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: renal cell carcinoma (disease) (MONDO:0005086)
Parent Node: renal tubule disease (MONDO:0021568)
..Starting node ..mucinous tubular and spindle renal cell carcinoma ()
Child Nodes:
Sister Nodes:
..Fanconi syndrome ()
..inherited renal tubular disease ()
..mucinous tubular and spindle renal cell carcinoma ()
..renal tubular acidosis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	3011
Name:	mucinous tubular and spindle renal cell carcinoma
Definition:	A low grade carcinoma of the kidney characterized by the presence of tubules which are separated by mucinous stroma. Often the tubular structures have a spindle cell appearance. Patients are usually asymptomatic and occasionally they may present with hematuria or flank pain.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	carcinoma, renal, tubular, malignant; mucinous tubular and spindle cell carcinoma of the kidney; mucinous tubular and spindle cell renal carcinoma; renal mucinous tubular spindle cell carcinoma
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal