Disease browser and phenotype 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

Disease Browser
Parent Node: Intestinal Diseases (D007410)
..Starting node ..Colonic Diseases (D003108)
Child Nodes:
........Chilaiditi Syndrome (D059269)
........Colitis (D003092) 10
........Colonic Diseases, Functional (D003109) 3
........Colorectal Neoplasms (D015179) 32
........Diverticulosis, Colonic (D043963) 2
........Megacolon (D008531) 24
........Sigmoid Diseases (D012810) 2
Sister Nodes:
..4-hydroxyphenylacetic aciduria (C535315)
..Cecal Diseases (D002429) 4
..Colonic Diseases (D003108) 78
..Duodenal Diseases (D004378) 20
..Dysentery (D004403) 3
..Enteritis (D004751) 4
..Enterocolitis (D004760) 3
..HIV Enteropathy (D019053)
..Homozygous 11p15-p14 Deletion Syndrome (C564701)
..Ileal Diseases (D007077) 3
..Inflammatory Bowel Diseases (D015212) 31
..Intestinal Atresia (D007409) 11
..Intestinal Diseases, Parasitic (D007411) 10
..Intestinal Fistula (D007412) 2
..Intestinal Neoplasms (D007414) 43
..Intestinal Obstruction (D007415) 31
..Intestinal Perforation (D007416)
..Intestinal Polyposis (D044483) 14
..Jejunal Diseases (D007579) 1
..Malabsorption Syndromes (D008286) 29
..Mesenteric Ischemia (D065666)
..Mesenteric Vascular Occlusion (D008641)
..Neuronal intestinal pseudoobstruction (C537394)
..Pneumatosis Cystoides Intestinalis (D011006)
..Protein-Losing Enteropathies (D011504) 1
..Rectal Diseases (D012002) 48
..Sitosterolemia (C537345)
..Vascular Hyalinosis (C564750)
..Zollinger-Ellison Syndrome (D015043)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	2498
Name:	Colonic Diseases
Definition:	Pathological processes in the COLON region of the large intestine (INTESTINE, LARGE).
Alternative IDs:
ParentIDs:	MESH:D007410
TreeNumbers:	C06.405.469.158
Synonyms:	Colonic Disease \|Disease, Colonic \|Diseases, Colonic
Slim Mappings:	Digestive system disease
Reference:	MedGen: D003108 MeSH: D003108 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants