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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:autosomal recessive nonsyndromic deafness 2
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Accession:DOID:0110477 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MYO7A gene on chromosome 11q13. (DO)
Synonyms:exact_synonym: DFNB2;   NSRD2;   Neurosensory Nonsyndromic Recessive Deafness 2;   autosomal recessive deafness 2
 primary_id: MESH:C564007
 alt_id: OMIM:600060
For additional species annotation, visit the Alliance of Genome Resources.



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autosomal recessive nonsyndromic deafness 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo7a myosin VIIA ISO ClinVar Annotator: match by OMIM:600060
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Deafness, autosomal recessive 2
ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2
OMIM
ClinVar
PMID:3130723 PMID:7568224 PMID:7870171 PMID:7951250 PMID:8900236 More... NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2 ClinVar NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    sensory system disease 5712
      auditory system disease 917
        inner ear disease 652
          sensorineural hearing loss 612
            autosomal recessive nonsyndromic deafness 113
              autosomal recessive nonsyndromic deafness 2 2
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        sensory system disease 5712
          Otorhinolaryngologic Diseases 1367
            auditory system disease 917
              Hearing Disorders 744
                Hearing Loss 740
                  Deafness 387
                    nonsyndromic deafness 279
                      autosomal recessive nonsyndromic deafness 113
                        autosomal recessive nonsyndromic deafness 2 2
paths to the root