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: Auditory Perceptual Disorders (D001308)
..Starting node ..Tune Deafness (C566019)
Child Nodes:
Sister Nodes:
..Tune Deafness (C566019)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11343

Name:

Tune Deafness

Definition:

Alternative IDs:

ParentIDs:

MESH:D001308

TreeNumbers:

C09.218.807.186.094/C566019 |C10.228.140.068.094/C566019 |C10.597.606.762.200/C566019 |C23.888.592.604.764.200/C566019 |F03.087.250.100/C566019

Synonyms:

Amusia, Congenital |Dysmelodia

Slim Mappings:

Ear-nose-throat disease|Mental disorder|Nervous system disease|Signs and symptoms

Reference:

MedGen: C566019
MeSH: C566019
OMIM: 191200;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000365	Hearing impairment

Disease Causing ClinVar Variants