From: <koe...@us...> - 2012-12-06 18:27:11
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Revision: 4690 http://obo.svn.sourceforge.net/obo/?rev=4690&view=rev Author: koehlers Date: 2012-12-06 18:16:40 +0000 (Thu, 06 Dec 2012) Log Message: ----------- annotation updates transferred from OMIM.txt based on hudson job Modified Paths: -------------- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603387.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614851.tab Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603387.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603387.tab 2012-12-03 16:07:19 UTC (rev 4689) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603387.tab 2012-12-06 18:16:40 UTC (rev 4690) @@ -1,21 +1,27 @@ -Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created -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 +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID 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 Dec 2, 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 Dec 2, 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 Dec 2, 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 Dec 2, 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 Dec 2, 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 Dec 2, 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 Dec 2, 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 Dec 2, 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 Dec 2, 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 Dec 2, 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 Dec 2, 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 Dec 2, 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 Dec 2, 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 Dec 2, 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 Dec 2, 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 Dec 2, 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 Dec 2, 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 Dec 2, 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 Dec 2, 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 Dec 2, 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:0001653 Mitral regurgitation IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > MITRAL REGURGITATION, MILD OMIM:603387 HPO:skoehler Dec 6, 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:0000508 Ptosis IEA IEA OMIM-CS:HEAD AND NECK_EYES > EYELID PTOSIS OMIM:603387 HPO:skoehler Dec 6, 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:0001302 Pachygyria IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > FOCAL PACHYGYRIA OMIM:603387 HPO:skoehler Dec 6, 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:0002319 Thin corpus callosum IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MILDLY THIN CORPUS CALLOSUM OMIM:603387 HPO:skoehler Dec 6, 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:0006380 Knee flexion contracture IEA IEA OMIM-CS:SKELETAL_LIMBS > FLEXION CONTRACTURES AT BOTH KNEES OMIM:603387 HPO:skoehler Dec 6, 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:0002943 Thoracic scoliosis IEA IEA OMIM-CS:SKELETAL_SPINE > S-SCOLIOSIS OF THORACIC SPINE OMIM:603387 HPO:skoehler Dec 6, 2012 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614851.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614851.tab 2012-12-03 16:07:19 UTC (rev 4689) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614851.tab 2012-12-06 18:16:40 UTC (rev 4690) @@ -1,11 +1,19 @@ -Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created -OMIM: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 +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID 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 Dec 2, 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 Dec 2, 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 Dec 2, 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 Dec 2, 2012 +OMIM:614851 #614851 SECKEL SYNDROME 7; SCKL7 HP:0000601 Hypotelorism IEA IEA OMIM-CS:HEAD AND NECK_EYES > HYPOTELORISM OMIM:614851 HPO:skoehler Dec 2, 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 Dec 2, 2012 +OMIM:614851 #614851 SECKEL SYNDROME 7; SCKL7 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:614851 HPO:skoehler Dec 2, 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 Dec 2, 2012 +OMIM:614851 #614851 SECKEL SYNDROME 7; SCKL7 HP:0001250 Seizures IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES OMIM:614851 HPO:skoehler Dec 2, 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 Dec 2, 2012 +OMIM:614851 #614851 SECKEL SYNDROME 7; SCKL7 HP:0011787 Central hypothyroidism IEA IEA OMIM-CS:ENDOCRINE FEATURES > CENTRAL HYPOTHYROIDISM, BORDERLINE OMIM:614851 HPO:skoehler Dec 6, 2012 +OMIM:614851 #614851 SECKEL SYNDROME 7; SCKL7 HP:0003510 Severe short stature IEA IEA OMIM-CS:GROWTH_HEIGHT > SHORT STATURE, SEVERE OMIM:614851 HPO:skoehler Dec 6, 2012 +OMIM:614851 #614851 SECKEL SYNDROME 7; SCKL7 HP:0000252 Microcephaly IEA IEA OMIM-CS:HEAD AND NECK_HEAD > MICROCEPHALY, SEVERE OMIM:614851 HPO:skoehler Dec 6, 2012 +OMIM:614851 #614851 SECKEL SYNDROME 7; SCKL7 HP:0011344 Severe global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DEVELOPMENTAL DELAY, SIGNIFICANT OMIM:614851 HPO:skoehler Dec 6, 2012 +OMIM:614851 #614851 SECKEL SYNDROME 7; SCKL7 HP:0002750 Delayed skeletal maturation HP:0011463 Childhood onset IEA IEA OMIM-CS:SKELETAL > DELAYED BONE AGE (2 TO 3 YEARS) DURING CHILDHOOD OMIM:614851 HPO:skoehler Dec 6, 2012 +OMIM:614851 #614851 SECKEL SYNDROME 7; SCKL7 HP:0003067 Madelung deformity IEA IEA OMIM-CS:SKELETAL_LIMBS > FORESHORTENED ULNA (MADELUNG DEFORMITY) OMIM:614851 HPO:skoehler Dec 6, 2012 +OMIM:614851 #614851 SECKEL SYNDROME 7; SCKL7 HP:0001385 Hip dysplasia IEA IEA OMIM-CS:SKELETAL_PELVIS > HIP DYSPLASIA, BILATERAL OMIM:614851 HPO:skoehler Dec 6, 2012 +OMIM:614851 #614851 SECKEL SYNDROME 7; SCKL7 HP:0004626 Lumbar scoliosis IEA IEA OMIM-CS:SKELETAL_SPINE > LUMBAR SCOLIOSIS, MILD OMIM:614851 HPO:skoehler Dec 6, 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