Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandHearing Loss, Conductive (D006314)
..Starting node
..expandDeafness, Conductive, with Malformed External Ear (C565644)

       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:3101
Name:Deafness, Conductive, with Malformed External Ear
Definition:
Alternative IDs:
ParentIDs:MESH:D006314
TreeNumbers:C09.218.458.341.562/C565644 |C10.597.751.418.341.562/C565644 |C23.888.592.763.393.341.562/C565644
Synonyms:
Slim Mappings:Ear-nose-throat disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C565644
MeSH: C565644
OMIM: 221300;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0004452Abnormality of the middle ear ossicles
3 HP:0000377Abnormality of the pinna
4 HP:0000405Conductive hearing impairment
5 HP:0000135Hypogonadism
6 HP:0001249Intellectual disability
7 HP:0000369Low-set ears
Disease Causing ClinVar Variants