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: sensory system disease (MONDO:0005128)
..Starting node ..auditory system disease ()
Child 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 ()
Sister Nodes:
..auditory system disease ()
..disease of ear ()
..disease of visual system ()
..Holmes-Adie syndrome ()
..nose disease ()
..progressive external ophthalmoplegia ()
..sensory organ benign neoplasm ()
..sensory system cancer ()
..tongue disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	2409
Name:	auditory system disease
Definition:	A disease involving the auditory system.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	auditory disease; auditory system disease; auditory system disease or disorder; disease of auditory system; disease or disorder of auditory system; disorder of auditory system; disorder of auditory system; ear and mastoid disease
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal