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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 Disorders (D006311)
..Starting node ..Ossicular Malformations, familial (C537142)
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:

8362

Name:

Ossicular Malformations, familial

Definition:

Alternative IDs:

ParentIDs:

MESH:D006311

TreeNumbers:

C09.218.458/C537142 |C10.597.751.418/C537142 |C23.888.592.763.393/C537142

Synonyms:

Familial middle ear ossicular anomalies |Familial ossicular malformations

Slim Mappings:

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

Reference:

MedGen: C537142
MeSH: C537142
OMIM: 165680;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0004452	Abnormality of the middle ear ossicles
3	HP:0008591	Congenital conductive hearing impairment

Disease Causing ClinVar Variants