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ONTOLOGY REPORT - ANNOTATIONS


Term:otosclerosis
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Accession:DOID:12185 term browser browse the term
Definition:Formation of spongy bone in the labyrinth capsule which can progress toward the STAPES (stapedial fixation) or anteriorly toward the COCHLEA leading to conductive, sensorineural, or mixed HEARING LOSS. Several genes are associated with familial otosclerosis with varied clinical signs.
Synonyms:exact_synonym: OTS;   otoscleroses;   otospongioses;   otospongiosis
 primary_id: MESH:D010040
 xref: ICD10CM:H80.8;   ICD10CM:H80.80;   ICD9CM:387.8;   OMIM:PS166800;   ORDO:2794
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
otosclerosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agt angiotensinogen JBrowse link 19 57,321,594 57,333,460 RGD:8548860
RGD:8548871
G Bmp2 bone morphogenetic protein 2 JBrowse link 3 126,335,963 126,346,771 RGD:8698669
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:8698669
RGD:8699491
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:8552658
G RT1-CE13 RT1 class I, locus CE13 RGD:7364875
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:8157627

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15503
    sensory system disease 4666
      auditory system disease 691
        otosclerosis 6
          Otosclerosis 1 0
          Otosclerosis 10 0
          Otosclerosis 2 0
          Otosclerosis 3 0
          Otosclerosis 4 0
          Otosclerosis 5 0
          Otosclerosis 7 0
          Otosclerosis 8 0
Path 2
Term Annotations click to browse term
  disease 15503
    disease of anatomical entity 14857
      nervous system disease 10273
        sensory system disease 4666
          Otorhinolaryngologic Diseases 1083
            auditory system disease 691
              inner ear disease 499
                otosclerosis 6
                  Otosclerosis 1 0
                  Otosclerosis 10 0
                  Otosclerosis 2 0
                  Otosclerosis 3 0
                  Otosclerosis 4 0
                  Otosclerosis 5 0
                  Otosclerosis 7 0
                  Otosclerosis 8 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.