Disease browser and phenotype portal

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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
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- 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: Digestive System Abnormalities (D004065)
Parent Node: Intestinal Diseases (D007410)
..Starting node ..Intestinal Atresia (D007409)
Child Nodes:
........Atresia of small intestine (C538260)
........Colonic Atresia (C562562)
........Coronal synostosis, syndactyly and jejunal atresia (C536445)
........Duodenojejunal atresia with volvulus, absent dorsal mesentery and absent superior mesenteric artery (C535722)
........Intestinal Atresia, Multiple (C562441)
........Jejunal Atresia with Microcephaly and Ocular Anomalies (C565460)
........Jejunal atresia with renal adysplasia (C537567)
........Martinez-Frias Syndrome (C563346)
........Mitchell-Riley Syndrome (C567570)
........Pfeiffer Rockelein syndrome (C537890)
........Umbilical cord ulceration and intestinal atresia (C536938)
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:	5853
Name:	Intestinal Atresia
Definition:	Congenital obliteration of the lumen of the intestine, with the ILEUM involved in 50% of the cases and the JEJUNUM and DUODENUM following in frequency. It is the most frequent cause of INTESTINAL OBSTRUCTION in NEWBORNS. (From Stedman, 25th ed)
Alternative IDs:
ParentIDs:	MESH:D004065\|MESH:D007410
TreeNumbers:	C06.198.719 \|C06.405.469.445 \|C16.131.314.466
Synonyms:	Apple Peel Intestinal Atresia \|Apple-Peel Intestinal Atresia \|Apple-Peel Intestinal Atresias \|Apple Peel Small Bowel Syndrome \|Apple Peel Syndrome \|Apple Peel Syndromes \|Atresia, Apple-Peel Intestinal \|Atresia, Congenital Intestinal \|Atresia, Intestinal \|Atresia,
Slim Mappings:	Congenital abnormality\|Digestive system disease
Reference:	MedGen: D007409 MeSH: D007409 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants