PheMA Test Group

Autoimmune Disease Phenotype

Autoimmune diseases (AID) refer to destructive conditions involving an aberrant chronic activation of the adaptive immune system, where the immune cells instead of producing antibodies to attack foreign invaders, mistakenly attack the body’s own healthy cells.  While autoimmune diseases are heterogeneous according to symptoms, lesion types, and prognosis, and are usually studied in isolation according to groups based on organ system; various autoimmunity diseases share similar immune effector mechanisms.  Recent genetic studies suggest that many autoimmune and chronic autoinflammatory condi

Owner Phenotyping Groups: 
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Breast Cancer

Chronic Kidney Disease

Chronic kidney disease (CKD) is defined as an abnormality of kidney structure or function present for longer than 3 months. CKD can occur as a result of heterogeneous disorders affecting the kidney. In the United States, an estimated 13.6% of adults have CKD. Notably, adjusted mortality rates are higher for patients with CKD than those without, and rates increase with CKD stage. The purpose of this algorithm is to enable accurate CKD diagnosis and staging based on EHR data.

Owner Phenotyping Groups: 
Final

PhEMA BPH (Benign Prostatic Hyperplasia) cases

This is PhEMA (Phenotype Execution Modeling Architecture, projectphema.org)'s implementation of the following BPH (Benign Prostatic Hyperplasia) case algorithm from the following BPH case and control algorithm on PheKB:

https://phekb.org/phenotype/benign-prostatic-hyperplasia-bph

Artifacts for this phenotype, inc. an HQMF representation, a KNIME workflow that can run against an i2b2 instance, and a snapshot of the PhAT graphical representation, are posted on GitHub:

Final