Disease browser and phenotype 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

Disease Browser
Parent Node: Hearing Loss, Unilateral (D046088)
..Starting node ..Deafness, Unilateral (C567079)
Child Nodes:
Sister Nodes:
..Deafness, Unilateral (C567079)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3127

Name:

Deafness, Unilateral

Definition:

Alternative IDs:

ParentIDs:

MESH:D046088

TreeNumbers:

C09.218.458.341.950/C567079 |C10.597.751.418.341.950/C567079 |C23.888.592.763.393.341.950/C567079

Synonyms:

Slim Mappings:

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

Reference:

MedGen: C567079
MeSH: C567079
OMIM: 125000;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0009900	Unilateral deafness

Disease Causing ClinVar Variants