From: <koe...@us...> - 2012-12-03 10:24:37
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Revision: 4687 http://obo.svn.sourceforge.net/obo/?rev=4687&view=rev Author: koehlers Date: 2012-12-03 10:24:24 +0000 (Mon, 03 Dec 2012) Log Message: ----------- annotation updates transferred from OMIM.txt based on hudson job Added Paths: ----------- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603387.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604391.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609981.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613862.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614750.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614809.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614844.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614845.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614851.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614861.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614897.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614926.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614932.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614934.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614935.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614937.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614944.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614945.tab Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603387.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603387.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603387.tab 2012-12-03 10:24:24 UTC (rev 4687) @@ -0,0 +1,21 @@ +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:603387 #603387 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME;MPPH;;MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME;;MEG-PMG-MEGACC SYNDROME;;MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT HP:0001631 Defect in the atrial septum IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > ATRIAL SEPTAL DEFECT OMIM:603387 HPO:skoehler 02.12.2012 +OMIM:603387 #603387 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME;MPPH;;MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME;;MEG-PMG-MEGACC SYNDROME;;MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT HP:0010775 Vascular ring IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > VASCULAR RING OMIM:603387 HPO:skoehler 02.12.2012 +OMIM:603387 #603387 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME;MPPH;;MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME;;MEG-PMG-MEGACC SYNDROME;;MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT HP:0001629 Ventricular septal defect IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > VENTRICULAR SEPTAL DEFECT OMIM:603387 HPO:skoehler 02.12.2012 +OMIM:603387 #603387 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME;MPPH;;MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME;;MEG-PMG-MEGACC SYNDROME;;MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT HP:0000618 Blindness IEA IEA OMIM-CS:HEAD AND NECK_EYES > BLINDNESS OMIM:603387 HPO:skoehler 02.12.2012 +OMIM:603387 #603387 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME;MPPH;;MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME;;MEG-PMG-MEGACC SYNDROME;;MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT HP:0001090 Large eyes IEA IEA OMIM-CS:HEAD AND NECK_EYES > LARGE EYES OMIM:603387 HPO:skoehler 02.12.2012 +OMIM:603387 #603387 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME;MPPH;;MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME;;MEG-PMG-MEGACC SYNDROME;;MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT HP:0000637 Long palpebral fissure IEA IEA OMIM-CS:HEAD AND NECK_EYES > WIDE PALPEBRAL FISSURES OMIM:603387 HPO:skoehler 02.12.2012 +OMIM:603387 #603387 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME;MPPH;;MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME;;MEG-PMG-MEGACC SYNDROME;;MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT HP:0002007 Frontal bossing IEA IEA OMIM-CS:HEAD AND NECK_FACE > FRONTAL BOSSING OMIM:603387 HPO:skoehler 02.12.2012 +OMIM:603387 #603387 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME;MPPH;;MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME;;MEG-PMG-MEGACC SYNDROME;;MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT HP:0000256 Macrocephaly IEA IEA OMIM-CS:HEAD AND NECK_HEAD > MACROCEPHALY OMIM:603387 HPO:skoehler 02.12.2012 +OMIM:603387 #603387 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME;MPPH;;MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME;;MEG-PMG-MEGACC SYNDROME;;MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT OMIM:603387 HPO:skoehler 02.12.2012 +OMIM:603387 #603387 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME;MPPH;;MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME;;MEG-PMG-MEGACC SYNDROME;;MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT HP:0003202 Amyotrophy IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE ATROPHY OMIM:603387 HPO:skoehler 02.12.2012 +OMIM:603387 #603387 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME;MPPH;;MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME;;MEG-PMG-MEGACC SYNDROME;;MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT HP:0008936 Muscular hypotonia of the trunk IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > AXIAL HYPOTONIA OMIM:603387 HPO:skoehler 02.12.2012 +OMIM:603387 #603387 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME;MPPH;;MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME;;MEG-PMG-MEGACC SYNDROME;;MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DEVELOPMENTAL DELAY OMIM:603387 HPO:skoehler 02.12.2012 +OMIM:603387 #603387 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME;MPPH;;MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME;;MEG-PMG-MEGACC SYNDROME;;MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT HP:0000238 Hydrocephalus IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYDROCEPHALUS OMIM:603387 HPO:skoehler 02.12.2012 +OMIM:603387 #603387 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME;MPPH;;MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME;;MEG-PMG-MEGACC SYNDROME;;MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT HP:0001355 Megalencephaly IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MEGALENCEPHALY OMIM:603387 HPO:skoehler 02.12.2012 +OMIM:603387 #603387 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME;MPPH;;MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME;;MEG-PMG-MEGACC SYNDROME;;MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT HP:0002187 Intellectual disability, profound IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, PROFOUND OMIM:603387 HPO:skoehler 02.12.2012 +OMIM:603387 #603387 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME;MPPH;;MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME;;MEG-PMG-MEGACC SYNDROME;;MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT HP:0002126 Polymicrogyria IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > POLYMICROGYRIA OMIM:603387 HPO:skoehler 02.12.2012 +OMIM:603387 #603387 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME;MPPH;;MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME;;MEG-PMG-MEGACC SYNDROME;;MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT HP:0001250 Seizures IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES OMIM:603387 HPO:skoehler 02.12.2012 +OMIM:603387 #603387 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME;MPPH;;MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME;;MEG-PMG-MEGACC SYNDROME;;MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT HP:0007074 Thick corpus callosum IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > THICK CORPUS CALLOSUM OMIM:603387 HPO:skoehler 02.12.2012 +OMIM:603387 #603387 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME;MPPH;;MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME;;MEG-PMG-MEGACC SYNDROME;;MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT HP:0100259 Postaxial polydactyly IEA IEA OMIM-CS:SKELETAL_HANDS > POSTAXIAL POLYDACTYLY OMIM:603387 HPO:skoehler 02.12.2012 +OMIM:603387 #603387 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME;MPPH;;MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME;;MEG-PMG-MEGACC SYNDROME;;MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT HP:0002808 Kyphosis IEA IEA OMIM-CS:SKELETAL_SPINE > KYPHOSIS OMIM:603387 HPO:skoehler 02.12.2012 Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603387.tab ___________________________________________________________________ Added: svn:executable + * Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604391.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604391.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604391.tab 2012-12-03 10:24:24 UTC (rev 4687) @@ -0,0 +1,15 @@ +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:604391 #604391 ATAXIA-TELANGIECTASIA-LIKE DISORDER; ATLD HP:0000640 Gaze-evoked nystagmus IEA IEA OMIM-CS:HEAD AND NECK_EYES > GAZE-EVOKED NYSTAGMUS OMIM:604391 HPO:skoehler 02.12.2012 +OMIM:604391 #604391 ATAXIA-TELANGIECTASIA-LIKE DISORDER; ATLD HP:0000571 Hypometric saccades IEA IEA OMIM-CS:HEAD AND NECK_EYES > HYPOMETRIC SACCADES OMIM:604391 HPO:skoehler 02.12.2012 +OMIM:604391 #604391 ATAXIA-TELANGIECTASIA-LIKE DISORDER; ATLD HP:0007772 Impaired smooth pursuit IEA IEA OMIM-CS:HEAD AND NECK_EYES > IMPAIRED SMOOTH PURSUIT OMIM:604391 HPO:skoehler 02.12.2012 +OMIM:604391 #604391 ATAXIA-TELANGIECTASIA-LIKE DISORDER; ATLD HP:0000657 Oculomotor apraxia IEA IEA OMIM-CS:HEAD AND NECK_EYES > OCULOMOTOR APRAXIA OMIM:604391 HPO:skoehler 02.12.2012 +OMIM:604391 #604391 ATAXIA-TELANGIECTASIA-LIKE DISORDER; ATLD HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:604391 HPO:skoehler 02.12.2012 +OMIM:604391 #604391 ATAXIA-TELANGIECTASIA-LIKE DISORDER; ATLD HP:0003676 Progressive disorder IEA IEA OMIM-CS:MISCELLANEOUS > PROGRESSIVE DISORDER OMIM:604391 HPO:skoehler 02.12.2012 +OMIM:604391 #604391 ATAXIA-TELANGIECTASIA-LIKE DISORDER; ATLD HP:0001272 Cerebellar atrophy IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR ATROPHY OMIM:604391 HPO:skoehler 02.12.2012 +OMIM:604391 #604391 ATAXIA-TELANGIECTASIA-LIKE DISORDER; ATLD HP:0002072 Chorea IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CHOREA OMIM:604391 HPO:skoehler 02.12.2012 +OMIM:604391 #604391 ATAXIA-TELANGIECTASIA-LIKE DISORDER; ATLD HP:0001260 Dysarthria IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DYSARTHRIA OMIM:604391 HPO:skoehler 02.12.2012 +OMIM:604391 #604391 ATAXIA-TELANGIECTASIA-LIKE DISORDER; ATLD HP:0002075 Dysdiadochokinesis IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DYSDIADOCHOKINESIS OMIM:604391 HPO:skoehler 02.12.2012 +OMIM:604391 #604391 ATAXIA-TELANGIECTASIA-LIKE DISORDER; ATLD HP:0001332 Dystonia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DYSTONIA OMIM:604391 HPO:skoehler 02.12.2012 +OMIM:604391 #604391 ATAXIA-TELANGIECTASIA-LIKE DISORDER; ATLD HP:0002359 Frequent falls IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > FREQUENT FALLS OMIM:604391 HPO:skoehler 02.12.2012 +OMIM:604391 #604391 ATAXIA-TELANGIECTASIA-LIKE DISORDER; ATLD HP:0002066 Gait ataxia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > GAIT ATAXIA OMIM:604391 HPO:skoehler 02.12.2012 +OMIM:604391 #604391 ATAXIA-TELANGIECTASIA-LIKE DISORDER; ATLD HP:0001265 Hyporeflexia IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > HYPOREFLEXIA OMIM:604391 HPO:skoehler 02.12.2012 Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-604391.tab ___________________________________________________________________ Added: svn:executable + * Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609981.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609981.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609981.tab 2012-12-03 10:24:24 UTC (rev 4687) @@ -0,0 +1,12 @@ +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:609981 #609981 NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIRDEFECT; NKGCD;;NATURAL KILLER CELL DEFICIENCY, FAMILIAL ISOLATED; NKCD HP:0002240 Hepatomegaly IEA IEA OMIM-CS:ABDOMEN_LIVER > HEPATOMEGALY OMIM:609981 HPO:skoehler 02.12.2012 +OMIM:609981 #609981 NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIRDEFECT; NKGCD;;NATURAL KILLER CELL DEFICIENCY, FAMILIAL ISOLATED; NKCD HP:0001744 Splenomegaly IEA IEA OMIM-CS:ABDOMEN_SPLEEN > SPLENOMEGALY OMIM:609981 HPO:skoehler 02.12.2012 +OMIM:609981 #609981 NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIRDEFECT; NKGCD;;NATURAL KILLER CELL DEFICIENCY, FAMILIAL ISOLATED; NKCD HP:0000846 Adrenal insufficiency IEA IEA OMIM-CS:ENDOCRINE FEATURES > ADRENAL INSUFFICIENCY OMIM:609981 HPO:skoehler 02.12.2012 +OMIM:609981 #609981 NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIRDEFECT; NKGCD;;NATURAL KILLER CELL DEFICIENCY, FAMILIAL ISOLATED; NKCD HP:0001511 Intrauterine growth retardation IEA IEA OMIM-CS:GROWTH_OTHER > INTRAUTERINE GROWTH RETARDATION OMIM:609981 HPO:skoehler 02.12.2012 +OMIM:609981 #609981 NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIRDEFECT; NKGCD;;NATURAL KILLER CELL DEFICIENCY, FAMILIAL ISOLATED; NKCD HP:0008897 Postnatal growth retardation IEA IEA OMIM-CS:GROWTH_OTHER > POSTNATAL GROWTH RETARDATION OMIM:609981 HPO:skoehler 02.12.2012 +OMIM:609981 #609981 NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIRDEFECT; NKGCD;;NATURAL KILLER CELL DEFICIENCY, FAMILIAL ISOLATED; NKCD HP:0000252 Microcephaly IEA IEA OMIM-CS:HEAD AND NECK_HEAD > MICROCEPHALY OMIM:609981 HPO:skoehler 02.12.2012 +OMIM:609981 #609981 NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIRDEFECT; NKGCD;;NATURAL KILLER CELL DEFICIENCY, FAMILIAL ISOLATED; NKCD HP:0002716 Lymphadenopathy IEA IEA OMIM-CS:IMMUNOLOGY > LYMPHADENOPATHY OMIM:609981 HPO:skoehler 02.12.2012 +OMIM:609981 #609981 NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIRDEFECT; NKGCD;;NATURAL KILLER CELL DEFICIENCY, FAMILIAL ISOLATED; NKCD HP:0004429 Recurrent viral infections IEA IEA OMIM-CS:IMMUNOLOGY > RECURRENT VIRAL INFECTIONS OMIM:609981 HPO:skoehler 02.12.2012 +OMIM:609981 #609981 NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIRDEFECT; NKGCD;;NATURAL KILLER CELL DEFICIENCY, FAMILIAL ISOLATED; NKCD HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:609981 HPO:skoehler 02.12.2012 +OMIM:609981 #609981 NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIRDEFECT; NKGCD;;NATURAL KILLER CELL DEFICIENCY, FAMILIAL ISOLATED; NKCD HP:0002205 Recurrent respiratory infections IEA IEA OMIM-CS:RESPIRATORY > RECURRENT RESPIRATORY INFECTIONS OMIM:609981 HPO:skoehler 02.12.2012 +OMIM:609981 #609981 NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIRDEFECT; NKGCD;;NATURAL KILLER CELL DEFICIENCY, FAMILIAL ISOLATED; NKCD HP:0002093 Respiratory insufficiency IEA IEA rare OMIM-CS:RESPIRATORY > RESPIRATORY FAILURE (IN SOME PATIENTS) OMIM:609981 HPO:skoehler 02.12.2012 Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609981.tab ___________________________________________________________________ Added: svn:executable + * Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613862.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613862.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613862.tab 2012-12-03 10:24:24 UTC (rev 4687) @@ -0,0 +1,3 @@ +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:613862 #613862 RETINITIS PIGMENTOSA 38; RP38;;ROD-CONE DYSTROPHY, CHILDHOOD-ONSET HP:0000662 Night blindness IEA IEA OMIM-CS:HEAD AND NECK_EYES > NYCTALOPIA OMIM:613862 HPO:skoehler 02.12.2012 +OMIM:613862 #613862 RETINITIS PIGMENTOSA 38; RP38;;ROD-CONE DYSTROPHY, CHILDHOOD-ONSET HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:613862 HPO:skoehler 02.12.2012 Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613862.tab ___________________________________________________________________ Added: svn:executable + * Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614750.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614750.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614750.tab 2012-12-03 10:24:24 UTC (rev 4687) @@ -0,0 +1,6 @@ +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:614750 #614750 MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2; CMSTA2 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT OMIM:614750 HPO:skoehler 02.12.2012 +OMIM:614750 #614750 MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2; CMSTA2 HP:0003677 Slow progression IEA IEA OMIM-CS:MISCELLANEOUS > SLOWLY PROGRESSIVE OMIM:614750 HPO:skoehler 02.12.2012 +OMIM:614750 #614750 MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2; CMSTA2 HP:0003701 Proximal muscle weakness IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > PROXIMAL MUSCLE WEAKNESS OMIM:614750 HPO:skoehler 02.12.2012 +OMIM:614750 #614750 MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2; CMSTA2 HP:0001270 Motor delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED MOTOR DEVELOPMENT OMIM:614750 HPO:skoehler 02.12.2012 +OMIM:614750 #614750 MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2; CMSTA2 HP:0002650 Scoliosis IEA IEA OMIM-CS:SKELETAL_SPINE > SCOLIOSIS OMIM:614750 HPO:skoehler 02.12.2012 Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614750.tab ___________________________________________________________________ Added: svn:executable + * Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614809.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614809.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614809.tab 2012-12-03 10:24:24 UTC (rev 4687) @@ -0,0 +1,7 @@ +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:614809 #614809 CFHR5 DEFICIENCY HP:0003774 End stage renal disease IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > END-STAGE RENAL DISEASE OMIM:614809 HPO:skoehler 02.12.2012 +OMIM:614809 #614809 CFHR5 DEFICIENCY HP:0000099 Glomerulonephritis IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > GLOMERULONEPHRITIS OMIM:614809 HPO:skoehler 02.12.2012 +OMIM:614809 #614809 CFHR5 DEFICIENCY HP:0000790 Hematuria IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > HEMATURIA OMIM:614809 HPO:skoehler 02.12.2012 +OMIM:614809 #614809 CFHR5 DEFICIENCY HP:0000083 Renal insufficiency IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > RENAL FAILURE OMIM:614809 HPO:skoehler 02.12.2012 +OMIM:614809 #614809 CFHR5 DEFICIENCY HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT OMIM:614809 HPO:skoehler 02.12.2012 +OMIM:614809 #614809 CFHR5 DEFICIENCY HP:0003676 Progressive disorder IEA IEA OMIM-CS:MISCELLANEOUS > PROGRESSIVE DISORDER OMIM:614809 HPO:skoehler 02.12.2012 Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614809.tab ___________________________________________________________________ Added: svn:executable + * Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614844.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614844.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614844.tab 2012-12-03 10:24:24 UTC (rev 4687) @@ -0,0 +1,9 @@ +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:614844 #614844 NEPHRONOPHTHISIS 14; NPHP14JOUBERT SYNDROME 19, INCLUDED; JBTS19, INCLUDED HP:0001696 Situs inversus totalis IEA IEA rare OMIM-CS:ABDOMEN > SITUS INVERSUS (IN 1 FAMILY) OMIM:614844 HPO:skoehler 02.12.2012 +OMIM:614844 #614844 NEPHRONOPHTHISIS 14; NPHP14JOUBERT SYNDROME 19, INCLUDED; JBTS19, INCLUDED HP:0000090 Nephronophthisis IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > NEPHRONOPHTHISIS OMIM:614844 HPO:skoehler 02.12.2012 +OMIM:614844 #614844 NEPHRONOPHTHISIS 14; NPHP14JOUBERT SYNDROME 19, INCLUDED; JBTS19, INCLUDED HP:0000113 Polycystic kidney dysplasia IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > POLYCYSTIC KIDNEY DISEASE OMIM:614844 HPO:skoehler 02.12.2012 +OMIM:614844 #614844 NEPHRONOPHTHISIS 14; NPHP14JOUBERT SYNDROME 19, INCLUDED; JBTS19, INCLUDED HP:0000546 Retinal degeneration IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > RETINAL DEGENERATION (IN SOME PATIENTS) OMIM:614844 HPO:skoehler 02.12.2012 +OMIM:614844 #614844 NEPHRONOPHTHISIS 14; NPHP14JOUBERT SYNDROME 19, INCLUDED; JBTS19, INCLUDED HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT OMIM:614844 HPO:skoehler 02.12.2012 +OMIM:614844 #614844 NEPHRONOPHTHISIS 14; NPHP14JOUBERT SYNDROME 19, INCLUDED; JBTS19, INCLUDED HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:614844 HPO:skoehler 02.12.2012 +OMIM:614844 #614844 NEPHRONOPHTHISIS 14; NPHP14JOUBERT SYNDROME 19, INCLUDED; JBTS19, INCLUDED HP:0003812 Phenotypic variability IEA IEA OMIM-CS:MISCELLANEOUS > VARIABLE PHENOTYPE OMIM:614844 HPO:skoehler 02.12.2012 +OMIM:614844 #614844 NEPHRONOPHTHISIS 14; NPHP14JOUBERT SYNDROME 19, INCLUDED; JBTS19, INCLUDED HP:0001320 Cerebellar vermis hypoplasia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR VERMIS HYPOPLASIA OMIM:614844 HPO:skoehler 02.12.2012 Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614844.tab ___________________________________________________________________ Added: svn:executable + * Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614845.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614845.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614845.tab 2012-12-03 10:24:24 UTC (rev 4687) @@ -0,0 +1,13 @@ +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:614845 #614845 NEPHRONOPHTHISIS 15; NPHP15 HP:0001399 Hepatic failure IEA IEA rare OMIM-CS:ABDOMEN_LIVER > LIVER FAILURE (IN SOME PATIENTS) OMIM:614845 HPO:skoehler 02.12.2012 +OMIM:614845 #614845 NEPHRONOPHTHISIS 15; NPHP15 HP:0000090 Nephronophthisis IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > NEPHRONOPHTHISIS OMIM:614845 HPO:skoehler 02.12.2012 +OMIM:614845 #614845 NEPHRONOPHTHISIS 15; NPHP15 HP:0001513 Obesity IEA IEA rare OMIM-CS:GROWTH_WEIGHT > OBESITY (IN SOME PATIENTS) OMIM:614845 HPO:skoehler 02.12.2012 +OMIM:614845 #614845 NEPHRONOPHTHISIS 15; NPHP15 HP:0000618 Blindness IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > BLINDNESS (IN SOME PATIENTS) OMIM:614845 HPO:skoehler 02.12.2012 +OMIM:614845 #614845 NEPHRONOPHTHISIS 15; NPHP15 HP:0000639 Nystagmus IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > NYSTAGMUS (IN 1 PATIENT) OMIM:614845 HPO:skoehler 02.12.2012 +OMIM:614845 #614845 NEPHRONOPHTHISIS 15; NPHP15 HP:0000546 Retinal degeneration IEA IEA OMIM-CS:HEAD AND NECK_EYES > RETINAL DEGENERATION OMIM:614845 HPO:skoehler 02.12.2012 +OMIM:614845 #614845 NEPHRONOPHTHISIS 15; NPHP15 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:614845 HPO:skoehler 02.12.2012 +OMIM:614845 #614845 NEPHRONOPHTHISIS 15; NPHP15 HP:0003812 Phenotypic variability IEA IEA OMIM-CS:MISCELLANEOUS > VARIABLE PHENOTYPE OMIM:614845 HPO:skoehler 02.12.2012 +OMIM:614845 #614845 NEPHRONOPHTHISIS 15; NPHP15 HP:0001320 Cerebellar vermis hypoplasia IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR VERMIS HYPOPLASIA (IN 1 PATIENT) OMIM:614845 HPO:skoehler 02.12.2012 +OMIM:614845 #614845 NEPHRONOPHTHISIS 15; NPHP15 HP:0001263 Global developmental delay IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DEVELOPMENTAL DELAY (IN 1 PATIENT) OMIM:614845 HPO:skoehler 02.12.2012 +OMIM:614845 #614845 NEPHRONOPHTHISIS 15; NPHP15 HP:0001250 Seizures IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES (IN 1 PATIENT) OMIM:614845 HPO:skoehler 02.12.2012 +OMIM:614845 #614845 NEPHRONOPHTHISIS 15; NPHP15 HP:0010442 Polydactyly IEA IEA rare OMIM-CS:SKELETAL_HANDS > POLYDACTYLY (IN 1 PATIENT) OMIM:614845 HPO:skoehler 02.12.2012 Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614845.tab ___________________________________________________________________ Added: svn:executable + * Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614851.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614851.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614851.tab 2012-12-03 10:24:24 UTC (rev 4687) @@ -0,0 +1,11 @@ +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:614851 #614851 SECKEL SYNDROME 7; SCKL7 HP:0000786 Primary amenorrhea IEA IEA OMIM-CS:ENDOCRINE FEATURES > PRIMARY AMENORRHEA OMIM:614851 HPO:skoehler 02.12.2012 +OMIM:614851 #614851 SECKEL SYNDROME 7; SCKL7 HP:0000786 Primary amenorrhea IEA IEA OMIM-CS:GENITOURINARY_INTERNAL GENITALIA, FEMALE > PRIMARY AMENORRHEA OMIM:614851 HPO:skoehler 02.12.2012 +OMIM:614851 #614851 SECKEL SYNDROME 7; SCKL7 HP:0001511 Intrauterine growth retardation IEA IEA OMIM-CS:GROWTH_OTHER > INTRAUTERINE GROWTH RETARDATION OMIM:614851 HPO:skoehler 02.12.2012 +OMIM:614851 #614851 SECKEL SYNDROME 7; SCKL7 HP:0008551 Microtia IEA IEA OMIM-CS:HEAD AND NECK_EARS > SMALL EARS OMIM:614851 HPO:skoehler 02.12.2012 +OMIM:614851 #614851 SECKEL SYNDROME 7; SCKL7 HP:0000601 Hypotelorism IEA IEA OMIM-CS:HEAD AND NECK_EYES > HYPOTELORISM OMIM:614851 HPO:skoehler 02.12.2012 +OMIM:614851 #614851 SECKEL SYNDROME 7; SCKL7 HP:0000448 Prominent nose IEA IEA OMIM-CS:HEAD AND NECK_NOSE > PROMINENT NOSE OMIM:614851 HPO:skoehler 02.12.2012 +OMIM:614851 #614851 SECKEL SYNDROME 7; SCKL7 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:614851 HPO:skoehler 02.12.2012 +OMIM:614851 #614851 SECKEL SYNDROME 7; SCKL7 HP:0010864 Intellectual disability, severe IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, SEVERE OMIM:614851 HPO:skoehler 02.12.2012 +OMIM:614851 #614851 SECKEL SYNDROME 7; SCKL7 HP:0001250 Seizures IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES OMIM:614851 HPO:skoehler 02.12.2012 +OMIM:614851 #614851 SECKEL SYNDROME 7; SCKL7 HP:0001191 Abnormality of the carpal bones IEA IEA rare OMIM-CS:SKELETAL_HANDS > ABNORMAL CARPAL BONES (IN SOME PATIENTS) OMIM:614851 HPO:skoehler 02.12.2012 Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614851.tab ___________________________________________________________________ Added: svn:executable + * Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614861.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614861.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614861.tab 2012-12-03 10:24:24 UTC (rev 4687) @@ -0,0 +1,2 @@ +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:614861 #614861 DEAFNESS, AUTOSOMAL RECESSIVE 98; DFNB98 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:614861 HPO:skoehler 02.12.2012 Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614861.tab ___________________________________________________________________ Added: svn:executable + * Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614897.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614897.