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: cancer (MONDO:0004992)
Parent Node: spindle cell neoplasm (MONDO:0020664)
..Starting node ..malignant spindle cell neoplasm ()
Child Nodes:
........desmoplastic melanoma ()
........spindle cell intraocular melanoma ()
........spindle cell sarcoma ()
........spindle cell variant squamous cell breast carcinoma ()
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:	20663
Name:	malignant spindle cell neoplasm
Definition:	A malignant neoplasm characterized by the presence of atypical spindle cells.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	malignant spindle cell neoplasm; malignant spindle cell tumor; spindle cell cancer
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal