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: bursitis (MONDO:0002471)
Parent Node: limb disorder (MONDO:0044967)
Parent Node: skeletal ligament disease (MONDO:0045004)
Parent Node: tendinitis (MONDO:0004857)
..Starting node ..Achilles bursitis ()
Child Nodes:
Sister Nodes:
..Achilles bursitis ()
..calcific tendinitis ()
..paratenonitis ()
..patellar tendinitis ()
..tenosynovitis ()
..tibialis tendinitis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1594
Name:	Achilles bursitis
Definition:	An bursitis involving a pathogenic inflammatory response in the calcaneal tendon.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Achilles bursitis or tendinitis; capped hock; Haglund's deformity; Haglund's disease
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal