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: Thoracic Diseases (D013896)
..Starting node ..Mediastinal Diseases (D008477)
Child Nodes:
........Boerhaave syndrome (C536571)
........Mediastinal Cyst (D008476)
........Mediastinal Emphysema (D008478)
........Mediastinal Neoplasms (D008479)
........Mediastinitis (D008480) 1
Sister Nodes:
..Mediastinal Diseases (D008477) 6
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	6874
Name:	Mediastinal Diseases
Definition:	Disorders of the mediastinum, general or unspecified.
Alternative IDs:
ParentIDs:	MESH:D013896
TreeNumbers:	C08.846.187
Synonyms:	Disease, Mediastinal \|Diseases, Mediastinal \|Mediastinal Disease
Slim Mappings:	Respiratory tract disease
Reference:	MedGen: D008477 MeSH: D008477 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants