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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: Hepatomegaly (D006529)
Parent Node: Nervous System Diseases (D009422)
Parent Node: Pigmentation Disorders (D010859)
Parent Node: Splenomegaly (D013163)
..Starting node ..Tang Hsi Ryu syndrome (C536897)
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:	10869
Name:	Tang Hsi Ryu syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D006529\|MESH:D009422\|MESH:D010859\|MESH:D013163
TreeNumbers:	C06.552.416/C536897 \|C10/C536897 \|C17.800.621/C536897 \|C23.300.775.525/C536897 \|C23.300.775.750/C536897
Synonyms:	Ascitis, splenomegaly, lymphadenopathy \|Polyneuropathy hepatosplenomegaly hyperpigmentation \|Syndrome of polyneuropathy, skin hyperpigmentation, oedema and hepatosplenomegaly
Slim Mappings:	Digestive system disease\|Nervous system disease\|Pathology (anatomical condition)\|Skin disease
Reference:	MedGen: C536897 MeSH: C536897 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants