- Jan 2020
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www.sciencedirect.com www.sciencedirect.com
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Arachnodactyly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001166
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Camptodactyly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012385
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Joint laxity
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001388
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Slender limbs
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001533
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Scoliosis
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002650
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Tall stature
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000098
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mild mitral valve regurgitation
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001653
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Midface hypoplasia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011800
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Open mouth appearance
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000194
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Short philtrum
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000322
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Long face
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000276
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Hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
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intellectual disability
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
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Developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
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allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA414193300
Tags
- alleleLookup
- monarchLookup
- HP:0001249
- HP:0001533
- individual:3
- alleleLookup:individual
- HP:0000098
- HP:0000194
- HP:0000322
- gene:NKAP
- HP:0001263
- allele:CA414193300
- ClinGen
- hpoLookup:individual
- HP:0012385
- HP:0011800
- HP:0000276
- HP:0002650
- hpoLookup
- HP:0001166
- HP:0001388
- HP:0001653
- HP:0001290
Annotators
URL
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www.sciencedirect.com www.sciencedirect.com
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allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA915940579
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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=CA398915284
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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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3
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002705
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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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3
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000348
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macrocephaly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000256
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intellectual disability
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
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developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
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www.sciencedirect.com www.sciencedirect.com
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/
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- Dec 2019
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www.sciencedirect.com www.sciencedirect.com
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2 cm (in acute setting)
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001744
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hyperechoic cortex of both kidneys
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004719
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aortic insufficiency
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001659
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variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/547947/
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variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/599396/
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www.sciencedirect.com www.sciencedirect.com
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hyperkinetic
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002487
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nystagmus
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000639
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