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: spondylitis (MONDO:0003937)
..Starting node ..inflammatory spondylopathy ()
Child Nodes:
Sister Nodes:
..ankylosing spondylitis ()
..gonococcal spondylitis ()
..inflammatory spondylopathy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1434
Name:	inflammatory spondylopathy
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	inflammatory spondylopathies in disease classified elsewhere; inflammatory spondylopathies in disease EC; inflammatory spondylopathy in disease classified elsewhere
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal