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: middle ear disease (MONDO:0003276)
..Starting node ..tympanic membrane disease ()
Child Nodes:
........atrophic flaccid tympanic membrane ()
........atrophic nonflaccid tympanic membrane ()
........myringitis bullosa hemorrhagica ()
........tympanitis ()
........tympanosclerosis ()
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:	3648
Name:	tympanic membrane disease
Definition:	A disease involving the tympanic membrane.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	disease of tympanic membrane; disease or disorder of tympanic membrane; disorder of tympanic membrane; disorder of tympanic membrane; tympanic membrane disease; tympanic membrane disease or disorder
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal