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: neoplasm (disease) (MONDO:0005070)
Parent Node: vertebral column disease (MONDO:0000812)
..Starting node ..epidural spinal canal neoplasm ()
Child Nodes:
........epidural spinal canal angiolipoma ()
........intradural extramedullary spinal canal neoplasm ()
Sister Nodes:
..Baastrup syndrome ()
..coccygodynia ()
..epidural spinal canal neoplasm ()
..lumbosacral lipoma ()
..sacrococcygeal teratoma ()
..sacrum chordoma ()
..spinal injury ()
..spinal stenosis ()
..spondylocostal dysostosis ()
..tuberculosis, spinal ()
..vertebral disease ()
..vertebral joint disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	2713
Name:	epidural spinal canal neoplasm
Definition:	A primary or metastatic neoplasm that involves the space between the vertebral periosteum and dura mater that surrounds the spinal cord.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	epidural neoplasm; epidural space neoplasm; epidural space tumor; epidural spinal canal neoplasm; epidural spinal canal tumor; epidural spinal canal tumors; epidural spinal neoplasms; epidural spinal tumors; epidural tumor; extradural neoplasm; extradural spinal canal neoplasm; extradural spinal can
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal