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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
ISS
ClinVar Annotator: match by term: Deafness and myopia | ClinVar Annotator: match by term: High myopia-sensorineural deafness syndrome
CTD Direct Evidence: marker/mechanism
OMIM:221200
OMIM
ClinVar
CTD
MouseDO
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 21140
    syndrome 10749
      high myopia-sensorineural deafness syndrome 1
Path 2
Term Annotations click to browse term
  disease 21140
    disease of anatomical entity 18187
      nervous system disease 14017
        Neurologic Manifestations 9994
          sensory system disease 6891
            Otorhinolaryngologic Diseases 1717
              auditory system disease 979
                Hearing Disorders 808
                  Hearing Loss 803
                    Deafness 360
                      high myopia-sensorineural deafness syndrome 1
paths to the root