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614897.tab 2012-12-03 10:24:24 UTC (rev 4687) @@ -0,0 +1,6 @@ +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:614897 #614897 HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA; HH16 HP:0000027 Azoospermia IEA IEA OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > AZOOSPERMIA OMIM:614897 HPO:skoehler 02.12.2012 +OMIM:614897 #614897 HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA; HH16 HP:0000028 Cryptorchidism IEA IEA OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > CRYPTORCHIDISM OMIM:614897 HPO:skoehler 02.12.2012 +OMIM:614897 #614897 HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA; HH16 HP:0000054 Micropenis IEA IEA OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > MICROPENIS OMIM:614897 HPO:skoehler 02.12.2012 +OMIM:614897 #614897 HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA; HH16 HP:0008734 Decreased testicular size IEA IEA OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > SMALL TESTES OMIM:614897 HPO:skoehler 02.12.2012 +OMIM:614897 #614897 HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA; HH16 HP:0000786 Primary amenorrhea IEA IEA OMIM-CS:GENITOURINARY_INTERNAL GENITALIA, FEMALE > PRIMARY AMENORRHEA OMIM:614897 HPO:skoehler 02.12.2012 Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614897.tab ___________________________________________________________________ Added: svn:executable + * Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614926.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614926.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614926.tab 2012-12-03 10:24:24 UTC (rev 4687) @@ -0,0 +1,3 @@ +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:614926 #614926 PERRAULT SYNDROME 2; PRLTS2 HP:0000407 Sensorineural hearing impairment IEA IEA OMIM-CS:HEAD AND NECK_EARS > HEARING LOSS, SENSORINEURAL OMIM:614926 HPO:skoehler 02.12.2012 +OMIM:614926 #614926 PERRAULT SYNDROME 2; PRLTS2 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:614926 HPO:skoehler 02.12.2012 Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614926.tab ___________________________________________________________________ Added: svn:executable + * Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614932.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614932.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614932.tab 2012-12-03 10:24:24 UTC (rev 4687) @@ -0,0 +1,9 @@ +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:614932 #614932 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13 HP:0001510 Growth delay IEA IEA OMIM-CS:GROWTH_OTHER > POOR GROWTH OMIM:614932 HPO:skoehler 02.12.2012 +OMIM:614932 #614932 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:614932 HPO:skoehler 02.12.2012 +OMIM:614932 #614932 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13 HP:0006829 Severe muscular hypotonia IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > HYPOTONIA, SEVERE OMIM:614932 HPO:skoehler 02.12.2012 +OMIM:614932 #614932 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13 HP:0003202 Amyotrophy IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE ATROPHY OMIM:614932 HPO:skoehler 02.12.2012 +OMIM:614932 #614932 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13 HP:0001266 Choreoathetosis IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CHOREOATHETOSIS OMIM:614932 HPO:skoehler 02.12.2012 +OMIM:614932 #614932 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13 HP:0100660 Dyskinesia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DYSKINESIA OMIM:614932 HPO:skoehler 02.12.2012 +OMIM:614932 #614932 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13 HP:0001332 Dystonia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DYSTONIA OMIM:614932 HPO:skoehler 02.12.2012 +OMIM:614932 #614932 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13 HP:0001265 Hyporeflexia IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > HYPOREFLEXIA OMIM:614932 HPO:skoehler 02.12.2012 Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614932.tab ___________________________________________________________________ Added: svn:executable + * Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614934.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614934.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614934.tab 2012-12-03 10:24:24 UTC (rev 4687) @@ -0,0 +1,2 @@ +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:614934 #614934 DEAFNESS, AUTOSOMAL RECESSIVE 70; DFNB70 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:614934 HPO:skoehler 02.12.2012 Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614934.tab ___________________________________________________________________ Added: svn:executable + * Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614935.