ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive nonsyndromic deafness 67
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Accession:DOID:0110518 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LHFPL5 gene on chromosome 6p21. (DO)
Synonyms:exact_synonym: DFNB67;   autosomal recessive deafness 67
 primary_id: MESH:C565207;   RDO:0013916
 alt_id: OMIM:610265
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autosomal recessive nonsyndromic deafness 67 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lhfpl5 LHFPL tetraspan subfamily member 5 JBrowse link 20 5,815,837 5,826,137 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    sensory system disease 4265
      auditory system disease 667
        inner ear disease 473
          sensorineural hearing loss 437
            autosomal recessive nonsyndromic deafness 102
              autosomal recessive nonsyndromic deafness 67 1
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        sensory system disease 4265
          Otorhinolaryngologic Diseases 1042
            auditory system disease 667
              Hearing Disorders 553
                Hearing Loss 549
                  Deafness 261
                    nonsyndromic deafness 156
                      autosomal recessive nonsyndromic deafness 102
                        autosomal recessive nonsyndromic deafness 67 1
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