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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 dominant nonsyndromic deafness 70
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Accession:DOID:0110592 term browser browse the term
Definition:An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the MCM2 gene on chromosome 3q21. (DO)
Synonyms:exact_synonym: DFNA70;   autosomal dominant deafness 70
 primary_id: OMIM:616968;   RDO:9001424

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autosomal dominant nonsyndromic deafness 70 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcm2 minichromosome maintenance complex component 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 70 OMIM
ClinVar		 PMID:25741868 PMID:26196677 PMID:28492532 NCBI chrNW_004955429:16,012,345...16,027,151
Ensembl chrNW_004955429:16,012,173...16,027,277 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    sensory system disease 6160
      Hearing Disorders 726
        Hearing Loss 721
          sensorineural hearing loss 541
            autosomal dominant nonsyndromic deafness 76
              autosomal dominant nonsyndromic deafness 70 1
Path 2
Term Annotations click to browse term
  disease 16063
    Pathological Conditions, Signs and Symptoms 11054
      Signs and Symptoms 9145
        Neurologic Manifestations 8844
          sensory system disease 6160
            Otorhinolaryngologic Diseases 1561
              auditory system disease 890
                Hearing Disorders 726
                  Hearing Loss 721
                    Deafness 348
                      nonsyndromic deafness 201
                        autosomal dominant nonsyndromic deafness 76
                          autosomal dominant nonsyndromic deafness 70 1
paths to the root