36 Matching Annotations
  1. Jan 2020
  2. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719303489
    15
    1. megan_mayers 22 Jan 2020
      Arachnodactyly

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001166

      ClinGen hpoLookup monarchLookup HP:0001166 hpoLookup:individual individual:3 gene:NKAP
    2. megan_mayers 22 Jan 2020
      Camptodactyly

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012385

      ClinGen hpoLookup monarchLookup HP:0012385 hpoLookup:individual individual:3 gene:NKAP
    3. megan_mayers 22 Jan 2020
      Joint laxity

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001388

      ClinGen hpoLookup monarchLookup HP:0001388 hpoLookup:individual individual:3 gene:NKAP
    4. megan_mayers 22 Jan 2020
      Slender limbs

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001533

      ClinGen hpoLookup monarchLookup HP:0001533 hpoLookup:individual individual:3 gene:NKAP
    5. megan_mayers 22 Jan 2020
      Scoliosis

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002650

      ClinGen hpoLookup monarchLookup HP:0002650 hpoLookup:individual individual:3 gene:NKAP
    6. megan_mayers 22 Jan 2020
      Tall stature

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000098

      ClinGen hpoLookup monarchLookup HP:0000098 hpoLookup:individual individual:3 gene:NKAP
    7. megan_mayers 22 Jan 2020
      mild mitral valve regurgitation

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001653

      ClinGen hpoLookup monarchLookup HP:0001653 hpoLookup:individual individual:3 gene:NKAP
    8. megan_mayers 22 Jan 2020
      Midface hypoplasia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011800

      ClinGen hpoLookup monarchLookup HP:0011800 hpoLookup:individual individual:3 gene:NKAP
    9. megan_mayers 22 Jan 2020
      Open mouth appearance

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000194

      ClinGen hpoLookup monarchLookup HP:0000194 hpoLookup:individual individual:3 gene:NKAP
    10. megan_mayers 22 Jan 2020
      Short philtrum

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000322

      ClinGen hpoLookup monarchLookup HP:0000322 hpoLookup:individual individual:3 gene:NKAP
    11. megan_mayers 22 Jan 2020
      Long face

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000276

      ClinGen hpoLookup monarchLookup HP:0000276 hpoLookup:individual individual:3 gene:NKAP
    12. megan_mayers 22 Jan 2020
      Hypotonia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290

      ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:individual individual:3 gene:NKAP
    13. megan_mayers 22 Jan 2020
      intellectual disability

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249

      ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:3 gene:NKAP
    14. megan_mayers 22 Jan 2020
      Developmental delay

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:3 gene:NKAP
    15. megan_mayers 22 Jan 2020

      allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA414193300

      ClinGen alleleLookup allele:CA414193300 alleleLookup:individual individual:3 gene:NKAP
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    sciencedirect.com/science/article/pii/S0002929719303489
  3. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S000292971930432X
    1
    1. megan_mayers 15 Jan 2020

      allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA915940579

      ClinGen alleleLookup allele:CA915940579 alleleLookup:individual individual:3 gene:MN1
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    sciencedirect.com/science/article/pii/S000292971930432X
  4. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301910
    11
    1. may_flowers 06 Jan 2020

      allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA398915284

      ClinGen alleleLookup allele:CA398915284 alleleLookup:individual individual:3 gene:TAOK1
    2. may_flowers 05 Jan 2020
      3

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001947

      ClinGen hpoLookup monarchLookup HP:0001947 hpoLookup:individual individual:3 gene:TAOK1
    3. may_flowers 05 Jan 2020
      3

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001942

      ClinGen hpoLookup monarchLookup HP:0001942 hpoLookup:individual individual:3 gene:TAOK1
    4. may_flowers 05 Jan 2020
      3

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002705

      ClinGen hpoLookup monarchLookup HP:0002705 hpoLookup:individual individual:3 gene:TAOK1
    5. may_flowers 05 Jan 2020
      3

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000369

      ClinGen hpoLookup monarchLookup HP:0000369 hpoLookup:individual individual:3 gene:TAOK1
    6. may_flowers 05 Jan 2020
      3

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000325

      ClinGen hpoLookup monarchLookup HP:0000325 hpoLookup:individual individual:3 gene:TAOK1
    7. may_flowers 05 Jan 2020
      3

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000322

      ClinGen hpoLookup monarchLookup HP:0000322 hpoLookup:individual individual:3 gene:TAOK1
    8. may_flowers 05 Jan 2020
      3

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000348

      ClinGen hpoLookup monarchLookup HP:0000348 hpoLookup:individual individual:3 gene:TAOK1
    9. may_flowers 05 Jan 2020
      macrocephaly

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000256

      ClinGen hpoLookup monarchLookup HP:0000256 hpoLookup:individual individual:3 gene:TAOK1
    10. may_flowers 05 Jan 2020
      intellectual disability

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249

      ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:3 gene:TAOK1
    11. may_flowers 05 Jan 2020
      developmental delay

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:3 gene:TAOK1
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    sciencedirect.com/science/article/pii/S0002929719301910
  5. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301636
    1
    1. may_flowers 05 Jan 2020

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/

      ClinGen variantLookup variant:692266 variantLookup:individual individual:3 gene:DNAH17
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    sciencedirect.com/science/article/pii/S0002929719301636
  6. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/
    1
    1. may_flowers 05 Jan 2020

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/

      ClinGen variantLookup variant:692266 variantLookup:individual individual:3 gene:DNAH17
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    ncbi.nlm.nih.gov/clinvar/variation/692266/
  7. Dec 2019
  8. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301983
    5
    1. may_flowers 20 Dec 2019
      2 cm (in acute setting)

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001744

      ClinGen hpoLookup monarchLookup HP:0001744 hpoLookup:individual individual:3 gene:RINT1
    2. may_flowers 20 Dec 2019
      hyperechoic cortex of both kidneys

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004719

      ClinGen hpoLookup monarchLookup HP:0004719 hpoLookup:individual individual:3 gene:RINT1
    3. may_flowers 20 Dec 2019
      aortic insufficiency

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001659

      ClinGen hpoLookup monarchLookup HP:0001659 hpoLookup:individual individual:3 gene:RINT1
    4. may_flowers 19 Dec 2019

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/547947/

      ClinGen variantLookup variant:547947 variantLookup:individual individual:3 gene:RINT1
    5. may_flowers 19 Dec 2019

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/599396/

      ClinGen variantLookup variant:599396 variantLookup:individual individual:3 gene:RINT1
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    sciencedirect.com/science/article/pii/S0002929719301983
  9. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301892
    2
    1. may_flowers 19 Dec 2019
      hyperkinetic

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002487

      ClinGen hpoLookup monarchLookup HP:0002487 hpoLookup:individual individual:3 gene:NUP214
    2. may_flowers 19 Dec 2019
      nystagmus

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000639

      ClinGen hpoLookup monarchLookup HP:0000639 hpoLookup:individual individual:3 gene:NUP214
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    sciencedirect.com/science/article/pii/S0002929719301892