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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 44
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Accession:DOID:0110501 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ADCY1 gene on chromosome 7p12. (DO)
Synonyms:exact_synonym: DFNB44;   autosomal recessive deafness 44
 primary_id: MESH:C565716
 alt_id: OMIM:610154


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autosomal recessive nonsyndromic deafness 44 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy1 adenylate cyclase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 44
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15583425 PMID:24033266 PMID:24482543 PMID:24824130 PMID:25741868 More... NCBI chr11:7,013,433...7,128,506
Ensembl chr11:7,013,489...7,128,506 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    sensory system disease 6747
      Hearing Disorders 815
        Hearing Loss 810
          sensorineural hearing loss 619
            autosomal recessive nonsyndromic deafness 143
              autosomal recessive nonsyndromic deafness 44 1
Path 2
Term Annotations click to browse term
  disease 18301
    Pathological Conditions, Signs and Symptoms 12359
      Signs and Symptoms 10135
        Neurologic Manifestations 9790
          sensory system disease 6747
            Otorhinolaryngologic Diseases 1733
              auditory system disease 988
                Hearing Disorders 815
                  Hearing Loss 810
                    Deafness 384
                      nonsyndromic deafness 221
                        autosomal recessive nonsyndromic deafness 143
                          autosomal recessive nonsyndromic deafness 44 1
paths to the root