57 Matching Annotations
  1. Jan 2020
  2. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S000292971930432X
    10
    1. megan_mayers 15 Jan 2020
      hyperphagia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002591

      ClinGen hpoLookup monarchLookup HP:0002591 hpoLookup:group group:1 gene:MN1
    2. megan_mayers 15 Jan 2020
      anteverted nares

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000463

      ClinGen hpoLookup monarchLookup HP:0000463 hpoLookup:group group:1 gene:MN1
    3. megan_mayers 15 Jan 2020
      short nose

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003196

      ClinGen hpoLookup monarchLookup HP:0003196 hpoLookup:group group:1 gene:MN1
    4. megan_mayers 15 Jan 2020
      low-set ears

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

      ClinGen hpoLookup monarchLookup HP:0000369 hpoLookup:group group:1 gene:MN1
    5. megan_mayers 15 Jan 2020
      widely spaced eyes

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000316

      ClinGen hpoLookup monarchLookup HP:0000316 hpoLookup:group group:1 gene:MN1
    6. megan_mayers 15 Jan 2020
      thick eyebrows

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000574

      ClinGen hpoLookup monarchLookup HP:0000574 hpoLookup:group group:1 gene:MN1
    7. megan_mayers 15 Jan 2020
      flat face

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012368

      ClinGen hpoLookup monarchLookup HP:0012368 hpoLookup:group group:1 gene:MN1
    8. megan_mayers 15 Jan 2020
      dolichocephaly

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000268

      ClinGen hpoLookup monarchLookup HP:0000268 hpoLookup:group group:1 gene:MN1
    9. megan_mayers 15 Jan 2020
      speech impairment

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002167

      ClinGen hpoLookup monarchLookup HP:0002167 hpoLookup:group group:1 gene:MN1
    10. megan_mayers 15 Jan 2020
      severe developmental delay

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011344

      ClinGen hpoLookup monarchLookup HP:0011344 hpoLookup:group group:1 gene:MN1
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    sciencedirect.com/science/article/pii/S000292971930432X
  3. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719303489
    23
    1. megan_mayers 14 Jan 2020
      aortic dilatation

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004942

      ClinGen hpoLookup monarchLookup HP:0004942 hpoLookup:group group:1 gene:NKAP
    2. megan_mayers 14 Jan 2020
      small patent ductus arteriosus

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001643

      ClinGen hpoLookup monarchLookup HP:0001643 hpoLookup:group group:1 gene:NKAP
    3. megan_mayers 14 Jan 2020
      ventricular septal defect

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001629

      ClinGen hpoLookup monarchLookup HP:0001629 hpoLookup:group group:1 gene:NKAP
    4. megan_mayers 14 Jan 2020
      atrial septal defect

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001631

      ClinGen hpoLookup monarchLookup HP:0001631 hpoLookup:group group:1 gene:NKAP
    5. megan_mayers 14 Jan 2020
      mitral valve regurgitation

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

      ClinGen hpoLookup monarchLookup HP:0001653 hpoLookup:group group:1 gene:NKAP
    6. megan_mayers 14 Jan 2020
      aggressive behaviors

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000718

      ClinGen hpoLookup monarchLookup HP:0000718 hpoLookup:group group:1 gene:NKAP
    7. megan_mayers 14 Jan 2020
      attention deficit hyperactivity disorder

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0007018

      ClinGen hpoLookup monarchLookup HP:0007018 hpoLookup:group group:1 gene:NKAP
    8. megan_mayers 14 Jan 2020
      central obesity

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012743

      ClinGen hpoLookup monarchLookup HP:0012743 hpoLookup:group group:1 gene:NKAP
    9. megan_mayers 14 Jan 2020
      cryptorchidism

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000028

      ClinGen hpoLookup monarchLookup HP:0000028 hpoLookup:group group:1 gene:NKAP
    10. megan_mayers 14 Jan 2020
      Talipes equinovarus

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001762

      ClinGen hpoLookup monarchLookup HP:0001762 hpoLookup:group group:1 gene:NKAP
    11. megan_mayers 14 Jan 2020
      arachnodactyly

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

      ClinGen hpoLookup monarchLookup HP:0001166 hpoLookup:group group:1 gene:NKAP
    12. megan_mayers 14 Jan 2020
      scoliosis

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

      ClinGen hpoLookup monarchLookup HP:0002650 hpoLookup:group group:1 gene:NKAP
    13. megan_mayers 14 Jan 2020
      excavatum

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000767

      ClinGen hpoLookup monarchLookup HP:0000767 hpoLookup:group group:1 gene:NKAP
    14. megan_mayers 14 Jan 2020
      pectus carinatum

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000768

      ClinGen hpoLookup monarchLookup HP:0000768 hpoLookup:group group:1 gene:NKAP
    15. megan_mayers 14 Jan 2020
      short philtrum

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

      ClinGen hpoLookup monarchLookup HP:0000322 hpoLookup:group group:1 gene:NKAP
    16. megan_mayers 14 Jan 2020
      large ears

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000400

      ClinGen hpoLookup monarchLookup HP:0000400 hpoLookup:group group:1 gene:NKAP
    17. megan_mayers 14 Jan 2020
      midface hypoplasia

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

      ClinGen hpoLookup monarchLookup HP:0011800 hpoLookup:group group:1 gene:NKAP
    18. megan_mayers 14 Jan 2020
      open-mouth appearance

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

      ClinGen hpoLookup monarchLookup HP:0000194 hpoLookup:group group:1 gene:NKAP
    19. megan_mayers 14 Jan 2020
      long face

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

      ClinGen hpoLookup monarchLookup HP:0000276 hpoLookup:group group:1 gene:NKAP
    20. megan_mayers 14 Jan 2020
      hypotonia

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

      ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:group group:1 gene:NKAP
    21. megan_mayers 14 Jan 2020
      tall stature

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

      ClinGen hpoLookup monarchLookup HP:0000098 hpoLookup:group group:1 gene:NKAP
    22. megan_mayers 14 Jan 2020
      intellectual disability (ID)

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

      ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:group group:1 gene:NKAP
    23. megan_mayers 14 Jan 2020
      developmental delay

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

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:group group:1 gene:NKAP
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    sciencedirect.com/science/article/pii/S0002929719303489
  4. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301636
    4
    1. may_flowers 05 Jan 2020
      absent

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0032558

      ClinGen hpoLookup monarchLookup HP:0032558 hpoLookup:group group:1 gene:DNAH17
    2. may_flowers 05 Jan 2020
      coiled

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0032560

      ClinGen hpoLookup monarchLookup HP:0032560 hpoLookup:group group:1 gene:DNAH17
    3. may_flowers 05 Jan 2020
      short

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0032559

      ClinGen hpoLookup monarchLookup HP:0032559 hpoLookup:group group:1 gene:DNAH17
    4. may_flowers 05 Jan 2020
      asthenozoospermia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012207

      ClinGen hpoLookup monarchLookup HP:0012207 hpoLookup:group group:1 gene:DNAH17
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    sciencedirect.com/science/article/pii/S0002929719301636
  5. Dec 2019
  6. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301983
    13
    1. may_flowers 20 Dec 2019
      coagulopathy

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003256

      ClinGen hpoLookup monarchLookup HP:0003256 hpoLookup:group group:1 gene:RINT1
    2. may_flowers 20 Dec 2019
      hyperammonemia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001987

      ClinGen hpoLookup monarchLookup HP:0001987 hpoLookup:group group:1 gene:RINT1
    3. may_flowers 19 Dec 2019
      Abnormal femoral head epiphysis

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0010574

      ClinGen hpoLookup monarchLookup HP:0010574 hpoLookup:group group:1 gene:RINT1
    4. may_flowers 19 Dec 2019
      Irregular vertebrae

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004582

      ClinGen hpoLookup monarchLookup HP:0004582 hpoLookup:group group:1 gene:RINT1
    5. may_flowers 19 Dec 2019
      Hypoplastic vertebrae

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008417

      ClinGen hpoLookup monarchLookup HP:0008417 hpoLookup:group group:1 gene:RINT1
    6. may_flowers 19 Dec 2019
      INR

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008151

      ClinGen hpoLookup monarchLookup HP:0008151 hpoLookup:group group:1 gene:RINT1
    7. may_flowers 19 Dec 2019
      RALF

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0006554

      ClinGen hpoLookup monarchLookup HP:0006554 hpoLookup:group group:1 gene:RINT1
    8. may_flowers 19 Dec 2019
      Hepatomegaly

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002240

      ClinGen hpoLookup monarchLookup HP:0002240 hpoLookup:group group:1 gene:RINT1
    9. may_flowers 19 Dec 2019
      Prothrombin time

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008151

      ClinGen hpoLookup monarchLookup HP:0008151 hpoLookup:group group:1 gene:RINT1
    10. may_flowers 19 Dec 2019
      Total bilirubin

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003573

      ClinGen hpoLookup monarchLookup HP:0003573 hpoLookup:group group:1 gene:RINT1
    11. may_flowers 19 Dec 2019
      AST

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0031956

      ClinGen hpoLookup monarchLookup HP:0031956 hpoLookup:group group:1 gene:RINT1
    12. may_flowers 19 Dec 2019
      ALT

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0031964

      ClinGen hpoLookup monarchLookup HP:0031964 hpoLookup:group group:1 gene:RINT1
    13. may_flowers 19 Dec 2019
      Glucose

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001943

      ClinGen hpoLookup monarchLookup HP:0001943 hpoLookup:group group:1 gene:RINT1
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    sciencedirect.com/science/article/pii/S0002929719301983
  7. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719302733?via%3Dihub
    1
    1. cthaxton 05 Dec 2019
      ID

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

      ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:group group:1 gene:DDX6
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    sciencedirect.com/science/article/pii/S0002929719302733
  8. Oct 2019
  9. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder
    1
    1. cthaxton 01 Oct 2019
      developmental delay

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

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:group group:1 gene:developmental delay
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    ncbi.nlm.nih.gov/pmc/articles/PMC6080769/
  10. onlinelibrary.wiley.com onlinelibrary.wiley.com
    https://onlinelibrary.wiley.com/doi/full/10.1111/cge.13608
    1
    1. cthaxton 01 Oct 2019
      progressive microcephaly

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000252

      ClinGen hpoLookup monarchLookup HP:0000252 hpoLookup:group group:1 gene:PLAA
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    onlinelibrary.wiley.com/doi/full/10.1111/cge.13608
  11. Sep 2019
  12. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder
    4
    1. cthaxton 11 Sep 2019
      Facial dysmorphisms

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0000271

      ClinGen hpoLookup monarchLookup HP%3A0000271 hpoLookup:group group:1 gene:FBXO11
    2. cthaxton 11 Sep 2019
      sleeping difficulties

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002360

      ClinGen hpoLookup monarchLookup HP:0002360 hpoLookup:group group:1 gene:FBXO11
    3. cthaxton 11 Sep 2019
      Behavioral abnormalities

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000708

      ClinGen hpoLookup monarchLookup HP:0000708 hpoLookup:group group:1 gene:FBXO11
    4. cthaxton 11 Sep 2019
      developmental delay

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

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:group group:1 gene:FBXO11
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6080769/