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: adenocarcinoma (MONDO:0004970)
Parent Node: colorectal carcinoma (MONDO:0024331)
..Starting node ..colorectal adenocarcinoma ()
Child Nodes:
........colon adenocarcinoma ()
........colorectal serrated adenocarcinoma ()
........colorectal signet ring cell carcinoma ()
........rectum adenocarcinoma ()
Sister Nodes:
..colon carcinoma ()
..colorectal adenocarcinoma ()
..colorectal squamous cell carcinoma ()
..rectal carcinoma ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	5008
Name:	colorectal adenocarcinoma
Definition:	The most common type of colorectal carcinoma. It is characterized by the presence of malignant glandular epithelial cells invading through the muscularis mucosa into the submucosa. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	adenocarcinoma of large bowel; adenocarcinoma of large intestine; adenocarcinoma of the large bowel; adenocarcinoma of the large intestine; colorectal (colon or rectal) adenocarcinoma; colorectal adenocarcinoma; colorectum adenocarcinoma; large bowel adenocarcinoma; large intestine adenocarcinoma
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal