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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 the SLITRK6 gene 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

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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 | ClinVar Annotator: match by term: High myopia-sensorineural deafness syndrome OMIM
ClinVar		 PMID:23543054 PMID:23946138 PMID:24033266 PMID:25363768 PMID:25741868 More... NCBI chrNW_004955404:22,738,080...22,744,601
Ensembl chrNW_004955404:22,737,974...22,745,046 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9329
      high myopia-sensorineural deafness syndrome 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        Neurologic Manifestations 8844
          sensory system disease 6162
            Otorhinolaryngologic Diseases 1563
              auditory system disease 892
                Hearing Disorders 728
                  Hearing Loss 723
                    Deafness 350
                      high myopia-sensorineural deafness syndrome 1
paths to the root