MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

Hello! Guest! Please Login or Register! Clinician Mode

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 ..adhesive otitis media ()
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:	1234
Name:	adhesive otitis media
Definition:	An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	adhesive middle ear disease; adhesive otitis media; chronic adhesive otitis media; fibrotic adhesive otitis media
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal