lethal congenital glycogen storage disease of heart
glycogen storage disease characterized by autosomal dominant inheritance of glycogenosis confined to the heart, hypoglycemia and cyanosis that has material basis in heterozygous mutation in the PRKAG2 gene on chromosome 7q36
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lethal congenital glycogen storage disease of heart
Summary
lethal congenital glycogen storage disease of heart is a rare disease[1].
Key Facts
- lethal congenital glycogen storage disease of heart's instance of is recorded as rare disease[2].
- lethal congenital glycogen storage disease of heart's instance of is recorded as class of disease[3].
- lethal congenital glycogen storage disease of heart is a type of glycogen storage disease[4].
- lethal congenital glycogen storage disease of heart is a type of hypertrophic cardiomyopathy[5].
- lethal congenital glycogen storage disease of heart is a type of glycogen storage disease with hypertrophic cardiomyopathy[6].
- lethal congenital glycogen storage disease of heart is a type of genetic disease[7].
- lethal congenital glycogen storage disease of heart's health specialty is recorded as neurology[8].
- lethal congenital glycogen storage disease of heart's genetic association is recorded as PRKAG2[9].
- lethal congenital glycogen storage disease of heart's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0090101[10].
- lethal congenital glycogen storage disease of heart's exact match is recorded as http://identifiers.org/doid/DOID:0090101[11].
- lethal congenital glycogen storage disease of heart's on focus list of Wikimedia project is recorded as WikiProject Medicine[12].