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: connective tissue cancer (MONDO:0002176)
Parent Node: synovium neoplasm (MONDO:0002528)
..Starting node ..synovium cancer ()
Child Nodes:
........malignant tenosynovial giant cell tumor ()
Sister Nodes:
..benign synovial neoplasm ()
..synovium cancer ()
..tenosynovial giant cell tumor ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	2403
Name:	synovium cancer
Definition:	A cancer that involves the layer of synovial tissue.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	cancer of layer of synovial tissue; cancer of synovial membrane of synovial joint; layer of synovial tissue cancer; malignant layer of synovial tissue neoplasm; malignant neoplasm of layer of synovial tissue; malignant neoplasm of synovial membrane of synovial joint; malignant neoplasm of synovium;
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal