- Jan 2020
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reg.clinicalgenome.org reg.clinicalgenome.org
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allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA915940549
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reg.clinicalgenome.org reg.clinicalgenome.org
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allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA398917343
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www.sciencedirect.com www.sciencedirect.com
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allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399189115
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allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399196709
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allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA398915284
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allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399193661
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allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399185143
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down-slanting eyelid
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0200006
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short proximal extremities
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0009815
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3
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001947
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3
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001942
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8
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001763
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5
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001763
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8
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001382
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5
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001382
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4
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002415
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6
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000175
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8
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002705
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5
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002705
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3
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002705
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6
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000369
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5
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000369
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3
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000369
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3
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000325
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3
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000322
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2
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0005280
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6
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000316
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8
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000348
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6
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000348
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5
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000348
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3
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000348
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6
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002003
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2
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002003
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macrocephaly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000256
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macrocephaly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000256
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macrocephaly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000256
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7
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000717
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2
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000717
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5
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000736
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1
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000736
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5
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0007018
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1
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0007018
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5
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001265
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1
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000639
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1
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000540
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1
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000505
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1
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000407
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muscular hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252
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muscular hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252
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muscular hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252
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muscular hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252
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muscular hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252
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muscular hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252
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seizures
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001250
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intellectual disability
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
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intellectual disability
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
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intellectual disability
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
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intellectual disability
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
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motor development
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270
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motor development
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270
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motor development
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270
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motor development
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270
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motor development
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270
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motor development
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270
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speech and language development
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750
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speech and language development
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750
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speech and language development
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750
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speech and language development
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750
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speech and language development
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750
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developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
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developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
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developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
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developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
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developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
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developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
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TAOK1
Tags
- HP:0000325
- HP:0001763
- HP:0000717
- HP:0001250
- HP:0001252
- alleleLookup:individual
- individual:5
- individual:8
- HP:0000348
- HP:0001270
- alleleLookup
- individual:2
- allele:CA399189115
- HP:0200006
- individual:7
- allele:CA399193661
- HP:0000540
- HP:0001382
- monarchLookup
- allele:CA399196709
- HP:0000322
- HP:0002415
- HP:0000175
- HP:0002705
- gene:TAOK1
- individual:1
- ClinGen
- HP:0001263
- allele:CA398915284
- HP:0005280
- HP:0001942
- HP:0000505
- hpoLookup:individual
- individual:3
- HP:0001249
- pmid:undefined
- allele:CA399185143
- HP:0000316
- HP:0002003
- individual:4
- HP:0000407
- hpoLookup
- HP:0000369
- HP:0007018
- individual:6
- HP:0009815
- HP:0000736
- HP:0001265
- HP:0001947
- HP:0000256
- HP:0000750
- HP:0000639
Annotators
URL
-
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reg.clinicalgenome.org reg.clinicalgenome.org
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allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399193709
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