Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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

Hearing Loss Disease Portal

Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Gastroenteritis (D005759)
Parent Node: Intestinal Diseases (D007410)
..Starting node ..Enterocolitis (D004760)
Child Nodes:
........Enterocolitis, Necrotizing (D020345)
........Enterocolitis, Neutropenic (D044504)
........Enterocolitis, Pseudomembranous (D004761)
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:

3786

Name:

Enterocolitis

Definition:

Inflammation of the MUCOSA of both the SMALL INTESTINE and the LARGE INTESTINE. Etiology includes ISCHEMIA, infections, allergic, and immune responses.

Alternative IDs:

ParentIDs:

MESH:D005759|MESH:D007410

TreeNumbers:

C06.405.205.596 |C06.405.469.363

Synonyms:

Enterocolitides

Slim Mappings:

Digestive system disease

Reference:

MedGen: D004760
MeSH: D004760
OMIM: 226150;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003270	Abdominal distention
3	HP:0004387	Enterocolitis
4	HP:0002573	Hematochezia
5	HP:0100279	Ulcerative colitis

Disease Causing ClinVar Variants