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: hemangioma (MONDO:0006500)
Parent Node: spindle cell neoplasm (MONDO:0020664)
..Starting node ..spindle cell hemangioma ()
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:	16222
Name:	spindle cell hemangioma
Definition:	Spindle cell hemangioma (SCH), also known as spindle cell hemangioendothelioma, is a rare benign vascular tumor either solitary or multiple, characterized by cavernous blood vessels separated by spindle cells reminiscent of those in KaposiBs sarcoma and located in the dermis and subcutis.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	SCh; spindle -cell hemangioma; spindle cell hemangioendothelioma; spindle cell hemangioma
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal