223800 HPO:probinson Feb 17, 2009
+OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0001552 Barrel-shaped chest TAS TAS OMIM:223800 HPO:probinson Feb 17, 2009
+OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0002866 Hypoplastic iliac wing TAS TAS OMIM:223800 HPO:probinson Feb 17, 2009
+OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0002938 Lumbar hyperlordosis TAS TAS OMIM:223800 HPO:probinson Feb 17, 2009
+OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0002942 Thoracic kyphosis TAS TAS OMIM:223800 HPO:probinson Feb 17, 2009
+OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0002968 Rhizomelic shortening TAS TAS OMIM:223800 HPO:probinson Feb 17, 2009
+OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0003180 Flat acetabular roof TAS TAS OMIM:223800 HPO:probinson Feb 17, 2009
+OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0003183 Wide pubic symphysis TAS TAS OMIM:223800 HPO:probinson Feb 17, 2009
+OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0003311 Hypoplasia of the odontoid process TAS TAS OMIM:223800 HPO:probinson Feb 17, 2009
+OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0003375 Narrow greater sacrosciatic notches TAS TAS OMIM:223800 HPO:probinson Feb 17, 2009
+OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0003521 Disproportionate short-trunk short stature TAS TAS OMIM:223800 HPO:probinson Feb 17, 2009
+OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0004568 Beaking of vertebral bodies TAS TAS OMIM:223800 HPO:probinson Feb 17, 2009
+OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0004997 Multicentric ossification of proximal humeral epiphyses TAS TAS OMIM:223800 HPO:probinson Feb 17, 2009
+OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0006450 Multicentric ossification of proximal femoral epiphyses TAS TAS OMIM:223800 HPO:probinson Feb 17, 2009
+OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0008786 Iliac crest serration TAS TAS OMIM:223800 HPO:probinson Feb 17, 2009
+OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0010049 Short metacarpal TAS TAS OMIM:223800 HPO:probinson Feb 17, 2009
+OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0010230 Cone-shaped epiphyses of the phalanges of the hand TAS TAS OMIM:223800 HPO:probinson Feb 17, 2009
+OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0010743 Short metatarsal TAS TAS OMIM:223800 HPO:probinson Feb 17, 2009
+OMIM:223800 #223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC HP:0008897 Postnatal growth retardation TAS TAS OMIM-CS:GROWTH_OTHER > POSTNATAL GROWTH RETARDATION OMIM:223800 HPO:skoehler Oct 17, 2012
+OMIM:223800 #223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC HP:0012385 Camptodactyly TAS TAS OMIM-CS:SKELETAL_HANDS > CAMPTODACTYLY OMIM:223800 HPO:skoehler Oct 22, 2013
+OMIM:223800 #223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC HP:0000914 Shield chest TAS TAS OMIM-CS:CHEST_EXTERNAL FEATURES > BROAD CHEST OMIM:223800 HPO:skoehler Jun 24, 2014
+OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE HP:0011344 Severe global developmental delay TAS TAS OMIM:223800 HPO:probinson Feb 23, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-226980.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-226980.tab 2015-02-22 18:04:26 UTC (rev 5309)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-226980.tab 2015-02-23 07:17:49 UTC (rev 5310)
@@ -1,38 +1,38 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:226980 HPO Feb 17, 2009
-OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0000083 Renal insufficiency IEA IEA OMIM:226980 HPO Feb 17, 2009
-OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0000156 High-arched palate IEA IEA OMIM:226980 HPO Feb 17, 2009
-OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0000252 Microcephaly IEA IEA OMIM:226980 HPO Feb 17, 2009
-OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0000316 Hypertelorism IEA IEA OMIM:226980 HPO Feb 17, 2009
-OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0000425 Flattened nasal bridge IEA IEA OMIM:226980 HPO Feb 17, 2009
-OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0000582 Upslanted palpebral fissure IEA IEA OMIM:226980 HPO Feb 17, 2009
-OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0000819 Diabetes mellitus IEA IEA OMIM:226980 HPO Feb 17, 2009
-OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0000926 Platyspondyly IEA IEA OMIM:226980 HPO Feb 17, 2009
-OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0000939 Osteoporosis IEA IEA OMIM:226980 HPO Feb 17, 2009
-OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0001263 Global developmental delay IEA IEA OMIM:226980 HPO Feb 17, 2009
-OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0001276 Hypertonia IEA IEA OMIM:226980 HPO Feb 17, 2009
-OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0001552 Barrel-shaped chest IEA IEA OMIM:226980 HPO Feb 17, 2009
-OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0002240 Hepatomegaly IEA IEA OMIM:226980 HPO Feb 17, 2009
-OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0002654 Multiple epiphyseal dysplasia IEA IEA OMIM:226980 HPO Feb 17, 2009
+OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:226980 HPO:probinson Feb 17, 2009
+OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0000083 Renal insufficiency TAS TAS OMIM:226980 HPO:probinson Feb 17, 2009
+OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0000156 High-arched palate TAS TAS OMIM:226980 HPO:probinson Feb 17, 2009
+OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0000252 Microcephaly TAS TAS OMIM:226980 HPO:probinson Feb 17, 2009
+OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0000316 Hypertelorism TAS TAS OMIM:226980 HPO:probinson Feb 17, 2009
+OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0005280 Depressed nasal bridge TAS TAS OMIM:226980 HPO:probinson Feb 17, 2009
+OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0000582 Upslanted palpebral fissure TAS TAS OMIM:226980 HPO:probinson Feb 17, 2009
+OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0000926 Platyspondyly TAS TAS OMIM:226980 HPO:probinson Feb 17, 2009
+OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0000939 Osteoporosis TAS TAS OMIM:226980 HPO:probinson Feb 17, 2009
+OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0001263 Global developmental delay TAS TAS OMIM:226980 HPO:probinson Feb 17, 2009
+OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0001276 Hypertonia TAS TAS OMIM:226980 HPO:probinson Feb 17, 2009
+OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0001552 Barrel-shaped chest TAS TAS OMIM:226980 HPO:probinson Feb 17, 2009
+OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0002240 Hepatomegaly TAS TAS OMIM:226980 HPO:probinson Feb 17, 2009
+OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0002654 Multiple epiphyseal dysplasia TAS TAS OMIM:226980 HPO:probinson Feb 17, 2009
OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0002656 Epiphyseal dysplasia TAS TAS OMIM:226980 HPO:probinson Feb 17, 2009
-OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0002673 Coxa valga IEA IEA OMIM:226980 HPO Feb 17, 2009
-OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0002827 Hip dislocation IEA IEA OMIM:226980 HPO Feb 17, 2009
-OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0002857 Genu valgum IEA IEA OMIM:226980 HPO Feb 17, 2009
-OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0002868 Narrow iliac wings IEA IEA OMIM:226980 HPO Feb 17, 2009
-OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0010583 Ivory epiphyses IEA IEA OMIM:226980 HPO:skoehler Apr 8, 2013
-OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0003301 Irregular vertebral endplates IEA IEA OMIM:226980 HPO Feb 17, 2009
-OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0003311 Hypoplasia of the odontoid process IEA IEA OMIM:226980 HPO Feb 17, 2009
+OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0002673 Coxa valga TAS TAS OMIM:226980 HPO:probinson Feb 17, 2009
+OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0002827 Hip dislocation TAS TAS OMIM:226980 HPO:probinson Feb 17, 2009
+OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0002857 Genu valgum TAS TAS OMIM:226980 HPO:probinson Feb 17, 2009
+OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0002868 Narrow iliac wings TAS TAS OMIM:226980 HPO:probinson Feb 17, 2009
+OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0003301 Irregular vertebral endplates TAS TAS OMIM:226980 HPO:probinson Feb 17, 2009
+OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0003311 Hypoplasia of the odontoid process TAS TAS OMIM:226980 HPO:probinson Feb 17, 2009
OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0003593 Infantile onset TAS TAS OMIM:226980 HPO:probinson Feb 17, 2009
-OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0004322 Short stature IEA IEA OMIM:226980 HPO Feb 17, 2009
-OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0004467 Preauricular pit IEA IEA OMIM:226980 HPO Feb 17, 2009
-OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0006274 Reduced pancreatic beta cells IEA IEA OMIM:226980 HPO Feb 17, 2009
-OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0008134 Irregular tarsal ossification IEA IEA OMIM:226980 HPO Feb 17, 2009
-OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0010230 Cone-shaped epiphyses of the phalanges of the hand IEA IEA OMIM:226980 HPO Feb 17, 2009
-OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0010583 Ivory epiphyses IEA IEA OMIM:226980 HPO:skoehler Jun 18, 2010
+OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0004322 Short stature TAS TAS OMIM:226980 HPO:probinson Feb 17, 2009
+OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0004467 Preauricular pit TAS TAS OMIM:226980 HPO:probinson Feb 17, 2009
+OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0006274 Reduced pancreatic beta cells TAS TAS OMIM:226980 HPO:probinson Feb 17, 2009
+OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0008134 Irregular tarsal ossification TAS TAS OMIM:226980 HPO:probinson Feb 17, 2009
+OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0010230 Cone-shaped epiphyses of the phalanges of the hand TAS TAS OMIM:226980 HPO:probinson Feb 17, 2009
OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0001498 Carpal bone hypoplasia TAS TAS OMIM:226980 HPO:skoehler May 5, 2012
OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0004236 Irregular carpal bones TAS TAS OMIM:226980 HPO:skoehler May 5, 2012
OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0006110 Shortening of all middle phalanges of the fingers TAS TAS OMIM:226980 HPO:probinson Jun 9, 2012
OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0003071 Flattened epiphyses TAS TAS OMIM:226980 HPO:probinson Apr 8, 2013
OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0010585 Small epiphyses TAS TAS OMIM:226980 HPO:probinson Apr 8, 2013
OMIM:226980 #226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS;;MED-IDDM SYNDROME;;IDDM-MED SYNDROME;;WOLCOTT-RALLISON SYNDROME HP:0003307 Hyperlordosis TAS TAS OMIM:226980 HPO:skoehler Apr 18, 2013
-OMIM:226980 #226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS;;MED-IDDM SYNDROME;;IDDM-MED SYNDROME;;WOLCOTT-RALLISON SYNDROME HP:0030043 Hip Subluxation IEA IEA OMIM-CS:SKELETAL_PELVIS > HIP SUBLUXATION OMIM:226980 HPO:skoehler 20.01.2015
+OMIM:226980 #226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS;;MED-IDDM SYNDROME;;IDDM-MED SYNDROME;;WOLCOTT-RALLISON SYNDROME HP:0030043 Hip Subluxation TAS TAS OMIM-CS:SKELETAL_PELVIS > HIP SUBLUXATION OMIM:226980 HPO:skoehler Jan 20, 2015
+OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0000831 Insulin-resistant diabetes mellitus TAS TAS OMIM:226980 HPO:probinson Feb 23, 2015
+OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0010234 Ivory epiphyses of the phalanges of the hand TAS TAS OMIM:226980 HPO:skoehler Feb 23, 2015
+OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS HP:0010168 Ivory epiphyses of the toes TAS TAS OMIM:226980 HPO:skoehler Feb 23, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-242900.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-242900.tab 2015-02-22 18:04:26 UTC (rev 5309)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-242900.tab 2015-02-23 07:17:49 UTC (rev 5310)
@@ -1,45 +1,44 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0000083 Renal insufficiency IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0000093 Proteinuria IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0000097 Focal segmental glomerulosclerosis IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0000100 Nephrotic syndrome IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0000425 Flattened nasal bridge IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0000443 Bulbous nasal tip IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0000470 Short neck IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0000483 Astigmatism IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0000545 Myopia IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0000691 Microdontia IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0000822 Hypertension IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0000926 Platyspondyly IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0000938 Osteopenia IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0001034 Hypermelanotic macule IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0001270 Motor delay IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0001511 Intrauterine growth retardation IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0001620 High pitched voice IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0001873 Thrombocytopenia IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0001875 Neutropenia IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0001888 Lymphopenia IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0001903 Anemia IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0002208 Coarse hair IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0002213 Fine hair IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0002326 Transient ischemic attack IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0002515 Waddling gait IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0002634 Arteriosclerosis IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0002637 Cerebral ischemia TAS TAS OMIM:242900 HPO:probinson 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0002655 Spondyloepiphyseal dysplasia IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0002719 Recurrent infections IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0002843 Abnormality of T cells IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0002925 Thyroid-stimulating hormone excess IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0002938 Lumbar hyperlordosis IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0002942 Thoracic kyphosis IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0003090 Hypoplasia of the capital femoral epiphysis IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0003182 Shallow acetabular fossae IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0003300 Ovoid vertebral bodies IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0003521 Disproportionate short-trunk short stature IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0004298 Abnormality of the abdominal wall IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0006453 Lateral displacement of the femoral head IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0007759 Opacification of the corneal stroma IEA IEA OMIM:242900 HPO 17.02.2009
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0010701 Abnormal immunoglobulin level IEA IEA OMIM:242900 HPO:skoehler 20.06.2010
-OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0002326 Transient ischemic attack TAS TAS OMIM:242900 HPO:probinson 28.07.2012
-OMIM:242900 #242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE;;SCHIMKE IMMUNOOSSEOUS DYSPLASIA; SIOD HP:0001249 Intellectual disability IEA IEA NOT NOT OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > NORMAL INTELLIGENCE OMIM:242900 HPO:skoehler 26.11.2014
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:242900 HPO Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0000083 Renal insufficiency TAS TAS OMIM:242900 HPO Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0000093 Proteinuria TAS TAS OMIM:242900 HPO Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0000097 Focal segmental glomerulosclerosis TAS TAS OMIM:242900 HPO Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0000100 Nephrotic syndrome TAS TAS OMIM:242900 HPO Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0000425 Flattened nasal bridge TAS TAS OMIM:242900 HPO Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0000443 Bulbous nasal tip TAS TAS OMIM:242900 HPO Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0000470 Short neck TAS TAS OMIM:242900 HPO Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0000483 Astigmatism TAS TAS OMIM:242900 HPO Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0000545 Myopia TAS TAS OMIM:242900 HPO Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0000691 Microdontia TAS TAS OMIM:242900 HPO:probinson Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0000822 Hypertension TAS TAS OMIM:242900 HPO:probinson Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0000926 Platyspondyly TAS TAS OMIM:242900 HPO:probinson Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0000938 Osteopenia TAS TAS OMIM:242900 HPO:probinson Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0001034 Hypermelanotic macule TAS TAS OMIM:242900 HPO:probinson Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0001270 Motor delay TAS TAS OMIM:242900 HPO:probinson Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0001511 Intrauterine growth retardation TAS TAS 50% OMIM:242900 HPO:probinson Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0001620 High pitched voice TAS TAS OMIM:242900 HPO:probinson Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0001873 Thrombocytopenia TAS TAS OMIM:242900 HPO:probinson Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0001875 Neutropenia TAS TAS OMIM:242900 HPO:probinson Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0001888 Lymphopenia TAS TAS OMIM:242900 HPO:probinson Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0001903 Anemia TAS TAS OMIM:242900 HPO:probinson Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0002208 Coarse hair TAS TAS OMIM:242900 HPO:probinson Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0002213 Fine hair TAS TAS OMIM:242900 HPO:probinson Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0002326 Transient ischemic attack TAS TAS OMIM:242900 HPO:probinson Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0002515 Waddling gait TAS TAS OMIM:242900 HPO:probinson Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0002634 Arteriosclerosis TAS TAS OMIM:242900 HPO:probinson Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0002637 Cerebral ischemia TAS TAS OMIM:242900 HPO:probinson Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0002655 Spondyloepiphyseal dysplasia TAS TAS OMIM:242900 HPO:probinson Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0002719 Recurrent infections TAS TAS OMIM:242900 HPO:probinson Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0002843 Abnormality of T cells TAS TAS OMIM:242900 HPO:probinson Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0002925 Thyroid-stimulating hormone excess TAS TAS OMIM:242900 HPO:probinson Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0002938 Lumbar hyperlordosis TAS TAS OMIM:242900 HPO:probinson Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0002942 Thoracic kyphosis TAS TAS OMIM:242900 HPO:probinson Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0003090 Hypoplasia of the capital femoral epiphysis TAS TAS OMIM:242900 HPO:probinson Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0003182 Shallow acetabular fossae TAS TAS OMIM:242900 HPO:probinson Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0003300 Ovoid vertebral bodies TAS TAS OMIM:242900 HPO:probinson Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0003521 Disproportionate short-trunk short stature TAS TAS OMIM:242900 HPO:probinson Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0006453 Lateral displacement of the femoral head TAS TAS OMIM:242900 HPO:probinson Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0007759 Opacification of the corneal stroma TAS TAS OMIM:242900 HPO:probinson Feb 17, 2009
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0010701 Abnormal immunoglobulin level TAS TAS OMIM:242900 HPO:skoehler Jun 20, 2010
+OMIM:242900 #242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE;;SCHIMKE IMMUNOOSSEOUS DYSPLASIA; SIOD HP:0001249 Intellectual disability TAS TAS NOT NOT OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > NORMAL INTELLIGENCE OMIM:242900 HPO:skoehler Nov 26, 2014
+OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE HP:0001538 Protuberant abdomen TAS TAS OMIM:242900 HPO:probinson Feb 23, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-271665.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-271665.tab 2015-02-22 18:04:26 UTC (rev 5309)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-271665.tab 2015-02-23 07:17:49 UTC (rev 5310)
@@ -1,46 +1,46 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:271665 HPO Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0000156 High-arched palate IEA IEA OMIM:271665 HPO Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0000272 Malar flattening IEA IEA OMIM:271665 HPO Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0000316 Hypertelorism IEA IEA OMIM:271665 HPO Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0000347 Micrognathia IEA IEA OMIM:271665 HPO Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0000425 Flattened nasal bridge IEA IEA OMIM:271665 HPO Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0000464 Abnormality of the neck IEA IEA OMIM:271665 HPO Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0000520 Proptosis IEA IEA OMIM:271665 HPO Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0000767 Pectus excavatum IEA IEA OMIM:271665 HPO Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0000773 Short ribs IEA IEA OMIM:271665 HPO Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0000907 Anterior rib cupping IEA IEA OMIM:271665 HPO Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0000922 Posterior rib cupping IEA IEA OMIM:271665 HPO Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0000926 Platyspondyly IEA IEA OMIM:271665 HPO Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0001252 Muscular hypotonia IEA IEA OMIM:271665 HPO Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0001263 Global developmental delay IEA IEA OMIM:271665 HPO Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0001591 Bell-shaped chest IEA IEA OMIM:271665 HPO Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0001840 Metatarsus adductus IEA IEA OMIM:271665 HPO Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0002007 Frontal bossing IEA IEA OMIM:271665 HPO Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0002091 Restrictive lung disease IEA IEA OMIM:271665 HPO Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0002176 Spinal cord compression IEA IEA OMIM:271665 HPO Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0002650 Scoliosis IEA IEA OMIM:271665 HPO Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0002651 Spondyloepimetaphyseal dysplasia IEA IEA OMIM:271665 HPO Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0002787 Tracheal ectopic calcification TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0002827 Hip dislocation IEA IEA OMIM:271665 HPO Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0002869 Flared iliac wings IEA IEA OMIM:271665 HPO Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0002978 Knee contractures IEA IEA OMIM:271665 HPO Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0002987 Elbow flexion contracture IEA IEA OMIM:271665 HPO Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0003015 Flared metaphyses IEA IEA OMIM:271665 HPO Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0003085 Disproportionately long fibulae IEA IEA OMIM:271665 HPO Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0003196 Short nose IEA IEA OMIM:271665 HPO Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0003311 Hypoplasia of the odontoid process IEA IEA OMIM:271665 HPO Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0003320 C1-C2 subluxation IEA IEA OMIM:271665 HPO Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0003396 Syringomyelia IEA IEA OMIM:271665 HPO Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0003467 Atlantoaxial instability IEA IEA OMIM:271665 HPO Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0005257 Thoracic hypoplasia IEA IEA OMIM:271665 HPO Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0005462 Calcification of falx cerebri IEA IEA OMIM:271665 HPO Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0000156 High-arched palate TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0000272 Malar flattening TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0000316 Hypertelorism TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0000347 Micrognathia TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0000425 Flattened nasal bridge TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0000464 Abnormality of the neck IEA IEA OMIM:271665 HPO:probinson Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0000520 Proptosis TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0000767 Pectus excavatum TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0000773 Short ribs TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0000907 Anterior rib cupping TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0000922 Posterior rib cupping TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0000926 Platyspondyly TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0001252 Muscular hypotonia TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0001263 Global developmental delay TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0001591 Bell-shaped thorax TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0001840 Metatarsus adductus TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0002007 Frontal bossing TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0002091 Restrictive lung disease TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0002176 Spinal cord compression TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0002650 Scoliosis TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0002651 Spondyloepimetaphyseal dysplasia TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0002787 Tracheal calcification TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0030043 Hip Subluxation TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0002869 Flared iliac wings TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0002978 Knee contractures TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0002987 Elbow flexion contracture TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0003015 Flared metaphyses TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0003085 Long fibula TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0003196 Short nose TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0003311 Hypoplasia of the odontoid process TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0003320 C1-C2 subluxation TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0003396 Syringomyelia TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0003467 Atlantoaxial instability TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0005257 Thoracic hypoplasia TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0005462 Calcification of falx cerebri TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0006009 Broad phalanx TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0006600 Progressive calcification of costochondral cartilage IEA IEA OMIM:271665 HPO Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0008873 Disproportionate short-limb short stature IEA IEA OMIM:271665 HPO Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0009164 Abnormal calcification of the carpal bones IEA IEA OMIM:271665 HPO Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0009875 Triangular shaped distal phalanges of the hand IEA IEA OMIM:271665 HPO Feb 17, 2009
-OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0010655 Epiphyseal stippling IEA IEA OMIM:271665 HPO Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0006600 Progressive calcification of costochondral cartilage TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0008873 Disproportionate short-limb short stature TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0009164 Abnormal calcification of the carpal bones TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0009875 Triangular shaped distal phalanges of the hand TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0010655 Epiphyseal stippling TAS TAS OMIM:271665 HPO:probinson Feb 17, 2009
OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0006532 Recurrent pneumonia TAS TAS OMIM:271665 HPO:probinson May 8, 2012
OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0003026 Short long bones TAS TAS OMIM:271665 HPO:probinson May 8, 2012
OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0005622 Broad long bones TAS TAS OMIM:271665 HPO:probinson May 8, 2012
@@ -49,4 +49,5 @@
OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0009803 Short phalanx of finger TAS TAS OMIM:271665 HPO:probinson Jun 3, 2012
OMIM:271665 #271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE;;SMED-SL;;SMED, SHORT LIMB-HAND TYPE;;SMED, TYPE II;;SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-ABNORMAL CALCIFICATIONTYPE;;SMED, SHORT LIMB-ABNORMAL CALCIFICATION TYPE;;SMED-SL/AC HP:0005753 Limb shortening TAS TAS OMIM:271665 HPO:skoehler Oct 17, 2012
OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0006009 Broad phalanx TAS TAS OMIM:271665 HPO:probinson Apr 7, 2013
-OMIM:271665 #271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE;;SMED-SL;;SMED, SHORT LIMB-HAND TYPE;;SMED, TYPE II;;SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-ABNORMAL CALCIFICATIONTYPE;;SMED, SHORT LIMB-ABNORMAL CALCIFICATION TYPE;;SMED-SL/AC HP:0030043 Hip Subluxation IEA IEA OMIM-CS:SKELETAL_PELVIS > HIP SUBLUXATION OMIM:271665 HPO:skoehler 20.01.2015
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0002979 Bowing of the legs TAS TAS OMIM:271665 HPO:probinson Feb 23, 2015
+OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0006009 Broad phalanx TAS TAS OMIM:271665 HPO:probinson Feb 23, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608728.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608728.tab 2015-02-22 18:04:26 UTC (rev 5309)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608728.tab 2015-02-23 07:17:49 UTC (rev 5310)
@@ -1,22 +1,22 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:608728 HPO 17.02.2009
-OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0000922 Posterior rib cupping IEA IEA OMIM:608728 HPO 17.02.2009
-OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0001377 Limited elbow extension IEA IEA OMIM:608728 HPO 17.02.2009
-OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0002515 Waddling gait IEA IEA OMIM:608728 HPO 17.02.2009
-OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0002651 Spondyloepimetaphyseal dysplasia TAS TAS OMIM:608728 HPO:probinson 17.02.2009
-OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0002868 Narrow iliac wings IEA IEA OMIM:608728 HPO 17.02.2009
-OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0002938 Lumbar hyperlordosis IEA IEA OMIM:608728 HPO 17.02.2009
-OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0002979 Bowing of the legs IEA IEA OMIM:608728 HPO 17.02.2009
-OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0003026 Short long bones IEA IEA OMIM:608728 HPO 17.02.2009
-OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0003173 Hypoplastic pubic bones IEA IEA OMIM:608728 HPO 17.02.2009
-OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0003180 Flat acetabular roof IEA IEA OMIM:608728 HPO 17.02.2009
-OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0005257 Thoracic hypoplasia IEA IEA OMIM:608728 HPO 17.02.2009
-OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0008794 Dysplastic iliac wings IEA IEA OMIM:608728 HPO 17.02.2009
-OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0008873 Disproportionate short-limb short stature IEA IEA OMIM:608728 HPO 17.02.2009
-OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0003016 Metaphyseal widening TAS TAS OMIM:608728 HPO:probinson 10.06.2012
-OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0005054 Metaphyseal spurs TAS TAS OMIM:608728 HPO:probinson 10.06.2012
-OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0010582 Irregular epiphyses TAS TAS OMIM:608728 HPO:probinson 18.06.2012
-OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0010585 Small epiphyses TAS TAS OMIM:608728 HPO:probinson 18.06.2012
-OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0003300 Ovoid vertebral bodies PCS PCS on lateral projection pmid:15121775 HPO:probinson 29.07.2012
-OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0000926 Platyspondyly PCS PCS on AP projection pmid:15121775 HPO:probinson 29.07.2012
-OMIM:608728 #608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED;;SEMD, MATN3-RELATED HP:0005753 Limb shortening IEA IEA OMIM-CS:SKELETAL_LIMBS > SHORT LIMBS OMIM:608728 HPO:skoehler 17.10.2012
+OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:608728 HPO:probinson Feb 17, 2009
+OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0000922 Posterior rib cupping TAS TAS OMIM:608728 HPO:probinson Feb 17, 2009
+OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0001377 Limited elbow extension TAS TAS OMIM:608728 HPO:probinson Feb 17, 2009
+OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0002515 Waddling gait TAS TAS OMIM:608728 HPO:probinson Feb 17, 2009
+OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0002651 Spondyloepimetaphyseal dysplasia TAS TAS OMIM:608728 HPO:probinson Feb 17, 2009
+OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0002868 Narrow iliac wings TAS TAS OMIM:608728 HPO:probinson Feb 17, 2009
+OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0002938 Lumbar hyperlordosis TAS TAS OMIM:608728 HPO:probinson Feb 17, 2009
+OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0002979 Bowing of the legs TAS TAS OMIM:608728 HPO:probinson Feb 17, 2009
+OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0003026 Short long bones TAS TAS OMIM:608728 HPO:probinson Feb 17, 2009
+OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0003173 Hypoplastic pubic bone TAS TAS OMIM:608728 HPO:probinson Feb 17, 2009
+OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0003180 Flat acetabular roof TAS TAS OMIM:608728 HPO:probinson Feb 17, 2009
+OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0005257 Thoracic hypoplasia TAS TAS OMIM:608728 HPO:probinson Feb 17, 2009
+OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0008794 Dysplastic iliac wings TAS TAS OMIM:608728 HPO:probinson Feb 17, 2009
+OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0008873 Disproportionate short-limb short stature TAS TAS OMIM:608728 HPO:probinson Feb 17, 2009
+OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0003016 Metaphyseal widening TAS TAS OMIM:608728 HPO:probinson Jun 10, 2012
+OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0005054 Metaphyseal spurs TAS TAS OMIM:608728 HPO:probinson Jun 10, 2012
+OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0010582 Irregular epiphyses TAS TAS OMIM:608728 HPO:probinson Jun 18, 2012
+OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0010585 Small epiphyses TAS TAS OMIM:608728 HPO:probinson Jun 18, 2012
+OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0003300 Ovoid vertebral bodies PCS PCS on lateral projection pmid:15121775 HPO:probinson Jul 29, 2012
+OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED HP:0000926 Platyspondyly PCS PCS on AP projection pmid:15121775 HPO:probinson Jul 29, 2012
+OMIM:608728 #608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED;;SEMD, MATN3-RELATED HP:0005753 Limb shortening TAS TAS OMIM-CS:SKELETAL_LIMBS > SHORT LIMBS OMIM:608728 HPO:skoehler Oct 17, 2012
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From: <pr...@us...> - 2015-02-22 18:04:34
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Revision: 5309
http://sourceforge.net/p/obo/svn/5309
Author: probins
Date: 2015-02-22 18:04:26 +0000 (Sun, 22 Feb 2015)
Log Message:
-----------
Removing 176705 (Prohibitin), not a disease entry
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-176400.tab
Removed Paths:
-------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-176705.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-176400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-176400.tab 2015-02-22 18:01:15 UTC (rev 5308)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-176400.tab 2015-02-22 18:04:26 UTC (rev 5309)
@@ -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:176400 PRECOCIOUS PUBERTY, CENTRAL HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:176400 HPO 17.02.2009
-OMIM:176400 PRECOCIOUS PUBERTY, CENTRAL HP:0000821 Hypothyroidism IEA IEA OMIM:176400 HPO:skoehler 20.06.2010
-OMIM:176400 PRECOCIOUS PUBERTY, CENTRAL HP:0001507 Growth abnormality IEA IEA OMIM:176400 HPO 17.02.2009
-OMIM:176400 PRECOCIOUS PUBERTY, CENTRAL HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:176400 HPO 17.02.2009
-OMIM:176400 PRECOCIOUS PUBERTY, CENTRAL HP:0008236 Isosexual precocious puberty IEA IEA OMIM:176400 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:176400 PRECOCIOUS PUBERTY, CENTRAL HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:176400 HPO Feb 17, 2009
+OMIM:176400 PRECOCIOUS PUBERTY, CENTRAL HP:0000821 Hypothyroidism TAS TAS Occasional OMIM:176400 HPO:skoehler Jun 20, 2010
+OMIM:176400 PRECOCIOUS PUBERTY, CENTRAL HP:0004322 Short stature HP:0003581 Adult onset TAS TAS OMIM:176400 HPO Feb 17, 2009
+OMIM:176400 PRECOCIOUS PUBERTY, CENTRAL HP:0008236 Isosexual precocious puberty TAS TAS OMIM:176400 HPO Feb 17, 2009
+OMIM:176400 PRECOCIOUS PUBERTY, CENTRAL HP:0011969 Elevated luteinizing hormone TAS TAS OMIM:176400 HPO Feb 22, 2015
+OMIM:176400 PRECOCIOUS PUBERTY, CENTRAL HP:0008232 Elevated follicle stimulating hormone TAS TAS OMIM:176400 HPO Feb 22, 2015
Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-176705.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-176705.tab 2015-02-22 18:01:15 UTC (rev 5308)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-176705.tab 2015-02-22 18:04:26 UTC (rev 5309)
@@ -1,4 +0,0 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:176705 PROHIBITIN HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:176705 HPO 17.02.2009
-OMIM:176705 PROHIBITIN HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:176705 HPO 17.02.2009
-OMIM:176705 PROHIBITIN HP:0002664 Neoplasm IEA IEA OMIM:176705 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...> - 2015-02-22 18:01:23
|
Revision: 5308
http://sourceforge.net/p/obo/svn/5308
Author: probins
Date: 2015-02-22 18:01:15 +0000 (Sun, 22 Feb 2015)
Log Message:
-----------
Removing 176385 (PREGNANCY-ASSOCIATED PLASMA PROTEIN A) not a disease entry
Removed Paths:
-------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-176385.tab
Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-176385.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-176385.tab 2015-02-22 18:00:11 UTC (rev 5307)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-176385.tab 2015-02-22 18:01:15 UTC (rev 5308)
@@ -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:176385 PREGNANCY-ASSOCIATED PLASMA PROTEIN A HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:176385 HPO 17.02.2009
-OMIM:176385 PREGNANCY-ASSOCIATED PLASMA PROTEIN A HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:176385 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...> - 2015-02-22 18:00:20
|
Revision: 5307
http://sourceforge.net/p/obo/svn/5307
Author: probins
Date: 2015-02-22 18:00:11 +0000 (Sun, 22 Feb 2015)
Log Message:
-----------
Revising annotations
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-173400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-175505.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-175510.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-175800.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-176200.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615191.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615219.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-173400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-173400.tab 2015-02-22 17:39:34 UTC (rev 5306)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-173400.tab 2015-02-22 18:00:11 UTC (rev 5307)
@@ -1,4 +1,4 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:173400 PLATELET AGGREGATION, SPONTANEOUS HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:173400 HPO 17.02.2009
-OMIM:173400 PLATELET AGGREGATION, SPONTANEOUS HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:173400 HPO 17.02.2009
-OMIM:173400 PLATELET AGGREGATION, SPONTANEOUS HP:0004419 Recurrent thrombophlebitis IEA IEA OMIM:173400 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:173400 PLATELET AGGREGATION, SPONTANEOUS HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:173400 HPO:probinson Feb 17, 2009
+OMIM:173400 PLATELET AGGREGATION, SPONTANEOUS HP:0004419 Recurrent thrombophlebitis TAS TAS OMIM:173400 HPO:probinson Feb 17, 2009
+OMIM:173400 PLATELET AGGREGATION, SPONTANEOUS HP:0011869 Abnormal platelet function TAS TAS OMIM:173400 HPO:probinson Feb 22, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-175505.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-175505.tab 2015-02-22 17:39:34 UTC (rev 5306)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-175505.tab 2015-02-22 18:00:11 UTC (rev 5307)
@@ -1,4 +1,4 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:175505 POLYPOSIS OF GASTRIC FUNDUS WITHOUT POLYPOSIS COLI HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:175505 HPO 17.02.2009
-OMIM:175505 POLYPOSIS OF GASTRIC FUNDUS WITHOUT POLYPOSIS COLI HP:0001438 Abnormality of the abdomen IEA IEA OMIM:175505 HPO 17.02.2009
-OMIM:175505 POLYPOSIS OF GASTRIC FUNDUS WITHOUT POLYPOSIS COLI HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:175505 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:175505 POLYPOSIS OF GASTRIC FUNDUS WITHOUT POLYPOSIS COLI HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:175505 HPO:probinson Feb 17, 2009
+OMIM:175505 POLYPOSIS OF GASTRIC FUNDUS WITHOUT POLYPOSIS COLI HP:0004295 Abnormality of the gastric mucosa TAS TAS OMIM:175505 HPO:probinson Feb 22, 2015
+OMIM:175505 POLYPOSIS OF GASTRIC FUNDUS WITHOUT POLYPOSIS COLI HP:0004394 Multiple gastric polyps TAS TAS OMIM:175505 HPO:probinson Feb 22, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-175510.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-175510.tab 2015-02-22 17:39:34 UTC (rev 5306)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-175510.tab 2015-02-22 18:00:11 UTC (rev 5307)
@@ -1,4 +1,4 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:175510 POLYPS, MULTIPLE AND RECURRENT INFLAMMATORY FIBROID, GASTROINTESTINAL HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:175510 HPO 17.02.2009
-OMIM:175510 POLYPS, MULTIPLE AND RECURRENT INFLAMMATORY FIBROID, GASTROINTESTINAL HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:175510 HPO 17.02.2009
-OMIM:175510 POLYPS, MULTIPLE AND RECURRENT INFLAMMATORY FIBROID, GASTROINTESTINAL HP:0002576 Intussusception IEA IEA OMIM:175510 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:175510 POLYPS, MULTIPLE AND RECURRENT INFLAMMATORY FIBROID, GASTROINTESTINAL HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:175510 HPO:probinson Feb 17, 2009
+OMIM:175510 POLYPS, MULTIPLE AND RECURRENT INFLAMMATORY FIBROID, GASTROINTESTINAL HP:0200008 Intestinal polyposis TAS TAS OMIM:175510 HPO Feb 17, 2009
+OMIM:175510 POLYPS, MULTIPLE AND RECURRENT INFLAMMATORY FIBROID, GASTROINTESTINAL HP:0002576 Intussusception TAS TAS OMIM:175510 HPO:probinson Feb 17, 2009
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-175800.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-175800.tab 2015-02-22 17:39:34 UTC (rev 5306)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-175800.tab 2015-02-22 18:00:11 UTC (rev 5307)
@@ -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:175800 POROKERATOSIS OF MIBELLI HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:175800 HPO 17.02.2009
-OMIM:175800 POROKERATOSIS OF MIBELLI HP:0000951 Abnormality of the skin IEA IEA OMIM:175800 HPO 17.02.2009
-OMIM:175800 POROKERATOSIS OF MIBELLI HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:175800 HPO 17.02.2009
-OMIM:175800 POROKERATOSIS OF MIBELLI HP:0002664 Neoplasm IEA IEA OMIM:175800 HPO 17.02.2009
-OMIM:175800 POROKERATOSIS OF MIBELLI HP:0003596 Middle age onset IEA IEA OMIM:175800 HPO 17.02.2009
-OMIM:175800 POROKERATOSIS OF MIBELLI HP:0200044 Porokeratosis IEA IEA Disease name contained:porokeratosis of mibelli OMIM:175800 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:175800 POROKERATOSIS OF MIBELLI HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:175800 HPO:probinson Feb 17, 2009
+OMIM:175800 POROKERATOSIS OF MIBELLI HP:0008069 Neoplasm of the skin TAS TAS Frequent OMIM:175800 HPO:probinson Feb 17, 2009
+OMIM:175800 POROKERATOSIS OF MIBELLI HP:0003596 Middle age onset TAS TAS OMIM:175800 HPO:probinson Feb 17, 2009
+OMIM:175800 POROKERATOSIS OF MIBELLI HP:0200044 Porokeratosis TAS TAS Disease name contained:porokeratosis of mibelli OMIM:175800 HPO:skoehler Jan 27, 2015
+OMIM:175800 POROKERATOSIS OF MIBELLI HP:0003220 Abnormality of chromosome stability TAS TAS OMIM:175800 HPO:probinson Feb 22, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-176200.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-176200.tab 2015-02-22 17:39:34 UTC (rev 5306)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-176200.tab 2015-02-22 18:00:11 UTC (rev 5307)
@@ -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:176200 PORPHYRIA VARIEGATA HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:176200 HPO 17.02.2009
-OMIM:176200 PORPHYRIA VARIEGATA HP:0000709 Psychosis IEA IEA OMIM:176200 HPO 17.02.2009
-OMIM:176200 PORPHYRIA VARIEGATA HP:0000992 Cutaneous photosensitivity IEA IEA OMIM:176200 HPO 17.02.2009
-OMIM:176200 PORPHYRIA VARIEGATA HP:0001649 Tachycardia IEA IEA OMIM:176200 HPO 17.02.2009
-OMIM:176200 PORPHYRIA VARIEGATA HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:176200 HPO 17.02.2009
-OMIM:176200 PORPHYRIA VARIEGATA HP:0002013 Vomiting IEA IEA OMIM:176200 HPO 17.02.2009
-OMIM:176200 PORPHYRIA VARIEGATA HP:0002019 Constipation IEA IEA OMIM:176200 HPO 17.02.2009
-OMIM:176200 PORPHYRIA VARIEGATA HP:0002027 Abdominal pain IEA IEA OMIM:176200 HPO 17.02.2009
-OMIM:176200 PORPHYRIA VARIEGATA HP:0009830 Peripheral neuropathy IEA IEA OMIM:176200 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:176200 PORPHYRIA VARIEGATA HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:176200 HPO:probinson Feb 17, 2009
+OMIM:176200 PORPHYRIA VARIEGATA HP:0000709 Psychosis TAS TAS OMIM:176200 HPO:probinson Feb 17, 2009
+OMIM:176200 PORPHYRIA VARIEGATA HP:0000992 Cutaneous photosensitivity TAS TAS OMIM:176200 HPO:probinson Feb 17, 2009
+OMIM:176200 PORPHYRIA VARIEGATA HP:0001649 Tachycardia TAS TAS OMIM:176200 HPO:probinson Feb 17, 2009
+OMIM:176200 PORPHYRIA VARIEGATA HP:0010473 Porphyrinuria TAS TAS OMIM:176200 HPO:probinson Feb 17, 2009
+OMIM:176200 PORPHYRIA VARIEGATA HP:0002013 Vomiting TAS TAS OMIM:176200 HPO:probinson Feb 17, 2009
+OMIM:176200 PORPHYRIA VARIEGATA HP:0002019 Constipation TAS TAS OMIM:176200 HPO:probinson Feb 17, 2009
+OMIM:176200 PORPHYRIA VARIEGATA HP:0002027 Abdominal pain TAS TAS OMIM:176200 HPO:probinson Feb 17, 2009
+OMIM:176200 PORPHYRIA VARIEGATA HP:0009830 Peripheral neuropathy TAS TAS OMIM:176200 HPO:probinson Feb 17, 2009
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615191.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615191.tab 2015-02-22 17:39:34 UTC (rev 5306)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615191.tab 2015-02-22 18:00:11 UTC (rev 5307)
@@ -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:615191 #615191 LISSENCEPHALY 5; LIS5 HP:0000648 Optic atrophy IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > OPTIC ATROPHY (IN SOME PATIENTS) OMIM:615191 HPO:skoehler 03.05.2013
-OMIM:615191 #615191 LISSENCEPHALY 5; LIS5 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:615191 HPO:skoehler 03.05.2013
-OMIM:615191 #615191 LISSENCEPHALY 5; LIS5 HP:0002365 Hypoplasia of the brainstem IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > BRAINSTEM HYPOPLASIA OMIM:615191 HPO:skoehler 03.05.2013
-OMIM:615191 #615191 LISSENCEPHALY 5; LIS5 HP:0001321 Cerebellar hypoplasia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR HYPOPLASIA OMIM:615191 HPO:skoehler 03.05.2013
-OMIM:615191 #615191 LISSENCEPHALY 5; LIS5 HP:0000238 Hydrocephalus IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYDROCEPHALUS OMIM:615191 HPO:skoehler 03.05.2013
-OMIM:615191 #615191 LISSENCEPHALY 5; LIS5 HP:0002085 Occipital encephalocele IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > OCCIPITAL ENCEPHALOCELE OMIM:615191 HPO:skoehler 03.05.2013
-OMIM:615191 #615191 LISSENCEPHALY 5; LIS5 HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PSYCHOMOTOR RETARDATION, SEVERE OMIM:615191 HPO:skoehler 03.05.2013
-OMIM:615191 #615191 LISSENCEPHALY 5; LIS5 HP:0001250 Seizures IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES OMIM:615191 HPO:skoehler 03.05.2013
-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
-
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:615191 #615191 LISSENCEPHALY 5; LIS5 HP:0000648 Optic atrophy TAS TAS rare OMIM-CS:HEAD AND NECK_EYES > OPTIC ATROPHY (IN SOME PATIENTS) OMIM:615191 HPO:skoehler May 3, 2013
+OMIM:615191 #615191 LISSENCEPHALY 5; LIS5 HP:0000007 Autosomal recessive inheritance TAS TAS OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:615191 HPO:skoehler May 3, 2013
+OMIM:615191 #615191 LISSENCEPHALY 5; LIS5 HP:0002365 Hypoplasia of the brainstem TAS TAS OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > BRAINSTEM HYPOPLASIA OMIM:615191 HPO:skoehler May 3, 2013
+OMIM:615191 #615191 LISSENCEPHALY 5; LIS5 HP:0001321 Cerebellar hypoplasia TAS TAS OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR HYPOPLASIA OMIM:615191 HPO:skoehler May 3, 2013
+OMIM:615191 #615191 LISSENCEPHALY 5; LIS5 HP:0000238 Hydrocephalus TAS TAS OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYDROCEPHALUS OMIM:615191 HPO:skoehler May 3, 2013
+OMIM:615191 #615191 LISSENCEPHALY 5; LIS5 HP:0002085 Occipital encephalocele TAS TAS OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > OCCIPITAL ENCEPHALOCELE OMIM:615191 HPO:skoehler May 3, 2013
+OMIM:615191 #615191 LISSENCEPHALY 5; LIS5 HP:0001250 Seizures TAS TAS OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES OMIM:615191 HPO:skoehler May 3, 2013
+OMIM:615191 #615191 LISSENCEPHALY 5; LIS5 HP:0002500 Abnormality of the cerebral white matter TAS TAS OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > WHITE MATTER ABNORMALITIES OMIM:615191 HPO:skoehler May 3, 2013
+OMIM:615191 #615191 LISSENCEPHALY 5; LIS5 HP:0001252 Muscular hypotonia TAS TAS OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPOTONIA OMIM:615191 HPO:skoehler Nov 26, 2014
+OMIM:615191 #615191 LISSENCEPHALY 5; LIS5 HP:0001339 Lissencephaly TAS TAS Disease name contained:#615191 lissencephaly 5; lis5 OMIM:615191 HPO:skoehler Jan 21, 2015
+OMIM:615191 #615191 LISSENCEPHALY 5; LIS5 HP:0000256 Macrocephaly TAS TAS OMIM-CS:HEAD AND NECK_HEAD > MACROCEPHALY DUE TO HYDROCEPHALUS OMIM:615191 HPO:skoehler Feb 22, 2015
+OMIM:615191 #615191 LISSENCEPHALY 5; LIS5 HP:0011344 Severe global developmental delay TAS TAS OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PSYCHOMOTOR RETARDATION, SEVERE OMIM:615191 HPO:skoehler Feb 22, 2015
+OMIM:615191 #615191 LISSENCEPHALY 5; LIS5 HP:0002281 Gray matter heterotopias PCS PCS OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PSYCHOMOTOR RETARDATION, SEVERE pmid:23472759 HPO:probinson Feb 22, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615219.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615219.tab 2015-02-22 17:39:34 UTC (rev 5306)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615219.tab 2015-02-22 18:00:11 UTC (rev 5307)
@@ -1,5 +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:615219 #615219 HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2; HYC2 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:615219 HPO:skoehler 05.06.2013
-OMIM:615219 #615219 HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2; HYC2 HP:0003577 Congenital onset IEA IEA OMIM-CS:MISCELLANEOUS > ONSET IN UTERO OMIM:615219 HPO:skoehler 05.06.2013
-OMIM:615219 #615219 HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2; HYC2 HP:0001250 Seizures IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES OMIM:615219 HPO:skoehler 05.06.2013
-OMIM:615219 #615219 HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2; HYC2 HP:0200135 Macrocephaly due to hydrocephalus IEA IEA OMIM-CS:HEAD AND NECK_HEAD > MACROCEPHALY DUE TO HYDROCEPHALUS OMIM:615219 HPO:skoehler 12.06.2013
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:615219 #615219 HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2; HYC2 HP:0000007 Autosomal recessive inheritance TAS TAS OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:615219 HPO:skoehler Jun 5, 2013
+OMIM:615219 #615219 HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2; HYC2 HP:0003577 Congenital onset TAS TAS OMIM-CS:MISCELLANEOUS > ONSET IN UTERO OMIM:615219 HPO:skoehler Jun 5, 2013
+OMIM:615219 #615219 HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2; HYC2 HP:0001250 Seizures TAS TAS OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES OMIM:615219 HPO:skoehler Jun 5, 2013
+OMIM:615219 #615219 HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2; HYC2 HP:0001334 Communicating hydrocephalus TAS TAS OMIM-CS:HEAD AND NECK_HEAD > MACROCEPHALY DUE TO HYDROCEPHALUS OMIM:615219 HPO:skoehler Feb 22, 2015
+OMIM:615219 #615219 HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2; HYC2 HP:0000256 Macrocephaly TAS TAS OMIM-CS:HEAD AND NECK_HEAD > MACROCEPHALY DUE TO HYDROCEPHALUS OMIM:615219 HPO:skoehler Feb 22, 2015
+OMIM:615219 #615219 HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2; HYC2 HP:0009879 Cortical gyral simplification TAS TAS OMIM-CS:HEAD AND NECK_HEAD > MACROCEPHALY DUE TO HYDROCEPHALUS OMIM:615219 HPO:probinson Feb 22, 2015
+OMIM:615219 #615219 HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2; HYC2 HP:0001249 Intellectual disability TAS TAS OMIM-CS:HEAD AND NECK_HEAD > MACROCEPHALY DUE TO HYDROCEPHALUS OMIM:615219 HPO:probinson Feb 22, 2015
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From: <pr...@us...> - 2015-02-22 17:39:37
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Revision: 5306
http://sourceforge.net/p/obo/svn/5306
Author: probins
Date: 2015-02-22 17:39:34 +0000 (Sun, 22 Feb 2015)
Log Message:
-----------
Revising skel dyspl annotation
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-156500.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-177170.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184253.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184255.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184260.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-250250.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-271550.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600002.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602111.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602271.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608940.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-156500.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-156500.tab 2015-02-22 11:38:18 UTC (rev 5305)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-156500.tab 2015-02-22 17:39:34 UTC (rev 5306)
@@ -1,22 +1,19 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:156500 HPO Feb 17, 2009
-OMIM:156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE HP:0000926 Platyspondyly IEA IEA OMIM:156500 HPO Feb 17, 2009
+OMIM:156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:156500 HPO:probinson Feb 17, 2009
+OMIM:156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE HP:0000926 Platyspondyly TAS TAS Mild OMIM:156500 HPO:probinson Feb 17, 2009
OMIM:156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE HP:0002515 Waddling gait TAS TAS Often presenting sign in second year OMIM:156500 HPO:probinson Feb 17, 2009
-OMIM:156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE HP:0002812 Coxa vara IEA IEA OMIM:156500 HPO Feb 17, 2009
-OMIM:156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE HP:0002970 Genu varum IEA IEA OMIM:156500 HPO Feb 17, 2009
-OMIM:156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE HP:0002980 Femoral bowing IEA IEA OMIM:156500 HPO Feb 17, 2009
-OMIM:156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE HP:0003301 Irregular vertebral endplates IEA IEA OMIM:156500 HPO Feb 17, 2009
-OMIM:156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE HP:0003371 Enlargement of the proximal femoral epiphysis IEA IEA OMIM:156500 HPO Feb 17, 2009
-OMIM:156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE HP:0003502 Mild short stature IEA IEA OMIM:156500 HPO Feb 17, 2009
-OMIM:156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE HP:0005871 Metaphyseal chondrodysplasia TAS TAS OMIM:156500 HPO Feb 17, 2009
+OMIM:156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE HP:0002812 Coxa vara TAS TAS OMIM:156500 HPO:probinson Feb 17, 2009
+OMIM:156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE HP:0002970 Genu varum TAS TAS OMIM:156500 HPO:probinson Feb 17, 2009
+OMIM:156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE HP:0002980 Femoral bowing TAS TAS OMIM:156500 HPO:probinson Feb 17, 2009
+OMIM:156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE HP:0003301 Irregular vertebral endplates TAS TAS OMIM:156500 HPO:probinson Feb 17, 2009
+OMIM:156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE HP:0003371 Enlargement of the proximal femoral epiphysis TAS TAS OMIM:156500 HPO:probinson Feb 17, 2009
+OMIM:156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE HP:0003502 Mild short stature TAS TAS OMIM:156500 HPO:probinson Feb 17, 2009
+OMIM:156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE HP:0005871 Metaphyseal chondrodysplasia TAS TAS OMIM:156500 HPO:probinson Feb 17, 2009
OMIM:156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE HP:0006028 Metaphyseal cupping of metacarpals TAS TAS OMIM:156500 HPO:probinson Feb 17, 2009
-OMIM:156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE HP:0006208 Metaphyseal cupping of proximal phalanges IEA IEA OMIM:156500 HPO Feb 17, 2009
-OMIM:156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE HP:0006414 Distal tibial bowing IEA IEA OMIM:156500 HPO Feb 17, 2009
-OMIM:156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE HP:0006431 Metaphyseal abnormalities of distal and proximal femurs IEA IEA OMIM:156500 HPO Feb 17, 2009
-OMIM:156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE HP:0006634 Osteosclerosis of ribs IEA IEA OMIM:156500 HPO Feb 17, 2009
-OMIM:156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE HP:0008833 Irregular acetabular roof IEA IEA OMIM:156500 HPO Feb 17, 2009
-OMIM:156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE HP:0009882 Short distal phalanx of finger IEA IEA OMIM:156500 HPO Feb 17, 2009
-OMIM:156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE HP:0009844 Broad middle phalanx of finger TAS TAS OMIM:156500 HPO Jun 9, 2012
-OMIM:156500 #156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS;;SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE HP:0009844 Broad middle phalanx of finger TAS TAS OMIM:156500 HPO:skoehler Apr 13, 2013
+OMIM:156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE HP:0006208 Metaphyseal cupping of proximal phalanges TAS TAS OMIM:156500 HPO:probinson Feb 17, 2009
+OMIM:156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE HP:0006414 Distal tibial bowing TAS TAS OMIM:156500 HPO:probinson Feb 17, 2009
+OMIM:156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE HP:0006431 Metaphyseal abnormalities of distal and proximal femurs IEA IEA OMIM:156500 HPO:probinson Feb 17, 2009
+OMIM:156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE HP:0008833 Irregular acetabular roof TAS TAS OMIM:156500 HPO:probinson Feb 17, 2009
+OMIM:156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE HP:0009882 Short distal phalanx of finger TAS TAS OMIM:156500 HPO:probinson Feb 17, 2009
OMIM:156500 #156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS;;SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE HP:0005819 Short middle phalanx of finger TAS TAS OMIM:156500 HPO:skoehler Apr 13, 2013
OMIM:156500 #156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS;;SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE HP:0009844 Broad middle phalanx of finger TAS TAS OMIM:156500 HPO:skoehler Apr 13, 2013
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-177170.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-177170.tab 2015-02-22 11:38:18 UTC (rev 5305)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-177170.tab 2015-02-22 17:39:34 UTC (rev 5306)
@@ -1,43 +1,43 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0000006 Autosomal dominant inheritance TAS TAS MIM:177170 HPO:probinson Feb 17, 2009
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0000926 Platyspondyly HP:0011463 Childhood onset PCS PCS ISBN-13:978-0721606156 HPO Feb 17, 2009
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0001156 Brachydactyly syndrome PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO Feb 17, 2009
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0001380 Ligamentous laxity PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO Feb 17, 2009
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0001388 Joint laxity PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO Feb 17, 2009
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0004236 Irregular carpal bones PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO Feb 17, 2009
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0002515 Waddling gait HP:0011463 Childhood onset PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO Feb 17, 2009
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0002650 Scoliosis PCS PCS ISBN-13:978-0721606156 HPO Feb 17, 2009
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0002808 Kyphosis PCS PCS ISBN-13:978-0721606156 HPO Feb 17, 2009
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0002857 Genu valgum PCS PCS ISBN-13:978-0721606156 HPO Feb 17, 2009
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0002938 Lumbar hyperlordosis PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO Feb 17, 2009
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0009487 Ulnar deviation of the hand PCS PCS ISBN-13:978-0721606156 HPO Feb 17, 2009
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0001377 Limited elbow extension PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO Feb 17, 2009
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0003311 Hypoplasia of the odontoid process PCS PCS ISBN-13:978-0721606156 HPO Feb 17, 2009
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0003414 Atlantoaxial dislocation PCS PCS ISBN-13:978-0721606156 HPO Feb 17, 2009
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0004577 anterior flattening and/or beaking of vertebrae HP:0011463 Childhood onset PCS PCS ISBN-13:978-0721606156 HPO Feb 17, 2009
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0003025 Metaphyseal irregularity PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO Feb 17, 2009
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0010582 Irregular epiphyses PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO Feb 17, 2009
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0001498 Carpal bone hypoplasia PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO Feb 17, 2009
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0007145 Cervical cord compression myelopathy PCS PCS ISBN-13:978-0721606156 HPO Feb 17, 2009
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0008873 Disproportionate short-limb short stature HP:0011463 Childhood onset PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO Jul 12, 2010
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0001379 Degenerative joint disease PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO Jul 12, 2010
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0002829 Arthralgia HP:0011463 Childhood onset PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO Jul 12, 2010
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0008810 Limited hip abduction/extension PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO Jul 12, 2010
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0002663 Delayed epiphyseal ossification PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO Jul 12, 2010
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0002970 Genu varum PCS PCS ISBN-13:978-0721606156 HPO Jul 12, 2010
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0002816 Genu recurvatum PCS PCS ISBN-13:978-0721606156 HPO Jul 12, 2010
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0003026 Short long bones PCS PCS ISBN-13:978-0721606156 HPO Jul 12, 2010
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0003016 Metaphyseal widening PCS PCS ISBN-13:978-0721606156 HPO Jul 12, 2010
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0010585 Small epiphyses PCS PCS ISBN-13:978-0721606156 HPO Jul 12, 2010
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0100168 Fragmented epiphyses PCS PCS ISBN-13:978-0721606156 HPO Jul 12, 2010
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0009882 Short distal phalanx of finger PCS PCS ISBN-13:978-0721606156 HPO Jul 12, 2010
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0000926 Platyspondyly HP:0011463 Childhood onset PCS PCS ISBN-13:978-0721606156 HPO:probinson Feb 17, 2009
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0001156 Brachydactyly syndrome PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO:probinson Feb 17, 2009
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0001380 Ligamentous laxity PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO:probinson Feb 17, 2009
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0001388 Joint laxity PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO:probinson Feb 17, 2009
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0004236 Irregular carpal bones PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO:probinson Feb 17, 2009
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0002515 Waddling gait HP:0011463 Childhood onset PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO:probinson Feb 17, 2009
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0002650 Scoliosis PCS PCS ISBN-13:978-0721606156 HPO:probinson Feb 17, 2009
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0002808 Kyphosis PCS PCS ISBN-13:978-0721606156 HPO:probinson Feb 17, 2009
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0002857 Genu valgum PCS PCS ISBN-13:978-0721606156 HPO:probinson Feb 17, 2009
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0002938 Lumbar hyperlordosis PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO:probinson Feb 17, 2009
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0009487 Ulnar deviation of the hand PCS PCS ISBN-13:978-0721606156 HPO:probinson Feb 17, 2009
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0001377 Limited elbow extension PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO:probinson Feb 17, 2009
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0003311 Hypoplasia of the odontoid process PCS PCS ISBN-13:978-0721606156 HPO:probinson Feb 17, 2009
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0003414 Atlantoaxial dislocation PCS PCS ISBN-13:978-0721606156 HPO:probinson Feb 17, 2009
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0004577 anterior flattening and/or beaking of vertebrae HP:0011463 Childhood onset PCS PCS ISBN-13:978-0721606156 HPO:probinson Feb 17, 2009
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0003025 Metaphyseal irregularity PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO:probinson Feb 17, 2009
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0010582 Irregular epiphyses PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO:probinson Feb 17, 2009
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0001498 Carpal bone hypoplasia PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO:probinson Feb 17, 2009
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0007145 Cervical cord compression myelopathy PCS PCS ISBN-13:978-0721606156 HPO:probinson Feb 17, 2009
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0008873 Disproportionate short-limb short stature HP:0011463 Childhood onset PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO:probinson Jul 12, 2010
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0001379 Degenerative joint disease PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO:probinson Jul 12, 2010
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0002829 Arthralgia HP:0011463 Childhood onset PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO:probinson Jul 12, 2010
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0008810 Limited hip abduction/extension PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO:probinson Jul 12, 2010
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0002663 Delayed epiphyseal ossification PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO:probinson Jul 12, 2010
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0002970 Genu varum PCS PCS ISBN-13:978-0721606156 HPO:probinson Jul 12, 2010
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0002816 Genu recurvatum PCS PCS ISBN-13:978-0721606156 HPO:probinson Jul 12, 2010
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0003026 Short long bones PCS PCS ISBN-13:978-0721606156 HPO:probinson Jul 12, 2010
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0003016 Metaphyseal widening PCS PCS ISBN-13:978-0721606156 HPO:probinson Jul 12, 2010
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0010585 Small epiphyses PCS PCS ISBN-13:978-0721606156 HPO:probinson Jul 12, 2010
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0100168 Fragmented epiphyses PCS PCS ISBN-13:978-0721606156 HPO:probinson Jul 12, 2010
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0009882 Short distal phalanx of finger PCS PCS ISBN-13:978-0721606156 HPO:probinson Jul 12, 2010
MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0012307 Spatulate ribs PCS PCS ISBN-13:978-0721606156 HPO:probinson Jul 12, 2010
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0002758 Osteoarthritis PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO Jul 12, 2010
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0000763 Sensory neuropathy PCS PCS ISBN-13:978-0721606156 HPO Jul 12, 2010
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0010049 Short metacarpal PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO Jul 12, 2010
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0009803 Short phalanx of finger PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO Jul 12, 2010
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0004568 Beaking of vertebral bodies PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO Jul 28, 2012
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0002758 Osteoarthritis PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO:probinson Jul 12, 2010
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0000763 Sensory neuropathy PCS PCS ISBN-13:978-0721606156 HPO:probinson Jul 12, 2010
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0010049 Short metacarpal PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO:probinson Jul 12, 2010
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0009803 Short phalanx of finger PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO:probinson Jul 12, 2010
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0004568 Beaking of vertebral bodies PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO:probinson Jul 28, 2012
OMIM:177170 #177170 PSEUDOACHONDROPLASIA; PSACH;;PSEUDOACHONDROPLASTIC DYSPLASIA;;SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC HP:0011405 Childhood onset short-limb short stature TAS TAS OMIM:177170 HPO:skoehler Oct 17, 2012
OMIM:177170 #177170 PSEUDOACHONDROPLASIA; PSACH;;PSEUDOACHONDROPLASTIC DYSPLASIA;;SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC HP:0005063 Fragmented, irregular epiphyses IEA IEA OMIM-CS:SKELETAL_LIMBS > FRAGMENTED, IRREGULAR EPIPHYSES OMIM:177170 HPO:skoehler Oct 17, 2012
-OMIM:177170 #177170 PSEUDOACHONDROPLASIA; PSACH;;PSEUDOACHONDROPLASTIC DYSPLASIA;;SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC HP:0003049 Ulnar deviation of the wrist IEA IEA OMIM:177170 HPO:skoehler Oct 17, 2012
-OMIM:177170 #177170 PSEUDOACHONDROPLASIA; PSACH;;PSEUDOACHONDROPLASTIC DYSPLASIA;;SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC HP:0001249 Intellectual disability IEA IEA NOT NOT OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > NORMAL INTELLIGENCE OMIM:177170 HPO:skoehler 26.11.2014
+OMIM:177170 #177170 PSEUDOACHONDROPLASIA; PSACH;;PSEUDOACHONDROPLASTIC DYSPLASIA;;SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC HP:0003049 Ulnar deviation of the wrist TAS TAS OMIM:177170 HPO:skoehler Oct 17, 2012
+OMIM:177170 #177170 PSEUDOACHONDROPLASIA; PSACH;;PSEUDOACHONDROPLASTIC DYSPLASIA;;SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC HP:0001249 Intellectual disability TAS TAS NOT NOT OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > NORMAL INTELLIGENCE OMIM:177170 HPO:skoehler Nov 26, 2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184253.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184253.tab 2015-02-22 11:38:18 UTC (rev 5305)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184253.tab 2015-02-22 17:39:34 UTC (rev 5306)
@@ -1,18 +1,19 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:184253 HPO 17.02.2009
-OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0000545 Myopia IEA IEA OMIM:184253 HPO 17.02.2009
-OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0000907 Anterior rib cupping IEA IEA OMIM:184253 HPO 17.02.2009
-OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0000926 Platyspondyly IEA IEA OMIM:184253 HPO 17.02.2009
-OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0001248 Short tubular bones (hand) IEA IEA OMIM:184253 HPO 17.02.2009
-OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0001498 Carpal bone hypoplasia IEA IEA OMIM:184253 HPO 17.02.2009
-OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0002657 Spondylometaphyseal dysplasia IEA IEA OMIM:184253 HPO 17.02.2009
-OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0002751 Kyphoscoliosis IEA IEA OMIM:184253 HPO 17.02.2009
-OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0002812 Coxa vara IEA IEA OMIM:184253 HPO 17.02.2009
-OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0002857 Genu valgum IEA IEA OMIM:184253 HPO 17.02.2009
-OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0002938 Lumbar hyperlordosis IEA IEA OMIM:184253 HPO 17.02.2009
-OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0003185 Small sacroiliac notches IEA IEA OMIM:184253 HPO 17.02.2009
-OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0003510 Severe short stature IEA IEA OMIM:184253 HPO 17.02.2009
-OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0006365 Proximal radial shortening IEA IEA OMIM:184253 HPO 17.02.2009
-OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0006427 Severe metaphyseal changes of long bones IEA IEA OMIM:184253 HPO 17.02.2009
-OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0008839 Hypoplastic pelvis IEA IEA OMIM:184253 HPO 17.02.2009
-OMIM:184253 184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE;;SPONDYLOMETAPHYSEAL DYSPLASIA, SCHMIDT TYPE;;SPONDYLOMETAPHYSEAL DYSPLASIA WITH SEVERE GENU VALGUM HP:0003865 Bowed humerus IEA IEA OMIM-CS:SKELETAL_LIMBS > HUMERAL BOWING OMIM:184253 HPO:skoehler 17.10.2012
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:184253 HPO:probinson Feb 17, 2009
+OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0000545 Myopia TAS TAS OMIM:184253 HPO:probinson Feb 17, 2009
+OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0000907 Anterior rib cupping TAS TAS OMIM:184253 HPO:probinson Feb 17, 2009
+OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0000926 Platyspondyly TAS TAS OMIM:184253 HPO:probinson Feb 17, 2009
+OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0001248 Short tubular bones (hand) TAS TAS OMIM:184253 HPO:probinson Feb 17, 2009
+OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0001498 Carpal bone hypoplasia TAS TAS OMIM:184253 HPO:probinson Feb 17, 2009
+OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0002657 Spondylometaphyseal dysplasia TAS TAS OMIM:184253 HPO:probinson Feb 17, 2009
+OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0002751 Kyphoscoliosis TAS TAS OMIM:184253 HPO:probinson Feb 17, 2009
+OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0002812 Coxa vara TAS TAS OMIM:184253 HPO:probinson Feb 17, 2009
+OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0002857 Genu valgum TAS TAS OMIM:184253 HPO:probinson Feb 17, 2009
+OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0002938 Lumbar hyperlordosis TAS TAS OMIM:184253 HPO:probinson Feb 17, 2009
+OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0003185 Short sacroiliac notch TAS TAS OMIM:184253 HPO:probinson Feb 17, 2009
+OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0003510 Severe short stature TAS TAS OMIM:184253 HPO:probinson Feb 17, 2009
+OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0006434 Hypoplasia of proximal radius TAS TAS OMIM:184253 HPO:probinson Feb 17, 2009
+OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0008839 Hypoplastic pelvis TAS TAS OMIM:184253 HPO:probinson Feb 17, 2009
+OMIM:184253 184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE;;SPONDYLOMETAPHYSEAL DYSPLASIA, SCHMIDT TYPE;;SPONDYLOMETAPHYSEAL DYSPLASIA WITH SEVERE GENU VALGUM HP:0003865 Bowed humerus TAS TAS OMIM-CS:SKELETAL_LIMBS > HUMERAL BOWING OMIM:184253 HPO:skoehler Oct 17, 2012
+OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0003026 Short long bones TAS TAS OMIM:184253 HPO:probinson Feb 22, 2015
+OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0100255 Metaphyseal dysplasia TAS TAS OMIM:184253 HPO:probinson Feb 22, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184255.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184255.tab 2015-02-22 11:38:18 UTC (rev 5305)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184255.tab 2015-02-22 17:39:34 UTC (rev 5306)
@@ -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:184255 SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:184255 HPO 17.02.2009
-OMIM:184255 SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE HP:0002515 Waddling gait IEA IEA OMIM:184255 HPO 17.02.2009
-OMIM:184255 SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE HP:0002657 Spondylometaphyseal dysplasia IEA IEA OMIM:184255 HPO 17.02.2009
-OMIM:184255 SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE HP:0002812 Coxa vara IEA IEA OMIM:184255 HPO:skoehler 20.06.2010
-OMIM:184255 SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE HP:0003032 Short femoral neck IEA IEA OMIM:184255 HPO 17.02.2009
-OMIM:184255 SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE HP:0003311 Hypoplasia of the odontoid process IEA IEA OMIM:184255 HPO 17.02.2009
-OMIM:184255 SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE HP:0004322 Short stature IEA IEA OMIM:184255 HPO 17.02.2009
-OMIM:184255 SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE HP:0004603 Hyperconvex vertebral body endplates IEA IEA OMIM:184255 HPO 17.02.2009
-OMIM:184255 SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE HP:0003025 Irregular metaphyses TAS TAS OMIM:184255 HPO:probinson 26.05.2012
+OMIM:184255 SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:184255 HPO:probinson Feb 17, 2009
+OMIM:184255 SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE HP:0002515 Waddling gait TAS TAS OMIM:184255 HPO:probinson Feb 17, 2009
+OMIM:184255 SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE HP:0002657 Spondylometaphyseal dysplasia TAS TAS OMIM:184255 HPO:probinson Feb 17, 2009
+OMIM:184255 SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE HP:0002812 Coxa vara TAS TAS OMIM:184255 HPO:skoehler Jun 20, 2010
+OMIM:184255 SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE HP:0003032 Short femoral neck TAS TAS OMIM:184255 HPO:probinson Feb 17, 2009
+OMIM:184255 SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE HP:0003311 Hypoplasia of the odontoid process TAS TAS OMIM:184255 HPO:probinson Feb 17, 2009
+OMIM:184255 SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE HP:0004322 Short stature TAS TAS OMIM:184255 HPO:probinson Feb 17, 2009
+OMIM:184255 SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE HP:0004603 Hyperconvex vertebral body endplates TAS TAS OMIM:184255 HPO:probinson Feb 17, 2009
+OMIM:184255 SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE HP:0003025 Metaphyseal irregularity TAS TAS OMIM:184255 HPO:probinson May 26, 2012
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184260.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184260.tab 2015-02-22 11:38:18 UTC (rev 5305)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184260.tab 2015-02-22 17:39:34 UTC (rev 5306)
@@ -1,34 +1,31 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:184260 HPO 17.02.2009
-OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0000275 Narrow face IEA IEA OMIM:184260 HPO 17.02.2009
-OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0000343 Long philtrum IEA IEA OMIM:184260 HPO 17.02.2009
-OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0000684 Delayed eruption of teeth IEA IEA OMIM:184260 HPO:skoehler 20.06.2010
-OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0000703 Dentinogenesis imperfecta IEA IEA OMIM:184260 HPO 17.02.2009
-OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0000768 Pectus carinatum IEA IEA OMIM:184260 HPO 17.02.2009
-OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0000774 Narrow chest IEA IEA OMIM:184260 HPO 17.02.2009
-OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0000926 Platyspondyly IEA IEA OMIM:184260 HPO 17.02.2009
-OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0000939 Osteoporosis IEA IEA OMIM:184260 HPO 17.02.2009
-OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0001216 Delayed ossification of carpal bones IEA IEA OMIM:184260 HPO 17.02.2009
-OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0001270 Motor delay IEA IEA OMIM:184260 HPO 17.02.2009
-OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0001382 Joint hypermobility IEA IEA OMIM:184260 HPO 17.02.2009
-OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:184260 HPO 17.02.2009
-OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0002007 Frontal bossing IEA IEA OMIM:184260 HPO 17.02.2009
-OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0002098 Respiratory distress IEA IEA OMIM:184260 HPO 17.02.2009
-OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0002650 Scoliosis IEA IEA OMIM:184260 HPO 17.02.2009
-OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0002816 Genu recurvatum IEA IEA OMIM:184260 HPO 17.02.2009
-OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0002869 Flared iliac wings IEA IEA OMIM:184260 HPO 17.02.2009
-OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0002970 Genu varum IEA IEA OMIM:184260 HPO 17.02.2009
-OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0003026 Short long bones IEA IEA OMIM:184260 HPO 17.02.2009
-OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0003027 Mesomelia IEA IEA OMIM:184260 HPO 17.02.2009
-OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0003171 Horizontal acetabular roof IEA IEA OMIM:184260 HPO 17.02.2009
-OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0003417 Coronal cleft vertebrae IEA IEA OMIM:184260 HPO 17.02.2009
-OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0004322 Short stature IEA IEA OMIM:184260 HPO 17.02.2009
-OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0004625 Biconvex vertebral bodies IEA IEA OMIM:184260 HPO 17.02.2009
-OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0009803 Short phalanx of finger IEA IEA OMIM:184260 HPO 17.02.2009
-OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0010049 Short metacarpal IEA IEA OMIM:184260 HPO 17.02.2009
-OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0010230 Cone-shaped epiphyses of the phalanges of the hand IEA IEA OMIM:184260 HPO 17.02.2009
-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
-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
+OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:184260 HPO:probinson Feb 17, 2009
+OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0000275 Narrow face TAS TAS OMIM:184260 HPO:probinson Feb 17, 2009
+OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0000343 Long philtrum TAS TAS OMIM:184260 HPO:probinson Feb 17, 2009
+OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0000684 Delayed eruption of teeth TAS TAS OMIM:184260 HPO:skoehler Jun 20, 2010
+OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0000703 Dentinogenesis imperfecta TAS TAS OMIM:184260 HPO:probinson Feb 17, 2009
+OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0000768 Pectus carinatum TAS TAS OMIM:184260 HPO:probinson Feb 17, 2009
+OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0000774 Narrow chest TAS TAS OMIM:184260 HPO:probinson Feb 17, 2009
+OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0000926 Platyspondyly HP:0003623 Neonatal onset TAS TAS OMIM:184260 HPO:probinson Feb 17, 2009
+OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0000939 Osteoporosis TAS TAS OMIM:184260 HPO:probinson Feb 17, 2009
+OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0001216 Delayed ossification of carpal bones TAS TAS OMIM:184260 HPO:probinson Feb 17, 2009
+OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0001270 Motor delay TAS TAS OMIM:184260 HPO:probinson Feb 17, 2009
+OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0001382 Joint hypermobility TAS TAS OMIM:184260 HPO:probinson Feb 17, 2009
+OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0002098 Respiratory distress TAS TAS OMIM:184260 HPO:probinson Feb 17, 2009
+OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0002650 Scoliosis TAS TAS OMIM:184260 HPO:probinson Feb 17, 2009
+OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0002816 Genu recurvatum TAS TAS OMIM:184260 HPO:probinson Feb 17, 2009
+OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0002869 Flared iliac wings TAS TAS OMIM:184260 HPO:probinson Feb 17, 2009
+OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0002970 Genu varum TAS TAS OMIM:184260 HPO:probinson Feb 17, 2009
+OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0003026 Short long bones TAS TAS OMIM:184260 HPO:probinson Feb 17, 2009
+OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0003027 Mesomelia TAS TAS OMIM:184260 HPO:probinson Feb 17, 2009
+OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0003171 Horizontal acetabular roof TAS TAS OMIM:184260 HPO:probinson Feb 17, 2009
+OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0003417 Coronal cleft vertebrae HP:0003623 Neonatal onset TAS TAS OMIM:184260 HPO:probinson Feb 17, 2009
+OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0004322 Short stature TAS TAS OMIM:184260 HPO:probinson Feb 17, 2009
+OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0004625 Biconvex vertebral bodies TAS TAS OMIM:184260 HPO:probinson Feb 17, 2009
+OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0009803 Short phalanx of finger TAS TAS OMIM:184260 HPO:probinson Feb 17, 2009
+OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0010049 Short metacarpal TAS TAS OMIM:184260 HPO:probinson Feb 17, 2009
+OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0010230 Cone-shaped epiphyses of the phalanges of the hand TAS TAS OMIM:184260 HPO:probinson Feb 17, 2009
+OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0010582 Irregular epiphyses TAS TAS OMIM:184260 HPO:probinson Jun 18, 2012
+OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0010585 Small epiphyses TAS TAS OMIM:184260 HPO:probinson Jun 18, 2012
+OMIM:184260 184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA;;GOLDBLATT SYNDROME;;ODONTOCHONDRODYSPLASIA; ODCD HP:0011220 Prominent forehead TAS TAS OMIM-CS:HEAD AND NECK_FACE > PROMINENT FOREHEAD OMIM:184260 HPO:skoehler Oct 17, 2012
+OMIM:184260 184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA;;GOLDBLATT SYNDROME;;ODONTOCHONDRODYSPLASIA; ODCD HP:0002657 Spondylometaphyseal dysplasia TAS TAS Disease name contained:184260 spondylometaphyseal dysplasia with dentinogenesis OMIM:184260 HPO:skoehler Jan 27, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-250250.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-250250.tab 2015-02-22 11:38:18 UTC (rev 5305)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-250250.tab 2015-02-22 17:39:34 UTC (rev 5306)
@@ -1,33 +1,32 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0000007 Autosomal recessive inheritance IEA IEA MIM:250250 HPO Feb 17, 2009
-MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0100255 Metaphyseal dysplasia IEA IEA MIM:250250 HPO Feb 17, 2009
-MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0004279 Short palm IEA IEA MIM:250250 HPO Feb 17, 2009
-MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0001377 Limited elbow extension IEA IEA MIM:250250 HPO Feb 17, 2009
+MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0000007 Autosomal recessive inheritance TAS TAS MIM:250250 HPO:probinson Feb 17, 2009
+MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0100255 Metaphyseal dysplasia TAS TAS MIM:250250 HPO:probinson Feb 17, 2009
+MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0004279 Short palm TAS TAS MIM:250250 HPO:probinson Feb 17, 2009
+MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0001377 Limited elbow extension TAS TAS MIM:250250 HPO:probinson Feb 17, 2009
MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0001382 Joint hypermobility TAS TAS MIM:250250 HPO:skoehler Feb 17, 2009
-MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0001875 Neutropenia IEA IEA MIM:250250 HPO Feb 17, 2009
-MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0001888 Lymphopenia IEA IEA MIM:250250 HPO Feb 17, 2009
-MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0003347 Impaired lymphocyte transformation with phytohemagglutinin PCS PCS MIM:250250 HPO Feb 17, 2009
-MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0001972 Macrocytic anemia IEA IEA MIM:250250 HPO Feb 17, 2009
-MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0002024 Malabsorption IEA IEA MIM:250250 HPO Feb 17, 2009
-MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0002032 Esophageal atresia IEA IEA MIM:250250 HPO Feb 17, 2009
-MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0002251 Aganglionic megacolon IEA IEA MIM:250250 HPO Feb 17, 2009
-MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0002644 Abnormality of pelvic girdle bone morphology IEA IEA MIM:250250 HPO Feb 17, 2009
-MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0002665 Lymphoma PCS PCS Rare pmid:11124791 HPO Feb 17, 2009
-MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0002938 Lumbar hyperlordosis IEA IEA MIM:250250 HPO Feb 17, 2009
-MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0002650 Scoliosis IEA IEA Mild MIM:250250 HPO Feb 17, 2009
-MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0000248 Brachycephaly TAS TAS Occasional MIM:250250 HPO Feb 17, 2009
-MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0000535 Sparse eyebrow TAS TAS MIM:250250 HPO Feb 17, 2009
-MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0002213 Fine hair TAS TAS MIM:250250 HPO Feb 17, 2009
-MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0004804 Congenital hemolytic anemia IEA IEA MIM:250250 HPO Feb 17, 2009
-MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0004810 Congenital hypoplastic anemia IEA IEA MIM:250250 HPO Feb 17, 2009
-MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0005360 Susceptibility to chickenpox IEA IEA MIM:250250 HPO Feb 17, 2009
-MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0005374 Cellular immunodeficiency IEA IEA MIM:250250 HPO Feb 17, 2009
-MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0006589 Flaring of lower rib cage IEA IEA MIM:250250 HPO Feb 17, 2009
-MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0008069 Neoplasm of the skin TAS TAS MIM:250250 HPO Feb 17, 2009
-MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0008450 Narrow vertebral interpedicular distance IEA IEA MIM:250250 HPO Feb 17, 2009
-MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0008921 Neonatal short-limb short stature IEA IEA MIM:250250 HPO Feb 17, 2009
-MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0008070 Sparse hair TAS TAS MIM:250250 HPO Mar 1, 2012
-MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0002294 Fair hair TAS TAS MIM:250250 HPO Mar 1, 2012
-MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0000653 Sparse eyelashes TAS TAS MIM:250250 HPO Mar 1, 2012
-MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0007464 Sparse facial hair TAS TAS MIM:250250 HPO Mar 1, 2012
+MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0001875 Neutropenia TAS TAS MIM:250250 HPO:probinson Feb 17, 2009
+MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0001888 Lymphopenia TAS TAS MIM:250250 HPO:probinson Feb 17, 2009
+MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0003347 Impaired lymphocyte transformation with phytohemagglutinin PCS PCS MIM:250250 HPO:probinson Feb 17, 2009
+MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0001972 Macrocytic anemia TAS TAS MIM:250250 HPO:probinson Feb 17, 2009
+MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0002024 Malabsorption TAS TAS MIM:250250 HPO:probinson Feb 17, 2009
+MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0002032 Esophageal atresia TAS TAS MIM:250250 HPO:probinson Feb 17, 2009
+MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0002251 Aganglionic megacolon TAS TAS MIM:250250 HPO:probinson Feb 17, 2009
+MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0002644 Abnormality of pelvic girdle bone morphology IEA IEA MIM:250250 HPO:probinson Feb 17, 2009
+MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0002665 Lymphoma PCS PCS Rare pmid:11124791 HPO:probinson Feb 17, 2009
+MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0002938 Lumbar hyperlordosis TAS TAS MIM:250250 HPO:probinson Feb 17, 2009
+MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0002650 Scoliosis TAS TAS Mild MIM:250250 HPO:probinson Feb 17, 2009
+MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0000248 Brachycephaly TAS TAS Occasional MIM:250250 HPO:probinson Feb 17, 2009
+MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0000535 Sparse eyebrow TAS TAS MIM:250250 HPO:probinson Feb 17, 2009
+MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0002213 Fine hair TAS TAS MIM:250250 HPO:probinson Feb 17, 2009
+MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0004810 Congenital hypoplastic anemia TAS TAS MIM:250250 HPO:probinson Feb 17, 2009
+MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0005360 Susceptibility to chickenpox TAS TAS MIM:250250 HPO:probinson Feb 17, 2009
+MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0005374 Cellular immunodeficiency TAS TAS MIM:250250 HPO:probinson Feb 17, 2009
+MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0006589 Flaring of lower rib cage TAS TAS MIM:250250 HPO:probinson Feb 17, 2009
+MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0008069 Neoplasm of the skin TAS TAS MIM:250250 HPO:probinson Feb 17, 2009
+MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0008450 Narrow vertebral interpedicular distance TAS TAS MIM:250250 HPO:probinson Feb 17, 2009
+MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0008921 Neonatal short-limb short stature IEA IEA MIM:250250 HPO:probinson Feb 17, 2009
+MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0008070 Sparse hair TAS TAS MIM:250250 HPO:probinson Mar 1, 2012
+MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0002294 Fair hair TAS TAS MIM:250250 HPO:probinson Mar 1, 2012
+MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0000653 Sparse eyelashes TAS TAS MIM:250250 HPO:probinson Mar 1, 2012
+MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0007464 Sparse facial hair TAS TAS MIM:250250 HPO:probinson Mar 1, 2012
MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0008069 Neoplasm of the skin TAS TAS MIM:250250 HPO:probinson Apr 1, 2013
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-271550.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-271550.tab 2015-02-22 11:38:18 UTC (rev 5305)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-271550.tab 2015-02-22 17:39:34 UTC (rev 5306)
@@ -1,14 +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:271550 SPONDYLOENCHONDRODYSPLASIA HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:271550 HPO 17.02.2009
-OMIM:271550 SPONDYLOENCHONDRODYSPLASIA HP:0000926 Platyspondyly IEA IEA OMIM:271550 HPO 17.02.2009
-OMIM:271550 SPOND...
[truncated message content] |
|
From: <pr...@us...> - 2015-02-22 11:38:30
|
Revision: 5305
http://sourceforge.net/p/obo/svn/5305
Author: probins
Date: 2015-02-22 11:38:18 +0000 (Sun, 22 Feb 2015)
Log Message:
-----------
Revised annotations for the short rib group
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-225500.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-258860.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-263520.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-269860.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613091.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-225500.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-225500.tab 2015-02-21 10:09:04 UTC (rev 5304)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-225500.tab 2015-02-22 11:38:18 UTC (rev 5305)
@@ -1,29 +1,30 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:225500 HPO 17.02.2009
-OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0000028 Cryptorchidism IEA IEA OMIM:225500 HPO 17.02.2009
-OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0000039 Epispadias IEA IEA OMIM:225500 HPO 17.02.2009
-OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0000047 Hypospadias IEA IEA OMIM:225500 HPO 17.02.2009
-OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0000204 Cleft upper lip IEA IEA OMIM:225500 HPO:skoehler 20.06.2010
-OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0000668 Hypodontia IEA IEA OMIM:225500 HPO 17.02.2009
-OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0000684 Delayed eruption of teeth IEA IEA OMIM:225500 HPO 17.02.2009
-OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0000695 Natal tooth IEA IEA OMIM:225500 HPO 17.02.2009
-OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0000768 Pectus carinatum IEA IEA OMIM:225500 HPO 17.02.2009
-OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0000773 Short ribs TAS TAS OMIM:225500 HPO:probinson 17.02.2009
-OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0000774 Narrow chest IEA IEA OMIM:225500 HPO 17.02.2009
-OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0001241 Capitate-hamate fusion IEA IEA OMIM:225500 HPO 17.02.2009
-OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0001249 Intellectual disability IEA IEA OMIM:225500 HPO 17.02.2009
-OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0001305 Dandy-Walker malformation IEA IEA OMIM:225500 HPO 17.02.2009
-OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0001631 Defect in the atrial septum IEA IEA OMIM:225500 HPO 17.02.2009
-OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0002164 Nail dysplasia IEA IEA OMIM:225500 HPO 17.02.2009
-OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0002644 Abnormality of pelvic girdle bone morphology IEA IEA OMIM:225500 HPO 17.02.2009
-OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0002857 Genu valgum IEA IEA OMIM:225500 HPO 17.02.2009
-OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0006035 Cone-shaped epiphyses of phalanges 2 to 5 IEA IEA OMIM:225500 HPO 17.02.2009
-OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0006477 Abnormality of the alveolar ridges IEA IEA OMIM:225500 HPO 17.02.2009
-OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0008873 Disproportionate short-limb short stature TAS TAS OMIM:225500 HPO:probinson 17.02.2009
-OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0008921 Neonatal short-limb short stature IEA IEA OMIM:225500 HPO 17.02.2009
-OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0003026 Short long bones TAS TAS OMIM:225500 HPO:probinson 08.05.2012
-OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0001162 Postaxial polydactyly (hands) TAS TAS OMIM:225500 HPO:probinson 04.06.2012
-OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0001830 Postaxial polydactyly of foot TAS TAS OMIM:225500 HPO:probinson 04.06.2012
-OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0001762 Talipes equinovarus TAS TAS OMIM:225500 HPO:probinson 04.06.2012
-OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0000968 Ectodermal dysplasia TAS TAS OMIM:225500 HPO:skoehler 14.01.2015
-
+OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:225500 HPO:probinson Feb 17, 2009
+OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0000028 Cryptorchidism TAS TAS OMIM:225500 HPO:probinson Feb 17, 2009
+OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0000039 Epispadias TAS TAS OMIM:225500 HPO:probinson Feb 17, 2009
+OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0000047 Hypospadias TAS TAS OMIM:225500 HPO:probinson Feb 17, 2009
+OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0000204 Cleft upper lip TAS TAS Partial cleft lip OMIM:225500 HPO:skoehler Jun 20, 2010
+OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0000668 Hypodontia TAS TAS OMIM:225500 HPO:probinson Feb 17, 2009
+OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0000684 Delayed eruption of teeth TAS TAS OMIM:225500 HPO:probinson Feb 17, 2009
+OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0000695 Natal tooth TAS TAS OMIM:225500 HPO:probinson Feb 17, 2009
+OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0000768 Pectus carinatum TAS TAS OMIM:225500 HPO:probinson Feb 17, 2009
+OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0000773 Short ribs TAS TAS OMIM:225500 HPO:probinson Feb 17, 2009
+OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0000774 Narrow chest TAS TAS OMIM:225500 HPO:probinson Feb 17, 2009
+OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0001241 Capitate-hamate fusion TAS TAS OMIM:225500 HPO:probinson Feb 17, 2009
+OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0001249 Intellectual disability TAS TAS Occasional OMIM:225500 HPO:probinson Feb 17, 2009
+OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0001305 Dandy-Walker malformation TAS TAS OMIM:225500 HPO:probinson Feb 17, 2009
+OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0002164 Nail dysplasia TAS TAS OMIM:225500 HPO:probinson Feb 17, 2009
+OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0002857 Genu valgum TAS TAS OMIM:225500 HPO:probinson Feb 17, 2009
+OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0006035 Cone-shaped epiphyses of phalanges 2 to 5 TAS TAS OMIM:225500 HPO:probinson Feb 17, 2009
+OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0006477 Abnormality of the alveolar ridges TAS TAS OMIM:225500 HPO:probinson Feb 17, 2009
+OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0008873 Disproportionate short-limb short stature TAS TAS OMIM:225500 HPO:probinson Feb 17, 2009
+OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0008921 Neonatal short-limb short stature TAS TAS OMIM:225500 HPO:probinson Feb 17, 2009
+OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0003026 Short long bones TAS TAS OMIM:225500 HPO:probinson May 8, 2012
+OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0001162 Postaxial hand polydactyly TAS TAS OMIM:225500 HPO:probinson Jun 4, 2012
+OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0001830 Postaxial foot polydactyly TAS TAS OMIM:225500 HPO:probinson Jun 4, 2012
+OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0001762 Talipes equinovarus TAS TAS OMIM:225500 HPO:probinson Jun 4, 2012
+OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0000968 Ectodermal dysplasia TAS TAS OMIM:225500 HPO:skoehler Jan 14, 2015
+OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0001631 Defect in the atrial septum TAS TAS OMIM:225500 HPO:probinson Feb 22, 2015
+OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0011565 Common atrium TAS TAS OMIM:225500 HPO:probinson Feb 22, 2015
+OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0002866 Hypoplastic iliac wing TAS TAS OMIM:225500 HPO:probinson Feb 22, 2015
+OMIM:225500 ELLIS-VAN CREVELD SYNDROME HP:0010454 Acetabular spurs TAS TAS OMIM:225500 HPO:probinson Feb 22, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-258860.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-258860.tab 2015-02-21 10:09:04 UTC (rev 5304)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-258860.tab 2015-02-22 11:38:18 UTC (rev 5305)
@@ -1,22 +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:258860 OROFACIODIGITAL SYNDROME IV HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:258860 HPO 17.02.2009
-OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000156 High-arched palate IEA IEA OMIM:258860 HPO 17.02.2009
-OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000175 Cleft palate IEA IEA OMIM:258860 HPO 17.02.2009
-OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000180 Lobulated tongue IEA IEA OMIM:258860 HPO 17.02.2009
-OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000191 Accessory oral frenulum IEA IEA OMIM:258860 HPO 17.02.2009
-OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000199 Tongue nodules IEA IEA OMIM:258860 HPO 17.02.2009
-OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000286 Epicanthus IEA IEA OMIM:258860 HPO 17.02.2009
-OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000316 Hypertelorism IEA IEA OMIM:258860 HPO 17.02.2009
-OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000347 Micrognathia IEA IEA OMIM:258860 HPO 17.02.2009
-OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000369 Low-set ears IEA IEA OMIM:258860 HPO 17.02.2009
-OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000767 Pectus excavatum IEA IEA OMIM:258860 HPO 17.02.2009
-OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0001156 Brachydactyly IEA IEA OMIM:258860 HPO 17.02.2009
-OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0001547 Abnormality of the morphology or size of the rib cage IEA IEA OMIM:258860 HPO 17.02.2009
-OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0001770 Toe syndactyly IEA IEA OMIM:258860 HPO 17.02.2009
-OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0002059 Cerebral atrophy IEA IEA OMIM:258860 HPO 17.02.2009
-OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0002132 Porencephaly IEA IEA OMIM:258860 HPO 17.02.2009
-OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0004322 Short stature IEA IEA OMIM:258860 HPO 17.02.2009
-OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0005736 Hypoplastic tibia IEA IEA OMIM:258860 HPO 17.02.2009
-OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0009466 Radial deviation of finger IEA IEA OMIM:258860 HPO 17.02.2009
-OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0010442 Polydactyly IEA IEA OMIM:258860 HPO 17.02.2009
-OMIM:258860 #258860 OROFACIODIGITAL SYNDROME IV; OFD4;;OFDS IV;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE IV;;OFD SYNDROME WITH TIBIAL DEFECTS;;MOHR-MAJEWSKI SYNDROME;;OFD SYNDROME, BARAITSER-BURN TYPE;;BARAITSER-BURN SYNDROME HP:0030084 Clinodactyly IEA IEA OMIM-CS:SKELETAL_HANDS > CLINODACTYLY OMIM:258860 HPO:skoehler 21.09.2014
+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:258860 OROFACIODIGITAL SYNDROME IV HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:258860 HPO Feb 17, 2009
+OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000156 High-arched palate IEA IEA OMIM:258860 HPO Feb 17, 2009
+OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000175 Cleft palate IEA IEA OMIM:258860 HPO Feb 17, 2009
+OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000180 Lobulated tongue IEA IEA OMIM:258860 HPO Feb 17, 2009
+OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000191 Accessory oral frenulum TAS TAS OMIM:258860 HPO:probinson Feb 17, 2009
+OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000199 Tongue nodules TAS TAS OMIM:258860 HPO Feb 17, 2009
+OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000286 Epicanthus IEA IEA OMIM:258860 HPO Feb 17, 2009
+OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000316 Hypertelorism IEA IEA OMIM:258860 HPO Feb 17, 2009
+OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000347 Micrognathia IEA IEA OMIM:258860 HPO Feb 17, 2009
+OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000369 Low-set ears IEA IEA OMIM:258860 HPO Feb 17, 2009
+OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0000767 Pectus excavatum IEA IEA OMIM:258860 HPO Feb 17, 2009
+OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0001156 Brachydactyly syndrome IEA IEA OMIM:258860 HPO Feb 17, 2009
+OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0001547 Abnormality of the rib cage IEA IEA OMIM:258860 HPO Feb 17, 2009
+OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0001770 Toe syndactyly IEA IEA OMIM:258860 HPO Feb 17, 2009
+OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0002059 Cerebral atrophy IEA IEA OMIM:258860 HPO Feb 17, 2009
+OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0002132 Porencephaly IEA IEA OMIM:258860 HPO Feb 17, 2009
+OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0004322 Short stature IEA IEA OMIM:258860 HPO Feb 17, 2009
+OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0005736 Short tibia IEA IEA OMIM:258860 HPO Feb 17, 2009
+OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0009466 Radial deviation of finger IEA IEA OMIM:258860 HPO Feb 17, 2009
+OMIM:258860 #258860 OROFACIODIGITAL SYNDROME IV; OFD4;;OFDS IV;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE IV;;OFD SYNDROME WITH TIBIAL DEFECTS;;MOHR-MAJEWSKI SYNDROME;;OFD SYNDROME, BARAITSER-BURN TYPE;;BARAITSER-BURN SYNDROME HP:0030084 Clinodactyly IEA IEA OMIM-CS:SKELETAL_HANDS > CLINODACTYLY OMIM:258860 HPO:skoehler Sep 21, 2014
+OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0011802 Hamartoma of tongue PCS PCS pmid:22883145 HPO:probinson Feb 22, 2015
+OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0001161 Hand polydactyly TAS TAS OMIM:258860 HPO:probinson Feb 22, 2015
+OMIM:258860 OROFACIODIGITAL SYNDROME IV HP:0001829 Foot polydactyly TAS TAS OMIM:258860 HPO:probinson Feb 22, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-263520.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-263520.tab 2015-02-21 10:09:04 UTC (rev 5304)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-263520.tab 2015-02-22 11:38:18 UTC (rev 5305)
@@ -1,33 +1,33 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:263520 HPO 17.02.2009
-OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0000062 Ambiguous genitalia IEA IEA OMIM:263520 HPO 17.02.2009
-OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0000113 Polycystic kidney dysplasia IEA IEA OMIM:263520 HPO 17.02.2009
-OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0000161 Median cleft lip IEA IEA OMIM:263520 HPO 17.02.2009
-OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0000773 Short ribs IEA IEA OMIM:263520 HPO 17.02.2009
-OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0001162 Postaxial polydactyly (hands) IEA IEA OMIM:263520 HPO 17.02.2009
-OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0001177 Preaxial polydactyly (hands) IEA IEA OMIM:263520 HPO 17.02.2009
-OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0001302 Pachygyria IEA IEA OMIM:263520 HPO 17.02.2009
-OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0001320 Cerebellar vermis hypoplasia IEA IEA OMIM:263520 HPO 17.02.2009
-OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0001534 Genitourinary atresia IEA IEA OMIM:263520 HPO 17.02.2009
-OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0001789 Hydrops fetalis IEA IEA OMIM:263520 HPO 17.02.2009
-OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0002089 Pulmonary hypoplasia IEA IEA OMIM:263520 HPO 17.02.2009
-OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0002589 Gastrointestinal atresia IEA IEA OMIM:263520 HPO 17.02.2009
-OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0002983 Micromelia IEA IEA OMIM:263520 HPO 17.02.2009
-OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0005349 Hypoplasia of the epiglottis IEA IEA OMIM:263520 HPO 17.02.2009
-OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0005716 Lethal skeletal dysplasia IEA IEA OMIM:263520 HPO 17.02.2009
-OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0005766 Disproportionate shortening of the tibia IEA IEA OMIM:263520 HPO 17.02.2009
-OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0005817 Hallucal and postaxial polysyndactyly of the feet IEA IEA OMIM:263520 HPO 17.02.2009
-OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0100255 Metaphyseal dysplasia IEA IEA OMIM:263520 HPO 17.02.2009
-OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0005873 Polysyndactyly of great toe TAS TAS OMIM:263520 HPO:probinson 09.06.2012
-OMIM:263520 #263520 SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE II;;SRPS, TYPE II;;MAJEWSKI SYNDROME;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA; SRPS2A;;POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II HP:0002566 Intestinal malrotation IEA IEA rare OMIM-CS:ABDOMEN_GASTROINTESTINAL > INTESTINAL MALROTATION (IN SOME PATIENTS) OMIM:263520 HPO:skoehler 25.02.2014
-OMIM:263520 #263520 SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE II;;SRPS, TYPE II;;MAJEWSKI SYNDROME;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA; SRPS2A;;POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II HP:0001395 Hepatic fibrosis IEA IEA rare OMIM-CS:ABDOMEN_LIVER > HEPATIC FIBROSIS (RARE) OMIM:263520 HPO:skoehler 25.02.2014
-OMIM:263520 #263520 SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE II;;SRPS, TYPE II;;MAJEWSKI SYNDROME;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA; SRPS2A;;POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II HP:0100732 Pancreatic fibrosis IEA IEA rare OMIM-CS:ABDOMEN_LIVER > PANCREATIC FIBROSIS (RARE) OMIM:263520 HPO:skoehler 25.02.2014
-OMIM:263520 #263520 SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE II;;SRPS, TYPE II;;MAJEWSKI SYNDROME;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA; SRPS2A;;POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II HP:0001631 Defect in the atrial septum IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > ATRIAL SEPTAL DEFECT (RARE) OMIM:263520 HPO:skoehler 25.02.2014
-OMIM:263520 #263520 SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE II;;SRPS, TYPE II;;MAJEWSKI SYNDROME;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA; SRPS2A;;POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II HP:0001629 Ventricular septal defect IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > VENTRICULAR SEPTAL DEFECT (RARE) OMIM:263520 HPO:skoehler 25.02.2014
-OMIM:263520 #263520 SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE II;;SRPS, TYPE II;;MAJEWSKI SYNDROME;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA; SRPS2A;;POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II HP:0000774 Narrow chest IEA IEA OMIM-CS:CHEST_EXTERNAL FEATURES > NARROW THORAX OMIM:263520 HPO:skoehler 25.02.2014
-OMIM:263520 #263520 SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE II;;SRPS, TYPE II;;MAJEWSKI SYNDROME;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA; SRPS2A;;POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II HP:0000888 Horizontal ribs IEA IEA OMIM-CS:CHEST_RIBS, STERNUM, CLAVICLES, AND SCAPULAE > HORIZONTAL RIBS OMIM:263520 HPO:skoehler 25.02.2014
-OMIM:263520 #263520 SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE II;;SRPS, TYPE II;;MAJEWSKI SYNDROME;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA; SRPS2A;;POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II HP:0000054 Micropenis IEA IEA rare OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > MICROPENIS (IN SOME PATIENTS) OMIM:263520 HPO:skoehler 25.02.2014
-OMIM:263520 #263520 SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE II;;SRPS, TYPE II;;MAJEWSKI SYNDROME;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA; SRPS2A;;POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II HP:0000248 Brachycephaly IEA IEA rare OMIM-CS:HEAD AND NECK_HEAD > BRACHYCEPHALY (IN SOME PATIENTS) OMIM:263520 HPO:skoehler 25.02.2014
-OMIM:263520 #263520 SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE II;;SRPS, TYPE II;;MAJEWSKI SYNDROME;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA; SRPS2A;;POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II HP:0000171 Microglossia IEA IEA rare OMIM-CS:HEAD AND NECK_MOUTH > MICROGLOSSIA (RARE) OMIM:263520 HPO:skoehler 25.02.2014
-OMIM:263520 #263520 SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE II;;SRPS, TYPE II;;MAJEWSKI SYNDROME;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA; SRPS2A;;POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II HP:0006956 Dilation of lateral ventricles IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DILATION OF LATERAL VENTRICLES (IN SOME PATIENTS) OMIM:263520 HPO:skoehler 25.02.2014
-OMIM:263520 #263520 SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE II;;SRPS, TYPE II;;MAJEWSKI SYNDROME;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA; SRPS2A;;POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II HP:0006644 Thoracic dysplasia IEA IEA Disease name contained:#263520 short-rib thoracic dysplasia 6 with or without p OMIM:263520 HPO:skoehler 27.01.2015
+OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:263520 HPO:probinson Feb 17, 2009
+OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0000062 Ambiguous genitalia TAS TAS OMIM:263520 HPO:probinson Feb 17, 2009
+OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0000113 Polycystic kidney dysplasia TAS TAS OMIM:263520 HPO:probinson Feb 17, 2009
+OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0000161 Median cleft lip TAS TAS OMIM:263520 HPO:probinson Feb 17, 2009
+OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0000773 Short ribs TAS TAS OMIM:263520 HPO:probinson Feb 17, 2009
+OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0001162 Postaxial hand polydactyly TAS TAS OMIM:263520 HPO:probinson Feb 17, 2009
+OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0001177 Preaxial hand polydactyly TAS TAS OMIM:263520 HPO:probinson Feb 17, 2009
+OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0001302 Pachygyria TAS TAS rare OMIM:263520 HPO:probinson Feb 17, 2009
+OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0001320 Cerebellar vermis hypoplasia TAS TAS rare OMIM:263520 HPO:probinson Feb 17, 2009
+OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0001789 Hydrops fetalis TAS TAS OMIM:263520 HPO:probinson Feb 17, 2009
+OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0002089 Pulmonary hypoplasia TAS TAS OMIM:263520 HPO:probinson Feb 17, 2009
+OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0005349 Hypoplasia of the epiglottis TAS TAS OMIM:263520 HPO:probinson Feb 17, 2009
+OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0005766 Disproportionate shortening of the tibia TAS TAS OMIM:263520 HPO:probinson Feb 17, 2009
+OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0005817 Postaxial polysyndactyly of foot TAS TAS OMIM:263520 HPO:probinson Feb 17, 2009
+OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0005873 Polysyndactyly of hallux TAS TAS OMIM:263520 HPO:probinson Jun 9, 2012
+OMIM:263520 #263520 SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE II;;SRPS, TYPE II;;MAJEWSKI SYNDROME;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA; SRPS2A;;POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II HP:0002566 Intestinal malrotation TAS TAS rare OMIM-CS:ABDOMEN_GASTROINTESTINAL > INTESTINAL MALROTATION (IN SOME PATIENTS) OMIM:263520 HPO:skoehler Feb 25, 2014
+OMIM:263520 #263520 SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE II;;SRPS, TYPE II;;MAJEWSKI SYNDROME;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA; SRPS2A;;POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II HP:0001395 Hepatic fibrosis TAS TAS rare OMIM-CS:ABDOMEN_LIVER > HEPATIC FIBROSIS (RARE) OMIM:263520 HPO:skoehler Feb 25, 2014
+OMIM:263520 #263520 SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE II;;SRPS, TYPE II;;MAJEWSKI SYNDROME;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA; SRPS2A;;POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II HP:0001631 Defect in the atrial septum TAS TAS rare OMIM-CS:CARDIOVASCULAR_HEART > ATRIAL SEPTAL DEFECT (RARE) OMIM:263520 HPO:skoehler Feb 25, 2014
+OMIM:263520 #263520 SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE II;;SRPS, TYPE II;;MAJEWSKI SYNDROME;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA; SRPS2A;;POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II HP:0001629 Ventricular septal defect TAS TAS rare OMIM-CS:CARDIOVASCULAR_HEART > VENTRICULAR SEPTAL DEFECT (RARE) OMIM:263520 HPO:skoehler Feb 25, 2014
+OMIM:263520 #263520 SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE II;;SRPS, TYPE II;;MAJEWSKI SYNDROME;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA; SRPS2A;;POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II HP:0000774 Narrow chest TAS TAS OMIM-CS:CHEST_EXTERNAL FEATURES > NARROW THORAX OMIM:263520 HPO:skoehler Feb 25, 2014
+OMIM:263520 #263520 SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE II;;SRPS, TYPE II;;MAJEWSKI SYNDROME;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA; SRPS2A;;POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II HP:0000888 Horizontal ribs TAS TAS OMIM-CS:CHEST_RIBS, STERNUM, CLAVICLES, AND SCAPULAE > HORIZONTAL RIBS OMIM:263520 HPO:skoehler Feb 25, 2014
+OMIM:263520 #263520 SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE II;;SRPS, TYPE II;;MAJEWSKI SYNDROME;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA; SRPS2A;;POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II HP:0000054 Micropenis TAS TAS rare OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > MICROPENIS (IN SOME PATIENTS) OMIM:263520 HPO:skoehler Feb 25, 2014
+OMIM:263520 #263520 SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE II;;SRPS, TYPE II;;MAJEWSKI SYNDROME;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA; SRPS2A;;POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II HP:0000248 Brachycephaly TAS TAS rare OMIM-CS:HEAD AND NECK_HEAD > BRACHYCEPHALY (IN SOME PATIENTS) OMIM:263520 HPO:skoehler Feb 25, 2014
+OMIM:263520 #263520 SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE II;;SRPS, TYPE II;;MAJEWSKI SYNDROME;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA; SRPS2A;;POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II HP:0000171 Microglossia TAS TAS rare OMIM-CS:HEAD AND NECK_MOUTH > MICROGLOSSIA (RARE) OMIM:263520 HPO:skoehler Feb 25, 2014
+OMIM:263520 #263520 SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE II;;SRPS, TYPE II;;MAJEWSKI SYNDROME;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA; SRPS2A;;POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II HP:0006956 Dilation of lateral ventricles TAS TAS rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DILATION OF LATERAL VENTRICLES (IN SOME PATIENTS) OMIM:263520 HPO:skoehler Feb 25, 2014
+OMIM:263520 #263520 SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE II;;SRPS, TYPE II;;MAJEWSKI SYNDROME;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA; SRPS2A;;POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II HP:0006644 Thoracic dysplasia IEA IEA Disease name contained:#263520 short-rib thoracic dysplasia 6 with or without p OMIM:263520 HPO:skoehler Jan 27, 2015
+OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0010984 Digenic inheritance TAS TAS OMIM:263520 HPO:probinson Feb 22, 2015
+OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0000175 Cleft palate TAS TAS OMIM:263520 HPO:probinson Feb 22, 2015
+OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0011802 Hamartoma of tongue TAS TAS OMIM:263520 HPO:probinson Feb 22, 2015
+OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0001600 Abnormality of the larynx TAS TAS OMIM:263520 HPO:probinson Feb 22, 2015
+OMIM:263520 #263520 SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE II;;SRPS, TYPE II;;MAJEWSKI SYNDROME;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA; SRPS2A;;POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II HP:0000895 Hooked clavicles TAS TAS OMIM-CS:CHEST_RIBS, STERNUM, CLAVICLES, AND SCAPULAE > HORIZONTAL RIBS OMIM:263520 HPO:skoehler Feb 22, 2015
+OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II HP:0003026 Short long bones TAS TAS OMIM:263520 HPO:probinson Feb 22, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-269860.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-269860.tab 2015-02-21 10:09:04 UTC (rev 5304)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-269860.tab 2015-02-22 11:38:18 UTC (rev 5305)
@@ -1,60 +1,57 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:269860 HPO 17.02.2009
-OMIM:269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV HP:0000800 Cystic renal dysplasia TAS TAS OMIM:269860 HPO:probinson 17.02.2009
-OMIM:269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV HP:0000161 Median cleft lip TAS TAS OMIM:269860 HPO:probinson 17.02.2009
-OMIM:269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV HP:0000528 Anophthalmia IEA IEA OMIM:269860 HPO 17.02.2009
-OMIM:269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV HP:0000707 Abnormality of the nervous system IEA IEA OMIM:269860 HPO 17.02.2009
-OMIM:269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV HP:0000773 Short ribs IEA IEA OMIM:269860 HPO 17.02.2009
-OMIM:269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV HP:0000774 Narrow chest IEA IEA OMIM:269860 HPO 17.02.2009
-OMIM:269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV HP:0000800 Cystic renal dysplasia IEA IEA OMIM:269860 HPO 17.02.2009
-OMIM:269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV HP:0000954 Single transverse palmar crease IEA IEA OMIM:269860 HPO 17.02.2009
-OMIM:269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV HP:0000969 Edema IEA IEA OMIM:269860 HPO 17.02.2009
-OMIM:269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV HP:0001195 Single umbilical artery IEA IEA OMIM:269860 HPO 17.02.2009
-OMIM:269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV HP:0001395 Hepatic fibrosis IEA IEA OMIM:269860 HPO:skoehler 20.06.2010
-OMIM:269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV HP:0001405 Periportal fibrosis TAS TAS OMIM:269860 HPO:probinson 17.02.2009
-OMIM:269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV HP:0001541 Ascites IEA IEA OMIM:269860 HPO 17.02.2009
-OMIM:269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV HP:0001737 Pancreatic cysts IEA IEA OMIM:269860 HPO 17.02.2009
-OMIM:269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV HP:0002089 Pulmonary hypoplasia IEA IEA OMIM:269860 HPO 17.02.2009
-OMIM:269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV HP:0002093 Respiratory insufficiency IEA IEA OMIM:269860 HPO 17.02.2009
-OMIM:269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV HP:0003811 Neonatal death IEA IEA OMIM:269860 HPO 17.02.2009
-OMIM:269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV HP:0005209 Intrahepatic bile duct cysts IEA IEA OMIM:269860 HPO 17.02.2009
-OMIM:269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV HP:0008501 Median cleft lip and palate TAS TAS OMIM:269860 HPO:probinson 17.02.2009
-OMIM:269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV HP:0008702 Absent internal genitalia IEA IEA OMIM:269860 HPO 17.02.2009
-OMIM:269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV HP:0009826 Hypoplasia involving bones of the extremities TAS TAS OMIM:269860 HPO:probinson 03.06.2012
-OMIM:269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV HP:0006488 Bowing of the arm TAS TAS OMIM:269860 HPO:probinson 03.06.2012
-OMIM:269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV HP:0002979 Bowing of the legs TAS TAS OMIM:269860 HPO:probinson 03.06.2012
-OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0000023 Inguinal hernia IEA IEA OMIM-CS:ABDOMEN_EXTERNAL FEATURES > INGUINAL HERNIA OMIM:269860 HPO:skoehler 24.06.2014
-OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0001539 Omphalocele IEA IEA OMIM-CS:ABDOMEN_EXTERNAL FEATURES > OMPHALOCELE OMIM:269860 HPO:skoehler 24.06.2014
-OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0001538 Protuberant abdomen IEA IEA OMIM-CS:ABDOMEN_EXTERNAL FEATURES > PROTUBERANT ABDOMEN OMIM:269860 HPO:skoehler 24.06.2014
-OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0002566 Intestinal malrotation IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > MALROTATION OMIM:269860 HPO:skoehler 24.06.2014
-OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0001655 Patent foramen ovale IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > PATENT FORAMEN OVALE OMIM:269860 HPO:skoehler 24.06.2014
-OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0001629 Ventricular septal defect IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > VENTRICULAR SEPTAL DEFECT OMIM:269860 HPO:skoehler 24.06.2014
-OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0001643 Patent ductus arteriosus IEA IEA OMIM-CS:CARDIOVASCULAR_VASCULAR > PATENT DUCTUS ARTERIOSUS OMIM:269860 HPO:skoehler 24.06.2014
-OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0002557 Hypoplastic nipples IEA IEA OMIM-CS:CHEST_EXTERNAL FEATURES > HYPOPLASTIC NIPPLES OMIM:269860 HPO:skoehler 24.06.2014
-OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0010306 Short thorax IEA IEA OMIM-CS:CHEST_EXTERNAL FEATURES > SHORT THORAX OMIM:269860 HPO:skoehler 24.06.2014
-OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0006610 Wide intermamillary distance IEA IEA OMIM-CS:CHEST_EXTERNAL FEATURES > WIDELY SPACED NIPPLES OMIM:269860 HPO:skoehler 24.06.2014
-OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0000888 Horizontal ribs IEA IEA OMIM-CS:CHEST_RIBS, STERNUM, CLAVICLES, AND SCAPULAE > HORIZONTAL RIBS OMIM:269860 HPO:skoehler 24.06.2014
-OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0000882 Hypoplastic scapulae IEA IEA OMIM-CS:CHEST_RIBS, STERNUM, CLAVICLES, AND SCAPULAE > SMALL SCAPULAE OMIM:269860 HPO:skoehler 24.06.2014
-OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0000062 Ambiguous genitalia IEA IEA OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > AMBIGUOUS GENITALIA OMIM:269860 HPO:skoehler 24.06.2014
-OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0000089 Renal hypoplasia IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > HYPOPLASTIC KIDNEYS OMIM:269860 HPO:skoehler 24.06.2014
-OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0001511 Intrauterine growth retardation IEA IEA OMIM-CS:GROWTH_OTHER > INTRAUTERINE GROWTH RETARDATION OMIM:269860 HPO:skoehler 24.06.2014
-OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0000369 Low-set ears IEA IEA OMIM-CS:HEAD AND NECK_EARS > LOW-SET EARS OMIM:269860 HPO:skoehler 24.06.2014
-OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0000377 Abnormality of the pinna IEA IEA OMIM-CS:HEAD AND NECK_EARS > MALFORMED EARS OMIM:269860 HPO:skoehler 24.06.2014
-OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0000358 Posteriorly rotated ears IEA IEA OMIM-CS:HEAD AND NECK_EARS > POSTERIORLY ROTATED EARS OMIM:269860 HPO:skoehler 24.06.2014
-OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0000286 Epicanthus IEA IEA OMIM-CS:HEAD AND NECK_EYES > EPICANTHAL FOLDS OMIM:269860 HPO:skoehler 24.06.2014
-OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0000316 Hypertelorism IEA IEA OMIM-CS:HEAD AND NECK_EYES > HYPERTELORISM OMIM:269860 HPO:skoehler 24.06.2014
-OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0012368 Flat face IEA IEA OMIM-CS:HEAD AND NECK_FACE > FLAT FACE OMIM:269860 HPO:skoehler 24.06.2014
-OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0000256 Macrocephaly IEA IEA OMIM-CS:HEAD AND NECK_HEAD > LARGE HEAD OMIM:269860 HPO:skoehler 24.06.2014
-OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0000180 Lobulated tongue IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > LOBULATED TONGUE OMIM:269860 HPO:skoehler 24.06.2014
-OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0000470 Short neck IEA IEA OMIM-CS:HEAD AND NECK_NECK > SHORT NECK OMIM:269860 HPO:skoehler 24.06.2014
-OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0000695 Natal tooth IEA IEA OMIM-CS:HEAD AND NECK_TEETH > NATAL TEETH OMIM:269860 HPO:skoehler 24.06.2014
-OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0002323 Anencephaly IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ANENCEPHALY OMIM:269860 HPO:skoehler 24.06.2014
-OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0001360 Holoprosencephaly IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HOLOPROSENCEPHALY OMIM:269860 HPO:skoehler 24.06.2014
-OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0000238 Hydrocephalus IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYDROCEPHALY OMIM:269860 HPO:skoehler 24.06.2014
-OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0001561 Polyhydramnios IEA IEA OMIM-CS:PRENATAL MANIFESTATIONS_AMNIOTIC FLUID > POLYHYDRAMNIOS OMIM:269860 HPO:skoehler 24.06.2014
-OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0001769 Broad foot IEA IEA OMIM-CS:SKELETAL_FEET > BROAD FEET OMIM:269860 HPO:skoehler 24.06.2014
-OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0001773 Short foot IEA IEA OMIM-CS:SKELETAL_FEET > SHORT FEET OMIM:269860 HPO:skoehler 24.06.2014
-OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0001169 Broad palm IEA IEA OMIM-CS:SKELETAL_HANDS > BROAD HANDS OMIM:269860 HPO:skoehler 24.06.2014
-OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0004279 Short palm IEA IEA OMIM-CS:SKELETAL_HANDS > SHORT HANDS OMIM:269860 HPO:skoehler 24.06.2014
-OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0003026 Short long bones IEA IEA OMIM-CS:SKELETAL_LIMBS > SHORT LONG BONES OMIM:269860 HPO:skoehler 24.06.2014
-OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0006644 Thoracic dysplasia IEA IEA Disease name contained:%269860 short-rib thoracic dysplasia 12; srtd12;;short r OMIM:269860 HPO:skoehler 27.01.2015
+OMIM:269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:269860 HPO:probinson Feb 17, 2009
+OMIM:269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV HP:0000800 Cystic renal dysplasia TAS TAS OMIM:269860 HPO:probinson Feb 17, 2009
+OMIM:269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV HP:0000161 Median cleft lip TAS TAS OMIM:269860 HPO:probinson Feb 17, 2009
+OMIM:269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV HP:0000773 Short ribs TAS TAS OMIM:269860 HPO:probinson Feb 17, 2009
+OMIM:269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV HP:0000774 Narrow chest TAS TAS OMIM:269860 HPO:probinson Feb 17, 2009
+OMIM:269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV HP:0001405 Periportal fibrosis TAS TAS OMIM:269860 HPO:probinson Feb 17, 2009
+OMIM:269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV HP:0001541 Ascites TAS TAS OMIM:269860 HPO:probinson Feb 17, 2009
+OMIM:269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV HP:0002089 Pulmonary hypoplasia TAS TAS OMIM:269860 HPO:probinson Feb 17, 2009
+OMIM:269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV HP:0002093 Respiratory insufficiency TAS TAS OMIM:269860 HPO:probinson Feb 17, 2009
+OMIM:269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV HP:0003811 Neonatal death TAS TAS OMIM:269860 HPO:probinson Feb 17, 2009
+OMIM:269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV HP:0008501 Median cleft lip and palate TAS TAS OMIM:269860 HPO:probinson Feb 17, 2009
+OMIM:269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV HP:0009826 Limb undergrowth TAS TAS OMIM:269860 HPO:probinson Jun 3, 2012
+OMIM:269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV HP:0006488 Bowing of the arm TAS TAS OMIM:269860 HPO:probinson Jun 3, 2012
+OMIM:269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV HP:0002979 Bowing of the legs TAS TAS OMIM:269860 HPO:probinson Jun 3, 2012
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0000023 Inguinal hernia TAS TAS OMIM-CS:ABDOMEN_EXTERNAL FEATURES > INGUINAL HERNIA OMIM:269860 HPO:skoehler Jun 24, 2014
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0001539 Omphalocele TAS TAS OMIM-CS:ABDOMEN_EXTERNAL FEATURES > OMPHALOCELE OMIM:269860 HPO:skoehler Jun 24, 2014
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0001538 Protuberant abdomen TAS TAS OMIM-CS:ABDOMEN_EXTERNAL FEATURES > PROTUBERANT ABDOMEN OMIM:269860 HPO:skoehler Jun 24, 2014
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0002566 Intestinal malrotation TAS TAS OMIM-CS:ABDOMEN_GASTROINTESTINAL > MALROTATION OMIM:269860 HPO:skoehler Jun 24, 2014
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0001655 Patent foramen ovale TAS TAS OMIM-CS:CARDIOVASCULAR_HEART > PATENT FORAMEN OVALE OMIM:269860 HPO:skoehler Jun 24, 2014
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0001629 Ventricular septal defect TAS TAS OMIM-CS:CARDIOVASCULAR_HEART > VENTRICULAR SEPTAL DEFECT OMIM:269860 HPO:skoehler Jun 24, 2014
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0001643 Patent ductus arteriosus TAS TAS OMIM-CS:CARDIOVASCULAR_VASCULAR > PATENT DUCTUS ARTERIOSUS OMIM:269860 HPO:skoehler Jun 24, 2014
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0002557 Hypoplastic nipples TAS TAS OMIM-CS:CHEST_EXTERNAL FEATURES > HYPOPLASTIC NIPPLES OMIM:269860 HPO:skoehler Jun 24, 2014
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0010306 Short thorax TAS TAS OMIM-CS:CHEST_EXTERNAL FEATURES > SHORT THORAX OMIM:269860 HPO:skoehler Jun 24, 2014
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0006610 Wide intermamillary distance TAS TAS OMIM-CS:CHEST_EXTERNAL FEATURES > WIDELY SPACED NIPPLES OMIM:269860 HPO:skoehler Jun 24, 2014
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0000888 Horizontal ribs TAS TAS OMIM-CS:CHEST_RIBS, STERNUM, CLAVICLES, AND SCAPULAE > HORIZONTAL RIBS OMIM:269860 HPO:skoehler Jun 24, 2014
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0000882 Hypoplastic scapulae TAS TAS OMIM-CS:CHEST_RIBS, STERNUM, CLAVICLES, AND SCAPULAE > SMALL SCAPULAE OMIM:269860 HPO:skoehler Jun 24, 2014
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0000062 Ambiguous genitalia TAS TAS OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > AMBIGUOUS GENITALIA OMIM:269860 HPO:skoehler Jun 24, 2014
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0000089 Renal hypoplasia TAS TAS OMIM-CS:GENITOURINARY_KIDNEYS > HYPOPLASTIC KIDNEYS OMIM:269860 HPO:skoehler Jun 24, 2014
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0001511 Intrauterine growth retardation TAS TAS OMIM-CS:GROWTH_OTHER > INTRAUTERINE GROWTH RETARDATION OMIM:269860 HPO:skoehler Jun 24, 2014
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0000369 Low-set ears TAS TAS OMIM-CS:HEAD AND NECK_EARS > LOW-SET EARS OMIM:269860 HPO:skoehler Jun 24, 2014
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0000377 Abnormality of the pinna TAS TAS OMIM-CS:HEAD AND NECK_EARS > MALFORMED EARS OMIM:269860 HPO:skoehler Jun 24, 2014
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0000358 Posteriorly rotated ears TAS TAS OMIM-CS:HEAD AND NECK_EARS > POSTERIORLY ROTATED EARS OMIM:269860 HPO:skoehler Jun 24, 2014
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0000286 Epicanthus TAS TAS OMIM-CS:HEAD AND NECK_EYES > EPICANTHAL FOLDS OMIM:269860 HPO:skoehler Jun 24, 2014
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0000316 Hypertelorism TAS TAS OMIM-CS:HEAD AND NECK_EYES > HYPERTELORISM OMIM:269860 HPO:skoehler Jun 24, 2014
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0012368 Flat face TAS TAS OMIM-CS:HEAD AND NECK_FACE > FLAT FACE OMIM:269860 HPO:skoehler Jun 24, 2014
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0000256 Macrocephaly TAS TAS OMIM-CS:HEAD AND NECK_HEAD > LARGE HEAD OMIM:269860 HPO:skoehler Jun 24, 2014
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0000180 Lobulated tongue TAS TAS OMIM-CS:HEAD AND NECK_MOUTH > LOBULATED TONGUE OMIM:269860 HPO:skoehler Jun 24, 2014
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0000470 Short neck TAS TAS OMIM-CS:HEAD AND NECK_NECK > SHORT NECK OMIM:269860 HPO:skoehler Jun 24, 2014
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0000695 Natal tooth TAS TAS OMIM-CS:HEAD AND NECK_TEETH > NATAL TEETH OMIM:269860 HPO:skoehler Jun 24, 2014
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0002323 Anencephaly TAS TAS OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ANENCEPHALY OMIM:269860 HPO:skoehler Jun 24, 2014
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0001360 Holoprosencephaly TAS TAS OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HOLOPROSENCEPHALY OMIM:269860 HPO:skoehler Jun 24, 2014
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0000238 Hydrocephalus TAS TAS OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYDROCEPHALY OMIM:269860 HPO:skoehler Jun 24, 2014
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0001561 Polyhydramnios TAS TAS OMIM-CS:PRENATAL MANIFESTATIONS_AMNIOTIC FLUID > POLYHYDRAMNIOS OMIM:269860 HPO:skoehler Jun 24, 2014
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0001769 Broad foot TAS TAS OMIM-CS:SKELETAL_FEET > BROAD FEET OMIM:269860 HPO:skoehler Jun 24, 2014
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0001773 Short foot TAS TAS OMIM-CS:SKELETAL_FEET > SHORT FEET OMIM:269860 HPO:skoehler Jun 24, 2014
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0001169 Broad palm TAS TAS OMIM-CS:SKELETAL_HANDS > BROAD HANDS OMIM:269860 HPO:skoehler Jun 24, 2014
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0004279 Short palm TAS TAS OMIM-CS:SKELETAL_HANDS > SHORT HANDS OMIM:269860 HPO:skoehler Jun 24, 2014
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0003026 Short long bones TAS TAS OMIM-CS:SKELETAL_LIMBS > SHORT LONG BONES OMIM:269860 HPO:skoehler Jun 24, 2014
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0006644 Thoracic dysplasia IEA IEA Disease name contained:%269860 short-rib thoracic dysplasia 12; srtd12;;short r OMIM:269860 HPO:skoehler Jan 27, 2015
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0000348 High forehead TAS TAS OMIM:269860 HPO:skoehler Feb 22, 2015
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0011802 Hamartoma of tongue TAS TAS OMIM-CS:HEAD AND NECK_TEETH > NATAL TEETH OMIM:269860 HPO:skoehler Feb 22, 2015
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0100750 Atelectasis TAS TAS OMIM-CS:CHEST_EXTERNAL FEATURES > WIDELY SPACED NIPPLES OMIM:269860 HPO:skoehler Feb 22, 2015
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0002240 Hepatomegaly TAS TAS OMIM-CS:ABDOMEN_EXTERNAL FEATURES > INGUINAL HERNIA OMIM:269860 HPO:skoehler Feb 22, 2015
+OMIM:269860 %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE HP:0001744 Splenomegaly TAS TAS OMIM-CS:ABDOMEN_EXTERNAL FEATURES > INGUINAL HERNIA OMIM:269860 HPO:skoehler Feb 22, 2015
+OMIM:269860 %269860 SHORT-RI...
[truncated message content] |
|
From: <pr...@us...> - 2015-02-15 07:45:22
|
Revision: 5303
http://sourceforge.net/p/obo/svn/5303
Author: probins
Date: 2015-02-15 07:45:15 +0000 (Sun, 15 Feb 2015)
Log Message:
-----------
Removing 142100, it is a gene entry with no associated disease
Removed Paths:
-------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-142100.tab
Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-142100.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-142100.tab 2015-02-15 07:44:21 UTC (rev 5302)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-142100.tab 2015-02-15 07:45:15 UTC (rev 5303)
@@ -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:142100 HEMOGLOBIN--EPSILON LOCUS HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:142100 HPO 17.02.2009
-OMIM:142100 HEMOGLOBIN--EPSILON LOCUS HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:142100 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...> - 2015-02-15 07:44:29
|
Revision: 5302
http://sourceforge.net/p/obo/svn/5302
Author: probins
Date: 2015-02-15 07:44:21 +0000 (Sun, 15 Feb 2015)
Log Message:
-----------
Revising annotations
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137940.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-138990.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-140300.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-142000.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137940.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137940.tab 2015-02-15 07:26:26 UTC (rev 5301)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137940.tab 2015-02-15 07:44:21 UTC (rev 5302)
@@ -1,12 +1,12 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-MIM:137940 GLOMERULONEPHRITIS WITH SPARSE HAIR AND TELANGIECTASES HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009
-MIM:137940 GLOMERULONEPHRITIS WITH SPARSE HAIR AND TELANGIECTASES HP:0000083 Renal failure IEA IEA 17.02.2009
-MIM:137940 GLOMERULONEPHRITIS WITH SPARSE HAIR AND TELANGIECTASES HP:0000793 Membranoproliferative glomerulonephritis IEA IEA 17.02.2009
-MIM:137940 GLOMERULONEPHRITIS WITH SPARSE HAIR AND TELANGIECTASES HP:0001939 Abnormality of metabolism/homeostasis IEA IEA 17.02.2009
-MIM:137940 GLOMERULONEPHRITIS WITH SPARSE HAIR AND TELANGIECTASES HP:0000535 Sparse eyebrow IEA IEA 17.02.2009
-MIM:137940 GLOMERULONEPHRITIS WITH SPARSE HAIR AND TELANGIECTASES HP:0003758 Reduced subcutaneous adipose tissue IEA IEA 17.02.2009
-MIM:137940 GLOMERULONEPHRITIS WITH SPARSE HAIR AND TELANGIECTASES HP:0005598 Facial telangiectasia in butterfly midface distribution IEA IEA 17.02.2009
-MIM:137940 GLOMERULONEPHRITIS WITH SPARSE HAIR AND TELANGIECTASES HP:0007543 Epidermal hyperkeratosis IEA IEA 17.02.2009
-MIM:137940 GLOMERULONEPHRITIS WITH SPARSE HAIR AND TELANGIECTASES HP:0007621 Telangiectasia of extensor surfaces IEA IEA 17.02.2009
-MIM:137940 GLOMERULONEPHRITIS WITH SPARSE HAIR AND TELANGIECTASES HP:0008070 Sparse hair IEA IEA 17.02.2009
-MIM:137940 GLOMERULONEPHRITIS WITH SPARSE HAIR AND TELANGIECTASES HP:0000653 Sparse eyelashes IEA IEA 01.03.2012
+MIM:137940 GLOMERULONEPHRITIS WITH SPARSE HAIR AND TELANGIECTASES HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:137940 HPO:probinson Feb 17, 2009
+MIM:137940 GLOMERULONEPHRITIS WITH SPARSE HAIR AND TELANGIECTASES HP:0000083 Renal insufficiency TAS TAS OMIM:137940 HPO:probinson Feb 17, 2009
+MIM:137940 GLOMERULONEPHRITIS WITH SPARSE HAIR AND TELANGIECTASES HP:0000793 Membranoproliferative glomerulonephritis TAS TAS OMIM:137940 HPO:probinson Feb 17, 2009
+MIM:137940 GLOMERULONEPHRITIS WITH SPARSE HAIR AND TELANGIECTASES HP:0000535 Sparse eyebrow TAS TAS OMIM:137940 HPO:probinson Feb 17, 2009
+MIM:137940 GLOMERULONEPHRITIS WITH SPARSE HAIR AND TELANGIECTASES HP:0003758 Reduced subcutaneous adipose tissue TAS TAS OMIM:137940 HPO:probinson Feb 17, 2009
+MIM:137940 GLOMERULONEPHRITIS WITH SPARSE HAIR AND TELANGIECTASES HP:0005598 Facial telangiectasia in butterfly midface distribution TAS TAS OMIM:137940 HPO:probinson Feb 17, 2009
+MIM:137940 GLOMERULONEPHRITIS WITH SPARSE HAIR AND TELANGIECTASES HP:0007543 Epidermal hyperkeratosis TAS TAS OMIM:137940 HPO:probinson Feb 17, 2009
+MIM:137940 GLOMERULONEPHRITIS WITH SPARSE HAIR AND TELANGIECTASES HP:0007621 Telangiectasia of extensor surfaces TAS TAS OMIM:137940 HPO:probinson Feb 17, 2009
+MIM:137940 GLOMERULONEPHRITIS WITH SPARSE HAIR AND TELANGIECTASES HP:0008070 Sparse hair TAS TAS OMIM:137940 HPO:probinson Feb 17, 2009
+MIM:137940 GLOMERULONEPHRITIS WITH SPARSE HAIR AND TELANGIECTASES HP:0000653 Sparse eyelashes TAS TAS OMIM:137940 HPO:probinson Mar 1, 2012
+MIM:137940 GLOMERULONEPHRITIS WITH SPARSE HAIR AND TELANGIECTASES HP:0000095 Abnormality of the glomerulus TAS TAS OMIM:137940 HPO:probinson Feb 15, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-138990.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-138990.tab 2015-02-15 07:26:26 UTC (rev 5301)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-138990.tab 2015-02-15 07:44:21 UTC (rev 5302)
@@ -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:138990 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL DOMINANT TYPE HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:138990 HPO 17.02.2009
-OMIM:138990 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL DOMINANT TYPE HP:0002715 Abnormality of the immune system IEA IEA OMIM:138990 HPO 17.02.2009
-OMIM:138990 138990 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL DOMINANT TYPE HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT FORM OMIM:138990 HPO:skoehler 29.05.2013
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:138990 138990 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL DOMINANT TYPE HP:0000006 Autosomal dominant inheritance TAS TAS OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT FORM OMIM:138990 HPO:skoehler May 29, 2013
+OMIM:138990 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL DOMINANT TYPE HP:0002955 Granulomatosis TAS TAS OMIM:138990 HPO:probinson Feb 15, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-140300.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-140300.tab 2015-02-15 07:26:26 UTC (rev 5301)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-140300.tab 2015-02-15 07:44:21 UTC (rev 5302)
@@ -1,4 +1,4 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:140300 HASHIMOTO THYROIDITIS HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:140300 HPO 17.02.2009
-OMIM:140300 HASHIMOTO THYROIDITIS HP:0000872 Hashimoto thyroiditis IEA IEA OMIM:140300 HPO 17.02.2009
-OMIM:140300 HASHIMOTO THYROIDITIS HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:140300 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:140300 HASHIMOTO THYROIDITIS HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:140300 HPO:probinson Feb 17, 2009
+OMIM:140300 HASHIMOTO THYROIDITIS HP:0000872 Hashimoto thyroiditis TAS TAS OMIM:140300 HPO:probinson Feb 17, 2009
+OMIM:140300 HASHIMOTO THYROIDITIS HP:0030057 Autoimmune antibody positivity TAS TAS OMIM:140300 HPO:probinson Feb 15, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-142000.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-142000.tab 2015-02-15 07:26:26 UTC (rev 5301)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-142000.tab 2015-02-15 07:44:21 UTC (rev 5302)
@@ -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:142000 HEMOGLOBIN--DELTA LOCUS HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:142000 HPO 17.02.2009
-OMIM:142000 HEMOGLOBIN--DELTA LOCUS HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:142000 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:142000 HEMOGLOBIN--DELTA LOCUS HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:142000 HPO Feb 17, 2009
+OMIM:142000 HEMOGLOBIN--DELTA LOCUS HP:0005560 Imbalanced hemoglobin synthesis TAS TAS OMIM:142000 HPO Feb 15, 2015
+OMIM:142000 HEMOGLOBIN--DELTA LOCUS HP:0001903 Anemia TAS TAS OMIM:142000 HPO Feb 15, 2015
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <pr...@us...> - 2015-02-15 07:26:29
|
Revision: 5301
http://sourceforge.net/p/obo/svn/5301
Author: probins
Date: 2015-02-15 07:26:26 +0000 (Sun, 15 Feb 2015)
Log Message:
-----------
Removing 137240, it is not a phenotype entry
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102700.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-131760.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-132300.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-134540.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137050.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-261400.tab
Removed Paths:
-------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137240.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102700.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102700.tab 2015-02-15 00:10:46 UTC (rev 5300)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102700.tab 2015-02-15 07:26:26 UTC (rev 5301)
@@ -1,9 +1,9 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:102700 HPO Feb 17, 2009
+OMIM:102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:102700 HPO:probinson Feb 17, 2009
OMIM:102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0000246 Sinusitis IEA IEA OMIM:102700 HPO Feb 17, 2009
OMIM:102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0000926 Platyspondyly IEA IEA OMIM:102700 HPO Feb 17, 2009
OMIM:102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0001442 Somatic mosaicism IEA IEA OMIM:102700 HPO Feb 17, 2009
-OMIM:102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0001508 Failure to thrive IEA IEA OMIM:102700 HPO Feb 17, 2009
+OMIM:102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0001508 Failure to thrive TAS TAS OMIM:102700 HPO:probinson Feb 17, 2009
OMIM:102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0000907 Anterior rib cupping IEA IEA OMIM:102700 HPO Feb 17, 2009
OMIM:102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0001744 Splenomegaly IEA IEA OMIM:102700 HPO Feb 17, 2009
OMIM:102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0001880 Eosinophilia IEA IEA OMIM:102700 HPO Feb 17, 2009
@@ -16,9 +16,9 @@
OMIM:102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0002099 Asthma IEA IEA OMIM:102700 HPO Feb 17, 2009
OMIM:102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0002240 Hepatomegaly IEA IEA OMIM:102700 HPO Feb 17, 2009
OMIM:102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0002644 Abnormality of pelvic girdle bone morphology IEA IEA OMIM:102700 HPO Feb 17, 2009
-OMIM:102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0002665 Lymphoma IEA IEA OMIM:102700 HPO:skoehler Jun 20, 2010
-OMIM:102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0003212 Increased IgE level IEA IEA OMIM:102700 HPO Feb 17, 2009
-OMIM:102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0005359 Aplasia of the thymus IEA IEA OMIM:102700 HPO Feb 17, 2009
+OMIM:102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0012191 B-cell lymphoma TAS TAS OMIM:102700 HPO:probinson Jun 20, 2010
+OMIM:102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0003212 Increased IgE level TAS TAS OMIM:102700 HPO:probinson Feb 17, 2009
+OMIM:102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0005359 Aplasia of the thymus TAS TAS OMIM:102700 HPO:probinson Feb 17, 2009
OMIM:102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0010976 B lymphocytopenia TAS TAS Severe OMIM:102700 HPO:probinson Feb 17, 2009
OMIM:102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0005424 Absent specific antibody response IEA IEA OMIM:102700 HPO Feb 17, 2009
OMIM:102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0004430 Severe combined immunodeficiency TAS TAS OMIM:102700 HPO:probinson Apr 26, 2012
@@ -26,4 +26,7 @@
OMIM:102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0004429 Recurrent viral infections TAS TAS OMIM:102700 HPO:probinson Apr 26, 2012
OMIM:102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0002841 Recurrent fungal infections TAS TAS OMIM:102700 HPO:probinson Apr 26, 2012
OMIM:102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0005365 Severe B lymphocytopenia IEA IEA OMIM:102700 HPO:skoehler Oct 9, 2012
-OMIM:102700 #102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY;;SCID DUE TO ADA DEFICIENCY;;ADA-SCID;;SCID DUE TO ADA DEFICIENCY, EARLY-ONSETSCID DUE TO ADA DEFICIENCY, DELAYED ONSET, INCLUDED;;SCID DUE TO ADA DEFICIENCY, LATE-ONSET, INCLUDED;;ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, INCLUDED;;PARTIAL ADA DEFICIENCY, INCLUDED HP:0012191 B-cell lymphoma IEA IEA OMIM-CS:NEOPLASIA > B-CELL LYMPHOMA OMIM:102700 HPO:skoehler 08.03.2013
+OMIM:102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0030273 Reduced red cell adenosine deaminase activity TAS TAS OMIM:102700 HPO:probinson Feb 15, 2015
+OMIM:102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0002720 IgA deficiency TAS TAS OMIM:102700 HPO:probinson Feb 15, 2015
+OMIM:102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0002850 IgM deficiency TAS TAS OMIM:102700 HPO:probinson Feb 15, 2015
+OMIM:102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0008348 Immunoglobulin IgG2 deficiency TAS TAS OMIM:102700 HPO:probinson Feb 15, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-131760.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-131760.tab 2015-02-15 00:10:46 UTC (rev 5300)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-131760.tab 2015-02-15 07:26:26 UTC (rev 5301)
@@ -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:131760 EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:131760 HPO 17.02.2009
-OMIM:131760 EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE HP:0000972 Palmoplantar hyperkeratosis IEA IEA OMIM:131760 HPO 17.02.2009
-OMIM:131760 EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE HP:0001056 Milia IEA IEA OMIM:131760 HPO 17.02.2009
-OMIM:131760 EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE HP:0001510 Growth delay IEA IEA OMIM:131760 HPO:skoehler 18.06.2010
-OMIM:131760 EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:131760 HPO 17.02.2009
-OMIM:131760 EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE HP:0002164 Nail dysplasia IEA IEA OMIM:131760 HPO:skoehler 18.06.2010
-OMIM:131760 EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE HP:0003623 Neonatal onset IEA IEA OMIM:131760 HPO 17.02.2009
-OMIM:131760 EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE HP:0008066 Abnormal blistering of the skin IEA IEA OMIM:131760 HPO:skoehler 20.06.2010
-OMIM:131760 #131760 EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE;;EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE;;EBS-DM HP:0008404 Nail dystrophy IEA IEA OMIM-CS:SKIN, NAILS, HAIR_NAILS > DYSTROPHIC NAILS OMIM:131760 HPO:skoehler 03.05.2013
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:131760 EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:131760 HPO:probinson Feb 17, 2009
+OMIM:131760 EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE HP:0000972 Palmoplantar hyperkeratosis TAS TAS OMIM:131760 HPO:probinson Feb 17, 2009
+OMIM:131760 EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE HP:0001056 Milia TAS TAS OMIM:131760 HPO:probinson Feb 17, 2009
+OMIM:131760 EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE HP:0001510 Growth delay TAS TAS OMIM:131760 HPO:skoehler Jun 18, 2010
+OMIM:131760 EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE HP:0002164 Nail dysplasia TAS TAS OMIM:131760 HPO:skoehler Jun 18, 2010
+OMIM:131760 EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE HP:0008066 Abnormal blistering of the skin TAS TAS OMIM:131760 HPO:skoehler Jun 20, 2010
+OMIM:131760 #131760 EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE;;EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE;;EBS-DM HP:0008404 Nail dystrophy TAS TAS OMIM-CS:SKIN, NAILS, HAIR_NAILS > DYSTROPHIC NAILS OMIM:131760 HPO:skoehler May 3, 2013
+OMIM:131760 EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE HP:0001075 Atrophic scars TAS TAS Rare OMIM:131760 HPO:skoehler Feb 15, 2015
+OMIM:131760 EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE HP:0003623 Neonatal onset TAS TAS OMIM:131760 HPO:probinson Feb 15, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-132300.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-132300.tab 2015-02-15 00:10:46 UTC (rev 5300)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-132300.tab 2015-02-15 07:26:26 UTC (rev 5301)
@@ -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:132300 EPILEPSY, READING HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:132300 HPO 17.02.2009
-OMIM:132300 EPILEPSY, READING HP:0000992 Cutaneous photosensitivity IEA IEA OMIM:132300 HPO:skoehler 20.06.2010
-OMIM:132300 EPILEPSY, READING HP:0001250 Seizures TAS TAS Provoked by reading OMIM:132300 HPO:probinson 17.02.2009
-OMIM:132300 EPILEPSY, READING HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:132300 HPO 17.02.2009
-OMIM:132300 EPILEPSY, READING HP:0011007 Age of onset IEA IEA OMIM:132300 HPO 17.02.2009
+OMIM:132300 EPILEPSY, READING HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:132300 HPO Feb 17, 2009
+OMIM:132300 EPILEPSY, READING HP:0001250 Seizures TAS TAS Provoked by reading OMIM:132300 HPO:probinson Feb 17, 2009
+OMIM:132300 EPILEPSY, READING HP:0003621 Juvenile onset TAS TAS OMIM:132300 HPO Feb 17, 2009
+OMIM:132300 EPILEPSY, READING HP:0002353 EEG abnormality TAS TAS Provoked by reading OMIM:132300 HPO:probinson Feb 15, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-134540.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-134540.tab 2015-02-15 00:10:46 UTC (rev 5300)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-134540.tab 2015-02-15 07:26:26 UTC (rev 5301)
@@ -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:134540 FACTOR IX AND FACTOR XI, COMBINED DEFICIENCY OF HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:134540 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:134540 FACTOR IX AND FACTOR XI, COMBINED DEFICIENCY OF HP:0011858 Reduced factor IX activity IEA IEA OMIM:134540 HPO:probinson Feb 15, 2015
+OMIM:134540 FACTOR IX AND FACTOR XI, COMBINED DEFICIENCY OF HP:0001929 Reduced factor XI activity IEA IEA OMIM:134540 HPO:probinson Feb 15, 2015
+OMIM:134540 FACTOR IX AND FACTOR XI, COMBINED DEFICIENCY OF HP:0000006 Autosomal dominant inheritance IEA IEA Uncertain OMIM:134540 HPO:probinson Feb 15, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137050.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137050.tab 2015-02-15 00:10:46 UTC (rev 5300)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137050.tab 2015-02-15 07:26:26 UTC (rev 5301)
@@ -1,4 +1,4 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:137050 GAMMA-A-GLOBULIN, DEFECT IN ASSEMBLY OF HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:137050 HPO 17.02.2009
-OMIM:137050 GAMMA-A-GLOBULIN, DEFECT IN ASSEMBLY OF HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:137050 HPO 17.02.2009
-OMIM:137050 GAMMA-A-GLOBULIN, DEFECT IN ASSEMBLY OF HP:0002205 Recurrent respiratory infections IEA IEA OMIM:137050 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:137050 GAMMA-A-GLOBULIN, DEFECT IN ASSEMBLY OF HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:137050 HPO:probinson Feb 17, 2009
+OMIM:137050 GAMMA-A-GLOBULIN, DEFECT IN ASSEMBLY OF HP:0002205 Recurrent respiratory infections TAS TAS OMIM:137050 HPO:probinson Feb 17, 2009
+OMIM:137050 GAMMA-A-GLOBULIN, DEFECT IN ASSEMBLY OF HP:0002720 IgA deficiency TAS TAS OMIM:137050 HPO:probinson Feb 15, 2015
Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137240.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137240.tab 2015-02-15 00:10:46 UTC (rev 5300)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137240.tab 2015-02-15 07:26:26 UTC (rev 5301)
@@ -1,4 +0,0 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:137240 GASTRIC INHIBITORY POLYPEPTIDE HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:137240 HPO 17.02.2009
-OMIM:137240 GASTRIC INHIBITORY POLYPEPTIDE HP:0000850 Cushing syndrome IEA IEA OMIM:137240 HPO:skoehler 20.06.2010
-OMIM:137240 GASTRIC INHIBITORY POLYPEPTIDE HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:137240 HPO 17.02.2009
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-261400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-261400.tab 2015-02-15 00:10:46 UTC (rev 5300)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-261400.tab 2015-02-15 07:26:26 UTC (rev 5301)
@@ -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:261400 PERONEUS TERTIUS MUSCLE, ABSENCE OF HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:261400 HPO 17.02.2009
-OMIM:261400 PERONEUS TERTIUS MUSCLE, ABSENCE OF HP:0003011 Abnormality of musculature IEA IEA OMIM:261400 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:261400 PERONEUS TERTIUS MUSCLE, ABSENCE OF HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:261400 HPO:probinson Feb 17, 2009
+OMIM:261400 PERONEUS TERTIUS MUSCLE, ABSENCE OF HP:0003011 Abnormality of the musculature IEA IEA OMIM:261400 HPO Feb 17, 2009
+OMIM:261400 PERONEUS TERTIUS MUSCLE, ABSENCE OF HP:0009027 Foot dorsiflexor weakness TAS TAS OMIM:261400 HPO:probinson Feb 3, 2015
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <cmu...@us...> - 2015-02-15 00:10:47
|
Revision: 5300
http://sourceforge.net/p/obo/svn/5300
Author: cmungall
Date: 2015-02-15 00:10:46 +0000 (Sun, 15 Feb 2015)
Log Message:
-----------
new-release
Added Paths:
-----------
uberon/releases/2015-02-14/
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <koe...@us...> - 2015-02-11 16:22:29
|
Revision: 5298
http://sourceforge.net/p/obo/svn/5298
Author: koehlers
Date: 2015-02-11 16:22:21 +0000 (Wed, 11 Feb 2015)
Log Message:
-----------
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-312600.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-312600.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-312600.tab 2015-02-03 06:52:07 UTC (rev 5297)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-312600.tab 2015-02-11 16:22:21 UTC (rev 5298)
@@ -1,5 +1,5 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:312600 RETINITIS PIGMENTOSA 2, X-LINKED HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:312600 HPO 17.02.2009
+OMIM:312600 RETINITIS PIGMENTOSA 2, X-LINKED HP:0001417 X-linked inheritance TAS TAS OMIM:312600 HPO:skoehler 11.02.2015
OMIM:312600 RETINITIS PIGMENTOSA 2, X-LINKED HP:0000510 Retinitis pigmentosa IEA IEA OMIM:312600 HPO 17.02.2009
OMIM:312600 RETINITIS PIGMENTOSA 2, X-LINKED HP:0000518 Cataract IEA IEA OMIM:312600 HPO 17.02.2009
OMIM:312600 RETINITIS PIGMENTOSA 2, X-LINKED HP:0000545 Myopia IEA IEA OMIM:312600 HPO:skoehler 20.06.2010
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <cmu...@us...> - 2015-02-03 06:52:14
|
Revision: 5297
http://sourceforge.net/p/obo/svn/5297
Author: cmungall
Date: 2015-02-03 06:52:07 +0000 (Tue, 03 Feb 2015)
Log Message:
-----------
new-release
Added Paths:
-----------
uberon/releases/2015-02-02/
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <pr...@us...> - 2015-02-02 06:07:59
|
Revision: 5295
http://sourceforge.net/p/obo/svn/5295
Author: probins
Date: 2015-02-02 06:07:51 +0000 (Mon, 02 Feb 2015)
Log Message:
-----------
More revisions of annotations
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-130070.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-131705.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-130070.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-130070.tab 2015-02-02 05:58:32 UTC (rev 5294)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-130070.tab 2015-02-02 06:07:51 UTC (rev 5295)
@@ -6,7 +6,6 @@
OMIM:130070 EHLERS-DANLOS SYNDROME, PROGEROID FORM HP:0000274 Small face IEA IEA OMIM:130070 HPO Feb 17, 2009
OMIM:130070 EHLERS-DANLOS SYNDROME, PROGEROID FORM HP:0000431 Wide nasal bridge IEA IEA OMIM:130070 HPO Feb 17, 2009
OMIM:130070 EHLERS-DANLOS SYNDROME, PROGEROID FORM HP:0000520 Proptosis IEA IEA OMIM:130070 HPO Feb 17, 2009
-OMIM:130070 EHLERS-DANLOS SYNDROME, PROGEROID FORM HP:0000598 Abnormality of the ear IEA IEA OMIM:130070 HPO Feb 17, 2009
OMIM:130070 EHLERS-DANLOS SYNDROME, PROGEROID FORM HP:0000774 Narrow chest IEA IEA OMIM:130070 HPO Feb 17, 2009
OMIM:130070 EHLERS-DANLOS SYNDROME, PROGEROID FORM HP:0000894 Short clavicles IEA IEA OMIM:130070 HPO Feb 17, 2009
OMIM:130070 EHLERS-DANLOS SYNDROME, PROGEROID FORM HP:0000938 Osteopenia IEA IEA OMIM:130070 HPO Feb 17, 2009
@@ -18,12 +17,11 @@
OMIM:130070 EHLERS-DANLOS SYNDROME, PROGEROID FORM HP:0001388 Joint laxity IEA IEA OMIM:130070 HPO Feb 17, 2009
OMIM:130070 EHLERS-DANLOS SYNDROME, PROGEROID FORM HP:0001508 Failure to thrive IEA IEA OMIM:130070 HPO Feb 17, 2009
OMIM:130070 EHLERS-DANLOS SYNDROME, PROGEROID FORM HP:0001763 Pes planus IEA IEA OMIM:130070 HPO Feb 17, 2009
-OMIM:130070 EHLERS-DANLOS SYNDROME, PROGEROID FORM HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:130070 HPO Feb 17, 2009
OMIM:130070 EHLERS-DANLOS SYNDROME, PROGEROID FORM HP:0002209 Sparse scalp hair IEA IEA OMIM:130070 HPO Feb 17, 2009
OMIM:130070 EHLERS-DANLOS SYNDROME, PROGEROID FORM HP:0002673 Coxa valga IEA IEA OMIM:130070 HPO Feb 17, 2009
OMIM:130070 EHLERS-DANLOS SYNDROME, PROGEROID FORM HP:0002974 Radioulnar synostosis IEA IEA OMIM:130070 HPO Feb 17, 2009
OMIM:130070 EHLERS-DANLOS SYNDROME, PROGEROID FORM HP:0004322 Short stature IEA IEA OMIM:130070 HPO Feb 17, 2009
OMIM:130070 EHLERS-DANLOS SYNDROME, PROGEROID FORM HP:0007469 Palmoplantar cutis gyrata IEA IEA OMIM:130070 HPO Feb 17, 2009
-OMIM:130070 #130070 EHLERS-DANLOS SYNDROME, PROGEROID FORM;;PROTEODERMATAN SULFATE, DEFECTIVE BIOSYNTHESIS OF;;PDS, DEFECTIVE BIOSYNTHESIS OF;;DERMATAN SULFATE PROTEOGLYCAN;;XYLOSYLPROTEIN 4-BETA-GALACTOSYLTRANSFERASE DEFICIENCY;;XGPT DEFICIENCY;;GALACTOSYLTRANSFERASE I DEFICIENCY HP:0009906 Aplasia/Hypoplasia of the earlobes IEA IEA OMIM-CS:HEAD AND NECK_EARS > ABSENT EAR LOBES OMIM:130070 HPO:skoehler May 31, 2013
OMIM:130070 #130070 EHLERS-DANLOS SYNDROME, PROGEROID FORM;;PROTEODERMATAN SULFATE, DEFECTIVE BIOSYNTHESIS OF;;PDS, DEFECTIVE BIOSYNTHESIS OF;;DERMATAN SULFATE PROTEOGLYCAN;;XYLOSYLPROTEIN 4-BETA-GALACTOSYLTRANSFERASE DEFICIENCY;;XGPT DEFICIENCY;;GALACTOSYLTRANSFERASE I DEFICIENCY HP:0011308 Slender toe TAS TAS OMIM:130070 HPO:skoehler Aug 10, 2013
OMIM:130070 #130070 EHLERS-DANLOS SYNDROME, PROGEROID FORM;;PROTEODERMATAN SULFATE, DEFECTIVE BIOSYNTHESIS OF;;PDS, DEFECTIVE BIOSYNTHESIS OF;;DERMATAN SULFATE PROTEOGLYCAN;;XYLOSYLPROTEIN 4-BETA-GALACTOSYLTRANSFERASE DEFICIENCY;;XGPT DEFICIENCY;;GALACTOSYLTRANSFERASE I DEFICIENCY HP:0010511 Long toe TAS TAS OMIM:130070 HPO:skoehler Aug 10, 2013
+OMIM:130070 EHLERS-DANLOS SYNDROME, PROGEROID FORM HP:0000387 Absent earlobe TAS TAS OMIM:130070 HPO:probinson Feb 2, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-131705.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-131705.tab 2015-02-02 05:58:32 UTC (rev 5294)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-131705.tab 2015-02-02 06:07:51 UTC (rev 5295)
@@ -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:131705 TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:131705 HPO 17.02.2009
-OMIM:131705 TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:131705 HPO 17.02.2009
-OMIM:131705 TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN HP:0001030 Fragile skin IEA IEA OMIM:131705 HPO 17.02.2009
-OMIM:131705 TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN HP:0001056 Milia IEA IEA OMIM:131705 HPO 17.02.2009
-OMIM:131705 TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:131705 HPO 17.02.2009
-OMIM:131705 TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN HP:0002164 Nail dysplasia IEA IEA OMIM:131705 HPO 17.02.2009
-OMIM:131705 TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN HP:0003577 Congenital onset IEA IEA OMIM:131705 HPO 17.02.2009
-OMIM:131705 #131705 TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN; TBDN;;EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL FORM;;DYSTROPHIC EPIDERMOLYSIS BULLOSA, NEONATAL HP:0008066 Abnormal blistering of the skin IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > BLISTERS OMIM:131705 HPO:skoehler 17.10.2012
-OMIM:131705 #131705 TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN; TBDN;;EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL FORM;;DYSTROPHIC EPIDERMOLYSIS BULLOSA, NEONATAL HP:0008404 Nail dystrophy IEA IEA OMIM-CS:SKIN, NAILS, HAIR_NAILS > NAIL DYSTROPHY OMIM:131705 HPO:skoehler 03.05.2013
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:131705 TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:131705 HPO:probinson Feb 17, 2009
+OMIM:131705 TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:131705 HPO:probinson Feb 17, 2009
+OMIM:131705 TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN HP:0001030 Fragile skin TAS TAS OMIM:131705 HPO:probinson Feb 17, 2009
+OMIM:131705 TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN HP:0001056 Milia TAS TAS OMIM:131705 HPO:probinson Feb 17, 2009
