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:
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Congenital Abnormalities (D000013)
Parent Node:
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Ear Diseases (D004427)
..Starting node
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Congenital Microtia (D065817)

       Child Nodes:
........expandBixler Christian Gorlin syndrome (C537632)
........expandCongenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia (C580009)
........expandDeafness with Labyrinthine Aplasia Microtia and Microdontia (LAMM) (C548011)
........expandDeafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia (C565195)
........expandDiamond-Blackfan Anemia With Microtia And Cleft Palate (C565256)
........expandIsotretinoin embryopathy like syndrome (C535542)
........expandMastocytosis, cutaneous, with short stature, conductive hearing loss and microtia (C536033)
........expandMeier-Gorlin syndrome (C538012)
........expandMicrotia With Nasolacrimal Duct Imperforation And Eye Coloboma (C567512)
........expandMicrotia, Hearing Impairment, And Cleft Palate (C567359)
........expandMicrotia, meatal atresia and conductive deafness (C537469)
........expandMicrotia-Anotia (C563457)



 Sister Nodes: 
..expandAuriculo-condylar syndrome (C538270)
..expandCholesteatoma, Middle Ear (D018424)
..expandCongenital Microtia (D065817) Child12
..expandEar Deformities, Acquired (D004426)
..expandEar Neoplasms (D004428)
..expandEarache (D004433)
..expandHearing Disorders (D006311) Child403
..expandHerpes Zoster Oticus (D016697)
..expandHYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS (OMIM:614187)
..expandLabyrinth Diseases (D007759) Child12
..expandLachiewicz Sibley syndrome (C538131)
..expandMyringosclerosis (D063371)
..expandOtitis (D010031) Child7
..expandOtomycosis (D059249)
..expandOtosclerosis (D010040) Child6
..expandPreauricular Tag, Isolated, Autosomal Dominant, 1 (C566904)
..expandPrimrose syndrome (C536420)
..expandRetrocochlear Diseases (D012181) Child30
..expandSTAPES ANKYLOSIS WITH BROAD THUMB AND TOES (OMIM:184460)
..expandSUPERNUMERARY DER(22)t(8 (OMIM:613700)
..expandSusac Syndrome (D055955)
..expandTympanic Membrane Perforation (D018058)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:2660
Name:Congenital Microtia
Definition:Malformation of external portion of EAR AURICLE.
Alternative IDs:
ParentIDs:MESH:D000013|MESH:D004427
TreeNumbers:C09.218.235 |C16.131.287
Synonyms:Anotia |Anotias |Congenital Microtias |Microtia |Microtia, Congenital |Microtias |Microtias, Congenital
Slim Mappings:Congenital abnormality|Ear-nose-throat disease
Reference: MedGen: D065817
MeSH: D065817
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants