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: peripheral neuropathy (MONDO:0005244)
..Starting node ..mononeuropathy ()
Child Nodes:
........femoral neuropathy ()
........mononeuritis simplex ()
........peroneal neuropathy ()
........radial neuropathy ()
........sciatic neuropathy ()
........tibial neuropathy ()
........ulnar neuropathy ()
Sister Nodes:
..acquired peripheral neuropathy ()
..autoimmune neuropathy ()
..autonomic neuropathy ()
..axonal neuropathy ()
..diabetic neuropathy ()
..genetic peripheral neuropathy ()
..inflammatory and toxic neuropathy ()
..ischemic neuropathy ()
..mononeuropathy ()
..motor peripheral neuropathy ()
..nerve compression syndrome ()
..nerve plexus disease ()
..neuralgia ()
..neuritis ()
..neuromuscular disease ()
..peripheral nerve lesion ()
..polyneuropathy ()
..PRPS1 deficiency disorder ()
..sensory peripheral neuropathy ()
..uremic neuropathy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1397
Name:	mononeuropathy
Definition:	Disease or trauma involving a single peripheral nerve in isolation, or out of proportion to evidence of diffuse peripheral nerve dysfunction. Mononeuropathy multiplex refers to a condition characterized by multiple isolated nerve injuries. Mononeuropathies may result from a wide variety of causes, including ischemia; traumatic injury; compression; connective tissue diseases; cumulative trauma disorders; and other conditions.
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Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal