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: arthropathy (MONDO:0006816)
Parent Node: immune system disease (MONDO:0005046)
..Starting node ..spondyloarthropathy ()
Child Nodes:
........ankylosing spondylitis ()
........hypermobility of coccyx ()
........Kummell disease ()
Sister Nodes:
..acquired immunodeficiency ()
..aggressive insulitis ()
..anti-HLA hyperimmunization ()
..benign insulitis ()
..bone marrow disease ()
..cerebral toxoplasmosis ()
..chronic inflammatory demyelinating polyneuropathy ()
..geotrichosis ()
..graft versus host disease ()
..granulomatosis with polyangiitis ()
..hypersensitivity reaction disease ()
..immune deficiency with skin involvement ()
..immune system cancer ()
..immune system organ benign neoplasm ()
..immunodeficiency disease ()
..immunodeficiency-related disorder ()
..immunoproliferative disorder ()
..infantile-onset periodic fever-panniculitis-dermatosis syndrome ()
..inflammatory bowel disease ()
..leukocyte disease ()
..lymphoid system disease ()
..multiple chemical sensitivity ()
..primary immunodeficiency disease ()
..psoriasis ()
..simian acquired immunodeficiency syndrome ()
..spondyloarthropathy ()
..thrombocytopenic purpura ()
..thymus gland disease ()
..twin to twin transfusion syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	5095
Name:	spondyloarthropathy
Definition:	A group of inflammatory rheumatic diseases associated with arthritis and enthesitis, and often involving the axial skeleton. The most common form of spondyloarthritis is ankylosing spondylitis. Other forms include axial spondyloarthritis, peripheral spondyloarthritis, reactive arthritis, psoriatic arthritis/spondylitis and enteropathic arthritis/spondylitis.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	seronegative spondyloarthropathy; spondarthropathy; spondylarthropathy; spondylarthrosis; spondyloarthritis
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal