From: <pr...@us...> - 2013-02-23 11:27:36
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Revision: 4799 http://obo.svn.sourceforge.net/obo/?rev=4799&view=rev Author: probins Date: 2013-02-23 11:27:22 +0000 (Sat, 23 Feb 2013) Log Message: ----------- ITM revisions and a new entry Modified Paths: -------------- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-122100.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-150600.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-159100.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-167400.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-187750.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-189500.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-214400.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-231095.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-274700.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-278850.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-311050.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601217.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602092.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603165.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614279.tab Added Paths: ----------- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608175.tab Removed Paths: ------------- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-188450.tab Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-122100.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-122100.tab 2013-02-23 10:35:28 UTC (rev 4798) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-122100.tab 2013-02-23 11:27:22 UTC (rev 4799) @@ -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:122100 CORNEAL DYSTROPHY, JUVENILE EPITHELIAL, OF MEESMANN HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:122100 HPO 17.02.2009 -OMIM:122100 CORNEAL DYSTROPHY, JUVENILE EPITHELIAL, OF MEESMANN HP:0001131 Corneal dystrophy IEA IEA OMIM:122100 HPO 17.02.2009 -OMIM:122100 CORNEAL DYSTROPHY, JUVENILE EPITHELIAL, OF MEESMANN HP:0003680 Nonprogressive disorder ITM ITM OMIM:122100 HPO 17.02.2009 -OMIM:122100 CORNEAL DYSTROPHY, JUVENILE EPITHELIAL, OF MEESMANN HP:0007755 Juvenile epithelial corneal dystrophy ITM ITM OMIM:122100 HPO 17.02.2009 -OMIM:122100 CORNEAL DYSTROPHY, JUVENILE EPITHELIAL, OF MEESMANN HP:0007856 Punctate opacification of the cornea IEA IEA OMIM:122100 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:122100 CORNEAL DYSTROPHY, JUVENILE EPITHELIAL, OF MEESMANN HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:122100 HPO:probinson Feb 17, 2009 +OMIM:122100 CORNEAL DYSTROPHY, JUVENILE EPITHELIAL, OF MEESMANN HP:0001131 Corneal dystrophy TAS TAS OMIM:122100 HPO:probinson Feb 17, 2009 +OMIM:122100 CORNEAL DYSTROPHY, JUVENILE EPITHELIAL, OF MEESMANN HP:0003680 Nonprogressive disorder TAS TAS OMIM:122100 HPO:probinson Feb 17, 2009 +OMIM:122100 CORNEAL DYSTROPHY, JUVENILE EPITHELIAL, OF MEESMANN HP:0007856 Punctate opacification of the cornea TAS TAS OMIM:122100 HPO:probinson Feb 17, 2009 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-150600.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-150600.tab 2013-02-23 10:35:28 UTC (rev 4798) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-150600.tab 2013-02-23 11:27:22 UTC (rev 4799) @@ -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:150600 LEGG-CALVE-PERTHES DISEASE HP:0002750 Delayed skeletal maturation IEA IEA OMIM:150600 HPO 17.02.2009 -OMIM:150600 LEGG-CALVE-PERTHES DISEASE HP:0004322 Short stature IEA IEA OMIM:150600 HPO 17.02.2009 -OMIM:150600 LEGG-CALVE-PERTHES DISEASE HP:0005743 Avascular necrosis of the capital femoral epiphysis ITM ITM OMIM:150600 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:150600 LEGG-CALVE-PERTHES DISEASE HP:0002750 Delayed skeletal maturation TAS TAS OMIM:150600 HPO:skoehler Feb 17, 2009 +OMIM:150600 LEGG-CALVE-PERTHES DISEASE HP:0004322 Short stature TAS TAS OMIM:150600 HPO:skoehler Feb 17, 2009 +OMIM:150600 LEGG-CALVE-PERTHES DISEASE HP:0005743 Avascular necrosis of the capital femoral epiphysis TAS TAS OMIM:150600 HPO:skoehler Feb 17, 2009 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-159100.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-159100.tab 2013-02-23 10:35:28 UTC (rev 4798) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-159100.tab 2013-02-23 11:27:22 UTC (rev 4799) @@ -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:159100 MUSCULAR HYPOPLASIA, CONGENITAL UNIVERSAL, OF KRABBE HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:159100 HPO 17.02.2009 -OMIM:159100 MUSCULAR HYPOPLASIA, CONGENITAL UNIVERSAL, OF KRABBE HP:0001324 Muscle weakness IEA IEA OMIM:159100 SKOEHLER 20.06.2010 -OMIM:159100 MUSCULAR HYPOPLASIA, CONGENITAL UNIVERSAL, OF KRABBE HP:0001425 Heterogeneous IEA IEA OMIM:159100 HPO 17.02.2009 -OMIM:159100 MUSCULAR HYPOPLASIA, CONGENITAL UNIVERSAL, OF KRABBE HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:159100 HPO 17.02.2009 -OMIM:159100 MUSCULAR HYPOPLASIA, CONGENITAL UNIVERSAL, OF KRABBE HP:0009004 Hypoplasia of the musculature ITM ITM OMIM:159100 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:159100 MUSCULAR HYPOPLASIA, CONGENITAL UNIVERSAL, OF KRABBE HP:0001324 Muscle weakness TAS TAS OMIM:159100 HPO:skoehler Jun 20, 2010 +OMIM:159100 MUSCULAR HYPOPLASIA, CONGENITAL UNIVERSAL, OF KRABBE HP:0001425 Heterogeneous TAS TAS OMIM:159100 HPO:skoehler Feb 17, 2009 +OMIM:159100 MUSCULAR HYPOPLASIA, CONGENITAL UNIVERSAL, OF KRABBE HP:0004303 Abnormality of muscle fibers TAS TAS OMIM:159100 HPO:skoehler Feb 17, 2009 +OMIM:159100 MUSCULAR HYPOPLASIA, CONGENITAL UNIVERSAL, OF KRABBE HP:0009004 Hypoplasia of the musculature HP:0003577 Congenital onset TAS TAS OMIM:159100 HPO:skoehler Feb 17, 2009 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-167400.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-167400.tab 2013-02-23 10:35:28 UTC (rev 4798) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-167400.tab 2013-02-23 11:27:22 UTC (rev 4799) @@ -1,12 +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:167400 PAROXYSMAL EXTREME PAIN DISORDER HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:167400 HPO 17.02.2009 -OMIM:167400 PAROXYSMAL EXTREME PAIN DISORDER HP:0000632 Lacrimation abnormality IEA IEA OMIM:167400 SKOEHLER 17.02.2009 -OMIM:167400 PAROXYSMAL EXTREME PAIN DISORDER HP:0000707 Abnormality of the nervous system IEA IEA OMIM:167400 HPO 17.02.2009 -OMIM:167400 PAROXYSMAL EXTREME PAIN DISORDER HP:0000951 Abnormality of the skin IEA IEA OMIM:167400 HPO 17.02.2009 -OMIM:167400 PAROXYSMAL EXTREME PAIN DISORDER HP:0001438 Abnormality of the abdomen IEA IEA OMIM:167400 HPO 17.02.2009 -OMIM:167400 PAROXYSMAL EXTREME PAIN DISORDER HP:0001649 Tachycardia IEA IEA OMIM:167400 SKOEHLER 17.02.2009 -OMIM:167400 PAROXYSMAL EXTREME PAIN DISORDER HP:0001662 Bradycardia IEA IEA OMIM:167400 HPO 17.02.2009 -OMIM:167400 PAROXYSMAL EXTREME PAIN DISORDER HP:0003552 Muscle stiffness ITM ITM OMIM:167400 HPO 17.02.2009 -OMIM:167400 PAROXYSMAL EXTREME PAIN DISORDER HP:0003623 Neonatal onset ITM ITM OMIM:167400 HPO 17.02.2009 -OMIM:167400 PAROXYSMAL EXTREME PAIN DISORDER HP:0200025 mandibular pain IEA IEA OMIM:167400 SKOEHLER 17.02.2009 -OMIM:167400 PAROXYSMAL EXTREME PAIN DISORDER HP:0200026 ocular pain IEA IEA OMIM:167400 SKOEHLER 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:167400 PAROXYSMAL EXTREME PAIN DISORDER HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:167400 HPO:skoehler Feb 17, 2009 +OMIM:167400 PAROXYSMAL EXTREME PAIN DISORDER HP:0000632 Lacrimation abnormality IEA IEA OMIM:167400 HPO:skoehler Feb 17, 2009 +OMIM:167400 PAROXYSMAL EXTREME PAIN DISORDER HP:0007328 Impaired pain sensation IEA IEA OMIM:167400 HPO:skoehler Feb 17, 2009 +OMIM:167400 PAROXYSMAL EXTREME PAIN DISORDER HP:0001649 Tachycardia IEA IEA OMIM:167400 HPO:skoehler Feb 17, 2009 +OMIM:167400 PAROXYSMAL EXTREME PAIN DISORDER HP:0001662 Bradycardia IEA IEA OMIM:167400 HPO:skoehler Feb 17, 2009 +OMIM:167400 PAROXYSMAL EXTREME PAIN DISORDER HP:0003623 Neonatal onset TAS TAS OMIM:167400 HPO:skoehler Feb 17, 2009 +OMIM:167400 PAROXYSMAL EXTREME PAIN DISORDER HP:0200025 Mandibular pain IEA IEA OMIM:167400 HPO:skoehler Feb 17, 2009 +OMIM:167400 PAROXYSMAL EXTREME PAIN DISORDER HP:0200026 Ocular pain IEA IEA OMIM:167400 HPO:skoehler Feb 17, 2009 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-187750.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-187750.tab 2013-02-23 10:35:28 UTC (rev 4798) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-187750.tab 2013-02-23 11:27:22 UTC (rev 4799) @@ -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:187750 THORACIC DYSOSTOSIS, ISOLATED HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:187750 HPO 17.02.2009 -OMIM:187750 THORACIC DYSOSTOSIS, ISOLATED HP:0000767 Pectus excavatum IEA IEA OMIM:187750 HPO 17.02.2009 -OMIM:187750 THORACIC DYSOSTOSIS, ISOLATED HP:0000773 Short ribs ITM ITM OMIM:187750 HPO 17.02.2009 -OMIM:187750 THORACIC DYSOSTOSIS, ISOLATED HP:0002086 Abnormality of the respiratory system IEA IEA OMIM:187750 HPO 17.02.2009 -OMIM:187750 THORACIC DYSOSTOSIS, ISOLATED HP:0006664 Constricted, bell-shaped thorax IEA IEA OMIM:187750 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:187750 THORACIC DYSOSTOSIS, ISOLATED HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:187750 HPO:skoehler Feb 17, 2009 +OMIM:187750 THORACIC DYSOSTOSIS, ISOLATED HP:0000767 Pectus excavatum IEA IEA OMIM:187750 HPO:skoehler Feb 17, 2009 +OMIM:187750 THORACIC DYSOSTOSIS, ISOLATED HP:0000773 Short ribs TAS TAS OMIM:187750 HPO:skoehler Feb 17, 2009 +OMIM:187750 THORACIC DYSOSTOSIS, ISOLATED HP:0002205 Recurrent respiratory infections TAS TAS OMIM:187750 HPO:skoehler Feb 17, 2009 +OMIM:187750 THORACIC DYSOSTOSIS, ISOLATED HP:0006664 Constricted, bell-shaped thorax IEA IEA OMIM:187750 HPO:skoehler Feb 17, 2009 Deleted: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-188450.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-188450.tab 2013-02-23 10:35:28 UTC (rev 4798) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-188450.tab 2013-02-23 11:27:22 UTC (rev 4799) @@ -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:188450 THYROGLOBULIN HP:0000821 Hypothyroidism IEA IEA OMIM:188450 HPO 17.02.2009 -OMIM:188450 THYROGLOBULIN HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:188450 HPO 17.02.2009 -OMIM:188450 THYROGLOBULIN HP:0008251 Congenital goiter ITM ITM OMIM:188450 HPO 17.02.2009 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-189500.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-189500.tab 2013-02-23 10:35:28 UTC (rev 4798) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-189500.tab 2013-02-23 11:27:22 UTC (rev 4799) @@ -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 -MIM:189500 WITKOP SYNDROME MIM:142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1 MSX1 HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009 -MIM:189500 WITKOP SYNDROME MIM:142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1 MSX1 HP:0000691 Microdontia ITM ITM 17.02.2009 -MIM:189500 WITKOP SYNDROME MIM:142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1 MSX1 HP:0000951 Abnormality of the skin IEA IEA 17.02.2009 -MIM:189500 WITKOP SYNDROME MIM:142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1 MSX1 HP:0001598 Concave nail IEA IEA 17.02.2009 -MIM:189500 WITKOP SYNDROME MIM:142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1 MSX1 HP:0001807 Ridged nail IEA IEA 17.02.2009 -MIM:189500 WITKOP SYNDROME MIM:142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1 MSX1 HP:0001803 Nail pits IEA IEA 17.02.2009 -MIM:189500 WITKOP SYNDROME MIM:142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1 MSX1 HP:0001792 Small nail PCS PCS MIM:189500 17.02.2009 -MIM:189500 WITKOP SYNDROME MIM:142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1 MSX1 HP:0008070 Sparse hair PCS PCS MIM:189500 17.02.2009 -MIM:189500 WITKOP SYNDROME MIM:142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1 MSX1 HP:0002213 Fine hair PCS PCS MIM:189500 17.02.2009 -MIM:189500 WITKOP SYNDROME MIM:142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1 MSX1 HP:0006349 Agenesis of permanent teeth IEA IEA 17.02.2009 +MIM:189500 WITKOP SYNDROME MIM:142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1 MSX1 HP:0000006 Autosomal dominant inheritance IEA IEA MIM:189500 HPO:probinson Feb 17, 2009 +MIM:189500 WITKOP SYNDROME MIM:142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1 MSX1 HP:0006347 Microdontia of primary teeth TAS TAS Normal to small primary teeth MIM:189500 HPO:probinson Feb 17, 2009 +MIM:189500 WITKOP SYNDROME MIM:142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1 MSX1 HP:0000971 Abnormality of the sweat gland TAS TAS NOT NOT MIM:189500 HPO:probinson Feb 17, 2009 +MIM:189500 WITKOP SYNDROME MIM:142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1 MSX1 HP:0001598 Concave nail IEA IEA MIM:189500 HPO:probinson Feb 17, 2009 +MIM:189500 WITKOP SYNDROME MIM:142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1 MSX1 HP:0001807 Ridged nail IEA IEA MIM:189500 HPO:probinson Feb 17, 2009 +MIM:189500 WITKOP SYNDROME MIM:142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1 MSX1 HP:0001803 Nail pits IEA IEA MIM:189500 HPO:probinson Feb 17, 2009 +MIM:189500 WITKOP SYNDROME MIM:142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1 MSX1 HP:0001792 Small nail PCS PCS MIM:189500 HPO:probinson Feb 17, 2009 +MIM:189500 WITKOP SYNDROME MIM:142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1 MSX1 HP:0008070 Sparse hair PCS PCS MIM:189500 HPO:probinson Feb 17, 2009 +MIM:189500 WITKOP SYNDROME MIM:142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1 MSX1 HP:0002213 Fine hair PCS PCS MIM:189500 HPO:probinson Feb 17, 2009 +MIM:189500 WITKOP SYNDROME MIM:142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1 MSX1 HP:0006349 Agenesis of permanent teeth IEA IEA MIM:189500 HPO:probinson Feb 17, 2009 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-214400.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-214400.tab 2013-02-23 10:35:28 UTC (rev 4798) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-214400.tab 2013-02-23 11:27:22 UTC (rev 4799) @@ -1,23 +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 -MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009 -MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0003431 Decreased motor nerve conduction velocity (NCV) IEA IEA 17.02.2009 -MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0000764 Axonal degeneration PCS PCS MIM:214400 probinson 17.02.2009 -MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0001178 Claw hand deformities (in severe cases) IEA IEA 17.02.2009 -MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0001265 Hyporeflexia IEA IEA 17.02.2009 -MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0001270 Motor delay IEA IEA 17.02.2009 -MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0001284 Areflexia IEA IEA 17.02.2009 -MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0001425 Heterogeneous ITM ITM 17.02.2009 -MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0001760 Abnormality of the feet IEA IEA 17.02.2009 -MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0002934 Distal limb muscle atrophy due to peripheral neuropathy IEA IEA 17.02.2009 -MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0002935 Distal limb muscle weakness due to peripheral neuropathy IEA IEA 17.02.2009 -MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0002936 Distal sensory impairment IEA IEA 17.02.2009 -MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0003380 Decreased number of peripheral myelinated nerve fibers IEA IEA 17.02.2009 -MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0003382 Hypertrophic nerve changes IEA IEA 17.02.2009 -MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0003400 Basal lamina 'onion bulb' formation IEA IEA 17.02.2009 -MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0002751 Kyphoscoliosis IEA IEA Frequent MIM:214400 probinson 17.02.2009 -MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0007182 Peripheral hypomyelination IEA IEA 17.02.2009 -MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0003593 Infantile onset IEA IEA 17.02.2009 -MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0003678 Rapidly progressive ITM ITM 17.02.2009 -MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0003693 Distal amyotrophy ITM ITM 17.02.2009 -MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0006915 Inability to walk by childhood/adolescence IEA IEA 17.02.2009 -OMIM:214400 #214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A;;CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE;;CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4A HP:0003429 Hypomyelination IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > HYPOMYELINATION OMIM:214400 HPO:skoehler 17.10.2012 +MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0000007 Autosomal recessive inheritance IEA IEA MIM:214400 HPO:probinson Feb 17, 2009 +MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0003431 Decreased motor nerve conduction velocity IEA IEA MIM:214400 HPO:probinson Feb 17, 2009 +MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0000764 Peripheral axonal degeneration PCS PCS MIM:214400 HPO:probinson Feb 17, 2009 +MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0001178 Ulnar claw IEA IEA MIM:214400 HPO:probinson Feb 17, 2009 +MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0001265 Hyporeflexia IEA IEA MIM:214400 HPO:probinson Feb 17, 2009 +MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0001270 Motor delay IEA IEA MIM:214400 HPO:probinson Feb 17, 2009 +MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0001284 Areflexia IEA IEA MIM:214400 HPO:probinson Feb 17, 2009 +MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0001760 Abnormality of the foot IEA IEA MIM:214400 HPO:probinson Feb 17, 2009 +MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0002935 Distal limb muscle weakness due to peripheral neuropathy IEA IEA MIM:214400 HPO:probinson Feb 17, 2009 +MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0003380 Decreased number of peripheral myelinated nerve fibers IEA IEA MIM:214400 HPO:probinson Feb 17, 2009 +MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0003382 Hypertrophic nerve changes IEA IEA MIM:214400 HPO:probinson Feb 17, 2009 +MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0003400 Basal lamina 'onion bulb' formation IEA IEA MIM:214400 HPO:probinson Feb 17, 2009 +MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0002751 Kyphoscoliosis IEA IEA Frequent MIM:214400 HPO:probinson Feb 17, 2009 +MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0007182 Peripheral hypomyelination IEA IEA MIM:214400 HPO:probinson Feb 17, 2009 +MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0003593 Infantile onset IEA IEA MIM:214400 HPO:probinson Feb 17, 2009 +MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0003678 Rapidly progressive TAS TAS MIM:214400 HPO:probinson Feb 17, 2009 +MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0003693 Distal amyotrophy TAS TAS MIM:214400 HPO:probinson Feb 17, 2009 +MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0006915 Inability to walk by childhood/adolescence IEA IEA MIM:214400 HPO:probinson Feb 17, 2009 +OMIM:214400 #214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A;;CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE;;CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4A GDAP1 HP:0003429 Hypomyelination IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > HYPOMYELINATION MIM:214400 HPO:skoehler Oct 17, 2012 +MIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A MIM:606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1 GDAP1 HP:0002460 Distal muscle weakness TAS TAS MIM:214400 HPO:probinson Feb 23, 2013 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-231095.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-231095.tab 2013-02-23 10:35:28 UTC (rev 4798) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-231095.tab 2013-02-23 11:27:22 UTC (rev 4799) @@ -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:231095 GHOSAL HEMATODIAPHYSEAL DYSPLASIA HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:231095 HPO 17.02.2009 -OMIM:231095 GHOSAL HEMATODIAPHYSEAL DYSPLASIA HP:0001873 Thrombocytopenia IEA IEA OMIM:231095 HPO 17.02.2009 -OMIM:231095 GHOSAL HEMATODIAPHYSEAL DYSPLASIA HP:0001882 Leukopenia IEA IEA OMIM:231095 HPO 17.02.2009 -OMIM:231095 GHOSAL HEMATODIAPHYSEAL DYSPLASIA HP:0003034 Diaphyseal sclerosis ITM ITM OMIM:231095 HPO 17.02.2009 -OMIM:231095 GHOSAL HEMATODIAPHYSEAL DYSPLASIA HP:0003812 Phenotypic variability IEA IEA OMIM:231095 SKOEHLER 19.06.2010 -OMIM:231095 GHOSAL HEMATODIAPHYSEAL DYSPLASIA HP:0005505 Refractory anemia IEA IEA OMIM:231095 HPO 17.02.2009 -OMIM:231095 GHOSAL HEMATODIAPHYSEAL DYSPLASIA HP:0005528 Bone marrow hypoplasia ITM ITM OMIM:231095 HPO 17.02.2009 -OMIM:231095 GHOSAL HEMATODIAPHYSEAL DYSPLASIA HP:0011001 Increased bone mineral density IEA IEA OMIM:231095 SKOEHLER 18.06.2010 -OMIM:231095 #231095 GHOSAL HEMATODIAPHYSEAL DYSPLASIA; GHDD;;GHOSAL SYNDROME HP:0011974 Myelofibrosis IEA IEA OMIM-CS:HEMATOLOGY > MYELOFIBROSIS OMIM:231095 HPO:skoehler 17.10.2012 -OMIM:231095 #231095 GHOSAL HEMATODIAPHYSEAL DYSPLASIA; GHDD;;GHOSAL SYNDROME HP:0100252 Diaphyseal dysplasia IEA IEA OMIM-CS:SKELETAL_LIMBS > DIAPHYSEAL DYSPLASIA OMIM:231095 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:231095 GHOSAL HEMATODIAPHYSEAL DYSPLASIA HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:231095 HPO:skoehler Feb 17, 2009 +OMIM:231095 GHOSAL HEMATODIAPHYSEAL DYSPLASIA HP:0001873 Thrombocytopenia TAS TAS OMIM:231095 HPO:skoehler Feb 17, 2009 +OMIM:231095 GHOSAL HEMATODIAPHYSEAL DYSPLASIA HP:0005890 Hyperostosis cranialis interna TAS TAS Rare OMIM:231095 HPO:skoehler Feb 17, 2009 +OMIM:231095 GHOSAL HEMATODIAPHYSEAL DYSPLASIA HP:0005505 Refractory anemia TAS TAS OMIM:231095 HPO:skoehler Feb 17, 2009 +OMIM:231095 GHOSAL HEMATODIAPHYSEAL DYSPLASIA HP:0005528 Bone marrow hypocellularity TAS TAS OMIM:231095 HPO:skoehler Feb 17, 2009 +OMIM:231095 #231095 GHOSAL HEMATODIAPHYSEAL DYSPLASIA; GHDD;;GHOSAL SYNDROME HP:0011974 Myelofibrosis TAS TAS OMIM:231095 HPO:skoehler Oct 17, 2012 +OMIM:231095 #231095 GHOSAL HEMATODIAPHYSEAL DYSPLASIA; GHDD;;GHOSAL SYNDROME HP:0011974 Myelofibrosis TAS TAS OMIM:231095 HPO:skoehler Oct 17, 2012 +OMIM:231095 #231095 GHOSAL HEMATODIAPHYSEAL DYSPLASIA; GHDD;;GHOSAL SYNDROME HP:0100252 Diaphyseal dysplasia TAS TAS OMIM:231095 HPO:skoehler Oct 17, 2012 +OMIM:231095 GHOSAL HEMATODIAPHYSEAL DYSPLASIA HP:0005890 Hyperostosis cranialis interna IEA IEA OMIM:231095 HPO:skoehler Feb 23, 2013 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-274700.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-274700.tab 2013-02-23 10:35:28 UTC (rev 4798) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-274700.tab 2013-02-23 11:27:22 UTC (rev 4799) @@ -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:274700 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:274700 HPO 17.02.2009 -OMIM:274700 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3 HP:0000853 Goiter IEA IEA OMIM:274700 HPO 17.02.2009 -OMIM:274700 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3 HP:0001249 Intellectual disability IEA IEA OMIM:274700 HPO 17.02.2009 -OMIM:274700 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3 HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:274700 HPO 17.02.2009 -OMIM:274700 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3 HP:0002664 Neoplasm IEA IEA OMIM:274700 SKOEHLER 18.06.2010 -OMIM:274700 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3 HP:0008223 Compensated hypothyroidism IEA IEA OMIM:274700 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:274700 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3 HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:274700 HPO:skoehler Feb 17, 2009 +OMIM:274700 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3 HP:0000853 Goiter TAS TAS OMIM:274700 HPO:skoehler Feb 17, 2009 +OMIM:274700 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3 HP:0001249 Intellectual disability TAS TAS OMIM:274700 HPO:skoehler Feb 17, 2009 +OMIM:274700 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3 HP:0002890 Thyroid carcinoma TAS TAS OMIM:274700 HPO:skoehler Jun 18, 2010 +OMIM:274700 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3 HP:0008223 Compensated hypothyroidism TAS TAS OMIM:274700 HPO:skoehler Jun 20, 2010 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-278850.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-278850.tab 2013-02-23 10:35:28 UTC (rev 4798) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-278850.tab 2013-02-23 11:27:22 UTC (rev 4799) @@ -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:278850 XX MALE SYNDROME HP:0000044 Hypogonadotrophic hypogonadism ITM ITM OMIM:278850 HPO 17.02.2009 -OMIM:278850 XX MALE SYNDROME HP:0000815 Hypergonadotropic hypogonadism ITM ITM OMIM:278850 HPO 17.02.2009 -OMIM:278850 XX MALE SYNDROME HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:278850 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:278850 XX MALE SYNDROME HP:0010459 True hermaphroditism TAS TAS OMIM:278850 HPO Feb 23, 2013 +OMIM:278850 XX MALE SYNDROME HP:0000027 Azoospermia TAS TAS OMIM:278850 HPO Feb 23, 2013 +OMIM:278850 XX MALE SYNDROME HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:278850 HPO Feb 23, 2013 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-311050.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-311050.tab 2013-02-23 10:35:28 UTC (rev 4798) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-311050.tab 2013-02-23 11:27:22 UTC (rev 4799) @@ -1,12 +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:311050 OPTIC ATROPHY 2 HP:0000648 Optic atrophy IEA IEA OMIM:311050 SKOEHLER 20.06.2010 -OMIM:311050 OPTIC ATROPHY 2 HP:0000752 Hyperactivity ITM ITM OMIM:311050 HPO 17.02.2009 -OMIM:311050 OPTIC ATROPHY 2 HP:0001249 Intellectual disability IEA IEA OMIM:311050 HPO 17.02.2009 -OMIM:311050 OPTIC ATROPHY 2 HP:0001260 Dysarthria IEA IEA OMIM:311050 HPO 17.02.2009 -OMIM:311050 OPTIC ATROPHY 2 HP:0001337 Tremor IEA IEA OMIM:311050 HPO 17.02.2009 -OMIM:311050 OPTIC ATROPHY 2 HP:0001417 X-linked inheritance IEA IEA OMIM:311050 HPO 17.02.2009 -OMIM:311050 OPTIC ATROPHY 2 HP:0002075 Dysdiadochokinesis IEA IEA OMIM:311050 HPO 17.02.2009 -OMIM:311050 OPTIC ATROPHY 2 HP:0002487 Hyperkinesis ITM ITM OMIM:311050 HPO 17.02.2009 -OMIM:311050 OPTIC ATROPHY 2 HP:0003438 Absent Achilles reflex ITM ITM OMIM:311050 HPO 17.02.2009 -OMIM:311050 OPTIC ATROPHY 2 HP:0003487 Babinski sign IEA IEA OMIM:311050 HPO 17.02.2009 -OMIM:311050 OPTIC ATROPHY 2 HP:0003593 Infantile onset ITM ITM OMIM:311050 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:311050 OPTIC ATROPHY 2 HP:0000648 Optic atrophy TAS TAS OMIM:311050 HPO:skoehler Jun 20, 2010 +OMIM:311050 OPTIC ATROPHY 2 HP:0001249 Intellectual disability TAS TAS OMIM:311050 HPO:skoehler Feb 17, 2009 +OMIM:311050 OPTIC ATROPHY 2 HP:0001260 Dysarthria TAS TAS OMIM:311050 HPO:skoehler Feb 17, 2009 +OMIM:311050 OPTIC ATROPHY 2 HP:0001337 Tremor TAS TAS OMIM:311050 HPO:skoehler Feb 17, 2009 +OMIM:311050 OPTIC ATROPHY 2 HP:0001417 X-linked inheritance TAS TAS OMIM:311050 HPO:skoehler Feb 17, 2009 +OMIM:311050 OPTIC ATROPHY 2 HP:0002075 Dysdiadochokinesis TAS TAS OMIM:311050 HPO:skoehler Feb 17, 2009 +OMIM:311050 OPTIC ATROPHY 2 HP:0003438 Absent Achilles reflex TAS TAS OMIM:311050 HPO:skoehler Feb 17, 2009 +OMIM:311050 OPTIC ATROPHY 2 HP:0003487 Babinski sign TAS TAS OMIM:311050 HPO:skoehler Feb 17, 2009 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601217.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601217.tab 2013-02-23 10:35:28 UTC (rev 4798) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601217.tab 2013-02-23 11:27:22 UTC (rev 4799) @@ -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:601217 ALOPECIA-MENTAL RETARDATION SYNDROME WITH CONVULSIONS AND HYPERGONADOTROPICHYPOGONADISM HP:0000054 Micropenis IEA IEA OMIM:601217 HPO 17.02.2009 -OMIM:601217 ALOPECIA-MENTAL RETARDATION SYNDROME WITH CONVULSIONS AND HYPERGONADOTROPICHYPOGONADISM HP:0000815 Hypergonadotropic hypogonadism IEA IEA OMIM:601217 HPO 17.02.2009 -OMIM:601217 ALOPECIA-MENTAL RETARDATION SYNDROME WITH CONVULSIONS AND HYPERGONADOTROPICHYPOGONADISM HP:0001250 Seizures ITM ITM OMIM:601217 HPO 17.02.2009 -OMIM:601217 ALOPECIA-MENTAL RETARDATION SYNDROME WITH CONVULSIONS AND HYPERGONADOTROPICHYPOGONADISM HP:0001256 Intellectual disability, mild IEA IEA OMIM:601217 HPO 17.02.2009 -OMIM:601217 ALOPECIA-MENTAL RETARDATION SYNDROME WITH CONVULSIONS AND HYPERGONADOTROPICHYPOGONADISM HP:0001596 Alopecia IEA IEA OMIM:601217 SKOEHLER 20.06.2010 -OMIM:601217 ALOPECIA-MENTAL RETARDATION SYNDROME WITH CONVULSIONS AND HYPERGONADOTROPICHYPOGONADISM HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:601217 HPO 17.02.2009 -OMIM:601217 ALOPECIA-MENTAL RETARDATION SYNDROME WITH CONVULSIONS AND HYPERGONADOTROPICHYPOGONADISM HP:0002224 Woolly hair ITM ITM OMIM:601217 HPO 17.02.2009 -OMIM:601217 ALOPECIA-MENTAL RETARDATION SYNDROME WITH CONVULSIONS AND HYPERGONADOTROPICHYPOGONADISM HP:0008734 Decreased testicular size IEA IEA OMIM:601217 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:601217 ALOPECIA-MENTAL RETARDATION SYNDROME WITH CONVULSIONS AND HYPERGONADOTROPICHYPOGONADISM HP:0000054 Micropenis TAS TAS OMIM:601217 HPO Feb 17, 2009 +OMIM:601217 ALOPECIA-MENTAL RETARDATION SYNDROME WITH CONVULSIONS AND HYPERGONADOTROPICHYPOGONADISM HP:0000815 Hypergonadotropic hypogonadism IEA IEA OMIM:601217 HPO Feb 17, 2009 +OMIM:601217 ALOPECIA-MENTAL RETARDATION SYNDROME WITH CONVULSIONS AND HYPERGONADOTROPICHYPOGONADISM HP:0001250 Seizures HP:0003593 Infantile onset TAS TAS Seizures cease by age 4 years OMIM:601217 HPO Feb 17, 2009 +OMIM:601217 ALOPECIA-MENTAL RETARDATION SYNDROME WITH CONVULSIONS AND HYPERGONADOTROPICHYPOGONADISM HP:0001256 Intellectual disability, mild IEA IEA OMIM:601217 HPO Feb 17, 2009 +OMIM:601217 ALOPECIA-MENTAL RETARDATION SYNDROME WITH CONVULSIONS AND HYPERGONADOTROPICHYPOGONADISM HP:0001596 Alopecia IEA IEA OMIM:601217 SKOEHLER Jun 20, 2010 +OMIM:601217 ALOPECIA-MENTAL RETARDATION SYNDROME WITH CONVULSIONS AND HYPERGONADOTROPICHYPOGONADISM HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:601217 HPO Feb 17, 2009 +OMIM:601217 ALOPECIA-MENTAL RETARDATION SYNDROME WITH CONVULSIONS AND HYPERGONADOTROPICHYPOGONADISM HP:0002224 Woolly hair HP:0003621 Juvenile onset TAS TAS OMIM:601217 HPO Feb 17, 2009 +OMIM:601217 ALOPECIA-MENTAL RETARDATION SYNDROME WITH CONVULSIONS AND HYPERGONADOTROPICHYPOGONADISM HP:0008734 Decreased testicular size TAS TAS OMIM:601217 HPO Feb 17, 2009 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602092.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602092.tab 2013-02-23 10:35:28 UTC (rev 4798) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602092.tab 2013-02-23 11:27:22 UTC (rev 4799) @@ -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:602092 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 18 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:602092 HPO 17.02.2009 -OMIM:602092 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 18 HP:0000407 Sensorineural hearing impairment IEA IEA OMIM:602092 SKOEHLER 18.06.2010 -OMIM:602092 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 18 HP:0008513 Bilateral conductive hearing impairment ITM ITM OMIM:602092 HPO 17.02.2009 -OMIM:602092 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 18 HP:0008619 Bilateral sensorineural hearing impairment ITM ITM OMIM:602092 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:602092 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 18 HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:602092 HPO Feb 17, 2009 +OMIM:602092 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 18 HP:0000407 Sensorineural hearing impairment TAS TAS OMIM:602092 SKOEHLER Jun 18, 2010 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603165.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603165.tab 2013-02-23 10:35:28 UTC (rev 4798) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603165.tab 2013-02-23 11:27:22 UTC (rev 4799) @@ -1,16 +1,16 @@ -Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created -OMIM:603165 DERMATITIS, ATOPIC HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:603165 HPO 17.02.2009 -OMIM:603165 DERMATITIS, ATOPIC HP:0000509 Conjunctivitis IEA IEA OMIM:603165 HPO 17.02.2009 -OMIM:603165 DERMATITIS, ATOPIC HP:0000518 Cataract IEA IEA OMIM:603165 HPO 17.02.2009 -OMIM:603165 DERMATITIS, ATOPIC HP:0000563 Keratoconus IEA IEA OMIM:603165 HPO 17.02.2009 -OMIM:603165 DERMATITIS, ATOPIC HP:0000958 Dry skin IEA IEA OMIM:603165 HPO 17.02.2009 -OMIM:603165 DERMATITIS, ATOPIC HP:0000964 Eczema IEA IEA OMIM:603165 HPO 17.02.2009 -OMIM:603165 DERMATITIS, ATOPIC HP:0000980 Pallor IEA IEA OMIM:603165 SKOEHLER 20.06.2010 -OMIM:603165 DERMATITIS, ATOPIC HP:0000989 Pruritus ITM ITM OMIM:603165 HPO 17.02.2009 -OMIM:603165 DERMATITIS, ATOPIC HP:0001041 Facial erythema IEA IEA OMIM:603165 HPO 17.02.2009 -OMIM:603165 DERMATITIS, ATOPIC HP:0001581 Recurrent skin infections IEA IEA OMIM:603165 HPO 17.02.2009 -OMIM:603165 DERMATITIS, ATOPIC HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:603165 HPO 17.02.2009 -OMIM:603165 DERMATITIS, ATOPIC HP:0002099 Asthma IEA IEA OMIM:603165 HPO 17.02.2009 -OMIM:603165 DERMATITIS, ATOPIC HP:0003193 Allergic rhinitis IEA IEA OMIM:603165 HPO 17.02.2009 -OMIM:603165 DERMATITIS, ATOPIC HP:0007453 Flexural lichenification IEA IEA OMIM:603165 HPO 17.02.2009 -OMIM:603165 DERMATITIS, ATOPIC HP:0008064 Ichthyosiform abnormality of the skin IEA IEA OMIM:603165 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:603165 DERMATITIS, ATOPIC HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:603165 HPO Feb 17, 2009 +OMIM:603165 DERMATITIS, ATOPIC HP:0000509 Conjunctivitis IEA IEA OMIM:603165 HPO Feb 17, 2009 +OMIM:603165 DERMATITIS, ATOPIC HP:0000518 Cataract IEA IEA OMIM:603165 HPO Feb 17, 2009 +OMIM:603165 DERMATITIS, ATOPIC HP:0000563 Keratoconus IEA IEA OMIM:603165 HPO Feb 17, 2009 +OMIM:603165 DERMATITIS, ATOPIC HP:0000958 Dry skin IEA IEA OMIM:603165 HPO Feb 17, 2009 +OMIM:603165 DERMATITIS, ATOPIC HP:0000964 Eczema IEA IEA OMIM:603165 HPO Feb 17, 2009 +OMIM:603165 DERMATITIS, ATOPIC HP:0000980 Pallor IEA IEA OMIM:603165 HPO:skoehler Jun 20, 2010 +OMIM:603165 DERMATITIS, ATOPIC HP:0000989 Pruritus TAS TAS OMIM:603165 HPO:skoehler Feb 17, 2009 +OMIM:603165 DERMATITIS, ATOPIC HP:0001041 Facial erythema IEA IEA OMIM:603165 HPO Feb 17, 2009 +OMIM:603165 DERMATITIS, ATOPIC HP:0001581 Recurrent skin infections IEA IEA OMIM:603165 HPO Feb 17, 2009 +OMIM:603165 DERMATITIS, ATOPIC HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:603165 HPO Feb 17, 2009 +OMIM:603165 DERMATITIS, ATOPIC HP:0002099 Asthma IEA IEA OMIM:603165 HPO Feb 17, 2009 +OMIM:603165 DERMATITIS, ATOPIC HP:0003193 Allergic rhinitis IEA IEA OMIM:603165 HPO Feb 17, 2009 +OMIM:603165 DERMATITIS, ATOPIC HP:0007453 Flexural lichenification IEA IEA OMIM:603165 HPO Feb 17, 2009 +OMIM:603165 DERMATITIS, ATOPIC HP:0008064 Ichthyosiform abnormality of the skin IEA IEA OMIM:603165 HPO Feb 17, 2009 Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608175.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608175.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608175.tab 2013-02-23 11:27:22 UTC (rev 4799) @@ -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 +MIM:608175 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3 HP:0100646 Thyroiditis MIM:608175 HPO:probinson Feb 23, 2013 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614279.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614279.tab 2013-02-23 10:35:28 UTC (rev 4798) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614279.tab 2013-02-23 11:27:22 UTC (rev 4799) @@ -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:614279 #614279 46,XY SEX REVERSAL 8; SRXY8;;MALE PSEUDOHERMAPHRODITISM DUE TO DEFICIENCY OF TESTICULAR 17,20-DESMOLASE;TDD HP:0000062 Ambiguous genitalia IEA IEA OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > AMBIGUOUS EXTERNAL GENITALIA OMIM:614279 HPO:skoehler 17.10.2012 -OMIM:614279 #614279 46,XY SEX REVERSAL 8; SRXY8;;MALE PSEUDOHERMAPHRODITISM DUE TO DEFICIENCY OF TESTICULAR 17,20-DESMOLASE;TDD HP:0000028 Cryptorchidism IEA IEA OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > UNDESCENDED TESTES OMIM:614279 HPO:skoehler 17.10.2012 -OMIM:614279 #614279 46,XY SEX REVERSAL 8; SRXY8;;MALE PSEUDOHERMAPHRODITISM DUE TO DEFICIENCY OF TESTICULAR 17,20-DESMOLASE;TDD HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:614279 HPO:skoehler 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:614279 #614279 46,XY SEX REVERSAL 8; SRXY8;;MALE PSEUDOHERMAPHRODITISM DUE TO DEFICIENCY OF TESTICULAR 17,20-DESMOLASE;TDD HP:0000062 Ambiguous genitalia IEA IEA OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > AMBIGUOUS EXTERNAL GENITALIA OMIM:614279 HPO:skoehler Oct 17, 2012 +OMIM:614279 #614279 46,XY SEX REVERSAL 8; SRXY8;;MALE PSEUDOHERMAPHRODITISM DUE TO DEFICIENCY OF TESTICULAR 17,20-DESMOLASE;TDD HP:0000028 Cryptorchidism IEA IEA OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > UNDESCENDED TESTES OMIM:614279 HPO:skoehler Oct 17, 2012 +OMIM:614279 #614279 46,XY SEX REVERSAL 8; SRXY8;;MALE PSEUDOHERMAPHRODITISM DUE TO DEFICIENCY OF TESTICULAR 17,20-DESMOLASE;TDD HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:614279 HPO:skoehler Oct 17, 2012 This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site. |