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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Glycogen Storage Disease (D006008)
..Starting node ..Glycogen Storage Disease Type VIII (D006015)
Child Nodes:
Sister Nodes:
..Glycogen Storage Disease 0, Liver (C565485)
..Glycogen Storage Disease 0, Muscle (C566917)
..Glycogen Storage Disease IC (C562805)
..GLYCOGEN STORAGE DISEASE IXa1 (OMIM:306000)
..Glycogen Storage Disease IXB (C563008)
..Glycogen Storage Disease IXC (C567809)
..Glycogen Storage Disease of Heart, Lethal Congenital (C564888)
..Glycogen Storage Disease Type I (D005953) 4
..Glycogen Storage Disease Type II (D006009) 1
..Glycogen Storage Disease Type IIb (D052120)
..Glycogen Storage Disease Type III (D006010) 4
..Glycogen Storage Disease Type IV (D006011) 7
..Glycogen Storage Disease Type Ix (C580130)
..Glycogen Storage Disease Type V (D006012)
..Glycogen Storage Disease Type VI (D006013)
..Glycogen Storage Disease Type VII (D006014)
..Glycogen Storage Disease Type VIII (D006015)
..Glycogen Storage Disease XII (C562718)
..Glycogen Storage Disease XIII (C567861)
..Glycogen Storage Disease XIV (C567859)
..GLYCOGEN STORAGE DISEASE XV (OMIM:613507)
..Glycogen Storage Disease, Type IXA2 (C567579)
..Glycogen Storage Disease, Type IXD (C564485)
..Lactate dehydrogenase deficiency type A (C538133)
..Liver Glycogenosis, X-Linked, Type II (C564421)
..Polyglucosan Body Disease, Adult Form (C564878)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	4728
Name:	Glycogen Storage Disease Type VIII
Definition:	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.
Alternative IDs:
ParentIDs:	MESH:D006008\|MESH:D040181
TreeNumbers:	C16.320.322.217 \|C16.320.565.202.449.620 \|C18.452.648.202.449.620
Synonyms:	Glycogenosis 8
Slim Mappings:	Genetic disease (inborn)\|Metabolic disease
Reference:	MedGen: D006015 MeSH: D006015 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants