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: benign neoplasm of rectum (MONDO:0021462)
Parent Node: colorectal lipoma (MONDO:0003885)
..Starting node ..lipoma of the rectum ()
Child Nodes:
Sister Nodes:
..lipoma of colon ()
..lipoma of the rectum ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	3884
Name:	lipoma of the rectum
Definition:	A benign adipose tissue neoplasm of the rectum.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	lipoma of rectum; rectal lipoma; rectum lipoma
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal