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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 29
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Accession:DOID:0110487 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CLDN14 gene on chromosome 21q22. (DO)
Synonyms:exact_synonym: DFNB29;   autosomal recessive deafness 29
 primary_id: OMIM:614035


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autosomal recessive nonsyndromic deafness 29 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn14 claudin 14 ISO
IAGP		 OMIM:614035
ClinVar Annotator: match by term: Deafness, autosomal recessive 29
CTD Direct Evidence: marker/mechanism		 OMIM
MouseDO
ClinVar
CTD		 PMID:11163249 PMID:15880785 PMID:22246673 PMID:23235333 PMID:23590985 More... NCBI chr16:93,715,919...93,809,733
Ensembl chr16:93,715,919...93,809,696 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    sensory system disease 6744
      Hearing Disorders 813
        Hearing Loss 808
          sensorineural hearing loss 617
            autosomal recessive nonsyndromic deafness 143
              autosomal recessive nonsyndromic deafness 29 1
Path 2
Term Annotations click to browse term
  disease 18300
    Pathological Conditions, Signs and Symptoms 12356
      Signs and Symptoms 10134
        Neurologic Manifestations 9788
          sensory system disease 6744
            Otorhinolaryngologic Diseases 1731
              auditory system disease 986
                Hearing Disorders 813
                  Hearing Loss 808
                    Deafness 382
                      nonsyndromic deafness 221
                        autosomal recessive nonsyndromic deafness 143
                          autosomal recessive nonsyndromic deafness 29 1
paths to the root