Disease browser and phenotype portal

About
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
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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

Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Respiratory Tract Diseases (D012140)
..Starting node ..Respiration Disorders (D012120)
Child Nodes:
........Acute Chest Syndrome (D056586)
........Altitude Sickness (D000532) 1
........Apnea (D001049) 7
........Cheyne-Stokes Respiration (D002639)
........Cough (D003371) 1
........Dyspnea (D004417) 1
........Hoarseness (D006685) 2
........Hyperventilation (D006985) 2
........Hypoglossia With Situs Inversus (C567567)
........Hypoglossia, Isolated (C567568)
........Meconium Aspiration Syndrome (D008471)
........Methionine Malabsorption Syndrome (C562682)
........Mouth Breathing (D009058)
........Respiratory Aspiration (D053120) 1
........Respiratory Distress Syndrome, Adult (D012128)
........Respiratory Distress Syndrome, Newborn (D012127) 9
........Respiratory Insufficiency (D012131) 19
........Sarcoglycanopathies (D058088) 3
........Tachypnea (D059246) 1
........Vocal Cord Dysfunction (D064706) 1
Sister Nodes:
..Bronchial Diseases (D001982) 54
..Ciliary Motility Disorders (D002925) 21
..Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities (C567716)
..Granuloma, Respiratory Tract (D015769) 1
..Laryngeal Diseases (D007818) 37
..Lung Diseases (D008171) 190
..Nose Diseases (D009668) 42
..Pleural Diseases (D010995) 19
..Respiration Disorders (D012120) 65
..Respiratory Hypersensitivity (D012130) 30
..Respiratory System Abnormalities (D015619) 27
..Respiratory Tract Fistula (D016156) 6
..Respiratory Tract Infections (D012141) 75
..Respiratory Tract Neoplasms (D012142) 30
..Siegler Brewer Carey syndrome (C537335)
..Thoracic Diseases (D013896) 7
..Tracheal Diseases (D014133) 19
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9680
Name:	Respiration Disorders
Definition:	Diseases of the respiratory system in general or unspecified or for a specific respiratory disease not available.
Alternative IDs:
ParentIDs:	MESH:D012140
TreeNumbers:	C08.618
Synonyms:	Disorder, Respiration \|Disorders, Respiration \|Respiration Disorder
Slim Mappings:	Respiratory tract disease
Reference:	MedGen: D012120 MeSH: D012120 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants