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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: Hypersplenism (D006971)
Parent Node: Splenomegaly (D013163)
..Starting node ..Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T-Helper Cells (C566666)
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:

10543

Name:

Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T-Helper Cells

Definition:

Alternative IDs:

ParentIDs:

MESH:D006971|MESH:D013163

TreeNumbers:

C15.604.744.293/C566666 |C23.300.775.750/C566666

Synonyms:

Slim Mappings:

Lymphatic disease|Pathology (anatomical condition)

Reference:

MedGen: C566666
MeSH: C566666
OMIM: 183350;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002965	Cutaneous anergy
3	HP:0008165	Decreased helper T cell proportion
4	HP:0001971	Hypersplenism
5	HP:0001876	Pancytopenia
6	HP:0001744	Splenomegaly

Disease Causing ClinVar Variants