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ONTOLOGY REPORT - ANNOTATIONS


Term:high myopia-sensorineural deafness syndrome
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Accession:DOID:0111628 term browser browse the term
Definition:A syndrome characterized by severe myopia and moderate to profound, bilateral, progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in SLITRK6 on chromosome 13q31.1. (DO)
Synonyms:exact_synonym: DFNMYP;   deafness and myopia;   deafness and myopia syndrome
 primary_id: OMIM:221200
 alt_id: DOID:9002022
 xref: GARD:12844;   ORDO:363396
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high myopia-sensorineural deafness syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slitrk6 SLIT and NTRK-like family, member 6 JBrowse link 15 95,507,632 95,514,259 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    syndrome 5791
      high myopia-sensorineural deafness syndrome 1
Path 2
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      nervous system disease 10397
        sensory system disease 4769
          Otorhinolaryngologic Diseases 1090
            auditory system disease 696
              Hearing Disorders 577
                Hearing Loss 573
                  Deafness 262
                    high myopia-sensorineural deafness 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.