From: <koe...@us...> - 2014-07-11 11:00:15
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Revision: 5182 http://sourceforge.net/p/obo/svn/5182 Author: koehlers Date: 2014-07-11 11:00:12 +0000 (Fri, 11 Jul 2014) Log Message: ----------- added new entries found in omim.txt (hudson job) Added Paths: ----------- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300484.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300615.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615075.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615249.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615816.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615817.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615828.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615829.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615833.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615841.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615842.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615859.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615862.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615863.tab Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300484.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300484.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300484.tab 2014-07-11 11:00:12 UTC (rev 5182) @@ -0,0 +1,17 @@ +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:300484 %300484 OROFACIODIGITAL SYNDROME VIII; OFD8;;OFDS VIII;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIII;;ORAL-FACIAL-DIGITAL SYNDROME WITH HYPOPLASTIC EPIGLOTTIS;;EDWARDS SYNDROME HP:0004322 Short stature IEA IEA OMIM-CS:GROWTH_HEIGHT > SHORT STATURE OMIM:300484 HPO:skoehler 11.07.2014 +OMIM:300484 %300484 OROFACIODIGITAL SYNDROME VIII; OFD8;;OFDS VIII;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIII;;ORAL-FACIAL-DIGITAL SYNDROME WITH HYPOPLASTIC EPIGLOTTIS;;EDWARDS SYNDROME HP:0000316 Hypertelorism IEA IEA OMIM-CS:HEAD AND NECK_EYES > HYPERTELORISM OMIM:300484 HPO:skoehler 11.07.2014 +OMIM:300484 %300484 OROFACIODIGITAL SYNDROME VIII; OFD8;;OFDS VIII;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIII;;ORAL-FACIAL-DIGITAL SYNDROME WITH HYPOPLASTIC EPIGLOTTIS;;EDWARDS SYNDROME HP:0000486 Strabismus IEA IEA OMIM-CS:HEAD AND NECK_EYES > STRABISMUS OMIM:300484 HPO:skoehler 11.07.2014 +OMIM:300484 %300484 OROFACIODIGITAL SYNDROME VIII; OFD8;;OFDS VIII;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIII;;ORAL-FACIAL-DIGITAL SYNDROME WITH HYPOPLASTIC EPIGLOTTIS;;EDWARDS SYNDROME HP:0000506 Telecanthus IEA IEA OMIM-CS:HEAD AND NECK_EYES > TELECANTHUS OMIM:300484 HPO:skoehler 11.07.2014 +OMIM:300484 %300484 OROFACIODIGITAL SYNDROME VIII; OFD8;;OFDS VIII;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIII;;ORAL-FACIAL-DIGITAL SYNDROME WITH HYPOPLASTIC EPIGLOTTIS;;EDWARDS SYNDROME HP:0000175 Cleft palate IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > CLEFT PALATE OMIM:300484 HPO:skoehler 11.07.2014 +OMIM:300484 %300484 OROFACIODIGITAL SYNDROME VIII; OFD8;;OFDS VIII;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIII;;ORAL-FACIAL-DIGITAL SYNDROME WITH HYPOPLASTIC EPIGLOTTIS;;EDWARDS SYNDROME HP:0000218 High palate IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > HIGH-ARCHED PALATE OMIM:300484 HPO:skoehler 11.07.2014 +OMIM:300484 %300484 OROFACIODIGITAL SYNDROME VIII; OFD8;;OFDS VIII;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIII;;ORAL-FACIAL-DIGITAL SYNDROME WITH HYPOPLASTIC EPIGLOTTIS;;EDWARDS SYNDROME HP:0000161 Median cleft lip IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > MEDIAN CLEFT LIP OMIM:300484 HPO:skoehler 11.07.2014 +OMIM:300484 %300484 OROFACIODIGITAL SYNDROME VIII; OFD8;;OFDS VIII;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIII;;ORAL-FACIAL-DIGITAL SYNDROME WITH HYPOPLASTIC EPIGLOTTIS;;EDWARDS SYNDROME HP:0000456 Bifid nasal tip IEA IEA OMIM-CS:HEAD AND NECK_NOSE > BIFID NASAL TIP OMIM:300484 HPO:skoehler 11.07.2014 +OMIM:300484 %300484 OROFACIODIGITAL SYNDROME VIII; OFD8;;OFDS VIII;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIII;;ORAL-FACIAL-DIGITAL SYNDROME WITH HYPOPLASTIC EPIGLOTTIS;;EDWARDS SYNDROME HP:0000455 Broad nasal tip IEA IEA OMIM-CS:HEAD AND NECK_NOSE > BROAD NASAL TIP OMIM:300484 HPO:skoehler 11.07.2014 +OMIM:300484 %300484 OROFACIODIGITAL SYNDROME VIII; OFD8;;OFDS VIII;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIII;;ORAL-FACIAL-DIGITAL SYNDROME WITH HYPOPLASTIC EPIGLOTTIS;;EDWARDS SYNDROME HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DEVELOPMENTAL DELAY OMIM:300484 HPO:skoehler 11.07.2014 +OMIM:300484 %300484 OROFACIODIGITAL SYNDROME VIII; OFD8;;OFDS VIII;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIII;;ORAL-FACIAL-DIGITAL SYNDROME WITH HYPOPLASTIC EPIGLOTTIS;;EDWARDS SYNDROME HP:0005349 Hypoplasia of the epiglottis IEA IEA OMIM-CS:RESPIRATORY_LARYNX > HYPOPLASTIC EPIGLOTTIS OMIM:300484 HPO:skoehler 11.07.2014 +OMIM:300484 %300484 OROFACIODIGITAL SYNDROME VIII; OFD8;;OFDS VIII;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIII;;ORAL-FACIAL-DIGITAL SYNDROME WITH HYPOPLASTIC EPIGLOTTIS;;EDWARDS SYNDROME HP:0002100 Recurrent aspiration pneumonia IEA IEA OMIM-CS:RESPIRATORY_LUNG > RECURRENT ASPIRATION PNEUMONIA OMIM:300484 HPO:skoehler 11.07.2014 +OMIM:300484 %300484 OROFACIODIGITAL SYNDROME VIII; OFD8;;OFDS VIII;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIII;;ORAL-FACIAL-DIGITAL SYNDROME WITH HYPOPLASTIC EPIGLOTTIS;;EDWARDS SYNDROME HP:0001159 Syndactyly IEA IEA OMIM-CS:SKELETAL_FEET > SYNDACTYLY OMIM:300484 HPO:skoehler 11.07.2014 +OMIM:300484 %300484 OROFACIODIGITAL SYNDROME VIII; OFD8;;OFDS VIII;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIII;;ORAL-FACIAL-DIGITAL SYNDROME WITH HYPOPLASTIC EPIGLOTTIS;;EDWARDS SYNDROME HP:0010442 Polydactyly IEA IEA OMIM-CS:SKELETAL_HANDS > POLYDACTYLY OMIM:300484 HPO:skoehler 11.07.2014 +OMIM:300484 %300484 OROFACIODIGITAL SYNDROME VIII; OFD8;;OFDS VIII;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIII;;ORAL-FACIAL-DIGITAL SYNDROME WITH HYPOPLASTIC EPIGLOTTIS;;EDWARDS SYNDROME HP:0001159 Syndactyly IEA IEA OMIM-CS:SKELETAL_HANDS > SYNDACTYLY OMIM:300484 HPO:skoehler 11.07.2014 +OMIM:300484 %300484 OROFACIODIGITAL SYNDROME VIII; OFD8;;OFDS VIII;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIII;;ORAL-FACIAL-DIGITAL SYNDROME WITH HYPOPLASTIC EPIGLOTTIS;;EDWARDS SYNDROME HP:0005736 Short tibia IEA IEA OMIM-CS:SKELETAL_LIMBS > SHORT TIBIAE OMIM:300484 HPO:skoehler 11.07.2014 Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300484.tab ___________________________________________________________________ Added: svn:executable ## -0,0 +1 ## +* \ No newline at end of property Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300615.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300615.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300615.tab 2014-07-11 11:00:12 UTC (rev 5182) @@ -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:300615 #300615 BRUNNER SYNDROME HP:0000717 Autism IEA IEA OMIM-CS:NEUROLOGIC_BEHAVIORAL/PSYCHIATRIC MANIFESTATIONS > AUTISM OMIM:300615 HPO:skoehler 11.07.2014 +OMIM:300615 #300615 BRUNNER SYNDROME HP:0001270 Motor delay IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED MOTOR DEVELOPMENT (IN SOME PATIENTS) OMIM:300615 HPO:skoehler 11.07.2014 Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300615.tab ___________________________________________________________________ Added: svn:executable ## -0,0 +1 ## +* \ No newline at end of property Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615075.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615075.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615075.tab 2014-07-11 11:00:12 UTC (rev 5182) @@ -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:615075 #615075 MENTAL RETARDATION, AUTOSOMAL DOMINANT 19; MRD19 HP:0000252 Microcephaly IEA IEA OMIM-CS:HEAD AND NECK_HEAD > MICROCEPHALY OMIM:615075 HPO:skoehler 11.07.2014 +OMIM:615075 #615075 MENTAL RETARDATION, AUTOSOMAL DOMINANT 19; MRD19 HP:0000219 Thin upper lip vermilion IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > THIN UPPER LIP OMIM:615075 HPO:skoehler 11.07.2014 +OMIM:615075 #615075 MENTAL RETARDATION, AUTOSOMAL DOMINANT 19; MRD19 HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT OMIM:615075 HPO:skoehler 11.07.2014 +OMIM:615075 #615075 MENTAL RETARDATION, AUTOSOMAL DOMINANT 19; MRD19 HP:0002079 Hypoplasia of the corpus callosum IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPOPLASTIC CORPUS CALLOSUM OMIM:615075 HPO:skoehler 11.07.2014 +OMIM:615075 #615075 MENTAL RETARDATION, AUTOSOMAL DOMINANT 19; MRD19 HP:0001249 Intellectual disability IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTELLECTUAL DISABILITY OMIM:615075 HPO:skoehler 11.07.2014 +OMIM:615075 #615075 MENTAL RETARDATION, AUTOSOMAL DOMINANT 19; MRD19 HP:0001264 Spastic diplegia IEA IEA MODIFIER:PROGRESSIVE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SPASTIC DIPLEGIA, PROGRESSIVE OMIM:615075 HPO:skoehler 11.07.2014 Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615075.tab ___________________________________________________________________ Added: svn:executable ## -0,0 +1 ## +* \ No newline at end of property Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615249.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615249.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615249.tab 2014-07-11 11:00:12 UTC (rev 5182) @@ -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:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0011968 Feeding difficulties IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > FEEDING PROBLEMS OMIM:615249 HPO:skoehler 11.07.2014 +OMIM:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0000407 Sensorineural hearing impairment IEA IEA rare OMIM-CS:HEAD AND NECK_EARS > SENSORINEURAL HEARING LOSS (1 FAMILY) OMIM:615249 HPO:skoehler 11.07.2014 +OMIM:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0000518 Cataract IEA IEA OMIM-CS:HEAD AND NECK_EYES > CATARACT OMIM:615249 HPO:skoehler 11.07.2014 +OMIM:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0000589 Coloboma IEA IEA OMIM-CS:HEAD AND NECK_EYES > COLOBOMA OMIM:615249 HPO:skoehler 11.07.2014 +OMIM:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0000505 Visual impairment IEA IEA OMIM-CS:HEAD AND NECK_EYES > DECREASED VISUAL ACUITY OMIM:615249 HPO:skoehler 11.07.2014 +OMIM:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0001090 Large eyes IEA IEA OMIM-CS:HEAD AND NECK_EYES > LARGE EYES OMIM:615249 HPO:skoehler 11.07.2014 +OMIM:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0000568 Microphthalmos IEA IEA OMIM-CS:HEAD AND NECK_EYES > MICROPHTHALMIA OMIM:615249 HPO:skoehler 11.07.2014 +OMIM:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0000252 Microcephaly IEA IEA OMIM-CS:HEAD AND NECK_HEAD > MICROCEPHALY, PROGRESSIVE (1 PATIENT) OMIM:615249 HPO:skoehler 11.07.2014 +OMIM:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0002421 Poor head control IEA IEA OMIM-CS:HEAD AND NECK_HEAD > POOR HEAD CONTROL OMIM:615249 HPO:skoehler 11.07.2014 +OMIM:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0003236 Elevated serum creatine phosphokinase IEA IEA OMIM-CS:LABORATORY ABNORMALITIES > INCREASED SERUM CREATINE KINASE OMIM:615249 HPO:skoehler 11.07.2014 +OMIM:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0003560 Muscular dystrophy IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > MUSCULAR DYSTROPHY OMIM:615249 HPO:skoehler 11.07.2014 +OMIM:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0001339 Lissencephaly IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > AGYRIA (1 PATIENT) OMIM:615249 HPO:skoehler 11.07.2014 +OMIM:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0002365 Hypoplasia of the brainstem IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > BRAINSTEM HYPOPLASIA (1 PATIENT) OMIM:615249 HPO:skoehler 11.07.2014 +OMIM:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0001321 Cerebellar hypoplasia IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR HYPOPLASIA (1 PATIENT) OMIM:615249 HPO:skoehler 11.07.2014 +OMIM:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0000238 Hydrocephalus IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYDROCEPHALUS (1 PATIENT) OMIM:615249 HPO:skoehler 11.07.2014 +OMIM:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0002465 Poor speech IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > POOR SPEECH OMIM:615249 HPO:skoehler 11.07.2014 +OMIM:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0001263 Global developmental delay IEA IEA MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PSYCHOMOTOR RETARDATION, SEVERE OMIM:615249 HPO:skoehler 11.07.2014 +OMIM:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0002747 Respiratory insufficiency due to muscle weakness IEA IEA OMIM-CS:RESPIRATORY > RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS OMIM:615249 HPO:skoehler 11.07.2014 +OMIM:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0001371 Flexion contracture IEA IEA OMIM-CS:SKELETAL > JOINT CONTRACTURES OMIM:615249 HPO:skoehler 11.07.2014 +OMIM:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0002650 Scoliosis IEA IEA OMIM-CS:SKELETAL_SPINE > SCOLIOSIS OMIM:615249 HPO:skoehler 11.07.2014 Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615249.tab ___________________________________________________________________ Added: svn:executable ## -0,0 +1 ## +* \ No newline at end of property Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615816.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615816.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615816.tab 2014-07-11 11:00:12 UTC (rev 5182) @@ -0,0 +1,20 @@ +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0000793 Membranoproliferative glomerulonephritis IEA IEA rare OMIM-CS:GENITOURINARY_KIDNEYS > MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS (IN SOME PATIENTS) OMIM:615816 HPO:skoehler 11.07.2014 +OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0000405 Conductive hearing impairment IEA IEA OMIM-CS:HEAD AND NECK_EARS > HEARING LOSS, CONDUCTIVE OMIM:615816 HPO:skoehler 11.07.2014 +OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0000407 Sensorineural hearing impairment IEA IEA OMIM-CS:HEAD AND NECK_EARS > HEARING LOSS, SENSORINEURAL OMIM:615816 HPO:skoehler 11.07.2014 +OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0000218 High palate IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > HIGH-ARCHED PALATE OMIM:615816 HPO:skoehler 11.07.2014 +OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0003193 Allergic rhinitis IEA IEA OMIM-CS:HEAD AND NECK_NOSE > ALLERGIC RHINITIS OMIM:615816 HPO:skoehler 11.07.2014 +OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0001878 Hemolytic anemia IEA IEA rare OMIM-CS:HEMATOLOGY > HEMOLYTIC ANEMIA (IN SOME PATIENTS) OMIM:615816 HPO:skoehler 11.07.2014 +OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0002721 Immunodeficiency IEA IEA OMIM-CS:IMMUNOLOGY > IMMUNE DEFICIENCY OMIM:615816 HPO:skoehler 11.07.2014 +OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0001888 Lymphopenia IEA IEA OMIM-CS:IMMUNOLOGY > LYMPHOPENIA OMIM:615816 HPO:skoehler 11.07.2014 +OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0001875 Neutropenia IEA IEA OMIM-CS:IMMUNOLOGY > NEUTROPENIA OMIM:615816 HPO:skoehler 11.07.2014 +OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0001251 Ataxia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ATAXIA OMIM:615816 HPO:skoehler 11.07.2014 +OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED DEVELOPMENT OMIM:615816 HPO:skoehler 11.07.2014 +OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0001260 Dysarthria IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DYSARTHRIA OMIM:615816 HPO:skoehler 11.07.2014 +OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0001249 Intellectual disability IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTELLECTUAL DISABILITY OMIM:615816 HPO:skoehler 11.07.2014 +OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0003474 Sensory impairment IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > SENSORY IMPAIRMENT OMIM:615816 HPO:skoehler 11.07.2014 +OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0002099 Asthma IEA IEA OMIM-CS:RESPIRATORY > ASTHMA OMIM:615816 HPO:skoehler 11.07.2014 +OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0002205 Recurrent respiratory infections IEA IEA OMIM-CS:RESPIRATORY > RECURRENT RESPIRATORY INFECTIONS OMIM:615816 HPO:skoehler 11.07.2014 +OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0002110 Bronchiectasis IEA IEA OMIM-CS:RESPIRATORY_LUNG > BRONCHIECTASIS OMIM:615816 HPO:skoehler 11.07.2014 +OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0002650 Scoliosis IEA IEA OMIM-CS:SKELETAL_SPINE > SCOLIOSIS OMIM:615816 HPO:skoehler 11.07.2014 +OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0000964 Eczema IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > DERMATITIS OMIM:615816 HPO:skoehler 11.07.2014 Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615816.tab ___________________________________________________________________ Added: svn:executable ## -0,0 +1 ## +* \ No newline at end of property Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615817.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615817.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615817.tab 2014-07-11 11:00:12 UTC (rev 5182) @@ -0,0 +1,4 @@ +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:615817 #615817 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43; MRT43 HP:0004322 Short stature IEA IEA OMIM-CS:GROWTH_HEIGHT > SHORT STATURE OMIM:615817 HPO:skoehler 11.07.2014 +OMIM:615817 #615817 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43; MRT43 HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED DEVELOPMENT OMIM:615817 HPO:skoehler 11.07.2014 +OMIM:615817 #615817 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43; MRT43 HP:0001257 Spasticity IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SPASTICITY (1 PATIENT) OMIM:615817 HPO:skoehler 11.07.2014 Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615817.tab ___________________________________________________________________ Added: svn:executable ## -0,0 +1 ## +* \ No newline at end of property Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615828.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615828.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615828.tab 2014-07-11 11:00:12 UTC (rev 5182) @@ -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:615828 #615828 MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; MRD24 HP:0000817 Poor eye contact IEA IEA OMIM-CS:HEAD AND NECK_EYES > POOR EYE CONTACT OMIM:615828 HPO:skoehler 11.07.2014 +OMIM:615828 #615828 MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; MRD24 HP:0011228 Horizontal eyebrow IEA IEA OMIM-CS:HEAD AND NECK_EYES > STRAIGHT EYEBROWS OMIM:615828 HPO:skoehler 11.07.2014 +OMIM:615828 #615828 MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; MRD24 HP:0000303 Mandibular prognathia IEA IEA OMIM-CS:HEAD AND NECK_FACE > PROMINENT CHIN OMIM:615828 HPO:skoehler 11.07.2014 +OMIM:615828 #615828 MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; MRD24 HP:0000179 Thick lower lip vermilion IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > FULL LOWER LIP OMIM:615828 HPO:skoehler 11.07.2014 +OMIM:615828 #615828 MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; MRD24 HP:0002719 Recurrent infections IEA IEA OMIM-CS:IMMUNOLOGY > RECURRENT INFECTIONS OMIM:615828 HPO:skoehler 11.07.2014 +OMIM:615828 #615828 MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; MRD24 HP:0000718 Aggressive behavior IEA IEA OMIM-CS:NEUROLOGIC_BEHAVIORAL/PSYCHIATRIC MANIFESTATIONS > AGGRESSIVE BEHAVIOR OMIM:615828 HPO:skoehler 11.07.2014 +OMIM:615828 #615828 MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; MRD24 HP:0000720 Mood swings IEA IEA OMIM-CS:NEUROLOGIC_BEHAVIORAL/PSYCHIATRIC MANIFESTATIONS > MOOD SWINGS OMIM:615828 HPO:skoehler 11.07.2014 +OMIM:615828 #615828 MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; MRD24 HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DEVELOPMENTAL DELAY OMIM:615828 HPO:skoehler 11.07.2014 +OMIM:615828 #615828 MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; MRD24 HP:0001288 Gait disturbance IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > GAIT ABNORMALITIES OMIM:615828 HPO:skoehler 11.07.2014 +OMIM:615828 #615828 MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; MRD24 HP:0001249 Intellectual disability IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, MODERATE TO SEVERE OMIM:615828 HPO:skoehler 11.07.2014 +OMIM:615828 #615828 MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; MRD24 HP:0000960 Sacral dimple IEA IEA rare OMIM-CS:SKIN, NAILS, HAIR_SKIN > SACRAL DIMPLE (2 PATIENTS) OMIM:615828 HPO:skoehler 11.07.2014 Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615828.tab ___________________________________________________________________ Added: svn:executable ## -0,0 +1 ## +* \ No newline at end of property Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615829.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615829.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615829.tab 2014-07-11 11:00:12 UTC (rev 5182) @@ -0,0 +1,16 @@ +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:615829 #615829 XIA-GIBBS SYNDROME;;MENTAL RETARDATION, AUTOSOMAL DOMINANT 25; MRD25 HP:0001508 Failure to thrive IEA IEA OMIM-CS:GROWTH_OTHER > FAILURE TO THRIVE OMIM:615829 HPO:skoehler 11.07.2014 +OMIM:615829 #615829 XIA-GIBBS SYNDROME;;MENTAL RETARDATION, AUTOSOMAL DOMINANT 25; MRD25 HP:0000369 Low-set ears IEA IEA OMIM-CS:HEAD AND NECK_EARS > LOW-SET EARS OMIM:615829 HPO:skoehler 11.07.2014 +OMIM:615829 #615829 XIA-GIBBS SYNDROME;;MENTAL RETARDATION, AUTOSOMAL DOMINANT 25; MRD25 HP:0000494 Downslanted palpebral fissures IEA IEA OMIM-CS:HEAD AND NECK_EYES > DOWNSLANTING PALPEBRAL FISSURES OMIM:615829 HPO:skoehler 11.07.2014 +OMIM:615829 #615829 XIA-GIBBS SYNDROME;;MENTAL RETARDATION, AUTOSOMAL DOMINANT 25; MRD25 HP:0000565 Esotropia IEA IEA OMIM-CS:HEAD AND NECK_EYES > ESOTROPIA OMIM:615829 HPO:skoehler 11.07.2014 +OMIM:615829 #615829 XIA-GIBBS SYNDROME;;MENTAL RETARDATION, AUTOSOMAL DOMINANT 25; MRD25 HP:0000316 Hypertelorism IEA IEA OMIM-CS:HEAD AND NECK_EYES > HYPERTELORISM OMIM:615829 HPO:skoehler 11.07.2014 +OMIM:615829 #615829 XIA-GIBBS SYNDROME;;MENTAL RETARDATION, AUTOSOMAL DOMINANT 25; MRD25 HP:0000582 Upslanted palpebral fissure IEA IEA OMIM-CS:HEAD AND NECK_EYES > UPSLANTING PALPEBRAL FISSURES OMIM:615829 HPO:skoehler 11.07.2014 +OMIM:615829 #615829 XIA-GIBBS SYNDROME;;MENTAL RETARDATION, AUTOSOMAL DOMINANT 25; MRD25 HP:0000347 Micrognathia IEA IEA OMIM-CS:HEAD AND NECK_FACE > MICROGNATHIA OMIM:615829 HPO:skoehler 11.07.2014 +OMIM:615829 #615829 XIA-GIBBS SYNDROME;;MENTAL RETARDATION, AUTOSOMAL DOMINANT 25; MRD25 HP:0005280 Depressed nasal bridge IEA IEA OMIM-CS:HEAD AND NECK_NOSE > FLAT NASAL BRIDGE OMIM:615829 HPO:skoehler 11.07.2014 +OMIM:615829 #615829 XIA-GIBBS SYNDROME;;MENTAL RETARDATION, AUTOSOMAL DOMINANT 25; MRD25 HP:0012448 Delayed myelination IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED MYELINATION OMIM:615829 HPO:skoehler 11.07.2014 +OMIM:615829 #615829 XIA-GIBBS SYNDROME;;MENTAL RETARDATION, AUTOSOMAL DOMINANT 25; MRD25 HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT OMIM:615829 HPO:skoehler 11.07.2014 +OMIM:615829 #615829 XIA-GIBBS SYNDROME;;MENTAL RETARDATION, AUTOSOMAL DOMINANT 25; MRD25 HP:0002079 Hypoplasia of the corpus callosum IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPOPLASIA OF THE CORPUS CALLOSUM OMIM:615829 HPO:skoehler 11.07.2014 +OMIM:615829 #615829 XIA-GIBBS SYNDROME;;MENTAL RETARDATION, AUTOSOMAL DOMINANT 25; MRD25 HP:0001249 Intellectual disability IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION OMIM:615829 HPO:skoehler 11.07.2014 +OMIM:615829 #615829 XIA-GIBBS SYNDROME;;MENTAL RETARDATION, AUTOSOMAL DOMINANT 25; MRD25 HP:0006951 Retrocerebellar cyst IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > RETROCEREBELLAR CYST (IN SOME PATIENTS) OMIM:615829 HPO:skoehler 11.07.2014 +OMIM:615829 #615829 XIA-GIBBS SYNDROME;;MENTAL RETARDATION, AUTOSOMAL DOMINANT 25; MRD25 HP:0002870 Obstructive sleep apnea IEA IEA OMIM-CS:RESPIRATORY > OBSTRUCTIVE SLEEP APNEA OMIM:615829 HPO:skoehler 11.07.2014 +OMIM:615829 #615829 XIA-GIBBS SYNDROME;;MENTAL RETARDATION, AUTOSOMAL DOMINANT 25; MRD25 HP:0001601 Laryngomalacia IEA IEA OMIM-CS:RESPIRATORY_LARYNX > LARYNGOMALACIA OMIM:615829 HPO:skoehler 11.07.2014 Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615829.tab ___________________________________________________________________ Added: svn:executable ## -0,0 +1 ## +* \ No newline at end of property Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615833.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615833.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615833.tab 2014-07-11 11:00:12 UTC (rev 5182) @@ -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:615833 #615833 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21; EIEE21 HP:0011968 Feeding difficulties IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > POOR FEEDING OMIM:615833 HPO:skoehler 11.07.2014 +OMIM:615833 #615833 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21; EIEE21 HP:0008936 Muscular hypotonia of the trunk IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > AXIAL HYPOTONIA OMIM:615833 HPO:skoehler 11.07.2014 +OMIM:615833 #615833 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21; EIEE21 HP:0001263 Global developmental delay IEA IEA MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, PROFOUND OMIM:615833 HPO:skoehler 11.07.2014 +OMIM:615833 #615833 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21; EIEE21 HP:0200134 Epileptic encephalopathy IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > EPILEPTIC ENCEPHALOPATHY OMIM:615833 HPO:skoehler 11.07.2014 +OMIM:615833 #615833 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21; EIEE21 HP:0001558 Decreased fetal movement IEA IEA OMIM-CS:PRENATAL MANIFESTATIONS_MOVEMENT > DECREASED FETAL MOVEMENTS OMIM:615833 HPO:skoehler 11.07.2014 Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615833.tab ___________________________________________________________________ Added: svn:executable ## -0,0 +1 ## +* \ No newline at end of property Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615841.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615841.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615841.tab 2014-07-11 11:00:12 UTC (rev 5182) @@ -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:615841 #615841 SPERMATOGENIC FAILURE 13; SPGF13 HP:0000027 Azoospermia IEA IEA OMIM-CS:GENITOURINARY_INTERNAL GENITALIA, MALE > AZOOSPERMIA OMIM:615841 HPO:skoehler 11.07.2014 Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615841.tab ___________________________________________________________________ Added: svn:executable ## -0,0 +1 ## +* \ No newline at end of property Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615842.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615842.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615842.tab 2014-07-11 11:00:12 UTC (rev 5182) @@ -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:615842 #615842 SPERMATOGENIC FAILURE 14; SPGF14 HP:0000027 Azoospermia IEA IEA OMIM-CS:GENITOURINARY_INTERNAL GENITALIA, MALE > AZOOSPERMIA OMIM:615842 HPO:skoehler 11.07.2014 Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615842.tab ___________________________________________________________________ Added: svn:executable ## -0,0 +1 ## +* \ No newline at end of property Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615859.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615859.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615859.tab 2014-07-11 11:00:12 UTC (rev 5182) @@ -0,0 +1,17 @@ +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:615859 #615859 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23 HP:0000377 Abnormality of the pinna IEA IEA OMIM-CS:HEAD AND NECK_EARS > ABNORMALLY SHAPED EARS OMIM:615859 HPO:skoehler 11.07.2014 +OMIM:615859 #615859 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23 HP:0100704 Cortical visual impairment IEA IEA OMIM-CS:HEAD AND NECK_EYES > CORTICAL BLINDNESS OMIM:615859 HPO:skoehler 11.07.2014 +OMIM:615859 #615859 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23 HP:0100704 Cortical visual impairment IEA IEA OMIM-CS:HEAD AND NECK_EYES > CORTICAL VISUAL IMPAIRMENT OMIM:615859 HPO:skoehler 11.07.2014 +OMIM:615859 #615859 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23 HP:0000506 Telecanthus IEA IEA OMIM-CS:HEAD AND NECK_EYES > TELECANTHUS OMIM:615859 HPO:skoehler 11.07.2014 +OMIM:615859 #615859 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23 HP:0000574 Thick eyebrow IEA IEA OMIM-CS:HEAD AND NECK_EYES > THICK EYEBROWS OMIM:615859 HPO:skoehler 11.07.2014 +OMIM:615859 #615859 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23 HP:0000341 Narrow forehead IEA IEA OMIM-CS:HEAD AND NECK_FACE > BITEMPORAL NARROWING OMIM:615859 HPO:skoehler 11.07.2014 +OMIM:615859 #615859 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23 HP:0000629 Periorbital fullness IEA IEA OMIM-CS:HEAD AND NECK_FACE > PERIORBITAL FULLNESS OMIM:615859 HPO:skoehler 11.07.2014 +OMIM:615859 #615859 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23 HP:0000322 Short philtrum IEA IEA OMIM-CS:HEAD AND NECK_FACE > SHORT PHILTRUM OMIM:615859 HPO:skoehler 11.07.2014 +OMIM:615859 #615859 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23 HP:0012471 Thick vermilion border IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > FULL LIPS OMIM:615859 HPO:skoehler 11.07.2014 +OMIM:615859 #615859 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23 HP:0000463 Anteverted nares IEA IEA OMIM-CS:HEAD AND NECK_NOSE > ANTEVERTED NARES OMIM:615859 HPO:skoehler 11.07.2014 +OMIM:615859 #615859 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23 HP:0000455 Broad nasal tip IEA IEA OMIM-CS:HEAD AND NECK_NOSE > BROAD NASAL TIP OMIM:615859 HPO:skoehler 11.07.2014 +OMIM:615859 #615859 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23 HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT OMIM:615859 HPO:skoehler 11.07.2014 +OMIM:615859 #615859 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23 HP:0200134 Epileptic encephalopathy IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > EPILEPTIC ENCEPHALOPATHY OMIM:615859 HPO:skoehler 11.07.2014 +OMIM:615859 #615859 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23 HP:0002521 Hypsarrhythmia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPSARRHYTHMIA OMIM:615859 HPO:skoehler 11.07.2014 +OMIM:615859 #615859 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23 HP:0002079 Hypoplasia of the corpus callosum IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > THIN CORPUS CALLOSUM OMIM:615859 HPO:skoehler 11.07.2014 +OMIM:615859 #615859 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23 HP:0000294 Low anterior hairline IEA IEA OMIM-CS:SKIN, NAILS, HAIR_HAIR > LOW ANTERIOR HAIRLINE OMIM:615859 HPO:skoehler 11.07.2014 Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615859.tab ___________________________________________________________________ Added: svn:executable ## -0,0 +1 ## +* \ No newline at end of property Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615862.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615862.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615862.tab 2014-07-11 11:00:12 UTC (rev 5182) @@ -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:615862 #615862 NEPHRONOPHTHISIS 18; NPHP18 HP:0001396 Cholestasis IEA IEA rare OMIM-CS:ABDOMEN_LIVER > CHOLESTASIS (IN SOME PATIENTS) OMIM:615862 HPO:skoehler 11.07.2014 +OMIM:615862 #615862 NEPHRONOPHTHISIS 18; NPHP18 HP:0006580 Portal fibrosis IEA IEA rare OMIM-CS:ABDOMEN_LIVER > PORTAL FIBROSIS (IN SOME PATIENTS) OMIM:615862 HPO:skoehler 11.07.2014 +OMIM:615862 #615862 NEPHRONOPHTHISIS 18; NPHP18 HP:0003774 Stage 5 chronic kidney disease IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > END-STAGE RENAL DISEASE OMIM:615862 HPO:skoehler 11.07.2014 +OMIM:615862 #615862 NEPHRONOPHTHISIS 18; NPHP18 HP:0000090 Nephronophthisis IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > NEPHRONOPHTHISIS OMIM:615862 HPO:skoehler 11.07.2014 +OMIM:615862 #615862 NEPHRONOPHTHISIS 18; NPHP18 HP:0004722 Thickening of the glomerular basement membrane IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > THICKENING OF THE GLOMERULAR BASEMENT MEMBRANE OMIM:615862 HPO:skoehler 11.07.2014 +OMIM:615862 #615862 NEPHRONOPHTHISIS 18; NPHP18 HP:0000092 Tubular atrophy IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > TUBULAR ATROPHY OMIM:615862 HPO:skoehler 11.07.2014 +OMIM:615862 #615862 NEPHRONOPHTHISIS 18; NPHP18 HP:0001970 Tubulointerstitial nephritis IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > TUBULOINTERSTITIAL NEPHRITIS OMIM:615862 HPO:skoehler 11.07.2014 +OMIM:615862 #615862 NEPHRONOPHTHISIS 18; NPHP18 HP:0000486 Strabismus IEA IEA rare OMIM-CS:HEAD AND NECK_EARS > STRABISMUS (IN SOME PATIENTS) OMIM:615862 HPO:skoehler 11.07.2014 +OMIM:615862 #615862 NEPHRONOPHTHISIS 18; NPHP18 HP:0000238 Hydrocephalus IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYDROCEPHALUS (IN SOME PATIENTS) OMIM:615862 HPO:skoehler 11.07.2014 +OMIM:615862 #615862 NEPHRONOPHTHISIS 18; NPHP18 HP:0001249 Intellectual disability IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTELLECTUAL DISABILITY (IN SOME PATIENTS) OMIM:615862 HPO:skoehler 11.07.2014 Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615862.tab ___________________________________________________________________ Added: svn:executable ## -0,0 +1 ## +* \ No newline at end of property Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615863.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615863.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615863.tab 2014-07-11 11:00:12 UTC (rev 5182) @@ -0,0 +1,5 @@ +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:615863 #615863 DIARRHEA 7; DIAR7 HP:0002243 Protein-losing enteropathy IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > PROTEIN-LOSING ENTEROPATHY OMIM:615863 HPO:skoehler 11.07.2014 +OMIM:615863 #615863 DIARRHEA 7; DIAR7 HP:0002013 Vomiting IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > VOMITING OMIM:615863 HPO:skoehler 11.07.2014 +OMIM:615863 #615863 DIARRHEA 7; DIAR7 HP:0003077 Hyperlipidemia IEA IEA OMIM-CS:LABORATORY ABNORMALITIES > HYPERLIPIDEMIA OMIM:615863 HPO:skoehler 11.07.2014 +OMIM:615863 #615863 DIARRHEA 7; DIAR7 HP:0003073 Hypoalbuminemia IEA IEA OMIM-CS:LABORATORY ABNORMALITIES > HYPOALBUMINEMIA OMIM:615863 HPO:skoehler 11.07.2014 Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615863.tab ___________________________________________________________________ Added: svn:executable ## -0,0 +1 ## +* \ No newline at end of property This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site. |