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: leiomyoma (MONDO:0001572)
Parent Node: ureter benign neoplasm (MONDO:0001398)
..Starting node ..ureter leiomyoma ()
Child Nodes:
Sister Nodes:
..schwannoma of ureter ()
..ureter leiomyoma ()
..ureter urothelial papilloma ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1399
Name:	ureter leiomyoma
Definition:	A benign smooth muscle neoplasm arising from the ureter. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	leiomyoma of the ureter; leiomyoma of ureter; ureter leiomyoma; ureteral leiomyoma
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: SEPT9;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal