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: inflammatory disease (MONDO:0021166)
Parent Node: middle ear disease (MONDO:0003276)
..Starting node ..otitis media (disease) ()
Child Nodes:
........allergic otitis media ()
........chronic otitis media ()
........infectious otitis media ()
........middle ear cholesterol granuloma ()
........non-suppurative otitis media ()
........otosalpingitis ()
........suppurative otitis media ()
........tympanitis ()
Sister Nodes:
..cholesteatoma of middle ear ()
..eustachian tube disease ()
..necrosis of ear ossicle ()
..neoplasm of middle ear ()
..otitis media (disease) ()
..tympanic membrane disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	5441
Name:	otitis media (disease)
Definition:	Inflammation of the anatomical structures of the middle ear, which is most often caused by an infectious process. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	inflammation of middle ear; medial otitis; middle Ear Inflammation; middle ear inflammation; otitis Media
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: CDC73;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal