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)
Parent Node: disease of ear (MONDO:0021205)
..Starting node ..middle ear disease ()
Child Nodes:
........cholesteatoma of middle ear ()
........eustachian tube disease ()
........necrosis of ear ossicle ()
........neoplasm of middle ear ()
........otitis media (disease) ()
........tympanic membrane disease ()
Sister Nodes:
..ear infection ()
..ear neoplasm ()
..external ear disease ()
..hyperacusis ()
..inner ear disease ()
..middle ear disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	3276
Name:	middle ear disease
Definition:	A disease involving the middle ear.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	disease of middle ear; disease or disorder of middle ear; disorder of middle ear; disorder of middle ear; middle ear disease; middle ear disease or disorder; middle Ear disorder
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal