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: Gastrointestinal Diseases (D005767)
..Starting node ..Intestinal Diseases (D007410)
Child 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)
Sister Nodes:
..Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities (C567716)
..Esophageal Diseases (D004935) 46
..Gastroenteritis (D005759) 66
..Gastrointestinal anthrax (C571911)
..Gastrointestinal Hemorrhage (D006471) 3
..Gastrointestinal Neoplasms (D005770) 60
..Intestinal Diseases (D007410) 264
..Peptic Ulcer (D010437) 9
..Siegler Brewer Carey syndrome (C537335)
..Stomach Diseases (D013272) 42
..Tuberculosis, Gastrointestinal (D014385)
..Visceral Prolapse (D014782)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5855
Name:	Intestinal Diseases
Definition:	Pathological processes in any segment of the INTESTINE from DUODENUM to RECTUM.
Alternative IDs:
ParentIDs:	MESH:D005767
TreeNumbers:	C06.405.469
Synonyms:	Disease, Intestinal \|Diseases, Intestinal \|Intestinal Disease
Slim Mappings:	Digestive system disease
Reference:	MedGen: D007410 MeSH: D007410 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants