Hypothesis

25 Matching Annotations

Nov 2019
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant

25
1. mjairath 19 Nov 2019
  
  in Public
  
  hypertrophy of slow fibres
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0100293
  
  ClinGen hpoLookup monarchLookup HP%3A0100293 hpoLookup:individual individual:1 gene:TNNT3
2. mjairath 19 Nov 2019
  
  in Public
  
  fibre degeneration
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0100295
  
  ClinGen hpoLookup monarchLookup HP:0100295 hpoLookup:individual individual:1 gene:TNNT3
3. mjairath 19 Nov 2019
  
  in Public
  
  interstitial fibrosis
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002206
  
  ClinGen hpoLookup monarchLookup HP:0002206 hpoLookup:individual individual:1 gene:TNNT3
4. mjairath 19 Nov 2019
  
  in Public
  
  hypertrophy of Type 1 (slow) fibres
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0100293
  
  ClinGen hpoLookup monarchLookup HP%3A0100293 hpoLookup:individual individual:1 gene:TNNT3
5. mjairath 19 Nov 2019
  
  in Public
  
  nemaline rods
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003798
  
  ClinGen hpoLookup monarchLookup HP:0003798 hpoLookup:individual individual:1 gene:TNNT3
6. mjairath 19 Nov 2019
  
  in Public
  
  selective and marked atrophy of Type 2 (fast) fibres
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003554
  
  ClinGen hpoLookup monarchLookup HP:0003554 hpoLookup:individual individual:1 gene:TNNT3
7. mjairath 19 Nov 2019
  
  in Public
  
  nasogastric tube feedin
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0040288
  
  ClinGen hpoLookup monarchLookup HP:0040288 hpoLookup:individual individual:1 gene:TNNT3
8. mjairath 19 Nov 2019
  
  in Public
  
  bulbar weakness
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001283
  
  ClinGen hpoLookup monarchLookup HP:0001283 hpoLookup:individual individual:1 gene:TNNT3
9. mjairath 19 Nov 2019
  
  in Public
  
  non-invasive ventilation
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0004887
  
  ClinGen hpoLookup monarchLookup HP%3A0004887 hpoLookup:individual individual:1 gene:TNNT3
10. mjairath 19 Nov 2019
  
  in Public
  
  respiratory muscle weakness
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002747
  
  ClinGen hpoLookup monarchLookup HP:0002747 hpoLookup:individual individual:1 gene:TNNT3
11. mjairath 19 Nov 2019
  
  in Public
  
  thoracic scoliosis
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002943
  
  ClinGen hpoLookup monarchLookup HP:0002943 hpoLookup:individual individual:1 gene:TNNT3
12. mjairath 19 Nov 2019
  
  in Public
  
  thoracic scoliosis
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002943
  
  ClinGen hpoLookup monarchLookup HP:0002943 hpoLookup:individual individual:1 gene:TNNT3
13. mjairath 19 Nov 2019
  
  in Public
  
  bilateral hip dislocation
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008780
  
  ClinGen hpoLookup monarchLookup HP:0008780 hpoLookup:individual individual:1 gene:TNNT3
14. mjairath 19 Nov 2019
  
  in Public
  
  finger contractures
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0005879
  
  ClinGen hpoLookup monarchLookup HP:0005879 hpoLookup:individual individual:1 gene:TNNT3
15. mjairath 19 Nov 2019
  
  in Public
  
  knee contractures
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0006380
  
  ClinGen hpoLookup monarchLookup HP:0006380 hpoLookup:individual individual:1 gene:TNNT3
16. mjairath 19 Nov 2019
  
  in Public
  
  high arched palate
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000218
  
  ClinGen hpoLookup monarchLookup HP:0000218 hpoLookup:individual individual:1 gene:TNNT3
17. mjairath 19 Nov 2019
  
  in Public
  
  hypotonia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252
  
  ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:1 gene:TNNT3
18. mjairath 19 Nov 2019
  
  in Public
  
  limb muscles
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0009028
  
  ClinGen hpoLookup monarchLookup HP:0009028 hpoLookup:individual individual:1 gene:TNNT3
19. mjairath 19 Nov 2019
  
  in Public
  
  weakness of facial
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0030319
  
  ClinGen hpoLookup monarchLookup HP:0030319 hpoLookup:individual individual:1 gene:TNNT3
20. mjairath 19 Nov 2019
  
  in Public
  
  rocker-bottom
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001838
  
  ClinGen hpoLookup monarchLookup HP:0001838 hpoLookup:individual individual:1 gene:TNNT3
21. mjairath 19 Nov 2019
  
  in Public
  
  bilateral talipes
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001776
  
  ClinGen hpoLookup monarchLookup HP:0001776 hpoLookup:individual individual:1 gene:TNNT3
22. mjairath 19 Nov 2019
  
  in Public
  
  overlapping digits
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0010557
  
  ClinGen hpoLookup monarchLookup HP:0010557 hpoLookup:individual individual:1 gene:TNNT3
23. mjairath 19 Nov 2019
  
  in Public
  
  overlapping digits
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001845
  
  ClinGen hpoLookup monarchLookup HP:0001845 hpoLookup:individual individual:1 gene:TNNT3
24. mjairath 19 Nov 2019
  
  in Public
  
  polyhydramnios
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001561
  
  ClinGen hpoLookup monarchLookup HP:0001561 hpoLookup:individual individual:1 gene:TNNT3
25. mjairath 19 Nov 2019
  
  in Public
  
  TNNT3
  
  ClinGen gene:TNNT3 pmid:29266598
Visit annotations in context

Tags

HP:0001252

HP:0002747

HP:0003554

monarchLookup

gene:TNNT3

ClinGen

HP:0003798

HP:0009028

HP:0040288

HP:0030319

HP:0100295

HP:0001845

HP:0005879

HP:0000218

HP%3A0004887

HP:0001283

HP:0001838

HP:0006380

individual:1

HP:0001776

HP:0002943

HP:0001561

HP%3A0100293

pmid:29266598

HP:0010557

HP:0002206

HP:0008780

hpoLookup:individual

hpoLookup

Annotators

mjairath

URL

ncbi.nlm.nih.gov/pmc/articles/PMC5805634/

Tags

Annotators

URL