+OMIM:131705 TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:131705 HPO:probinson Feb 17, 2009
+OMIM:131705 TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN HP:0003577 Congenital onset TAS TAS OMIM:131705 HPO:probinson Feb 17, 2009
+OMIM:131705 #131705 TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN; TBDN;;EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL FORM;;DYSTROPHIC EPIDERMOLYSIS BULLOSA, NEONATAL HP:0008066 Abnormal blistering of the skin TAS TAS OMIM-CS:SKIN, NAILS, HAIR_SKIN > BLISTERS OMIM:131705 HPO:skoehler Oct 17, 2012
+OMIM:131705 #131705 TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN; TBDN;;EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL FORM;;DYSTROPHIC EPIDERMOLYSIS BULLOSA, NEONATAL HP:0008404 Nail dystrophy TAS TAS OMIM-CS:SKIN, NAILS, HAIR_NAILS > NAIL DYSTROPHY OMIM:131705 HPO:skoehler May 3, 2013
+OMIM:131705 TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN HP:0001075 Atrophic scars TAS TAS Mild OMIM:131705 HPO:probinson Feb 2, 2015
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|
|
From: <pr...@us...> - 2015-02-02 05:58:35
|
Revision: 5294
http://sourceforge.net/p/obo/svn/5294
Author: probins
Date: 2015-02-02 05:58:32 +0000 (Mon, 02 Feb 2015)
Log Message:
-----------
Removing 125950, Diazepam binding inhibitor, this is a gene entry with no associated disease
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125460.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125700.tab
Removed Paths:
-------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125950.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125460.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125460.tab 2015-02-02 05:53:12 UTC (rev 5293)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125460.tab 2015-02-02 05:58:32 UTC (rev 5294)
@@ -1,2 +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:125460 DEOXYRIBOSE-5-PHOSPHATE ALDOLASE DEFICIENCY HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:125460 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:125460 DEOXYRIBOSE-5-PHOSPHATE ALDOLASE DEFICIENCY HP:0012379 Abnormal enzyme/coenzyme activity IEA IEA OMIM:125460 HPO Feb 17, 2009
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125700.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125700.tab 2015-02-02 05:53:12 UTC (rev 5293)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125700.tab 2015-02-02 05:58:32 UTC (rev 5294)
@@ -1,9 +1,9 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:125700 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE HP:0000343 Long philtrum IEA IEA OMIM:125700 HPO Feb 17, 2009
-OMIM:125700 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE HP:0000863 Central diabetes insipidus IEA IEA OMIM:125700 HPO Feb 17, 2009
-OMIM:125700 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE HP:0000938 Osteopenia IEA IEA OMIM:125700 HPO Feb 17, 2009
-OMIM:125700 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:125700 HPO Feb 17, 2009
-OMIM:125700 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE HP:0002171 Gliosis IEA IEA OMIM:125700 HPO:skoehler Jun 20, 2010
+OMIM:125700 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE HP:0000343 Long philtrum TAS TAS OMIM:125700 HPO:probinson Feb 17, 2009
+OMIM:125700 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE HP:0000863 Central diabetes insipidus TAS TAS OMIM:125700 HPO:probinson Feb 17, 2009
+OMIM:125700 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE HP:0000938 Osteopenia TAS TAS OMIM:125700 HPO:probinson Feb 17, 2009
+OMIM:125700 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:125700 HPO:probinson Feb 17, 2009
+OMIM:125700 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE HP:0002171 Gliosis TAS TAS Mild hypothalamic gliosis OMIM:125700 HPO:skoehler Jun 20, 2010
OMIM:125700 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:125700 HPO:probinson Apr 25, 2012
OMIM:125700 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE HP:0003196 Short nose TAS TAS OMIM:125700 HPO:probinson Apr 25, 2012
OMIM:125700 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE HP:0000445 Wide nose TAS TAS OMIM:125700 HPO:probinson Apr 25, 2012
Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125950.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125950.tab 2015-02-02 05:53:12 UTC (rev 5293)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125950.tab 2015-02-02 05:58:32 UTC (rev 5294)
@@ -1,4 +0,0 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:125950 DIAZEPAM BINDING INHIBITOR HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:125950 HPO 17.02.2009
-OMIM:125950 DIAZEPAM BINDING INHIBITOR HP:0000707 Abnormality of the nervous system IEA IEA OMIM:125950 HPO 17.02.2009
-OMIM:125950 DIAZEPAM BINDING INHIBITOR HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:125950 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...> - 2015-02-02 05:53:15
|
Revision: 5293
http://sourceforge.net/p/obo/svn/5293
Author: probins
Date: 2015-02-02 05:53:12 +0000 (Mon, 02 Feb 2015)
Log Message:
-----------
Removing OMIM125450, it is a gene entry for DCK, a gene with no associated Mendelian disease
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-124480.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125260.tab
Removed Paths:
-------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125450.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-124480.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-124480.tab 2015-02-01 17:36:07 UTC (rev 5292)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-124480.tab 2015-02-02 05:53:12 UTC (rev 5293)
@@ -1,15 +1,13 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0000006 Autosomal dominant inheritance IEA IEA MIM:124480 HPO:skoehler Feb 17, 2009
-MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0001592 Selective tooth agenesis IEA IEA MIM:124480 HPO:skoehler Feb 17, 2009
+MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0000006 Autosomal dominant inheritance TAS TAS MIM:124480 HPO:skoehler Feb 17, 2009
+MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0001592 Selective tooth agenesis TAS TAS Occasional MIM:124480 HPO:skoehler Feb 17, 2009
MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0001770 Toe syndactyly TAS TAS MIM:124480 HPO:skoehler Feb 17, 2009
-MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0001939 Abnormality of metabolism/homeostasis IEA IEA MIM:124480 HPO:skoehler Feb 17, 2009
MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0007529 Hidrotic ectodermal dysplasia IEA IEA MIM:124480 HPO:skoehler Feb 17, 2009
MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0008404 Nail dystrophy TAS TAS MIM:124480 HPO:skoehler Feb 17, 2009
MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0001792 Small nail TAS TAS MIM:124480 HPO:probinson Mar 3, 2012
-MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0008404 Nail dystrophy TAS TAS MIM:124480 HPO:probinson Mar 3, 2012
OMIM:124480 %124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT; DDOD;;DDOD SYNDROME HP:0003577 Congenital onset TAS TAS OMIM:124480 HPO:skoehler Oct 17, 2012
OMIM:124480 %124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT; DDOD;;DDOD SYNDROME HP:0001798 Anonychia TAS TAS OMIM:124480 HPO:skoehler Oct 17, 2012
OMIM:124480 %124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT; DDOD;;DDOD SYNDROME HP:0001199 Triphalangeal thumb TAS TAS rare OMIM:124480 HPO:skoehler Nov 18, 2012
MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0000407 Sensorineural hearing impairment TAS TAS MIM:124480 HPO:probinson Dec 16, 2013
-OMIM:124480 %124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT; DDOD;;DDOD SYNDROME HP:0003812 Phenotypic variability IEA IEA OMIM-CS:MISCELLANEOUS > VARIABLE PHENOTYPE OMIM:124480 HPO:skoehler 28.01.2014
-OMIM:124480 %124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT; DDOD;;DDOD SYNDROME HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY OMIM:124480 HPO:skoehler 26.11.2014
+OMIM:124480 %124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT; DDOD;;DDOD SYNDROME HP:0001156 Brachydactyly syndrome TAS TAS OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY OMIM:124480 HPO:skoehler Nov 26, 2014
+MIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT HP:0000698 Conical tooth TAS TAS Occasional MIM:124480 HPO:probinson Feb 2, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125260.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125260.tab 2015-02-01 17:36:07 UTC (rev 5292)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125260.tab 2015-02-02 05:53:12 UTC (rev 5293)
@@ -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:125260 DEFECTIVE INTERFERING PARTICLE INDUCTION, CONTROL OF HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:125260 HPO 17.02.2009
-OMIM:125260 DEFECTIVE INTERFERING PARTICLE INDUCTION, CONTROL OF HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:125260 HPO 17.02.2009
-OMIM:125260 DEFECTIVE INTERFERING PARTICLE INDUCTION, CONTROL OF HP:0002715 Abnormality of the immune system IEA IEA OMIM:125260 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:125260 DEFECTIVE INTERFERING PARTICLE INDUCTION, CONTROL OF HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:125260 HPO Feb 17, 2009
+OMIM:125260 DEFECTIVE INTERFERING PARTICLE INDUCTION, CONTROL OF HP:0002715 Abnormality of the immune system IEA IEA OMIM:125260 HPO Feb 17, 2009
Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125450.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125450.tab 2015-02-01 17:36:07 UTC (rev 5292)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125450.tab 2015-02-02 05:53:12 UTC (rev 5293)
@@ -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:125450 DEOXYCYTIDINE KINASE HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:125450 HPO 17.02.2009
-OMIM:125450 DEOXYCYTIDINE KINASE HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:125450 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...> - 2015-02-01 17:36:16
|
Revision: 5292
http://sourceforge.net/p/obo/svn/5292
Author: probins
Date: 2015-02-01 17:36:07 +0000 (Sun, 01 Feb 2015)
Log Message:
-----------
Some new annotations
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-115080.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-115210.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-115300.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-116920.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-117300.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-123400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125595.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-250220.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-115080.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-115080.tab 2015-02-01 07:20:53 UTC (rev 5291)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-115080.tab 2015-02-01 17:36:07 UTC (rev 5292)
@@ -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:115080 CARDIAC CONDUCTION DEFECTSUDDEN CARDIAC DEATH, INCLUDED HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:115080 HPO 17.02.2009
-OMIM:115080 CARDIAC CONDUCTION DEFECTSUDDEN CARDIAC DEATH, INCLUDED HP:0001279 Syncope IEA IEA OMIM:115080 HPO 17.02.2009
-OMIM:115080 CARDIAC CONDUCTION DEFECTSUDDEN CARDIAC DEATH, INCLUDED HP:0001699 Sudden death IEA IEA OMIM:115080 HPO 17.02.2009
-OMIM:115080 CARDIAC CONDUCTION DEFECTSUDDEN CARDIAC DEATH, INCLUDED HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:115080 HPO 17.02.2009
-OMIM:115080 CARDIAC CONDUCTION DEFECTSUDDEN CARDIAC DEATH, INCLUDED HP:0011675 Arrhythmia IEA IEA OMIM:115080 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:115080 CARDIAC CONDUCTION DEFECTSUDDEN CARDIAC DEATH, INCLUDED HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:115080 HPO:probinson Feb 17, 2009
+OMIM:115080 CARDIAC CONDUCTION DEFECTSUDDEN CARDIAC DEATH, INCLUDED HP:0001279 Syncope TAS TAS OMIM:115080 HPO:probinson Feb 17, 2009
+OMIM:115080 CARDIAC CONDUCTION DEFECTSUDDEN CARDIAC DEATH, INCLUDED HP:0001699 Sudden death TAS TAS OMIM:115080 HPO:probinson Feb 17, 2009
+OMIM:115080 CARDIAC CONDUCTION DEFECTSUDDEN CARDIAC DEATH, INCLUDED HP:0011675 Arrhythmia TAS TAS OMIM:115080 HPO:probinson Feb 17, 2009
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-115210.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-115210.tab 2015-02-01 07:20:53 UTC (rev 5291)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-115210.tab 2015-02-01 17:36:07 UTC (rev 5292)
@@ -1,5 +1,4 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:115210 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:115210 HPO 17.02.2009
-OMIM:115210 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 HP:0001723 Restrictive cardiomyopathy IEA IEA OMIM:115210 HPO 17.02.2009
-OMIM:115210 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:115210 HPO 17.02.2009
-OMIM:115210 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 HP:0002119 Ventriculomegaly IEA IEA OMIM:115210 HPO:skoehler 20.06.2010
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:115210 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:115210 HPO Feb 17, 2009
+OMIM:115210 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 HP:0001723 Restrictive cardiomyopathy IEA IEA OMIM:115210 HPO Feb 17, 2009
+OMIM:115210 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 HP:0002119 Ventriculomegaly IEA IEA OMIM:115210 HPO:skoehler Jun 20, 2010
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-115300.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-115300.tab 2015-02-01 07:20:53 UTC (rev 5291)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-115300.tab 2015-02-01 17:36:07 UTC (rev 5292)
@@ -1,4 +1,4 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:115300 CAROTENEMIA, FAMILIAL HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:115300 HPO 17.02.2009
-OMIM:115300 CAROTENEMIA, FAMILIAL HP:0000951 Abnormality of the skin IEA IEA OMIM:115300 HPO 17.02.2009
-OMIM:115300 CAROTENEMIA, FAMILIAL HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:115300 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:115300 CAROTENEMIA, FAMILIAL HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:115300 HPO:probinson Feb 17, 2009
+OMIM:115300 CAROTENEMIA, FAMILIAL HP:0000951 Abnormality of the skin IEA IEA OMIM:115300 HPO Feb 17, 2009
+OMIM:115300 CAROTENEMIA, FAMILIAL HP:0004905 Vitamin A deficiency TAS TAS OMIM:115300 HPO:probinson Feb 1, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-116920.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-116920.tab 2015-02-01 07:20:53 UTC (rev 5291)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-116920.tab 2015-02-01 17:36:07 UTC (rev 5292)
@@ -1,9 +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:116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:116920 HPO 17.02.2009
-OMIM:116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I HP:0000230 Gingivitis IEA IEA OMIM:116920 HPO 17.02.2009
-OMIM:116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I HP:0000704 Periodontitis IEA IEA OMIM:116920 HPO 17.02.2009
-OMIM:116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:116920 HPO 17.02.2009
-OMIM:116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I HP:0005420 Recurrent staphylococcal and gram-negative infections IEA IEA OMIM:116920 HPO 17.02.2009
-OMIM:116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I HP:0007499 Recurrent staphylococcal infections TAS TAS OMIM:116920 HPO:probinson 26.04.2012
-OMIM:116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I HP:0001974 Leukocytosis TAS TAS Common OMIM:116920 HPO:probinson 26.04.2012
-OMIM:116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I HP:0005224 Rectal abscess TAS TAS OMIM:116920 HPO:probinson 26.04.2012
+OMIM:116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:116920 HPO:probinson Feb 17, 2009
+OMIM:116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I HP:0000230 Gingivitis TAS TAS OMIM:116920 HPO:probinson Feb 17, 2009
+OMIM:116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I HP:0000704 Periodontitis TAS TAS OMIM:116920 HPO:probinson Feb 17, 2009
+OMIM:116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I HP:0005420 Recurrent gram-negative bacterial infections TAS TAS OMIM:116920 HPO:probinson Feb 17, 2009
+OMIM:116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I HP:0007499 Recurrent staphylococcal infections TAS TAS OMIM:116920 HPO:probinson Apr 26, 2012
+OMIM:116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I HP:0001974 Leukocytosis TAS TAS Common OMIM:116920 HPO:probinson Apr 26, 2012
+OMIM:116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I HP:0005224 Rectal abscess TAS TAS OMIM:116920 HPO:probinson Apr 26, 2012
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-117300.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-117300.tab 2015-02-01 07:20:53 UTC (rev 5291)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-117300.tab 2015-02-01 17:36:07 UTC (rev 5292)
@@ -1,9 +1,11 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:117300 DEMENTIA, FAMILIAL DANISH HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:117300 HPO 17.02.2009
-OMIM:117300 DEMENTIA, FAMILIAL DANISH HP:0000365 Hearing impairment IEA IEA OMIM:117300 HPO 17.02.2009
-OMIM:117300 DEMENTIA, FAMILIAL DANISH HP:0000709 Psychosis IEA IEA OMIM:117300 HPO 17.02.2009
-OMIM:117300 DEMENTIA, FAMILIAL DANISH HP:0000726 Dementia IEA IEA OMIM:117300 HPO 17.02.2009
-OMIM:117300 DEMENTIA, FAMILIAL DANISH HP:0001115 Posterior polar cataract IEA IEA OMIM:117300 HPO 17.02.2009
-OMIM:117300 DEMENTIA, FAMILIAL DANISH HP:0001251 Ataxia IEA IEA OMIM:117300 HPO 17.02.2009
-OMIM:117300 DEMENTIA, FAMILIAL DANISH HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:117300 HPO 17.02.2009
-OMIM:117300 DEMENTIA, FAMILIAL DANISH HP:0002080 Intention tremor IEA IEA OMIM:117300 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:117300 DEMENTIA, FAMILIAL DANISH HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:117300 HPO:probinson Feb 17, 2009
+OMIM:117300 DEMENTIA, FAMILIAL DANISH HP:0000365 Hearing impairment TAS TAS OMIM:117300 HPO Feb 17, 2009
+OMIM:117300 DEMENTIA, FAMILIAL DANISH HP:0000709 Psychosis TAS TAS OMIM:117300 HPO Feb 17, 2009
+OMIM:117300 DEMENTIA, FAMILIAL DANISH HP:0000726 Dementia TAS TAS OMIM:117300 HPO Feb 17, 2009
+OMIM:117300 DEMENTIA, FAMILIAL DANISH HP:0001115 Posterior polar cataract TAS TAS OMIM:117300 HPO Feb 17, 2009
+OMIM:117300 DEMENTIA, FAMILIAL DANISH HP:0002080 Intention tremor TAS TAS OMIM:117300 HPO Feb 17, 2009
+OMIM:117300 DEMENTIA, FAMILIAL DANISH HP:0011970 Cerebral amyloid angiopathy PCS PCS pmid:20385796 HPO Feb 1, 2015
+OMIM:117300 DEMENTIA, FAMILIAL DANISH HP:0001257 Spasticity PCS PCS pmid:20385796 HPO Feb 1, 2015
+OMIM:117300 DEMENTIA, FAMILIAL DANISH HP:0001251 Ataxia PCS PCS pmid:20385796 HPO Feb 1, 2015
+OMIM:117300 DEMENTIA, FAMILIAL DANISH HP:0002185 Neurofibrillary tangles PCS PCS pmid:11895040 HPO Feb 1, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-123400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-123400.tab 2015-02-01 07:20:53 UTC (rev 5291)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-123400.tab 2015-02-01 17:36:07 UTC (rev 5292)
@@ -1,21 +1,22 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:123400 HPO Feb 17, 2009
-OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0000605 Supranuclear gaze palsy IEA IEA OMIM:123400 HPO Feb 17, 2009
-OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0000716 Depression IEA IEA OMIM:123400 HPO Feb 17, 2009
-OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0000726 Dementia IEA IEA OMIM:123400 HPO Feb 17, 2009
-OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0000737 Irritability IEA IEA OMIM:123400 HPO Feb 17, 2009
-OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0000738 Hallucinations IEA IEA OMIM:123400 HPO Feb 17, 2009
-OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0000739 Anxiety IEA IEA OMIM:123400 HPO Feb 17, 2009
-OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0000741 Apathy IEA IEA OMIM:123400 HPO Feb 17, 2009
-OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0000746 Delusions IEA IEA OMIM:123400 HPO Feb 17, 2009
-OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0000751 Personality changes IEA IEA OMIM:123400 HPO Feb 17, 2009
-OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0001269 Hemiparesis IEA IEA OMIM:123400 HPO Feb 17, 2009
-OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0001289 Confusion IEA IEA OMIM:123400 HPO Feb 17, 2009
-OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0001336 Myoclonus IEA IEA OMIM:123400 HPO Feb 17, 2009
-OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:123400 HPO Feb 17, 2009
-OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0002066 Gait ataxia IEA IEA OMIM:123400 HPO Feb 17, 2009
-OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0002354 Memory impairment IEA IEA OMIM:123400 HPO Feb 17, 2009
-OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0002381 Aphasia IEA IEA OMIM:123400 HPO Feb 17, 2009
-OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0003678 Rapidly progressive IEA IEA OMIM:123400 HPO Feb 17, 2009
-OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0005327 Loss of facial expression IEA IEA OMIM:123400 HPO Feb 17, 2009
-OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0007076 Extrapyramidal muscular rigidity IEA IEA OMIM:123400 HPO Feb 17, 2009
+OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:123400 HPO:probinson Feb 17, 2009
+OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0000605 Supranuclear gaze palsy TAS TAS OMIM:123400 HPO:probinson Feb 17, 2009
+OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0000716 Depression TAS TAS OMIM:123400 HPO Feb 17, 2009
+OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0000726 Dementia TAS TAS OMIM:123400 HPO Feb 17, 2009
+OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0000737 Irritability TAS TAS OMIM:123400 HPO Feb 17, 2009
+OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0000738 Hallucinations TAS TAS OMIM:123400 HPO Feb 17, 2009
+OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0000739 Anxiety TAS TAS OMIM:123400 HPO Feb 17, 2009
+OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0000741 Apathy TAS TAS OMIM:123400 HPO Feb 17, 2009
+OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0000746 Delusions TAS TAS OMIM:123400 HPO Feb 17, 2009
+OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0000751 Personality changes TAS TAS OMIM:123400 HPO Feb 17, 2009
+OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0001269 Hemiparesis TAS TAS OMIM:123400 HPO Feb 17, 2009
+OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0001289 Confusion TAS TAS OMIM:123400 HPO Feb 17, 2009
+OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0001336 Myoclonus TAS TAS OMIM:123400 HPO Feb 17, 2009
+OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0002066 Gait ataxia TAS TAS OMIM:123400 HPO:probinson Feb 17, 2009
+OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0002354 Memory impairment TAS TAS OMIM:123400 HPO Feb 17, 2009
+OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0002381 Aphasia TAS TAS OMIM:123400 HPO Feb 17, 2009
+OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0003678 Rapidly progressive TAS TAS OMIM:123400 HPO Feb 17, 2009
+OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0005327 Loss of facial expression TAS TAS OMIM:123400 HPO:probinson Feb 17, 2009
+OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0007076 Extrapyramidal muscular rigidity TAS TAS OMIM:123400 HPO:probinson Feb 17, 2009
+OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0000505 Visual impairment TAS TAS OMIM:123400 HPO:probinson Feb 1, 2015
+OMIM:123400 CREUTZFELDT-JAKOB DISEASE HP:0002922 Increased CSF protein TAS TAS Rare Mild OMIM:123400 HPO Feb 1, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125595.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125595.tab 2015-02-01 07:20:53 UTC (rev 5291)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125595.tab 2015-02-01 17:36:07 UTC (rev 5292)
@@ -1,11 +1,10 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:125595 DERMATOPATHIA PIGMENTOSA RETICULARIS HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:125595 HPO Feb 17, 2009
-OMIM:125595 DERMATOPATHIA PIGMENTOSA RETICULARIS HP:0011338 Abnormality of mouth shape IEA IEA OMIM:125595 HPO Feb 17, 2009
-OMIM:125595 DERMATOPATHIA PIGMENTOSA RETICULARIS HP:0000478 Abnormality of the eye IEA IEA OMIM:125595 HPO Feb 17, 2009
-OMIM:125595 DERMATOPATHIA PIGMENTOSA RETICULARIS HP:0000972 Palmoplantar hyperkeratosis IEA IEA OMIM:125595 HPO Feb 17, 2009
-OMIM:125595 DERMATOPATHIA PIGMENTOSA RETICULARIS HP:0002164 Nail dysplasia IEA IEA OMIM:125595 HPO Feb 17, 2009
-OMIM:125595 DERMATOPATHIA PIGMENTOSA RETICULARIS HP:0002293 Alopecia of scalp TAS TAS OMIM:125595 HPO Feb 17, 2009
-OMIM:125595 DERMATOPATHIA PIGMENTOSA RETICULARIS HP:0007455 Adermatoglyphia IEA IEA OMIM:125595 HPO Feb 17, 2009
-OMIM:125595 DERMATOPATHIA PIGMENTOSA RETICULARIS HP:0007550 Hypohidrosis/hyperhidrosis TAS TAS OMIM:125595 HPO Feb 17, 2009
-OMIM:125595 DERMATOPATHIA PIGMENTOSA RETICULARIS HP:0007588 Reticular hyperpigmentation IEA IEA OMIM:125595 HPO Feb 17, 2009
-OMIM:125595 #125595 DERMATOPATHIA PIGMENTOSA RETICULARIS; DPR HP:0008404 Nail dystrophy IEA IEA OMIM-CS:SKIN, NAILS, HAIR_NAILS > ONYCHODYSTROPHY OMIM:125595 HPO:skoehler 03.05.2013
+OMIM:125595 DERMATOPATHIA PIGMENTOSA RETICULARIS HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:125595 HPO:probinson Feb 17, 2009
+OMIM:125595 DERMATOPATHIA PIGMENTOSA RETICULARIS HP:0000972 Palmoplantar hyperkeratosis TAS TAS OMIM:125595 HPO:probinson Feb 17, 2009
+OMIM:125595 DERMATOPATHIA PIGMENTOSA RETICULARIS HP:0002293 Alopecia of scalp TAS TAS OMIM:125595 HPO:probinson Feb 17, 2009
+OMIM:125595 DERMATOPATHIA PIGMENTOSA RETICULARIS HP:0007455 Adermatoglyphia TAS TAS OMIM:125595 HPO:probinson Feb 17, 2009
+OMIM:125595 DERMATOPATHIA PIGMENTOSA RETICULARIS HP:0007550 Hypohidrosis or hyperhidrosis TAS TAS OMIM:125595 HPO:probinson Feb 17, 2009
+OMIM:125595 DERMATOPATHIA PIGMENTOSA RETICULARIS HP:0007588 Reticular hyperpigmentation TAS TAS OMIM:125595 HPO:probinson Feb 17, 2009
+OMIM:125595 #125595 DERMATOPATHIA PIGMENTOSA RETICULARIS; DPR HP:0008404 Nail dystrophy TAS TAS OMIM-CS:SKIN, NAILS, HAIR_NAILS > ONYCHODYSTROPHY OMIM:125595 HPO:skoehler May 3, 2013
+OMIM:125595 DERMATOPATHIA PIGMENTOSA RETICULARIS HP:0012788 Reticulate pigmentation of oral mucosa TAS TAS OMIM:125595 HPO:probinson Feb 1, 2015
+OMIM:125595 DERMATOPATHIA PIGMENTOSA RETICULARIS HP:0000502 Abnormality of the conjunctiva IEA IEA OMIM:125595 HPO Feb 1, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-250220.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-250220.tab 2015-02-01 07:20:53 UTC (rev 5291)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-250220.tab 2015-02-01 17:36:07 UTC (rev 5292)
@@ -1,41 +1,42 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:250220 HPO:probinson 17.02.2009
-OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0000262 Turricephaly TAS TAS OMIM:250220 HPO:probinson 17.02.2009
-OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0000358 Posteriorly rotated ears TAS TAS OMIM:250220 HPO:probinson 17.02.2009
-OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0000425 Flattened nasal bridge TAS TAS OMIM:250220 HPO:probinson 17.02.2009
-OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0000470 Short neck TAS TAS OMIM:250220 HPO:probinson 17.02.2009
-OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0000773 Short ribs TAS TAS OMIM:250220 HPO:probinson 17.02.2009
-OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0000774 Narrow chest TAS TAS OMIM:250220 HPO:skoehler 20.06.2010
-OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0000878 11 pairs of ribs TAS TAS OMIM:250220 HPO:probinson 17.02.2009
-OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0000887 Cupped ribs TAS TAS OMIM:250220 HPO:probinson 17.02.2009
-OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0000926 Platyspondyly TAS TAS OMIM:250220 HPO:probinson 17.02.2009
-OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0001252 Muscular hypotonia TAS TAS OMIM:250220 HPO:probinson 17.02.2009
-OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0001631 Defect in the atrial septum TAS TAS OMIM:250220 HPO:probinson 17.02.2009
-OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0001762 Talipes equinovarus TAS TAS OMIM:250220 HPO:probinson 17.02.2009
-OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0002132 Porencephaly TAS TAS OMIM:250220 HPO:probinson 17.02.2009
-OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0002657 Spondylometaphyseal dysplasia TAS TAS OMIM:250220 HPO:probinson 17.02.2009
-OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0002663 Delayed epiphyseal ossification TAS TAS OMIM:250220 HPO:probinson 17.02.2009
-OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0002869 Flared iliac wings TAS TAS OMIM:250220 HPO:probinson 17.02.2009
-OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0002968 Rhizomelic limb shortening TAS TAS OMIM:250220 HPO:skoehler 20.06.2010
-OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0003021 Metaphyseal cupping TAS TAS OMIM:250220 HPO:probinson 17.02.2009
-OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0003025 Irregular metaphyses TAS TAS OMIM:250220 HPO:probinson 17.02.2009
-OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0003026 Short long bones TAS TAS OMIM:250220 HPO:probinson 17.02.2009
-OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0003085 Disproportionately long fibulae TAS TAS OMIM:250220 HPO:probinson 17.02.2009
-OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0003171 Horizontal acetabular roof TAS TAS OMIM:250220 HPO:probinson 17.02.2009
-OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0003498 Disproportionate short stature TAS TAS OMIM:250220 HPO:probinson 17.02.2009
-OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0004491 Large posterior fontanelle TAS TAS OMIM:250220 HPO:probinson 17.02.2009
-OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0004688 Irregular tarsal bones TAS TAS OMIM:250220 HPO:probinson 17.02.2009
-OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0006059 Cone-shaped metacarpal epiphyses TAS TAS OMIM:250220 HPO:probinson 17.02.2009
-OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0007187 Focal lissencephaly TAS TAS OMIM:250220 HPO:probinson 17.02.2009
-OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0007391 Redundant skin folds TAS TAS OMIM:250220 HPO:probinson 17.02.2009
-OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0008786 Iliac crest serration TAS TAS OMIM:250220 HPO:probinson 17.02.2009
-OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0008798 Widened, small sacrosciatic notches TAS TAS OMIM:250220 HPO:probinson 17.02.2009
-OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0009803 Short phalanx of finger IEA IEA OMIM:250220 HPO:probinson 17.02.2009
-OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0010049 Short metacarpal IEA IEA OMIM:250220 HPO:probinson 17.02.2009
-OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0010230 Cone-shaped epiphyses of the phalanges of the hand TAS TAS OMIM:250220 HPO:probinson 17.02.2009
-OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0011675 Arrhythmia TAS TAS OMIM:250220 HPO:probinson 17.02.2009
-OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0001831 Short toe TAS TAS OMIM:250220 HPO:probinson 10.06.2012
-OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0009381 Short finger TAS TAS OMIM:250220 HPO:probinson 10.06.2012
-OMIM:250220 %250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE;;SEDAGHATIAN CHONDRODYSPLASIA;;METAPHYSEAL CHONDRODYSPLASIA, CONGENITAL LETHAL HP:0003375 Narrow greater sacrosciatic notches IEA IEA OMIM-CS:SKELETAL_PELVIS > SMALL SACROSCIATIC NOTCHES OMIM:250220 HPO:skoehler 18.08.2013
-OMIM:250220 #250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE; SMDS;;SEDAGHATIAN CHONDRODYSPLASIA;;METAPHYSEAL CHONDRODYSPLASIA, CONGENITAL LETHAL HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_FEET > BRACHYDACTYLY OMIM:250220 HPO:skoehler 26.11.2014
-OMIM:250220 #250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE; SMDS;;SEDAGHATIAN CHONDRODYSPLASIA;;METAPHYSEAL CHONDRODYSPLASIA, CONGENITAL LETHAL HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY OMIM:250220 HPO:skoehler 26.11.2014
+OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:250220 HPO:probinson Feb 17, 2009
+OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0000262 Turricephaly TAS TAS OMIM:250220 HPO:probinson Feb 17, 2009
+OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0000358 Posteriorly rotated ears TAS TAS OMIM:250220 HPO:probinson Feb 17, 2009
+OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0000425 Flattened nasal bridge TAS TAS OMIM:250220 HPO:probinson Feb 17, 2009
+OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0000470 Short neck TAS TAS OMIM:250220 HPO:probinson Feb 17, 2009
+OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0000773 Short ribs TAS TAS OMIM:250220 HPO:probinson Feb 17, 2009
+OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0000774 Narrow chest TAS TAS OMIM:250220 HPO:skoehler Jun 20, 2010
+OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0000878 11 pairs of ribs TAS TAS OMIM:250220 HPO:probinson Feb 17, 2009
+OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0000887 Cupped ribs TAS TAS OMIM:250220 HPO:probinson Feb 17, 2009
+OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0000926 Platyspondyly TAS TAS OMIM:250220 HPO:probinson Feb 17, 2009
+OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0001252 Muscular hypotonia TAS TAS OMIM:250220 HPO:probinson Feb 17, 2009
+OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0001631 Defect in the atrial septum TAS TAS OMIM:250220 HPO:probinson Feb 17, 2009
+OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0001762 Talipes equinovarus TAS TAS OMIM:250220 HPO:probinson Feb 17, 2009
+OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0002132 Porencephaly TAS TAS OMIM:250220 HPO:probinson Feb 17, 2009
+OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0002657 Spondylometaphyseal dysplasia TAS TAS OMIM:250220 HPO:probinson Feb 17, 2009
+OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0002663 Delayed epiphyseal ossification TAS TAS OMIM:250220 HPO:probinson Feb 17, 2009
+OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0002869 Flared iliac wings TAS TAS OMIM:250220 HPO:probinson Feb 17, 2009
+OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0002968 Rhizomelic limb shortening TAS TAS OMIM:250220 HPO:skoehler Jun 20, 2010
+OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0003021 Metaphyseal cupping TAS TAS OMIM:250220 HPO:probinson Feb 17, 2009
+OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0003025 Metaphyseal irregularity TAS TAS OMIM:250220 HPO:probinson Feb 17, 2009
+OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0003026 Short long bones TAS TAS OMIM:250220 HPO:probinson Feb 17, 2009
+OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0003085 Long fibula TAS TAS OMIM:250220 HPO:probinson Feb 17, 2009
+OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0003171 Horizontal acetabular roof TAS TAS OMIM:250220 HPO:probinson Feb 17, 2009
+OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0003498 Disproportionate short stature TAS TAS OMIM:250220 HPO:probinson Feb 17, 2009
+OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0004491 Large posterior fontanelle TAS TAS OMIM:250220 HPO:probinson Feb 17, 2009
+OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0004688 Irregular tarsal bones TAS TAS OMIM:250220 HPO:probinson Feb 17, 2009
+OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0006059 Cone-shaped metacarpal epiphyses TAS TAS OMIM:250220 HPO:probinson Feb 17, 2009
+OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0007187 Focal lissencephaly TAS TAS OMIM:250220 HPO:probinson Feb 17, 2009
+OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0007391 Redundant skin folds TAS TAS OMIM:250220 HPO:probinson Feb 17, 2009
+OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0008786 Iliac crest serration TAS TAS OMIM:250220 HPO:probinson Feb 17, 2009
+OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0008798 Widened sacrosciatic notch TAS TAS OMIM:250220 HPO:probinson Feb 17, 2009
+OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0009803 Short phalanx of finger IEA IEA OMIM:250220 HPO:probinson Feb 17, 2009
+OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0010049 Short metacarpal IEA IEA OMIM:250220 HPO:probinson Feb 17, 2009
+OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0010230 Cone-shaped epiphyses of the phalanges of the hand TAS TAS OMIM:250220 HPO:probinson Feb 17, 2009
+OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0011675 Arrhythmia TAS TAS OMIM:250220 HPO:probinson Feb 17, 2009
+OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0001831 Short toe TAS TAS OMIM:250220 HPO:probinson Jun 10, 2012
+OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0009381 Short finger TAS TAS OMIM:250220 HPO:probinson Jun 10, 2012
+OMIM:250220 %250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE;;SEDAGHATIAN CHONDRODYSPLASIA;;METAPHYSEAL CHONDRODYSPLASIA, CONGENITAL LETHAL HP:0003375 Narrow greater sacrosciatic notches IEA IEA OMIM-CS:SKELETAL_PELVIS > SMALL SACROSCIATIC NOTCHES OMIM:250220 HPO:skoehler Aug 18, 2013
+OMIM:250220 #250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE; SMDS;;SEDAGHATIAN CHONDRODYSPLASIA;;METAPHYSEAL CHONDRODYSPLASIA, CONGENITAL LETHAL HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_FEET > BRACHYDACTYLY OMIM:250220 HPO:skoehler Nov 26, 2014
+OMIM:250220 #250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE; SMDS;;SEDAGHATIAN CHONDRODYSPLASIA;;METAPHYSEAL CHONDRODYSPLASIA, CONGENITAL LETHAL HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY OMIM:250220 HPO:skoehler Nov 26, 2014
+OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0003375 Narrow greater sacrosciatic notches TAS TAS OMIM:250220 HPO:probinson Feb 1, 2015
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|
|
From: <pr...@us...> - 2015-02-01 07:21:00
|
Revision: 5291
http://sourceforge.net/p/obo/svn/5291
Author: probins
Date: 2015-02-01 07:20:53 +0000 (Sun, 01 Feb 2015)
Log Message:
-----------
Some new annotations
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-109100.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-109350.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-114550.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-109100.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-109100.tab 2015-02-01 07:13:24 UTC (rev 5290)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-109100.tab 2015-02-01 07:20:53 UTC (rev 5291)
@@ -1,3 +1,3 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:109100 AUTOIMMUNE DISEASE HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:109100 HPO 17.02.2009
-OMIM:109100 AUTOIMMUNE DISEASE HP:0002960 Autoimmunity IEA IEA OMIM:109100 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:109100 AUTOIMMUNE DISEASE HP:0030057 Autoimmune antibody positivity IEA IEA OMIM:109100 HPO Feb 17, 2009
+OMIM:109100 AUTOIMMUNE DISEASE HP:0002960 Autoimmunity IEA IEA OMIM:109100 HPO Feb 17, 2009
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-109350.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-109350.tab 2015-02-01 07:13:24 UTC (rev 5290)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-109350.tab 2015-02-01 07:20:53 UTC (rev 5291)
@@ -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:109350 GASTROESOPHAGEAL REFLUX HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:109350 HPO Feb 17, 2009
-OMIM:109350 GASTROESOPHAGEAL REFLUX HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:109350 HPO Feb 17, 2009
-OMIM:109350 GASTROESOPHAGEAL REFLUX HP:0002020 Gastroesophageal reflux IEA IEA OMIM:109350 HPO Feb 17, 2009
-OMIM:109350 GASTROESOPHAGEAL REFLUX HP:0002664 Neoplasm IEA IEA OMIM:109350 HPO Feb 17, 2009
-OMIM:109350 GASTROESOPHAGEAL REFLUX HP:0100633 Esophagitis IEA IEA OMIM:109350 HPO:skoehler Oct 12, 2012
+OMIM:109350 GASTROESOPHAGEAL REFLUX HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:109350 HPO:probinson Feb 17, 2009
+OMIM:109350 GASTROESOPHAGEAL REFLUX HP:0002020 Gastroesophageal reflux TAS TAS OMIM:109350 HPO:probinson Feb 17, 2009
+OMIM:109350 GASTROESOPHAGEAL REFLUX HP:0100751 Esophageal neoplasm TAS TAS 10% OMIM:109350 HPO:probinson Feb 17, 2009
+OMIM:109350 GASTROESOPHAGEAL REFLUX HP:0100633 Esophagitis TAS TAS OMIM:109350 HPO:skoehler Oct 12, 2012
+OMIM:109350 GASTROESOPHAGEAL REFLUX HP:0100580 Barrett esophagus TAS TAS OMIM:109350 HPO:probinson Feb 1, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-114550.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-114550.tab 2015-02-01 07:13:24 UTC (rev 5290)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-114550.tab 2015-02-01 07:20:53 UTC (rev 5291)
@@ -1,8 +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:114550 HEPATOCELLULAR CARCINOMA HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:114550 HPO 17.02.2009
-OMIM:114550 HEPATOCELLULAR CARCINOMA HP:0001402 Hepatocellular carcinoma IEA IEA OMIM:114550 HPO 17.02.2009
-OMIM:114550 HEPATOCELLULAR CARCINOMA HP:0001413 Micronodular cirrhosis IEA IEA OMIM:114550 HPO 17.02.2009
-OMIM:114550 HEPATOCELLULAR CARCINOMA HP:0001425 Heterogeneous IEA IEA OMIM:114550 HPO 17.02.2009
-OMIM:114550 HEPATOCELLULAR CARCINOMA HP:0001428 Somatic mutation IEA IEA OMIM:114550 HPO 17.02.2009
-OMIM:114550 HEPATOCELLULAR CARCINOMA HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:114550 HPO 17.02.2009
-OMIM:114550 HEPATOCELLULAR CARCINOMA HP:0006572 Subacute progressive viral hepatitis IEA IEA OMIM:114550 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:114550 HEPATOCELLULAR CARCINOMA HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:114550 HPO:probinson Feb 17, 2009
+OMIM:114550 HEPATOCELLULAR CARCINOMA HP:0001402 Hepatocellular carcinoma TAS TAS OMIM:114550 HPO:probinson Feb 17, 2009
+OMIM:114550 HEPATOCELLULAR CARCINOMA HP:0001413 Micronodular cirrhosis TAS TAS OMIM:114550 HPO:probinson Feb 17, 2009
+OMIM:114550 HEPATOCELLULAR CARCINOMA HP:0001428 Somatic mutation TAS TAS OMIM:114550 HPO:probinson Feb 17, 2009
+OMIM:114550 HEPATOCELLULAR CARCINOMA HP:0006572 Subacute progressive viral hepatitis TAS TAS OMIM:114550 HPO:probinson Feb 17, 2009
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <pr...@us...> - 2015-02-01 07:13:31
|
Revision: 5290
http://sourceforge.net/p/obo/svn/5290
Author: probins
Date: 2015-02-01 07:13:24 +0000 (Sun, 01 Feb 2015)
Log Message:
-----------
Removing OMIM-108980, it refers to a polygenic trait and not a disease
Removed Paths:
-------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108980.tab
Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108980.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108980.tab 2015-02-01 07:12:19 UTC (rev 5289)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108980.tab 2015-02-01 07:13:24 UTC (rev 5290)
@@ -1,2 +0,0 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:108980 ATRIOVENTRICULAR CONDUCTION TIME HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:108980 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...> - 2015-02-01 07:12:21
|
Revision: 5289
http://sourceforge.net/p/obo/svn/5289
Author: probins
Date: 2015-02-01 07:12:19 +0000 (Sun, 01 Feb 2015)
Log Message:
-----------
Revising some annotations
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108370.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108720.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-234500.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108370.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108370.tab 2015-02-01 06:56:09 UTC (rev 5288)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108370.tab 2015-02-01 07:12:19 UTC (rev 5289)
@@ -1,3 +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:108370 ASPARAGINE SYNTHETASE HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:108370 HPO 17.02.2009
-OMIM:108370 ASPARAGINE SYNTHETASE HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:108370 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:108370 ASPARAGINE SYNTHETASE HP:0000006 Autosomal dominant inheritance PCS PCS PMID:24139043 HPO:probinson Feb 17, 2009
+OMIM:108370 ASPARAGINE SYNTHETASE HP:0011451 Congenital microcephaly PCS PCS PMID:24139043 HPO:probinson Feb 1, 2015
+OMIM:108370 ASPARAGINE SYNTHETASE HP:0001249 Intellectual disability PCS PCS PMID:24139043 HPO:probinson Feb 1, 2015
+OMIM:108370 ASPARAGINE SYNTHETASE HP:0001250 Seizures PCS PCS PMID:24139043 HPO:probinson Feb 1, 2015
+OMIM:108370 ASPARAGINE SYNTHETASE HP:0002059 Cerebral atrophy PCS PCS PMID:24139043 HPO:probinson Feb 1, 2015
+OMIM:108370 ASPARAGINE SYNTHETASE HP:0008936 Muscular hypotonia of the trunk PCS PCS PMID:24139043 HPO:probinson Feb 1, 2015
+OMIM:108370 ASPARAGINE SYNTHETASE HP:0001257 Spasticity PCS PCS PMID:24139043 HPO:probinson Feb 1, 2015
+OMIM:108370 ASPARAGINE SYNTHETASE HP:0012448 Delayed myelination PCS PCS PMID:24139043 HPO:probinson Feb 1, 2015
+OMIM:108370 ASPARAGINE SYNTHETASE HP:0003217 Hyperglutaminemia PCS PCS Mild PMID:24139043 HPO:probinson Feb 1, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108720.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108720.tab 2015-02-01 06:56:09 UTC (rev 5288)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108720.tab 2015-02-01 07:12:19 UTC (rev 5289)
@@ -1,41 +1,40 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0000028 Cryptorchidism IEA IEA OMIM:108720 HPO 17.02.2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0000175 Cleft palate IEA IEA OMIM:108720 HPO 17.02.2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0000272 Malar flattening IEA IEA OMIM:108720 HPO 17.02.2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0000347 Micrognathia IEA IEA OMIM:108720 HPO 17.02.2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0000425 Flattened nasal bridge IEA IEA OMIM:108720 HPO 17.02.2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0000470 Short neck IEA IEA OMIM:108720 HPO 17.02.2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0000520 Proptosis IEA IEA OMIM:108720 HPO 17.02.2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0000878 11 pairs of ribs IEA IEA OMIM:108720 HPO 17.02.2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0001156 Brachydactyly syndrome IEA IEA OMIM:108720 HPO 17.02.2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0001420 Isolated cases IEA IEA OMIM:108720 HPO 17.02.2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0001547 Abnormality of the morphology or size of the rib cage IEA IEA OMIM:108720 HPO 17.02.2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0001561 Polyhydramnios IEA IEA OMIM:108720 HPO 17.02.2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0001602 Laryngeal stenosis IEA IEA OMIM:108720 HPO 17.02.2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0001622 Premature birth IEA IEA OMIM:108720 HPO 17.02.2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0001762 Talipes equinovarus IEA IEA OMIM:108720 HPO 17.02.2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:108720 HPO 17.02.2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0002007 Frontal bossing IEA IEA OMIM:108720 HPO 17.02.2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0002084 Encephalocele IEA IEA OMIM:108720 HPO 17.02.2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0002949 Fused cervical vertebrae IEA IEA OMIM:108720 HPO 17.02.2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0002968 Rhizomelic limb shortening IEA IEA OMIM:108720 HPO 17.02.2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0002982 Tibial bowing IEA IEA OMIM:108720 HPO:skoehler 20.06.2010
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0002986 Radial bowing IEA IEA OMIM:108720 HPO:skoehler 20.06.2010
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0002990 Fibular aplasia IEA IEA OMIM:108720 HPO 17.02.2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0003014 Short humeri TAS TAS OMIM:108720 HPO:probinson 17.02.2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0003042 Elbow dislocation IEA IEA OMIM:108720 HPO 17.02.2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0003196 Short nose IEA IEA OMIM:108720 HPO 17.02.2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0003417 Coronal cleft vertebrae IEA IEA OMIM:108720 HPO 17.02.2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0003826 Stillbirth IEA IEA OMIM:108720 HPO 17.02.2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0004592 Thoracic platyspondyly IEA IEA OMIM:108720 HPO 17.02.2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0006408 Short femora with proximal clubbing and distal tapering IEA IEA OMIM:108720 HPO 17.02.2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0006495 Aplasia/Hypoplasia of the ulna IEA IEA OMIM:108720 HPO 17.02.2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0008873 Disproportionate short-limb short stature IEA IEA OMIM:108720 HPO 17.02.2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0010049 Short metacarpal IEA IEA OMIM:108720 HPO 17.02.2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0010743 Short metatarsal bone IEA IEA OMIM:108720 HPO 17.02.2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0003097 Short femur TAS TAS OMIM:108720 HPO:probinson 10.06.2012
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0006406 Club-shaped proximal femurs TAS TAS OMIM:108720 HPO:probinson 10.06.2012
-OMIM:108720 #108720 ATELOSTEOGENESIS, TYPE I; AOI;;GIANT CELL CHONDRODYSPLASIA;;SPONDYLOHUMEROFEMORAL HYPOPLASIA HP:0003811 Neonatal death IEA IEA OMIM-CS:MISCELLANEOUS > ALL CASES HAVE BEEN STILLBORN OR IMMEDIATE NEONATAL DEATH OMIM:108720 HPO:skoehler 22.01.2013
-OMIM:108720 #108720 ATELOSTEOGENESIS, TYPE I; AOI;;GIANT CELL CHONDRODYSPLASIA;;SPONDYLOHUMEROFEMORAL HYPOPLASIA HP:0001217 Clubbing IEA IEA OMIM-CS:SKELETAL_LIMBS > SHORT FEMORA WITH PROXIMAL CLUBBING AND DISTAL TAPERING OMIM:108720 HPO:skoehler 22.01.2013
-OMIM:108720 #108720 ATELOSTEOGENESIS, TYPE I; AOI;;GIANT CELL CHONDRODYSPLASIA;;SPONDYLOHUMEROFEMORAL HYPOPLASIA HP:0001217 Clubbing IEA IEA OMIM-CS:SKELETAL_LIMBS > SHORT HUMERI WITH PROXIMAL CLUBBING AND DISTAL TAPERING OMIM:108720 HPO:skoehler 22.01.2013
-OMIM:108720 #108720 ATELOSTEOGENESIS, TYPE I; AOI;;GIANT CELL CHONDRODYSPLASIA;;SPONDYLOHUMEROFEMORAL HYPOPLASIA HP:0011800 Midface retrusion IEA IEA OMIM-CS:HEAD AND NECK_FACE > MIDFACE HYPOPLASIA OMIM:108720 HPO:skoehler 28.11.2013
+OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0000028 Cryptorchidism IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0000175 Cleft palate IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0000272 Malar flattening IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0000347 Micrognathia IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0000425 Flattened nasal bridge IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0000470 Short neck IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0000520 Proptosis IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0000878 11 pairs of ribs TAS TAS OMIM:108720 HPO:probinson Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0001156 Brachydactyly syndrome IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0001420 Isolated cases IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0001561 Polyhydramnios IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0001602 Laryngeal stenosis IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0001622 Premature birth IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0001762 Talipes equinovarus IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0002007 Frontal bossing IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0002084 Encephalocele IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0002949 Fused cervical vertebrae IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0002968 Rhizomelic limb shortening IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0002982 Tibial bowing IEA IEA OMIM:108720 HPO:skoehler Jun 20, 2010
+OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0002986 Radial bowing IEA IEA OMIM:108720 HPO:skoehler Jun 20, 2010
+OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0002990 Fibular aplasia IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0003014 Short humeri TAS TAS OMIM:108720 HPO:probinson Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0003042 Elbow dislocation IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0003196 Short nose IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0003417 Coronal cleft vertebrae IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0003826 Stillbirth IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0004592 Thoracic platyspondyly IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0006408 Distal tapering femur IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0006495 Aplasia/Hypoplasia of the ulna IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0008873 Disproportionate short-limb short stature IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0010049 Short metacarpal IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0010743 Short metatarsal IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0003097 Short femur TAS TAS OMIM:108720 HPO:probinson Jun 10, 2012
+OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0006406 Club-shaped proximal femur TAS TAS OMIM:108720 HPO:probinson Jun 10, 2012
+OMIM:108720 #108720 ATELOSTEOGENESIS, TYPE I; AOI;;GIANT CELL CHONDRODYSPLASIA;;SPONDYLOHUMEROFEMORAL HYPOPLASIA HP:0003811 Neonatal death IEA IEA OMIM-CS:MISCELLANEOUS > ALL CASES HAVE BEEN STILLBORN OR IMMEDIATE NEONATAL DEATH OMIM:108720 HPO:skoehler Jan 22, 2013
+OMIM:108720 #108720 ATELOSTEOGENESIS, TYPE I; AOI;;GIANT CELL CHONDRODYSPLASIA;;SPONDYLOHUMEROFEMORAL HYPOPLASIA HP:0001217 Clubbing IEA IEA OMIM-CS:SKELETAL_LIMBS > SHORT FEMORA WITH PROXIMAL CLUBBING AND DISTAL TAPERING OMIM:108720 HPO:skoehler Jan 22, 2013
+OMIM:108720 #108720 ATELOSTEOGENESIS, TYPE I; AOI;;GIANT CELL CHONDRODYSPLASIA;;SPONDYLOHUMEROFEMORAL HYPOPLASIA HP:0001217 Clubbing IEA IEA OMIM-CS:SKELETAL_LIMBS > SHORT HUMERI WITH PROXIMAL CLUBBING AND DISTAL TAPERING OMIM:108720 HPO:skoehler Jan 22, 2013
+OMIM:108720 #108720 ATELOSTEOGENESIS, TYPE I; AOI;;GIANT CELL CHONDRODYSPLASIA;;SPONDYLOHUMEROFEMORAL HYPOPLASIA HP:0011800 Midface retrusion IEA IEA OMIM-CS:HEAD AND NECK_FACE > MIDFACE HYPOPLASIA OMIM:108720 HPO:skoehler Nov 28, 2013
+OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0000774 Narrow chest TAS TAS OMIM:108720 HPO:probinson Feb 1, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-234500.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-234500.tab 2015-02-01 06:56:09 UTC (rev 5288)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-234500.tab 2015-02-01 07:12:19 UTC (rev 5289)
@@ -1,14 +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:234500 HARTNUP DISORDER HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:234500 HPO 17.02.2009
-OMIM:234500 HARTNUP DISORDER HP:0000206 Glossitis IEA IEA rare OMIM:234500 HPO:skoehler 20.06.2010
-OMIM:234500 HARTNUP DISORDER HP:0000709 Psychosis IEA IEA OMIM:234500 HPO 17.02.2009
-OMIM:234500 HARTNUP DISORDER HP:0000712 Emotional lability IEA IEA OMIM:234500 HPO 17.02.2009
-OMIM:234500 HARTNUP DISORDER HP:0000964 Eczema IEA IEA OMIM:234500 HPO:skoehler 20.06.2010
-OMIM:234500 HARTNUP DISORDER HP:0001250 Seizures IEA IEA OMIM:234500 HPO 17.02.2009
-OMIM:234500 HARTNUP DISORDER HP:0001263 Global developmental delay IEA IEA OMIM:234500 HPO 17.02.2009
-OMIM:234500 HARTNUP DISORDER HP:0001276 Hypertonia IEA IEA OMIM:234500 HPO 17.02.2009
-OMIM:234500 HARTNUP DISORDER HP:0001347 Hyperreflexia IEA IEA OMIM:234500 HPO 17.02.2009
-OMIM:234500 HARTNUP DISORDER HP:0004322 Short stature IEA IEA OMIM:234500 HPO 17.02.2009
-OMIM:234500 HARTNUP DISORDER HP:0006862 Intermittent cerebellar ataxia IEA IEA OMIM:234500 HPO 17.02.2009
-OMIM:234500 HARTNUP DISORDER HP:0008353 Neutral hyperaminoaciduria IEA IEA OMIM:234500 HPO 17.02.2009
-OMIM:234500 #234500 HARTNUP DISORDER; HND;;HARTNUP DISEASE HP:0002131 Episodic ataxia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTERMITTENT CEREBELLAR ATAXIA OMIM:234500 HPO:skoehler 04.01.2015
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:234500 HARTNUP DISORDER HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:234500 HPO:probinson Feb 17, 2009
+OMIM:234500 HARTNUP DISORDER HP:0000206 Glossitis TAS TAS rare OMIM:234500 HPO:skoehler Jun 20, 2010
+OMIM:234500 HARTNUP DISORDER HP:0000709 Psychosis TAS TAS OMIM:234500 HPO:probinson Feb 17, 2009
+OMIM:234500 HARTNUP DISORDER HP:0000712 Emotional lability TAS TAS OMIM:234500 HPO:probinson Feb 17, 2009
+OMIM:234500 HARTNUP DISORDER HP:0001250 Seizures TAS TAS OMIM:234500 HPO:probinson Feb 17, 2009
+OMIM:234500 HARTNUP DISORDER HP:0001263 Global developmental delay TAS TAS OMIM:234500 HPO:probinson Feb 17, 2009
+OMIM:234500 HARTNUP DISORDER HP:0001276 Hypertonia TAS TAS OMIM:234500 HPO:probinson Feb 17, 2009
+OMIM:234500 HARTNUP DISORDER HP:0001347 Hyperreflexia TAS TAS OMIM:234500 HPO:probinson Feb 17, 2009
+OMIM:234500 HARTNUP DISORDER HP:0004322 Short stature TAS TAS Occasional OMIM:234500 HPO:probinson Feb 17, 2009
+OMIM:234500 HARTNUP DISORDER HP:0008353 Neutral hyperaminoaciduria TAS TAS OMIM:234500 HPO:probinson Feb 17, 2009
+OMIM:234500 #234500 HARTNUP DISORDER; HND;;HARTNUP DISEASE HP:0002131 Episodic ataxia TAS TAS OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTERMITTENT CEREBELLAR ATAXIA OMIM:234500 HPO:skoehler Jan 4, 2015
+OMIM:234500 HARTNUP DISORDER HP:0000992 Cutaneous photosensitivity TAS TAS OMIM:234500 HPO:skoehler Feb 1, 2015
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