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: limb disorder (MONDO:0044967)
Parent Node: mononeuritis simplex (MONDO:0002121)
..Starting node ..mononeuritis of lower limb ()
Child Nodes:
........common peroneal nerve lesion ()
........tibial nerve palsy ()
Sister Nodes:
..mononeuritis of lower limb ()
..upper limb mononeuronitis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	4797
Name:	mononeuritis of lower limb
Definition:	A mononeuritis simplex that involves the hindlimb.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	hindlimb mononeuritis simplex; mononeuritis simplex of hindlimb
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal