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: syndromic disease (MONDO:0002254)
Parent Node: tibial neuropathy (MONDO:0006997)
..Starting node ..tarsal tunnel syndrome ()
Child Nodes:
Sister Nodes:
..tarsal tunnel syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	6994
Name:	tarsal tunnel syndrome
Definition:	Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the nerve and cause the pain associated with tarsal tunnel syndrome.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	neuropathy of the posterior tibial nerve and its branches; posterior tibial nerve neuralgia
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: ATRX;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal