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: angiolipoma (MONDO:0006085)
Parent Node: epidural spinal canal neoplasm (MONDO:0002713)
..Starting node ..epidural spinal canal angiolipoma ()
Child Nodes:
Sister Nodes:
..epidural spinal canal angiolipoma ()
..intradural extramedullary spinal canal neoplasm ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	2712
Name:	epidural spinal canal angiolipoma
Definition:	An uncommon lipoma characterized by prominent vascularity that arises in the epidural space of the spinal canal.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	angiolipoma of epidural space; angiolipoma of epidural spinal canal; angiolipoma of extradural spinal canal; angiolipoma of the epidural spinal canal; angiolipoma of the extradural spinal canal; epidural space angiolipoma; extradural spinal canal angiolipoma
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: TGFBI;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal