From: <pr...@us...> - 2013-03-30 22:31:15
|
Revision: 4863 http://obo.svn.sourceforge.net/obo/?rev=4863&view=rev Author: probins Date: 2013-03-30 22:31:01 +0000 (Sat, 30 Mar 2013) Log Message: ----------- ITM entries Modified Paths: -------------- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-107730.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-113310.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-175500.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-202370.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-237400.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-238950.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-310465.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-550500.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600101.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600631.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601338.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606703.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606943.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608631.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609941.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611031.tab Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-107730.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-107730.tab 2013-03-30 22:04:20 UTC (rev 4862) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-107730.tab 2013-03-30 22:31:01 UTC (rev 4863) @@ -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:107730 APOLIPOPROTEIN B HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:107730 HPO 17.02.2009 -OMIM:107730 APOLIPOPROTEIN B HP:0000510 Retinitis pigmentosa IEA IEA OMIM:107730 HPO 17.02.2009 -OMIM:107730 APOLIPOPROTEIN B HP:0001251 Ataxia IEA IEA OMIM:107730 HPO 17.02.2009 -OMIM:107730 APOLIPOPROTEIN B HP:0001315 Reduced reflexes IEA IEA OMIM:107730 HPO 17.02.2009 -OMIM:107730 APOLIPOPROTEIN B HP:0001677 Coronary artery disease IEA IEA OMIM:107730 HPO 17.02.2009 -OMIM:107730 APOLIPOPROTEIN B HP:0001927 Acanthocytosis IEA IEA OMIM:107730 HPO 17.02.2009 -OMIM:107730 APOLIPOPROTEIN B HP:0002630 Fat malabsorption IEA IEA OMIM:107730 SKOEHLER 20.06.2010 -OMIM:107730 APOLIPOPROTEIN B HP:0003124 Hypercholesterolemia IEA IEA OMIM:107730 HPO 17.02.2009 -OMIM:107730 APOLIPOPROTEIN B HP:0003141 Hyperbetalipoproteinemia ITM ITM OMIM:107730 HPO 17.02.2009 -OMIM:107730 APOLIPOPROTEIN B HP:0003563 Hypobetalipoproteinemia IEA IEA OMIM:107730 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:107730 APOLIPOPROTEIN B HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:107730 HPO Feb 17, 2009 +OMIM:107730 APOLIPOPROTEIN B HP:0000510 Retinitis pigmentosa IEA IEA OMIM:107730 HPO Feb 17, 2009 +OMIM:107730 APOLIPOPROTEIN B HP:0001251 Ataxia IEA IEA OMIM:107730 HPO Feb 17, 2009 +OMIM:107730 APOLIPOPROTEIN B HP:0001315 Reduced tendon reflexes IEA IEA OMIM:107730 HPO Feb 17, 2009 +OMIM:107730 APOLIPOPROTEIN B HP:0001677 Coronary artery disease IEA IEA OMIM:107730 HPO Feb 17, 2009 +OMIM:107730 APOLIPOPROTEIN B HP:0001927 Acanthocytosis IEA IEA OMIM:107730 HPO Feb 17, 2009 +OMIM:107730 APOLIPOPROTEIN B HP:0002630 Fat malabsorption IEA IEA OMIM:107730 SKOEHLER Jun 20, 2010 +OMIM:107730 APOLIPOPROTEIN B HP:0003124 Hypercholesterolemia IEA IEA OMIM:107730 HPO Feb 17, 2009 +OMIM:107730 APOLIPOPROTEIN B HP:0003563 Hypobetalipoproteinemia TAS TAS OMIM:107730 HPO:probinson Feb 17, 2009 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-113310.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-113310.tab 2013-03-30 22:04:20 UTC (rev 4862) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-113310.tab 2013-03-30 22:31:01 UTC (rev 4863) @@ -1,7 +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:113310 BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA HP:0001156 Brachydactyly ITM ITM OMIM:113310 HPO 17.02.2009 -OMIM:113310 BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA HP:0001171 Ectrodactyly (hands) ITM ITM OMIM:113310 HPO 17.02.2009 -OMIM:113310 BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA HP:0001839 Ectrodactyly (feet) ITM ITM OMIM:113310 HPO 17.02.2009 -OMIM:113310 BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA HP:0002990 Fibular aplasia ITM ITM OMIM:113310 HPO 17.02.2009 -OMIM:113310 BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA HP:0006492 Aplasia/Hypoplasia of the fibula IEA IEA OMIM:113310 SKOEHLER 18.06.2010 -OMIM:113310 BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA HP:0009803 Hypoplastic/small phalanges of the hand IEA IEA OMIM:113310 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:113310 BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA HP:0001839 Ectrodactyly (feet) TAS TAS OMIM:113310 HPO:probinson Feb 17, 2009 +OMIM:113310 BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA HP:0002990 Fibular aplasia TAS TAS OMIM:113310 HPO:probinson Feb 17, 2009 +OMIM:113310 BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA HP:0006492 Aplasia/Hypoplasia of the fibula IEA IEA OMIM:113310 HPO:skoehler Jun 18, 2010 +OMIM:113310 BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA HP:0009803 Short phalanx of finger IEA IEA OMIM:113310 HPO:probinson Feb 17, 2009 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-175500.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-175500.tab 2013-03-30 22:04:20 UTC (rev 4862) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-175500.tab 2013-03-30 22:31:01 UTC (rev 4863) @@ -1,28 +1,27 @@ Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset 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:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0000206 Glossitis IEA IEA 17.02.2009 -MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0000217 Xerostomia IEA IEA 17.02.2009 -MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0000518 Cataract IEA IEA 17.02.2009 -MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0000953 Hyperpigmentation of the skin IEA IEA 17.02.2009 -MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0001217 Clubbing IEA IEA 17.02.2009 -MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0001420 Isolated cases IEA IEA 17.02.2009 -MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0001596 Alopecia IEA IEA 17.02.2009 -MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0001903 Anemia IEA IEA 17.02.2009 -MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0001907 Thromboembolism IEA IEA 17.02.2009 -MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0002013 Vomiting IEA IEA 17.02.2009 -MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0002014 Diarrhea IEA IEA 17.02.2009 -MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0002024 Malabsorption IEA IEA 17.02.2009 -MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0002027 Abdominal pain IEA IEA 17.02.2009 -MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0002039 Anorexia IEA IEA 17.02.2009 -MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0002164 Nail dysplasia IEA IEA 17.02.2009 -MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0002243 Protein-losing enteropathy IEA IEA 17.02.2009 -MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0001324 Muscle weakness IEA IEA 17.02.2009 -MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0002573 Hematochezia IEA IEA 17.02.2009 -MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0002672 Gastrointestinal carcinoma IEA IEA 17.02.2009 -MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0002900 Hypokalemia IEA IEA 17.02.2009 -MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0002901 Hypocalcemia IEA IEA 17.02.2009 -MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0002917 Hypomagnesemia IEA IEA 17.02.2009 -MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0003401 Paresthesia IEA IEA 17.02.2009 -MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0004326 Cachexia IEA IEA 17.02.2009 -MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0004390 Hamartomatous polyps ITM ITM 17.02.2009 -MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0007610 Blotching pigmentation of the skin ITM ITM 17.02.2009 -OMIM:175500 175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES;;CRONKHITE-CANADA SYNDROME HP:0100759 Clubbing of fingers IEA IEA OMIM-CS:SKELETAL_HANDS > CLUBBING OF FINGERS OMIM:175500 HPO:skoehler 17.10.2012 +MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0000206 Glossitis IEA IEA OMIM:175500 HPO Feb 17, 2009 +MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0000217 Xerostomia IEA IEA OMIM:175500 HPO Feb 17, 2009 +MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0000518 Cataract IEA IEA OMIM:175500 HPO Feb 17, 2009 +MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0000953 Hyperpigmentation of the skin IEA IEA OMIM:175500 HPO Feb 17, 2009 +MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0001217 Clubbing IEA IEA OMIM:175500 HPO Feb 17, 2009 +MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0001420 Isolated cases IEA IEA OMIM:175500 HPO Feb 17, 2009 +MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0001596 Alopecia IEA IEA OMIM:175500 HPO Feb 17, 2009 +MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0001903 Anemia IEA IEA OMIM:175500 HPO Feb 17, 2009 +MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0001907 Thromboembolism IEA IEA OMIM:175500 HPO Feb 17, 2009 +MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0002013 Vomiting IEA IEA OMIM:175500 HPO Feb 17, 2009 +MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0002014 Diarrhea IEA IEA OMIM:175500 HPO Feb 17, 2009 +MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0002024 Malabsorption IEA IEA OMIM:175500 HPO Feb 17, 2009 +MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0002027 Abdominal pain IEA IEA OMIM:175500 HPO Feb 17, 2009 +MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0002039 Anorexia IEA IEA OMIM:175500 HPO Feb 17, 2009 +MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0002164 Nail dysplasia IEA IEA OMIM:175500 HPO Feb 17, 2009 +MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0002243 Protein-losing enteropathy IEA IEA OMIM:175500 HPO Feb 17, 2009 +MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0001324 Muscle weakness IEA IEA OMIM:175500 HPO Feb 17, 2009 +MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0002573 Hematochezia IEA IEA OMIM:175500 HPO Feb 17, 2009 +MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0002672 Gastrointestinal carcinoma IEA IEA OMIM:175500 HPO Feb 17, 2009 +MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0002900 Hypokalemia IEA IEA OMIM:175500 HPO Feb 17, 2009 +MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0002901 Hypocalcemia IEA IEA OMIM:175500 HPO Feb 17, 2009 +MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0002917 Hypomagnesemia IEA IEA OMIM:175500 HPO Feb 17, 2009 +MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0003401 Paresthesia IEA IEA OMIM:175500 HPO Feb 17, 2009 +MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0004326 Cachexia IEA IEA OMIM:175500 HPO Feb 17, 2009 +MIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES HP:0004390 Hamartomatous polyps TAS TAS OMIM:175500 HPO:skoehler Feb 17, 2009 +OMIM:175500 175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES;;CRONKHITE-CANADA SYNDROME HP:0100759 Clubbing of fingers TAS TAS OMIM:175500 HPO:skoehler Oct 17, 2012 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-202370.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-202370.tab 2013-03-30 22:04:20 UTC (rev 4862) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-202370.tab 2013-03-30 22:31:01 UTC (rev 4863) @@ -1,17 +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:202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:202370 HPO 17.02.2009 -OMIM:202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM HP:0000218 High palate IEA IEA OMIM:202370 HPO 17.02.2009 -OMIM:202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM HP:0000268 Dolichocephaly IEA IEA OMIM:202370 HPO 17.02.2009 -OMIM:202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM HP:0000286 Epicanthus IEA IEA OMIM:202370 HPO 17.02.2009 -OMIM:202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM HP:0000369 Low-set ears IEA IEA OMIM:202370 HPO 17.02.2009 -OMIM:202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM HP:0000431 Broad nasal bridge IEA IEA OMIM:202370 HPO 17.02.2009 -OMIM:202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM HP:0000463 Nares, anteverted IEA IEA OMIM:202370 HPO 17.02.2009 -OMIM:202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM HP:0000518 Cataract ITM ITM OMIM:202370 HPO 17.02.2009 -OMIM:202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM HP:0000565 Esotropia IEA IEA OMIM:202370 HPO 17.02.2009 -OMIM:202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM HP:0000846 Adrenal insufficiency IEA IEA OMIM:202370 HPO 17.02.2009 -OMIM:202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM HP:0000951 Abnormality of the skin IEA IEA OMIM:202370 HPO 17.02.2009 -OMIM:202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM HP:0001249 Intellectual disability IEA IEA OMIM:202370 HPO 17.02.2009 -OMIM:202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM HP:0001250 Seizures IEA IEA OMIM:202370 HPO 17.02.2009 -OMIM:202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM HP:0001999 Abnormal facial shape IEA IEA OMIM:202370 HPO 17.02.2009 -OMIM:202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM HP:0002007 Frontal bossing IEA IEA OMIM:202370 HPO 17.02.2009 -OMIM:202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM HP:0003455 Elevated long chain fatty acids IEA IEA OMIM:202370 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:202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:202370 HPO Feb 17, 2009 +OMIM:202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM HP:0000218 High palate IEA IEA OMIM:202370 HPO Feb 17, 2009 +OMIM:202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM HP:0000268 Dolichocephaly IEA IEA OMIM:202370 HPO Feb 17, 2009 +OMIM:202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM HP:0000286 Epicanthus IEA IEA OMIM:202370 HPO Feb 17, 2009 +OMIM:202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM HP:0000369 Low-set ears IEA IEA OMIM:202370 HPO Feb 17, 2009 +OMIM:202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM HP:0000431 Wide nasal bridge IEA IEA OMIM:202370 HPO Feb 17, 2009 +OMIM:202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM HP:0000463 Anteverted nares IEA IEA OMIM:202370 HPO Feb 17, 2009 +OMIM:202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM HP:0000565 Esotropia IEA IEA OMIM:202370 HPO Feb 17, 2009 +OMIM:202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM HP:0000846 Adrenal insufficiency IEA IEA OMIM:202370 HPO Feb 17, 2009 +OMIM:202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM HP:0001249 Intellectual disability IEA IEA OMIM:202370 HPO Feb 17, 2009 +OMIM:202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM HP:0001250 Seizures IEA IEA OMIM:202370 HPO Feb 17, 2009 +OMIM:202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM HP:0001999 Abnormal facial shape IEA IEA OMIM:202370 HPO Feb 17, 2009 +OMIM:202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM HP:0002007 Frontal bossing IEA IEA OMIM:202370 HPO Feb 17, 2009 +OMIM:202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM HP:0003455 Elevated long chain fatty acids IEA IEA OMIM:202370 HPO Feb 17, 2009 +OMIM:202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM HP:0010696 Polar cataract HP:0003623 Neonatal onset TAS TAS OMIM:202370 HPO:probinson Mar 30, 2013 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-237400.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-237400.tab 2013-03-30 22:04:20 UTC (rev 4862) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-237400.tab 2013-03-30 22:31:01 UTC (rev 4863) @@ -1,8 +1,8 @@ -Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created -OMIM:237400 HYPER-BETA-ALANINEMIA HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:237400 HPO 17.02.2009 -OMIM:237400 HYPER-BETA-ALANINEMIA HP:0001250 Seizures IEA IEA OMIM:237400 HPO 17.02.2009 -OMIM:237400 HYPER-BETA-ALANINEMIA HP:0001262 Somnolence IEA IEA OMIM:237400 HPO 17.02.2009 -OMIM:237400 HYPER-BETA-ALANINEMIA HP:0001508 Failure to thrive IEA IEA OMIM:237400 HPO 17.02.2009 -OMIM:237400 HYPER-BETA-ALANINEMIA HP:0002643 Neonatal respiratory distress IEA IEA OMIM:237400 HPO 17.02.2009 -OMIM:237400 HYPER-BETA-ALANINEMIA HP:0003348 Hyperalaninemia ITM ITM OMIM:237400 HPO 17.02.2009 -OMIM:237400 HYPER-BETA-ALANINEMIA HP:0003355 Aminoaciduria IEA IEA OMIM:237400 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:237400 HYPER-BETA-ALANINEMIA HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:237400 HPO Feb 17, 2009 +OMIM:237400 HYPER-BETA-ALANINEMIA HP:0001250 Seizures IEA IEA OMIM:237400 HPO Feb 17, 2009 +OMIM:237400 HYPER-BETA-ALANINEMIA HP:0001262 Somnolence IEA IEA OMIM:237400 HPO Feb 17, 2009 +OMIM:237400 HYPER-BETA-ALANINEMIA HP:0001508 Failure to thrive IEA IEA OMIM:237400 HPO Feb 17, 2009 +OMIM:237400 HYPER-BETA-ALANINEMIA HP:0002643 Neonatal respiratory distress IEA IEA OMIM:237400 HPO Feb 17, 2009 +OMIM:237400 HYPER-BETA-ALANINEMIA HP:0003348 Hyperalaninemia ITM ITM OMIM:237400 HPO Feb 17, 2009 +OMIM:237400 HYPER-BETA-ALANINEMIA HP:0003355 Aminoaciduria IEA IEA OMIM:237400 SKOEHLER Jun 20, 2010 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-238950.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-238950.tab 2013-03-30 22:04:20 UTC (rev 4862) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-238950.tab 2013-03-30 22:31:01 UTC (rev 4863) @@ -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:238950 HYPEROPIA, HIGH HP:0008499 High-grade hypermetropia ITM ITM OMIM:238950 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:238950 HYPEROPIA, HIGH HP:0008499 High-grade hypermetropia TAS TAS OMIM:238950 HPO:skoehler Feb 17, 2009 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-310465.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-310465.tab 2013-03-30 22:04:20 UTC (rev 4862) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-310465.tab 2013-03-30 22:31:01 UTC (rev 4863) @@ -1,11 +1,11 @@ -Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created -OMIM:310465 N SYNDROME HP:0000028 Cryptorchidism IEA IEA OMIM:310465 HPO 17.02.2009 -OMIM:310465 N SYNDROME HP:0000047 Hypospadias IEA IEA OMIM:310465 HPO 17.02.2009 -OMIM:310465 N SYNDROME HP:0000365 Hearing impairment IEA IEA OMIM:310465 HPO 17.02.2009 -OMIM:310465 N SYNDROME HP:0000505 Visual impairment IEA IEA OMIM:310465 HPO 17.02.2009 -OMIM:310465 N SYNDROME HP:0001249 Intellectual disability IEA IEA OMIM:310465 HPO 17.02.2009 -OMIM:310465 N SYNDROME HP:0001257 Spasticity IEA IEA OMIM:310465 HPO 17.02.2009 -OMIM:310465 N SYNDROME HP:0001417 X-linked inheritance IEA IEA OMIM:310465 HPO 17.02.2009 -OMIM:310465 N SYNDROME HP:0002664 Neoplasm IEA IEA OMIM:310465 SKOEHLER 18.06.2010 -OMIM:310465 N SYNDROME HP:0003220 Abnormality of chromosome stability IEA IEA OMIM:310465 HPO 17.02.2009 -OMIM:310465 N SYNDROME HP:0006721 Acute lymphatic leukemia ITM ITM OMIM:310465 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:310465 N SYNDROME HP:0000028 Cryptorchidism IEA IEA OMIM:310465 HPO Feb 17, 2009 +OMIM:310465 N SYNDROME HP:0000047 Hypospadias IEA IEA OMIM:310465 HPO Feb 17, 2009 +OMIM:310465 N SYNDROME HP:0000365 Hearing impairment IEA IEA OMIM:310465 HPO Feb 17, 2009 +OMIM:310465 N SYNDROME HP:0000505 Visual impairment IEA IEA OMIM:310465 HPO Feb 17, 2009 +OMIM:310465 N SYNDROME HP:0001249 Intellectual disability IEA IEA OMIM:310465 HPO Feb 17, 2009 +OMIM:310465 N SYNDROME HP:0001257 Spasticity IEA IEA OMIM:310465 HPO Feb 17, 2009 +OMIM:310465 N SYNDROME HP:0001417 X-linked inheritance IEA IEA OMIM:310465 HPO Feb 17, 2009 +OMIM:310465 N SYNDROME HP:0002664 Neoplasm IEA IEA OMIM:310465 HPO:skoehler Jun 18, 2010 +OMIM:310465 N SYNDROME HP:0003220 Abnormality of chromosome stability IEA IEA OMIM:310465 HPO Feb 17, 2009 +OMIM:310465 N SYNDROME HP:0001909 Leukemia TAS TAS OMIM:310465 HPO:skoehler Feb 17, 2009 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-550500.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-550500.tab 2013-03-30 22:04:20 UTC (rev 4862) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-550500.tab 2013-03-30 22:31:01 UTC (rev 4863) @@ -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:550500 MYOGLOBINURIA, RECURRENT HP:0001427 Mitochondrial inheritance IEA IEA OMIM:550500 HPO 17.02.2009 -OMIM:550500 MYOGLOBINURIA, RECURRENT HP:0002913 Myoglobinuria ITM ITM OMIM:550500 HPO 17.02.2009 -OMIM:550500 MYOGLOBINURIA, RECURRENT HP:0003200 Ragged-red muscle fibers ITM ITM OMIM:550500 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:550500 MYOGLOBINURIA, RECURRENT HP:0001427 Mitochondrial inheritance TAS TAS OMIM:550500 HPO:skoehler Feb 17, 2009 +OMIM:550500 MYOGLOBINURIA, RECURRENT HP:0003200 Ragged-red muscle fibers TAS TAS OMIM:550500 HPO:skoehler Feb 17, 2009 +OMIM:550500 MYOGLOBINURIA, RECURRENT HP:0008305 Exercise-induced myoglobinuria TAS TAS OMIM:550500 HPO:probinson Mar 30, 2013 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600101.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600101.tab 2013-03-30 22:04:20 UTC (rev 4862) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600101.tab 2013-03-30 22:31:01 UTC (rev 4863) @@ -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:600101 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 2 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:600101 HPO 17.02.2009 -OMIM:600101 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 2 HP:0008513 Bilateral conductive hearing impairment ITM ITM OMIM:600101 HPO 17.02.2009 -OMIM:600101 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 2 HP:0008619 Bilateral sensorineural hearing impairment ITM ITM OMIM:600101 HPO 17.02.2009 -OMIM:600101 #600101 DEAFNESS, AUTOSOMAL DOMINANT 2A; DFNA2A HP:0003676 Progressive disorder IEA IEA OMIM-CS:MISCELLANEOUS > PROGRESSIVE DISORDER OMIM:600101 HPO:skoehler 17.10.2012 -OMIM:600101 #600101 DEAFNESS, AUTOSOMAL DOMINANT 2A; DFNA2A HP:0000360 Tinnitus IEA IEA variable OMIM-CS:HEAD AND NECK_EARS > TINNITUS (VARIABLE) OMIM:600101 HPO:skoehler 28.11.2012 +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:600101 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 2 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:600101 HPO Feb 17, 2009 +OMIM:600101 #600101 DEAFNESS, AUTOSOMAL DOMINANT 2A; DFNA2A HP:0003676 Progressive disorder TAS TAS OMIM:600101 HPO:skoehler Oct 17, 2012 +OMIM:600101 #600101 DEAFNESS, AUTOSOMAL DOMINANT 2A; DFNA2A HP:0000360 Tinnitus TAS TAS Variable OMIM:600101 HPO:skoehler Nov 28, 2012 +OMIM:600101 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 2 HP:0000365 Hearing impairment TAS TAS Severe OMIM:600101 HPO:probinson Mar 30, 2013 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600631.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600631.tab 2013-03-30 22:04:20 UTC (rev 4862) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600631.tab 2013-03-30 22:31:01 UTC (rev 4863) @@ -1,5 +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:600631 ENURESIS, NOCTURNAL, 1 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:600631 HPO 17.02.2009 -OMIM:600631 ENURESIS, NOCTURNAL, 1 HP:0000707 Abnormality of the nervous system IEA IEA OMIM:600631 HPO 17.02.2009 -OMIM:600631 ENURESIS, NOCTURNAL, 1 HP:0000805 Enuresis ITM ITM OMIM:600631 HPO 17.02.2009 -OMIM:600631 %600631 ENURESIS, NOCTURNAL, 1; ENUR1;;BEDWETTING HP:0010677 Enuresis nocturna IEA IEA OMIM-CS:NEURO > NOCTURNAL ENURESIS OMIM:600631 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:600631 ENURESIS, NOCTURNAL, 1 HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:600631 HPO:skoehler Feb 17, 2009 +OMIM:600631 %600631 ENURESIS, NOCTURNAL, 1; ENUR1;;BEDWETTING HP:0010677 Enuresis nocturna TAS TAS OMIM:600631 HPO:skoehler Oct 17, 2012 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601338.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601338.tab 2013-03-30 22:04:20 UTC (rev 4862) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601338.tab 2013-03-30 22:31:01 UTC (rev 4863) @@ -1,10 +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:601338 CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURALHEARING LOSS HP:0000407 Sensorineural hearing impairment IEA IEA OMIM:601338 HPO 17.02.2009 -OMIM:601338 CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURALHEARING LOSS HP:0000639 Nystagmus IEA IEA OMIM:601338 HPO 17.02.2009 -OMIM:601338 CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURALHEARING LOSS HP:0000648 Optic atrophy IEA IEA OMIM:601338 SKOEHLER 20.06.2010 -OMIM:601338 CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURALHEARING LOSS HP:0001284 Areflexia IEA IEA OMIM:601338 HPO 17.02.2009 -OMIM:601338 CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURALHEARING LOSS HP:0001761 Pes cavus ITM ITM OMIM:601338 HPO 17.02.2009 -OMIM:601338 CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURALHEARING LOSS HP:0006852 Episodic generalized hypotonia IEA IEA OMIM:601338 HPO 17.02.2009 -OMIM:601338 CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURALHEARING LOSS HP:0007152 Relapsing, early onset cerebellar ataxia IEA IEA OMIM:601338 HPO 17.02.2009 -OMIM:601338 CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURALHEARING LOSS HP:0008957 Progressive scapuloperoneal atrophy ITM ITM OMIM:601338 HPO 17.02.2009 -OMIM:601338 CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURALHEARING LOSS HP:0009830 Peripheral neuropathy IEA IEA NOT NOT OMIM:601338 SKOEHLER 18.06.2010 +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:601338 CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURALHEARING LOSS HP:0000407 Sensorineural hearing impairment IEA IEA OMIM:601338 HPO Feb 17, 2009 +OMIM:601338 CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURALHEARING LOSS HP:0000639 Nystagmus IEA IEA OMIM:601338 HPO Feb 17, 2009 +OMIM:601338 CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURALHEARING LOSS HP:0000648 Optic atrophy IEA IEA OMIM:601338 HPO:skoehler Jun 20, 2010 +OMIM:601338 CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURALHEARING LOSS HP:0001284 Areflexia IEA IEA OMIM:601338 HPO Feb 17, 2009 +OMIM:601338 CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURALHEARING LOSS HP:0001761 Pes cavus TAS TAS OMIM:601338 HPO:skoehler Feb 17, 2009 +OMIM:601338 CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURALHEARING LOSS HP:0006852 Episodic generalized hypotonia IEA IEA OMIM:601338 HPO Feb 17, 2009 +OMIM:601338 CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURALHEARING LOSS HP:0007152 Relapsing, early onset cerebellar ataxia IEA IEA OMIM:601338 HPO Feb 17, 2009 +OMIM:601338 CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURALHEARING LOSS HP:0009830 Peripheral neuropathy TAS TAS NOT NOT OMIM:601338 HPO:skoehler Jun 18, 2010 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606703.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606703.tab 2013-03-30 22:04:20 UTC (rev 4862) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606703.tab 2013-03-30 22:31:01 UTC (rev 4863) @@ -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:606703 DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:606703 HPO 17.02.2009 -OMIM:606703 DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA HP:0000739 Anxiety IEA IEA OMIM:606703 SKOEHLER 20.06.2010 -OMIM:606703 DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA HP:0001332 Dystonia IEA IEA OMIM:606703 HPO 17.02.2009 -OMIM:606703 DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA HP:0002072 Chorea IEA IEA OMIM:606703 HPO 17.02.2009 -OMIM:606703 DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA HP:0002411 Myokymia ITM ITM OMIM:606703 HPO 17.02.2009 -OMIM:606703 DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA HP:0003621 Juvenile onset IEA IEA OMIM:606703 HPO 17.02.2009 -OMIM:606703 #606703 DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA; FDFM HP:0001635 Congestive heart failure IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > CONGESTIVE HEART FAILURE (IN SOME PATIENTS) OMIM:606703 HPO:skoehler 18.11.2012 -OMIM:606703 #606703 DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA; FDFM HP:0001644 Dilated cardiomyopathy IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > DILATED CARDIOMYOPATHY (IN SOME PATIENTS) OMIM:606703 HPO:skoehler 18.11.2012 +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:606703 DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:606703 HPO Feb 17, 2009 +OMIM:606703 DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA HP:0000739 Anxiety IEA IEA OMIM:606703 HPO:skoehler Jun 20, 2010 +OMIM:606703 DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA HP:0001332 Dystonia IEA IEA OMIM:606703 HPO Feb 17, 2009 +OMIM:606703 DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA HP:0002072 Chorea IEA IEA OMIM:606703 HPO Feb 17, 2009 +OMIM:606703 DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA HP:0003621 Juvenile onset IEA IEA OMIM:606703 HPO Feb 17, 2009 +OMIM:606703 #606703 DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA; FDFM HP:0001635 Congestive heart failure IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > CONGESTIVE HEART FAILURE (IN SOME PATIENTS) OMIM:606703 HPO:skoehler Nov 18, 2012 +OMIM:606703 #606703 DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA; FDFM HP:0001644 Dilated cardiomyopathy IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > DILATED CARDIOMYOPATHY (IN SOME PATIENTS) OMIM:606703 HPO:skoehler Nov 18, 2012 +OMIM:606703 DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA HP:0000317 Facial myokymia TAS TAS OMIM:606703 HPO:probinson Mar 30, 2013 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606943.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606943.tab 2013-03-30 22:04:20 UTC (rev 4862) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606943.tab 2013-03-30 22:31:01 UTC (rev 4863) @@ -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:606943 USHER SYNDROME, TYPE IG HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:606943 HPO 17.02.2009 -OMIM:606943 USHER SYNDROME, TYPE IG HP:0000407 Sensorineural hearing impairment ITM ITM OMIM:606943 HPO 17.02.2009 -OMIM:606943 USHER SYNDROME, TYPE IG HP:0000510 Retinitis pigmentosa IEA IEA OMIM:606943 HPO 17.02.2009 -OMIM:606943 USHER SYNDROME, TYPE IG HP:0001751 Vestibular dysfunction IEA IEA OMIM:606943 HPO 17.02.2009 -OMIM:606943 USHER SYNDROME, TYPE IG HP:0004646 Hypoplasia of the nasal bone IEA IEA OMIM:606943 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:606943 USHER SYNDROME, TYPE IG HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:606943 HPO Feb 17, 2009 +OMIM:606943 USHER SYNDROME, TYPE IG HP:0000407 Sensorineural hearing impairment TAS TAS OMIM:606943 HPO:skoehler Feb 17, 2009 +OMIM:606943 USHER SYNDROME, TYPE IG HP:0000510 Retinitis pigmentosa IEA IEA OMIM:606943 HPO Feb 17, 2009 +OMIM:606943 USHER SYNDROME, TYPE IG HP:0001751 Vestibular dysfunction IEA IEA OMIM:606943 HPO Feb 17, 2009 +OMIM:606943 USHER SYNDROME, TYPE IG HP:0004646 Hypoplasia of the nasal bone IEA IEA OMIM:606943 HPO Feb 17, 2009 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608631.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608631.tab 2013-03-30 22:04:20 UTC (rev 4862) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608631.tab 2013-03-30 22:31:01 UTC (rev 4863) @@ -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:608631 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2 HP:0000717 Autism IEA IEA OMIM:608631 SKOEHLER 20.06.2010 -OMIM:608631 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2 HP:0000721 Lack of spontaneous play IEA IEA OMIM:608631 HPO 17.02.2009 -OMIM:608631 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2 HP:0000728 Impaired ability to form peer relationships IEA IEA OMIM:608631 HPO 17.02.2009 -OMIM:608631 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2 HP:0000732 Inflexible adherence to routines or rituals IEA IEA OMIM:608631 HPO 17.02.2009 -OMIM:608631 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2 HP:0000733 Stereotypic behavior ITM ITM OMIM:608631 HPO 17.02.2009 -OMIM:608631 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2 HP:0000758 Impaired use of nonverbal behaviors, such as eye-to-eye gaze, facial expression, body posture, and gestures IEA IEA OMIM:608631 HPO 17.02.2009 -OMIM:608631 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2 HP:0001420 Isolated cases IEA IEA OMIM:608631 HPO 17.02.2009 -OMIM:608631 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2 HP:0001426 Multifactorial inheritance IEA IEA OMIM:608631 HPO 17.02.2009 -OMIM:608631 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2 HP:0003621 Juvenile onset IEA IEA OMIM:608631 HPO 17.02.2009 -OMIM:608631 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2 HP:0005324 Disturbance of facial expression ITM ITM OMIM:608631 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:608631 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2 HP:0000717 Autism IEA IEA OMIM:608631 HPO:skoehler Jun 20, 2010 +OMIM:608631 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2 HP:0000721 Lack of spontaneous play IEA IEA OMIM:608631 HPO Feb 17, 2009 +OMIM:608631 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2 HP:0000728 Impaired ability to form peer relationships IEA IEA OMIM:608631 HPO Feb 17, 2009 +OMIM:608631 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2 HP:0000732 Inflexible adherence to routines or rituals IEA IEA OMIM:608631 HPO Feb 17, 2009 +OMIM:608631 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2 HP:0000733 Stereotypic behavior TAS TAS OMIM:608631 HPO:skoehler Feb 17, 2009 +OMIM:608631 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2 HP:0000758 Impaired use of nonverbal behaviors IEA IEA OMIM:608631 HPO Feb 17, 2009 +OMIM:608631 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2 HP:0001420 Isolated cases IEA IEA OMIM:608631 HPO Feb 17, 2009 +OMIM:608631 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2 HP:0001426 Multifactorial inheritance IEA IEA OMIM:608631 HPO Feb 17, 2009 +OMIM:608631 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2 HP:0003621 Juvenile onset IEA IEA OMIM:608631 HPO Feb 17, 2009 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609941.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609941.tab 2013-03-30 22:04:20 UTC (rev 4862) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609941.tab 2013-03-30 22:31:01 UTC (rev 4863) @@ -1,5 +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:609941 DEAFNESS, AUTOSOMAL RECESSIVE 51 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:609941 HPO 17.02.2009 -OMIM:609941 DEAFNESS, AUTOSOMAL RECESSIVE 51 HP:0000407 Sensorineural hearing impairment IEA IEA OMIM:609941 HPO 17.02.2009 -OMIM:609941 DEAFNESS, AUTOSOMAL RECESSIVE 51 HP:0008513 Bilateral conductive hearing impairment ITM ITM OMIM:609941 HPO 17.02.2009 -OMIM:609941 DEAFNESS, AUTOSOMAL RECESSIVE 51 HP:0008619 Bilateral sensorineural hearing impairment ITM ITM OMIM:609941 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:609941 DEAFNESS, AUTOSOMAL RECESSIVE 51 HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:609941 HPO:probinson Feb 17, 2009 +OMIM:609941 DEAFNESS, AUTOSOMAL RECESSIVE 51 HP:0000407 Sensorineural hearing impairment HP:0003593 Infantile onset TAS TAS OMIM:609941 HPO:probinson Feb 17, 2009 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611031.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611031.tab 2013-03-30 22:04:20 UTC (rev 4862) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611031.tab 2013-03-30 22:31:01 UTC (rev 4863) @@ -1,5 +1,6 @@ -Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created -OMIM:611031 EPISODIC KINESIGENIC DYSKINESIA 2 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:611031 HPO 17.02.2009 -OMIM:611031 EPISODIC KINESIGENIC DYSKINESIA 2 HP:0002072 Chorea ITM ITM OMIM:611031 HPO 17.02.2009 -OMIM:611031 EPISODIC KINESIGENIC DYSKINESIA 2 HP:0002412 Dystonia, episodic IEA IEA OMIM:611031 HPO 17.02.2009 -OMIM:611031 EPISODIC KINESIGENIC DYSKINESIA 2 HP:0003621 Juvenile onset IEA IEA OMIM:611031 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:611031 EPISODIC KINESIGENIC DYSKINESIA 2 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:611031 HPO Feb 17, 2009 +OMIM:611031 EPISODIC KINESIGENIC DYSKINESIA 2 HP:0002072 Chorea IEA IEA OMIM:611031 HPO Feb 17, 2009 +OMIM:611031 EPISODIC KINESIGENIC DYSKINESIA 2 HP:0001332 Dystonia TAS TAS OMIM:611031 HPO:probinson Feb 17, 2009 +OMIM:611031 EPISODIC KINESIGENIC DYSKINESIA 2 HP:0007166 Paroxysmal dyskinesia TAS TAS OMIM:611031 HPO:probinson Mar 30, 2013 +OMIM:611031 EPISODIC KINESIGENIC DYSKINESIA 2 HP:0004305 Involuntary movements TAS TAS OMIM:611031 HPO:probinson Mar 30, 2013 This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site. |