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614935.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614935.tab 2012-12-03 10:24:24 UTC (rev 4687) @@ -0,0 +1,8 @@ +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:614935 #614935 CILIARY DYSKINESIA, PRIMARY, 19; CILD19;;CILIARY DYSKINESIA, PRIMARY, 19, WITH OR WITHOUT SITUS INVERSUS HP:0000403 Recurrent otitis media IEA IEA OMIM-CS:HEAD AND NECK_EARS > OTITIS MEDIA, RECURRENT OMIM:614935 HPO:skoehler 02.12.2012 +OMIM:614935 #614935 CILIARY DYSKINESIA, PRIMARY, 19; CILD19;;CILIARY DYSKINESIA, PRIMARY, 19, WITH OR WITHOUT SITUS INVERSUS HP:0011108 Recurrent sinusitis IEA IEA OMIM-CS:HEAD AND NECK_HEAD > SINUSITIS, RECURRENT OMIM:614935 HPO:skoehler 02.12.2012 +OMIM:614935 #614935 CILIARY DYSKINESIA, PRIMARY, 19; CILD19;;CILIARY DYSKINESIA, PRIMARY, 19, WITH OR WITHOUT SITUS INVERSUS HP:0000462 Nasal polyps IEA IEA OMIM-CS:HEAD AND NECK_NOSE > NASAL POLYPS OMIM:614935 HPO:skoehler 02.12.2012 +OMIM:614935 #614935 CILIARY DYSKINESIA, PRIMARY, 19; CILD19;;CILIARY DYSKINESIA, PRIMARY, 19, WITH OR WITHOUT SITUS INVERSUS HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:614935 HPO:skoehler 02.12.2012 +OMIM:614935 #614935 CILIARY DYSKINESIA, PRIMARY, 19; CILD19;;CILIARY DYSKINESIA, PRIMARY, 19, WITH OR WITHOUT SITUS INVERSUS HP:0002205 Recurrent respiratory infections IEA IEA OMIM-CS:RESPIRATORY > RESPIRATORY INFECTIONS, RECURRENT OMIM:614935 HPO:skoehler 02.12.2012 +OMIM:614935 #614935 CILIARY DYSKINESIA, PRIMARY, 19; CILD19;;CILIARY DYSKINESIA, PRIMARY, 19, WITH OR WITHOUT SITUS INVERSUS HP:0004469 Chronic bronchitis IEA IEA OMIM-CS:RESPIRATORY_AIRWAYS > CHRONIC BRONCHITIS OMIM:614935 HPO:skoehler 02.12.2012 +OMIM:614935 #614935 CILIARY DYSKINESIA, PRIMARY, 19; CILD19;;CILIARY DYSKINESIA, PRIMARY, 19, WITH OR WITHOUT SITUS INVERSUS HP:0002110 Bronchiectasis IEA IEA OMIM-CS:RESPIRATORY_LUNGS > BRONCHIECTASIS OMIM:614935 HPO:skoehler 02.12.2012 Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614935.tab ___________________________________________________________________ Added: svn:executable + * Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614937.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614937.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614937.tab 2012-12-03 10:24:24 UTC (rev 4687) @@ -0,0 +1,3 @@ +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:614937 #614937 MYOCLONUS, FAMILIAL CORTICAL; FCM HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT OMIM:614937 HPO:skoehler 02.12.2012 +OMIM:614937 #614937 MYOCLONUS, FAMILIAL CORTICAL; FCM HP:0003677 Slow progression IEA IEA OMIM-CS:MISCELLANEOUS > SLOWLY PROGRESSIVE OMIM:614937 HPO:skoehler 02.12.2012 Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614937.tab ___________________________________________________________________ Added: svn:executable + * Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614944.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614944.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614944.tab 2012-12-03 10:24:24 UTC (rev 4687) @@ -0,0 +1,3 @@ +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:614944 #614944 DEAFNESS, AUTOSOMAL RECESSIVE 84B; DFNB84B HP:0001756 Vestibular hypofunction IEA IEA rare OMIM-CS:HEAD AND NECK_EARS > VESTIBULAR HYPOFUNCTION (RARE) OMIM:614944 HPO:skoehler 02.12.2012 +OMIM:614944 #614944 DEAFNESS, AUTOSOMAL RECESSIVE 84B; DFNB84B HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:614944 HPO:skoehler 02.12.2012 Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614944.tab ___________________________________________________________________ Added: svn:executable + * Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614945.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614945.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614945.tab 2012-12-03 10:24:24 UTC (rev 4687) @@ -0,0 +1,2 @@ +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:614945 #614945 DEAFNESS, AUTOSOMAL RECESSIVE 18B; DFNB18B HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:614945 HPO:skoehler 02.12.2012 Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614945.tab ___________________________________________________________________ Added: svn:executable + * This was sent by the 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