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 ..dislocation of ear ossicle ()
Child Nodes:
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:	1199
Name:	dislocation of ear ossicle
Definition:	Ossicular chain dislocation is a separation of the middle ear bones. It results in a hearing loss due to sound not being transmitted properly (conductive hearing loss). Ossicular chain dislocation is also called ossicular chain discontinuity.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	dislocation of ear ossicles; dislocation of ossicles; ossicle chain disarticulation; ossicle chain discontinuity; ossicle chain disruption; ossicular dislocation
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal