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: Hypertension (D006973)
Parent Node: Microphthalmos (D008850)
Parent Node: Tachycardia (D013610)
..Starting node ..Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria (C566880)
Child Nodes:
Sister Nodes:
..Atrial Tachyarrhythmia with Short PR Interval (C566237)
..Bidirectional tachycardia (C535438)
..Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria (C566880)
..Tachycardia, Paroxysmal (D013614) 1
..Tachycardia, Reciprocating (D054139) 2
..Tachycardia, Supraventricular (D013617) 3
..Tachycardia, Ventricular (D017180) 7
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10854
Name:	Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria
Definition:
Alternative IDs:
ParentIDs:	MESH:D006973\|MESH:D008850\|MESH:D013610
TreeNumbers:	C11.250.566/C566880 \|C14.280.067.845/C566880 \|C14.907.489/C566880 \|C16.131.384.666/C566880 \|C23.550.073.845/C566880
Synonyms:
Slim Mappings:	Cardiovascular disease\|Congenital abnormality\|Eye disease\|Pathology (process)
Reference:	MedGen: C566880 MeSH: C566880 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants