MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation 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

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: disease by anatomical system (MONDO:0021199)
Parent Node: thoracic disease (MONDO:0000651)
..Starting node ..mediastinal disease ()
Child Nodes:
........mediastinitis ()
........neoplasm of mediastinum ()
Sister Nodes:
..aneurysm of sinus of Valsalva ()
..breast disease ()
..bronchial disease ()
..diaphragm disease ()
..esophageal disease ()
..heart disease ()
..lung disease ()
..mediastinal disease ()
..neoplasm of thorax ()
..non-syndromic diaphragmatic or thoracic malformation ()
..pericardium disease ()
..syndromic diaphragmatic or thoracic malformation ()
..thoracic disc degenerative disorder ()
..thymus gland disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	43707
Name:	mediastinal disease
Definition:	A non-neoplastic or neoplastic disorder that affects the structures of the mediastinum. Representative examples include mediastinitis, mediastinal lipoma, mediastinal schwannoma, thymoma, and mediastinal lymphoma.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	disease of mediastinum; disease or disorder of mediastinum; disease, mediastinal; diseases, mediastinal; disorder of mediastinum; disorder of mediastinum; mediastinal disease; mediastinal disorder; mediastinum disease; mediastinum disease or disorder
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal