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:
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- HBCR Exome (Retired)
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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 Diseases, Interstitial (D017563)
Child Nodes:
........Alveolitis, Extrinsic Allergic (D000542) 5
........Anti-Glomerular Basement Membrane Disease (D019867)
........Granulomatosis with Polyangiitis (D014890) 2
........Histiocytosis, Langerhans-Cell (D006646) 3
........Idiopathic Interstitial Pneumonias (D054988) 2
........Interstitial Pneumonitis, Desquamative, Familial (C562470)
........Lymphoid Interstitial Pneumonia (C562489)
........Pneumoconiosis (D011009) 13
........Radiation Pneumonitis (D017564)
........Sarcoidosis, Pulmonary (D017565)
........Surfactant Dysfunction (C580477)
........Surfactant Metabolism Dysfunction, Pulmonary, 1 (C566882)
........Surfactant Metabolism Dysfunction, Pulmonary, 2 (C567048)
........Surfactant Metabolism Dysfunction, Pulmonary, 3 (C567046)
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:	6563
Name:	Lung Diseases, Interstitial
Definition:	A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of PULMONARY ALVEOLI that extends to the interstitium and beyond leading to diffuse PULMONARY FIBROSIS. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features.
Alternative IDs:
ParentIDs:	MESH:D008171
TreeNumbers:	C08.381.483
Synonyms:	Diffuse Parenchymal Lung Diseases \|Interstitial Lung Disease \|Interstitial Lung Diseases \|Interstitial Pneumonia \|Interstitial Pneumonias \|Interstitial Pneumonitides \|Interstitial Pneumonitis \|Lung Disease, Interstitial \|Pneumonia, Interstitial \|Pneumonias, Inter
Slim Mappings:	Respiratory tract disease
Reference:	MedGen: D017563 MeSH: D017563 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants