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

      variant id lookup result: http://localhost:8001/test.html

      ClinGen variantLookup variant:426075 variantLookup:individual individual:1 gene:TMEM260
    2. 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
    1
    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
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    sciencedirect.com/science/article/pii/S0960896613009826
  5. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S000292971930432X
    18
    1. 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
    2. 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
    3. 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
    4. 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
    5. 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
    6. 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
    7. 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
    8. 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
    9. 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
    10. 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
    11. 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
    12. 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
    13. 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
    14. 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
    15. 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
    16. 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
    17. 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
    18. megan_mayers 15 Jan 2020

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/72912/

      ClinGen variantLookup variant:72912 variantLookup:individual individual:1 gene:MN1
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    sciencedirect.com/science/article/pii/S000292971930432X
  6. 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
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    sciencedirect.com/science/article/pii/S0960896613009826
  7. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719303489
    17
    1. megan_mayers 14 Jan 2020

      allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA414193321

      ClinGen alleleLookup allele:CA414193321 alleleLookup:individual individual:1 gene:NKAP
    2. 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
    3. 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
    4. 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
    5. 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
    6. 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
    7. 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
    8. 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
    9. 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
    10. 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
    11. 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
    12. 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
    13. 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
    14. 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
    15. 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
    16. 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
    17. 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
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    sciencedirect.com/science/article/pii/S0002929719303489
  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
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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
    11
    1. may_flowers 06 Jan 2020

      allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399185143

      ClinGen alleleLookup allele:CA399185143 alleleLookup:individual individual:1 gene:TAOK1
    2. 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
    3. 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
    4. 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
    5. 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
    6. 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
    7. 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
    8. 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
    9. 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
    10. 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
    11. 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
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    sciencedirect.com/science/article/pii/S0002929719301910
  10. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/
    1
    1. may_flowers 05 Jan 2020

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/

      ClinGen variantLookup variant:692266 variantLookup:individual individual:1 gene:DNAH17
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    ncbi.nlm.nih.gov/clinvar/variation/692266/
  11. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301636
    3
    1. may_flowers 05 Jan 2020

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692268/

      ClinGen variantLookup variant:692268 variantLookup:individual individual:1 gene:DNAH17
    2. may_flowers 05 Jan 2020

      allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA8805224

      ClinGen alleleLookup allele:CA8805224 alleleLookup:individual individual:1 gene:DNAH17
    3. 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
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    sciencedirect.com/science/article/pii/S0002929719301636
  12. Dec 2019
  13. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719302411
    1
    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:1 gene:POLR2A
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    sciencedirect.com/science/article/pii/S0002929719302411
  14. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301983
    12
    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
      +

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

      ClinGen hpoLookup monarchLookup HP:0003170 hpoLookup:individual individual:1 gene:RINT1
    3. 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
    4. 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
    5. 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
    6. 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
    7. 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
    8. 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
    9. 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
    10. 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
    11. 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
    12. 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
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    sciencedirect.com/science/article/pii/S0002929719301983
  15. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301892
    7
    1. may_flowers 16 Dec 2019
      appendicular spasticity

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001257

      ClinGen hpoLookup monarchLookup HP:0001257 hpoLookup:individual individual:1 gene:NUP214
    2. may_flowers 16 Dec 2019
      could not verbalize

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002300

      ClinGen hpoLookup monarchLookup HP:0002300 hpoLookup:individual individual:1 gene:NUP214
    3. may_flowers 16 Dec 2019
      lost voluntary mobility

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003470

      ClinGen hpoLookup monarchLookup HP:0003470 hpoLookup:individual individual:1 gene:NUP214
    4. may_flowers 16 Dec 2019
      bilateral nonsynchronous spikes

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002353

      ClinGen hpoLookup monarchLookup HP:0002353 hpoLookup:individual individual:1 gene:NUP214
    5. may_flowers 16 Dec 2019
      short non-provoked generalized tonic-clonic seizures

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002069

      ClinGen hpoLookup monarchLookup HP:0002069 hpoLookup:individual individual:1 gene:NUP214
    6. may_flowers 16 Dec 2019
      intractable epilepsy

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

      ClinGen hpoLookup monarchLookup HP:0001250 hpoLookup:individual individual:1 gene:NUP214
    7. may_flowers 16 Dec 2019
      ataxia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001251

      ClinGen hpoLookup monarchLookup HP:0001251 hpoLookup:individual individual:1 gene:NUP214
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    sciencedirect.com/science/article/pii/S0002929719301892
  16. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6376703/
    2
    1. may_flowers 16 Dec 2019
      atrophy

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0003202

      ClinGen hpoLookup monarchLookup HP%3A0003202 hpoLookup:individual individual:1 gene:SGCA
    2. may_flowers 16 Dec 2019
      progressive muscle weakness

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003323

      ClinGen hpoLookup monarchLookup HP:0003323 hpoLookup:individual individual:1 gene:SGCA
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    ncbi.nlm.nih.gov/pmc/articles/PMC6376703/
  17. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719302733?via%3Dihub
    3
    1. cthaxton 05 Dec 2019
      Small head circumference

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

      ClinGen hpoLookup monarchLookup HP:0000252 hpoLookup:individual individual:1 gene:DDX6
    2. cthaxton 05 Dec 2019
      Speech delay

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

      ClinGen hpoLookup monarchLookup HP:0000750 hpoLookup:individual individual:1 gene:DDX6
    3. cthaxton 05 Dec 2019
      ID

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

      ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:1 gene:DDX6
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    sciencedirect.com/science/article/pii/S0002929719302733
  18. Nov 2019
  19. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant
    24
    1. mjairath 19 Nov 2019
      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
      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
      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
      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
      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
      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
      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
      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
      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
      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
      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
      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
      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
      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
      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
      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
      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
      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
      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
      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
      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
      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
      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
      polyhydramnios

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001561

      ClinGen hpoLookup monarchLookup HP:0001561 hpoLookup:individual individual:1 gene:TNNT3
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    ncbi.nlm.nih.gov/pmc/articles/PMC5805634/
  20. Oct 2019
  21. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3007158/
    4
    1. may_flowers 07 Oct 2019
      aminoaciduria

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003355

      ClinGen hpoLookup monarchLookup HP:0003355 hpoLookup:individual individual:1 gene:SLC1A1
    2. may_flowers 07 Oct 2019
      aspartate level

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0010899

      ClinGen hpoLookup monarchLookup HP:0010899 hpoLookup:individual individual:1 gene:SLC1A1
    3. may_flowers 07 Oct 2019
      obsessive-compulsive trait

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008770

      ClinGen hpoLookup monarchLookup HP:0008770 hpoLookup:individual individual:1 gene:SLC1A1
    4. may_flowers 07 Oct 2019
      kidney stones

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000787

      ClinGen hpoLookup monarchLookup HP:0000787 hpoLookup:individual individual:1 gene:SLC1A1
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    ncbi.nlm.nih.gov/pmc/articles/PMC3007158/
  22. 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

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/559601/

      ClinGen variantLookup variant:559601 variantLookup:individual individual:1 gene:FBXO11
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    ncbi.nlm.nih.gov/pmc/articles/PMC6080769/
  23. reg.clinicalgenome.org reg.clinicalgenome.org
    https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA346813374
    1
    1. cthaxton 01 Oct 2019

      allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA346813374

      ClinGen alleleLookup allele:CA346813374 alleleLookup:individual individual:1 gene:FBXO11
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    reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid
  24. Sep 2019
  25. 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
    19
    1. cthaxton 11 Sep 2019

      variant id lookup result

      ClinGen variantLookup variant:559600 variantLookup:individual individual:1 gene:FBXO11
    2. cthaxton 11 Sep 2019
      constipation

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002019

      ClinGen hpoLookup monarchLookup HP:0002019 hpoLookup:individual individual:1 gene:FBXO11
    3. cthaxton 11 Sep 2019
      hairy elbows

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004780

      ClinGen hpoLookup monarchLookup HP:0004780 hpoLookup:individual individual:1 gene:FBXO11
    4. cthaxton 11 Sep 2019
      strabismus

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000486

      ClinGen hpoLookup monarchLookup HP:0000486 hpoLookup:individual individual:1 gene:FBXO11
    5. cthaxton 11 Sep 2019
      joint laxity

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

      ClinGen hpoLookup monarchLookup HP:0001388 hpoLookup:individual individual:1 gene:FBXO11
    6. cthaxton 11 Sep 2019
      fetal fingerpads

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001212

      ClinGen hpoLookup monarchLookup HP:0001212 hpoLookup:individual individual:1 gene:FBXO11
    7. cthaxton 11 Sep 2019
      mild hypertelorism

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

      ClinGen hpoLookup monarchLookup HP:0000316 hpoLookup:individual individual:1 gene:FBXO11
    8. cthaxton 11 Sep 2019
      long eyelashes

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000527

      ClinGen hpoLookup monarchLookup HP:0000527 hpoLookup:individual individual:1 gene:FBXO11
    9. cthaxton 11 Sep 2019
      mild exophthalmos

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0000520

      ClinGen hpoLookup monarchLookup HP%3A0000520 hpoLookup:individual individual:1 gene:FBXO11
    10. cthaxton 11 Sep 2019
      broad forehead

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000337

      ClinGen hpoLookup monarchLookup HP:0000337 hpoLookup:individual individual:1 gene:FBXO11
    11. cthaxton 11 Sep 2019
      triangular face

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000325

      ClinGen hpoLookup monarchLookup HP:0000325 hpoLookup:individual individual:1 gene:FBXO11
    12. cthaxton 11 Sep 2019
      aggressivity

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

      ClinGen hpoLookup monarchLookup HP:0000718 hpoLookup:individual individual:1 gene:FBXO11
    13. cthaxton 11 Sep 2019
      no eye contact,

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000817

      ClinGen hpoLookup monarchLookup HP:0000817 hpoLookup:individual individual:1 gene:FBXO11
    14. cthaxton 11 Sep 2019
      social interaction

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012760

      ClinGen hpoLookup monarchLookup HP:0012760 hpoLookup:individual individual:1 gene:FBXO11
    15. cthaxton 11 Sep 2019
      autistic

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000729

      ClinGen hpoLookup monarchLookup HP:0000729 hpoLookup:individual individual:1 gene:FBXO11
    16. cthaxton 11 Sep 2019
      yes

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

      ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:individual individual:1 gene:FBXO11
    17. cthaxton 11 Sep 2019
      severe

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0011344

      ClinGen hpoLookup monarchLookup HP%3A0011344 hpoLookup:individual individual:1 gene:FBXO11
    18. cthaxton 11 Sep 2019
      no speech

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001344

      ClinGen hpoLookup monarchLookup HP:0001344 hpoLookup:individual individual:1 gene:FBXO11
    19. cthaxton 11 Sep 2019
      122 cm (−2.7)

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0000002

      ClinGen hpoLookup monarchLookup HP%3A0000002 hpoLookup:individual individual:1 gene:FBXO11
    Visit annotations in context

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    URL

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