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: malignant colon neoplasm (MONDO:0021063)
Parent Node: sigmoid neoplasm (MONDO:0006971)
..Starting node ..sigmoid colon cancer ()
Child Nodes:
........rectosigmoid junction cancer ()
Sister Nodes:
..rectosigmoid junction neoplasm ()
..sigmoid colon cancer ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1464
Name:	sigmoid colon cancer
Definition:	A malignant neoplasm involving the sigmoid colon.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Ca sigmoid colon; cancer of sigmoid colon; malignant neoplasm of sigmoid colon; malignant sigmoid colon neoplasm; malignant tumor of sigmoid colon; sigmoid colon cancer
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal