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: abdominal and pelvic region disorder (MONDO:0044965)
Parent Node: lipoma (MONDO:0005106)
Parent Node: vertebral column disease (MONDO:0000812)
..Starting node ..lumbosacral lipoma ()
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:	4077
Name:	lumbosacral lipoma
Definition:	A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within the lumbosacral tissue of the spine.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	lipoma of sacral region of vertebral column; sacral region of vertebral column lipoma
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal