Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive nonsyndromic deafness 102
go back to main search page
Accession:DOID:0110463 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the EPS8 gene on chromosome 12p12. (DO)
Synonyms:exact_synonym: DFNB102;   autosomal recessive deafness 102
 primary_id: OMIM:615974
 alt_id: RDO:9001426
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
autosomal recessive nonsyndromic deafness 102 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eps8 epidermal growth factor receptor pathway substrate 8 JBrowse link 4 171,475,155 171,645,620 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    sensory system disease 4659
      auditory system disease 685
        inner ear disease 494
          sensorineural hearing loss 458
            autosomal recessive nonsyndromic deafness 96
              autosomal recessive nonsyndromic deafness 102 1
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      nervous system disease 10196
        sensory system disease 4659
          Otorhinolaryngologic Diseases 1076
            auditory system disease 685
              Hearing Disorders 570
                Hearing Loss 566
                  Deafness 249
                    nonsyndromic deafness 150
                      autosomal recessive nonsyndromic deafness 96
                        autosomal recessive nonsyndromic deafness 102 1
paths to the root

NHLBI Logo

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