37 Matching Annotations
  1. Dec 2019
  2. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301983
    37
    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
      coagulopathy

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

      ClinGen hpoLookup monarchLookup HP:0003256 hpoLookup:group group:1 gene:RINT1
    3. 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
    4. 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
    5. 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
    6. 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
    7. 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
    8. 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
    9. 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
    10. 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
    11. 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
    12. 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
    13. 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
    14. 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
    15. may_flowers 19 Dec 2019

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/547946/

      ClinGen variantLookup variant:547946 variantLookup:individual individual:1 gene:RINT1
    16. may_flowers 19 Dec 2019

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692227/

      ClinGen variantLookup variant:692227 variantLookup:individual individual:2 gene:RINT1
    17. 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:1 gene:RINT1
    18. 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
    19. 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
    20. may_flowers 19 Dec 2019

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692228/

      ClinGen variantLookup variant:692228 variantLookup:individual individual:2 gene:RINT1
    21. 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
    22. 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
    23. 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
    24. 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
    25. 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
    26. 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
    27. 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
    28. 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
    29. 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
    30. 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
    31. 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
    32. 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
    33. 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
    34. 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
    35. 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
    36. 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
    37. may_flowers 19 Dec 2019
      RINT1
      ClinGen gene:RINT1 pmid:undefined
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S0002929719301983