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 perceptual disorders (MONDO:0024422)
Parent Node: disease of ear (MONDO:0021205)
..Starting node ..hyperacusis ()
Child Nodes:
Sister Nodes:
..ear infection ()
..ear neoplasm ()
..external ear disease ()
..hyperacusis ()
..inner ear disease ()
..middle ear disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	43303
Name:	hyperacusis
Definition:	A disorder in which an individual has an abnormally low noise tolerance, and increased sensitivity to sounds.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	auditory hyperesthesia; auditory Hyperesthesias; disturbance, loudness perception; disturbances, loudness perception; hyperacuses; hyperacusia; hyperacusias; hyperacusis; hyperesthesia, auditory; hyperesthesias, auditory; loudness perception disturbance; loudness perception disturbances; loudness re
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal