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: skeletal system disease (MONDO:0005172)
..Starting node ..vertebral column disease ()
Child 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 ()
Sister Nodes:
..arthropathy ()
..bone disease ()
..bone marrow disease ()
..cartilage disease ()
..flatfoot ()
..mixed connective tissue disease ()
..necrosis of ear ossicle ()
..ossification of the posterior longitudinal ligament of the spine ()
..patellar tendinitis ()
..rare odontologic disease ()
..rheumatic fever ()
..skeletal ligament disease ()
..skeletal tuberculosis ()
..sternal neoplasm ()
..symphalangism ()
..tooth disease ()
..vertebral column disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	812
Name:	vertebral column disease
Definition:	A disease involving the vertebral column.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	disease of spine; disease of vertebral column; disease or disorder of vertebral column; disorder of vertebral column; disorder of vertebral column; spinal disease; vertebral column disease; vertebral column disease or disorder
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal