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: degenerative disorder (MONDO:0024236)
Parent Node: vertebral joint disease (MONDO:0037847)
..Starting node ..intervertebral disc degenerative disorder ()
Child Nodes:
........cervical disc degenerative disorder ()
........lumbar disc degenerative disorder ()
........thoracic disc degenerative disorder ()
Sister Nodes:
..ankylosing spondylitis ()
..discitis ()
..intervertebral disc degenerative disorder ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	11385
Name:	intervertebral disc degenerative disorder
Definition:	Any disease of a degenerative nature that affects the intervertebral disc.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	cervical disc degenerative disease; degenerative disc disease; degenerative disorder of intervertebral disk; IDD; intervertebral Disc Degeneration; intervertebral disc degeneration; intervertebral Disc degenerative disease; intervertebral Disc degenerative disorder; intervertebral disc disease; inte
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal