916 results
Autosomal Dominant Inheritance
 - Most common mode of Mendelian inheritance 
 - Affected individual carries the
Autosomal Dominant Inheritance ... mode of Mendelian inheritance ... Autosomal #Dominant #Inheritance ... #Genetics
Metabolism of plasma lipoproteins and related genetic diseases - Familial Hypercholesterolemia
Type I (FAMILIAL HYPERCHYLOMICRONEMIA) 
Type IIA
lipoproteins and related genetic ... hypercholesterolemia #pathophysiology ... #lipoproteins #genetics
Causes of Dilated Cardiomyopathy DCMP - Differential Diagnosis Algorithm
Idiopathic DCMP: Viral, Inflammatory cardiomyopathy, Genetic causes, Unknown
cardiomyopathy, Genetic ... Mitochondrial inheritance
Harlequin Ichthyosis

Rare genetic disorder that results in thickened skin over nearly the entire surface of the
Ichthyosis Rare genetic ... physicalexam #pediatrics #genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... connections and pathophysiology ... MetabolicEmergency #Genetics ... #Pathophysiology
Congestive Heart Failure - Causes, Pathophysiology and Differential Diagnosis
 • Dilated Cardiomyopathy 
 • Hypertrophic Cardiomyopathy
Failure - Causes, Pathophysiology ... Infiltrative • Genetic ... HeartFailure #Causes #Pathophysiology
Genetics and Inheritance of the ABO System
The inheritance pattern of the ABO blood group exhibits codominance.
3
Genetics and Inheritance ... ABO System The inheritance ... #ABO #System #Genetics ... #Inheritance #hematology
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Table #NICU #Genetics
Melanoma Pathogenesis

Environmental exposure (UV light) + genetic susceptibility (CDKN2A, CDK4, MC1R, BRAF, p16/ARF genes) → accumulation
exposure (UV light) + genetic ... accumulation of genetic ... #Pathophysiology