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

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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: Congenital Abnormalities (D000013)
Parent Node: Respiratory Tract Diseases (D012140)
..Starting node ..Respiratory System Abnormalities (D015619)
Child Nodes:
........Bronchogenic Cyst (D001994)
........Bronchopulmonary Sequestration (D001998)
........Choanal Atresia (D002754) 8
........Cystic Adenomatoid Malformation of Lung, Congenital (D015615)
........Fraser-Like Syndrome (C565562)
........Kartagener Syndrome (D007619) 6
........Laryngocele (D059608)
........Laryngostenosis (D007829)
........Oculoauriculofrontonasal syndrome (C537865)
........Scimitar Syndrome (D012587) 1
........Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs (C567517)
........Tracheobronchomegaly (D014137)
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:	9691
Name:	Respiratory System Abnormalities
Definition:	Congenital structural abnormalities of the respiratory system.
Alternative IDs:
ParentIDs:	MESH:D000013\|MESH:D012140
TreeNumbers:	C08.695 \|C16.131.740
Synonyms:	Abnormalities, Respiratory System \|Abnormality, Respiratory System \|Respiratory System Abnormality \|System Abnormalities, Respiratory \|System Abnormality, Respiratory
Slim Mappings:	Congenital abnormality\|Respiratory tract disease
Reference:	MedGen: D015619 MeSH: D015619 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants