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: abdominal and pelvic region disorder (MONDO:0044965)
Parent Node: spinal chordoma (MONDO:0002894)
Parent Node: vertebral column disease (MONDO:0000812)
..Starting node ..sacrum chordoma ()
Child Nodes:
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:	518
Name:	sacrum chordoma
Definition:	A chordoma (disease) that involves the fused sacrum.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	chordoma (disease) of fused sacrum; fused sacrum chordoma (disease)
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal