Genetic Diseases, X-Linked
| Definition: |
Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases. |
| Previously Indexed: |
Genetic Diseases, Inborn (1966-2002),Linkage (Genetics) (1984-2002),specific disease/Genetics (1984-2002) |
Genetic Diseases, X-Linked Categories.
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Glycogen Storage Disease Type VIII - An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon. |
Genetic Diseases, X-Linked Definitions and Terms
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