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: auditory system disease (MONDO:0002409)
..Starting node ..retrocochlear disease ()
Child Nodes:
........vestibulocochlear nerve disease ()
Sister Nodes:
..adhesive otitis media ()
..auditory system cancer ()
..discharging ear ()
..dislocation of ear ossicle ()
..external ear disease ()
..hearing disorder ()
..inherited auditory system disease ()
..inner ear disease ()
..middle ear disease ()
..retrocochlear disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	2453
Name:	retrocochlear disease
Definition:	Pathological processes involving the vestibulocochlear nerve; brainstem; or central nervous system. When hearing loss is due to retrocochlear pathology, it is called retrocochlear hearing loss.
Alternative IDs:
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Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal