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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
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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
 xref: GARD:12844;   ORDO:363396
For additional species annotation, visit the Alliance of Genome Resources.



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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:24033266 PMID:25363768 PMID:25741868 More... NCBI chr15:87,563,506...87,570,125
Ensembl chr15:87,563,322...87,570,393
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17427
    syndrome 8258
      high myopia-sensorineural deafness syndrome 1
Path 2
Term Annotations click to browse term
  disease 17427
    disease of anatomical entity 16758
      nervous system disease 12204
        sensory system disease 5708
          Otorhinolaryngologic Diseases 1366
            auditory system disease 918
              Hearing Disorders 745
                Hearing Loss 741
                  Deafness 388
                    high myopia-sensorineural deafness syndrome 1
paths to the root