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)
..Starting node ..neurogenic arthropathy ()
Child Nodes:
Sister Nodes:
..ankylosis (disease) ()
..arthritis ()
..articular cartilage disease ()
..Behcet syndrome arthropathy ()
..Borrone di Rocco Crovato syndrome ()
..bursitis ()
..crystal arthropathy ()
..de Quervain disease ()
..ganglion or cyst of synovium/tendon/bursa ()
..hemarthrosis ()
..hydrarthrosis ()
..hypermobility syndrome ()
..neurogenic arthropathy ()
..patellofemoral pain syndrome ()
..secondary hypertrophic osteoarthropathy ()
..shoulder impingement syndrome ()
..spondyloarthropathy ()
..synovial plica syndrome ()
..synovium neoplasm ()
..temporomandibular joint disorder ()
..tenosynovitis ()
..Tietze syndrome ()
..transient arthropathy ()
..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:	1935
Name:	neurogenic arthropathy
Definition:	Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly tabes dorsalis, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	arthropathy associated with neurological disorder; Charcot's arthropathy; Charcot's joint; neuropathic arthropathy; neuropathic arthropathy (& Charcot's)
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: CST3;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal