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: rheumatoid arthritis (MONDO:0008383)
Parent Node: spondylitis (MONDO:0003937)
Parent Node: spondyloarthropathy (MONDO:0005095)
Parent Node: vertebral joint disease (MONDO:0037847)
..Starting node ..ankylosing spondylitis ()
Child Nodes:
........juvenile ankylosing spondylitis ()
........juvenile spondyloarthropathy ()
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:	5306
Name:	ankylosing spondylitis
Definition:	An autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints of the spine and sacroiliac joints. It predominantly affects young males. Patients present with stiffness and pain in the spine.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Bekhterev syndrome; Bekhterev's disease; Marie-Strumpell disease
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal