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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: Thrombocytosis (D013922)
..Starting node ..Thrombocytosis, Familial X-Linked (C564532)
Child Nodes:
Sister Nodes:
..Thrombocythemia, Essential (D013920)
..THROMBOCYTHEMIA, X-LINKED (OMIM:300331)
..Thrombocytosis, Benign Familial Microcytic (C566596)
..Thrombocytosis, Familial X-Linked (C564532)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11006

Name:

Thrombocytosis, Familial X-Linked

Definition:

Alternative IDs:

ParentIDs:

MESH:D013922|MESH:D040181

TreeNumbers:

C15.378.140.860/C564532 |C15.378.190.636.860/C564532 |C16.320.322/C564532

Synonyms:

Slim Mappings:

Blood disease|Genetic disease (inborn)

Reference:

MedGen: C564532
MeSH: C564532
OMIM: 300331;

Genes:

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0002240	Hepatomegaly
3	HP:0001744	Splenomegaly
4	HP:0001894	Thrombocytosis

Disease Causing ClinVar Variants