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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 121
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Accession:DOID:9006143 term browser browse the term
Definition:A disease characterized by congenital or prelingual moderate sensorineural hearing loss. Caused by homozygous or compound heterozygous mutation in the GPR156 gene on chromosome 3q13.
Synonyms:exact_synonym: DEAFNESS, AUTOSOMAL RECESSIVE 121;   DFNB121
 primary_id: OMIM:620551


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Autosomal Recessive Nonsyndromic Deafness 121 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr156 G protein-coupled receptor 156 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 121 OMIM
ClinVar		 PMID:25741868 PMID:37814107 NCBI chr11:62,722,632...62,815,402
Ensembl chr11:62,723,872...62,815,435 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    sensory system disease 7035
      Hearing Disorders 821
        Hearing Loss 816
          sensorineural hearing loss 627
            autosomal recessive nonsyndromic deafness 143
              Autosomal Recessive Nonsyndromic Deafness 121 1
Path 2
Term Annotations click to browse term
  disease 18970
    Pathological Conditions, Signs and Symptoms 13384
      Signs and Symptoms 10875
        Neurologic Manifestations 10113
          sensory system disease 7035
            Otorhinolaryngologic Diseases 1741
              auditory system disease 995
                Hearing Disorders 821
                  Hearing Loss 816
                    Deafness 376
                      nonsyndromic deafness 217
                        autosomal recessive nonsyndromic deafness 143
                          Autosomal Recessive Nonsyndromic Deafness 121 1
paths to the root