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
- MSeq-OpenCGA
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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 ..Pulmonary Fibrosis (D011658)
Child Nodes:
........Idiopathic Pulmonary Fibrosis (D054990)
........Immunodeficiency, Gonadal Dysgenesis, And Pulmonary Fibrosis (C567457)
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:	9490
Name:	Pulmonary Fibrosis
Definition:	A process in which normal lung tissues are progressively replaced by FIBROBLASTS and COLLAGEN causing an irreversible loss of the ability to transfer oxygen into the bloodstream via PULMONARY ALVEOLI. Patients show progressive DYSPNEA finally resulting in death.
Alternative IDs:
ParentIDs:	MESH:D008171
TreeNumbers:	C08.381.765
Synonyms:	Alveolitides, Fibrosing \|Alveolitis, Fibrosing \|Fibroses, Pulmonary \|Fibrosing Alveolitides \|Fibrosing Alveolitis \|Fibrosis, Pulmonary \|Hamman Rich Syndrome \|Hamman-Rich Syndrome \|Pulmonary Fibroses \|Syndrome, Hamman-Rich
Slim Mappings:	Respiratory tract disease
Reference:	MedGen: D011658 MeSH: D011658 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants