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MAMMALIAN PHENOTYPE - ANNOTATIONS

The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.

Term:otosclerosis
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Accession:MP:0004897 term browser browse the term
Definition:formation of spongy bone in the bony labyrinth of the ear, especially adjacent to the footplate of the stapes; it may cause bony ankylosis of the stapes, resulting in conductive hearing loss; cochlear otosclerosis results in sensorineural hearing loss
Synonyms:xref: EFO:0004213;   HP:0000362



show annotations for term's descendants           Sort by:
otosclerosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd7 chromodomain helicase DNA binding protein 7 IAGP MGI PMID:24840056 NCBI chr 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659
JBrowse link
G S1pr2 sphingosine-1-phosphate receptor 2 IAGP MGI PMID:16945494 NCBI chr 9:20,877,248...20,888,089
Ensembl chr 9:20,873,657...20,888,077
JBrowse link
G Tnfrsf11b tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin) IAGP MGI PMID:16467704 NCBI chr15:54,114,014...54,141,700
Ensembl chr15:54,114,015...54,141,880
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 17097
    hearing/vestibular/ear phenotype 1012
      abnormal ear morphology 570
        abnormal inner ear morphology 354
          abnormal bony labyrinth 12
            otosclerosis 3
Path 2
Term Annotations click to browse term
  mammalian phenotype 17097
    skeleton phenotype 3398
      abnormal skeleton morphology 3205
        abnormal axial skeleton morphology 1793
          abnormal craniofacial bone morphology 1047
            abnormal cranium morphology 1031
              abnormal neurocranium morphology 351
                abnormal temporal bone morphology 95
                  abnormal temporal bone petrous part morphology 38
                    abnormal bony labyrinth 12
                      otosclerosis 3
paths to the root