Disease browser and phenotype 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

Disease Browser
Parent Node: Hearing Disorders (D006311)
..Starting node ..Hyperacusis (D012001)
Child Nodes:
Sister Nodes:
..Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia (C580009)
..Hearing Loss (D034381) 397
..Hyperacusis (D012001)
..Ossicular Malformations, familial (C537142)
..Tinnitus (D014012) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5329
Name:	Hyperacusis
Definition:	An abnormally disproportionate increase in the sensation of loudness in response to auditory stimuli of normal volume. COCHLEAR DISEASES; VESTIBULOCOCHLEAR NERVE DISEASES; FACIAL NERVE DISEASES; STAPES SURGERY; and other disorders may be associated with this condition.
Alternative IDs:
ParentIDs:	MESH:D006311
TreeNumbers:	C09.218.458.505 \|C10.597.751.418.505 \|C23.888.592.763.393.505
Synonyms:	Auditory Hyperesthesia \|Auditory Hyperesthesias \|Disturbance, Loudness Perception \|Disturbances, Loudness Perception \|Hyperacuses \|Hyperacusia \|Hyperacusias \|Hyperesthesia, Auditory \|Hyperesthesias, Auditory \|Loudness Perception Disturbance \|Loudness Perception Di
Slim Mappings:	Ear-nose-throat disease\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: D012001 MeSH: D012001 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants