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
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- MitoTIP tRNA Scoring
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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 ..Lung, Hyperlucent (D019568)
Child Nodes:
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:	6566
Name:	Lung, Hyperlucent
Definition:	A lung with reduced markings on its chest radiograph and increased areas of transradiancy (hyperlucency). A hyperlucent lung is usually associated with pulmonary emphysema or PNEUMOTHORAX.
Alternative IDs:
ParentIDs:	MESH:D008171
TreeNumbers:	C08.381.570
Synonyms:	Hyperlucent Lung \|Hyperlucent Lungs \|Hyperlucent Lungs, Unilateral \|Hyperlucent Lung, Unilateral \|Hyperlucent Thorax \|Lungs, Hyperlucent \|Lungs, Unilateral Hyperlucent \|Lung, Unilateral Hyperlucent \|MacLeod Syndrome \|Swyer James Syndrome \|Swyer-James Syndrome \|Synd
Slim Mappings:	Respiratory tract disease
Reference:	MedGen: D019568 MeSH: D019568 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants