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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:X-linked mixed hearing loss with perilymphatic gusher
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Accession:EFO:MONDO:0010576 term browser browse the term
Definition:X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafnesss affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss.
Synonyms:exact_synonym: DFNX2;   X-linked mixed conductive and neurosensory hearing loss;   X-linked mixed conductive and sensorineural hearing loss;   X-linked stapes gusher syndrome
 narrow_synonym: Nance deafness;   X-linked deafness type 2;   X-linked mixed conductive and neurosensory deafness;   X-linked mixed conductive and sensorineural deafness;   X-linked mixed deafness with perilymphatic gusher;   deafness, X-linked 2, X-linked recessive
 broad_synonym: central hearing loss;   high frequency deafness;   high frequency hearing loss;   perceptive deafness;   perceptive hearing loss;   perceptive hearing loss or deafness;   sensorineural deafness;   sensorineural hearing loss;   sensory hearing loss
 related_synonym: DFN 3 nonsyndromic hearing loss and deafness;   DFN3;   deafness 3 conductive with stapes fixation;   deafness conductive with stapes fixation;   deafness mixed with perilymphatic gusher;   deafness, X-linked 2;   gusher syndrome;   perilymphatic gusher-deafness syndrome;   sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental Abnormality of the Ear
 alt_id: MONDO:0010576
 xref: DOID:0111737;   GARD:4504;   ICD9:389.1;   ICD9:389.10;   ICD9:389.14;   MEDGEN:336750;   MIM:304400;   MedDRA:10040016;   ORDO:383;   UMLS:C1844678


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            hereditary otorhinolaryngologic disease 0
              X-linked mixed hearing loss with perilymphatic gusher 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          nervous system disease 0
            sensory system disease 0
              auditory system disease 0
                hearing disorder 0
                  hearing loss 0
                    nonsyndromic genetic hearing loss 0
                      prelingual non-syndromic genetic hearing loss 0
                        X-linked mixed hearing loss with perilymphatic gusher 0
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