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: brachial plexus neuropathy (MONDO:0006683)
Parent Node: limb disorder (MONDO:0044967)
Parent Node: mononeuropathy (MONDO:0001397)
..Starting node ..radial neuropathy ()
Child Nodes:
........radial nerve lesion ()
Sister Nodes:
..femoral neuropathy ()
..mononeuritis simplex ()
..peroneal neuropathy ()
..radial neuropathy ()
..sciatic neuropathy ()
..tibial neuropathy ()
..ulnar neuropathy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1459
Name:	radial neuropathy
Definition:	Disease involving the radial nerve. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the axilla and radial groove of the humerus.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	peripheral neuropathy of radial nerve; radial nerve peripheral neuropathy
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal