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: vertebral column disease (MONDO:0000812)
..Starting node ..vertebral disease ()
Child Nodes:
........Kummell disease ()
........spondylitis ()
........spondylolysis (disease) ()
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:	45002
Name:	vertebral disease
Definition:	A disease or disorder that involves the vertebra.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	disease of vertebra; disease or disorder of vertebra; disorder of vertebra; disorder of vertebra; vertebra disease; vertebra disease or disorder
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal