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ONTOLOGY REPORT - ANNOTATIONS


Term:cortical deafness
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Accession:DOID:0060140 term browser browse the term
Definition:Hearing loss due to disease of the AUDITORY PATHWAYS (in the CENTRAL NERVOUS SYSTEM) which originate in the COCHLEAR NUCLEI of the PONS and then ascend bilaterally to the MIDBRAIN, the THALAMUS, and then the AUDITORY CORTEX in the TEMPORAL LOBE. Bilateral lesions of the auditory pathways are usually required to cause central hearing loss. Cortical deafness refers to loss of hearing due to bilateral auditory cortex lesions. Unilateral BRAIN STEM lesions involving the cochlear nuclei may result in unilateral hearing loss.
Synonyms:exact_synonym: central hearing loss
 primary_id: MESH:D006313
 alt_id: RDO:0001396
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AUDITORY NEUROPATHY AND OPTIC ATROPHY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fdxr ferredoxin reductase JBrowse link 10 103,817,724 103,826,413 RGD:8554872
RGD:7240710
autosomal dominant auditory neuropathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Diaph3 diaphanous-related formin 3 JBrowse link 15 69,928,507 70,400,077 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease X-linked recessive 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prps1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 111,798,233 111,820,270 RGD:7240710
RGD:8554872
deafness-dystonia-optic neuronopathy syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Timm8a1 translocase of inner mitochondrial membrane 8A1 JBrowse link X 105,351,714 105,355,722 RGD:13209130
RGD:11554173
RGD:8554872
RGD:7240710
RGD:13209136
RGD:13209134
Mitochondrial Myopathy with Lactic Acidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpla8 patatin-like phospholipase domain containing 8 JBrowse link 6 64,224,870 64,288,465 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    sensory system disease 4681
      auditory system disease 684
        retrocochlear disease 26
          Central Auditory Diseases 7
            cortical deafness 5
              Auditory Neuropathy + 1
              Charcot-Marie-Tooth disease X-linked recessive 5 1
              Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3 0
              Deafness, Autosomal Dominant Nonsyndromic Sensorineural 53 0
              Deafness, Nephritis, Anorectal Malformation 0
              Deafness, Neural, Congenital Moderate 0
              Deafness, Neurosensory, Autosomal Recessive 47 0
              Groll Hirschowitz Syndrome 0
              Mitochondrial Myopathy with Lactic Acidosis 1
              Ruzicka Goerz Anton syndrome 0
              Santos Mateus Leal Syndrome 0
              Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 0
              autosomal dominant auditory neuropathy 1 1
              autosomal recessive nonsyndromic deafness 51 0
              autosomal recessive nonsyndromic deafness 55 0
              deafness-dystonia-optic neuronopathy syndrome 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        central nervous system disease 8096
          brain disease 7565
            disease of mental health 5517
              developmental disorder of mental health 2710
                specific developmental disorder 1882
                  communication disorder 212
                    agnosia 20
                      cortical deafness 5
                        Auditory Neuropathy + 1
                        Charcot-Marie-Tooth disease X-linked recessive 5 1
                        Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3 0
                        Deafness, Autosomal Dominant Nonsyndromic Sensorineural 53 0
                        Deafness, Nephritis, Anorectal Malformation 0
                        Deafness, Neural, Congenital Moderate 0
                        Deafness, Neurosensory, Autosomal Recessive 47 0
                        Groll Hirschowitz Syndrome 0
                        Mitochondrial Myopathy with Lactic Acidosis 1
                        Ruzicka Goerz Anton syndrome 0
                        Santos Mateus Leal Syndrome 0
                        Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 0
                        autosomal dominant auditory neuropathy 1 1
                        autosomal recessive nonsyndromic deafness 51 0
                        autosomal recessive nonsyndromic deafness 55 0
                        deafness-dystonia-optic neuronopathy syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.