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: oculomotor nerve paralysis (MONDO:0001309)
..Starting node ..supranuclear oculomotor palsy ()
Child Nodes:
........Leigh disease ()
........Niemann-Pick disease type C ()
........progressive supranuclear palsy ()
........Wilson disease ()
Sister Nodes:
..nuclear oculomotor paralysis ()
..partial third-nerve palsy ()
..supranuclear oculomotor palsy ()
..total internal ophthalmoplegia ()
..total third-nerve palsy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	20257
Name:	supranuclear oculomotor palsy
Definition:	oculomotor palsy that arises from lesions in the supranuclear pathways controlling extraocular movement.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	conjugate gaze palsy; gaze palsy; supranuclear disorder of eye movement; supranuclear ocular palsy
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal