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: suppurative otitis media (MONDO:0005975)
..Starting node ..chronic tubotympanic suppurative otitis media ()
Child Nodes:
Sister Nodes:
..chronic purulent otitis media ()
..chronic tubotympanic suppurative otitis media ()
..purulent acute otitis media ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1964
Name:	chronic tubotympanic suppurative otitis media
Definition:	A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections.
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Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: ERCC2;
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MSeqDR Portal