MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation 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

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: essential hypertension (MONDO:0001134)
Parent Node: malignant hypertension (MONDO:0006846)
..Starting node ..malignant essential hypertension ()
Child Nodes:
Sister Nodes:
..malignant essential hypertension ()
..malignant hypertensive renal disease ()
..malignant secondary hypertension ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1133
Name:	malignant essential hypertension
Definition:	Essential hypertension with rapid progression to severe high blood pressure, papilledema, and renal failure.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	accelerated essential hypertension; malignant essential hypertension
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal