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: disease by anatomical system (MONDO:0021199)
..Starting node ..cardiovascular disease ()
Child Nodes:
........altitude sickness ()
........autoimmune disease of cardiovascular system ()
........cardiovascular neoplasm ()
........congenital anomaly of cardiovascular system ()
........epistaxis ()
........fibromuscular dysplasia ()
........heart disease ()
........hypotension (disease) ()
........ischemia reperfusion injury ()
........pericardium disease ()
........vascular disease ()
Sister Nodes:
..cardiovascular disease ()
..digestive system disease ()
..disease of genitourinary system ()
..endocrine system disease ()
..hematologic disease ()
..immune system disease ()
..integumentary system disease ()
..mediastinal disease ()
..musculoskeletal system disease ()
..nervous system disorder ()
..respiratory system disease ()
..sensory system disease ()
..urinary system disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	4995
Name:	cardiovascular disease
Definition:	A disease involving the cardiovascular system.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	cardiovascular disease; cardiovascular disease (CVD); cardiovascular disorder; cardiovascular system disease; cardiovascular system disease or disorder; circulatory system disease; disease of cardiovascular system; disease of subdivision of hemolymphoid system; disease or disorder of cardiovascular
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal