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: lipoma (MONDO:0005106)
Parent Node: spindle cell neoplasm (MONDO:0020664)
..Starting node ..spindle cell lipoma ()
Child Nodes:
Sister Nodes:
..malignant spindle cell neoplasm ()
..spindle cell hemangioma ()
..spindle cell lipoma ()
..spindle cell melanoma ()
..spindle cell nevus ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	962
Name:	spindle cell lipoma
Definition:	A benign circumscribed tumor composed of spindled cells, adipocytes, and collagen bundles. There is no evidence of nuclear hyperchromasia or mitotic activity.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	spindle cell lipoma; spindle cell lipoma (morphologic abnormality)
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: NPSR1;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal