MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

Hello! Guest! Please Login or Register! Clinician Mode

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: melanoma (disease) (MONDO:0005105)
Parent Node: spindle cell neoplasm (MONDO:0020664)
..Starting node ..spindle cell melanoma ()
Child Nodes:
........desmoplastic melanoma ()
........spindle cell intraocular melanoma ()
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:	6427
Name:	spindle cell melanoma
Definition:	A melanoma characterized by the presence of malignant spindle-shaped melanocytes.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	desmoplastic melanoma; malignant spindle cell melanoma; spindle cell malignant melanoma; spindle cell melanoma; spindle cell melanoma NOS (morphologic abnormality); spitzoid malignant melanoma
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal