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obesity due to CEP19 deficiency

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description An autosomal recessive morbid obesity syndrome characterized by hypertension, fatty liver disease, insulin resistance, and decreased sperm counts. Variable clinical manifestations are early coronary artery disease with myocardial infarction before 45 years of age, type II diabetes mellitus, and intellectual disability. Morbid obese individuals are defined as having a BMI greater than 40.
Mondo Term and Equivalent IDs
MONDO:0014309:  obesity due to CEP19 deficiency
Orphanet:397615: 
UMLS:C3810324: