265 Matching Annotations
  1. Sep 2020
  2. localhost:8001 localhost:8001
    https://localhost:8001/test.html
    1
    1. judell 16 Sep 2020
      truncus arteriosus

      Monarch lookup result: http://localhost:8001/test.html

      ClinGen hpoLookup monarchLookup HP:0001660 hpoLookup:individual individual:1 gene:TMEM260
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    localhost:8001/test.html
  3. Jan 2020
  4. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0960896613009826
    2
    1. may_flowers 22 Jan 2020
      high arched palate

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000218

      ClinGen hpoLookup monarchLookup HP:0000218 hpoLookup:individual individual:1 gene:TPM3 case:notHPO
    2. may_flowers 15 Jan 2020
      axial muscle weakness

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003327

      ClinGen hpoLookup monarchLookup HP:0003327 hpoLookup:individual individual:2 gene:SGCG
    Visit annotations in context

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    URL

    sciencedirect.com/science/article/pii/S0960896613009826
  5. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719303489
    73
    1. megan_mayers 22 Jan 2020
      Joint laxity

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

      ClinGen hpoLookup monarchLookup HP:0001388 hpoLookup:individual individual:5 gene:NKAP
    2. megan_mayers 22 Jan 2020
      Slender limbs

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

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

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

      ClinGen hpoLookup monarchLookup HP:0000768 hpoLookup:individual individual:5 gene:NKAP
    4. megan_mayers 22 Jan 2020
      Scoliosis

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

      ClinGen hpoLookup monarchLookup HP:0002650 hpoLookup:individual individual:5 gene:NKAP
    5. megan_mayers 22 Jan 2020
      Tall stature

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

      ClinGen hpoLookup monarchLookup HP:0000098 hpoLookup:individual individual:5 gene:NKAP
    6. megan_mayers 22 Jan 2020
      large ears

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

      ClinGen hpoLookup monarchLookup HP:0000400 hpoLookup:individual individual:5 gene:NKAP
    7. megan_mayers 22 Jan 2020
      Midface hypoplasia

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

      ClinGen hpoLookup monarchLookup HP:0011800 hpoLookup:individual individual:5 gene:NKAP
    8. 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:5 gene:NKAP
    9. megan_mayers 22 Jan 2020
      Long face

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

      ClinGen hpoLookup monarchLookup HP:0000276 hpoLookup:individual individual:5 gene:NKAP
    10. megan_mayers 22 Jan 2020
      aggressive behavior

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

      ClinGen hpoLookup monarchLookup HP:0000718 hpoLookup:individual individual:5 gene:NKAP
    11. megan_mayers 22 Jan 2020
      intellectual disability

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

      ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:5 gene:NKAP
    12. megan_mayers 22 Jan 2020
      Developmental delay

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

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:5 gene:NKAP
    13. megan_mayers 22 Jan 2020
      Arachnodactyly

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

      ClinGen hpoLookup monarchLookup HP:0001166 hpoLookup:individual individual:4 gene:NKAP
    14. megan_mayers 22 Jan 2020
      Joint laxity

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

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

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

      ClinGen hpoLookup monarchLookup HP:0001533 hpoLookup:individual individual:4 gene:NKAP
    16. megan_mayers 22 Jan 2020
      Scoliosis

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

      ClinGen hpoLookup monarchLookup HP:0002650 hpoLookup:individual individual:4 gene:NKAP
    17. megan_mayers 22 Jan 2020
      Tall stature

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

      ClinGen hpoLookup monarchLookup HP:0000098 hpoLookup:individual individual:4 gene:NKAP
    18. megan_mayers 22 Jan 2020
      aortic root dilatation

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002616

      ClinGen hpoLookup monarchLookup HP:0002616 hpoLookup:individual individual:4 gene:NKAP
    19. megan_mayers 22 Jan 2020
      mitral regurgitation

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

      ClinGen hpoLookup monarchLookup HP:0001653 hpoLookup:individual individual:4 gene:NKAP
    20. megan_mayers 22 Jan 2020
      mitral valve prolapse

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001634

      ClinGen hpoLookup monarchLookup HP:0001634 hpoLookup:individual individual:4 gene:NKAP
    21. megan_mayers 22 Jan 2020
      large ears

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

      ClinGen hpoLookup monarchLookup HP:0000400 hpoLookup:individual individual:4 gene:NKAP
    22. megan_mayers 22 Jan 2020
      Midface hypoplasia

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

      ClinGen hpoLookup monarchLookup HP:0011800 hpoLookup:individual individual:4 gene:NKAP
    23. 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:4 gene:NKAP
    24. megan_mayers 22 Jan 2020
      Short philtrum

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

      ClinGen hpoLookup monarchLookup HP:0000322 hpoLookup:individual individual:4 gene:NKAP
    25. megan_mayers 22 Jan 2020
      Long face

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

      ClinGen hpoLookup monarchLookup HP:0000276 hpoLookup:individual individual:4 gene:NKAP
    26. megan_mayers 22 Jan 2020
      Hypotonia

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

      ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:individual individual:4 gene:NKAP
    27. megan_mayers 22 Jan 2020
      aggressive behavior

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

      ClinGen hpoLookup monarchLookup HP:0000718 hpoLookup:individual individual:4 gene:NKAP
    28. megan_mayers 22 Jan 2020
      intellectual disability

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

      ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:4 gene:NKAP
    29. megan_mayers 22 Jan 2020
      Developmental delay

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

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:4 gene:NKAP
    30. 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
    31. 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
    32. 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
    33. 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
    34. 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
    35. 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
    36. 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
    37. 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
    38. 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
    39. 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
    40. 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
    41. 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
    42. 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
    43. 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
    44. megan_mayers 22 Jan 2020
      Arachnodactyly

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

      ClinGen hpoLookup monarchLookup HP:0001166 hpoLookup:individual individual:2 gene:NKAP
    45. megan_mayers 22 Jan 2020
      Joint laxity

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

      ClinGen hpoLookup monarchLookup HP:0001388 hpoLookup:individual individual:2 gene:NKAP
    46. megan_mayers 22 Jan 2020
      Slender limbs

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

      ClinGen hpoLookup monarchLookup HP:0001533 hpoLookup:individual individual:2 gene:NKAP
    47. megan_mayers 22 Jan 2020
      Scoliosis

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

      ClinGen hpoLookup monarchLookup HP:0002650 hpoLookup:individual individual:2 gene:NKAP
    48. megan_mayers 22 Jan 2020
      Tall stature

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

      ClinGen hpoLookup monarchLookup HP:0000098 hpoLookup:individual individual:2 gene:NKAP
    49. megan_mayers 22 Jan 2020
      small patent ductal arteriosus

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

      ClinGen hpoLookup monarchLookup HP:0001643 hpoLookup:individual individual:2 gene:NKAP
    50. megan_mayers 22 Jan 2020
      large ears

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

      ClinGen hpoLookup monarchLookup HP:0000400 hpoLookup:individual individual:2 gene:NKAP
    51. megan_mayers 22 Jan 2020
      Midface hypoplasia

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

      ClinGen hpoLookup monarchLookup HP:0011800 hpoLookup:individual individual:2 gene:NKAP
    52. 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:2 gene:NKAP
    53. megan_mayers 22 Jan 2020
      Short philtrum

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

      ClinGen hpoLookup monarchLookup HP:0000322 hpoLookup:individual individual:2 gene:NKAP
    54. megan_mayers 22 Jan 2020
      Long face

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

      ClinGen hpoLookup monarchLookup HP:0000276 hpoLookup:individual individual:2 gene:NKAP
    55. megan_mayers 22 Jan 2020
      Hypotonia

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

      ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:individual individual:2 gene:NKAP
    56. megan_mayers 22 Jan 2020
      intellectual disability

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

      ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:2 gene:NKAP
    57. megan_mayers 22 Jan 2020
      Developmental delay

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

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:2 gene:NKAP
    58. megan_mayers 14 Jan 2020
      Arachnodactyly

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

      ClinGen hpoLookup monarchLookup HP:0001166 hpoLookup:individual individual:1 gene:NKAP
    59. megan_mayers 14 Jan 2020
      Camptodactyly

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

      ClinGen hpoLookup monarchLookup HP:0012385 hpoLookup:individual individual:1 gene:NKAP
    60. megan_mayers 14 Jan 2020
      Joint laxity

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

      ClinGen hpoLookup monarchLookup HP:0001388 hpoLookup:individual individual:1 gene:NKAP
    61. megan_mayers 14 Jan 2020
      Slender limbs

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

      ClinGen hpoLookup monarchLookup HP:0001533 hpoLookup:individual individual:1 gene:NKAP
    62. megan_mayers 14 Jan 2020
      Pectus

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

      ClinGen hpoLookup monarchLookup HP:0000768 hpoLookup:individual individual:1 gene:NKAP
    63. megan_mayers 14 Jan 2020
      Pectus

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

      ClinGen hpoLookup monarchLookup HP:0000767 hpoLookup:individual individual:1 gene:NKAP
    64. megan_mayers 14 Jan 2020
      Scoliosis

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

      ClinGen hpoLookup monarchLookup HP:0002650 hpoLookup:individual individual:1 gene:NKAP
    65. megan_mayers 14 Jan 2020
      Tall stature

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

      ClinGen hpoLookup monarchLookup HP:0000098 hpoLookup:individual individual:1 gene:NKAP
    66. megan_mayers 14 Jan 2020
      atrial septal defect

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

      ClinGen hpoLookup monarchLookup HP:0001631 hpoLookup:individual individual:1 gene:NKAP
    67. megan_mayers 14 Jan 2020
      large ears

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

      ClinGen hpoLookup monarchLookup HP:0000400 hpoLookup:individual individual:1 gene:NKAP
    68. megan_mayers 14 Jan 2020
      Open mouth appearance

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

      ClinGen hpoLookup monarchLookup HP:0000194 hpoLookup:individual individual:1 gene:NKAP
    69. megan_mayers 14 Jan 2020
      Short philtrum

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

      ClinGen hpoLookup monarchLookup HP:0000322 hpoLookup:individual individual:1 gene:NKAP
    70. megan_mayers 14 Jan 2020
      Long face

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

      ClinGen hpoLookup monarchLookup HP:0000276 hpoLookup:individual individual:1 gene:NKAP
    71. megan_mayers 14 Jan 2020
      Hypotonia

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

      ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:individual individual:1 gene:NKAP
    72. megan_mayers 14 Jan 2020
      intellectual disability

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

      ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:1 gene:NKAP
    73. megan_mayers 14 Jan 2020
      Developmental delay

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

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:1 gene:NKAP
    Visit annotations in context

    Tags

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    URL

    sciencedirect.com/science/article/pii/S0002929719303489
  6. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S000292971930432X
    30
    1. megan_mayers 17 Jan 2020
      Feeding difficulty

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011968

      ClinGen hpoLookup monarchLookup HP:0011968 hpoLookup:individual individual:2 gene:MN1
    2. megan_mayers 17 Jan 2020
      Hypotonia

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

      ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:individual individual:2 gene:MN1
    3. megan_mayers 17 Jan 2020
      Anteverted nares

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

      ClinGen hpoLookup monarchLookup HP:0000463 hpoLookup:individual individual:2 gene:MN1
    4. megan_mayers 17 Jan 2020
      Short nose

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

      ClinGen hpoLookup monarchLookup HP:0003196 hpoLookup:individual individual:2 gene:MN1
    5. megan_mayers 17 Jan 2020
      Depressed nasal ridge

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000457

      ClinGen hpoLookup monarchLookup HP:0000457 hpoLookup:individual individual:2 gene:MN1
    6. megan_mayers 17 Jan 2020
      Low-set ears

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

      ClinGen hpoLookup monarchLookup HP:0000369 hpoLookup:individual individual:2 gene:MN1
    7. megan_mayers 17 Jan 2020
      Widely spaced eyes

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

      ClinGen hpoLookup monarchLookup HP:0000316 hpoLookup:individual individual:2 gene:MN1
    8. megan_mayers 17 Jan 2020
      Thick eyebrow

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

      ClinGen hpoLookup monarchLookup HP:0000574 hpoLookup:individual individual:2 gene:MN1
    9. megan_mayers 17 Jan 2020
      Flat face

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

      ClinGen hpoLookup monarchLookup HP:0012368 hpoLookup:individual individual:2 gene:MN1
    10. megan_mayers 17 Jan 2020
      Prominent forehead

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011220

      ClinGen hpoLookup monarchLookup HP:0011220 hpoLookup:individual individual:2 gene:MN1
    11. megan_mayers 17 Jan 2020
      dolichocephaly

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

      ClinGen hpoLookup monarchLookup HP:0000268 hpoLookup:individual individual:2 gene:MN1
    12. megan_mayers 17 Jan 2020
      Speech impairment

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

      ClinGen hpoLookup monarchLookup HP:0002167 hpoLookup:individual individual:2 gene:MN1
    13. megan_mayers 17 Jan 2020
      Developmental delay

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

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:2 gene:MN1
    14. megan_mayers 15 Jan 2020
      Hyperphagia

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

      ClinGen hpoLookup monarchLookup HP:0002591 hpoLookup:individual individual:1 gene:MN1
    15. megan_mayers 15 Jan 2020
      Feeding difficulty

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011968

      ClinGen hpoLookup monarchLookup HP:0011968 hpoLookup:individual individual:1 gene:MN1
    16. megan_mayers 15 Jan 2020
      narrow palate

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000189

      ClinGen hpoLookup monarchLookup HP:0000189 hpoLookup:individual individual:1 gene:MN1
    17. megan_mayers 15 Jan 2020
      Anteverted nares

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

      ClinGen hpoLookup monarchLookup HP:0000463 hpoLookup:individual individual:1 gene:MN1
    18. megan_mayers 15 Jan 2020
      Short nose

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

      ClinGen hpoLookup monarchLookup HP:0003196 hpoLookup:individual individual:1 gene:MN1
    19. megan_mayers 15 Jan 2020
      Depressed nasal ridge

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000457

      ClinGen hpoLookup monarchLookup HP:0000457 hpoLookup:individual individual:1 gene:MN1
    20. megan_mayers 15 Jan 2020
      Depressed nasal bridg

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0005280

      ClinGen hpoLookup monarchLookup HP:0005280 hpoLookup:individual individual:1 gene:MN1
    21. megan_mayers 15 Jan 2020
      Low-set ears

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

      ClinGen hpoLookup monarchLookup HP:0000369 hpoLookup:individual individual:1 gene:MN1
    22. megan_mayers 15 Jan 2020
      Posteriorly rotated ears

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000358

      ClinGen hpoLookup monarchLookup HP:0000358 hpoLookup:individual individual:1 gene:MN1
    23. megan_mayers 15 Jan 2020
      Widely spaced eyes

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

      ClinGen hpoLookup monarchLookup HP:0000316 hpoLookup:individual individual:1 gene:MN1
    24. megan_mayers 15 Jan 2020
      High, arched eyebrow

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002553

      ClinGen hpoLookup monarchLookup HP:0002553 hpoLookup:individual individual:1 gene:MN1
    25. megan_mayers 15 Jan 2020
      Thick eyebrow

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

      ClinGen hpoLookup monarchLookup HP:0000574 hpoLookup:individual individual:1 gene:MN1
    26. megan_mayers 15 Jan 2020
      Flat face

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

      ClinGen hpoLookup monarchLookup HP:0012368 hpoLookup:individual individual:1 gene:MN1
    27. megan_mayers 15 Jan 2020
      Prominent forehead

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011220

      ClinGen hpoLookup monarchLookup HP:0011220 hpoLookup:individual individual:1 gene:MN1
    28. megan_mayers 15 Jan 2020
      dolichocephaly

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

      ClinGen hpoLookup monarchLookup HP:0000268 hpoLookup:individual individual:1 gene:MN1
    29. megan_mayers 15 Jan 2020
      Speech impairment

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

      ClinGen hpoLookup monarchLookup HP:0002167 hpoLookup:individual individual:1 gene:MN1
    30. megan_mayers 15 Jan 2020
      Developmental delay

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

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:1 gene:MN1
    Visit annotations in context

    Tags

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    URL

    sciencedirect.com/science/article/pii/S000292971930432X
  7. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0960896613009826?via%3Dihub
    1
    1. may_flowers 15 Jan 2020
      Gowers’ sign

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003391

      ClinGen hpoLookup monarchLookup HP:0003391 hpoLookup:individual individual:1 gene:SGCG
    Visit annotations in context

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    URL

    sciencedirect.com/science/article/pii/S0960896613009826
  8. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    An AAV-SGCG Dose-Response Study in a γ-Sarcoglycanopathy Mouse Model in the Context of Mechanical Stress
    2
    1. may_flowers 08 Jan 2020
      Blood

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0410211

      ClinGen hpoLookup monarchLookup HP:0410211 hpoLookup:individual individual:1 gene:SGCG
    2. may_flowers 08 Jan 2020
      fiber degeneration

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0100295

      ClinGen hpoLookup monarchLookup HP:0100295 hpoLookup:individual individual:1 gene:SGCG
    Visit annotations in context

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    ncbi.nlm.nih.gov/pmc/articles/PMC6545357/
  9. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301910
    68
    1. may_flowers 05 Jan 2020
      down-slanting eyelid

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0200006

      ClinGen hpoLookup monarchLookup HP:0200006 hpoLookup:individual individual:6 gene:TAOK1
    2. may_flowers 05 Jan 2020
      short proximal extremities

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0009815

      ClinGen hpoLookup monarchLookup HP:0009815 hpoLookup:individual individual:6 gene:TAOK1
    3. 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
    4. 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
    5. may_flowers 05 Jan 2020
      8

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001763

      ClinGen hpoLookup monarchLookup HP:0001763 hpoLookup:individual individual:8 gene:TAOK1
    6. may_flowers 05 Jan 2020
      5

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001763

      ClinGen hpoLookup monarchLookup HP:0001763 hpoLookup:individual individual:5 gene:TAOK1
    7. may_flowers 05 Jan 2020
      8

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001382

      ClinGen hpoLookup monarchLookup HP:0001382 hpoLookup:individual individual:8 gene:TAOK1
    8. may_flowers 05 Jan 2020
      5

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001382

      ClinGen hpoLookup monarchLookup HP:0001382 hpoLookup:individual individual:5 gene:TAOK1
    9. may_flowers 05 Jan 2020
      4

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002415

      ClinGen hpoLookup monarchLookup HP:0002415 hpoLookup:individual individual:4 gene:TAOK1
    10. may_flowers 05 Jan 2020
      6

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000175

      ClinGen hpoLookup monarchLookup HP:0000175 hpoLookup:individual individual:6 gene:TAOK1
    11. may_flowers 05 Jan 2020
      8

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

      ClinGen hpoLookup monarchLookup HP:0002705 hpoLookup:individual individual:8 gene:TAOK1
    12. may_flowers 05 Jan 2020
      5

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

      ClinGen hpoLookup monarchLookup HP:0002705 hpoLookup:individual individual:5 gene:TAOK1
    13. 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
    14. may_flowers 05 Jan 2020
      6

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

      ClinGen hpoLookup monarchLookup HP:0000369 hpoLookup:individual individual:6 gene:TAOK1
    15. may_flowers 05 Jan 2020
      5

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

      ClinGen hpoLookup monarchLookup HP:0000369 hpoLookup:individual individual:5 gene:TAOK1
    16. 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
    17. 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
    18. 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
    19. may_flowers 05 Jan 2020
      2

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0005280

      ClinGen hpoLookup monarchLookup HP:0005280 hpoLookup:individual individual:2 gene:TAOK1
    20. may_flowers 05 Jan 2020
      6

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

      ClinGen hpoLookup monarchLookup HP:0000316 hpoLookup:individual individual:6 gene:TAOK1
    21. may_flowers 05 Jan 2020
      8

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

      ClinGen hpoLookup monarchLookup HP:0000348 hpoLookup:individual individual:8 gene:TAOK1
    22. may_flowers 05 Jan 2020
      6

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

      ClinGen hpoLookup monarchLookup HP:0000348 hpoLookup:individual individual:6 gene:TAOK1
    23. may_flowers 05 Jan 2020
      5

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

      ClinGen hpoLookup monarchLookup HP:0000348 hpoLookup:individual individual:5 gene:TAOK1
    24. 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
    25. may_flowers 05 Jan 2020
      6

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002003

      ClinGen hpoLookup monarchLookup HP:0002003 hpoLookup:individual individual:6 gene:TAOK1
    26. may_flowers 05 Jan 2020
      2

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002003

      ClinGen hpoLookup monarchLookup HP:0002003 hpoLookup:individual individual:2 gene:TAOK1
    27. may_flowers 05 Jan 2020
      macrocephaly

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

      ClinGen hpoLookup monarchLookup HP:0000256 hpoLookup:individual individual:6 gene:TAOK1
    28. 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
    29. may_flowers 05 Jan 2020
      macrocephaly

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

      ClinGen hpoLookup monarchLookup HP:0000256 hpoLookup:individual individual:2 gene:TAOK1
    30. may_flowers 05 Jan 2020
      7

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000717

      ClinGen hpoLookup monarchLookup HP:0000717 hpoLookup:individual individual:7 gene:TAOK1
    31. may_flowers 05 Jan 2020
      2

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000717

      ClinGen hpoLookup monarchLookup HP:0000717 hpoLookup:individual individual:2 gene:TAOK1
    32. may_flowers 05 Jan 2020
      5

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000736

      ClinGen hpoLookup monarchLookup HP:0000736 hpoLookup:individual individual:5 gene:TAOK1
    33. may_flowers 05 Jan 2020
      1

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000736

      ClinGen hpoLookup monarchLookup HP:0000736 hpoLookup:individual individual:1 gene:TAOK1
    34. may_flowers 05 Jan 2020
      5

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

      ClinGen hpoLookup monarchLookup HP:0007018 hpoLookup:individual individual:5 gene:TAOK1
    35. may_flowers 05 Jan 2020
      1

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

      ClinGen hpoLookup monarchLookup HP:0007018 hpoLookup:individual individual:1 gene:TAOK1
    36. may_flowers 05 Jan 2020
      5

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001265

      ClinGen hpoLookup monarchLookup HP:0001265 hpoLookup:individual individual:5 gene:TAOK1
    37. may_flowers 05 Jan 2020
      1

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

      ClinGen hpoLookup monarchLookup HP:0000639 hpoLookup:individual individual:1 gene:TAOK1
    38. may_flowers 05 Jan 2020
      1

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000540

      ClinGen hpoLookup monarchLookup HP:0000540 hpoLookup:individual individual:1 gene:TAOK1
    39. may_flowers 05 Jan 2020
      1

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000505

      ClinGen hpoLookup monarchLookup HP:0000505 hpoLookup:individual individual:1 gene:TAOK1
    40. may_flowers 05 Jan 2020
      1

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000407

      ClinGen hpoLookup monarchLookup HP:0000407 hpoLookup:individual individual:1 gene:TAOK1
    41. may_flowers 05 Jan 2020
      muscular hypotonia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252

      ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:8 gene:TAOK1
    42. may_flowers 05 Jan 2020
      muscular hypotonia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252

      ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:7 gene:TAOK1
    43. may_flowers 05 Jan 2020
      muscular hypotonia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252

      ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:6 gene:TAOK1
    44. may_flowers 05 Jan 2020
      muscular hypotonia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252

      ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:5 gene:TAOK1
    45. may_flowers 05 Jan 2020
      muscular hypotonia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252

      ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:2 gene:TAOK1
    46. may_flowers 05 Jan 2020
      muscular hypotonia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252

      ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:1 gene:TAOK1
    47. may_flowers 05 Jan 2020
      seizures

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001250

      ClinGen hpoLookup monarchLookup HP:0001250 hpoLookup:individual individual:4 gene:TAOK1
    48. may_flowers 05 Jan 2020
      intellectual disability

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

      ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:7 gene:TAOK1
    49. may_flowers 05 Jan 2020
      intellectual disability

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

      ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:6 gene:TAOK1
    50. may_flowers 05 Jan 2020
      intellectual disability

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

      ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:4 gene:TAOK1
    51. 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
    52. may_flowers 05 Jan 2020
      motor development

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270

      ClinGen hpoLookup monarchLookup HP:0001270 hpoLookup:individual individual:8 gene:TAOK1
    53. may_flowers 05 Jan 2020
      motor development

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270

      ClinGen hpoLookup monarchLookup HP:0001270 hpoLookup:individual individual:7 gene:TAOK1
    54. may_flowers 05 Jan 2020
      motor development

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270

      ClinGen hpoLookup monarchLookup HP:0001270 hpoLookup:individual individual:6 gene:TAOK1
    55. may_flowers 05 Jan 2020
      motor development

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270

      ClinGen hpoLookup monarchLookup HP:0001270 hpoLookup:individual individual:5 gene:TAOK1
    56. may_flowers 05 Jan 2020
      motor development

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270

      ClinGen hpoLookup monarchLookup HP:0001270 hpoLookup:individual individual:2 gene:TAOK1
    57. may_flowers 05 Jan 2020
      motor development

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270

      ClinGen hpoLookup monarchLookup HP:0001270 hpoLookup:individual individual:1 gene:TAOK1
    58. may_flowers 05 Jan 2020
      speech and language development

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750

      ClinGen hpoLookup monarchLookup HP:0000750 hpoLookup:individual individual:8 gene:TAOK1
    59. may_flowers 05 Jan 2020
      speech and language development

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750

      ClinGen hpoLookup monarchLookup HP:0000750 hpoLookup:individual individual:7 gene:TAOK1
    60. may_flowers 05 Jan 2020
      speech and language development

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750

      ClinGen hpoLookup monarchLookup HP:0000750 hpoLookup:individual individual:6 gene:TAOK1
    61. may_flowers 05 Jan 2020
      speech and language development

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750

      ClinGen hpoLookup monarchLookup HP:0000750 hpoLookup:individual individual:2 gene:TAOK1
    62. may_flowers 05 Jan 2020
      speech and language development

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750

      ClinGen hpoLookup monarchLookup HP:0000750 hpoLookup:individual individual:1 gene:TAOK1
    63. may_flowers 05 Jan 2020
      developmental delay

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

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:7 gene:TAOK1
    64. may_flowers 05 Jan 2020
      developmental delay

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

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:6 gene:TAOK1
    65. may_flowers 05 Jan 2020
      developmental delay

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

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:4 gene:TAOK1
    66. 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
    67. may_flowers 05 Jan 2020
      developmental delay

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

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:2 gene:TAOK1
    68. may_flowers 05 Jan 2020
      developmental delay

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

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:1 gene:TAOK1
    Visit annotations in context

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    sciencedirect.com/science/article/pii/S0002929719301910
  10. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301636
    1
    1. may_flowers 05 Jan 2020
      primary infertility

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003251

      ClinGen hpoLookup monarchLookup HP:0003251 hpoLookup:individual individual:1 gene:DNAH17
    Visit annotations in context

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    sciencedirect.com/science/article/pii/S0002929719301636
  11. Dec 2019
  12. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719302411
    2
    1. megan_mayers 23 Dec 2019
      General hypotonia

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

      ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:individual individual:6 gene:POLR2A
    2. megan_mayers 23 Dec 2019
      General hypotonia

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

      ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:individual individual:1 gene:POLR2A
    Visit annotations in context

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    sciencedirect.com/science/article/pii/S0002929719302411
  13. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301983
    17
    1. may_flowers 20 Dec 2019
      acute respiratory failure

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002093

      ClinGen hpoLookup monarchLookup HP:0002093 hpoLookup:individual individual:1 gene:RINT1
    2. may_flowers 20 Dec 2019
      54.0 cm (99th percentile)

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003517

      ClinGen hpoLookup monarchLookup HP:0003517 hpoLookup:individual individual:2 gene:RINT1
    3. 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
    4. 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
    5. 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
    6. may_flowers 20 Dec 2019
      +

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003170

      ClinGen hpoLookup monarchLookup HP:0003170 hpoLookup:individual individual:2 gene:RINT1
    7. may_flowers 20 Dec 2019
      +

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003170

      ClinGen hpoLookup monarchLookup HP:0003170 hpoLookup:individual individual:1 gene:RINT1
    8. may_flowers 20 Dec 2019
      Platyspondyly

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000926

      ClinGen hpoLookup monarchLookup HP:0000926 hpoLookup:individual individual:1 gene:RINT1
    9. may_flowers 20 Dec 2019
      +

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001395

      ClinGen hpoLookup monarchLookup HP:0001395 hpoLookup:individual individual:1 gene:RINT1
    10. may_flowers 20 Dec 2019
      +

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001397

      ClinGen hpoLookup monarchLookup HP:0001397 hpoLookup:individual individual:2 gene:RINT1
    11. may_flowers 20 Dec 2019
      +

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001397

      ClinGen hpoLookup monarchLookup HP:0001397 hpoLookup:individual individual:1 gene:RINT1
    12. may_flowers 20 Dec 2019
      <3rd percentile

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004322

      ClinGen hpoLookup monarchLookup HP:0004322 hpoLookup:individual individual:2 gene:RINT1
    13. may_flowers 19 Dec 2019
      Splenomegaly

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0006268

      ClinGen hpoLookup monarchLookup HP:0006268 hpoLookup:individual individual:1 gene:RINT1
    14. may_flowers 19 Dec 2019
      <3rd percentile

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004322

      ClinGen hpoLookup monarchLookup HP:0004322 hpoLookup:individual individual:1 gene:RINT1
    15. may_flowers 19 Dec 2019
      elevated methionine

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003235

      ClinGen hpoLookup monarchLookup HP:0003235 hpoLookup:individual individual:1 gene:RINT1
    16. may_flowers 19 Dec 2019
      talipes equinovarus

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

      ClinGen hpoLookup monarchLookup HP:0001762 hpoLookup:individual individual:1 gene:RINT1
    17. may_flowers 19 Dec 2019
      Neonatal jaundice

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0006579

      ClinGen hpoLookup monarchLookup HP:0006579 hpoLookup:individual individual:1 gene:RINT1
    Visit annotations in context

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    sciencedirect.com/science/article/pii/S0002929719301983
  14. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301892
    3
    1. may_flowers 19 Dec 2019
      failure to thrive

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001508

      ClinGen hpoLookup monarchLookup HP:0001508 hpoLookup:individual individual:4 gene:NUP214
    2. 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
    3. 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
    Visit annotations in context

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    sciencedirect.com/science/article/pii/S0002929719301892