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: auditory system disease (MONDO:0002409)
..Starting node ..inherited auditory system disease ()
Child Nodes:
........age-related hearing impairment 1 ()
........age-related hearing impairment 2 ()
........benign paroxysmal positional nystagmus ()
........congenital corneal opacities, cornea guttata, and corectopia ()
........Meniere disease ()
........motion sickness ()
........noise induced hearing loss ()
........nonsyndromic genetic deafness ()
........OTSC1 ()
........OTSC10 ()
........OTSC2 ()
........OTSC3 ()
........OTSC4 ()
........OTSC5 ()
........OTSC7 ()
........OTSC8 ()
........syndromic genetic deafness ()
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:	37940
Name:	inherited auditory system disease
Definition:	An instance of auditory system disease that is caused by an inherited modification of the individual's genome.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	auditory system hereditary disorder; hereditary auditory system disease
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal