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
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- LeighMap
- Expert Panel
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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: Lung Diseases (D008171)
..Starting node ..Pulmonary Atelectasis (D001261)
Child Nodes:
........Middle Lobe Syndrome (D008878)
Sister Nodes:
..46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS (OMIM:611812)
..Acute Chest Syndrome (D056586)
..alpha 1-Antitrypsin Deficiency (D019896) 1
..alpha-2-Macroglobulin Deficiency (C566304)
..Anophthalmia with pulmonary hypoplasia (C537768)
..Cystic Adenomatoid Malformation of Lung, Congenital (D015615)
..Cystic Disease Of Lung (C563237)
..Cystic Fibrosis (D003550) 4
..Hemoptysis (D006469)
..Hepatopulmonary Syndrome (D020065)
..Hypertension, Pulmonary (D006976) 12
..Idiopathic pulmonary hemosiderosis (C536281)
..Kashani Strom Utley syndrome (C537010)
..Lung Abscess (D008169)
..Lung agenesis (C537725)
..Lung Diseases, Fungal (D008172) 5
..Lung Diseases, Interstitial (D017563) 39
..Lung Diseases, Obstructive (D008173) 34
..Lung Diseases, Parasitic (D008174) 1
..Lung Injury (D055370) 20
..Lung Neoplasms (D008175) 17
..Lung, Hyperlucent (D019568)
..Lymphangiectasia, pulmonary, congenital (C537727)
..Plasma Cell Granuloma, Pulmonary (D016726)
..Pneumonia (D011014) 16
..Pulmonary Alveolar Microlithiasis (C562405)
..Pulmonary Alveolar Proteinosis (D011649) 7
..Pulmonary Atelectasis (D001261) 1
..Pulmonary Edema (D011654) 1
..Pulmonary Embolism (D011655) 3
..Pulmonary Eosinophilia (D011657) 1
..Pulmonary Fibrosis (D011658) 2
..PULMONARY FUNCTION (OMIM:608852)
..Pulmonary Hypoplasia, Primary (C562992)
..Pulmonary Veno-Occlusive Disease (D011668)
..Rapidly progressive glomerulonephritis with pulmonary hemorrhage (C538458)
..Respiratory Distress Syndrome, Adult (D012128)
..Respiratory Distress Syndrome, Newborn (D012127) 9
..Scimitar Syndrome (D012587) 1
..Solitary Pulmonary Nodule (D003074)
..Tetra-amelia with pulmonary hypoplasia (C536499)
..Tuberculosis, Pulmonary (D014397) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9477
Name:	Pulmonary Atelectasis
Definition:	Absence of air in the entire or part of a lung, such as an incompletely inflated neonate lung or a collapsed adult lung. Pulmonary atelectasis can be caused by airway obstruction, lung compression, fibrotic contraction, or other factors.
Alternative IDs:
ParentIDs:	MESH:D008171
TreeNumbers:	C08.381.730
Synonyms:	Atelectases \|Atelectases, Compression \|Atelectases, Compression Pulmonary \|Atelectases, Congestive \|Atelectases, Congestive Pulmonary \|Atelectases, Contraction Pulmonary \|Atelectases, Postoperative Pulmonary \|Atelectases, Pulmonary \|Atelectases, Resorption \|Atele
Slim Mappings:	Respiratory tract disease
Reference:	MedGen: D001261 MeSH: D001261 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants