Disease browser and phenotype portal

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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

Disease Browser
Parent Node: Respiratory Tract Diseases (D012140)
..Starting node ..Tracheal Diseases (D014133)
Child Nodes:
........Novak syndrome (C537851)
........Tracheal Neoplasms (D014134)
........Tracheal Stenosis (D014135) 3
........Tracheitis (D014136)
........Tracheobronchomalacia (D055089) 4
........Tracheobronchomegaly (D014137)
........Tracheobronchopathia osteoplastica (C536977)
........Tracheoesophageal Fistula (D014138) 4
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:	11183
Name:	Tracheal Diseases
Definition:
Alternative IDs:
ParentIDs:	MESH:D012140
TreeNumbers:	C08.907
Synonyms:	Diseases, Tracheal \|Disease, Tracheal \|Tracheal Disease
Slim Mappings:	Respiratory tract disease
Reference:	MedGen: D014133 MeSH: D014133 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants