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: benign urinary system neoplasm (MONDO:0004180)
Parent Node: kidney neoplasm (MONDO:0021163)
..Starting node ..kidney benign neoplasm ()
Child Nodes:
........benign cystic nephroma ()
........benign mesonephroma ()
........benign metanephric tumour ()
........benign neoplasm of renal pelvis ()
........kidney angiomyolipoma ()
........kidney lipoma ()
........kidney oncocytoma ()
........nephrogenic adenofibroma ()
........nephrogenic adenoma ()
........phaeochromocytoma ()
........renal adenoma ()
........renal leiomyoma ()
Sister Nodes:
..childhood kidney neoplasm ()
..inherited renal tumor ()
..kidney benign neoplasm ()
..kidney cancer ()
..kidney hemangiopericytoma ()
..mesonephric neoplasm ()
..mixed epithelial stromal tumor of the kidney ()
..multiloculated renal cyst ()
..non-amyloid monoclonal immunoglobulin deposition disease ()
..renal pelvis neoplasm ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	2513
Name:	kidney benign neoplasm
Definition:	A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	benign kidney neoplasm; benign kidney tumor; benign neoplasm of kidney; benign neoplasm of the kidney; benign renal neoplasm; benign renal tumor; benign tumor of kidney; benign tumor of the kidney; kidney benign neoplasm; renal and ureteral tumor; renal neoplasm, benign; renal tumor, benign
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: TGFBR2;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal