Disease browser and phenotype portal

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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: Retinal Diseases (D012164)
Parent Node: Vascular Diseases (D014652)
Parent Node: Venous Thrombosis (D020246)
..Starting node ..Retinal Vein Occlusion (D012170)
Child Nodes:
Sister Nodes:
..Budd-Chiari Syndrome (D006502) 1
..Postthrombotic Syndrome (D054070)
..Retinal Vein Occlusion (D012170)
..Thrombophlebitis (D013924) 1
..Upper Extremity Deep Vein Thrombosis (D056824)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9734
Name:	Retinal Vein Occlusion
Definition:	Blockage of the RETINAL VEIN. Those at high risk for this condition include patients with HYPERTENSION; DIABETES MELLITUS; ATHEROSCLEROSIS; and other CARDIOVASCULAR DISEASES.
Alternative IDs:
ParentIDs:	MESH:D012164\|MESH:D014652\|MESH:D020246
TreeNumbers:	C11.768.760 \|C14.907.355.830.925.650 \|C14.907.760
Synonyms:	Occlusion, Retinal Vein \|Occlusions, Retinal Vein \|Retinal Vein Occlusions \|Retinal Vein Thromboses \|Retinal Vein Thrombosis \|Thromboses, Retinal Vein \|Thrombosis, Retinal Vein \|Vein Occlusion, Retinal \|Vein Occlusions, Retinal \|Vein Thromboses, Retinal \|Vein Thro
Slim Mappings:	Cardiovascular disease\|Eye disease
Reference:	MedGen: D012170 MeSH: D012170 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants