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: intestinal benign neoplasm (MONDO:0003062)
Parent Node: large intestine disease (MONDO:0024634)
..Starting node ..benign neoplasm of large intestine ()
Child Nodes:
........benign colon neoplasm ()
........benign neoplasm of rectum ()
........colorectal leiomyoma ()
........colorectal lipoma ()
Sister Nodes:
..anal canal cancer ()
..benign neoplasm of large intestine ()
..colonic disease ()
..colorectal Kaposi sarcoma ()
..colorectal neoplasm ()
..Crohn's colitis ()
..epithelial tumor of anal canal ()
..perianal Crohn disease ()
..polyp of large intestine ()
..rectal disease ()
..shigellosis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	21444
Name:	benign neoplasm of large intestine
Definition:	A benign neoplasm that involves the large intestine.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	benign colorectal neoplasm; benign colorectal neoplasms; benign colorectal tumor; benign colorectal tumors; benign large bowel neoplasm; benign large bowel tumor; benign large intestine neoplasm; benign large intestine tumor; benign neoplasm of large bowel; benign neoplasm of the large bowel; benign
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal