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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: Cerebellar Diseases (D002526)
Parent Node: Hepatomegaly (D006529)
Parent Node: Ichthyosis (D007057)
Parent Node: Splenomegaly (D013163)
..Starting node ..Dykes Markes Harper syndrome (C535727)
Child Nodes:
Sister Nodes:
..Banti's syndrome (C537903)
..Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly (C563840)
..Dykes Markes Harper syndrome (C535727)
..Myeloid splenomegaly (C536094)
..Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T-Helper Cells (C566666)
..Tang Hsi Ryu syndrome (C536897)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	3498
Name:	Dykes Markes Harper syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D002526\|MESH:D006529\|MESH:D007057\|MESH:D013163
TreeNumbers:	C06.552.416/C535727 \|C10.228.140.252/C535727 \|C16.131.831.512/C535727 \|C16.614.492/C535727 \|C17.800.428.333/C535727 \|C17.800.804.512/C535727 \|C23.300.775.525/C535727 \|C23.300.775.750/C535727
Synonyms:	Ichthyosis, hepatosplenomegaly, and cerebellar degeneration \|Ichthyosis hepatosplenomegaly cerebellar degeneration
Slim Mappings:	Congenital abnormality\|Digestive system disease\|Infant-newborn disease\|Nervous system disease\|Pathology (anatomical condition)\|Skin disease
Reference:	MedGen: C535727 MeSH: C535727 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants