MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

Hello! Guest! Please Login or Register! Clinician Mode

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: chronic pulmonary heart disease (MONDO:0001493)
..Starting node ..primary pulmonary hypertension ()
Child Nodes:
........idiopathic and/or familial pulmonary arterial hypertension ()
Sister Nodes:
..kyphoscoliotic heart disease ()
..primary pulmonary hypertension ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1999
Name:	primary pulmonary hypertension
Definition:	Increased blood pressure in the arteries of the lungs; the etiology is unknown.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	pulmonary hypertension, primary
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal