Hypothesis

5 Matching Annotations

Dec 2019
www.sciencedirect.com www.sciencedirect.com

https://www.sciencedirect.com/science/article/pii/S0002929719301983

1
1. may_flowers 20 Dec 2019
  
  in Public
  
  Platyspondyly
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000926
  
  ClinGen hpoLookup monarchLookup HP:0000926 hpoLookup:individual individual:1 gene:RINT1
Visit annotations in context

Tags

monarchLookup

gene:RINT1

HP:0000926

ClinGen

individual:1

hpoLookup:individual

hpoLookup

Annotators

may_flowers

URL

sciencedirect.com/science/article/pii/S0002929719301983
Aug 2019
www.cell.com www.cell.com

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

4
1. megan_mayers 12 Aug 2019
  
  in Public
  
  platyspondyly
  
  Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA
  
  ClinGen hpoLookup monarchLookup HP:0000926 phenotype:family family:5 gene:EXTL3
2. megan_mayers 12 Aug 2019
  
  in Public
  
  platyspondyly
  
  Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA
  
  ClinGen hpoLookup monarchLookup HP:0000926 phenotype:family family:4 gene:EXTL3
3. megan_mayers 12 Aug 2019
  
  in Public
  
  platyspondyly
  
  Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA
  
  ClinGen hpoLookup monarchLookup HP:0000926 phenotype:family family:3 gene:EXTL3
4. megan_mayers 12 Aug 2019
  
  in Public
  
  platyspondyly
  
  Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA
  
  ClinGen hpoLookup monarchLookup HP:0000926 phenotype:family family:1 gene:EXTL3
Visit annotations in context

Tags

monarchLookup

ClinGen

family:5

family:3

gene:EXTL3

family:1

HP:0000926

phenotype:family

family:4

hpoLookup

Annotators

megan_mayers

URL

cell.com/ajhg/fulltext/S0002-9297(17)30013-7