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: small intestine carcinoma (MONDO:0005522)
..Starting node ..small intestine adenocarcinoma ()
Child Nodes:
........duodenal adenocarcinoma ()
........jejunal adenocarcinoma (disease) ()
Sister Nodes:
..carcinoma of duodenum ()
..small intestine adenocarcinoma ()
..squamous cell carcinoma of the small intestine ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	3198
Name:	small intestine adenocarcinoma
Definition:	An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	adenocarcinoma - small intest.; adenocarcinoma of small bowel; adenocarcinoma of small instestine; adenocarcinoma of small intestine; adenocarcinoma of the small bowel; adenocarcinoma of the small instestine; adenocarcinoma of the small intestine; small bowel adenocarcinoma; small intestinal adenoca
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: DSPP;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal