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

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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

Hearing Loss Disease Portal

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

Disease Browser
Parent Node: Gastrointestinal Neoplasms (D005770)
Parent Node: Intestinal Diseases (D007410)
..Starting node ..Intestinal Neoplasms (D007414)
Child Nodes:
........Carcinoid Tumors, Intestinal (C562842)
........Cecal Neoplasms (D002430) 1
........Colorectal Neoplasms (D015179) 32
........Duodenal Neoplasms (D004379) 1
........Gastro-enteropancreatic neuroendocrine tumor (C535650)
........Hemangiomas of Small Intestine (C564201)
........Ileal Neoplasms (D007078)
........Immunoproliferative Small Intestinal Disease (D007161)
........Jejunal Neoplasms (D007580)
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:	5861
Name:	Intestinal Neoplasms
Definition:	Tumors or cancer of the INTESTINES.
Alternative IDs:
ParentIDs:	MESH:D005770\|MESH:D007410
TreeNumbers:	C04.588.274.476.411 \|C06.301.371.411 \|C06.405.249.411 \|C06.405.469.491
Synonyms:	Cancer, Intestinal \|Cancer, Intestines \|Cancer of Intestines \|Cancer of the Intestines \|Cancers, Intestinal \|Cancers, Intestines \|Intestinal Cancer \|Intestinal Cancers \|Intestinal Neoplasm \|Intestines Cancer \|Intestines Cancers \|Intestines Neoplasm \|Intestines Neopl
Slim Mappings:	Cancer\|Digestive system disease
Reference:	MedGen: D007414 MeSH: D007414 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants