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

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002487

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

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000565

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002181

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0025330

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0100703

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008936

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

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

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

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

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

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

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

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002133

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002902

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001272

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001336

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

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

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000253

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002376

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

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001336

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001298

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002902

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001272

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000253

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002376

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

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

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

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

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

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

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

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

Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0100293

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

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002206

Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0100293

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003798

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003554

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0040288

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001283

Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0004887

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002747

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002943

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002943

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008780

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0005879

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0006380

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

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

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0009028

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0030319

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001838

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001776

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0010557

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001845

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

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

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

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

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

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

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

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

allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA346764646

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

allele id lookup result

variant id lookup result

variant id lookup result

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

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0031936

variant id lookup result

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0000271

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002360

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000708

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

PMID: 25393254

Gene: PROC

Disease: Thrombophilia due to protein C deficiency

MonDO: 0012860

InheritancePattern: Autosomal Recessive

ClinGen Gene-Disease Validity Standard operating Procedures Version 7 was released on August 12, 2019.

To see Hypothes.is annotated notes on the SOP, click the hyperlink on the webpage titled "Gene-Disease Validity Standard Operating Procedures, Version 7"

Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA

Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA

Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA

Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA

Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA

Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA

Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA

Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA

Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA

Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA

Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276694/

Monarch lookup result: https://monarchinitiative.org/disease/MONDO:0005635

PMID: 28132690

Gene: EXTL3

Disease: Neuro-immuno-skeletal Dysplasia Syndrome

MonDO: 0010668

Inheritance Pattern: autosomal-recessive (maybe, check me on this, found 1st paragraph of results, but was unclear)

ClinVar variant ID lookup result https://www.ncbi.nlm.nih.gov/clinvar/variation/156152/

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000121

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001947

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004912

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

Monarch lookup result: https://monarchinitiative.org/disease/MONDO:0009297

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000124

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001943

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0005949

ClinVar variant ID lookup result https://www.ncbi.nlm.nih.gov/clinvar/variation/156152/

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002448

ClinVar variant ID lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/427942/

ClinVar variant ID lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/427941/

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0007375

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012448

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012448

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012448

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002079

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0006532

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002104

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

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000648

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

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002191

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001007

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001999

Mseqdr lookup result: https://mseqdr.org/hpo_browser.php?11968;

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003808

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008936

ClinVar variant ID lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/427942/

ClinVar variant ID lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/427941/

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008386

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000646

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

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000545

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001647

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002017

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002017

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003307

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002013

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002020

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

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000154

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

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000368

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

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000739

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000739

Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0010865

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