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:
expandCongenital Microtia (D065817)
Parent Node:
expandHearing Loss, Conductive (D006314)
..Starting node
..expandMicrotia, meatal atresia and conductive deafness (C537469)

       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:7258
Name:Microtia, meatal atresia and conductive deafness
Definition:
Alternative IDs:
ParentIDs:MESH:D006314|MESH:D065817
TreeNumbers:C09.218.235/C537469 |C09.218.458.341.562/C537469 |C10.597.751.418.341.562/C537469 |C16.131.287/C537469 |C23.888.592.763.393.341.562/C537469
Synonyms:Familial microtia and meatal atresia |Familial microtia with meatal atresia and conductive deafness |Gupta Patton syndrome |Microtia meatal atresia deafness dominant |Microtia with meatal atresia and conductive deafness
Slim Mappings:Congenital abnormality|Ear-nose-throat disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C537469
MeSH: C537469
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants