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: adenocarcinoma (MONDO:0004970)
Parent Node: renal carcinoma (MONDO:0005206)
..Starting node ..renal cell carcinoma (disease) ()
Child Nodes:
........acquired cystic disease-associated renal cell carcinoma ()
........adrenal cortex carcinoma ()
........collecting duct carcinoma ()
........cystic renal cell carcinoma ()
........kidney medullary carcinoma ()
........MIT family translocation renal cell carcinoma ()
........mucinous tubular and spindle renal cell carcinoma ()
........nonpapillary renal cell carcinoma ()
........renal cell adenocarcinoma ()
........renal pelvis adenocarcinoma ()
........Wolffian duct adenocarcinoma ()
Sister Nodes:
..familial papillary thyroid carcinoma with renal papillary neoplasia ()
..kidney carcinoma in situ ()
..multiple endocrine neoplasia type 2B ()
..renal cell carcinoma (disease) ()
..renal pelvis carcinoma ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	5086
Name:	renal cell carcinoma (disease)
Definition:	A carcinoma that arises from glandular epithelial cells of the kidney
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	adenocarcinoma of kidney; hypernephroma; kidney adenocarcinoma; RCC; renal cell adenocarcinoma; renal cell carcinoma
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal