Send us a Message



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

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:high myopia-sensorineural deafness syndrome
go back to main search page
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
 xref: GARD:12844;   ORDO:363396
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
high myopia-sensorineural deafness syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slitrk6 SLIT and NTRK-like family, member 6 ISO ClinVar Annotator: match by term: Deafness and myopia OMIM
ClinVar
PMID:23543054 PMID:23946138 PMID:25741868 NCBI chr15:95,507,632...95,514,259
Ensembl chr15:95,507,640...95,514,259
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    syndrome 7568
      high myopia-sensorineural deafness syndrome 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          Otorhinolaryngologic Diseases 1168
            auditory system disease 751
              Hearing Disorders 610
                Hearing Loss 606
                  Deafness 285
                    high myopia-sensorineural deafness syndrome 1
paths to the root