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 glioma (MONDO:0000638)
Parent Node: benign neoplasm of peripheral nervous system (MONDO:0056804)
Parent Node: peripheral nerve schwannoma (MONDO:0004820)
Parent Node: ureter benign neoplasm (MONDO:0001398)
..Starting node ..schwannoma of ureter ()
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:	1400
Name:	schwannoma of ureter
Definition:	A benign nerve sheath tumor composed of Schwann cells, occurring in the ureter.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	neurilemmoma of the ureter; neurilemmoma of ureter; schwannoma of the ureter; ureter neurilemmoma; ureter schwannoma; ureteral neurilemmoma; ureteral schwannoma
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal