Hearing Loss Disease Portal


 
Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandFacial Nerve Diseases (D005155)
Parent Node:
expandHearing Loss, Conductive (D006314)
..Starting node
..expandDeafness, Conductive Stapedial, with Ear Malformation and Facial Palsy (C565123)

       Child Nodes:



 Sister Nodes: 
..expandAbruzzo Erickson syndrome (C535559)
..expandCleft Palate, Deafness, and Oligodontia (C565844)
..expandDeafness conductive ptosis skeletal anomalies (C535993)
..expandDeafness, Cochlear, with Myopia and Intellectual Impairment (C565645)
..expandDeafness, Conductive Stapedial, with Ear Malformation and Facial Palsy (C565123)
..expandDeafness, Conductive, with Malformed External Ear (C565644)
..expandDeafness, Neural, with Atypical Atopic Dermatitis (C565639)
..expandDeafness, Progressive, With Stapes Fixation (C563316)
..expandEpiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness (C565046)
..expandGOMBO syndrome (C537284)
..expandMastocytosis, cutaneous, with short stature, conductive hearing loss and microtia (C536033)
..expandMengel Konigsmark syndrome (C537239)
..expandMetaphyseal Dysostosis, Mental Retardation, and Conductive Deafness (C565396)
..expandMicrotia, meatal atresia and conductive deafness (C537469)
..expandMitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones (C563572)
..expandProgressive hearing loss stapes fixation (C536424)
..expandRetinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism (C564841)
..expandSchweitzer Kemink Graham syndrome (C536511)
..expandSiegler Brewer Carey syndrome (C537335)
..expandStoll Levy Francfort syndrome (C537498)
..expandZunich neuroectodermal syndrome (C536729)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:3100
Name:Deafness, Conductive Stapedial, with Ear Malformation and Facial Palsy
Definition:
Alternative IDs:
ParentIDs:MESH:D005155|MESH:D006314
TreeNumbers:C09.218.458.341.562/C565123 |C10.292.300/C565123 |C10.597.751.418.341.562/C565123 |C23.888.592.763.393.341.562/C565123
Synonyms:
Slim Mappings:Ear-nose-throat disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C565123
MeSH: C565123
OMIM: 124490;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0008628Abnormality of the stapes
3 HP:0000405Conductive hearing impairment
4 HP:0008572External ear malformation
5 HP:0010628Facial palsy
6 HP:0007209Facial paralysis
Disease Causing ClinVar Variants