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: cranial nerve palsy (MONDO:0002782)
Parent Node: neuro-ophthalmological disease (MONDO:0015368)
Parent Node: third cranial nerve disease (MONDO:0003546)
..Starting node ..oculomotor nerve paralysis ()
Child Nodes:
........nuclear oculomotor paralysis ()
........partial third-nerve palsy ()
........supranuclear oculomotor palsy ()
........total internal ophthalmoplegia ()
........total third-nerve palsy ()
Sister Nodes:
..oculomotor nerve neoplasm ()
..oculomotor nerve paralysis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1309
Name:	oculomotor nerve paralysis
Definition:	Paralysis of the oculomotor nerve.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	cranial nerve palsy of oculomotor nerve; III nerve palsy; IIIrd nerve paralysis; oculomotor nerve cranial nerve palsy; oculomotor nerve paralysis; oculomotor palsy; third cranial nerve paralysis; third cranial nerve paralysis, NOS
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal